FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Richdale, AL
Baker, E
Short, M
Gradisar, M
AF Richdale, Amanda L.
Baker, Emma
Short, Michelle
Gradisar, Michael
TI The role of insomnia, pre-sleep arousal and psychopathology symptoms in
daytime impairment in adolescents with high-functioning autism spectrum
disorder
SO SLEEP MEDICINE
LA English
DT Article
DE Autism; Insomnia; Daytime functioning; Anxiety; Arousal; Depression;
Adolescence
ID ANXIETY DISORDERS; CHILDREN; DISTURBANCES; DEPRESSION; REDUCTION; PARENT
AB Objectives: Sleep disturbance and psychopathology are common during adolescence and are highly prevalent in individuals diagnosed with autism spectrum disorder (ASD). The aim of this study was to investigate relationships between sleep disturbance, psychopathology symptoms, and daytime functioning in adolescents with high-functioning autism spectrum disorder (HFASD) compared to typically developing (TD) adolescents.
Methods: Twenty-seven adolescents with HFASD and 27 age- and sex-matched TD adolescents completed questionnaires related to sleep, psychopathology and daytime functioning. Participants also completed a 7-day sleep/wake diary. A subsample of HFASD adolescents (55%) and all the TD adolescents wore an actigraphy monitor concurrently with the sleep diary.
Results: Adolescents with HFASD had significantly higher scores for depressed mood, anxiety and pre-sleep arousal compared with TD adolescents and poorer daytime functioning. There were more significant correlations between sleep variables and psychopathology variables, and sleep variables and daytime functioning, in the HFASD group than in the TD group. Standard regression found that sleep variables significantly accounted for 57% of the variance in daytime functioning symptoms of insufficient sleep in the HFASD group, while psychopathology variables accounted for 63% of the variance in daytime functioning.
Conclusions: Both sleep disturbance and psychopathology are more prevalent in adolescents with HFASD and are major contributors to poor daytime functioning in these individuals. (C) 2014 Published by Elsevier B.V.
C1 [Richdale, Amanda L.; Baker, Emma] La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic, Australia.
[Short, Michelle] Univ S Australia, Ctr Sleep Res, Adelaide, SA 5001, Australia.
[Gradisar, Michael] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia.
RP Richdale, AL (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Kingsbury Dr, Bundoora, Vic 3086, Australia.
EM a.richdale@latrobe.edu.au
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NR 41
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1389-9457
EI 1878-5506
J9 SLEEP MED
JI Sleep Med.
PD SEP
PY 2014
VL 15
IS 9
BP 1082
EP 1088
DI 10.1016/j.sleep.2014.05.005
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO6TA
UT WOS:000341483200013
PM 24974199
ER
PT J
AU Angell, AM
Solomon, O
AF Angell, Amber M.
Solomon, Olga
TI The social life of health records: Understanding families' experiences
of autism
SO SOCIAL SCIENCE & MEDICINE
LA English
DT Article
DE USA; African American; Autism; Family perspectives; Health record;
Health disparities; Healthcare disparities; Meaningful use
ID SPECTRUM DISORDERS; DIAGNOSIS; CHILDREN; CARE; CALIFORNIA; CAPITATION;
AGE
AB Outside of the epidemiological surveillance studies of autism prevalence, health records of children diagnosed with autism have not been sufficiently examined, yet they provide an important lens for showing how autism diagnosis, services and interventions are negotiated, coordinated and choreographed by families and practitioners across multiple settings. This article provides a multifaceted understanding of these processes from an ethnographic and discourse analytic perspective that reveals structural and interactional phenomena contributing to disparities in autism diagnosis and services. We consider health records as dualistic, material-discursive artifacts that are socio-interactionally co-constructed and variably interpreted, contested and utilized across home, school and clinic contexts. We chronicle several families' experiences of their children's autism diagnoses and interventions and describe ways in which health records are socially constructed, curated and placed in the middle of clinical encounters. We show how the parents in our study draw upon health records' material-discursive properties to display epistemic authority, expertise and knowledge in interactions with healthcare and school professionals involved in authorizing and planning their children's care. We describe how the parents experience the health records' clinical portrayals of their children and themselves, and how the parents' portrayals of their children are tacitly ratified or negated in the health records. The data include health record reviews, narrative interviews with parents and practitioners, and clinical observations. These data were collected between October 2009 and August 2012 as part of a larger study on disparities in autism diagnosis, interventions and services experienced by African American children with autism and their families living in Los Angeles County, California. Our analysis reveals the central role of health records in maintaining continuity of an autism diagnosis, interventions and services. This article contributes to enhanced professional awareness, parent-professional partnerships, and equity in the provision of healthcare and human services related to autism. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Angell, Amber M.; Solomon, Olga] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
RP Angell, AM (reprint author), Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
EM aangell@usc.edu; olga.solomon@usc.edu
FU grant Autism in Urban Context: Linking Heterogeneity with Health and
Service Disparities (NIH/NIMH) [R01 MH089474]; Division of Occupational
Science and Occupational Therapy at the USC Herman Ostrow School of
Dentistry
FX We are deeply grateful to the children and their families who
participated in this study. This study was supported by a grant Autism
in Urban Context: Linking Heterogeneity with Health and Service
Disparities (NIH/NIMH, R01 MH089474, 2009-2012, O. Solomon, P.I.). The
content of this article is solely the responsibility of the authors and
does not necessarily represent the official views of the National
Institute of Mental Health or the National Institutes of Health. We
thank the members of the Autism in Urban Context research team: Mary
Lawlor, ScD, Sharon Cermak, EdD, Marie Poulsen, PhD, Thomas Valente,
PhD, Marian Williams, PhD, and Larry Yin, MD; and post-doctoral
researchers Kimberly Wilkinson, PhD and Tessa Milman, OTD. We also
gratefully acknowledge the support of the Division of Occupational
Science and Occupational Therapy at the USC Herman Ostrow School of
Dentistry.
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NR 45
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0277-9536
J9 SOC SCI MED
JI Soc. Sci. Med.
PD SEP
PY 2014
VL 117
BP 50
EP 57
DI 10.1016/j.socscimed.2014.07.020
PG 8
WC Public, Environmental & Occupational Health; Social Sciences, Biomedical
SC Public, Environmental & Occupational Health; Biomedical Social Sciences
GA AO6SF
UT WOS:000341481100007
PM 25042544
ER
PT J
AU Fahnehjelm, KT
Dahl, S
Martin, L
Ek, U
AF Fahnehjelm, Kristina Tear
Dahl, Sara
Martin, Lene
Ek, Ulla
TI Optic nerve hypoplasia in children and adolescents; prevalence, ocular
characteristics and behavioural problems
SO ACTA OPHTHALMOLOGICA
LA English
DT Article
DE behaviour disc; area optic nerve hypoplasia; prevalence
ID DOUBLING TECHNOLOGY PERIMETRY; VISUAL IMPAIRMENT; SWEDISH CHILDREN;
RISK-FACTORS; SYSTEM ABNORMALITIES; YOUNG-CHILDREN; DYSPLASIA; SPECTRUM;
RAREBIT; REAPPRAISAL
AB Purpose: To report prevalence, ocular characteristics and coexisting behavioural problems in children and adolescents with optic nerve hypoplasia (ONH), which is a common cause of visual impairment in children in western countries, often associated with neurological or endocrinological problems and where autism has been reported in severe cases with blindness.
Methods: This is a population-based cross-sectional study of patients <20 years of age who had been diagnosed with NH and lived in the county of Stockholm in December 2009. Ophthalmological assessments including fundus photographs with optic disc analyses were made. A questionnaire was used to screen for behaviour and development.
Results: The prevalence of ONH in all living children <18 years of age in Stockholm was 17.3/100 000 with a prevalence of visual impairment (<0.3) of 3.9/100 000. In total, 66 patients, median age 9.3 years (0.6-19.4), 36 with bilateral and 30 with unilateral ONH, were included in the current study; 53 were re-examined clinically, group A, and 13 agreed to retrospective analyses of existing medical records, group B. Analyses of the optic discs were made in fundus photographs from 53 patients comparing a semi-automated (Retinal Size Tool) and a manual method (Zeki). There was a strong curvilinear correlation (r(S) = 0.91 p < 0.0001 for both eyes). Behavioural problems were more common (p < 0.05) in bilateral ONII.
Conclusion: Optic nerve hypoplasia is a common ocular malformation with a prevalence of 17.3/100 000 children and adolescents <18 years of age in Stockholm. Unilateral ONH seems as common as bilateral.
C1 [Fahnehjelm, Kristina Tear] Karolinska Univ Hosp, Dept Clin Neurosci, Karolinska Inst, Stockholm, Sweden.
[Fahnehjelm, Kristina Tear] Karolinska Univ Hosp, St Erik Eye Hosp, Dept Paediat Ophthalmol & Strabismus, Stockholm, Sweden.
[Dahl, Sara] Karolinska Univ Hosp, Dept Paediat, Stockholm, Sweden.
[Martin, Lene] Malardalen Univ, Sch Hlth Care & Social Welf, Eskilstuna, Sweden.
[Ek, Ulla] Stockholm Univ, Dept Special Educ, S-10691 Stockholm, Sweden.
RP Fahnehjelm, KT (reprint author), Karolinska Univ Hosp, Dept Clin Neuroscienc, Karolinska Inst, Stockholm, Sweden.
EM kristina.tear-fahnehjelm@sankterik.se
FU Sigvard och Marianne Bernadotte Foundation; Signhild Engkvist
Foundation; Samariten Foundation
FX This project has been supported by the Sigvard och Marianne Bernadotte
Foundation, the Signhild Engkvist Foundation and the Samariten
Foundation.
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NR 50
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1755-375X
EI 1755-3768
J9 ACTA OPHTHALMOL
JI Acta Ophthalmol.
PD SEP
PY 2014
VL 92
IS 6
BP 563
EP 570
DI 10.1111/aos.12270
PG 8
WC Ophthalmology
SC Ophthalmology
GA AN4VD
UT WOS:000340585800033
ER
PT J
AU Leivonen, S
Voutilainen, A
Hinkka-Yli-Salomaki, S
Timonen-Soivio, L
Chudal, R
Gissler, M
Huttunen, J
Sourander, A
AF Leivonen, Susanna
Voutilainen, Arja
Hinkka-Yli-Salomaki, Susanna
Timonen-Soivio, Laura
Chudal, Roshan
Gissler, Mika
Huttunen, Jukka
Sourander, Andre
TI A nationwide register study of the characteristics, incidence and
validity of diagnosed Tourette syndrome and other tic disorders
SO ACTA PAEDIATRICA
LA English
DT Article
DE Incidence; Register-based study; Tic disorder; Tourette's syndrome;
Validation
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS;
NEURODEVELOPMENTAL DISORDERS; SEVERITY-SCALE; BIRTH COHORT;
RISK-FACTORS; SCHIZOPHRENIA; EPIDEMIOLOGY; PREVALENCE; AGE
AB Aim: The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register.
Methods: Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians.
Results: The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%.
Conclusion: This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders.
C1 [Leivonen, Susanna; Hinkka-Yli-Salomaki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku, Finland.
[Leivonen, Susanna; Voutilainen, Arja; Timonen-Soivio, Laura] Univ Helsinki, Childrens Hosp, Helsinki, Finland.
[Leivonen, Susanna; Voutilainen, Arja; Timonen-Soivio, Laura] Univ Helsinki, Cent Hosp, Helsinki, Finland.
[Gissler, Mika] Natl Inst Hlth & Welf THL, Helsinki, Finland.
[Gissler, Mika] Nord Sch Publ Hlth NHV, Gothenburg, Sweden.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[Sourander, Andre] UiT, RKBU, Tromso, Norway.
RP Leivonen, S (reprint author), Univ Turku, Dept Child Psychiat, Kliininen Laitos, Turun 20014, Finland.
EM susanna.leivonen@utu.fi
RI Chudal, Roshan/C-1067-2015
FU Sigrid Juselius Foundation; Jane and Aatos Erkko Foundation; Academy of
Finland
FX We are grateful to families who participated in the interview study and
the people in Helsinki and Turku University central hospitals and
Rovaniemi, Jyvaskyla and Mikkeli central hospitals who did help with the
identification of the children and gathering the data. We would also
like to thank data manager Juha-Pekka Virtanen and project coordinator
Tanja Sarlin and Jarna Lindroos at the Department of child psychiatry,
Turku University hospital. The study was funded by Sigrid Juselius
Foundation, Jane and Aatos Erkko Foundation and Academy of Finland. On
behalf of all authors, the corresponding author states that there is no
conflict of interests.
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World Health Organization (WHO), 1992, INT CLASS DIS 10 REV
NR 30
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0803-5253
EI 1651-2227
J9 ACTA PAEDIATR
JI Acta Paediatr.
PD SEP
PY 2014
VL 103
IS 9
BP 984
EP 990
DI 10.1111/apa.12708
PG 7
WC Pediatrics
SC Pediatrics
GA AO2GQ
UT WOS:000341136400024
PM 24862980
ER
PT J
AU Glidden, LM
Grein, KA
Ludwig, JA
AF Glidden, Laraine Masters
Grein, Katherine Anne
Ludwig, Jesse Andrew
TI The Down Syndrome Advantage: It Depends on What and When You Measure
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Down syndrome advantage; intellectual/developmental disability; family
adjustment; family expectations; adaptive behavior; longitudinal method;
stereotypes
ID DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; SYNDROME
SPECIFICITY; PRESCHOOL-CHILDREN; BEHAVIOR PROBLEMS; MOTHERS; FAMILY;
AUTISM; VULNERABILITY; PERSPECTIVES
AB A "Down syndrome advantage''-better outcomes for individuals with Down syndrome and their families than for those with other intellectual/developmental disabilities (IDD)-is reduced when variables confounded with diagnostic category are controlled. We compared maternal outcomes in a longitudinal sample of families rearing children with Down syndrome or other IDD, and found that a Down syndrome advantage is (a) most likely when the metric is about the son/daughter rather than the parent or family more globally, (b) may be present or absent at different ages, and (c) is partially explained by higher levels of adaptive behavior for individuals with Down syndrome. We discuss the importance of multiple measures at multiple times, and implications for family expectations and adjustment at various life stages.
C1 [Glidden, Laraine Masters; Grein, Katherine Anne; Ludwig, Jesse Andrew] St Marys Coll Maryland, Dept Psychol, St Marys City, MD 20686 USA.
RP Glidden, LM (reprint author), St Marys Coll Maryland, Dept Psychol, 18952 E Fisher Rd, St Marys City, MD 20686 USA.
EM lmglidden@smcm.edu
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U. S. Bureau of the Census, 2012, INC POV HLTH INS COV
World Health Organization, 2012, GEN HUM DIS SYNDR
NR 40
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 389
EP 404
DI 10.1352/1944-7558-119.5.389
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000001
PM 25148054
ER
PT J
AU Totsika, V
Hastings, RP
Vagenas, D
Emerson, E
AF Totsika, Vasiliki
Hastings, Richard Patrick
Vagenas, Dimitrios
Emerson, Eric
TI Parenting and the Behavior Problems of Young Children With an
Intellectual Disability: Concurrent and Longitudinal Relationships in a
Population-Based Study
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE intellectual disability; parenting; longitudinal; parent-child
relationship
ID AUTISM SPECTRUM DISORDER; MATERNAL MENTAL-HEALTH; STONES TRIPLE P;
DIFFICULTIES QUESTIONNAIRE; MIDDLE CHILDHOOD; DEVELOPMENTAL-DISABILITY;
RELATIONSHIP QUALITY; EMOTIONAL-PROBLEMS; SYMPTOMS; CHAOS
AB We examined parenting behaviors, and their association with concurrent and later child behavior problems. Children with an intellectual disability (ID) were identified from a UK birth cohort (N = 516 at age 5). Compared to parents of children without an ID, parents of children with an ID used discipline less frequently, but reported a more negative relationship with their child. Among children with an ID, discipline, and home atmosphere had no long-term association with behavior problems, whereas relationship quality did: closer relationships were associated with fewer concurrent and later child behavior problems. Increased parent-child conflict was associated with greater concurrent and later behavior problems. Parenting programs in ID could target parent-child relationship quality as a potential mediator of behavioral improvements in children.
C1 [Totsika, Vasiliki; Hastings, Richard Patrick] Univ Warwick, Coventry CV4 7AL, W Midlands, England.
[Vagenas, Dimitrios] Queensland Univ Technol, Brisbane, Qld 4001, Australia.
[Emerson, Eric] Univ Sydney, Sydney, NSW 2006, Australia.
[Emerson, Eric] Univ Lancaster, Lancaster LA1 4YW, England.
RP Totsika, V (reprint author), Univ Warwick, CEDAR, Westwood Campus, Coventry CV4 7AL, W Midlands, England.
EM V.Totsika@warwick.ac.uk
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
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NR 54
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 422
EP 435
DI 10.1352/1944-7558-119.5.422
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000003
PM 25148056
ER
PT J
AU Shire, SY
Kasari, C
AF Shire, Stephanie Yoshiko
Kasari, Connie
TI Train the Trainer Effectiveness Trials of Behavioral Intervention for
Individuals With Autism: A Systematic Review
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE effectiveness trials; Train-the-Trainer; autism; intervention
ID JOINT ATTENTION INTERVENTION; SPECTRUM DISORDERS; PSYCHOSOCIAL
INTERVENTIONS; FOLLOW-UP; CHILDREN; PSYCHOTHERAPY; PRESCHOOLERS;
PROGRAM; MODEL
AB This systematic review examines train the trainer (TTT) effectiveness trials of behavioral interventions for individuals with autism spectrum disorder (ASD). Published methodological quality scales were used to assess studies including participant description, research design, intervention, outcomes, and analysis. Twelve studies including 9 weak quality quasi-experimental studies, 2 single-subject experimental design studies of moderate and weak quality, and 1 high quality randomized control trial were included. Overall, author reported effect sizes and calculation of improvement rate difference for SSRDs indicate positive effects of intervention across participant outcomes including cognition, language, and autism symptoms postcommunity delivered interventions primarily based in applied behavior analysis. Effects varied by children's developmental level.
C1 [Shire, Stephanie Yoshiko; Kasari, Connie] Univ Calif Los Angeles, Los Angeles, CA 90095 USA.
RP Shire, SY (reprint author), Univ Calif Los Angeles, Neuropsychiat Inst 67 448, 760 Westwood Plaza, Los Angeles, CA 90095 USA.
EM sypatterson@ucla.edu
CR American Academy of Cerebral Palsy and Developmental Medicine, 2008, METHODOLOGY TO DEVEL
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World Health Organization, 2005, MENTAL HEALTH POLICY
NR 34
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 436
EP 451
DI 10.1352/1944-7558-119.5.436
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000004
PM 25148057
ER
PT J
AU Lieberman-Betz, RG
Yoder, P
Stone, WL
Nahmias, AS
Carter, AS
Celimli-Aksoy, S
Messinger, DS
AF Lieberman-Betz, Rebecca G.
Yoder, Paul
Stone, Wendy L.
Nahmias, Allison S.
Carter, Alice S.
Celimli-Aksoy, Seniz
Messinger, Daniel S.
TI An Illustration of Using Multiple Imputation Versus Listwise Deletion
Analyses: The Effect of Hanen's "More Than Words'' on Parenting Stress
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE missing data analysis; multiple imputation; autism spectrum disorder;
early intervention; parent stress
ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL; MISSING-DATA;
YOUNG-CHILDREN; 2-YEAR-OLDS STAT; MATERNAL STRESS; SCREENING TOOL;
FAMILY STRESS; MENTAL-HEALTH; INTERVENTION
AB This investigation illustrates the effects of using different missing data analysis techniques to analyze effects of a parent-implemented treatment on stress in parents of toddlers with autism symptomatology. The analysis approaches yielded similar results when analyzing main effects of the intervention, but different findings for moderation effects. Using listwise deletion, the data supported an iatrogenic effect of Hanen's "More Than Words'' on stress in parents with high levels of pretreatment depressive symptoms. Using multiple imputation, a significant moderated treatment effect with uninterpretable regions of significance did not support an iatrogenic effect of treatment on parenting stress. Results highlight the need for caution in interpreting analyses that do not involve validated methods of handling missing data.
C1 [Lieberman-Betz, Rebecca G.; Yoder, Paul] Vanderbilt Univ, Peabody Coll, Dept Special Educ, Nashville, TN USA.
[Stone, Wendy L.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Nahmias, Allison S.] Vanderbilt Univ, Nashville, TN USA.
[Carter, Alice S.] Univ Massachusetts Boston, Dept Psychol, Boston, MA USA.
[Celimli-Aksoy, Seniz; Messinger, Daniel S.] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
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EM rglb@uga.edu
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NR 64
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD SEP
PY 2014
VL 119
IS 5
BP 472
EP 486
DI 10.1352/1944-7558-119.5.472
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XQ
UT WOS:000341271000006
PM 25148059
ER
PT J
AU Ogata, H
Ihara, H
Murakami, N
Gito, M
Kido, Y
Nagai, T
AF Ogata, Hiroyuki
Ihara, Hiroshi
Murakami, Nobuyuki
Gito, Masao
Kido, Yasuhiro
Nagai, Toshiro
TI Autism Spectrum Disorders and Hyperactive/Impulsive Behaviors in
Japanese Patients With Prader-Willi Syndrome: A Comparison Between
Maternal Uniparental Disomy and Deletion Cases
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Prader-Willi syndrome; chromosome 15q11-13; autism spectrum disorders;
maternal uniparental disomy 15 (mUPD); adolescents
ID PERVASIVE DEVELOPMENTAL DISORDERS; ABILITIES; CHILDREN
AB This study aims to compare maternal uniparental disomy 15 (mUPD) and a paternal deletion of 15q11-13 (DEL) of Prader-Willi syndrome (PWS) in regard to autism spectrum disorders (ASD). Forty-five Japanese individuals with PWS were recruited from a single recruitment center. The participants consisted of 22 children (aged from 6 to 12) and 23 adolescents (aged from 13 to 19). Six children and seven adolescents were confirmed as having mUPD. Sixteen children and 16 adolescents were confirmed as having DEL. Under blindness to the participants' genotypes, a single psychologist carried out behavioral and psychological assessments, including the Wechsler Intelligence Scales, Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), and ADHD-Rating Scale-IV (ADHD-RS-IV). Two comparisons were made: one between mUPD and DEL children and another between mUPD and DEL adolescents. In children, no significant differences were found between mUPD and DEL participants in terms of autistic (PARS childhood, P = 0.657) and impulsive behaviors (ADHD-RS-IV hyperactive/impulsive, P = 0.275). In adolescents, mUPD patients showed significantly more autistic symptomatology (PARS adolescent, P = 0.027) and significantly more impulsive behavior (ADHD-RS-IV hyperactive/impulsive, P = 0.01) than DEL patients. Our findings about Japanese PWS patients were consistent with previous researches from western countries not focused on Asian patients, indicating that mUPD cases would be more prone to ASD than DEL cases, regardless of ethnoregional differences. In addition, our data suggested that the behavioral difference between mUPD and DEL cases in terms of autistic and impulsive symptoms tend to be unrecognizable in their childhood. (C) 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
C1 [Ogata, Hiroyuki; Ihara, Hiroshi; Gito, Masao] Dokkyo Med Univ, Dept Psychiat, Koshigaya Hosp, Koshigaya, Japan.
[Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro] Dokkyo Med Univ, Dept Pediat, Koshigaya Hosp, Koshigaya, Japan.
[Gito, Masao] Ikezawa Hosp, Dept Psychiat, Hanyu, Japan.
RP Ihara, H (reprint author), Dokkyo Med Univ, Dept Psychiat, Koshigaya Hosp, Minami Koshigaya 2-1-50, Koshigaya, Japan.
EM cotoncb@dokkyomed.ac.jp
FU Juntendo Institute of Psychiatry [Heisei 25]
FX This research was supported by a grant for Research Support Foundation
from the Juntendo Institute of Psychiatry in the financial year 2013
(Heisei 25).
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD SEP
PY 2014
VL 164A
IS 9
BP 2180
EP 2186
DI 10.1002/ajmg.a.36615
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YO
UT WOS:000340669200007
PM 24850752
ER
PT J
AU Canetta, S
Sourander, A
Surcel, HM
Hinkka-Yli-Salomaki, S
Leiviska, J
Kellendonk, C
McKeague, IW
Brown, AS
AF Canetta, Sarah
Sourander, Andre
Surcel, Helja-Marja
Hinkka-Yli-Salomaki, Susanna
Leiviska, Jaana
Kellendonk, Christoph
McKeague, Ian W.
Brown, Alan S.
TI Elevated Maternal C-Reactive Protein and Increased Risk of Schizophrenia
in a National Birth Cohort
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PRENATAL IMMUNE ACTIVATION; INFLUENZA
EPIDEMIC; BRAIN-DEVELOPMENT; BIPOLAR DISORDER; ANIMAL-MODELS; EXPOSURE;
INFECTION; PREECLAMPSIA; PREGNANCY
AB Objective: The objective of the present study was to investigate an association between early gestational C-reactive protein, an established inflammatory biomarker, prospectively assayed in maternal sera, and schizophrenia in a large, national birth cohort with an extensive serum biobank.
Method: A nested case-control design from the Finnish Prenatal Study of Schizophrenia cohort was utilized. A total of 777 schizophrenia cases (schizophrenia, N=630; schizoaffective disorder, N=147) with maternal sera available for C-reactive protein testing were identified and matched to 777 control subjects in the analysis. Maternal C-reactive protein levels were assessed using a latex immunoassay from archived maternal serum specimens.
Results: Increasing maternal C-reactive protein levels, classified as a continuous variable, were significantly associated with schizophrenia in offspring (adjusted odds ratio=1.31, 95% confidence interval=1.10-1.56). This finding remained significant after adjusting for potential confounders, including maternal and parental history of psychiatric disorders, twin/singleton birth, urbanicity, province of birth, and maternal socioeconomic status.
Conclusions: This finding provides the most robust evidence to date that maternal inflammation may play a significant role in schizophrenia, with possible implications for identifying preventive strategies and pathogenic mechanisms in schizophrenia and other neurodevelopmental disorders.
C1 [Brown, Alan S.] Columbia Univ, Dept Psychiat, New York State Psychiat Inst, Med Ctr, New York, NY 10027 USA.
Columbia Univ, Dept Pharmacol, New York State Psychiat Inst, Med Ctr, New York, NY USA.
Univ Turku, Fac Med, Dept Child Psychiat, Turku, Finland.
Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
Natl Inst Hlth & Welf, Oulu, Finland.
Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland.
Columbia Univ, Mailman Sch Publ Hlth, Dept Biostat, New York, NY USA.
Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
RP Brown, AS (reprint author), Columbia Univ, Dept Psychiat, New York State Psychiat Inst, Med Ctr, New York, NY 10027 USA.
EM asb11@columbia.edu
FU NIMH [R01 MH-082052-05, K02 MH-065422-09, T32 MH-16434-31]; State
Research Institute; Sackler Institute Fellowship
FX Supported by grants R01 MH-082052-05 and K02 MH-065422-09 (to Dr. Brown)
from NIMH and the State Research Institute and grant T32 MH-16434-31 (to
Dr. Canetta) from NIMH and the Sackler Institute Fellowship.
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NR 49
TC 6
Z9 6
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 0002-953X
EI 1535-7228
J9 AM J PSYCHIAT
JI Am. J. Psychiat.
PD SEP
PY 2014
VL 171
IS 9
BP 960
EP 968
DI 10.1176/appi.ajp.2014.13121579
PG 9
WC Psychiatry
SC Psychiatry
GA AO1MU
UT WOS:000341077000013
PM 24969261
ER
PT J
AU McCoy, BM
Rickert, ME
Class, QA
Larsson, H
Lichtenstein, P
D'Onofrio, BM
AF McCoy, Brittany M.
Rickert, Martin E.
Class, Quetzal A.
Larsson, Henrik
Lichtenstein, Paul
D'Onofrio, Brian M.
TI Mediators of the association between parental severe mental illness and
offspring neurodevelopmental problems
SO ANNALS OF EPIDEMIOLOGY
LA English
DT Article
DE Attention deficit hyperactivity disorder; Autism spectrum disorder;
Infant; Small for gestational age; Birth weight; Gestational age
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS;
ADVERSE PREGNANCY OUTCOMES; LOW-BIRTH-WEIGHT; RISK-FACTORS;
PSYCHIATRIC-DISORDERS; BIPOLAR DISORDER; PRETERM BIRTH;
BRAIN-DEVELOPMENT; GESTATIONAL-AGE
AB Purpose: Parental severe mental illness (SMI) is associated with an increased risk of offspring autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). We conducted a study to examine the extent to which risk of preterm birth, low birth weight, and small for gestational age mediated this association.
Methods: We obtained data on offspring born 1992-2001 in Sweden (n = 870,017) through the linkage of multiple population-based registers. We used logistic and Cox regression to assess the associations between parental SMI, adverse pregnancy outcomes, and offspring ASD and ADHD, as well as tested whether adverse pregnancy outcomes served as mediators.
Results: After controlling for measured covariates, maternal and paternal SMI were associated with an increased risk for preterm birth, low birth weight, and gestational age, and for offspring ASD and ADHD. These pregnancy outcomes were also associated with an increased risk of ASD and ADHD. We found that pregnancy outcomes did not mediate the association between parental SMI and offspring ASD and ADHD, as there was no substantial change in magnitude of the risk estimates after controlling for pregnancy outcomes.
Conclusions: Parental SMI and adverse pregnancy outcomes appear to be independent risk factors for offspring ASD and ADHD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [McCoy, Brittany M.; Rickert, Martin E.; Class, Quetzal A.; D'Onofrio, Brian M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP D'Onofrio, BM (reprint author), Indiana Univ, Dept Psychol & Brain Sci, 1101 East 10th St, Bloomington, IN 47405 USA.
EM bmdonofr@indiana.edu
RI Maattanen, Laura/N-5424-2014
FU National Institute of Child Health and Human Development [HD061817];
National Institute of Mental Health [MH094011]; Swedish council for
working life and social research; Swedish Research Council (Medicine);
Swedish Society of Medicine
FX The study was supported by grants from the National Institute of Child
Health and Human Development (HD061817), National Institute of Mental
Health (MH094011), the Swedish council for working life and social
research, the Swedish Research Council (Medicine), and the Swedish
Society of Medicine.
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NR 47
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1047-2797
EI 1873-2585
J9 ANN EPIDEMIOL
JI Ann. Epidemiol.
PD SEP
PY 2014
VL 24
IS 9
BP 629
EP 634
DI 10.1016/j.annepidem.2014.05.010
PG 6
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AN8OX
UT WOS:000340864600001
PM 25037304
ER
PT J
AU Yousafzai, AK
Lynch, P
Gladstone, M
AF Yousafzai, Aisha K.
Lynch, Paul
Gladstone, Melissa
TI Moving beyond prevalence studies: screening and interventions for
children with disabilities in low-income and middle-income countries
SO ARCHIVES OF DISEASE IN CHILDHOOD
LA English
DT Article
ID RANDOMIZED CONTROLLED-TRIAL; AUTISM SPECTRUM DISORDER; KEY INFORMANT
METHOD; CEREBRAL-PALSY; YOUNG-CHILDREN; CHILDHOOD DISABILITY; PARENTS
CONCERNS; 10 QUESTIONS; INTELLECTUAL DISABILITIES; NEUROLOGICAL
IMPAIRMENT
AB Research understanding the lives of children with disabilities in low-income and middle-income countries has predominantly focused on prevalence studies with little progress on evidence-based service development. At the same time, global attention in child health has shifted from child survival strategies to those that bring child survival and development together. This review examines whether intervention research can be better aligned with current theoretical constructs of disability and international guidelines that advocate for the realisation of rights for children with disabilities and inclusive early childhood development.
C1 [Yousafzai, Aisha K.] Aga Khan Univ, Dept Paediat & Child Hlth, Karachi 74800, Pakistan.
[Lynch, Paul] Univ Birmingham, Sch Educ, Dept Inclus, Birmingham B15 2TT, W Midlands, England.
[Gladstone, Melissa] Univ Liverpool, Dept Women & Childrens Hlth, Inst Translat Med, Liverpool L69 3BX, Merseyside, England.
RP Yousafzai, AK (reprint author), Aga Khan Univ, Dept Paediat & Child Hlth, Stadium Rd,POB 3500, Karachi 74800, Pakistan.
EM aisha.yousafzai@aku.edu
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NR 84
TC 3
Z9 3
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0003-9888
EI 1468-2044
J9 ARCH DIS CHILD
JI Arch. Dis. Child.
PD SEP
PY 2014
VL 99
IS 9
BP 840
EP 848
DI 10.1136/archdischild-2012-302066
PG 9
WC Pediatrics
SC Pediatrics
GA AN8BN
UT WOS:000340826300012
PM 24647995
ER
PT J
AU Saloviita, T
Leppanen, M
Ojalammi, U
AF Saloviita, Timo
Leppanen, Marjatta
Ojalammi, Ulla
TI Authorship in Facilitated Communication: An Analysis of 11 Cases
SO AUGMENTATIVE AND ALTERNATIVE COMMUNICATION
LA English
DT Article
DE Autism; Facilitated communication; Intellectual disabilities;
Augmentative and alternative communication
ID AUTISM; GRAMMAR; LEXICON; AAC
AB We studied the authorship of messages produced through facilitated communication (FC) for all users of FC in two comprehensive schools in a small city in Finland. The participants were 11 children with intellectual disabilities, including autism, all having used FC from 1 - 3 years. The test conditions involved open and blind information- passing tasks in which the participants were directed to write down the contents of written or pictorial stimuli. The results failed to validate FC as a method of communication for any participant or facilitator. An analysis of the messages produced under the FC condition revealed a large degree of facilitator infl uence on the content of the messages produced. Additionally, FC impaired the performance of the two participants who had previously demonstrated some independent writing skills.
C1 [Saloviita, Timo] Univ Jyvaskyla, Dept Teacher Educ, FIN-40014 Jyvaskyla, Finland.
[Ojalammi, Ulla] Nuoliala Primary Sch, Tampere, Finland.
RP Saloviita, T (reprint author), Univ Jyvaskyla, Dept Teacher Educ, POB 35, FIN-40014 Jyvaskyla, Finland.
EM timo.saloviita@jyu.fi
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NR 36
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0743-4618
EI 1477-3848
J9 AUGMENT ALTERN COMM
JI Augment. Altern. Commun.
PD SEP
PY 2014
VL 30
IS 3
BP 213
EP 225
DI 10.3109/07434618.2014.927529
PG 13
WC Audiology & Speech-Language Pathology; Rehabilitation
SC Audiology & Speech-Language Pathology; Rehabilitation
GA AO4JE
UT WOS:000341302500003
PM 24946681
ER
PT J
AU Langen, M
Bos, D
Noordermeer, DS
Nederveen, H
van Engeland, H
Durston, S
AF Langen, Marieke
Bos, Dienke
Noordermeer, D. S.
Nederveen, Hilde
van Engeland, Herman
Durston, Sarah
TI Changes in the Development of Striatum Are Involved in Repetitive
Behavior in Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Autism; brain development; corticostriatal circuitry; insistence on
sameness; repetitive behavior; striatum
ID SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; INHIBITORY CONTROL; BRAIN
OVERGROWTH; CAUDATE-NUCLEUS; BASAL GANGLIA; DAT1 GENOTYPE; VOLUME;
CHILDREN; TRAJECTORIES
AB Background: Repetitive behavior is a core feature of autism and has been linked to differences in striatum. In addition, the brain changes associated with autism appear to vary with age. However, most studies investigating striatal differences in autism are cross-sectional, limiting inferences on development. In this study, we set out to 1) investigate striatal development in autism, using a longitudinal design; and 2) examine the relationship between striatal development and repetitive behavior.
Methods: We acquired longitudinal structural magnetic resonance imaging scans from 86 individuals (49 children with autism, 37 matched control subjects). Each individual was scanned twice, with a mean scan interval time of 2.4 years. Mean age was 9.9 years at time 1 and 12.3 years at time 2. Striatal structures were traced manually with high reliability. Multivariate analyses of variance were used to investigate differences in brain development between diagnostic groups. To examine the relationship with behavior, correlations between changes in brain volumes and clinical measures were calculated.
Results: Our results showed an increase in the growth rate of striatal structures for individuals with autism compared with control subjects. The effect was specific to caudate nucleus, where growth rate was doubled. Second, faster striatal growth was correlated with more severe repetitive behavior (insistence on sameness) at the preschool age.
Conclusions: This longitudinal study of brain development in autism confirms the involvement of striatum in repetitive behavior. Furthermore, it underscores the significance of brain development in autism, as the severity of repetitive behavior was related to striatal growth, rather than volume per se.
C1 [Langen, Marieke; Bos, Dienke; Noordermeer, D. S.; Nederveen, Hilde; van Engeland, Herman; Durston, Sarah] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, NICHE Lab, Utrecht, Netherlands.
RP Langen, M (reprint author), Univ Med Ctr Utrecht, Julius Ctr, HP STR 6,131 Heidelber Glaan 100, NL-3584 CX Utrecht, Netherlands.
EM m.langen@umcutrecht.nl
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NR 60
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 405
EP 411
DI 10.1016/j.biopsych.2013.08.013
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800011
PM 24090791
ER
PT J
AU Solomon, M
Yoon, JH
Ragland, JD
Niendam, TA
Lesh, TA
Fairbrother, W
Carter, CS
AF Solomon, Marjorie
Yoon, Jong H.
Ragland, J. Daniel
Niendam, Tara A.
Lesh, Tyler A.
Fairbrother, Wonja
Carter, Cameron S.
TI The Development of the Neural Substrates of Cognitive Control in
Adolescents with Autism Spectrum Disorders
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Adolescence; autism spectrum disorders; cognitive control; development;
fMRI; response inhibition
ID HIGH-FUNCTIONING AUTISM; ANTERIOR CINGULATE CORTEX;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; WORKING-MEMORY; EXECUTIVE
FUNCTION; RESPONSE-INHIBITION; CONNECTIVITY MRI; CORPUS-CALLOSUM;
CONTROL NETWORK; MOTOR CONTROL
AB Background: Autism spectrum disorders (ASDs) involve impairments in cognitive control. In typical development (TYP), neural systems underlying cognitive control undergo substantial maturation during adolescence. Development is delayed in adolescents with ASD. Little is known about the neural substrates of this delay.
Methods: We used event-related functional magnetic resonance imaging and a cognitive control task involving overcoming a prepotent response tendency to examine the development of cognitive control in young (ages 12-15; n = 13 with ASD and n = 13 with TYP) and older (ages 16-18; n = 14 with ASD and n = 14 with TYP) adolescents with whole-brain voxelwise univariate and task-related functional connectivity analyses.
Results: Older ASD and TYP showed reduced activation in sensory and premotor areas relative to younger ones. The older ASD group showed reduced left parietal activation relative to TYP. Functional connectivity analyses showed a significant age by group interaction with the older ASD group exhibiting increased functional connectivity strength between the ventrolateral prefrontal cortex and the anterior cingulate cortex, bilaterally. This functional connectivity strength was related to task performance in ASD, whereas that between dorsolateral prefrontal cortex and parietal cortex (Brodmann areas 9 and 40) was related to task performance in TYP.
Conclusions: Adolescents with ASD rely more on reactive cognitive control, involving last-minute conflict detection and control implementation by the anterior cingulate cortex and ventrolateral prefrontal cortex, versus proactive cognitive control requiring processing by dorsolateral prefrontal cortex and parietal cortex. Findings await replication in larger longitudinal studies that examine their functional consequences and amenability to intervention.
C1 [Solomon, Marjorie; Yoon, Jong H.; Ragland, J. Daniel; Niendam, Tara A.; Lesh, Tyler A.; Fairbrother, Wonja; Carter, Cameron S.] Univ Calif, Dept Psychiat & Behav Sci, Davis, CA USA.
[Solomon, Marjorie; Fairbrother, Wonja] MIND Inst, Sacramento, CA USA.
[Solomon, Marjorie; Yoon, Jong H.; Ragland, J. Daniel; Niendam, Tara A.; Lesh, Tyler A.; Carter, Cameron S.] Univ Calif Davis, Imaging Res Ctr, Sacramento, CA 95817 USA.
RP Solomon, M (reprint author), UC Davis Hlth Syst, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM marjorie.solomon@ucdmc.ucdavis.edu
FU National Institute of Mental Health [1-K-08 MH074967-01, 2R01
MH059883-05A1, 1R24MH081807, K23MH087708, R01MH084895, K-08]; Building
Interdisciplinary Research Careers in Women's Health Award - National
Institute of Child Health and Human Development, Office of Research on
Women's Health, Office of Dietary Supplements [K12 HD051958]; National
Institute of Aging; National Alliance for Research on Schizophrenia and
Depression (Atherton Foundation); GlaxoSmithKline
FX This work was supported by a K-08 Award from the National Institute of
Mental Health (1-K-08 MH074967-01); a Building Interdisciplinary
Research Careers in Women's Health Award (K12 HD051958) funded by the
National Institute of Child Health and Human Development, Office of
Research on Women's Health, Office of Dietary Supplements, and the
National Institute of Aging; and a Pilot Award from the National
Alliance for Research on Schizophrenia and Depression (Atherton
Foundation) to Marjorie Solomon. During the time of the study, Dr.
Carter was supported by the National Institute of Mental Health (2R01
MH059883-05A1) and (1R24MH081807). Dr. Niendam was supported by the
National Institute of Mental Health (K23MH087708). Dr. Ragland was
supported by the National Institute of Mental Health (R01MH084895,
Ragland, Principal Investigator).Dr. Carter reports having been a
consultant for Pfizer, Merck, Lilly, and Servier. He also has received
funding from GlaxoSmithKline. Drs. Solomon, Yoon, Ragland, Niendam, and
Lesh and Ms. Fair-brother report no biomedical financial interests or
potential conflicts of interest.
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NR 106
TC 4
Z9 4
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 1
PY 2014
VL 76
IS 5
BP 412
EP 421
DI 10.1016/j.biopsych.2013.08.036
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WQ
UT WOS:000340886800012
PM 24209777
ER
PT J
AU Nuske, HJ
Vivanti, G
Hudry, K
Dissanayake, C
AF Nuske, Heather J.
Vivanti, Giacomo
Hudry, Kristelle
Dissanayake, Cheryl
TI Pupillometry reveals reduced unconscious emotional reactivity in autism
SO BIOLOGICAL PSYCHOLOGY
LA English
DT Article
DE Autism; Emotion; Pupil dilation; Unconscious; Subliminal; Implicit;
Backwards masking; Eye tracking; Autonomic nervous system; Physiological
responding; Pupillometry
ID FACIAL EXPRESSIONS; SPECTRUM DISORDERS; BACKWARD-MASKING;
YOUNG-CHILDREN; CONSCIOUS PERCEPTION; ASPERGER-SYNDROME; NEURAL
CIRCUITRY; HUMAN AMYGDALA; PUPIL SIZE; FACE
AB Recent theoretical conceptualisations have suggested that emotion processing impairments in autism stem from disruption to the sub-cortical, rapid emotion-processing system. We argue that a clear way to ascertain whether this system is affected in autism is by measuring unconscious emotional reactivity. Using backwards masking, we presented fearful expressions non-consciously (subliminally) as well as consciously (supraliminally), and measured pupillary responses as an index of emotional reactivity in 19 children with autism and 19 typically developing children, aged 2-5 years. The pupillary responses of the children with autism revealed reduced unconscious emotional reactivity, with no group differences on consciously presented emotion. Together, these results indicate a hyporesponsiveness to non-consciously presented emotion suggesting a fundamental difference in emotion processing in autism, which requires consciousness and more time. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Nuske, Heather J.; Vivanti, Giacomo; Hudry, Kristelle; Dissanayake, Cheryl] La Trobe Univ, Sch Psychol, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Bundoora, Vic 3086, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Sch Psychol, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
EM h.nuske@latrobe.edu.au; g.vivanti@latrobe.edu.au;
k.hudry@latrobe.edu.au; c.dissanayake@latrobe.edu.au
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NR 118
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0301-0511
EI 1873-6246
J9 BIOL PSYCHOL
JI Biol. Psychol.
PD SEP
PY 2014
VL 101
BP 24
EP 35
DI 10.1016/j.biopsycho.2014.07.003
PG 12
WC Psychology, Biological; Behavioral Sciences; Psychology; Psychology,
Experimental
SC Psychology; Behavioral Sciences
GA AN8FM
UT WOS:000340838800005
PM 25017502
ER
PT J
AU Gabriele, S
Sacco, R
Cerullo, S
Neri, C
Urbani, A
Tripi, G
Malvy, J
Barthelemy, C
Bonnet-Brilhault, F
Persico, AM
AF Gabriele, Stefano
Sacco, Roberto
Cerullo, Sonia
Neri, Cristina
Urbani, Andrea
Tripi, Gabriele
Malvy, Joelle
Barthelemy, Catherine
Bonnet-Brilhault, Frederique
Persico, Antonio M.
TI Urinary p-cresol is elevated in young French children with autism
spectrum disorder: a replication study
SO BIOMARKERS
LA English
DT Article
DE Gut flora; neurotoxicity; organic contaminants; p-cresylsulfate;
pervasive developmental disorders
ID INTESTINAL PERMEABILITY; DEVELOPMENTAL DISORDERS; PROPIONIC-ACID;
CRESYLSULPHATE; BEHAVIOR; DISEASE; ABNORMALITIES; BIOMARKERS; SULFATION;
SYMPTOMS
AB The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex-and age-matched controls (p<0.05). This increase was limited to ASD children aged <= 8 years (p<0.01), and not older (p=0.17). Urinary levels of p-cresol and p-cresylsulfate were associated with stereotypic, compulsive/repetitive behaviors (p<0.05), although not with overall autism severity. These results confirm the elevation of urinary p-cresol in a sizable set of small autistic children and spur interest into biomarker roles for p-cresol and p-cresylsulfate in autism.
C1 [Gabriele, Stefano; Sacco, Roberto; Cerullo, Sonia; Persico, Antonio M.] Univ Campus Biomed, Unit Child & Adolescent NeuroPsychiat, I-00128 Rome, Italy.
[Gabriele, Stefano; Sacco, Roberto; Cerullo, Sonia; Persico, Antonio M.] Univ Campus Biomed, Lab Mol Psychiat & Neurogenet, I-00128 Rome, Italy.
[Neri, Cristina; Urbani, Andrea] Univ Roma Tor Vergata, Dept Internal Med, Rome, Italy.
[Neri, Cristina; Urbani, Andrea] IRCCS Fdn S Lucia, Dept Expt Neurosci, Rome, Italy.
[Tripi, Gabriele] Univ Palermo, Dept PROSAMI, I-90133 Palermo, Italy.
[Tripi, Gabriele] CH Chinon, Childhood Psychiat Serv Neurodev Disorders, Chinon, France.
[Malvy, Joelle; Barthelemy, Catherine; Bonnet-Brilhault, Frederique] Univ Tours, Hop Bretonneau, Imagerie & Cerveau INSERM, U930, Tours, France.
[Persico, Antonio M.] Mafalda Luce Ctr Pervas Dev Disorders, Milan, Italy.
RP Persico, AM (reprint author), Univ Campus Biomed, Unit Child & Adolescent NeuroPsychiat, Via Alvaro del Portillo 21, I-00128 Rome, Italy.
EM s.gabriele@unicampus.it; r.sacco@unicampus.it; a.persico@unicampus.it
FU Italian Ministry for University, Scientific Research and Technology
[2008BACT54_002]; Italian Ministry of Health (CCM program, progetto
NIDA); Fondazione Gaetano e Mafalda Luce (Milan, Italy); Autism Aid
ONLUS (Naples, Italy); Autism Speaks (Princeton, NJ); Autism Research
Institute (San Diego, CA); European Union (Innovative Medicines
Initiative Joint Undertaking, EU-AIMS) [115300]
FX This work was financially supported by the Italian Ministry for
University, Scientific Research and Technology (n.2008BACT54_002), the
Italian Ministry of Health (CCM program 2012, progetto NIDA), the
Fondazione Gaetano e Mafalda Luce (Milan, Italy), Autism Aid ONLUS
(Naples, Italy), Autism Speaks (Princeton, NJ), the Autism Research
Institute (San Diego, CA), and the European Union (Innovative Medicines
Initiative Joint Undertaking, EU-AIMS, n. 115300). The authors declare
no conflicts of interest. The authors alone are responsible for the
content and writing of the paper.
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NR 60
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1354-750X
EI 1366-5804
J9 BIOMARKERS
JI Biomarkers
PD SEP
PY 2014
VL 19
IS 6
BP 463
EP 470
DI 10.3109/1354750X.2014.936911
PG 8
WC Biotechnology & Applied Microbiology; Toxicology
SC Biotechnology & Applied Microbiology; Toxicology
GA AN7GZ
UT WOS:000340768500005
PM 25010144
ER
PT J
AU Roos, L
Fang, M
Dali, C
Jensen, H
Christoffersen, N
Wu, B
Zhang, J
Xu, R
Harris, P
Xu, X
Gronskov, K
Tumer, Z
AF Roos, L.
Fang, M.
Dali, C.
Jensen, H.
Christoffersen, N.
Wu, B.
Zhang, J.
Xu, R.
Harris, P.
Xu, X.
Gronskov, K.
Tumer, Z.
TI A homozygous mutation in a consanguineous family consolidates the role
of ALDH1A3 in autosomal recessive microphthalmia
SO CLINICAL GENETICS
LA English
DT Article
DE ALDH1A3; exome sequencing; microphtalmia; retinoic acid
ID ANOPHTHALMIA/MICROPHTHALMIA; DEHYDROGENASE; FEATURES
AB Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. In a consanguineous family where three of the five siblings were affected with microphthalmia/coloboma, we identified a novel homozygous missense mutation in ALDH1A3 using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented with normal development. This study contributes further to the description of the clinical spectrum associated with ALDH1A3 mutations, and illustrates the interfamilial clinical variation observed in individuals with ALDH1A3 mutations.
C1 [Roos, L.; Gronskov, K.; Tumer, Z.] Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, DK-2600 Glostrup, Denmark.
[Fang, M.; Wu, B.; Zhang, J.; Xu, X.] BGI Shenzhen, Dept Mendelian Disorder Res, Shenzhen, Peoples R China.
[Dali, C.] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark.
[Jensen, H.; Christoffersen, N.] Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, Eye Clin, DK-2600 Glostrup, Denmark.
[Xu, R.] BGI Europe, Copenhagen, Denmark.
[Harris, P.] Tech Univ Denmark, Dept Chem, DK-2800 Lyngby, Denmark.
[Gronskov, K.] Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark.
RP Roos, L (reprint author), Copenhagen Univ Hosp, Rigshosp, Kennedy Ctr, Gl Landevej 7, DK-2600 Glostrup, Denmark.
EM laura.kirstine.soenderberg.roos@regionh.dk
RI Harris, Pernille/G-7289-2011
OI Harris, Pernille/0000-0002-6806-4903
FU Shenzhen Municipal Government of China [GJHZ20130417140916986]
FX The project conformed to the tenets of the Declaration of Helsinki and
was approved by the Regional Scientific Ethical Committee for
Copenhagen, Denmark. Written informed consent was obtained. This study
was supported by the Shenzhen Municipal Government of China (No.
GJHZ20130417140916986).
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NR 19
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD SEP
PY 2014
VL 86
IS 3
BP 276
EP 281
DI 10.1111/cge.12277
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AN8YP
UT WOS:000340892300013
PM 24024553
ER
PT J
AU Carton, AM
Smith, AD
AF Carton, Amelia Myri
Smith, Alastair D.
TI Assessing the relationship between eating disorder psychopathology and
autistic traits in a non-clinical adult population
SO EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
LA English
DT Article
DE Eating disorders; Autism; Eat-26; Autism quotient; Broader phenotype
ID WEAK CENTRAL COHERENCE; SPECTRUM QUOTIENT AQ; ANOREXIA-NERVOSA;
BULIMIA-NERVOSA; ASPERGER SYNDROME; COGNITIVE-STYLE; CHILDREN;
INDIVIDUALS; CHILDHOOD; MIND
AB Previous research demonstrates a genetic and behavioural link between eating disorders and autism spectrum disorders, and a recent study (Coombs et al. in Br J Clin Psychol 50:326-338, 2011) extends this link to typical populations, showing a positive correlation between behaviours in typically developing children. The purpose of the present study was to examine whether this relationship continues beyond development, by studying the link between behaviours in a non-clinical adult population.
We examined associations between performance on measures relating to autistic traits and disordered eating. Undergraduate students, equally balanced by gender and by subject studied (i.e. humanity or science), completed three tasks: to measure autistic traits, participants were administered the Embedded Figures Test (EFT) and the Autism-Spectrum Quotient (AQ). Eating disorder symptomatology was measured by the Eating Attitudes Test (Eat-26).
Our data revealed a significant positive correlation between scores on the AQ and Eat-26. Multiple linear regressions showed that higher scores on the AQ were particularly associated with higher scores on the Bulimia & Food Preoccupation subscale of the Eat-26. EFT performance was positively related to behaviours associated with autism and eating disorders, although not reliably so.
These data support the broader link between autistic traits and disordered eating in the non-clinical population, and demonstrate that it extends into adulthood (a time at which autistic behaviours can decrease). This work carries implications for the development of cognitive therapies for people with eating disorders.
C1 [Carton, Amelia Myri; Smith, Alastair D.] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Smith, AD (reprint author), Univ Nottingham, Sch Psychol, Univ Pk, Nottingham NG7 2RD, England.
EM alastair.smith@nottingham.ac.uk
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 54
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1124-4909
EI 1590-1262
J9 EAT WEIGHT DISORD-ST
JI Eat. Weight Disord.-Stud. Anorex.
PD SEP
PY 2014
VL 19
IS 3
BP 285
EP 293
DI 10.1007/s40519-013-0086-z
PG 9
WC Psychiatry
SC Psychiatry
GA AO2UN
UT WOS:000341181600002
PM 24272141
ER
PT J
AU Diolordi, L
del Balzo, V
Bernabei, P
Vitiello, V
Donini, LM
AF Diolordi, Laura
del Balzo, Valeria
Bernabei, Paola
Vitiello, Valeria
Donini, Lorenzo Maria
TI Eating habits and dietary patterns in children with autism
SO EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
LA English
DT Article
DE Eating behavior inventory; Food consumption; Children with autism;
Nutrition
ID SPECTRUM DISORDERS; BEHAVIOR; BRAIN
AB The children with autism have feeding problems such as chewing, preference for the same food that often are responsible for the nutrient imbalance. In this study, we have analyzed the differences in food consumption (food frequency) and eating behavior (CEBI test) between children with autism and their typically developing peers. A statistically significant difference was observed between the two groups for the consumption of milk, yogurt, pulses, rice, and fruit juices (p a parts per thousand currency sign 0,005). We observed a significant difference in the analysis of CEBI results when considering the 6- to 9.5-year-aged subgroup with autism vs control subgroup (103.50 and 110.14, respectively). The advices given by nutritionists have proved crucial to improve eating habits in children with autism, in the follow-up.
C1 [Diolordi, Laura; del Balzo, Valeria; Vitiello, Valeria; Donini, Lorenzo Maria] Univ Roma La Sapienza, Dept Expt Med, Res Unit Food Sci & Human Nutr, I-00185 Rome, Italy.
[Bernabei, Paola] Univ Roma La Sapienza, Dept Pediat & Pediat Neuropsychiat, I-00185 Rome, Italy.
RP del Balzo, V (reprint author), Univ Roma La Sapienza, Dept Expt Med, Res Unit Food Sci & Human Nutr, Ple Aldo Moro 5, I-00185 Rome, Italy.
EM valeria.delbalzo@uniroma1.it
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NR 22
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1124-4909
EI 1590-1262
J9 EAT WEIGHT DISORD-ST
JI Eat. Weight Disord.-Stud. Anorex.
PD SEP
PY 2014
VL 19
IS 3
BP 295
EP 301
DI 10.1007/s40519-014-0137-0
PG 7
WC Psychiatry
SC Psychiatry
GA AO2UN
UT WOS:000341181600003
PM 24981567
ER
PT J
AU Park, S
Park, JE
Cho, SC
Kim, BN
Shin, MS
Kim, JW
Cho, IH
Kim, SA
Park, M
Park, TW
Son, JW
Chung, US
Yoo, HJ
AF Park, Subin
Park, Jong-Eun
Cho, Soo-Churl
Kim, Bung-Nyun
Shin, Min-Sup
Kim, Jae-Won
Cho, In Hee
Kim, Soon Ae
Park, Mira
Park, Tae-Won
Son, Jung-Woo
Chung, Un-Sun
Yoo, Hee Jeong
TI No association of the norepinephrine transporter gene (SLC6A2) and
cognitive and behavioural phenotypes of patients with autism spectrum
disorder
SO EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; SLC6A2; Haplotype; Phenotype
ID DEFICIT HYPERACTIVITY DISORDER; TOURETTES-SYNDROME; ADHD; NET
AB We examined the association between the norepinephrine transporter (SLC6A2) gene and autism spectrum disorder (ASD) in a Korean population. In addition, we investigated which phenotypes of ASD are best attributed to the genotype of SLC6A2. A total of 184 subjects with ASD, their 156 unaffected siblings and both biological parents were recruited through university hospitals. We used the Autism Diagnostic Interview-Revised, the Aberrant Behaviour Checklist (ABC), the Child Behaviour Checklist (CBCL), the Stroop Colour-Word Interference Test and the Wisconsin Card Sorting Test (WCST) as quantitative measures of the ASD phenotypes. The associations between the quantitative measures and specific single-nucleotide polymorphisms (SNPs) were tested with linear regression analyses. We did not find any evidence of the over-transmission of either allele of the 10SLC6A2 SNPs in the DFAM test. At an empirical p value < 0.05, findings that were consistent between the linear regression analyses and the QFAM tests were the positive associations between the A allele of rs36020 and attention problems on the CBCL and stereotypical behaviours on the ABC and between the C allele of rs1814270 and the number of trials required to complete the first WCST category. However, these associations did not remain after correction for multiple testing. The study results of this study do not support the association between the SLC6A2 and the diagnosis or phenotype of ASD. However, the study must be replicated in larger populations and with using more genetic markers.
C1 [Park, Subin; Cho, Soo-Churl; Kim, Bung-Nyun; Shin, Min-Sup; Kim, Jae-Won] Seoul Natl Univ, Coll Med, Dept Psychiat, Div Child & Adolescent Psychiat, Seoul, South Korea.
[Park, Jong-Eun; Yoo, Hee Jeong] Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, Gyeonggi Do, South Korea.
[Cho, In Hee] Samsung Child Dev Res Ctr, Dept Psychiat, Songnam, South Korea.
[Kim, Soon Ae] Eulji Univ, Dept Pharmacol, Sch Med, Songnam, South Korea.
[Park, Mira] Eulji Univ, Dept Prevent Med, Songnam, South Korea.
[Park, Tae-Won] Chonbuk Natl Univ Hosp, Dept Psychiat, Jeonju, South Korea.
[Son, Jung-Woo] Chungbuk Natl Univ Hosp, Dept Psychiat, Cheongju, South Korea.
[Chung, Un-Sun] Kyungpook Natl Univ Hosp, Dept Psychiat, Taegu, South Korea.
RP Yoo, HJ (reprint author), Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, Gyeonggi Do, South Korea.
EM hjyoo@snu.ac.kr
FU Korea Healthcare Technology R&D project, Ministry of Health & Welfare,
Republic of Korea [A120029]
FX This work was supported by the Korea Healthcare Technology R&D project,
Ministry of Health & Welfare, Republic of Korea [Grant Number A120029].
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NR 26
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 0940-1334
EI 1433-8491
J9 EUR ARCH PSY CLIN N
JI Eur. Arch. Psych. Clin. Neurosci.
PD SEP
PY 2014
VL 264
IS 6
BP 507
EP 515
DI 10.1007/s00406-013-0480-6
PG 9
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8UW
UT WOS:000340881500005
PM 24381062
ER
PT J
AU Soler-Alfonso, C
Carvalho, CMB
Ge, J
Roney, EK
Bader, PI
Kolodziejska, KE
Miller, RM
Lupski, JR
Stankiewicz, P
Cheung, SW
Bi, WM
Schaaf, CP
AF Soler-Alfonso, Claudia
Carvalho, Claudia M. B.
Ge, Jun
Roney, Erin K.
Bader, Patricia I.
Kolodziejska, Katarzyna E.
Miller, Rachel M.
Lupski, James R.
Stankiewicz, Pawel
Cheung, Sau Wai
Bi, Weimin
Schaaf, Christian P.
TI CHRNA7 triplication associated with cognitive impairment and
neuropsychiatric phenotypes in a three-generation pedigree
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE dosage sensitivity; copy number variation; cholinergic nervous system;
autism spectrum disorder
ID COPY NUMBER VARIANTS; GENOME-WIDE ANALYSIS; MENTAL-RETARDATION; 15Q13.3;
REARRANGEMENTS; DUPLICATION; RECURRENT; MICRODELETION; MECHANISMS;
SCHIZOPHRENIA
AB Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. We present the first report of CHRNA7 triplication. Three generations of a family affected with various neuropsychiatric phenotypes, including anxiety, bipolar disorder, developmental delay and ID, were studied with array comparative genomic hybridization (aCGH). High-resolution aCGH revealed a 650-kb triplication at chromosome 15q13.3 encompassing the CHRNA7 gene, which encodes the alpha7 subunit of the neuronal nicotinic acetylcholine receptor. A small duplication precedes the triplication at the proximal breakpoint junction, and analysis of the breakpoint indicates that the triplicated segment is in an inverted orientation with respect to the duplication. CHRNA7 triplication appears to occur by a replication-based mechanism that produces inverted triplications embedded within duplications. Co-segregation of the CHRNA7 triplication with neuropsychiatric and cognitive phenotypes provides further evidence for dosage sensitivity of CHRNA7.
C1 [Soler-Alfonso, Claudia] Univ Texas Hlth Sci Ctr Houston, Div Med Genet, Dept Pediat, Houston, TX 77030 USA.
[Carvalho, Claudia M. B.; Ge, Jun; Roney, Erin K.; Kolodziejska, Katarzyna E.; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Bi, Weimin; Schaaf, Christian P.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Carvalho, Claudia M. B.] Fiocruz MS, Ctr Pesquisas Rene Rachou, Belo Horizonte, MG, Brazil.
[Bader, Patricia I.; Miller, Rachel M.] Genet Ctr, Parkview Hlth Labs, Ft Wayne, IN USA.
[Lupski, James R.] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA.
[Schaaf, Christian P.] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA.
RP Schaaf, CP (reprint author), Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, 1250 Moursund St,Suite 1350, Houston, TX 77030 USA.
EM Schaaf@bcm.edu
FU Doris Duke Clinical Scientist Development Award; NIH [HD037283]; US
National Institute of Neurological Disorders and Stroke [NS058529]
FX We are indebted to the family who participated in this study. Dr
Schaaf's work is generously supported by the Joan and Stanford Alexander
Family. Dr Schaaf is also a recipient of a Doris Duke Clinical Scientist
Development Award. NIH grant HD037283 supported Dr Ge's work in the
laboratory of Dr Arthur Beaudet. In addition, this work was supported in
part by US National Institute of Neurological Disorders and Stroke grant
NS058529 to JRL.
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Vinals X, 2012, DRUG ALCOHOL DEPEN, V122, P247, DOI 10.1016/j.drugalcdep.2011.09.027
Williams NM, 2012, AM J PSYCHIAT, V169, P195, DOI 10.1176/appi.ajp.2011.11060822
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NR 32
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD SEP
PY 2014
VL 22
IS 9
BP 1071
EP 1076
DI 10.1038/ejhg.2013.302
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AN4SA
UT WOS:000340577600004
PM 24424125
ER
PT J
AU Wang, Y
Fang, YD
Zhang, FL
Xu, M
Zhang, JZ
Yan, JB
Ju, WN
Brown, WT
Zhong, N
AF Wang, Yu
Fang, Yudan
Zhang, Fengling
Xu, Miao
Zhang, Jingzhi
Yan, Jingbin
Ju, Weina
Brown, W. Ted
Zhong, Nanbert
TI Hypermethylation of the enolase gene (ENO2) in autism
SO EUROPEAN JOURNAL OF PEDIATRICS
LA English
DT Article
DE Autism; Neurodevelopment; Gene ENO2; Methylation; Epigenetics
ID MECP2 PROMOTER METHYLATION; REVEALS; SCHIZOPHRENIA; EXPRESSION;
BIOMARKERS; CORTEX; SERUM
AB It has been hypothesized that dysregulation of brain-expressed genes is the major predisposing underlying mechanism for autism. This dysregulation may be mediated by differential methylation of CpG sites within gene promoters, which could be candidate biomarkers and used for early clinical screening of autism. A total of 131 pairs of age- and sex-matched autistic and control subjects were recruited in this study. Peripheral blood cells were analyzed. The first five pairs were randomly applied to array-based genome-wide methylation studies. A neuron-specific gene, ENO2, was found to be hypermethylated in the autistic samples. This difference was validated by bisulfite sequencing PCR (BSP). The differential expression of ENO2 gene was further analyzed with RT-qPCR and ELISA. The hypermethylation of ENO2 within the promoter region was confirmed by BSP to be present in 14.5 % (19/131) of the total of the autistic samples. The mean ENO2 RNA level in these 19 autistic samples was reduced by about 70 % relative to that in controls. The average level of ENO2 protein expression in the 19 autistic samples (15.18 +/- 3.51 mu g/l) was about half of that in the controls (33.86 +/- 8.16 mu g/l). Conclusion: These findings suggest that reduced ENO2 expression may be a biomarker for a subset of autistic children.
C1 [Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Med Genet, Shanghai 200040, Peoples R China.
[Wang, Yu; Zhang, Fengling; Zhong, Nanbert] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Children Hlth Care, Shanghai 200040, Peoples R China.
[Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Minist Hlth, Key Lab Embryo Mol Biol, Shanghai, Peoples R China.
[Wang, Yu; Fang, Yudan; Xu, Miao; Zhang, Jingzhi; Yan, Jingbin; Zhong, Nanbert] Shanghai Lab Embryo & Reprod Engn, Shanghai, Peoples R China.
[Zhong, Nanbert] Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China.
[Ju, Weina; Brown, W. Ted; Zhong, Nanbert] New York State Inst Basic Res Dev Disabil, New York, NY USA.
RP Zhong, N (reprint author), Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Inst Children Hlth Care, 1440 Beijing West Rd, Shanghai 200040, Peoples R China.
EM wy_rain@126.com; fangyudan@hotmail.com; zhangfl3985@126.com;
xumiao@shhildren.com.cn; zhangjz@shchildren.com.cn;
yanjingbin0130@hotmail.com; weina.ju@yahoo.com; ted.brown@opwdd.ny.gov;
nanbert.zhong@opwdd.ny.gov
FU National "973" program - Chinese Ministry of Science and Technology
[2012CB517905]; Shanghai Municipal Department of Science and Technology
[2009JC1412600]; Shanghai Municipal Health Bureau [2010Y151]; New York
State Office for People with Developmental Disabilities (OPWDD)
FX We thank the autism and control children and their parents for making
this study feasible. We are extremely grateful to Professors Yitao Zeng
and Shuzhen Huang (Shanghai Institute of Medical Genetics) for helpful
discussions. This study was supported in part by the National "973"
program (2012CB517905) granted from the Chinese Ministry of Science and
Technology, and funding from the Shanghai Municipal Department of
Science and Technology (2009JC1412600), Shanghai Municipal Health Bureau
(2010Y151), and New York State Office for People with Developmental
Disabilities (OPWDD).
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NR 31
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6199
EI 1432-1076
J9 EUR J PEDIATR
JI Eur. J. Pediatr.
PD SEP
PY 2014
VL 173
IS 9
BP 1233
EP 1244
DI 10.1007/s00431-014-2311-9
PG 12
WC Pediatrics
SC Pediatrics
GA AN5ZU
UT WOS:000340673300014
PM 24737292
ER
PT J
AU Del Giudice, M
Klimczuk, ACE
Traficonte, DM
Maestripieri, D
AF Del Giudice, Marco
Klimczuk, Amanda C. E.
Traficonte, Daniel M.
Maestripieri, Dario
TI Autistic-like and schizotypal traits in a life history perspective:
diametrical associations with impulsivity, sensation seeking, and
sociosexual behavior
SO EVOLUTION AND HUMAN BEHAVIOR
LA English
DT Article
DE Autistic-like traits; Diametrical model; Impulsivity; Life history
strategy; Schizotypal traits; Sexual selection; Sociosexuality
ID SPECTRUM QUOTIENT AQ; MALE BRAIN THEORY; PHENOTYPIC PLASTICITY;
GENERAL-POPULATION; GENETIC-VARIATION; SEX-DIFFERENCES; PERSONALITY;
SCHIZOPHRENIA; DISORDER; CREATIVITY
AB According to recent theoretical models, autistic-like and schizotypal traits can be regarded as opposite sides of a single continuum of variation in personality and cognition, and may be diametrically associated with individual differences in life history strategies. In this view, schizotypy is a psychological phenotype oriented toward high mating effort and reduced parenting, consistent with a fast life history strategy, whereas autistic-like traits contribute to a slow strategy characterized by reduced mating effort and high parental investment. In this study, we tested the hypothesis that autistic-like and schizotypal traits would be diametrically associated with unrestricted sociosexuality, impulsivity, and sensation seeking (three key behavioral correlates of fast life history strategies in humans) in a sample of 152 young adults (18-38 years). The results were consistent with a diametrical autism-schizotypy axis of individual variation. In line with our hypotheses, autism-schizotypy scores were uniquely associated with individual differences in impulsivity, sensation seeking, and sociosexual behavior, even after controlling for variation in Big Five personality traits. However, we found no significant associations with sociosexual attitude in the present sample. Our findings provide additional support for a life history model of autistic-like and schizotypal traits and demonstrate the heuristic value of this approach in the study of personality and psychopathology. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Del Giudice, Marco] Univ New Mexico, Dept Psychol, Albuquerque, NM 87131 USA.
[Klimczuk, Amanda C. E.; Maestripieri, Dario] Univ Chicago, Inst Mind & Biol, Chicago, IL 60637 USA.
[Traficonte, Daniel M.] Univ Chicago, Ctr Global Hlth, Chicago, IL 60637 USA.
RP Del Giudice, M (reprint author), Univ New Mexico, Dept Psychol, Logan Hall,2001 Redondo Dr NE, Albuquerque, NM 87131 USA.
EM marcodg@unm.edu
RI Del Giudice, Marco/F-7007-2010
OI Del Giudice, Marco/0000-0001-8526-1573
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NR 77
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1090-5138
EI 1879-0607
J9 EVOL HUM BEHAV
JI Evol. Hum. Behav.
PD SEP
PY 2014
VL 35
IS 5
BP 415
EP 424
DI 10.1016/j.evolhumbehav.2014.05.007
PG 10
WC Psychology, Biological; Behavioral Sciences; Social Sciences, Biomedical
SC Psychology; Behavioral Sciences; Biomedical Social Sciences
GA AN6EG
UT WOS:000340687100009
ER
PT J
AU Buchanan, R
Beckett, RD
AF Buchanan, Rachel
Beckett, Robert D.
TI Assessment of vaccination-related information for consumers available on
Facebook (R)
SO HEALTH INFORMATION AND LIBRARIES JOURNAL
LA English
DT Article
DE consumer health information; health information needs; information
seeking behaviour; social media; social networking
ID PERTUSSIS; VACCINES; RUBELLA; AUTISM
AB Objectives: To assess the magnitude, interest, purpose and validity of vaccination-related information on Facebook and to determine whether information varies by site viewpoint.
Methods: The 10 largest vaccination-focused Facebook (R) pages, groups and places in each category were identified and classified by viewpoint (i.e. anti-, pro-, neutral) and purpose. Number of members, posts per week, likes, comments and shares per post were recorded. Posts were assessed for concordance with CDC and FDA recommendations.
Results: Of 30 sites, 43% (n = 13) were anti-vaccination, 7% (n = 2) neutral and 50% (n = 15) pro-vaccination. Most sites were most popular with American users. Median members were similar between anti-vaccination (2703 members, range 337-33 631 members) and pro-vaccination sites (2142 members, range 456-61 565 members, P = 0.262); however, anti-vaccination sites accumulated more posts per week by authors (median 15 vs. 3, P = 0.031) and members (median 33 vs. 1, P < 0.001). Pro-vaccination sites more commonly had commercial purpose (53% [n = 8] vs. 8% [n = 1], P = 0.02). Anti-vaccination sites more commonly gave medical advice (54% [n = 7] vs. 0%, P = 0.004). Overall, 48% (n = 22) of author posts were concordant with regulatory recommendations; concordance was more common on pro-vaccination sites (78% [n = 21] vs. 5% [n = 1], P = 0.0002).
Conclusion: Vaccination-related information is prevalent on Facebook regardless of viewpoint; however, anti-vaccination information generates more interest. Anti-vaccination sites were likely to provide medical advice and disagree with regulatory bodies.
C1 [Buchanan, Rachel] William S Middleton Mem Vet Adm Med Ctr, Madison, WI USA.
[Beckett, Robert D.] Univ Manchester, Coll Pharm, Ft Wayne, IN 46845 USA.
RP Beckett, RD (reprint author), Univ Manchester, Coll Pharm, 10627 Diebold Rd, Ft Wayne, IN 46845 USA.
EM rdbeckett@manchester.edu
CR [Anonymous], NEWSR KEY FACTS
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California Department of Public of Health, PERT SUMM REP
Centers for Disease Control, SOM COMM MISC VACC R
Centers for Disease Control, VACC SAF
Cohen R. A., 2009, NCHS DATA BRIEF USE
Diekema DS, 2012, NEW ENGL J MED, V366, P391, DOI 10.1056/NEJMp1113008
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National Network for Immunization Information, VACC MIS
Rochman B., TIME HLTH FAMILY
STRATTON KR, 1994, JAMA-J AM MED ASSOC, V271, P1602, DOI 10.1001/jama.271.20.1602
The College of Physicians of Philadelphia, HIST VACC
NR 15
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1471-1834
EI 1471-1842
J9 HEALTH INFO LIBR J
JI Heatlth Info. Libr. J.
PD SEP
PY 2014
VL 31
IS 3
BP 227
EP 234
DI 10.1111/hir.12073
PG 8
WC Information Science & Library Science
SC Information Science & Library Science
GA AO2KV
UT WOS:000341151500006
PM 25041499
ER
PT J
AU Micheau, J
Vimeney, A
Normand, E
Mulle, C
Riedel, G
AF Micheau, Jacques
Vimeney, Alice
Normand, Elisabeth
Mulle, Christophe
Riedel, Gernot
TI Impaired Hippocampus-Dependent Spatial Flexibility and Sociability
Represent Autism-Like Phenotypes in GluK2 Mice
SO HIPPOCAMPUS
LA English
DT Article
DE GluK2 KO mice; autism spectrum disorder; social behavior; behavioral
flexibility; spatial learning; pattern separation/completion; water maze
ID FAMILY-BASED ASSOCIATION; MOSSY FIBER SYNAPSES; GLUTAMATE-RECEPTOR-6
GENE; SPECTRUM DISORDERS; PATTERN SEPARATION; KAINATE RECEPTORS;
GLUR6-DEFICIENT MICE; GRIK2 POLYMORPHISMS; BASAL GANGLIA; MEMORY
AB Autism is a complex neurodevelopmental disorder with high heritability. grik2 (which encodes the GluK2 subunit of kainate receptors) has been identified as a susceptibility gene in Autism Spectrum Disorders (ASD), but its role in the core and associated symptoms of ASD still remains elusive. We used mice lacking GluK2 (GluK2 KO) to examine their endophenotype with a view to modeling aspects of autism, including social deficits, stereotyped and repetitive behavior and decreased cognitive abilities. Anxiety was recorded in the elevated plus maze, social behavior in a three-chamber apparatus, and cognition in different water maze protocols. Deletion of the GluK2 gene reduced locomotor activity and sociability as indicated by the social interaction task. In addition, GluK2 KO mice learnt to locate a hidden platform in a water maze surrounded by a curtain with hanging cues faster than wild-type mice. They maintained a bias toward the target quadrant when some of these cues were removed, at which point wild-types orthogonalized the behavior and showed no memory. However, GluK2 KO mice were impaired in spatial reversal learning. These behavioral data together with previously published electrophysiology showing severe anomalies in CA3 network activity, suggest a computational shift in this network for enhanced propensity of pattern completion that would explain the loss of behavioral flexibility in GluK2 KO mice. Although a single mutation cannot recapitulate the entire core symptoms of ASD, our data provide evidence for glutamatergic dysfunction underlying a number of social-and cognition-related phenotypes relevant to ASD. (C) 2014 Wiley Periodicals, Inc.
C1 [Micheau, Jacques] Univ Bordeaux, INCIA, CNRS, UMR 5287, F-33405 Talence, France.
[Vimeney, Alice; Normand, Elisabeth; Mulle, Christophe] Univ Bordeaux, Inst Interdisciplinaire Neurosci, CNRS, UMR 5297, F-33077 Bordeaux, France.
[Riedel, Gernot] Univ Aberdeen, Sch Med Sci, Aberdeen AB25 2ZD, Scotland.
RP Micheau, J (reprint author), Univ Bordeaux, INCIA, CNRS, UMR 5287, Ave Fac, F-33405 Talence, France.
EM jacques.micheau@u-bordeaux1.fr
FU Centre National de la Recherche Scientifique; Universite de Bordeaux
FX This study was supported by the Centre National de la Recherche
Scientifique and Universite de Bordeaux. We thank D. Panzeri, N. Argenta
and J. Huard for animal care.
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NR 53
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1050-9631
EI 1098-1063
J9 HIPPOCAMPUS
JI Hippocampus
PD SEP
PY 2014
VL 24
IS 9
BP 1059
EP 1069
DI 10.1002/hipo.22290
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AO3OW
UT WOS:000341243000002
PM 24753134
ER
PT J
AU Chiocchetti, AG
Bour, HS
Freitag, CM
AF Chiocchetti, Andreas G.
Bour, Hanna S.
Freitag, Christine M.
TI Glutamatergic candidate genes in autism spectrum disorder: an overview
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; Genetic studies; Glutamtergic pathway; Review
ID PERVASIVE DEVELOPMENTAL DISORDERS; DE-NOVO MUTATIONS; FAMILY-BASED
ASSOCIATION; COPY-NUMBER VARIATION; FRAGILE-X-SYNDROME;
GENOTYPE-PHENOTYPE CORRELATIONS; RUBINSTEIN-TAYBI SYNDROME; LONG-TERM
POTENTIATION; GENOME-WIDE LINKAGE; MENTAL-RETARDATION
AB Autism spectrum disorders (ASD) are neurodevelopmental disorders with early onset in childhood. Most of the risk for ASD can be explained by genetic variants that act in interaction with biological environmental risk factors. However, the architecture of the genetic components is still unclear. Genetic studies and subsequent systems biological approaches described converging functional effects of identified genes towards pathways relevant for neuronal signalling. Mouse models suggest an aberrant synaptic plasticity at the neuropathological level, which is believed to be conferred by dysregulation of long-term potentiation or depression of neuronal connections. A central pathway regulating these mechanisms is glutamatergic signalling. Here, we hypothesized that susceptibility genes for ASD are enriched for components of this pathway. To further understand the impact of ASD risk genes on the glutamatergic pathway, we performed a systematic review using the literature database "pubmed" and the "AutismKB" knowledgebase. We provide an overview of the glutamatergic system in typical brain function and development, and summarize findings from linkage, association, copy number variants, and sequencing studies in ASD to provide a comprehensive picture of the glutamatergic landscape of ASD genetics. Genetic variants associated with ASD were enriched in glutamatergic pathways, affecting receptor signalling, metabolism and transport. Furthermore, in genetically modified mouse models for ASD, pharmacological compounds acting on ionotropic or metabotropic receptor activity are able to rescue ASD reminscent phenotypes. We conclude that glutamatergic genetic risk factors for ASD show a complex pattern and further studies are needed to fully understand its mechanisms, before translation of findings into clinical applications and individualized treatment approaches will be possible.
C1 [Chiocchetti, Andreas G.; Bour, Hanna S.; Freitag, Christine M.] Goethe Univ Frankfurt, Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
RP Chiocchetti, AG (reprint author), Goethe Univ Frankfurt, Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM andreas.chiocchetti@kgu.de
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NR 197
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1081
EP 1106
DI 10.1007/s00702-014-1161-y
PG 26
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400002
PM 24493018
ER
PT J
AU Waltes, R
Gfesser, J
Haslinger, D
Schneider-Momm, K
Biscaldi, M
Voran, A
Freitag, CM
Chiocchetti, AG
AF Waltes, Regina
Gfesser, Johannes
Haslinger, Denise
Schneider-Momm, Katja
Biscaldi, Monica
Voran, Anette
Freitag, Christine M.
Chiocchetti, Andreas G.
TI Common EIF4E variants modulate risk for autism spectrum disorders in the
high-functioning range
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Association analysis; Transmission disequilibrium testing; Common
variant; High-functioning autism; Repetitive behaviour
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; GENETIC-VARIANTS; GERMAN FORM; TRANSLATION; ASSOCIATION;
RELIABILITY; BEHAVIORS; MUTATIONS
AB The genetic architecture of Autism Spectrum Disorders (ASD) is complex. Common genetic variation has especially been related to high-functioning ASD. In addition, some studies favoured analysis of strictly diagnosed autism individuals, which resulted in more robust findings than the combined analysis of all spectrum individuals. Functional variants modulating EIF4E expression have previously been indicated as risk factors for ASD. Pharmacological modulation of glutamate receptors which regulate EIF4E activity resulted in reduced repetitive behaviours in human and animal studies. Based on these findings, we tested common EIF4E variants for association with overall ASD, with strict autism and with the strict high-functioning autism (strict HFA) subgroup, and their effect on repetitive and/or stereotypic behaviour. We observed over-transmission of rs13109000G in the strict HFA and the strict autism cohort but not in the larger ASD cohort. We report protective effects for the minor allele of rs4699369T on stereotyped and ritualized behaviour in the overall ASD cohort, the strict autism but not in the strict HFA group. In addition, a protective role for rs4699369T and a risk effect of rs12498533G on hand and finger mannerisms was observed. These results need to be replicated in larger ASD and strict autism samples. The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD.
C1 [Waltes, Regina; Gfesser, Johannes; Haslinger, Denise; Freitag, Christine M.; Chiocchetti, Andreas G.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
[Schneider-Momm, Katja; Biscaldi, Monica] Univ Hosp Freiburg, Dept Child & Adolescent Psychiat, D-79104 Freiburg, Germany.
[Voran, Anette] Saarland Univ Hosp, Dept Child & Adolescent Psychiat, D-66421 Homburg, Germany.
RP Chiocchetti, AG (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
EM andreas.chiocchetti@kgu.de
FU Saarland University [T6 03 10 00-45]; European Union; Bundesministerium
fur Bildung und Forschung (ERA-NET NEURON project)
[EUHF-AUTISM-01EW1105]; Landes-Offensive zur Entwicklung
wissenschaftlich okonomischer Exzellenz (LOEWE): Neuronal Coordination
Research Focus Frankfurt (NeFF)
FX We thank all patients and their families for taking part in this study.
In addition, we thoroughly thank Silvia Lindlar and Hiacynta Jelen for
excellent technical assistance and Heiko Zerlaut and Rusico Weber for
database management. This work was supported by the Saarland University
(T6 03 10 00-45 to C. M. F.), the European Union and the
Bundesministerium fur Bildung und Forschung (ERA-NET NEURON project:
EUHF-AUTISM-01EW1105 to C. M. F.); and the Landes-Offensive zur
Entwicklung wissenschaftlich okonomischer Exzellenz (LOEWE): Neuronal
Coordination Research Focus Frankfurt (NeFF to C.M.F.).
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NR 51
TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1107
EP 1116
DI 10.1007/s00702-014-1230-2
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400003
PM 24818597
ER
PT J
AU Taurines, R
Segura, M
Schecklmann, M
Albantakis, L
Grunblatt, E
Walitza, S
Jans, T
Lyttwin, B
Haberhausen, M
Theisen, FM
Martin, B
Briegel, W
Thome, J
Schwenck, C
Romanos, M
Gerlach, M
AF Taurines, Regina
Segura, Monica
Schecklmann, Martin
Albantakis, Laura
Gruenblatt, Edna
Walitza, Susanne
Jans, Thomas
Lyttwin, Benjamin
Haberhausen, Michael
Theisen, Frank M.
Martin, Berthold
Briegel, Wolfgang
Thome, Johannes
Schwenck, Christina
Romanos, Marcel
Gerlach, Manfred
TI Altered peripheral BDNF mRNA expression and BDNF protein concentrations
in blood of children and adolescents with autism spectrum disorder
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorder (ASD); Brain-derived neurotrophic factor
(BDNF); ADHD; Neurodevelopmental disorders; Peripheral expression
ID NEUROTROPHIC FACTOR BDNF; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT-HYPERACTIVITY DISORDER; GEL-BASED MICROARRAY;
MENTAL-RETARDATION; EXECUTIVE DYSFUNCTION; DEPRESSED-PATIENTS; HUMAN
PLATELETS; WORKING-MEMORY; SERUM-LEVELS
AB Findings from molecular genetic studies and analyses of postmortem and peripheral tissue led to the hypothesis that neurotrophins-as crucial moderators of neuroplasticity-impact on the pathophysiology of autism spectrum disorder (ASD). The study projects aimed to complement former results on the role of brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family with fundamental impact on brain development and function. The purpose of this work was to investigate peripheral BDNF mRNA expression and BDNF protein concentrations in ASD as potential surrogates for the effects observed in the central nervous system. In a BDNF protein quantification study, serum concentrations were analyzed using Enzyme-Linked Immunosorbent Assays in 24 male patients with ASD, all with an IQ > 70 (age 13.9 +/- A 3.0 years) and 20 age- and gender-matched healthy control subjects (age 14.4 +/- A 2.1 years; p = 0.522). In a further independent project, a BDNF mRNA expression analysis, mRNA levels from total blood were assessed by quantitative real-time polymerase chain reaction in a sample of 16 male ASD patients (age 10.8 +/- A 2.2), 15 age- and gender-matched healthy controls (age 12.1 +/- A 2.2) and 15 patients with attention deficit hyperactivity disorder as a clinical control group (age 11.8 +/- A 2.2; p = 0.207). In the protein quantification project, significantly decreased BDNF serum concentrations were found in ASD cases compared to healthy control children (t = -2.123, df = 42, p < 0.05). Analysis of covariance (ANCOVA) revealed this result in accordance with significant reductions in BDNF mRNA expression in ASD, observed in the mRNA expression study (F = 3.65; df = 2.43; p < 0.05); neither age nor IQ confounded the result, as indicated by ANCOVA (F = 3.961; df = 2.41; p < 0.05, eta (2) = 0.162). Our study projects supported the notion that neurotrophins are involved in the pathophysiology of ASD. Further studies may eventually contribute to the identification of distinct peripheral mRNA expression and protein concentration patterns possibly supporting diagnostic and therapeutic processes.
C1 [Taurines, Regina; Albantakis, Laura; Jans, Thomas; Lyttwin, Benjamin; Martin, Berthold; Romanos, Marcel; Gerlach, Manfred] Univ Wurzburg, Dept Child & Adolescent Psychiat, D-97080 Wurzburg, Germany.
[Segura, Monica] Univ Int Catalunya, Fac Med & Hlth Sci, Barcelona, Spain.
[Schecklmann, Martin] Univ Regensburg, Dept Psychiat & Psychotherapy, D-93053 Regensburg, Germany.
[Gruenblatt, Edna; Walitza, Susanne] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Haberhausen, Michael] Univ Marburg, Dept Child & Adolescent Psychiat, Marburg, Germany.
[Theisen, Frank M.] Herz Jesu Krankenhaus, Dept Child & Adolescent Psychiat, Fulda, Germany.
[Briegel, Wolfgang] Leopoldina Hosp, Dept Child & Adolescent Psychiat, Schweinfurt, Germany.
[Thome, Johannes] Univ Rostock, Dept Psychiat & Psychotherapy, D-18055 Rostock, Germany.
[Thome, Johannes] Swansea Univ, Coll Med, Swansea, W Glam, Wales.
[Schwenck, Christina] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Frankfurt, Germany.
RP Taurines, R (reprint author), Univ Wurzburg, Dept Child & Adolescent Psychiat, Fuechsleinstr 15, D-97080 Wurzburg, Germany.
EM taurines@kjp.uni-wuerzburg.de
FU Actelion; AstraZeneca; Bristol-Meyers Squibb; Ever Neuro Pharma;
Janssen-Cilag; Lilly; Lundbeck; Medice Arzneimittel Putter; Merz
Pharmaceuticals; Novartis Pharma; Pfizer Pharma; Roche; Servier; Shire;
Swiss National Science Foundation (SNF); Deutsche
Forschungsgemeinschaft; EU FP7; HSM Hochspezialisierte Medizin of the
Kanton Zurich, Switzerland
FX J. T. has obtained financial support (e. g. lecture honoraria, grants
for research projects and scientific meetings, advisory-board
membership) from Actelion, AstraZeneca, Bristol-Meyers Squibb, Ever
Neuro Pharma, Janssen-Cilag, Lilly, Lundbeck, Medice Arzneimittel
Putter, Merz Pharmaceuticals, Novartis Pharma, Pfizer Pharma, Roche,
Servier, Shire. Some of these companies manufacture drugs used in the
treatment of ADHD and ASD. S. W. has received lecture honoraria from
Janssen Cilag, AstraZeneca and Eli Lilly in the last 5 years. Her work
was partially supported in the last 5 years by the Swiss National
Science Foundation (SNF), Deutsche Forschungsgemeinschaft, EU FP7, HSM
Hochspezialisierte Medizin of the Kanton Zurich, Switzerland. All other
authors have no competing interests.
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NR 98
TC 3
Z9 3
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1117
EP 1128
DI 10.1007/s00702-014-1162-x
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400004
PM 24500031
ER
PT J
AU Luckhardt, C
Jarczok, TA
Bender, S
AF Luckhardt, C.
Jarczok, T. A.
Bender, S.
TI Elucidating the neurophysiological underpinnings of autism spectrum
disorder: new developments
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism; Visual event-related potential; Mirror neuron; Connectivity;
Transcranial magnetic stimulation; Excitation; Inhibition
ID TRANSCRANIAL MAGNETIC STIMULATION; EVENT-RELATED POTENTIALS;
FRAGILE-X-SYNDROME; MIRROR NEURON DYSFUNCTION; VISUAL-EVOKED POTENTIALS;
HIGH-FUNCTIONING AUTISM; EEG MU-RHYTHM; FACE PERCEPTION; YOUNG-CHILDREN;
INTERSTIMULUS VARIANCE
AB The study of neurophysiological approaches together with rare and common risk factors for Autism Spectrum Disorder (ASD) allows elucidating the specific underlying neurobiology of ASD. Whereas most neurophysiologically based research in ASD to date has focussed on case-control differences based on the DSM- or ICD-based categorical ASD diagnosis, more recent studies have aimed at studying genetically and/or neurophysiologically defined homogeneous ASD subgroups for specific neuronal biomarkers. This review addresses the neurophysiological investigation of ASD by evoked and event-related potentials, by EEG/MEG connectivity measures such as coherence, and transcranial magnetic stimulation. As an example of classical neurophysiological studies in ASD, we report event-related potential studies which have illustrated which brain areas and processing stages are affected in the visual perception of socially relevant stimuli. However, a paradigm shift has taken place in recent years focussing on how these findings can be tracked down to basic neuronal functions such as deficits in cortico-cortical connectivity and the interaction between brain areas. Disconnectivity, for example, can again be related to genetically induced shifts in the excitation/inhibition balance. Genetic causes of ASD may be grouped by their effects on the brain's system level to identify ASD subgroups which respond differentially to therapeutic interventions.
C1 [Luckhardt, C.; Jarczok, T. A.; Bender, S.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-60528 Frankfurt, Germany.
RP Luckhardt, C (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Christina.Luckhardt@kgu.de
FU German Research Foundation DFG (Deutsche Forschungsgemeinschaft)
[FR2069/2-1]; LOEWE programme, Neuronal Coordination Research Focus
Frankfurt (NeFF) [B1]
FX We would like to thank Dr. Susanne Raisig for proofreading our
manuscript. This work was supported by grant FR2069/2-1 of the German
Research Foundation DFG (Deutsche Forschungsgemeinschaft) to C. M. F.,
and the LOEWE programme, Neuronal Coordination Research Focus Frankfurt
(NeFF), project B1, to S.B. and C.M.F.
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TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1129
EP 1144
DI 10.1007/s00702-014-1265-4
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400005
PM 25059455
ER
PT J
AU Ambrosino, S
Bos, DJ
van Raalten, TR
Kobussen, NA
van Belle, J
Oranje, B
Durston, S
AF Ambrosino, S.
Bos, D. J.
van Raalten, T. R.
Kobussen, N. A.
van Belle, J.
Oranje, B.
Durston, S.
TI Functional connectivity during cognitive control in children with autism
spectrum disorder: an independent component analysis
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; Functional connectivity; ICA; Cognitive control; Rigid behavior
ID INHIBITORY CONTROL; FMRI DATA; NETWORK CONNECTIVITY; REPETITIVE
BEHAVIOR; DIAGNOSTIC INTERVIEW; RESPONSE-INHIBITION; WORKING-MEMORY;
DEFAULT-MODE; MRI DATA; ACTIVATION
AB Restrictive and repetitive behavior in autism may be related to deficits in cognitive control. Here, we aimed to assess functional connectivity during a cognitive control task and compare brain network activity and connectivity in children with autism spectrum disorders (ASD) and typically developing children using a multivariate data-driven approach. 19 high-functioning boys with ASD and 19 age-matched typically developing boys were included in this study. Functional magnetic resonance imaging was performed at 3T during the performance of a cognitive control task (go/no-go paradigm). Functional networks were identified using independent component analysis. Network activity and connectivity was compared between groups and correlated with clinical measures of rigid behavior using multivariate analysis of covariance. We found no differences between the groups in task performance or in network activity. Power analysis indicated that, if this were a real difference, it would require nearly 800 subjects to show group differences in network activity using this paradigm. Neither were there correlations between network activity and rigid behavior. Our data do not provide support for the presence of deficits in cognitive control in children with ASD, or the functional networks supporting this ability.
C1 [Ambrosino, S.; Bos, D. J.; van Raalten, T. R.; Kobussen, N. A.; van Belle, J.; Oranje, B.; Durston, S.] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, NICHE Lab, Dept Psychiat, NL-3584 CX Utrecht, Netherlands.
RP Ambrosino, S (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, NICHE Lab, Dept Psychiat, HP A-01-126,Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands.
EM S.AmbrosinodiBruttopilo-3@umcutrecht.nl
FU Hersenstichting Nederland [F2009(1)-17]
FX The authors would like to thank all the participants and their families
of this study. We wish to thank Juliette Weusten for the assistance with
subject recruitment and MRI assessment. This work was financially
supported by the Hersenstichting Nederland, grant number F2009(1)-17.
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NR 63
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1145
EP 1155
DI 10.1007/s00702-014-1237-8
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400006
PM 24845879
ER
PT J
AU Ecker, C
Shahidiani, A
Feng, Y
Daly, E
Murphy, C
D'Almeida, V
Deoni, S
Williams, SC
Gillan, N
Gudbrandsen, M
Wichers, R
Andrews, D
Van Hemert, L
Murphy, DGM
AF Ecker, C.
Shahidiani, A.
Feng, Y.
Daly, E.
Murphy, C.
D'Almeida, V.
Deoni, S.
Williams, S. C.
Gillan, N.
Gudbrandsen, M.
Wichers, R.
Andrews, D.
Van Hemert, L.
Murphy, D. G. M.
TI The effect of age, diagnosis, and their interaction on vertex-based
measures of cortical thickness and surface area in autism spectrum
disorder
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism; Neuroanatomy; Cortical thickness; Surface area; Neurodevelopment
ID COORDINATE SYSTEM; BRAIN OVERGROWTH; PROGENITOR CELLS; CEREBRAL-CORTEX;
MRI; CHILDREN; ADOLESCENCE; ANATOMY; ADULTS; REPRESENTATION
AB Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that is accompanied by an atypical development of brain maturation. So far, brain development has mainly been studied during early childhood in ASD, and using measures of total or lobular brain volume. However, cortical volumetric measures are a product of two distinct biological neuroanatomical features, cortical thickness, and surface area, which most likely also have different neurodevelopmental trajectories in ASD. Here, we therefore examined age-related differences in cortical thickness and surface area in a cross-sectional sample of 77 male individuals with ASD ranging from 7 to 25 years of age, and 77 male neurotypical controls matched for age and FSIQ. Surface-based measures were analyzed using a general linear model (GLM) including linear, quadratic, and cubic age terms, as well as their interactions with the main effect of group. When controlling for the effects of age, individuals with ASD had spatially distributed reductions in cortical thickness relative to controls, particularly in fronto-temporal regions, and also showed significantly reduced surface area in the prefrontal cortex and the anterior temporal lobe. We also observed significant group x age interactions for both measures. However, while cortical thickness was best predicted by a quadratic age term, the neurodevelopmental trajectory for measures of surface area was mostly linear. Our findings suggest that ASD is accompanied by age-related and region-specific reductions in cortical thickness and surface area during childhood and early adulthood. Thus, differences in the neurodevelopmental trajectory of maturation for both measures need to be taken into account when interpreting between-group differences overall.
C1 [Ecker, C.; Shahidiani, A.; Feng, Y.; Daly, E.; Murphy, C.; D'Almeida, V.; Gillan, N.; Gudbrandsen, M.; Wichers, R.; Andrews, D.; Murphy, D. G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
[Ecker, C.; Shahidiani, A.; Feng, Y.; Daly, E.; Murphy, C.; D'Almeida, V.; Gillan, N.; Gudbrandsen, M.; Wichers, R.; Andrews, D.; Murphy, D. G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev Sci, London SE5 8AF, England.
[Deoni, S.] Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
[Williams, S. C.; Van Hemert, L.] Kings Coll London, Inst Psychiat, Ctr Neuroimaging Sci, London SE5 8AF, England.
RP Ecker, C (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
EM christine.ecker@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Medical Research Council UK [G0400061, G0800298]; Dr. Mortimer and
Theresa Sackler Foundation; EU-AIMS project (European Autism
Interventions-a Multicentre Study for developing New Medications) from
the Innovative Medicines Initiative Joint Undertaking [115300]; EU; NIHR
Biomedical Research Centre for Mental Health at King's College London,
Institute of Psychiatry; South London & Maudsley NHS Foundation Trust
FX This work was supported (1) by the Medical Research Council UK (G0400061
and G0800298), (2) by the Dr. Mortimer and Theresa Sackler Foundation,
(3) by the EU-AIMS project (European Autism Interventions-a Multicentre
Study for developing New Medications) receiving support from the
Innovative Medicines Initiative Joint Undertaking under grant agreement
no. 115300, which includes financial contributions from the EU Seventh
Framework Programme (FP7/2007-2013), (4) by the NIHR Biomedical Research
Centre for Mental Health at King's College London, Institute of
Psychiatry, and (5) by the South London & Maudsley NHS Foundation Trust.
We are also grateful to those who agreed to be scanned and who gave
their time so generously to this study.
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NR 57
TC 2
Z9 2
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1157
EP 1170
DI 10.1007/s00702-014-1207-1
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400007
PM 24752753
ER
PT J
AU Greimel, E
Schulte-Ruther, M
Kamp-Becker, I
Remschmidt, H
Herpertz-Dahlmann, B
Konrad, K
AF Greimel, Ellen
Schulte-Ruether, Martin
Kamp-Becker, Inge
Remschmidt, Helmut
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Impairment in face processing in autism spectrum disorder: a
developmental perspective
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorder; Development; Age; Face recognition; Emotion
ID HIGH-FUNCTIONING ADULTS; FACIAL EXPRESSION; EMOTION RECOGNITION;
ASPERGER-SYNDROME; BRAIN ACTIVATION; CHILDREN; PERCEPTION; AMYGDALA;
INFORMATION; CHILDHOOD
AB Findings on face identity and facial emotion recognition in autism spectrum disorder (ASD) are inconclusive. Moreover, little is known about the developmental trajectory of face processing skills in ASD. Taking a developmental perspective, the aim of this study was to extend previous findings on face processing skills in a sample of adolescents and adults with ASD. N = 38 adolescents and adults (13-49 years) with high-functioning ASD and n = 37 typically developing (TD) control subjects matched for age and IQ participated in the study. Moreover, n = 18 TD children between the ages of 8 and 12 were included to address the question whether face processing skills in ASD follow a delayed developmental pattern. Face processing skills were assessed using computerized tasks of face identity recognition (FR) and identification of facial emotions (IFE). ASD subjects showed impaired performance on several parameters of the FR and IFE task compared to TD control adolescents and adults. Whereas TD adolescents and adults outperformed TD children in both tasks, performance in ASD adolescents and adults was similar to the group of TD children. Within the groups of ASD and control adolescents and adults, no age-related changes in performance were found. Our findings corroborate and extend previous studies showing that ASD is characterised by broad impairments in the ability to process faces. These impairments seem to reflect a developmentally delayed pattern that remains stable throughout adolescence and adulthood.
C1 [Greimel, Ellen; Schulte-Ruether, Martin; Konrad, Kerstin] Rhein Westfal TH Aachen, Univ Hosp, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, D-52062 Aachen, Germany.
[Greimel, Ellen; Herpertz-Dahlmann, Beate] Rhein Westfal TH Aachen, Univ Hosp, Dept Child & Adolescent Psychiat, D-52062 Aachen, Germany.
[Greimel, Ellen] Univ Hosp Munich, Dept Child & Adolescent Psychiat, D-80336 Munich, Germany.
[Kamp-Becker, Inge; Remschmidt, Helmut] Univ Hosp Giessen & Marburg, Dept Child & Adolescent Psychiat, Giessen, Germany.
RP Greimel, E (reprint author), Univ Hosp Munich, Dept Child & Adolescent Psychiat, Pettenkoferstr 8a, D-80336 Munich, Germany.
EM Ellen.Greimel@med.uni-muenchen.de
RI Konrad, Kerstin/H-7747-2013
OI Konrad, Kerstin/0000-0001-9039-2615
FU Vifor Pharma; Novartis; Medice
FX B. H.-D. receives industry research funding from Vifor Pharma. K. K.
received speaking fees from Novartis and Medice. All other authors
declare that they have no conflicts of interest.
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NR 74
TC 0
Z9 0
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1171
EP 1181
DI 10.1007/s00702-014-1206-2
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400008
PM 24737035
ER
PT J
AU de Vries, M
Geurts, HM
AF de Vries, Marieke
Geurts, Hilde M.
TI Beyond individual differences: are working memory and inhibition
informative specifiers within ASD?
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE ASD; WM; Inhibition; Individual differences
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
N-BACK TASK; DISRUPTIVE BEHAVIOR DISORDERS; LATENT-VARIABLE ANALYSIS;
DIAGNOSTIC OBSERVATION SCHEDULE; DEFICIT HYPERACTIVITY DISORDER;
EXECUTIVE FUNCTION DEFICITS; RESPONSE-INHIBITION; PSYCHIATRIC-DISORDERS
AB Findings on working memory (WM) and inhibition in children with autism spectrum disorders (ASD) are contradictory and earlier studies largely ignored individual differences. As WM and inhibition seem to be related, children who experience WM deficits might also experience inhibition deficits. Moreover, these children possibly form a distinct subgroup, differing on other variables, such as cognitive functioning, symptom severity, behavior, and attention deficit hyperactivity disorder (ADHD) characteristics. We studied a large sample of children with and without ASD (8-12 years, IQ > 80) with classic experimental tasks (n-back task, ASD n = 77, control n = 45; stop task, ASD n = 74, control n = 43), and explored individual differences. The ASD group made more errors on the n-back task with increasing WM load, and had longer stop signal reaction times on the stop task when compared with controls. However, only 6 % of the ASD group showed both WM and inhibition deficits, and 71 % showed no deficits. Parents of children with WM and/or inhibition deficits tended to report more conduct problems on the disruptive behavior disorder rating scale. ADHD characteristics did not influence performance. Some children used medication during testing, which seemingly influenced stop task performance, but excluding these data did not change the main findings. Large individual differences in cognitive functioning are present, even within children with ASD with average or above average intelligence. However, whether individual differences in specific cognitive domains, such as WM and inhibition are as informative as individual differences in diagnosis, comorbidity, and general cognitive functioning, calls for future research.
C1 [de Vries, Marieke; Geurts, Hilde M.] Univ Amsterdam, Dept Psychol, Amsterdam, Netherlands.
[Geurts, Hilde M.] Autism Outpatient Clin, Amsterdam, Netherlands.
[Geurts, Hilde M.] Cognit Sci Ctr Amsterdam, Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Univ Amsterdam, Dept Psychol, Amsterdam, Netherlands.
EM m.devries@uva.nl; h.m.geurts@uva.nl
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NR 113
TC 1
Z9 1
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1183
EP 1198
DI 10.1007/s00702-014-1225-z
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400009
PM 24796318
ER
PT J
AU Pankert, A
Pankert, K
Herpertz-Dahlmann, B
Konrad, K
Kohls, G
AF Pankert, Azarakhsh
Pankert, Kilian
Herpertz-Dahlmann, Beate
Konrad, Kerstin
Kohls, Gregor
TI Responsivity to familiar versus unfamiliar social reward in children
with autism
SO JOURNAL OF NEURAL TRANSMISSION
LA English
DT Article
DE Autism spectrum disorders; Social reward; Nonsocial reward; Familiarity;
Cognitive control
ID FUSIFORM FACE AREA; SPECTRUM DISORDERS; BRAIN PLASTICITY; MONETARY
REWARD; JOINT ATTENTION; ROMANTIC LOVE; MOTIVATION; INTERVENTION;
DYSFUNCTION; IMPAIRMENT
AB In autism spectrum disorders (ASD), social motivation theories suggest that the core social communication problems seen in children with ASD arise from diminished responsiveness to social reward. Although clinical and experimental data support these theories, the extent to which the reward deficit in ASD is unique for social rewards remains unclear. With the present investigation, we aimed to provide insight into the degree to which sociality as well as familiarity of reward incentives impact motivated goal-directed behavior in children with ASD. To do so, we directly compared the influence of familiar versus unfamiliar social reward relative to nonsocial, monetary reward in children with ASD relative to age- and IQ-matched typically developing controls (TDC) using a visual and auditory incentive go/nogo task with reward contingencies for successful response inhibitions. We found that children with ASD responded stronger to visual familiar and unfamiliar social reward as well as to nonsocial, monetary reward than TDC. While the present data are at odds with predictions made by social motivation theories, individual variations beyond clinical diagnosis, such as reward exposure across various social settings, help explain the pattern of results. The findings of this study stress the necessity for additional research on intra-individual as well as environmental factors that contribute to social reward responsiveness in individuals with ASD versus other neuropsychiatric disorders such as ADHD or conduct disorder.
C1 [Pankert, Azarakhsh; Pankert, Kilian; Konrad, Kerstin; Kohls, Gregor] Rhein Westfal TH Aachen, Child Neuropsychol Sect, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
[Herpertz-Dahlmann, Beate] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
RP Kohls, G (reprint author), Rhein Westfal TH Aachen, Child Neuropsychol Sect, Dept Child & Adolescent Psychiat, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM gkohls@ukaachen.de
RI Konrad, Kerstin/H-7747-2013
OI Konrad, Kerstin/0000-0001-9039-2615
FU German Research Foundation (Deutsche Forschungsgemeinschaft/DFG) [IRTG
1328]
FX We would like to thank all young volunteers and their families who
participated in this study. We also thank Astrid Putz-Ebert for her help
with data collection. This study was supported by the German Research
Foundation (Deutsche Forschungsgemeinschaft/DFG, IRTG 1328). We are also
very grateful to two anonymous reviewers for their helpful comments on
earlier versions of the manuscript.
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NR 82
TC 3
Z9 3
PU SPRINGER WIEN
PI WIEN
PA SACHSENPLATZ 4-6, PO BOX 89, A-1201 WIEN, AUSTRIA
SN 0300-9564
EI 1435-1463
J9 J NEURAL TRANSM
JI J. Neural Transm.
PD SEP
PY 2014
VL 121
IS 9
SI SI
BP 1199
EP 1210
DI 10.1007/s00702-014-1210-6
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO1TB
UT WOS:000341096400010
PM 24728874
ER
PT J
AU Veness, C
Prior, M
Eadie, P
Bavin, E
Reilly, S
AF Veness, Carly
Prior, Margot
Eadie, Patricia
Bavin, Edith
Reilly, Sheena
TI Predicting autism diagnosis by 7 years of age using parent report of
infant social communication skills
SO JOURNAL OF PAEDIATRICS AND CHILD HEALTH
LA English
DT Article
DE autism; infant; longitudinal study; non-verbal communication; social
interaction
ID SPECTRUM DISORDERS; EARLY INDICATORS; HOME VIDEOTAPES; 2ND YEAR;
CHILDREN; LANGUAGE; LIFE
AB Aim: The aim of this study is to identify social communication skills in infancy which predict autism spectrum disorder (ASD) diagnosis by 7 years as compared with children with other developmental difficulties or typical development from within a population sample.
Methods: Children with an ASD (n = 41), developmental delay (n = 28), language impairment (n = 47) and typical development (n = 41) were drawn from a large, longitudinal community sample following children from 8 months to 7 years of age, the Early Language in Victoria Study. At 7 years of age, early social communication skills at 8, 12 and 24 months from the Communication and Symbolic Behavior Scales Infant-Toddler Checklist and the MacArthur-Bates Communicative Development Inventory: Words and Gestures were compared between groups and used to predict ASD diagnosis.
Results: Significant predictors of ASD diagnosis were found from 8 months, predominantly focused on gesture use and communicative behaviours, such as requesting and joint attention. While comparisons between children with ASD and children with language impairment and typical development revealed differences from 8 months of age, the developmental delay group did not differ significantly from ASD on any measure until 24 months of age. At 24 months, children with ASD had lower Communication and Symbolic Behavior Scales Use of Communication scores as compared with all other groups.
Conclusions: The capacity to identify early markers of ASD should facilitate awareness of the risk of an ASD as compared with other developmental problems and point to the need for further developmental assessment, monitoring and provision of early intervention if indicated.
C1 [Veness, Carly; Eadie, Patricia; Reilly, Sheena] Royal Childrens Hosp, Murdoch Childrens Res Inst, Hearing Language & Literacy Grp, Melbourne, Vic, Australia.
[Prior, Margot] Univ Melbourne, Melbourne, Vic, Australia.
[Eadie, Patricia] Univ Melbourne, Dept Audiol & Speech Pathol, Melbourne, Vic, Australia.
[Reilly, Sheena] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Bavin, Edith] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic, Australia.
RP Reilly, S (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, Flemington Rd, Parkville, Vic 3052, Australia.
EM sheena.reilly@mcri.edu.au
FU National Health and Medical Research Council (NHMRC) [1041947, 607407,
1023493]; Victorian Government Operational Infrastructure Support
Program; NHMRC [1041892]; Nadia Verrall Memorial Research Grant from
Speech Pathology Australia; Syd and Ann Wellard Memorial Trust
FX ELVS was supported by the National Health and Medical Research Council
(NHMRC) Project Grants (#1041947, #607407 and #1023493) and the
Victorian Government Operational Infrastructure Support Program. SR was
supported by the NHMRC practitioner fellowship (#1041892). The ELVS
Autism study was supported by the Nadia Verrall Memorial Research Grant
from Speech Pathology Australia and the Syd and Ann Wellard Memorial
Trust as administered by Equity Trustees Limited. The authors would like
to acknowledge and thank all participating families and the ELVS
research assistants.
CR Allen CW, 2007, J AUTISM DEV DISORD, V37, P1272, DOI 10.1007/s10803-006-0279-7
American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
Australian Bureau of Statistics, 2001, SOC EC IND AR
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NR 24
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1034-4810
EI 1440-1754
J9 J PAEDIATR CHILD H
JI J. Paediatr. Child Health
PD SEP
PY 2014
VL 50
IS 9
BP 693
EP 700
DI 10.1111/jpc.12614
PG 8
WC Pediatrics
SC Pediatrics
GA AO2HV
UT WOS:000341141200007
PM 24909517
ER
PT J
AU McLean, RL
Harrison, AJ
Zimak, E
Joseph, RM
Morrow, EM
AF McLean, Rebecca L.
Harrison, Ashley Johnson
Zimak, Eric
Joseph, Robert M.
Morrow, Eric M.
TI Executive Function in Probands With Autism With Average IQ and Their
Unaffected First-Degree Relatives
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; executive functioning; adaptive functioning;
IQ; pedigree
ID TRAUMATIC BRAIN-INJURY; SPECTRUM DISORDERS; COGNITIVE PHENOTYPE;
CHILDREN; INDIVIDUALS; PARENTS; IMPAIRMENTS; DYSFUNCTION; CHILDHOOD;
PROFILES
AB Objective: This study aimed to characterize executive function (EF) in pedigrees of children with autism spectrum disorder (ASD) and average IQ. The authors examined the hypothesis that deficits in EF relate to lower levels of adaptive functioning, and they assessed evidence for a cognitive extended phenotype in unaffected relatives in a large, well-characterized sample. Method: Proband EF was assessed by parent-report questionnaires (Behavior Rating Inventory of Executive Functioning [BRIEF], n = 109) and child neuropsychological tests (Delis-Kaplan Executive Functioning System [D-KEFS], n = 35). EF also was examined in parents (D-KEFS, n = 335) and unaffected siblings (BRIEF, n = 114; D-KEFS, n = 57). Adaptive functioning was assessed by the Vineland Adaptive Behavior Scales-II (n = 155). All data were obtained from the Autism Consortium Clinical Genetics Database. Results: Individuals with ASD showed important EF weaknesses. Multiple regression analyses showed that parent-reported EF deficits were related to profound decreases in adaptive functioning even after controlling for age, IQ and severity of ASD symptoms. Parent-reported EF also was related to adaptive skills in preschoolers. First-degree unaffected relatives did not demonstrate difficulties with EF compared with normative data. Conclusion: In this study, EF impairments do not appear to relate to broad familial risk factors for ASD but may be associated with factors relevant to the expression of ASD in probands. Results support the benefits of EF assessment as a way to identify potential therapeutic targets that could lead to improved adaptive behavior in children with ASD and average IQ.
C1 [McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Sch Med, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, Providence, RI 02912 USA.
[McLean, Rebecca L.] Mem Hosp Rhode Isl, Neurodev Ctr, Pawtucket, RI USA.
[Harrison, Ashley Johnson; Zimak, Eric] Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Harrison, Ashley Johnson; Zimak, Eric] Brown Univ, Med Sch, Providence, RI 02912 USA.
[Joseph, Robert M.] Boston Univ, Sch Med, Boston, MA 02215 USA.
[Joseph, Robert M.; Morrow, Eric M.] Autism Consortium, Boston, MA USA.
[Morrow, Eric M.] Brown Univ, Brown Inst Brain Sci, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
RI Joseph, Roy/D-8530-2015
FU Dr. Morrow's Career Award in Medical Science from the Burroughs Wellcome
Fund; National Institutes of Health (NIH) / National Institute of
General Medical Sciences (NIGMS) [P20GM103645 01A1]; Autism Consortium;
NIMH [1R01MH085143, 1R01MH083565]
FX This research was supported by Dr. Morrow's Career Award in Medical
Science from the Burroughs Wellcome Fund and the National Institutes of
Health (NIH) / National Institute of General Medical Sciences (NIGMS)
grant P20GM103645 01A1 : Project Award under Neuroscience COBRE Project.
The collection of data and biomaterials comes from the Phenotypic and
Genetic Factors in Autism Spectrum Disorders Study. Since 2008, this
project has been supported by the Autism Consortium and by NIMH grants
(1R01MH085143, principal investigator, Louis M. Kunkel, PhD;
1R01MH083565, principal investigator, Christopher Walsh, MD, PhD)
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Wechsler D, 1999, WECHSLER ABBREVIATED
Wecshler D, 2002, WECHSLER PRESCHOOL P
Wilde EA, 2012, INT J DEV NEUROSCI, V30, P267, DOI 10.1016/j.ijdevneu.2012.01.003
Wong D, 2006, GENES BRAIN BEHAV, V5, P561, DOI 10.1111/j.1601-183X.2005.00199.x
NR 46
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD SEP
PY 2014
VL 53
IS 9
BP 1001
EP 1009
DI 10.1016/j.jaac.2014.05.019
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AO3HW
UT WOS:000341221300010
PM 25151423
ER
PT J
AU Crider, A
Pandya, CD
Peter, D
Ahmed, AO
Pillai, A
AF Crider, Amanda
Pandya, Chirayu D.
Peter, Diya
Ahmed, Anthony O.
Pillai, Anilkumar
TI Ubiquitin-proteasome dependent degradation of GABA(A)alpha 1 in autism
spectrum disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; GABA(A) receptor; Ubiquitination; SYVN1; Neurons
ID ENDOPLASMIC-RETICULUM; RECEPTORS; SYSTEM; PHOSPHORYLATION; EXPRESSION;
RETENTION; EPILEPSY; MUTATION; PATHWAY; CORTEX
AB Background: Although the neurobiological basis of autism spectrum disorder (ASD) is not fully understood, recent studies have indicated the potential role of GABA(A) receptors in the pathophysiology of ASD. GABA(A) receptors play a crucial role in various neurodevelopmental processes and adult neuroplasticity. However, the mechanism(s) of regulation of GABA(A) receptors in ASD remains poorly understood.
Methods: Postmortem middle frontal gyrus tissues (13 ASD and 13 control subjects) were used. In vitro studies were performed in primary cortical neurons at days in vitro (DIV) 14. The protein levels were examined by western blotting. Immunofluorescence studies were employed for cellular localization. The gene expression was determined by RT-PCR array and qRT-PCR.
Results: A significant decrease in GABA(A)alpha 1 protein, but not mRNA levels was found in the middle frontal gyrus of ASD subjects indicating a post-translational regulation of GABA(A) receptors in ASD. At the cellular level, treatment with proteasomal inhibitor, MG132, or lactacystin significantly increased GABA(A)alpha 1 protein levels and Lys48-linked polyubiquitination of GABA(A)alpha 1, but reduced proteasome activity in mouse primary cortical neurons (DIV 14 from E16 embryos). Moreover, treatment with betulinic acid, a proteasome activator significantly decreased GABA(A alpha)1 protein levels in cortical neurons indicating the role of polyubiquitination of GABA(A)alpha 1 proteins with their subsequent proteasomal degradation in cortical neurons. Ubiquitination specific RT-PCR array followed by western blot analysis revealed a significant increase in SYVN1, an endoplasmic reticulum (ER)-associated degradation (ERAD) E3 ubiquitin ligase in the middle frontal gyrus of ASD subjects. In addition, the inhibition of proteasomal activity by MG132 increased the expression of GABA(A)alpha 1 in the ER. The siRNA knockdown of SYVN1 significantly increased GABA(A)alpha 1 protein levels in cortical neurons. Moreover, reduced association between SYVN1 and GABA(A)alpha 1 was found in the middle frontal gyrus of ASD subjects.
Conclusions: SYVN1 plays a critical role as an E3 ligase in the ubiquitin proteasome system (UPS)-mediated GABA(A)a1 degradation. Thus, inhibition of the ubiquitin-proteasome-mediated GABA(A)alpha 1 degradation may be an important mechanism for preventing GABA(A)alpha 1 turnover to maintain GABA(A)alpha 1 levels and GABA signaling in ASD.
C1 [Crider, Amanda; Pandya, Chirayu D.; Peter, Diya; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30912 USA.
[Ahmed, Anthony O.] Will Cornell Med Coll, Dept Psychiat, White Plains, NY 10605 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30912 USA.
EM apillai@gru.edu
FU NIH [HHSN275200900011C, NO1-HD-9-0011]
FX Human postmortem samples were obtained from the NICHD Brain and Tissue
Bank for Developmental Disorders at the University of Maryland,
Baltimore, MD, USA. The Bank is funded by NIH Contract No.
#HHSN275200900011C, Ref. No. NO1-HD-9-0011.
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NR 29
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 1
PY 2014
VL 5
AR 45
DI 10.1186/2040-2392-5-45
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NC
UT WOS:000341159500001
PM 25392730
ER
PT J
AU Dickerson, AS
Pearson, DA
Loveland, KA
Rahbar, MH
Filipek, PA
AF Dickerson, Aisha S.
Pearson, Deborah A.
Loveland, Katherine A.
Rahbar, Mohammad H.
Filipek, Pauline A.
TI Role of parental occupation in autism spectrum disorder diagnosis and
severity
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Diagnosis; Severity; Risk; Occupation; Parents
ID INTERGENERATIONAL TRANSMISSION; GENERAL-POPULATION; JAMAICAN CHILDREN;
PHENOTYPE; EXPOSURE; LEAD; MATHEMATICIANS; ADOLESCENTS; SIBLINGS;
MERCURY
AB Some have suggested that parents of children with autism spectrum disorder (ASD) may present with less recognizable autistic-like phenotypic characteristics, leading them to highly systemizing occupations. Using secondary analysis of data from two previous studies of children with ASD, we tested associations between parental occupations and ASD diagnosis and the association of parental occupational characteristics on ASD severity. We found that fathers in healthcare (P < 0.01) and finance (P = 0.03) were more likely to have children with ASD. Additionally, joint effects of parental technical occupations were associated with communication (P < 0.01) and social impairment (P = 0.04). These results support that a "broader phenotype" and possible assortative mating in adults with autistic-like characteristics might contribute to intergenerational transmission and having offspring with greater ASD severity. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dickerson, Aisha S.; Rahbar, Mohammad H.] Univ Texas Houston, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX USA.
[Dickerson, Aisha S.; Rahbar, Mohammad H.] Univ Texas Houston, Hlth Sci Ctr, Ctr Clin & Translat Sci, Biostat Epidemiol Res Design Core, Houston, TX 77030 USA.
[Pearson, Deborah A.; Loveland, Katherine A.] Univ Texas Houston, Sch Med, Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Filipek, Pauline A.] Univ Texas Houston, Hlth Sci Ctr, Childrens Learning Inst, Dept Pediat, Houston, TX 77030 USA.
[Filipek, Pauline A.] Univ Texas Houston, Hlth Sci Ctr, Div Child & Adolescent Neurol, Houston, TX 77030 USA.
RP Dickerson, AS (reprint author), Univ Texas Houston, Hlth Sci Ctr, Ctr Clin & Translat Sci, Biostat Epidemiol Res Design Core, UT Profess Bldg Suite 1100-05, Houston, TX 77030 USA.
EM Aisha.S.Dickerson@uth.tmc.edu; Deborah.A.Pearson@uth.tmc.edu;
Katherine.A.Loveland@uth.tmc.edu; Mohammad.H.Rahbar@uth.tmc.edu;
Pauline.A.Filipek@uth.tmc.edu
CR Adams JB, 2013, BIOL TRACE ELEM RES, V151, P171, DOI 10.1007/s12011-012-9551-1
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Autism and Developmental Disabilities Monitoring Network (ADDM) Surveillance Year 2010 Principal Investigators, 2014, CTR DIS CONTROL PREV, V63, P1
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Sasson NJ, 2013, J NEURODEV DISORD, V5, DOI 10.1186/1866-1955-5-11
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Tang DL, 2008, ENVIRON HEALTH PERSP, V116, P674, DOI 10.1289/ehp.10471
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Young R., 2003, FLINDERS OBSERVATION
NR 67
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 997
EP 1007
DI 10.1016/j.rasd.2014.05.007
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600001
ER
PT J
AU Gargaro, BA
May, T
Tonge, BJ
Sheppard, DM
Bradshaw, JL
Rinehart, NJ
AF Gargaro, B. A.
May, T.
Tonge, B. J.
Sheppard, D. M.
Bradshaw, J. L.
Rinehart, N. J.
TI Using the DBC-P Hyperactivity Index to screen for ADHD in young people
with autism and ADHD: A pilot study
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ADHD; Autism spectrum disorder; Comorbidity; DBC; Hyperactivity
ID PERVASIVE DEVELOPMENTAL DISORDERS; BEHAVIOR CHECKLIST;
PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; CHILDREN; POPULATION;
ADOLESCENTS; INSTRUMENT; SYMPTOMS; SAMPLE
AB This study aimed to (1) determine preliminary validity of the Developmental Behaviour Checklist-Hyperactivity Index (DBC-HI) as a screening measure of combined-type ADHD in autism and ADHD, and (2) compare emotional-behavioural disturbance using the DBC in autism, ADHD and autism + ADHD. Forty-nine age- and PIQ-matched young people [6-18 years; 12 autism, 13 ADHD, 12 autism + ADHD, 12 typically developing] were recruited. Parents completed the Conners-Revised Rating Scale and DBC. The DBC-HI displayed strong internal consistency and good external validity, reliably measuring combined-type ADHD. The DBC-HI distinguished autism from autism + ADHD with fair sensitivity and specificity. Individuals with autism + ADHD exhibited a more severe profile of emotional-behavioural disturbance than autism or ADHD alone. The DBC may be a useful 'all-in-one' screening tool to (1) identify comorbidity and (2) determine the severity of emotional-behavioural disturbance in autism and/or ADHD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gargaro, B. A.; Tonge, B. J.; Bradshaw, J. L.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[May, T.; Rinehart, N. J.] Deakin Univ, Burwood, Vic 3125, Australia.
[Sheppard, D. M.] Monash Univ, Monash Univ Accid Res Ctr, Monash Injury Res Inst, Clayton, Vic 3800, Australia.
RP May, T (reprint author), Deakin Univ, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM Tamara.May@deakin.edu.au
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Baird G, 2000, J AM ACAD CHILD PSY, V39, P694, DOI 10.1097/00004583-200006000-00007
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Conners C. K., 1997, CONNERS RATING SCALE
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1008
EP 1015
DI 10.1016/j.rasd.2014.05.004
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600002
ER
PT J
AU Brady, DI
Saklofske, DH
Schwean, VL
Montgomery, JM
McCrimmon, AW
Thorne, KJ
AF Brady, Danielle I.
Saklofske, Donald H.
Schwean, Vicki L.
Montgomery, Janine M.
McCrimmon, Adam W.
Thorne, Keoma J.
TI Cognitive and emotional intelligence in young adults with Autism
Spectrum Disorder without an accompanying intellectual or language
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Asperger's syndrome; Autism Spectrum Disorder; Cognitive intelligence;
Emotional intelligence; Neuropsychology and young adults
ID ASPERGERS SYNDROME; SOCIAL INTELLIGENCE; INDIVIDUALS; HEALTH
AB Research in the neurosciences has identified distinctions between neural structures that subserve cognitive intelligence (CI) and those subserving emotional intelligence (EI). This study explored the performance of young adults with Autism Spectrum Disorder (ASD) without an accompanying intellectual or language disorder relative to typically-developing peers, on indices of CI and EI. Both the ASD and age- and sex-matched typically-developing groups exhibited high average cognitive intellectual abilities. In contrast, the ASD group reported lower levels of EI relative to their typically-developing peers, as expected given the social and emotional challenges faced by individuals with ASD. Importantly, cognitive intelligence did not correlate with EI in either group. Taken together, these findings further support the theory of dissociable neural systems underlying CI and EI. These findings also highlight the need to address not only the intellectual aspects of cognition, but also the emotional components to increase understanding of, and improve treatment for individuals on the autism spectrum. This understanding would enhance our ability to assess and support young adults with ASD, and ultimately ease their transition into adulthood. Crown Copyright (C) 2014 Published by Elsevier Ltd. All rights reserved.
C1 [Brady, Danielle I.; McCrimmon, Adam W.; Thorne, Keoma J.] Univ Calgary, Div Appl Psychol, Calgary, AB T2N 1N4, Canada.
[Saklofske, Donald H.] Univ Western Ontario, Social Sci Ctr, Dept Psychol, London, ON N6A 5C2, Canada.
[Schwean, Vicki L.] Univ Western Ontario, Fac Educ, London, ON N6G 1G7, Canada.
[Montgomery, Janine M.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Brady, DI (reprint author), POB 21055,110 Columbia Blvd West, Lethbridge, AB T1K 6X4, Canada.
EM dbrady@ucalgary.ca
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Austin E. J., 2005, INT HDB EMOTIONAL IN
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NR 48
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1016
EP 1023
DI 10.1016/j.rasd.2014.05.009
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600003
ER
PT J
AU Adams, HL
Matson, JL
Jang, J
AF Adams, Hilary L.
Matson, Johnny L.
Jang, Jina
TI The relationship between sleep problems and challenging behavior among
children and adolescents with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Sleep problems; Challenging behavior
ID PERVASIVE DEVELOPMENTAL DISORDER; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; ASPERGERS SYNDROME; PDD-NOS; ADULTS; SYMPTOMS;
INFANTS; ASD; RISPERIDONE
AB Prior research has indicated fairly consistently that sleep problems appear to worsen ASD core symptomatology. As such, the present study was conducted to examine whether or not sleep problems also exacerbate behavior problems commonly exhibited by children and adolescents with ASD in terms of total, internalizing, and externalizing challenging behavior. Results indicated that presence of sleep problems increased the ratings of challenging behavior across types, as hypothesized. Unexpectedly, degree of sleep problem (i.e., mild versus severe) only affected total and externalizing challenging behavior, whereas ratings of internalizing challenging behavior were not significantly different between mild and severe sleep problem groups. Clinical applications of findings, as well as future directions for additional research on the topic of sleep among individuals with ASD, are discussed. Published by Elsevier Ltd.
C1 [Adams, Hilary L.; Matson, Johnny L.; Jang, Jina] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Adams, HL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM hilary.l.adams@gmail.com
CR Adams HL, 2014, RES AUTISM SPECT DIS, V8, P193, DOI 10.1016/j.rasd.2013.11.008
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NR 72
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1024
EP 1030
DI 10.1016/j.rasd.2014.05.008
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600004
ER
PT J
AU Rivard, M
Terroux, A
Mercier, C
AF Rivard, Melina
Terroux, Amelie
Mercier, Celine
TI Effectiveness of early behavioral intervention in public and mainstream
settings: The case of preschool-age children with autism spectrum
disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Children with autism spectrum disorders; Early behavioral intervention;
Intensity; Mainstream day care; Parental coaching; Effectiveness
ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE EARLY INTERVENTION;
YOUNG-CHILDREN; PSYCHOSOCIAL INTERVENTIONS; CHALLENGING BEHAVIOR;
MENTAL-RETARDATION; SOCIAL COMPETENCE; PEOPLE; PROGRAM; METAANALYSIS
AB Despite the demonstrated positive outcomes of early intensive behavioral intervention (EIBI) among children with autism spectrum disorders (ASD), several challenges to its implementation on a large scale and in community settings remain. In order to maximize the accessibility and cost-effectiveness of its services, a regional public agency serving children with ASD implemented two consecutive programs: a 1 year pre-program for parents (intensive sessions followed by 1 hour per week of individual coaching) and an early behavioral intervention (EBI) program with less than optimal weekly intensity (16-20 hours) delivered in mainstream day care settings. The outcomes of these programs were assessed among 93 children. Their IQ adaptive behavior, and socioaffective competencies were found to have improved after 12 months in the EBI program. Their autism symptoms had also decreased marginally. Although the pre-program did not have observable effects on children's outcomes, their parents reported positive impact on their well-being and family life. These results demonstrate the feasibility and sustainability of offering EBI to large, unselected populations. However, the pre-program may need to be offered more intensively in order to yield positive outcomes for children. Delivering EBI services in mainstream settings may foster the development of skills linked to social integration. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rivard, Melina] Univ Quebec Montreal, Dept Psychol, Montreal, PQ H3C 3P8, Canada.
[Terroux, Amelie] Ctr Readaptat Deficience Intellectuelle & Trouble, St Hubert, PQ, Canada.
[Mercier, Celine] Univ Montreal, Dept Social & Prevent Med, Montreal, PQ, Canada.
RP Rivard, M (reprint author), Univ Quebec Montreal, Dept Psychol, POB 8888,Succursale Ctr Ville, Montreal, PQ H3C 3P8, Canada.
EM rivard.melina@uqam.ca
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NR 80
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1031
EP 1043
DI 10.1016/j.rasd.2014.05.010
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600005
ER
PT J
AU Fisher, WW
Luczynski, KC
Hood, SA
Lesser, AD
Machado, MA
Piazza, CC
AF Fisher, Wayne W.
Luczynski, Kevin C.
Hood, Stephanie A.
Lesser, Aaron D.
Machado, Mychal A.
Piazza, Cathleen C.
TI Preliminary findings of a randomized clinical trial of a virtual
training program for applied behavior analysis technicians
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Applied behavior analysis; Autism; Behavioral skills training; Early
intensive behavioral interventions; Telehealth; Virtual care
ID AUTISM SPECTRUM DISORDERS; YOUNG-CHILDREN; INTERVENTIONS; TELEHEALTH
AB As the demand for applied behavior analysis (ABA) services for children with an autism spectrum disorder continues to grow, it is critical to develop efficient, effective, and widely accessible procedures for training technicians to implement ABA interventions. One approach would be to develop efficacious training programs that could be delivered over the Internet via a virtual private network (VPN). In the current study, we developed a 40-h virtual training program in which participants completed e-learning modules and also received behavioral skills training over a VPN to implement behavior reduction and skill acquisition protocols in both discrete-trail and play-based formats. This virtual training program was evaluated in a randomized-clinical trial (RCT) using direct-observation measures on the implementation of discrete-trial training and play-based procedures as the primary dependent variables (which were also collected via a VPN). Participants in the treatment group showed robust and statistically significant improvement in their implementation of behavior reduction and acquisition programs under both discrete-trial and play-based formats, and they rated the training as highly socially acceptable. These preliminary results from an ongoing RCT suggest that this effective, convenient, and socially acceptable virtual training program has the potential to extend access to ABA services to families in rural and other underserved areas or populations. (C) 2014 Elsevier LtdElsevier Ltd. All rights reserved.
C1 [Fisher, Wayne W.; Luczynski, Kevin C.; Hood, Stephanie A.; Lesser, Aaron D.; Machado, Mychal A.; Piazza, Cathleen C.] Univ Nebraska Med Ctr, Monroe Meyer Inst, Omaha, NE USA.
RP Fisher, WW (reprint author), Ctr Autism Spectrum Disorders, 985450 Nebraska Med Ctr, Omaha, NE 68198 USA.
EM WFisher@UNMC.Edu
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NR 32
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1044
EP 1054
DI 10.1016/j.rasd.2014.05.002
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600006
ER
PT J
AU Shih, CH
Chiang, MS
Wang, SH
Chen, CN
AF Shih, Ching-Hsiang
Chiang, Ming-Shan
Wang, Shu-Hui
Chen, Chih-Nung
TI Teaching two teenagers with autism spectrum disorders to request the
continuation of video playback using a touchscreen computer with the
function of automatic response to requests
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Touchscreen; ASD; SGD; Communication request
ID CONTROLLING ENVIRONMENTAL STIMULATION; FREE WIRELESS MICE; DESIGNATED
OCCUPATIONAL ACTIVITIES; FOLLOW SIMPLE INSTRUCTIONS; WII REMOTE
CONTROLLER; ASSISTING PEOPLE; DEVELOPMENTAL-DISABILITIES;
PHYSICAL-ACTIVITIES; ENABLING PEOPLE; BALANCE BOARDS
AB This study used a standard touchscreen computer with a newly developed Communication Request and Automatic Response Assistive Program (CRARAP) software package to evaluate whether two people with autism spectrum disorders (ASDs) would be able to actively perform communication requests to continue their preferred environmental stimulation. The CRARAP software was specifically developed for this study to combine the functions of a standard touchscreen computer with a speech-generating device (SGD) and the feature of automatic response to requests. A multiple probe design across participants was adopted in this study. The results show that both participants significantly improved their target responses in terms of performing the correct alternative communication request during the intervention phase, and retained this effective performance in the maintenance phase. The practical and developmental implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shih, Ching-Hsiang; Chiang, Ming-Shan; Wang, Shu-Hui; Chen, Chih-Nung] Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
RP Shih, CH (reprint author), Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
EM schee@mail.ndhu.edu.tw
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Shih CH, 2011, RES DEV DISABIL, V32, P2005, DOI 10.1016/j.ridd.2011.04.008
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Sigafoos J, 2013, RES AUTISM SPECT DIS, V7, P923, DOI 10.1016/j.rasd.2013.04.002
Warren Z, 2011, PEDIATRICS, V127, pE1303, DOI 10.1542/peds.2011-0426
Wikipedia, 2014, STIM
NR 29
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1055
EP 1061
DI 10.1016/j.rasd.2014.05.014
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600007
ER
PT J
AU Chuang, IC
Tseng, MH
Lu, L
Shieh, JY
Cermak, SA
AF Chuang, I-Ching
Tseng, Mei-Hui
Lu, Lu
Shieh, Jeng-Yi
Cermak, Sharon A.
TI Predictors of the health-related quality of life in preschool children
with Autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Caregiver's mental health; Parenting
stress; Preschool children with Autism spectrum disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; CEREBRAL-PALSY; PSYCHOMETRIC
PROPERTIES; QUESTIONNAIRE CHQ; MENTAL-HEALTH; DETERMINANTS;
ASSOCIATIONS; TEMPERAMENT; VALIDATION; CHILDHOOD
AB This study was aimed to identify the predictors of health-related quality of life (HRQOL) by considering the caregiver's characteristics such as mental health and parenting stress as well as child characteristics in preschool children with Autism spectrum disorders (ASD). A total of 106 children aged 36-70 months participated in this study. The study indicated that the predictors of HRQOL in children with ASD encompassed not only child but also caregiver characteristics. In particular, good HRQOL on the domains of social and emotional functioning in children with ASD depended upon the caregiver's mental well-being. In summary, the present findings highlight the need for assessment of caregivers' parenting stress and their mental status as well as the predictors of HRQOL in children with ASD. Furthermore, the findings of the study could serve as a guide for clinicians to target at the predictors when providing assessment and intervention for children with ASD to improve their HRQOL. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Chuang, I-Ching; Tseng, Mei-Hui] Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 10055, Taiwan.
[Tseng, Mei-Hui; Lu, Lu; Shieh, Jeng-Yi] Natl Taiwan Univ Hosp, Dept Phys Med & Rehabil, Taipei, Taiwan.
[Cermak, Sharon A.] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
RP Tseng, MH (reprint author), Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 10055, Taiwan.
EM mhtseng@ntu.edu.tw
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NR 58
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1062
EP 1070
DI 10.1016/j.rasd.2014.05.015
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600008
ER
PT J
AU Stasolla, F
Perilli, V
Damiani, R
Caffo, AO
Di Leone, A
Albano, V
Stella, A
Damato, C
AF Stasolla, Fabrizio
Perilli, Viviana
Damiani, Rita
Caffo, Alessandro O.
Di Leone, Antonia
Albano, Vincenza
Stella, Anna
Damato, Concetta
TI A microswitch-cluster program to enhance object manipulation and to
reduce hand mouthing by three boys with autism spectrum disorders and
intellectual disabilities
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Microswitch-cluster; Autism spectrum disorders; Developmental
disabilities; Indices of happiness; Quality of life
ID SCANNING KEYBOARD EMULATOR; MULTIPLE DISABILITIES; MOTOR DISABILITIES;
DEVELOPMENTAL-DISABILITIES; BEHAVIOR; TECHNOLOGY; CHILDREN; ENGAGEMENT;
INTERVENTIONS; INDIVIDUALS
AB We assessed a microswitch-cluster program to enhance object manipulation and to reduce hand mouthing by three boys with autism spectrum disorders and severe to profound intellectual disabilities. A second goal of the study was to monitor the effect of such program on the indices of happiness of the participants. The study has been carried out according to an ABB(1)AB(1) sequence, where A represented baseline phases, B represented intervention phase in which the adaptive response (i.e. object manipulation) was followed by a contingent positive stimulation irrespective of challenge behavior (i.e. hand mouthing), and B-1 indicated intervention phases in which an adaptive response was followed by a contingent positive stimulation only if it occurred with the simultaneous absence of the challenge behavior. Otherwise, positive stimulation was interrupted if the challenge behavior was exhibited during its supply. Results showed an increasing of the adaptive responses and a decrease of the challenge behavior during intervention phases. All participants spent less time with the exhibition of challenge behavior, during intervention phases, compared to baseline sessions. Finally, the indices of happiness augmented during intervention phases. Clinical, practical and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega Filo dOro Res Ctr, Molfetta, Italy.
[Perilli, Viviana] Lega Filo dOro Res Ctr, Lesmo, Italy.
[Damiani, Rita; Caffo, Alessandro O.; Di Leone, Antonia; Albano, Vincenza; Stella, Anna; Damato, Concetta] Univ Bari, Dept Educ Sci,Psychol,Commun, I-70121 Bari, Italy.
RP Stasolla, F (reprint author), Lega Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
CR Baeza-Velasco C, 2014, RES AUTISM SPECT DIS, V8, P304, DOI 10.1016/j.rasd.2013.12.004
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NR 37
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1071
EP 1078
DI 10.1016/j.rasd.2014.05.016
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600009
ER
PT J
AU Hambly, C
Fombonne, E
AF Hambly, Catherine
Fombonne, Eric
TI Factors influencing bilingual expressive vocabulary size in children
with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Language; Vocabulary; Bilingualism; Child
ID LANGUAGE; ENGLISH; TODDLERS; SKILLS
AB This study explored bilingual exposure, language, social impairment and cognitive factors that could influence second language (L2) expressive vocabulary size as measured on the MacArthur-Bates Communicative Development Inventories (various languages) in 33 children (mean age = 60 months) diagnosed with ASD. In the 23 children with L2 vocabularies, recent language exposure estimates accounted for 69% of the variation in L2 vocabulary size, and the VABS-II expressive scale score explained an additional 13% of the difference. The complete sample was then subgrouped into three levels of L2 vocabulary size to compare children with no L2 vocabularies (NON-B, n = 10), low L2 word counts (LOW-B, n = 11) and high L2 counts (HIGH-B, n = 12), as determined by a median split procedure. The HIGH-B group had significantly larger L1 vocabularies than both the LOW-B (p = .045) and the NON-B (p = .003) groups, and higher VABS-II expressive scale scores than both the LOW-B (p = .008) and the NON-B (p = .012) groups. Social impairment did not significantly differ across groups and cognitive impairment did not preclude the development of L2 vocabularies. Expressive bilingualism in this population appears related to high levels of recent direct L2 exposure in combination with stronger dominant language abilities. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hambly, Catherine; Fombonne, Eric] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97239 USA.
RP Hambly, C (reprint author), 14 Gulf Lane, Galveston, TX 77550 USA.
EM catherine.hambly@mail.mcgill.ca
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Yu B, 2013, AM J SPEECH-LANG PAT, V22, P10, DOI 10.1044/1058-0360(2012/10-0078)
NR 41
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1079
EP 1089
DI 10.1016/j.rasd.2014.05.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600010
ER
PT J
AU Uono, S
Sato, W
Toichi, M
AF Uono, Shota
Sato, Wataru
Toichi, Motorni
TI Reduced representational momentum for subtle dynamic facial expressions
in individuals with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Dynamic facial expression; Representational
momentum; Social impairment
ID PERVASIVE DEVELOPMENTAL DISORDER; EMOTIONAL EXPRESSIONS;
NORMAL-CHILDREN; HUMAN BRAIN; RECOGNITION; PERCEPTION; MOTION;
ADOLESCENTS; FACE; IMITATION
AB The cognitive mechanisms underlying social communication via emotional facial expressions are crucial for understanding the social impairments experienced by people with autism spectrum disorders (ASD). A recent study (Yoshikawa & Sato, 2008) found that typically developing individuals perceived the last image from a dynamic facial expression to be more emotionally exaggerated than a static facial expression; this perceptual difference is termed representational momentum (RM) for dynamic facial expressions. RM for dynamic facial expressions might be useful for detecting emotion in another's face and for predicting behavior changes. We examined RM for dynamic facial expressions using facial expression stimuli at three levels of emotional intensity (subtle, medium, and extreme) in people with ASD. We predicted that individuals with ASD would show reduced RM for dynamic facial expressions. Eleven individuals with ASD (three with Asperger's disorder and eight with pervasive developmental disorder not otherwise specified) and II IQ-, age- and gender-matched typically developing controls participated in this study. Participants were asked to select an image that matched the final image from dynamic and static facial expressions. Our results revealed that subjectively perceived images were more exaggerated for the dynamic than for the static presentation under all levels of intensity and in both groups. The ASD group, however, perceived a reduced degree of exaggeration for dynamic facial expressions under the subtle intensity condition. As facial expressions are often displayed subtly in daily communications, reduced RM for subtle dynamic facial expressions may prevent individuals with ASD from appropriately interacting with other people as a consequence of their difficulty detecting others' emotions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Uono, Shota; Toichi, Motorni] Kyoto Univ, Fac Human Hlth Sci, Grad Sch Med, Sakyo Ku, Kyoto 6068507, Japan.
[Sato, Wataru] Kyoto Univ, Primate Res Inst, Hakubi Project, Inuyama, Aichi 4848506, Japan.
[Toichi, Motorni] Org Promoting Dev Disorder Res, Sakyo Ku, Kyoto 6068392, Japan.
RP Uono, S (reprint author), Kyoto Univ, Fac Human Hlth Sci, Grad Sch Med, Sakyo Ku, 53 Shogoin Kawahara Cho, Kyoto 6068507, Japan.
EM uonoshota1982@gmail.com
CR Adolphs R, 2001, J COGNITIVE NEUROSCI, V13, P232, DOI 10.1162/089892901564289
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NR 58
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1090
EP 1099
DI 10.1016/j.rasd.2014.05.018
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600011
ER
PT J
AU Nordahl-Hansen, A
Kaale, A
Ulvund, SE
AF Nordahl-Hansen, Anders
Kaale, Anett
Ulvund, Stein Erik
TI Language assessment in children with autism spectrum disorder:
Concurrent validity between report-based assessments and direct tests
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Language assessment; ASD; Concurrent validity; Reynell Developmental
Language Scales; Mullen Scales of Early Learning; Communicative
Development Inventory
ID COMMUNICATIVE DEVELOPMENT INVENTORIES; PRESCHOOL-CHILDREN;
YOUNG-CHILDREN; PREDICTIVE-VALIDITY; JOINT ATTENTION; MULLEN SCALES;
COMPREHENSION; ABILITY; PARENT; SKILLS
AB Impairments in expressive and receptive language are common in individuals with autism spectrum disorder (ASD). Therefore, the importance of language assessment is emphasized in e.g. DSM-5. Thus, studies addressing the validity of different language measures are important. Parents and preschool teachers of 55 children diagnosed with childhood autism separately filled out the Communicative Development Inventory (CDI), a widely used report-based assessment of language. The children were also tested with the two standardized direct language tests: Reynell Developmental Language Scales (RDLS) and Mullen Scales of Early Learning (MSEL). Concurrent validity across the three measures was investigated. The results suggested very high agreement between the measures, and this was found regardless of whether parents or preschool teachers filled out the CDI. Given the difficulty in testing children with low language levels, as often is the case in young children with ASD, this study shows that several valid measures are available for measuring expressive and receptive language. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Nordahl-Hansen, Anders; Ulvund, Stein Erik] Univ Oslo, Dept Educ, N-0317 Oslo, Norway.
[Kaale, Anett] Oslo Univ Hosp, Div Mental Hlth & Addict, N-0424 Oslo, Norway.
RP Nordahl-Hansen, A (reprint author), Univ Oslo, Dept Educ, POB 1092, N-0317 Oslo, Norway.
EM a.j.n.hansen@iped.uio.no
CR Akshoomoff N, 2006, CHILD NEUROPSYCHOL, V12, P269, DOI 10.1080/09297040500473714
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Bornstein MH, 1998, CHILD DEV, V69, P654, DOI 10.2307/1132196
Burns T. G., 2013, APPL NEUROPSYCHOL, V1, P33
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NR 37
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1100
EP 1106
DI 10.1016/j.rasd.2014.05.017
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600012
ER
PT J
AU King, ML
Takeguchi, K
Barry, SE
Rehfeldt, RA
Boyer, VE
Mathews, TL
AF King, Melissa L.
Takeguchi, Kazu
Barry, Shaina E.
Rehfeldt, Ruth Anne
Boyer, Valerie E.
Mathews, Therese L.
TI Evaluation of the iPad in the acquisition of requesting skills for
children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Requesting skills; iPad (R); Picture-based communication system
ID EXCHANGE COMMUNICATION-SYSTEM; VOICE OUTPUT COMMUNICATION;
SPEECH-GENERATING DEVICE; DEVELOPMENTAL-DISABILITIES; PECS
AB The iPad (R) with the Proloquo2Go (TM) application is designed to function as a speech-generating device (SGD). This study evaluates whether children with autism spectrum disorder (ASD) can acquire requesting skills using the iPad (R) with the Proloquo2Go (TM) application. Participants included three children with ASD between the ages of three and five. A multiple probe design across participants was used. Intervention phases were adapted and modified from the picture exchange communication system (PECS) (Bondy & Frost, 1994; Frost & Bondy, 2002). Results of this study support that children diagnosed with ASD can acquire skills needed to request preferred items using the iPad (R) with the Proloquo2Go (TM) application with training of a picture-based communication system. In addition, vocal requesting increased for the participants during the training phases in comparison to baseline probes. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [King, Melissa L.; Takeguchi, Kazu; Barry, Shaina E.; Rehfeldt, Ruth Anne; Boyer, Valerie E.] So Illinois Univ, Carbondale, IL 62901 USA.
[Mathews, Therese L.] Univ Nebraska, Med Ctr, Munroe Meyer Inst, Lincoln, NE 68583 USA.
RP King, ML (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM melissa.king@unmc.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Barlow D.H., 2009, AUGMENTATIVE ALTERNA
Boesch MC, 2013, RES AUTISM SPECT DIS, V7, P480, DOI 10.1016/j.rasd.2012.12.002
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Frost L., 2002, PICTURE EXCHANGE COM, V2nd
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Lorah ER, 2013, J DEV PHYS DISABIL, V25, P637, DOI 10.1007/s10882-013-9337-1
National Research Council, 2001, ED CHILDR AUT
Proloquo2Go, ACC YOUR POCK ASS WA
Romski M. A., 1996, BREAKING SPEECH BARR
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Wodka E. L., 2013, PEDIATRICS, V131, pe1128
NR 29
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1107
EP 1120
DI 10.1016/j.rasd.2014.05.011
PG 14
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600013
ER
PT J
AU Hill, AP
Zuckerman, KE
Hagen, AD
Kriz, DJ
Duvall, SW
Van Santen, J
Nigg, J
Fair, D
Fombonne, E
AF Hill, Alison Presmanes
Zuckerman, Katharine E.
Hagen, Arlene D.
Kriz, Daniel J.
Duvall, Susanne W.
Van Santen, Jan
Nigg, Joel
Fair, Damien
Fombonne, Eric
TI Aggressive behavior problems in children with autism spectrum disorders:
Prevalence and correlates in a large clinical sample
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Psychotropic drugs; Aggression; Sleep;
Internalizing problems; Attention problems
ID CHALLENGING BEHAVIORS; PHYSICAL AGGRESSION; EARLY-CHILDHOOD;
INTELLECTUAL DISABILITIES; LANGUAGE IMPAIRMENT; YOUNG-PEOPLE;
RISK-FACTORS; TRAJECTORIES; SYMPTOMS; TODDLERS
AB Aggressive behavior problems (ABP) are frequent yet poorly understood in children with autism spectrum disorders (ASD) and are likely to co-vary significantly with comorbid problems. We examined the prevalence and sociodemographic correlates of ABP in a clinical sample of children with ASD (N = 400; 2-16.9 years). We also investigated whether children with ABP experience more intensive medical interventions, greater impairments in behavioral functioning, and more severe comorbid problems than children with ASD who do not have ABP. One in four children with ASD had Child Behavior Checklist scores on the Aggressive Behavior scale in the clinical range (T-scores >= 70). Sociodemographic factors (age, gender, parent education, race, ethnicity) were unrelated to ABP status. The presence of ABP was significantly associated with increased use of psychotropic drugs and melatonin, lower cognitive functioning, lower ASD severity, and greater comorbid sleep, internalizing, and attention problems. In multivariate models, sleep, internalizing, and attention problems were most strongly associated with ABP. These comorbid problems may hold promise as targets for treatment to decrease aggressive behavior and proactively identify high-risk profiles for prevention. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hill, Alison Presmanes; Van Santen, Jan] Oregon Hlth & Sci Univ, Dept Pediat, Ctr Spoken Language Understanding, Portland, OR 97239 USA.
[Hill, Alison Presmanes; Hagen, Arlene D.; Kriz, Daniel J.; Duvall, Susanne W.; Van Santen, Jan; Fombonne, Eric] Oregon Hlth & Sci Univ, Inst Dev & Disabil, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Dept Pediat, Div Gen Pediat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Dept Pediat, Child & Adolescent Hlth Measurement Initiat, Portland, OR 97239 USA.
[Hagen, Arlene D.; Nigg, Joel; Fair, Damien] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97239 USA.
[Fair, Damien; Fombonne, Eric] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97239 USA.
RP Hill, AP (reprint author), 3181 Southwest Sam Jackson Pk Rd GH 40, Portland, OR 97239 USA.
EM hillali@ohsu.edu
CR Achenbach T, 2000, MANUAL ASEBA PRESCHO
Achenbach T. M., 2001, MANUAL ASEBA SCHOOL
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bishop SL, 2011, AJIDD-AM J INTELLECT, V116, P331, DOI 10.1352/1944-7558-116.5.331
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NR 73
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1121
EP 1133
DI 10.1016/j.rasd.2014.05.006
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600014
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Dickerson, AS
Loveland, KA
Ardjomand-Hessabi, M
Bressler, J
Lee, M
Shakespeare-Pellington, S
Grove, ML
Pearson, DA
Boervvinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Dickerson, Aisha S.
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Bressler, Jan
Lee, MinJae
Shakespeare-Pellington, Sydonnie
Grove, Megan L.
Pearson, Deborah A.
Boervvinkle, Eric
TI Role of fruits, grains, and seafood consumption in blood cadmium
concentrations of Jamaican children with and without Autism Spectrum
Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Cadmium; Autism Spectrum Disorder; Grains; Fruits; Seafood; Jamaica
ID FISH CONSUMPTION; HEAVY-METALS; QUANTILE REGRESSION; CHILDHOOD AUTISM;
EXPOSURE; POPULATION; HAIR; LEAD; ACCUMULATION; ENVIRONMENT
AB Human exposure to cadmium has adverse effects on the nervous system. Utilizing data from 110 age- and sex-matched case-control pairs (220 children) ages 2-8 years in Kingston, Jamaica, we compared the 75th percentile of blood cadmium concentrations in children with and without Autism Spectrum Disorder (ASD). In both univariable and multivariable Quantile Regression Models that controlled for potential confounding factors, we did not find any significant differences between ASD cases and typically developing (TD) controls with respect to the 75th percentile of blood cadmium concentrations (P > 0.22). However, we found a significantly higher 75th percentile of blood cadmium concentrations in TD Jamaican children who consumed shellfish (lobsters, crabs) (P < 0.05), fried plantain (P < 0.01), and boiled dumpling (P < 0.01). We also observed that children living in Jamaica have an arithmetic mean blood cadmium concentration of 0.16 mu g/L which is similar to that of the children in developed countries and much lower than that of children in developing countries. Although our results do not support an association between blood cadmium concentrations and ASD, to our knowledge, this study is the first to report levels of blood cadmium in TD children as well as those with ASD in Jamaica. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rahbar, Mohammad H.; Dickerson, Aisha S.; Boervvinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Lee, MinJae] Univ Texas Hlth Sci Ctr Houston, Dept Internal Med, Univ Texas Med Sch, Div Clin & Translat Sci, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Dickerson, Aisha S.; Ardjomand-Hessabi, Manouchehr] Univ Texas Hlth Sci Ctr Houston, CCTS, BERD, Houston, TX 77030 USA.
[Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston 7, Jamaica.
[Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Hlth Sci Ctr Houston, Univ Texas Med Sch, Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Boervvinkle, Eric] Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA.
RP Rahbar, MH (reprint author), Univ Texas Hlth Sci Ctr Houston, Ctr Clin & Translat Sci, 6410 Fannin St,UT Professional Bldg Suite 1100-05, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu; msammsvaughan@gmail.com;
Aisha.S.Dickerson@uth.tmc.edu; Katherine.A.Loveland@uth.tmc.edu;
Manouchehr.A.Hessabi@uth.tmc.edu; Jan.Bressler@uth.tmc.edu;
MinJae.Lee@uth.tmc.edu; sydonniesp@gmail.com; Megan.L.Grove@uth.tmc.edu;
Deborah.A.Pearson@uth.tmc.edu; Eric.Boerwinkle@uth.tmc.edu
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NR 68
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1134
EP 1145
DI 10.1016/j.rasd.2014.06.002
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600015
ER
PT J
AU Lacroix, A
Guidetti, M
Roe, B
Reilly, J
AF Lacroix, Agnes
Guidetti, Michele
Roge, Bernadette
Reilly, Judy
TI Facial emotion recognition in 4-to 8-year-olds with autism spectrum
disorder: A developmental trajectory approach
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Emotion recognition; Developmental delay
ID CHILDREN; EXPRESSIONS; FACES; PERCEPTION; VOICES; PEOPLE
AB The investigation of emotion recognition in autism spectrum disorder (ASD) has both theoretical and practical implications. However, although many studies have examined facial emotion recognition in ASD, some points remain unclear. We therefore studied facial emotion recognition in young children with ASD across a small age range, in order to determine (1) their ability to recognize emotion and (2) the developmental trajectory of this ability. Twenty-two children with ASD aged 4-8 years were compared with typically developing children matched on either chronological age or verbal mental age. We administered three facial emotion tasks: matching, identification, and labeling. Results showed that children with ASD and typically developing children had difficulty with labeling emotions, but not with matching or identifying them. Happiness was the easiest to recognize, and surprise the hardest. The children with ASD did not exhibit delayed onset in the development of facial emotion recognition. To conclude, emotion recognition difficulties in children with ASD primarily concern the recognition of negative emotions and the identification of surprise, as they do in TD groups. This should be taken into account in future research, as well as in the design of future intervention programs. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lacroix, Agnes] Univ Rennes 2, Ctr Rech Psychol Cognit & Commun, EA 1285, F-35000 Rennes, France.
[Guidetti, Michele] Univ Toulouse 2, Octogone ECCD, Unite Rech Interdisciplinaire, EA 4156, F-31058 Toulouse 09, France.
[Roge, Bernadette] Univ Toulouse 2, Octogone CERPP, Unite Rech Interdisciplinaire ea 4156, F-31058 Toulouse 9, France.
[Reilly, Judy] San Diego State Univ, San Diego, CA 92182 USA.
RP Lacroix, A (reprint author), Univ Rennes 2, Ctr Rech Psychol Cognit & Commun, EA 1285, Pl Recteur Henri Moal, F-35000 Rennes, France.
EM agnes.lacroix@univ-rennes2.fr; guidetti@univ-tIse2.fr;
roge@univ-tIse2.fr; reillyl@mail.sdsu.edu
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NR 31
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1146
EP 1154
DI 10.1016/j.rasd.2014.05.012
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600016
ER
PT J
AU Zeedyk, SM
Rodriguez, G
Tipton, LA
Baker, BL
Blocher, J
AF Zeedyk, S. M.
Rodriguez, G.
Tipton, L. A.
Baker, B. L.
Blocher, J.
TI Bullying of youth with autism spectrum disorder, intellectual
disability, or typical development: Victim and parent perspectives
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Intellectual disability; Bullying; Adolescents; Friendship
ID HIGH-FUNCTIONING AUTISM; SOCIAL-SKILLS; ADOLESCENTS; FRIENDSHIP;
CHILDREN; PREVALENCE; SCHOOL; LONELINESS; VICTIMIZATION; ADJUSTMENT
AB In-depth interviews conducted separately with 13-year-olds with autism spectrum disorder (ASD), intellectual disability (ID), or typical development (TD) and their mothers investigated the experiences of victimization in the form of bullying. Coded constructs from the interviews were utilized to compare groups on the frequency, type, and impact of victimization. Youth with ASD were victimized more frequently than their ID or TO peers, and the groups differed with regard to the type of bullying and the impact it had, with ASD youth faring the worst. Higher internalizing problems and conflict in friendships were found to be significant predictors of victimization, according to both youth- and mother-reports. These predictors were found to be more salient than ASD status alone. Implications for practice are discussed. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Zeedyk, S. M.; Rodriguez, G.; Tipton, L. A.; Blocher, J.] Univ Calif Riverside, Grad Sch Educ, Attn SEARCH Ctr, Riverside, CA 92521 USA.
Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
RP Zeedyk, SM (reprint author), Univ Calif Riverside, Grad Sch Educ, Attn SEARCH Ctr, Riverside, CA 92521 USA.
EM szeed001@ucr.edu; geovanna.rodriguez@ucr.edu; Itipt001@ucr.edu;
baker@psych.ucla.edu; jan.blacher@ucr.edu
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Schmidt ME, 2007, MERRILL PALMER QUART, V53, P439, DOI 10.1353/mpq.2007.0021
Seltzer MM, 2004, J AUTISM DEV DISORD, V34, P41, DOI 10.1023/B:JADD.0000018073.92982.64
Solish A, 2010, J APPL RES INTELLECT, V23, P226, DOI 10.1111/j.1468-3148.2009.00525.x
Sparrow S. S., 2005, VINELAND SCALES ADAP
Tipton LA, 2013, J APPL RES INTELLECT, V26, P522, DOI 10.1111/jar.12051
Tse J, 2007, J AUTISM DEV DISORD, V37, P1960, DOI 10.1007/s10803-006-0343-3
van Roekel E, 2010, J AUTISM DEV DISORD, V40, P63, DOI 10.1007/s10803-009-0832-2
Wainscot J. J., 2008, INT J PSYCHOL PSYCHO, V8, P25
Wechsler D., 2003, WECHSLER INTELLIGENC
White SW, 2009, CLIN PSYCHOL REV, V29, P216, DOI 10.1016/j.cpr.2009.01.003
White SW, 2010, FOCUS AUTISM DEV DIS, V25, P209, DOI 10.1177/1088357610380595
Whitehouse AJO, 2009, J ADOLESCENCE, V32, P309, DOI 10.1016/j.adolescence.2008.03.004
NR 54
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1173
EP 1183
DI 10.1016/j.rasd.2014.06.001
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600018
ER
PT J
AU Bardikoff, N
McGonigle-Chalmers, M
AF Bardikoff, Nicole
McGonigle-Chalmers, Margaret
TI Testing nonverbal IQ in children with Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE WISC-III; WISC-IV; KABC-II; Nonverbal IQ; Children with Autism; Spectrum
Disorders
ID HIGH-FUNCTIONING AUTISM; WECHSLER INTELLIGENCE SCALE; PROCESSING SPEED;
MATCHING STRATEGIES; ASPERGERS-SYNDROME; WISC-III; PROFILES; IV;
INDIVIDUALS; ABILITIES
AB 15 high-functioning school aged children with ASD and 15 neurotypically developing age matched controls were assessed using the WISC-IV and the KABC-II in order to assess whether the WISC-IV has rectified problems associated with the WISC-III's undue emphasis on timing measures. No significant group differences were found for the PRI sub-scale of the WISC-IV nor for the nonverbal scale of the KABC-II, but the ASD group scored significantly lower than controls on the Processing Speed Index of the WISC-IV. This supports the need to isolate of timing criteria when IQ testing in populations with ASD, as is now the case with the WISC-IV. However significantly higher scores were obtained for the KABC-II versus the PRI for children with ASD only. The reasons for this are discussed with regard to a possible cultural bias in the Picture Concepts subtest of the WISC-IV. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Bardikoff, Nicole; McGonigle-Chalmers, Margaret] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9QU, Midlothian, Scotland.
RP Bardikoff, N (reprint author), Univ Edinburgh, Dept Psychol, 7 George Sq, Edinburgh EH8 9QU, Midlothian, Scotland.
EM n.bardikoff@ed-alumni.net; 12nb42@queensu.ca
CR ALLEN MH, 1991, J AUTISM DEV DISORD, V21, P483, DOI 10.1007/BF02206872
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Burack JA, 2004, J AUTISM DEV DISORD, V34, P65, DOI 10.1023/B:JADD.0000018076.90715.00
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Keith TZ, 2006, SCHOOL PSYCHOL REV, V35, P108
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Mayes SD, 2004, CLIN NEUROPSYCHOL, V18, P559, DOI 10.1080/13854040490888530
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Wechsler D., 2003, WISC 4 TECHNICAL INT
Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd
NR 33
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1200
EP 1207
DI 10.1016/j.rasd.2014.06.007
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600020
ER
PT J
AU Dixon, MR
Whiting, SW
Rowsey, K
Belisly, J
AF Dixon, Mark R.
Whiting, Seth W.
Rowsey, Kyle
Belisly, Jordan
TI Assessing the relationship between intelligence and the PEAK relational
training system
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ABA therapy; Intelligence quotient; Language; Verbal behavior therapy
ID AUTISM SPECTRUM DISORDERS; BEHAVIORAL TREATMENT; CHILDREN; IQ;
PREDICTORS
AB The Promoting the Emergence of Advanced Knowledge (PEAK) Relational Training System is an assessment and curriculum tool developed for basic and advanced skills using behavior analytic approaches. The current study evaluated the relationship between intelligence (as measured by IQ scores) and performance on the PEAK assessment with children with autism or other developmental and intellectual disabilities. Each child was administered the PEAK assessment from the Direct Training Module. Scores from this assessment were compared to IQ scores for all participants to assess the relationship between the two measures. Results indicated a strong, significant correlation between scores on standardized IQ tests and scores on the PEAK assessment (r= .759, p< .01). The results demonstrated strong convergent validity and indicate that the PEAK may be a useful assessment and curriculum guide for training language and learning skills to individuals with autism and other developmental disabilities. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Dixon, Mark R.; Whiting, Seth W.; Rowsey, Kyle; Belisly, Jordan] So Illinois Univ, Carbondale, IL 62901 USA.
RP Dixon, MR (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR Bishop SL, 2011, AJIDD-AM J INTELLECT, V116, P331, DOI 10.1352/1944-7558-116.5.331
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Brody N, 1997, AM PSYCHOL, V52, P1046, DOI 10.1037/0003-066X.52.10.1046
Charman T, 2011, PSYCHOL MED, V41, P619, DOI 10.1017/S0033291710000991
Dixon M. R, J DEV PHYS IN PRESS
Dixon M. R., 2014, PEAK RELATIONAL TRAI
Greer R Douglas, 2005, Anal Verbal Behav, V21, P99
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Hayward D. V., 2008, LANGUAGE PHONOLOGICA, P1
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Partington J. W., 2008, ASSESSMENT BASIC LAN
Reichow B, 2009, J AUTISM DEV DISORD, V39, P23, DOI 10.1007/s10803-008-0596-0
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Stahmer A. C., 2005, FOCUS AUTISM OTHER D, V20, P66, DOI DOI 10.1177/1088357
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Sturmey P, 2002, CURR OPIN PSYCHIATR, V15, P489, DOI 10.1097/00001504-200209000-00005
Sundberg M. L., 2008, VERBAL BEHAV MILESTO
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NR 20
TC 4
Z9 4
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1208
EP 1213
DI 10.1016/j.rasd.2014.05.005
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600021
ER
PT J
AU Tomchek, SD
Huebner, RA
Dunn, W
AF Tomchek, Scott D.
Huebner, Ruth A.
Dunn, Winnie
TI Patterns of sensory processing in children with an autism spectrum
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sensory processing; Assessment
ID YOUNG-CHILDREN; ASPERGER SYNDROME; INFANTILE-AUTISM; MOTOR IMPAIRMENT;
LEARNING-DISABILITIES; DEVELOPMENTAL DELAY; TYPICAL DEVELOPMENT;
ADAPTIVE-BEHAVIOR; ABNORMALITIES; SYMPTOMS
AB The literature describing individuals with autism spectrum disorders (ASDs) commonly includes descriptions of differences in sensory processing. The purpose of this study was to describe patterns of sensory processing found in 400 children with an ASD. Exploratory factor analysis identified 6 parsimonious factors: low energy/weak, tactile and movement sensitivity, taste/smell sensitivity, auditory and visual sensitivity, sensory seeking/distractibility, and hypo-responsivity. These factors are consistent with other reports about differences in sensory processing. Findings provide insights about practice and future research. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Tomchek, Scott D.] Univ Louisville, Sch Med, Weisskopf Child Evaluat Ctr, Dept Pediat, Louisville, KY 40202 USA.
[Huebner, Ruth A.] Eastern Kentucky Univ, Richmond, KY USA.
[Tomchek, Scott D.; Dunn, Winnie] Univ Kansas, Med Ctr, Occupat Therapy Educ Program, Lawrence, KS 66045 USA.
RP Tomchek, SD (reprint author), Univ Louisville, Weisskopf Child Evaluat Ctr, Dept Pediat, 571 South Floyd St,Suite 100, Louisville, KY 40202 USA.
EM scott.tomchek@lousville.edu
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NR 82
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1214
EP 1224
DI 10.1016/j.rasd.2014.06.006
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600022
ER
PT J
AU Stern, JA
Gadgil, MS
Blakeley-Smith, A
Reaven, JA
Hepburn, SL
AF Stern, Jessica A.
Gadgil, Milind S.
Blakeley-Smith, Audrey
Reaven, Judy A.
Hepburn, Susan L.
TI Psychometric properties of the SCARED in youth with autism spectrum
disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Anxiety; Assessment; Validity; Factor analysis
ID CHILDRENS ANXIETY SCALE; TEST-RETEST RELIABILITY; EMOTIONAL DISORDERS;
DSM-IV; PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; CO-MORBIDITY;
SCREEN; VALIDITY; ADOLESCENTS
AB Children with autism spectrum disorder (ASD) are at increased risk of developing co-occurring anxiety symptoms. However, the assessment of anxiety symptoms in this population is often challenging for researchers and clinicians. This study evaluated the psychometric properties of a questionnaire measure of child anxiety symptoms, the Screen for Child Anxiety Related Emotional Disorders (SCARED), in school-aged children and adolescents with high-functioning ASD. Children and parents recruited for an anxiety treatment study completed the SCARED parent and child versions prior to the start of treatment. Both versions demonstrated factor structures, internal reliability, and score distributions largely consistent with those from typically developing samples (Birmaher et al., 1999). The SCARED showed moderate convergent validity with a structured clinical interview and had good sensitivity and specificity. Differences were explored by child age, gender, and ethnicity. Together, these findings support the use of the SCARED as a valid assessment tool in an ASD population. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Stern, Jessica A.; Blakeley-Smith, Audrey; Reaven, Judy A.; Hepburn, Susan L.] Univ Colorado, Denver Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
[Gadgil, Milind S.] Kaiser Permanente Colorado Reg, Hidden Lake Mental Hlth, Arvada, CO 80003 USA.
RP Hepburn, SL (reprint author), Univ Colorado, Denver Sch Med, Dept Psychiat, 13121 E 17th Pl,Mailstop C-234, Aurora, CO 80045 USA.
EM susan.hepburn@ucdenver.edu
CR Achenbach T. M, 1980, CHILD BEHAV CHECKLIS
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Birmaher B, 1997, J AM ACAD CHILD PSY, V36, P545, DOI 10.1097/00004583-199704000-00018
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NR 51
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1225
EP 1234
DI 10.1016/j.rasd.2014.06.008
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600023
ER
PT J
AU Tung, LC
Huang, CY
Tseng, MH
Yen, HC
Tsai, YP
Lin, YC
Chen, KL
AF Tung, Li-Chen
Huang, Chien-Yu
Tseng, Mei-Hui
Yen, Hsui-Chen
Tsai, Yu-Pei
Lin, Yu-Ching
Chen, Kuan-Lin
TI Correlates of health-related quality of life and the perception of its
importance in caregivers of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Autism; Parenting stress; Behavior
problems
ID CHILDHOOD AUTISM; PARENTING STRESS; RATING-SCALE; DISORDERS; BEHAVIOR;
VERSION; MOTHERS; DISABILITY; VALIDITY; AGE
AB This study aims to investigate the correlates of health-related quality of life (HRQOL) and perceptions of the importance of each HRQOL domain in caregivers of children with autism. Eighty-two caregivers completed the World Health Organization Quality of Life and Parenting Stress Index Short Form to respectively measure the caregivers' HRQOL and parenting stress. The Childhood Autism Rating Scale and the Strength and Difficulties Questionnaire were used to respectively assess severity of autism and children's behavior problems. Results revealed that severity of autism, behavior problems, and parenting stress individually had low to moderate associations with HRQOL. However, all variables considered together, only parental distress (parent-related stress) significantly contributed to the four HRQOL domains. In addition, the physical domain was the most important HRQOL domain to caregivers, and environmental domain, the least. Knowledge of the correlates of HRQOL and the importance of each HRQOL domain could serve as guides for clinicians to improve the HRQOL of caregivers of children with autism by targeting parental distress and focusing on the HRQOL domains perceived as most important by caregivers. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Tung, Li-Chen; Yen, Hsui-Chen; Tsai, Yu-Pei] Chi Mei Med Ctr, Dept Phys Med & Rehabil, Tainan 710, Taiwan.
[Tung, Li-Chen] Kaohsiung Med Univ, Sch Med, Kaohsiung 807, Taiwan.
[Huang, Chien-Yu; Tseng, Mei-Hui] Natl Taiwan Univ, Coll Med, Sch Occupat Therapy, Taipei 100, Taiwan.
[Lin, Yu-Ching] Natl Cheng Kung Univ Hosp, Tainan 704, Taiwan.
[Chen, Kuan-Lin] Natl Cheng Kung Univ, Coll Med, Sch Occupat Therapy, Tainan 701, Taiwan.
RP Chen, KL (reprint author), Natl Cheng Kung Univ, Coll Med, Sch Occupat Therapy, 1 Univ Rd, Tainan 701, Taiwan.
EM klchen@mail.ncku.edu.tw
CR ABIDIN RR, 1992, J CLIN CHILD PSYCHOL, V21, P407, DOI 10.1207/s15374424jccp2104_12
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 28
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1235
EP 1242
DI 10.1016/j.rasd.2014.06.010
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600024
ER
PT J
AU Hill, TL
Varela, RE
Kamps, JL
Niditch, LA
AF Hill, Trenesha L.
Varela, R. Enrique
Kamps, Jodi L.
Niditch, Laura A.
TI Local processing and social skills in children with Autism Spectrum
Disorders: The role of anxiety and cognitive functioning
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Local processing; Anxiety; Social skills;
Cognitive functioning
ID PERVASIVE DEVELOPMENTAL DISORDERS; WEAK CENTRAL COHERENCE; DIAGNOSTIC
INTERVIEW; INDIVIDUALS; ATTENTION; FACES; ASSOCIATION; PERFORMANCE;
PRECEDENCE; INVERSION
AB The present study examined the relations between anxiety, cognitive functioning, local processing, and social skills in a group of 102 children diagnosed with an Autism Spectrum Disorder. The results indicated that children diagnosed with Asperger's Disorder had significantly higher cognitive functioning and enhanced local processing (i.e., Block Design scores) compared to those diagnosed with Autistic Disorder or PDD-NOS. Regression analyses results showed that anxiety and cognitive functioning moderated the association between local processing and social skills. For children with low cognitive functioning and high anxiety, greater local processing was associated with poorer social skills than those with high cognitive functioning, high anxiety, and greater local processing. For children with high cognitive functioning and high anxiety, enhanced local processing was associated with better social skills than those with high cognitive functioning and reduced local processing. Implications of these findings are discussed. (c) 2014 Elsevier Ltd. All rights reserved.
C1 [Hill, Trenesha L.; Varela, R. Enrique; Niditch, Laura A.] Tulane Univ, Dept Psychol, New Orleans, LA 70118 USA.
[Kamps, Jodi L.] Childrens Hosp, New Orleans, LA 70118 USA.
RP Varela, RE (reprint author), Tulane Univ, Dept Psychol, 2007 Percival Stern Hall,6400 Freret St, New Orleans, LA 70118 USA.
EM thill@tulane.edu; evarela@tulane.edu; jkamps@chnola.org;
lniditch@tulane.edu
CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
BARTLETT JC, 1993, COGNITIVE PSYCHOL, V25, P281, DOI 10.1006/cogp.1993.1007
Basso M R, 1996, J Int Neuropsychol Soc, V2, P249
Bellini S., 2004, FOCUS AUTISM OTHER D, V19, P78, DOI DOI 10.1177/10883576040190020201
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Wechsler D., 2002, WECHSLER PRESCHOOL A
NR 33
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD SEP
PY 2014
VL 8
IS 9
BP 1243
EP 1251
DI 10.1016/j.rasd.2014.06.005
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AN6GS
UT WOS:000340693600025
ER
PT J
AU Rosqvist, HB
AF Rosqvist, Hanna Bertilsdotter
TI Becoming an 'Autistic Couple': Narratives of Sexuality and Couplehood
Within the Swedish Autistic Self-advocacy Movement
SO SEXUALITY AND DISABILITY
LA English
DT Article
DE Couple; Autism; Autistic sexuality; Neurotypical sexuality;
Self-advocacy; Sweden
ID PARENTAL PERSPECTIVE; ADOLESCENTS; ADULTS; ATTITUDES; KNOWLEDGE;
DISORDER
AB Research on sexuality and autism is dominated by a sexually deficit view of autism. According to this view, people with autism are considered different from neurotypicals and in need of sexual education that is specially adapted to the social impairments of people with autism. Perspectives on sexuality, couplehood, and autism are gradually changing, and this is partly because of alternative views on autism expressed and advocated within autistic self-advocacy movements. The present paper explores discourses within the Swedish autistic self-advocacy movement of an 'autistic' sexuality and couplehood (sexuality and couplehood on people with autism's own terms). The analysis is based on articles in a Swedish magazine, Empowerment, published between 2002 and 2009 that was produced by and aimed at adults with autism.
C1 Umea Univ, Dept Social Work, S-90187 Umea, Sweden.
RP Rosqvist, HB (reprint author), Umea Univ, Dept Social Work, S-90187 Umea, Sweden.
EM hanna.bertilsdotter.rosqvist@umu.se
CR Areschoug J., 2005, J DISABIL RES, V7, P155
Armstrong T., 2010, NEURODIVERSITY DISCO
Ballan MS, 2012, J AUTISM DEV DISORD, V42, P676, DOI 10.1007/s10803-011-1293-y
Bray-Garretson H., 2004, SEXUAL ADDICTION COM, V11, P265, DOI DOI 10.1080/10720160490900614
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Edley Nigel, 2001, DISCOURSE DATA GUIDE
Garland-Thomson R., 1997, EXTRAORDINARY BODIES
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Tissot C, 2009, AUTISM, V13, P551, DOI 10.1177/1362361309338183
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NR 23
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0146-1044
EI 1573-6717
J9 SEX DISABIL
JI Sex. Disabil.
PD SEP
PY 2014
VL 32
IS 3
BP 351
EP 363
DI 10.1007/s11195-013-9336-2
PG 13
WC Rehabilitation
SC Rehabilitation
GA AN4PN
UT WOS:000340570200009
ER
PT J
AU Byers, ES
Nichols, S
AF Byers, E. Sandra
Nichols, Shana
TI Sexual Satisfaction of High-Functioning Adults with Autism Spectrum
Disorder
SO SEXUALITY AND DISABILITY
LA English
DT Article
DE Sexual satisfaction; Autism spectrum disorder; Sexuality; Asperger
syndrome; Canada; United States
ID INTERPERSONAL EXCHANGE MODEL; RESPONSE RATES; HELP-SEEKING; QUOTIENT AQ;
ADOLESCENTS; SAMPLE; MEN; VALIDATION; VALIDITY; INDIVIDUALS
AB This study examined the validity of the Interpersonal Exchange Model of Sexual Satisfaction (IEMSS) as a framework for understanding the sexual satisfaction of 205 adults (77 men and 128 women) with high-functioning autism spectrum disorder (HF-ASD) who were in a romantic relationship of at least 3 months duration. Participants completed an online survey that included a background questionnaire, the IEMSS Questionnaire, and a measure of autism symptoms. The results provide support for the validity of the IEMSS in that all the IEMSS components (relationship satisfaction, balance of sexual rewards and costs, balance of relative sexual rewards and costs, equality of rewards, equality of costs) were significantly associated with sexual satisfaction. Relationship satisfaction and the balance of rewards and costs added over and above the other components. The model was not moderated by gender, relationship duration or extent of autism symptoms. However, participants with more autism symptoms related to social functioning reported lower sexual satisfaction as well as lower scores on all of the IEMSS components. There were few gender differences. These results are discussed in terms of the impact of HF-ASD on adults' experiences of their sexual satisfaction with their partner.
C1 [Byers, E. Sandra] Univ New Brunswick, Dept Psychol, Fredericton, NB E3B 5A3, Canada.
[Nichols, Shana] ASPIRE Ctr Learning & Dev, Melville, NY USA.
RP Byers, ES (reprint author), Univ New Brunswick, Dept Psychol, POB 4400, Fredericton, NB E3B 5A3, Canada.
EM byers@unb.ca
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NR 53
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0146-1044
EI 1573-6717
J9 SEX DISABIL
JI Sex. Disabil.
PD SEP
PY 2014
VL 32
IS 3
BP 365
EP 382
DI 10.1007/s11195-014-9351-y
PG 18
WC Rehabilitation
SC Rehabilitation
GA AN4PN
UT WOS:000340570200010
ER
PT J
AU Daley, TC
Weisner, T
Singhal, N
AF Daley, Tamara C.
Weisner, Thomas
Singhal, Nidhi
TI Adults with autism in India: A mixed-method approach to make meaning of
daily routines
SO SOCIAL SCIENCE & MEDICINE
LA English
DT Article
DE India; Autism Spectrum Disorders; Disability; Daily routine; Ecocultural
ID PARENTING STRESS; SPECTRUM DISORDERS; URBAN INDIA; CHILDREN;
PERSPECTIVES; DISABILITY; FAMILIES; LIFE
AB Although individuals with Autism Spectrum Disorder (ASD) have been diagnosed in India for over fifty years, virtually nothing is known about the social circumstances of adults, their daily lives, and their families. Where are adults with autism? How do they spend their time? Who are they with, and what are they doing all day? A mixed-method approach was used to obtain information on daily routines of 54 adults with ASD living in New Delhi, India, and about parent levels of stress associated with these routines during a study collected from January through June, 2013. Whether or not they attended a structured setting during the day (59% did so), adults engaged in some 20 activities both inside and outside their home. Contrary to our expectations, most adults were not "hidden" and were out in public at least on occasion. Higher functioning adults were more likely to attend a structured setting, but parents described challenging behaviors, both adult and parent preference, and lack of options as reasons that adults stayed home. The amount of time adults spent outside their home was not associated with parent reported stress, but stress was significantly higher for mothers who were employed. Most families described adaptation to caring for their adult children. A partnership with an Indian nongovernmental organization provided mechanisms to amplify our research findings, making them meaningful to our participants and others. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Daley, Tamara C.] Westat Corp, Durham, NC 27703 USA.
[Weisner, Thomas] Univ Calif Los Angeles, Dept Psychiat, Ctr Culture & Hlth, NPI Semel Inst Neurosci, Los Angeles, CA 90024 USA.
[Singhal, Nidhi] Act Autism, New Delhi 110025, India.
RP Daley, TC (reprint author), Westat Corp, 1009 Slater Rd, Durham, NC 27703 USA.
EM TamaraDaley@westat.com
FU Foundation for Psychocultural Research [59892]; Robert Lemelson,
President (FPR) - Culture, Brain, Development and Mental Health (CBDMH);
Action For Autism, New Delhi; FPR
FX This project is funded through a grant from the Foundation for
Psychocultural Research (Grant #59892), Robert Lemelson, President (FPR)
- Culture, Brain, Development and Mental Health (CBDMH) (Tom Weisner,
PI; Tamara Daley, Co-PI) and in partnership with Action For Autism, New
Delhi (Nidhi Singhal and Merry Barua). FPR-UCLA CBDMH is one of the
interdisciplinary programs initiated and funded by the FPR. The RAFIN
Adult study was managed by Deepali Taneja, with key assistance from
Sachita Suryanarayan. Additional team members in India were Tanvi Behl,
Rubina Pradhan, and Simi Sunny. Rachel Brezis also contributed to the
project while completing a postdoctorate at UCLA, supported by the FPR.
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NR 41
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0277-9536
J9 SOC SCI MED
JI Soc. Sci. Med.
PD SEP
PY 2014
VL 116
BP 142
EP 149
DI 10.1016/j.socscimed.2014.06.052
PG 8
WC Public, Environmental & Occupational Health; Social Sciences, Biomedical
SC Public, Environmental & Occupational Health; Biomedical Social Sciences
GA AN6HN
UT WOS:000340695700017
PM 24998867
ER
PT J
AU Delgado, MS
Camprubi, C
Tumer, Z
Martinez, F
Mila, M
Monk, D
AF Delgado, Marta Sanchez
Camprubi, Cristina
Tuemer, Zeynep
Martinez, Francisco
Mila, Montserrat
Monk, David
TI Screening Individuals with Intellectual Disability, Autism and
Tourette's Syndrome for KCNK9 Mutations and Aberrant DNA Methylation
within the 8q24 Imprinted Cluster
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE Imprinting; methylation; KCNK9; autism spectrum disorder; intellectual
disability
ID MENTAL-RETARDATION; GENE; EXPRESSION; TRAPPC9; UBE3A; IDENTIFICATION;
HETEROGENEITY; DEFICIENCY; TRANSCRIPT; DISORDERS
AB The phenotype overlap between autism spectrum disorders (ASD) & intellectual disabilities (ID) is mirrored at the genetic level, with common genes being reported mutated in variety of developmental disabilities. However despite widespread genetic screening for mutations, in approximately 40-60% of childhood developmental disorders the genetic cause remains unknown. Several genome-wide linkage screens in ASD have identified a locus mapping to distal 8q. We have recently identified a novel brain-specific imprinted cluster at this location, which contains the reciprocally expressed maternal KCNK9 and paternally expressed non-coding PEG13 transcripts, the latter located within an intron of TRAPPC9. Interestingly, mutations of KCNK9 and TRAPPC9 have been reported in Birk-Barel mental retardation and non-syndromic familial forms of ID, respectively. Here, we report a genetic screen for KCNK9 coding mutations and potential epigenetic aberrations that could result in deregulated imprinting in a cohort of 120 ID, 86 ASD and 86 Tourette syndrome patients. Fifteen of the ID patients had clinical characteristics overlapping with Birk-Barel syndrome. Sequencing of the two coding exons of KCNK9 failed to identify pathologic mutations, with only one variant, rs2615374, being present with allele frequencies similar to those described in dbSNP database. DNA methylation profiling of the KCNK9 and TRAPPC9 promoters, the maternally methylated PEG13 DMR and a long-range enhancer region were normal in all patients. Our findings suggest that mutations of KCNK9 or epigenetic disturbances within the PEG13 imprinted cluster do not significantly contribute to the cause of the developmental disabilities tested in this study. (C) 2014 Wiley Periodicals, Inc.
C1 [Delgado, Marta Sanchez; Camprubi, Cristina; Monk, David] Bellvitge Inst Biomed Res IDIBELL, Imprinting & Canc Grp, Canc Epigenet & Biol Program PEBC, Barcelona 08907, Spain.
[Tuemer, Zeynep] Rigshosp, Copenhagen Univ Hosp, Kennedy Ctr, Appl Human Mol Genet, Glostrup, Denmark.
[Martinez, Francisco] Hosp Univ La Fe, Unitat Genet, Valencia, Spain.
[Mila, Montserrat] CIBERER, Barcelona, Spain.
RP Monk, D (reprint author), Unidad Genet Med Sistemas Genom SL, Valencia 46980, Spain.
EM dmonk@idibell.cat
RI Martinez, Francisco/A-2543-2009
OI Martinez, Francisco/0000-0002-0589-2584
FU Spanish Ministerio de Educacion y Ciencia [BFU2011-27658]; Fundacio La
Marato de TV3 [101130]; Lundbeck Foundation [R24-A2419]
FX Grant sponsor: Spanish Ministerio de Educacion y Ciencia (grant number
BFU2011-27658 to DM) and the Fundacio La Marato de TV3 (101130 to DM)
and Lundbeck Foundation (R24-A2419 to ZT).
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NR 35
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD SEP
PY 2014
VL 165
IS 6
BP 472
EP 478
DI 10.1002/ajmg.b.32250
PG 7
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AN3OF
UT WOS:000340497100003
ER
PT J
AU Rowe, G
Nevin, H
AF Rowe, Gareth
Nevin, Helen
TI Bringing 'patient voice' into psychological formulations of in-patients
with intellectual disabilities, autism spectrum disorder and severe
challenging behaviours: report of a service improvement pilot
SO BRITISH JOURNAL OF LEARNING DISABILITIES
LA English
DT Article
DE Autism; challenging behaviour; communication; learning (intellectual)
disabilities; nursing; profound and complex learning disabilities
ID MENTAL-HEALTH; INDIVIDUALS; PEOPLE; CHOICE; QUESTION; CHILDREN; QUALITY;
ADULTS; LIFE; CARE
AB This is a report of a service improvement pilot project undertaken at an inpatient autism service for adults with intellectual disabilities and severe challenging behaviours. Within the service, a key facet of the care pathway was the use of a biopsychosocial case formulation. Formulation meetings were led by psychology and involved a full multidisciplinary team and external representation. However, routine invitation of patients was not appropriate due to anxiety and complex communication difficulties. Therefore, the service was looking for alternative ways to incorporate the voices of patients into formulation. This report presents the case studies of four individual patients who were chosen because together they were indicative of the patient profile across the service. The study has demonstrated that it is possible to include patients' voices in their psychological formulation. For those with mild intellectual disabilities and mild autism spectrum disorder, this has been simple and extremely fruitful. For those with severe intellectual disability and severe autism spectrum disorder this has been more resource intensive and the results have been more tentative. Despite this, it has been demonstrated that it is possible to include the voices of all patients to some extent.
C1 [Rowe, Gareth; Nevin, Helen] Northumberland Tyne & Wear NHS Fdn Trust, Northgate Hosp, Morpeth NE61 3BP, England.
RP Rowe, G (reprint author), Northumberland Tyne & Wear NHS Fdn Trust, Northgate Hosp, Morpeth NE61 3BP, England.
EM helen.nevin@ntw.nhs.uk
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NR 53
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1354-4187
EI 1468-3156
J9 BRIT J LEARN DISABIL
JI Brit. J. Learn. Disabil.
PD SEP
PY 2014
VL 42
IS 3
BP 177
EP 184
DI 10.1111/bld.12026
PG 8
WC Education, Special
SC Education & Educational Research
GA AN4BW
UT WOS:000340533600002
ER
PT J
AU Horan, W
Pineda, J
Wynn, J
Iacoboni, M
Green, M
AF Horan, William P.
Pineda, Jaime A.
Wynn, Jonathan K.
Iacoboni, Marco
Green, Michael F.
TI Some markers of mirroring appear intact in schizophrenia: evidence from
mu suppression
SO COGNITIVE AFFECTIVE & BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE mu suppression; Schizophrenia; Mirror neuron system; Empathy
ID AUTISM SPECTRUM DISORDERS; PSYCHIATRIC RATING-SCALE; BORDERLINE
PERSONALITY-DISORDER; SOCIAL COGNITION; NEURON DYSFUNCTION; EMPATHIC
ACCURACY; IMITATION; NEUROSCIENCE; MECHANISMS; PSYCHOSIS
AB Although schizophrenia is associated with impairments in social cognition, the scope and neural correlates of these disturbances are largely unknown. In this study, we investigated whether schizophrenia patients show impaired functioning of the mirror neuron system (MNS), as indexed by electroencephalographic (EEG) mu (8-13 Hz) suppression, a hypothesized biomarker of MNS activity that is sensitive to the degree of social interaction depicted in visual stimuli. A total of 32 outpatients and 26 healthy controls completed an EEG paradigm that included six action observation or execution conditions that differed in their degrees of social interaction. Participants also completed a validated empathy questionnaire. Across both groups, we found a significant linear increase in mu suppression across the conditions involving greater levels of social engagement and interaction, but no significant group or interaction effects. Patients self-reported diminished empathic concern and perspective taking, which showed some moderate relations to mu suppression levels. Thus, the schizophrenia group showed generally intact modulation of MNS functioning at the electrophysiological level, despite self-reporting empathic disturbances. The disturbances commonly seen on self-report, performance, and neuroimaging measures of mentalizing in schizophrenia may largely reflect difficulties with higher-level inferential processes about others' emotions, rather than a basic incapacity to share in these experiences.
C1 [Horan, William P.; Wynn, Jonathan K.; Green, Michael F.] Univ Calif Los Angeles, VA Greater Angeles Healthcare Syst, Los Angeles, CA 90073 USA.
[Pineda, Jaime A.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Iacoboni, Marco] Univ Calif Los Angeles, Los Angeles, CA USA.
RP Horan, W (reprint author), Univ Calif Los Angeles, VA Greater Angeles Healthcare Syst, MIRECC 210A,Bldg 210,11301 Wilshire Blvd, Los Angeles, CA 90073 USA.
EM horan@ucla.edu
FU Abbott Laboratories; Amgen; Cypress; Lundbeck; Teva; Otsuka; Sunovion;
VA Career Development Award; NIMH [MH065707, MH43292]
FX M.F.G. reports having received consulting fees from Abbott Laboratories,
Amgen, Cypress, Lundbeck, and Teva. He has received speaking fees from
Otsuka and Sunovion. The rest of the authors report no biomedical
financial interests or potential conflicts of interest. Support for this
study came from a VA Career Development Award (to W. P. H.) and from
NIMH Grant Nos. MH065707 and MH43292 (M. F. G.). The authors thank
Amanda Bender, Michelle Dolinsky, Crystal Gibson, Cory Tripp, and
Katherine Weiner for assistance in the data collection.
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NR 68
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1530-7026
EI 1531-135X
J9 COGN AFFECT BEHAV NE
JI Cogn. Affect. Behav. Neurosci.
PD SEP
PY 2014
VL 14
IS 3
BP 1049
EP 1060
DI 10.3758/s13415-013-0245-8
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN3FT
UT WOS:000340471500013
PM 24415272
ER
PT J
AU Radell, M
Mercado, E
AF Radell, Milen L.
Mercado, Eduardo, III
TI Modeling possible effects of atypical cerebellar processing on eyeblink
conditioning in autism
SO COGNITIVE AFFECTIVE & BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE Classical conditioning; Cerebellum; Computational model; Autistic;
Interneuron; Timing
ID PARALLEL FIBER SYNAPSES; PURKINJE-CELL ACTIVITY; LONG-TERM DEPRESSION;
FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; ALZHEIMERS-DISEASE;
NEUROPSYCHIATRIC DISORDERS; FUNCTIONAL SPECIALIZATION; ASCENDING AXON;
NETWORK MODEL
AB Autism is unique among other disorders in that acquisition of conditioned eyeblink responses is enhanced in children, occurring in a fraction of the trials required for control participants. The timing of learned responses is, however, atypical. Two animal models of autism display a similar phenotype. Researchers have hypothesized that these differences in conditioning reflect cerebellar abnormalities. The present study used computer simulations of the cerebellar cortex, including inhibition by the molecular layer interneurons, to more closely examine whether atypical cerebellar processing can account for faster conditioning in individuals with autism. In particular, the effects of inhibitory levels on delay eyeblink conditioning were simulated, as were the effects of learning-related synaptic changes at either parallel fibers or ascending branch synapses from granule cells to Purkinje cells. Results from these simulations predict that whether molecular layer inhibition results in an enhancement or an impairment of acquisition, or changes in timing, may depend on (1) the sources of inhibition, (2) the levels of inhibition, and (3) the locations of learning-related changes (parallel vs. ascending branch synapses). Overall, the simulations predict that a disruption in the balance or an overall increase of inhibition within the cerebellar cortex may contribute to atypical eyeblink conditioning in children with autism and in animal models of autism.
C1 [Radell, Milen L.; Mercado, Eduardo, III] SUNY Buffalo, Dept Psychol, Buffalo, NY 14260 USA.
RP Radell, M (reprint author), SUNY Buffalo, Dept Psychol, Pk Hall, Buffalo, NY 14260 USA.
EM mlradell@buffalo.edu
FU NSF [SMA-1041755]
FX This work was supported in part by a grant to E. Mercado, from NSF grant
#SMA-1041755 to the Temporal Dynamics of Learning Center, an NSF Science
of Learning Center.
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NR 83
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1530-7026
EI 1531-135X
J9 COGN AFFECT BEHAV NE
JI Cogn. Affect. Behav. Neurosci.
PD SEP
PY 2014
VL 14
IS 3
BP 1142
EP 1164
DI 10.3758/s13415-014-0263-1
PG 23
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN3FT
UT WOS:000340471500020
PM 24590391
ER
PT J
AU Ostuzzi, G
Barbui, C
AF Ostuzzi, G.
Barbui, C.
TI Autism spectrum disorders: weighing the risk of SSRI exposure in
pregnancy
SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
LA English
DT Article
DE Autism spectrum disorders; maternal depression; pregnancy; selective
serotonin reuptake inhibitors..
ID ANTIDEPRESSANT USE
AB A possible link between prenatal exposure to the selective serotonin reuptake inhibitors (SSRIs) and development of autism spectrum disorders (ASDs), previously suggested by two case-control studies, was not confirmed by a recent cohort study that followed for 5-10 years more than 600,000 births. However, this study failed to demonstrate that SSRI exposure during pregnancy is safe in terms of child development outcomes, as an increased risk of ASDs cannot be completely ruled out. In the present article, the main strengths and weaknesses of this study are briefly analysed, including a possibility of confounding by indication.
C1 [Ostuzzi, G.; Barbui, C.] Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, I-37134 Verona, Italy.
RP Barbui, C (reprint author), Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, Piazzale LA Scuro 10, I-37134 Verona, Italy.
EM corrado.barbui@univr.it
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NR 10
TC 1
Z9 1
PU CAMBRIDGE UNIV PRESS
PI CAMBRIDGE
PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND
SN 2045-7960
EI 2045-7979
J9 EPIDEMIOL PSYCH SCI
JI Epidemiol. Psychiatr. Sci.
PD SEP
PY 2014
VL 23
IS 3
BP 231
EP 233
DI 10.1017/S2045796014000286
PG 3
WC Psychiatry
SC Psychiatry
GA AN2FR
UT WOS:000340400000005
PM 24786563
ER
PT J
AU Calderoni, S
Bellani, M
Hardan, AY
Muratori, F
Brambilla, P
AF Calderoni, S.
Bellani, M.
Hardan, A. Y.
Muratori, F.
Brambilla, P.
TI Basal ganglia and restricted and repetitive behaviours in Autism
Spectrum Disorders: current status and future perspectives
SO EPIDEMIOLOGY AND PSYCHIATRIC SCIENCES
LA English
DT Article
DE Autism spectrum disorders (ASD); basal ganglia; structural magnetic
resonance imaging (sMRI); volumes
ID CAUDATE-NUCLEUS; BRAIN ANATOMY; VOLUME; PERFORMANCE; STRIATUM; FOCUS
AB This editorial offers a concise overview of the recent structural magnetic resonance imaging studies that evaluate the basal ganglia (BG) volumes in autism spectrum disorders (ASD). The putative relationship between the repetitive or stereotyped behaviours of ASD and BG volumes is also explored, with a focus on possible translational approaches.
C1 [Calderoni, S.; Muratori, F.] IRCCS Stella Maris Fdn, Pisa, Italy.
[Bellani, M.] Univ Verona, ICBN, Dept Publ Hlth & Community Med, Sect Psychiat, I-37100 Verona, Italy.
[Bellani, M.] Univ Verona, ICBN, Sect Clin Psychol, I-37100 Verona, Italy.
[Hardan, A. Y.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Muratori, F.] Univ Pisa, Dept Clin & Expt Med, I-56100 Pisa, Italy.
[Brambilla, P.] Univ Udine, ICBN, Dept Expt & Clin Med, I-33100 Udine, Italy.
[Brambilla, P.] UDGEE, IRCCS E Medea Sci Inst, Udine, Italy.
RP Bellani, M (reprint author), Univ Verona, Dept Publ Hlth & Community Med, Sect Psychiat, Piazzale LA Scuro 10, I-37134 Verona, Italy.
EM marcella.bellani@univr.it
FU Italian Ministry of Health; Tuscany Region [GR-2010-2317873]; European
Union
FX S. C. was partly supported by the Italian Ministry of Health and by
Tuscany Region with the grant 'GR-2010-2317873'. F. M. and S. C. were
partly supported by the European Union (The MICHELANGELO Project). The
other authors received no specific grant from any funding agency,
commercial or not-for-profit sectors for this publication.
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NR 14
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI CAMBRIDGE
PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND
SN 2045-7960
EI 2045-7979
J9 EPIDEMIOL PSYCH SCI
JI Epidemiol. Psychiatr. Sci.
PD SEP
PY 2014
VL 23
IS 3
BP 235
EP 238
DI 10.1017/S2045796014000171
PG 4
WC Psychiatry
SC Psychiatry
GA AN2FR
UT WOS:000340400000006
PM 24816251
ER
PT J
AU Witmer, SE
Ferreri, SJ
AF Witmer, Sara E.
Ferreri, Summer J.
TI Alignment of Instruction, Expectations, and Accountability Testing for
Students With Autism Spectrum Disorder
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE assessment; inclusion; instruction
ID OBJECTIVE DATA SOURCES; TEST ACCOMMODATIONS; TEACHER JUDGMENTS;
DISABILITIES; PARTICIPATION; PERFORMANCE; MATHEMATICS; STANDARDS;
MODERATE; CHILDREN
AB Current large-scale assessment and accountability policies in the United States emphasize the need for all students to be appropriately included. However, there are many challenges to effective inclusion. Students with autism spectrum disorder (ASD) exhibit unique social communication and behavior challenges that can hinder their effective inclusion in instruction and testing. However, no studies have systematically examined how this unique group of students is currently included in accountability programs. A statewide representative sample of 191 teachers selected a student with ASD and reported on (a) the extent to which the student received instruction according to the general curriculum, (b) the teacher's academic expectations for the student, and (c) the method by which the student participated in accountability testing. Results indicated that many students were reported to rarely receive instruction according to the general curriculum, and many were reported to participate in an alternate assessment.
C1 [Witmer, Sara E.; Ferreri, Summer J.] Michigan State Univ, E Lansing, MI 48824 USA.
RP Witmer, SE (reprint author), Michigan State Univ, 620 Farm Lane,Rm 434, E Lansing, MI 48824 USA.
EM sbolt@msu.edu
CR Agran M, 2002, EDUC TRAIN MENT RET, V37, P123
Altman J., 2008, 70 U MINN NAT CTR ED
Browder D. M., 2011, TEACHING STUDENTS MO
Browder DM, 2012, J SPEC EDUC, V46, P26, DOI 10.1177/0022466910369942
Carr-George C, 2009, BEHAV DISORDERS, V35, P66
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SRI International, 2003, SPEC ED EL LONG STUD
Taylor M. F., 2012, AUSTRALASIAN J SPECI, V36, P97
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U.S. Department of Education, 2002, NO CHILD LEFT ACT 20
Weston T., 1999, ANN M AM ED RES ASS
Ysseldyke J. E., 1994, 13 U MINN NAT CTR ED
NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 131
EP 144
DI 10.1177/1088357614522294
PG 14
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100001
ER
PT J
AU Ehrenreich-May, J
Storch, EA
Queen, AH
Rodriguez, JH
Ghilain, CS
Alessandri, M
Lewin, AB
Arnold, EB
Murphy, TK
Lin, CE
Fujii, C
Renno, P
Piacentini, J
Laugeson, E
Wood, JJ
AF Ehrenreich-May, Jill
Storch, Eric A.
Queen, Alexander H.
Rodriguez, Juventino Hernandez
Ghilain, Christine S.
Alessandri, Michael
Lewin, Adam B.
Arnold, Elysse B.
Murphy, Tanya K.
Lin, C. Enjey
Fujii, Cori
Renno, Patricia
Piacentini, John
Laugeson, Elizabeth
Wood, Jeffrey J.
TI An Open Trial of Cognitive-Behavioral Therapy for Anxiety Disorders in
Adolescents With Autism Spectrum Disorders
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; anxiety; comorbid conditions; evidence-based
practices
ID PERVASIVE DEVELOPMENTAL DISORDERS; OBSESSIVE-COMPULSIVE DISORDER;
RANDOMIZED CONTROLLED-TRIAL; ASPERGER-SYNDROME; PSYCHOSOCIAL TREATMENTS;
INTERVIEW SCHEDULE; DSM-IV; CHILDHOOD ANXIETY; PARENT VERSION; CHILDREN
AB The frequent co-occurrence of anxiety disorders and autism spectrum disorders (ASD) in youth has spurred study of intervention practices for this population. As anxiety disorders in the absence of ASD are effectively treated using cognitive-behavioral therapy (CBT) protocols, an initial step in evaluating treatments for comorbid youth has necessarily centered on adaptation of CBT. One primary limitation of this research, to date, is that interventions for adolescents with anxiety disorders and ASD have not been systematically tested. In this study, 20 adolescents (90% male) with ASD and a comorbid anxiety disorder, between ages 11 and 14 years (M = 12.2 years, SD = 1.11 years), participated in an open trial of modified CBT targeting anxiety with ASD. Findings demonstrated significant reductions in anxiety severity, as assessed by clinician and parent ratings, from baseline to post-treatment. In addition, reductions in parent-rated externalizing symptoms were observed. Gains were maintained at a 1-month follow-up.
C1 Univ Miami, Coral Gables, FL 33146 USA.
[Ehrenreich-May, Jill; Queen, Alexander H.; Ghilain, Christine S.; Alessandri, Michael] Univ S Florida, Tampa, FL USA.
[Storch, Eric A.; Lewin, Adam B.; Arnold, Elysse B.; Murphy, Tanya K.] Univ Arkansas, Fayetteville, AR 72701 USA.
[Rodriguez, Juventino Hernandez; Lin, C. Enjey; Fujii, Cori; Renno, Patricia; Piacentini, John; Laugeson, Elizabeth; Wood, Jeffrey J.] Univ Calif Los Angeles, Los Angeles, CA USA.
RP Ehrenreich-May, J (reprint author), Univ Miami, Dept Psychol, 5665 Ponce de Leon Blvd,Room 315, Coral Gables, FL 33146 USA.
EM j.ehrenreich@miami.edu
CR Achenbach T. M., 2001, ASEBA SCH AGE FORMS
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Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x
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NR 68
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 145
EP 155
DI 10.1177/1088357614533381
PG 11
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100002
ER
PT J
AU Bouck, EC
Savage, M
Meyer, NK
Taber-Doughty, T
Hunley, M
AF Bouck, Emily C.
Savage, Melissa
Meyer, Nancy K.
Taber-Doughty, Teresa
Hunley, Megan
TI High-Tech or Low-Tech? Comparing Self-Monitoring Systems to Increase
Task Independence for Students With Autism
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE high school; age; functional skills; independence; autism spectrum
disorders; daily living; skills; intellectual disability
ID GENERAL-EDUCATION CLASSROOM; HIGH-SCHOOL; DISABILITIES; PERFORMANCE;
CHILDREN; ADULTS; SKILLS
AB Independence is the ultimate goal for students with disabilities, including secondary students with autism. One avenue targeted for increasing independence and decreasing prompt-dependency is through self-monitoring. In this study, investigators sought to determine whether a difference exists in levels of task independence when three students with autism complete food preparation tasks while self-monitoring using a low-tech treatment (paper/pencil) and high-tech treatment (iPad). Although both interventions decreased the need for prompting thereby increasing independence, students needed less assistance when using the iPad. Students also maintained their levels of independence in food preparation following summer vacation. Social validity interviews indicated students preferred self-monitoring with the iPad over the paper/pencil.
C1 [Bouck, Emily C.; Savage, Melissa; Meyer, Nancy K.; Taber-Doughty, Teresa; Hunley, Megan] Purdue Univ, W Lafayette, IN 47907 USA.
RP Bouck, EC (reprint author), Purdue Univ, 100 N Univ St, W Lafayette, IN 47907 USA.
EM bouck@purdue.edu
CR Agran M, 2005, EDUC TRAIN DEV DISAB, V40, P3
Bouck EC, 2012, EDUC TRAIN AUTISM DE, V47, P462
Bruhn A, 2012, BEHAV DISORDERS, V38, P3
Cihak DF, 2010, EDUC TRAIN AUTISM DE, V45, P136
Dawson G, 2000, J AUTISM DEV DISORD, V30, P415, DOI 10.1023/A:1005547422749
Ganz JB, 2005, EDUC TRAIN DEV DISAB, V40, P24
Garner N., 2003, INT J INCLUSIVE EDUC, V7, P415, DOI 10.1080/1360311032000110963
Gast D., 2010, SINGLE SUBJECT RES M, P199
Gast D. L., 2010, SINGLE SUBJECT RES M, P329
Gast D. L., 2010, SINGLE SUBJECT RES M
Gulchak D., 2008, EDUC TREAT CHILD, V31, P567
Harris KR, 2005, J SPEC EDUC, V39, P145, DOI 10.1177/00224669050390030201
Holifield C, 2010, FOCUS AUTISM DEV DIS, V25, P230, DOI 10.1177/1088357610380137
Hughes C, 2002, EDUC TRAIN MENT RET, V37, P262
Hume K, 2009, J AUTISM DEV DISORD, V39, P1329, DOI 10.1007/s10803-009-0751-2
Kennedy C, 2005, SINGLE CASE DESIGNS
Kim MC, 2011, COMPUT EDUC, V56, P403, DOI 10.1016/j.compedu.2010.08.024
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Parker D, 2011, FOCUS AUTISM DEV DIS, V26, P131, DOI 10.1177/1088357610376945
Smith LE, 2012, J AM ACAD CHILD PSY, V51, P622, DOI 10.1016/j.jaac.2012.03.001
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Wehman P., 2006, LIFE CLASSROOM TRANS, P41
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White O. R., 1980, EXCEPTIONAL TEACHING
NR 28
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 156
EP 167
DI 10.1177/1088357614528797
PG 12
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100003
ER
PT J
AU Rieth, SR
Stahmer, AC
Suhrheinrich, J
Schreibman, L
Kennedy, J
Ross, B
AF Rieth, Sarah R.
Stahmer, Aubyn C.
Suhrheinrich, Jessica
Schreibman, Laura
Kennedy, Joanna
Ross, Benjamin
TI Identifying Critical Elements of Treatment: Examining the Use of Turn
Taking in Autism Intervention
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE evidence-based intervention; naturalistic behavioral intervention; turn
taking; critical elements
AB Evidence-based treatments for autism spectrum disorders (ASD) are comprised of components that identify therapist behavior necessary to implement the treatment with integrity. Some components are shared across approaches from diverse theoretical backgrounds. One component included in several interventions that has not been researched in isolation is turn taking, or the manner in which the therapist facilitates back-and-forth interaction with the child. The current study used an alternating treatments design to examine the efficacy of four types of turn taking. Six children, ages 30 to 39 months, received behavioral treatment while therapists systematically varied the nature of the turn taking component. Children's responses were behaviorally scored to examine differences based on turn condition. Consistent patterns of behavior were found across children. Results suggest that the optimal type of turn is dependent on developmental level and target skill. Implications for treatment of ASD and future research directions are discussed.
C1 [Rieth, Sarah R.; Stahmer, Aubyn C.; Suhrheinrich, Jessica] Rady Childrens Hosp, San Diego, CA 92123 USA.
[Rieth, Sarah R.; Stahmer, Aubyn C.; Suhrheinrich, Jessica; Schreibman, Laura; Kennedy, Joanna; Ross, Benjamin] Univ Calif San Diego, San Diego, CA 92103 USA.
RP Rieth, SR (reprint author), Rady Childrens Hosp, 3020 Childrens Way,MC 5033, San Diego, CA 92123 USA.
EM sreed@casrc.org
CR ALPERT CL, 1992, J EARLY INTERVENTION, V16, P31
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Greenspan S. I., 2006, INFANT EARLY CHILDHO
Harmon R. J., 2000, J AM ACAD CHILD ADOL, V39, P1327
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Hayes S. C., 1999, SCI PRACTITIONER RES
Ingersoll B, 2011, J POSIT BEHAV INTERV, V13, P109, DOI 10.1177/1098300710384507
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Koegel R. L., 1989, TEACH PIVOTAL BEHAV
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WOLF M, 1964, BEHAV RES THER, V1, P305
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NR 30
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 168
EP 179
DI 10.1177/1088357613513792
PG 12
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100004
ER
PT J
AU Wolfe, K
Slocum, TA
Kunnavatana, SS
AF Wolfe, Katie
Slocum, Timothy A.
Kunnavatana, S. Shanun
TI Promoting Behavioral Variability in Individuals With Autism Spectrum
Disorders: A Literature Review
SO FOCUS ON AUTISM AND OTHER DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism; repetitive; response diversity; response variation; variability
ID RESPONSE VARIABILITY; CHILDREN; OPERANT; REINFORCEMENT; EXTINCTION;
SCHEDULES; STUDENTS
AB Repetitive behavior is a hallmark feature of autism spectrum disorders (ASD), and can have adverse consequences related to social stigma and low rates of skill acquisition. Basic research suggests that variability, or the extent to which one response differs from previous responses, is amenable to antecedent and consequence manipulations. This article describes the concept of variability, synthesizes the findings of 14 recent studies on interventions to increase the variability of behavior in individuals with ASD, and proposes preliminary guidelines for practitioners that focus on building response repertoires, implementing contingencies to produce and maintain variability, and incorporating prompts to vary responding.
C1 [Wolfe, Katie] Univ S Carolina, Columbia, SC 29208 USA.
[Slocum, Timothy A.; Kunnavatana, S. Shanun] Utah State Univ, Logan, UT 84322 USA.
RP Wolfe, K (reprint author), Univ S Carolina, Dept Educ Studies, 820 Main St,235-B Wardlaw, Columbia, SC 29208 USA.
EM kmsnyder@mailbox.sc.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 28
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1088-3576
EI 1538-4829
J9 FOCUS AUTISM DEV DIS
JI Focus Autism Dev. Disabil.
PD SEP
PY 2014
VL 29
IS 3
BP 180
EP 190
DI 10.1177/1088357614525661
PG 11
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AN4HA
UT WOS:000340547100005
ER
PT J
AU Song, C
Zhang, HP
AF Song, Chi
Zhang, Heping
TI TARV: Tree-based Analysis of Rare Variants Identifying Risk Modifying
Variants in CTNNA2 and CNTNAP2 for Alcohol Addiction
SO GENETIC EPIDEMIOLOGY
LA English
DT Article
DE mutation; classification tree; association analysis; alcoholism
ID GENOME-WIDE ASSOCIATION; FUNCTIONAL LINEAR-MODELS; CLASSIFICATION TREES;
COMMON DISEASES; AUTISM; DISORDERS; LINKAGE; TRAITS; GENES
AB Since the development of next generation sequencing (NGS) technology, researchers have been extending their efforts on genome-wide association studies (GWAS) from common variants to rare variants to find the missing inheritance. Although various statistical methods have been proposed to analyze rare variants data, they generally face difficulties for complex disease models involving multiple genes. In this paper, we propose a tree-based analysis of rare variants (TARV) that adopts a nonparametric disease model and is capable of exploring gene-gene interactions. We found that TARV outperforms the sequence kernel association test (SKAT) in most of our simulation scenarios, and by notable margins in some cases. By applying TARV to the study of addiction: genetics and environment (SAGE) data, we successfully detected gene CTNNA2 and its 43 specific variants that increase the risk of alcoholism in women, with an odds ratio (OR) of 1.94. This gene has not been detected in the SAGE data. Post hoc literature search also supports the role of CTNNA2 as a likely risk gene for alcohol addiction. In addition, we also detected a plausible protective gene CNTNAP2, whose 97 rare variants can reduce the risk of alcoholism in women, with an OR of 0.55. These findings suggest that TARV can be effective in dissecting genetic variants for complex diseases using rare variants data. (C) 2014 Wiley Periodicals, Inc.
C1 [Song, Chi; Zhang, Heping] Yale Univ, Sch Publ Hlth, Dept Biostat, New Haven, CT 06511 USA.
RP Zhang, HP (reprint author), Yale Univ, Sch Publ Hlth, Dept Biostat, 300 George St,Suite 523, New Haven, CT 06511 USA.
EM heping.zhang@yale.edu
FU National Institute on Drug Abuse [R01 DA016750]
FX This research is supported in part by grants R01 DA016750 from the
National Institute on Drug Abuse. The dataset used for the analyses
described in this manuscript was obtained from dbGaP at
http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs0
00092.v1.p1 through dbGaP accession number phs000092.v1.p.
CR Alarcon M, 2008, AM J HUM GENET, V82, P150, DOI 10.1016/j.ajhg.2007.09.005
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NR 30
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0741-0395
EI 1098-2272
J9 GENET EPIDEMIOL
JI Genet. Epidemiol.
PD SEP
PY 2014
VL 38
IS 6
BP 552
EP 559
DI 10.1002/gepi.21843
PG 8
WC Genetics & Heredity; Public, Environmental & Occupational Health
SC Genetics & Heredity; Public, Environmental & Occupational Health
GA AN4KP
UT WOS:000340556900008
PM 25041903
ER
PT J
AU Fitzpatrick, EM
Lambert, L
Whittingham, J
Leblanc, E
AF Fitzpatrick, Elizabeth M.
Lambert, Linda
Whittingham, JoAnne
Leblanc, Emma
TI Examination of characteristics and management of children with hearing
loss and autism spectrum disorders
SO INTERNATIONAL JOURNAL OF AUDIOLOGY
LA English
DT Article
DE Hearing loss; autism spectrum disorder; hearing aids; cochlear implants
ID COCHLEAR IMPLANTS; IMPAIRMENT; DIAGNOSIS; AGE; DEAFNESS; DISABILITIES;
TODDLERS; OUTCOMES; REGIONS; CANADA
AB Objective: Up to 40% of children with hearing loss present with other developmental disabilities. The purpose of this study was to document the prevalence of autism spectrum disorders (ASD) in children with permanent hearing loss, to describe the audiologic characteristics, and to examine clinical management. Design: Prospective data related to clinical characteristics of children identified with hearing loss and ASD were examined. A retrospective chart review was also conducted to explore clinical management and uptake of amplification. Study sample: The study included all children in one Canadian region identified with permanent hearing loss and followed from 2002-2010. Results: Of a total of 785 children with permanent hearing loss, 2.2% (n = 17) also received a diagnosis of ASD. The 13 boys and 4 girls presented with a range of audiologic profiles from unilateral to profound bilateral hearing loss. Four of five children with unilateral hearing loss experienced progression to bilateral loss. Amplification was recommended for all but one child and 9 of 16 children continued to use their hearing devices. Conclusions: The higher prevalence rate of ASD in this clinical population is consistent with previous reports. Our findings suggest that some children with autism can derive benefits from the use of amplification.
C1 [Fitzpatrick, Elizabeth M.] Univ Ottawa, Fac Hlth Sci, Ottawa, ON K1H 8M5, Canada.
[Fitzpatrick, Elizabeth M.; Whittingham, JoAnne] Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada.
[Lambert, Linda] Ctr Sante & Serv Sociaux Alphonse Desjardins, Levis, PQ, Canada.
[Leblanc, Emma] Northwestern Univ, Dept Audiol, Chicago, IL 60611 USA.
RP Fitzpatrick, EM (reprint author), Univ Ottawa, Fac Hlth Sci, Ottawa, ON K1H 8M5, Canada.
EM elizabeth.fitzpatrick@uottawa.ca
FU Canadian Institutes of Health New Investigator Award; Canadian Child
Health Clinician Scientist Program Award
FX This research was funded by a Canadian Institutes of Health New
Investigator Award and a Canadian Child Health Clinician Scientist
Program Award to the first author. We are grateful to the clinicians at
the Children's Hospital of Eastern Ontario for their contributions of
clinical data and for their collaboration throughout this study. We
thank Viviane Grandpierre for assistance with updating the literature.
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NR 46
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1499-2027
EI 1708-8186
J9 INT J AUDIOL
JI Int. J. Audiol.
PD SEP
PY 2014
VL 53
IS 9
BP 577
EP 586
DI 10.3109/14992027.2014.903338
PG 10
WC Audiology & Speech-Language Pathology; Otorhinolaryngology
SC Audiology & Speech-Language Pathology; Otorhinolaryngology
GA AN3AM
UT WOS:000340457200001
PM 24832530
ER
PT J
AU Fredo, ARJ
Kavitha, G
Ramakrishnan, S
AF Fredo, A. R. Jac
Kavitha, G.
Ramakrishnan, S.
TI Segmentation and Analysis of Brain Subcortical Regions Using Regularized
Multiphase Level Set in Autistic MRImages
SO INTERNATIONAL JOURNAL OF IMAGING SYSTEMS AND TECHNOLOGY
LA English
DT Article
DE autism; subcortical regions; multiphase level set; fuzzy c-means
cluster; intelligent quotient values
ID IMAGE SEGMENTATION; ACTIVE CONTOURS; CHILDREN; MRI; VOLUMES; MODEL
AB In this work, subcortical regions of autistic magnetic resonance brain images are analyzed using multiphase level set method. The images considered in this work are obtained from autism brain image data exchange database. The subcortical regions such as corpus callosum, cerebellum, and brain stem are segmented from the cortical region using Fuzzy c-means (FCM)-based multiphase level set method. FCM with three cluster center is used as the intensity discriminator and the evolution of the level set curve is regularized by a distance function. The results show that the multiphase level set method is able to segment the desired subcortical regions. The results are validated with the ground truth images. The average similarity values are found to be 0.85. The segmented subcortical regions of autistic have reduced tissue area and are distinct from the controls (p<0.0001). Further, it is observed that the subcortical area gives comparable results with clinical intelligent quotient values and is able to discriminate the controls and autistic subjects. As the feature area extracted from brain subcortical regions are significant, this study seems to be clinically helpful in mass screening of autistic subjects. (C) 2014 Wiley Periodicals, Inc.
C1 [Fredo, A. R. Jac; Kavitha, G.] Anna Univ, Dept Elect Engn, Madras 600025, Tamil Nadu, India.
[Ramakrishnan, S.] Indian Inst Technol Madras, Dept Appl Mech, Biomed Engn Grp, Noninvas Imaging & Diagnost Lab, Madras, Tamil Nadu, India.
RP Fredo, ARJ (reprint author), Anna Univ, Dept Elect Engn, MIT Campus, Madras 600025, Tamil Nadu, India.
EM jack247029@gmail.com
FU University Grant Commission under the scheme Maulana Azad National
Fellowship for Minority students [F1-17.1/2011/MANF-CHRTAM-1826]
FX Grant sponsors: The first author Jac Fredo A. R. is receiving fellowship
from University Grant Commission under the scheme Maulana Azad National
Fellowship for Minority students (F1-17.1/2011/MANF-CHRTAM-1826) for his
research work.
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NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0899-9457
EI 1098-1098
J9 INT J IMAG SYST TECH
JI Int. J. Imaging Syst. Technol.
PD SEP
PY 2014
VL 24
IS 3
BP 256
EP 262
DI 10.1002/ima.22101
PG 7
WC Engineering, Electrical & Electronic; Optics; Imaging Science &
Photographic Technology
SC Engineering; Optics; Imaging Science & Photographic Technology
GA AN3NI
UT WOS:000340494700007
ER
PT J
AU Goddard, L
Dritschel, B
Howlin, P
AF Goddard, Lorna
Dritschel, Barbara
Howlin, Patricia
TI A Preliminary Study of Gender Differences in Autobiographical Memory in
Children with an Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autobiographical memory; Gender; Autism spectrum disorder
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EPISODIC MEMORY;
SEX-DIFFERENCES; ADULTS; SELF; DEPRESSION; RETRIEVAL; CONSTRUCTION;
INDIVIDUALS
AB Autobiographical memory was assessed in 24 children (12 male, 12 female, aged between 8 and 16 years) with autism spectrum disorder (ASD) and a comparison group of 24 typically developing (TD) children matched for age, IQ, gender and receptive language. Results suggested that a deficit in specific memory retrieval in the ASD group was more characteristic of male participants. Females in both the TD and ASD groups generated more detailed and emotional memories than males. They also demonstrated superior verbal fluency scores; verbal fluency and autobiographical memory cueing task performance were significantly positively correlated in females. Results are discussed in light of recent research suggesting gender differences in the phenotype of ASD.
C1 [Goddard, Lorna] Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England.
[Dritschel, Barbara] Univ St Andrews, Dept Psychol, St Andrews KY16 9AJ, Fife, Scotland.
[Howlin, Patricia] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
RP Goddard, L (reprint author), Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England.
EM l.goddard@gold.ac.uk
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NR 53
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2087
EP 2095
DI 10.1007/s10803-014-2109-7
PG 9
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400001
PM 24777286
ER
PT J
AU Camargo, SPH
Rispoli, M
Ganz, J
Hong, ER
Davis, H
Mason, R
AF Hoeher Camargo, Siglia Pimentel
Rispoli, Mandy
Ganz, Jennifer
Hong, Ee Rea
Davis, Heather
Mason, Rose
TI A Review of the Quality of Behaviorally-Based Intervention Research to
Improve Social Interaction Skills of Children with ASD in Inclusive
Settings
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Social skills; Behavioral interventions; Inclusive education;
Single-case research; Quality analysis
ID AUTISM SPECTRUM DISORDERS; SINGLE-SUBJECT RESEARCH; SCRIPT-FADING
PROCEDURE; SPECIAL-EDUCATION; DEVELOPMENTAL-DISABILITIES;
YOUNG-CHILDREN; SCHOOL SETTINGS; COMMUNICATION INTERVENTIONS;
LEARNING-DISABILITIES; STUDENTS
AB Students with autism spectrum disorders (ASDs) often have difficulties in social interaction skills, which may prevent their successful inclusion in general education placements. Behaviorally-based social skills interventions have been shown to be effective in attenuating such difficulties in these environments. In light of the increasing number of children with ASD being educated in inclusive settings and requirements for the use of research-based interventions in schools, this paper (1) analyzes the quality of single-case research using behaviorally-based interventions to improve social interaction skills of children with ASD in inclusive settings and (2) evaluates whether such interventions can be considered an evidence-based practice. Characteristics and components of the interventions are summarized, and their implications for practice and future research are discussed.
C1 [Hoeher Camargo, Siglia Pimentel; Rispoli, Mandy; Ganz, Jennifer; Hong, Ee Rea; Davis, Heather; Mason, Rose] Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA.
RP Camargo, SPH (reprint author), Univ Fed Pelotas, Fac Educ, Rua Alberto Rosa 154, BR-96010770 Pelotas, RS, Brazil.
EM sigliahoher@yahoo.com.br; mrispoli@tamu.edu; jeniganz@tamu.edu;
ghdeerea@neo.tamu.edu; heatherstepdavis@gmail.com;
rosemason519@gmail.com
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NR 107
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2096
EP 2116
DI 10.1007/s10803-014-2060-7
PG 21
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400002
PM 24781498
ER
PT J
AU Joshi, G
Faraone, SV
Wozniak, J
Petty, C
Fried, R
Galdo, M
Furtak, SL
McDermott, K
Epstien, C
Walker, R
Caron, A
Feinberg, L
Biederman, J
AF Joshi, Gagan
Faraone, Stephen V.
Wozniak, Janet
Petty, Carter
Fried, Ronna
Galdo, Maribel
Furtak, Stephannie L.
McDermott, Katie
Epstien, Cecily
Walker, Rosemary
Caron, Ashley
Feinberg, Leah
Biederman, Joseph
TI Examining the Clinical Correlates of Autism Spectrum Disorder in Youth
by Ascertainment Source
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Psychiatric comorbidity; Youth
ID PERVASIVE DEVELOPMENTAL DISORDERS; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ASPERGER-SYNDROME; PSYCHIATRIC
COMORBIDITY; REFERRED POPULATION; GLOBAL ASSESSMENT; BIPOLAR DISORDER;
ANXIETY SYMPTOMS; YOUNG-ADULTS
AB To examine whether presentation of autism spectrum disorder (ASD) and associated patterns of psychiatric comorbidity and dysfunction vary by referral source. ASD youth referred to a specialized ambulatory program for ASD (N = 143) were compared to ASD youth referred to a general child psychiatry clinic (N = 217). More ASD clinic youth met criteria for a more robust form of ASD (autistic disorder); more youth referred to the psychiatry clinic met criteria for broader spectrum ASD (pervasive developmental disorder not otherwise specified). General psychiatry clinic youth with ASD suffered from a greater burden of psychopathologies and higher levels of dysfunction. The presentation of ASD in psychiatrically referred youth differs between general and ASD-specialized clinics, though both referral populations have high levels of comorbidity and dysfunction.
C1 [Joshi, Gagan; Wozniak, Janet; Petty, Carter; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L.; McDermott, Katie; Epstien, Cecily; Walker, Rosemary; Caron, Ashley; Feinberg, Leah; Biederman, Joseph] Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, Boston, MA 02114 USA.
[Joshi, Gagan; Wozniak, Janet; Fried, Ronna; Biederman, Joseph] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
RP Joshi, G (reprint author), Massachusetts Gen Hosp, Clin & Res Program Pediat Psychopharmacol, 55 Fruit St,YAW 6A, Boston, MA 02114 USA.
EM joshi.gagan@mgh.harvard.edu
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2117
EP 2126
DI 10.1007/s10803-014-2063-4
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400003
PM 24566937
ER
PT J
AU Sun, X
Allison, C
Auyeung, B
Matthews, FE
Sharp, SJ
Baron-Cohen, S
Brayne, C
AF Sun, Xiang
Allison, Carrie
Auyeung, Bonnie
Matthews, Fiona E.
Sharp, Stephen J.
Baron-Cohen, Simon
Brayne, Carol
TI The Mandarin Childhood Autism Spectrum Test (CAST): Sex Differences
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Social behaviours; Communication; Sex differences; China
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; CHILDREN; QUOTIENT; PREVALENCE; ADULTS; POPULATION;
UK; PSYCHOPATHOLOGY
AB Sex differences in social and communication behaviours related to autism spectrum conditions (ASC) have been investigated mainly in Western populations. Little research has been done in Chinese populations. This study explored sex differences related to ASC characteristics by examining differences in item responses and score distributions in relation to a screening instrument, the Childhood Autism Spectrum Test (CAST), used with Chinese children. A Mandarin Chinese version of the CAST (M-CAST) was distributed to 737 children aged 6-11 years in mainstream schools in Beijing. Questionnaires from 682 (93 %) children were available for analysis. The median score for boys was higher than for girls [boys, median = 8 (IQR 6, 11); girls, median = 7 (IQR 4, 9); p < 0.001]. There were differences in the proportions of boys and girls across all three score groups (a parts per thousand currency sign11, 12-14, a parts per thousand yen15) with more boys being found in the higher score groups (p = 0.035). This finding provides evidence that boys and girls have different social and communication development profiles, consistent with previous findings in Western cultures. These results suggest that sex differences related to ASC are consistent across cultures.
C1 [Sun, Xiang; Brayne, Carol] Univ Cambridge, Sch Clin Med, Cambridge Inst Publ Hlth, Cambridge CB2 0SR, England.
[Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Sun, Xiang] Chinese Univ Hong Kong, Jockey Club Sch Publ Hlth & Primary Care, Prince Wales Hosp, Shatin, Hong Kong, Peoples R China.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Matthews, Fiona E.] Univ Cambridge, MRC Biostat Unit, Cambridge Inst Publ Hlth, Cambridge CB2 0SR, England.
[Sharp, Stephen J.] Univ Cambridge, MRC Epidemiol Unit, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England.
RP Sun, X (reprint author), Univ Cambridge, Sch Clin Med, Cambridge Inst Publ Hlth, Forvie Site,Cambridge Biomed Campus, Cambridge CB2 0SR, England.
EM xs227@medschl.cam.ac.uk
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NR 50
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2137
EP 2146
DI 10.1007/s10803-014-2088-8
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400005
PM 24756542
ER
PT J
AU Larson, JCG
Suchy, Y
AF Larson, Jennifer C. Gidley
Suchy, Yana
TI Does Language Guide Behavior in Children with Autism?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Self-directed speech; Motor sequence learning; Motor control
ID SCALE-ELECTRONIC VERSION; HIGH-FUNCTIONING AUTISM; TURN-TAPTAP TASK;
INNER SPEECH USE; SPECTRUM DISORDERS; WORKING-MEMORY; DYSCONTROL SCALE;
EXECUTIVE DYSFUNCTION; DIAGNOSTIC INTERVIEW; MOTOR
AB It is unknown if children with high-functioning autism (HFA) employ self-directed speech to guide motor sequencing and motor control, or if they can benefit from using self-directed speech when prompted to do so. Participants performed a three-movement sequence across three conditions: Natural Learning, Task-Congruent Verbalization (TCV), and Task-Incongruent Verbalization (TIV). TIV deleteriously impacted performance in the typically-developing group (n = 22), and not the HFA group (n = 21). TCV improved performance in both groups, but to a greater extent in the HFA group. These findings suggest that children with HFA do not initiate self-directed speech spontaneously, but can use language to guide behavior when prompted to do so.
C1 [Larson, Jennifer C. Gidley] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21231 USA.
[Larson, Jennifer C. Gidley; Suchy, Yana] Univ Utah, Dept Psychol, Salt Lake City, UT 84112 USA.
RP Larson, JCG (reprint author), Kennedy Krieger Inst, Dept Neuropsychol, 1750 E Fairmount Ave, Baltimore, MD 21231 USA.
EM jen.gidleylarson@gmail.com; yana.suchy@utah.edu
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NR 90
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2147
EP 2161
DI 10.1007/s10803-014-2089-7
PG 15
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400006
ER
PT J
AU Bottema-Beutel, K
Yoder, PJ
Hochman, JM
Watson, LR
AF Bottema-Beutel, Kristen
Yoder, Paul J.
Hochman, Julia M.
Watson, Linda R.
TI The Role of Supported Joint Engagement and Parent Utterances in Language
and Social Communication Development in Children with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Parent-child interaction; Social
communication; Language
ID YOUNG-CHILDREN; 2ND YEAR; ATTENTION; PREDICTORS; PLAY; RESPONSIVENESS;
BEHAVIORS; IMITATION; LIFE
AB This study examined associations between three parent-child engagement states and social communication, expressive language, and receptive language at 8 month follow-up, in 63 preschool-age children with autism spectrum disorder. We extend the literature on supported joint engagement by dividing this state into higher order (HSJE) and lower order types, with HSJE involving greater reciprocity in toy play. We also examined parents' follow-in utterances that co-occurred with each state. We found that only HSJE predicts later social communication and expressive language, while object engagement predicts receptive language. HSJE combined with follow-in utterances (HSJE+FI) predicts all three outcomes when controlling for HSJE+FI in other engagement states. When controlling for total HSJE, HSJE+FI is predictive of receptive language.
C1 [Bottema-Beutel, Kristen] Boston Coll, Lynch Sch Educ, Chestnut Hill, MA 02467 USA.
[Yoder, Paul J.; Hochman, Julia M.] Vanderbilt Univ, Dept Special Educ, Peabody Coll, Nashville, TN 37203 USA.
[Watson, Linda R.] Univ N Carolina, Div Speech & Hearing Sci, Chapel Hill, NC 27599 USA.
RP Bottema-Beutel, K (reprint author), Boston Coll, Lynch Sch Educ, 140 Commonwealth Ave, Chestnut Hill, MA 02467 USA.
EM Kristen.bottema-beutel@bc.edu
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NR 44
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2162
EP 2174
DI 10.1007/s10803-014-2092-z
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400007
PM 24658867
ER
PT J
AU Johnson, CR
Turner, K
Stewart, PA
Schmidt, B
Shui, A
Macklin, E
Reynolds, A
James, J
Johnson, SL
Courtney, PM
Hyman, SL
AF Johnson, Cynthia R.
Turner, Kylan
Stewart, Patricia A.
Schmidt, Brianne
Shui, Amy
Macklin, Eric
Reynolds, Anne
James, Jill
Johnson, Susan L.
Courtney, Patty Manning
Hyman, Susan L.
TI Relationships Between Feeding Problems, Behavioral Characteristics and
Nutritional Quality in Children with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Feeding problems; Mealtime behaviors; Nutrition
ID AUTISM SPECTRUM DISORDERS; TYPICALLY DEVELOPING-CHILDREN; PERVASIVE
DEVELOPMENTAL DISORDERS; FOOD SELECTIVITY; YOUNG-CHILDREN; MEALTIME
BEHAVIORS; REPETITIVE BEHAVIORS; SENSORY SENSITIVITY;
ASPERGERS-DISORDER; TREATMENT OUTCOMES
AB Many children with autism spectrum disorders (ASD) have co-occurring feeding problems. However, there is limited knowledge about how these feeding habits are related to other behavioral characteristics ubiqitious in ASD. In a relatively large sample of 256 children with ASD, ages 2-11, we examined the relationships between feeding and mealtime behaviors and social, communication, and cognitive levels as well repetitive and ritualistic behaviors, sensory behaviors, and externalizing and internalizing behaviors. Finally, we examined whether feeding habits were predictive of nutritional adequacy. In this sample, we found strong associations between parent reported feeding habits and (1) repetitive and ritualistic behaviors, (2) sensory features, and (3) externalizing and internalizing behavior. There was a lack of association between feeding behaviors and the social and communication deficits of ASD and cognitive levels. Increases in the degree of problematic feeding behaviors predicted decrements in nutritional adequacy.
C1 [Johnson, Cynthia R.; Turner, Kylan] Univ Pittsburgh, Autism Ctr, Sch Med, Pittsburgh, PA 15213 USA.
[Stewart, Patricia A.; Schmidt, Brianne; Hyman, Susan L.] Univ Rochester, Dept Pediat, Sch Med, Rochester, NY 14642 USA.
[Stewart, Patricia A.] Univ Rochester, Clin & Translat Sci Inst, Sch Med, Rochester, NY 14642 USA.
[Shui, Amy; Macklin, Eric] Massachusetts Gen Hosp, MGH Biostat, Boston, MA 02114 USA.
[Reynolds, Anne; Johnson, Susan L.] Univ Colorado, Aurora, CO 80045 USA.
[James, Jill] Univ Arkansas Childrens Hosp, Little Rock, AR 72202 USA.
[Courtney, Patty Manning] Cincinnati Childrens Hosp, Cincinnati, OH 45229 USA.
RP Johnson, CR (reprint author), Univ Pittsburgh, Autism Ctr, Sch Med, 3420 Fifth Ave, Pittsburgh, PA 15213 USA.
EM Cynthia.johnson@chp.edu
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NR 79
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2175
EP 2184
DI 10.1007/s10803-014-2095-9
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400008
PM 24664635
ER
PT J
AU Brown-Lavoie, SM
Viecili, MA
Weiss, JA
AF Brown-Lavoie, S. M.
Viecili, M. A.
Weiss, J. A.
TI Sexual Knowledge and Victimization in Adults with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sexual knowledge; Sexual victimization;
Asperger syndrome; Education
ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; EXPERIENCES SURVEY;
YOUNG-ADULTS; CONDOM USE; PARENTAL PERSPECTIVE; COGNITIVE PHENOTYPE;
HEALTH KNOWLEDGE; COLLEGE-STUDENTS; BEHAVIOR
AB There is a significant gap in understanding the risk of sexual victimization in individuals with autism spectrum disorders (ASD) and the variables that contribute to risk. Age appropriate sexual interest, limited sexual knowledge and experiences, and social deficits, may place adults with ASD at increased risk. Ninety-five adults with ASD and 117 adults without ASD completed questionnaires regarding sexual knowledge sources, actual knowledge, perceived knowledge, and sexual victimization. Individuals with ASD obtained less of their sexual knowledge from social sources, more sexual knowledge from non-social sources, had less perceived and actual knowledge, and experienced more sexual victimization than controls. The increased risk of victimization by individuals with ASD was partially mediated by their actual knowledge. The link between knowledge and victimization has important clinical implications for interventions.
C1 [Brown-Lavoie, S. M.; Viecili, M. A.; Weiss, J. A.] York Univ, Dept Psychol, Toronto, ON M3J 1P3, Canada.
RP Weiss, JA (reprint author), York Univ, Dept Psychol, 4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM jonweiss@yorku.ca
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NR 58
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2185
EP 2196
DI 10.1007/s10803-014-2093-y
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400009
PM 24664634
ER
PT J
AU Koegel, RL
Kim, S
Koegel, LK
AF Koegel, Robert L.
Kim, Sunny
Koegel, Lynn Kern
TI Training Paraprofessionals to Improve Socialization in Students with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Paraprofessional; Training; Autism; Socialization; School
ID INCLUSIVE SETTINGS; SPECIAL-EDUCATION; SCHOOL SETTINGS; AUTISM;
CHILDREN; DISABILITIES; PEERS; PARAEDUCATORS; CLASSROOMS; INTERESTS
AB An important line of research relates to whether school personnel, such as paraprofessionals, who are present during unstructured social periods, such as lunch-recess, could successfully implement interventions to improve socialization between students with ASD and their typical peers in a group setting. Therefore, within the context of a multiple baseline across participants design, we assessed whether training paraprofessionals to provide social interventions would enhance social development in students with ASD in a group setting. Results showed that paraprofessionals who were not providing any social opportunities during baseline were able to meet fidelity of implementation following a brief training. Consequently, the children with ASD increased their levels of engagement and rates of initiation with typically developing peers following intervention. Implications for training paraprofessionals to implement effective social interventions for students with ASD are discussed.
C1 [Koegel, Robert L.; Kim, Sunny; Koegel, Lynn Kern] Univ Calif Santa Barbara, Grad Sch Educ, Koegel Autism Ctr, Santa Barbara, CA 93106 USA.
RP Koegel, RL (reprint author), Univ Calif Santa Barbara, Grad Sch Educ, Koegel Autism Ctr, Santa Barbara, CA 93106 USA.
EM Koegel@education.ucsb.edu
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NR 44
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2197
EP 2208
DI 10.1007/s10803-014-2094-x
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400010
PM 24671749
ER
PT J
AU Hanaie, R
Mohri, I
Kagitani-Shimono, K
Tachibana, M
Matsuzaki, J
Watanabe, Y
Fujita, N
Taniike, M
AF Hanaie, Ryuzo
Mohri, Ikuko
Kagitani-Shimono, Kuriko
Tachibana, Masaya
Matsuzaki, Junko
Watanabe, Yoshiyuki
Fujita, Norihiko
Taniike, Masako
TI Abnormal Corpus Callosum Connectivity, Socio-communicative Deficits, and
Motor Deficits in Children with Autism Spectrum Disorder: A Diffusion
Tensor Imaging Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Diffusion tensor imaging; Tractography; Corpus callosum; Autism spectrum
disorder; Motor function
ID HIGH-FUNCTIONING AUTISM; LANGUAGE-ASSOCIATION CORTEX; WHITE-MATTER
INTEGRITY; DTI TRACTOGRAPHY; BRAIN VOLUME; OPTIC-NERVE; SPINAL-CORD;
MRI; PARCELLATION; IMPAIRMENT
AB In addition to social and communicative deficits, many studies have reported motor deficits in autism spectrum disorder (ASD). This study investigated the macro and microstructural properties of the corpus callosum (CC) of 18 children with ASD and 12 typically developing controls using diffusion tensor imaging tractography. We aimed to explore whether abnormalities of the CC were related to motor deficits, as well as social and communication deficits in children with ASD. The ASD group displayed abnormal macro and microstructure of the total CC and its subdivisions and its structural properties were related to socio-communicative deficits, but not to motor deficits in ASD. These findings advance our understanding of the contributions of the CC to ASD symptoms.
C1 [Hanaie, Ryuzo; Mohri, Ikuko; Kagitani-Shimono, Kuriko; Tachibana, Masaya; Taniike, Masako] Osaka Univ, Div Dev Neurosci, United Grad Sch Child Dev, Suita, Osaka 5650871, Japan.
[Mohri, Ikuko; Matsuzaki, Junko; Taniike, Masako] Osaka Univ, Mol Res Ctr Childrens Mental Dev, United Grad Sch Child Dev, Suita, Osaka 5650871, Japan.
[Mohri, Ikuko; Kagitani-Shimono, Kuriko; Tachibana, Masaya; Taniike, Masako] Osaka Univ, Grad Sch Med, Dept Pediat, Suita, Osaka 5650871, Japan.
[Watanabe, Yoshiyuki; Fujita, Norihiko] Osaka Univ, Grad Sch Med, Dept Diagnost & Intervent Radiol, Suita, Osaka 5650871, Japan.
RP Taniike, M (reprint author), Osaka Univ, Div Dev Neurosci, United Grad Sch Child Dev, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan.
EM masako@kokoro.med.osaka-u.ac.jp
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NR 83
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2209
EP 2220
DI 10.1007/s10803-014-2096-8
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400011
PM 24710811
ER
PT J
AU Ben-Itzchak, E
Watson, LR
Zachor, DA
AF Ben-Itzchak, Esther
Watson, Linda R.
Zachor, Ditza A.
TI Cognitive Ability is Associated with Different Outcome Trajectories in
Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Early intensive behavioral intervention;
Autism severity; Adaptive skills; Cognitive ability
ID INTENSIVE BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; PREDICTORS; SCHOOL;
SEVERITY
AB Variability in clinical expression and in intervention outcome has been described in autism spectrum disorder (ASD). The study examined progress after 1 and 2 years of intervention and compared the impact of baseline cognitive ability on outcome trajectories in 46 children (m = 25.5 months) with ASD. The entire group showed a gradual decrease in autism severity and increase in verbal cognitive scores. Only the low cognitive scores (DQ < 70) group significantly improved in fine motor and receptive language scores. Significant gains in adaptive skills were found only for the high cognitive scores (DQ a parts per thousand yen70) group after 2 years of intervention. The entire group progressed with intervention, but only children with higher cognitive levels at baseline transferred their acquired socio-communication skills into daily functioning.
C1 [Ben-Itzchak, Esther] Ariel Univ, Dept Commun Disorders, IL-40700 Ariel, Israel.
[Ben-Itzchak, Esther] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Watson, Linda R.] Univ N Carolina, Sch Med, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Zachor, Ditza A.] Assaf Harofeh Med Ctr, Dept Pediat, Autism Ctr, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
RP Zachor, DA (reprint author), Assaf Harofeh Med Ctr, Dept Pediat, Autism Ctr, IL-70300 Zerifin, Israel.
EM dzachor@bezeqint.net
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 40
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2221
EP 2229
DI 10.1007/s10803-014-2091-0
PG 9
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400012
PM 24710810
ER
PT J
AU Chabani, E
Hommel, B
AF Chabani, Ellahe
Hommel, Bernhard
TI Visuospatial Processing in Children with Autism: No Evidence for
(Training-Resistant) Abnormalities
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Visual spatial; Visualization; School based intervention; Response to
intervention; Computer based instruction
ID COMPUTER-ASSISTED-INSTRUCTION; HIGH-FUNCTIONING AUTISM; EARLY BEHAVIORAL
INTERVENTION; SUPERIOR VISUAL-SEARCH; WEAK CENTRAL COHERENCE; SPECTRUM
DISORDERS; ENHANCED DISCRIMINATION; ASPERGERS-DISORDER; LITERACY SKILLS;
FORM SIMILARITY
AB Individuals with autism spectrum disorders (ASDs) have been assumed to show evidence of abnormal visuospatial processing, which has been attributed to a failure to integrate local features into coherent global Gestalts and/or to a bias towards local processing. As the available data are based on baseline performance only, which does not provide insight into cognitive/neural plasticity and actual cognitive potential, we investigated how training-resistant possible visuospatial processing differences between children with and without ASD are. In particular, we studied the effect of computerized versus face-to-face visuospatial training in a group of normally intelligent children with ASD and typically developing children as control. Findings show that (a) children with and without ASD do not differ much in visuospatial processing (as assessed by a tangram-like task) and the few differences we observed were all eliminated by training; (b) training can improve visuospatial processing (equally) in both children with ASD and normally developing children; and (c) computer-based and face-to-face training was equally effective.
C1 [Chabani, Ellahe; Hommel, Bernhard] Leiden Univ, Inst Psychol, Leiden, Netherlands.
[Hommel, Bernhard] Leiden Univ, Cognit Psychol Unit, NL-2333 AK Leiden, Netherlands.
RP Chabani, E (reprint author), Leiden Univ, Inst Psychol, Leiden, Netherlands.
EM echabani@gmail.com; hommel@fsw.leidenuniv.nl
RI Hommel, Bernhard /F-8173-2010
OI Hommel, Bernhard /0000-0003-4731-5125
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NR 98
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2230
EP 2243
DI 10.1007/s10803-014-2107-9
PG 14
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400013
PM 24696376
ER
PT J
AU Laugeson, EA
Ellingsen, R
Sanderson, J
Tucci, L
Bates, S
AF Laugeson, Elizabeth A.
Ellingsen, Ruth
Sanderson, Jennifer
Tucci, Lara
Bates, Shannon
TI The ABC's of Teaching Social Skills to Adolescents with Autism Spectrum
Disorder in the Classroom: The UCLA PEERS (R) Program
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social skills; Autism spectrum disorder; PEERS; Friendship; Adolescents;
School
ID RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING AUTISM; INTERVENTION
RESEARCH; SPECIAL-EDUCATION; CHILDREN; SCHOOL; STUDENTS; METAANALYSIS;
FRIENDSHIPS; 1ST-GRADE
AB Social skills training is a common treatment method for adolescents with autism spectrum disorder (ASD), yet very few evidence-based interventions exist to improve social skills for high-functioning adolescents on the spectrum, and even fewer studies have examined the effectiveness of teaching social skills in the classroom. This study examines change in social functioning for adolescents with high-functioning ASD following the implementation of a school-based, teacher-facilitated social skills intervention known as Program for the Education and Enrichment of Relational Skills (PEERS (A (R)) ). Seventy-three middle school students with ASD along with their parents and teachers participated in the study. Participants were assigned to the PEERS (A (R)) treatment condition or an alternative social skills curriculum. Instruction was provided daily by classroom teachers and teacher aides for 14-weeks. Results reveal that in comparison to an active treatment control group, participants in the PEERS (A (R)) treatment group significantly improved in social functioning in the areas of teacher-reported social responsiveness, social communication, social motivation, social awareness, and decreased autistic mannerisms, with a trend toward improved social cognition on the Social Responsiveness Scale. Adolescent self-reports indicate significant improvement in social skills knowledge and frequency of hosted and invited get-togethers with friends, and parent-reports suggest a decrease in teen social anxiety on the Social Anxiety Scale at a trend level. This research represents one of the few teacher-facilitated treatment intervention studies demonstrating effectiveness in improving the social skills of adolescents with ASD in the classroom: arguably the most natural social setting of all.
C1 [Laugeson, Elizabeth A.; Ellingsen, Ruth; Tucci, Lara; Bates, Shannon] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Laugeson, Elizabeth A.; Tucci, Lara] UCLA Autism Res Alliance, Help Grp, Sherman Oaks, CA 91401 USA.
[Ellingsen, Ruth] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Sanderson, Jennifer] Florida Atlantic Univ, Ctr Autism & Related Disabil, Boca Raton, FL 33431 USA.
RP Laugeson, EA (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Ste 48-243B, Los Angeles, CA 90024 USA.
EM elaugeson@mednet.ucla.edu
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NR 52
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2244
EP 2256
DI 10.1007/s10803-014-2108-8
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400014
PM 24715256
ER
PT J
AU Wood, JJ
Fujii, C
Renno, P
Van Dyke, M
AF Wood, Jeffrey J.
Fujii, Cori
Renno, Patricia
Van Dyke, Marilyn
TI Impact of Cognitive Behavioral Therapy on Observed Autism Symptom
Severity During School Recess: A Preliminary Randomized, Controlled
Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive behavioral therapy; Autism spectrum disorders; School-aged
children; School observations
ID HIGH-FUNCTIONING AUTISM; TREATING ANXIETY DISORDERS; LONG-TERM-MEMORY;
SPECTRUM DISORDERS; ASPERGER-SYNDROME; SOCIAL-SKILLS; CLINICAL-TRIAL;
CHILDREN; INTERVENTION; SERVICES
AB This study compared cognitive behavioral therapy (CBT) and treatment-as-usual (TAU) in terms of effects on observed social communication-related autism symptom severity during unstructured play time at school for children with autism spectrum disorders (ASD). Thirteen children with ASD (7-11 years old) were randomly assigned to 32 sessions of CBT or community-based psychosocial treatment (TAU) for 16 weeks. The CBT program is based on the memory retrieval competition model and emphasizes the development of perspective-taking through guided behavioral experimentation supplemented with reflective Socratic discussion and supported by parent training and school consultation to promote generalization of social communication and emotion regulation skills. Trained observers blind to treatment condition observed each child during recess on two separate days at baseline and again at posttreatment, using a structured behavioral observation system that generates frequency scores for observed social communication-related autism symptoms. CBT outperformed TAU at posttreatment on the frequency of self-isolation, the proportion of time spent with peers, the frequency of positive or appropriate interaction with peers, and the frequency of positive or appropriate peer responses to the target child (d effect size range 1.34-1.62). On average, children in CBT were engaged in positive or appropriate social interaction with peers in 68.6 % of observed intervals at posttreatment, compared to 25 % of intervals for children in TAU. Further investigation of this intervention modality with larger samples and follow-up assessments is warranted.
C1 [Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia; Van Dyke, Marilyn] Univ Calif Los Angeles, Dept Educ, Los Angeles, CA 90095 USA.
[Wood, Jeffrey J.] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA.
RP Wood, JJ (reprint author), Univ Calif Los Angeles, Dept Educ, Moore Hall,Box 951521, Los Angeles, CA 90095 USA.
EM jwood@gseis.ucla.edu
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2264
EP 2276
DI 10.1007/s10803-014-2097-7
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400016
PM 24671750
ER
PT J
AU Pearson, A
Marsh, L
Hamilton, A
Ropar, D
AF Pearson, Amy
Marsh, Lauren
Hamilton, Antonia
Ropar, Danielle
TI Spatial Transformations of Bodies and Objects in Adults with Autism
Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Spatial transformations; Bodies; Objects; Mental rotation; Egocentric;
Autism
ID VISUAL PERSPECTIVE-TAKING; MENTAL ROTATION; BODY; CHILDREN; PERCEPTION;
FMRI; SELF; MIND
AB Previous research into autism spectrum disorder (ASD) has shown people with autism to be impaired at visual perspective taking. However it is still unclear to what extent the spatial mechanisms underlying this ability contribute to these difficulties. In the current experiment we examine spatial transformations in adults with ASD and typical adults. Participants performed egocentric transformations and mental rotation of bodies and cars. Results indicated that participants with ASD had general perceptual differences impacting on response times across tasks. However, they also showed more specific differences in the egocentric task suggesting particular difficulty with using the self as a reference frame. These findings suggest that impaired perspective taking could be grounded in difficulty with the spatial transformation used to imagine the self in someone else's place.
C1 [Pearson, Amy; Marsh, Lauren; Hamilton, Antonia; Ropar, Danielle] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Pearson, A (reprint author), Univ Durham, Dept Psychol, Sci Labs, South Rd, Durham DH1 3LE, England.
EM amy.pearson@durham.ac.uk
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Zacks JM, 2005, SPAT COGN COMPUT, V5, P271, DOI DOI 10.1207/S15427633SCC
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Zacks JM, 2002, NEUROIMAGE, V16, P857, DOI 10.1006/nimg.2002.1129
NR 46
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2277
EP 2289
DI 10.1007/s10803-014-2098-6
PG 13
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400017
PM 24658868
ER
PT J
AU Morgan, L
Leatzow, A
Clark, S
Siller, M
AF Morgan, Lindee
Leatzow, Allison
Clark, Sarah
Siller, Michael
TI Interview Skills for Adults with Autism Spectrum Disorder: A Pilot
Randomized Controlled Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism; Adults; Randomized controlled trial; Social skills;
Intervention
ID ADAPTIVE-BEHAVIOR SCALES; HIGH-FUNCTIONING AUTISM; QUALITY-OF-LIFE;
SOCIAL-SKILLS; YOUNG-ADULTS; ASPERGERS SYNDROME; EMPLOYMENT; VINELAND;
INDIVIDUALS; ADOLESCENTS
AB The purpose of this pilot study was to evaluate the efficacy of the interview skills curriculum (ISC), a manualized 12-week group-delivered intervention for young adults with autism spectrum disorder (ASD). This intervention aims to increase social-pragmatic skills essential to a successful job interview. Twenty-eight adults (18-36 years) were randomly assigned to one of two groups: ISC or waitlist control. Results revealed that the experimental group showed larger gains in social-pragmatic skills observed during a mock job interview than the control group. Treatment effects on distal outcomes, including social adaptive behaviors and depressive symptoms were not significant, although the respective effect sizes were medium/large. Results indicate that a brief, low-intensity treatment can improve the job-interview performance of young adults with ASD.
C1 [Morgan, Lindee; Leatzow, Allison; Clark, Sarah] Florida State Univ, Autism Inst, Tallahassee, FL 32301 USA.
[Siller, Michael] CUNY Hunter Coll, New York, NY 10065 USA.
RP Morgan, L (reprint author), Florida State Univ, Autism Inst, 1940 N Monroe,Suite 72, Tallahassee, FL 32301 USA.
EM lindee.morgan@med.fsu.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnard J, 2001, IGNORED INELIGIBLE R
Carter AS, 2011, J CHILD PSYCHOL PSYC, V52, P741, DOI 10.1111/j.1469-7610.2011.02395.x
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Gantman A, 2012, J AUTISM DEV DISORD, V42, P1094, DOI 10.1007/s10803-011-1350-6
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NR 54
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2290
EP 2300
DI 10.1007/s10803-014-2100-3
PG 11
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400018
PM 24682707
ER
PT J
AU Nah, YH
Young, RL
Brewer, N
AF Nah, Yong-Hwee
Young, Robyn L.
Brewer, Neil
TI Using the Autism Detection in Early Childhood (ADEC) and Childhood
Autism Rating Scales (CARS) to Predict Long Term Outcomes in Children
with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Predictive validity; ADEC; CARS; Long term
outcomes
ID DIAGNOSTIC OBSERVATION SCHEDULE; BEHAVIOR CHECKLIST; VALIDITY; STAT; AGE
AB This study evaluated the predictive validity of the Autism Detection in Early Childhood (ADEC; Young, Autism detection in early childhood: ADEC. Australian Council of Educational Research, Camberwell, VIC 2007) and a well-established screening tool, the Childhood Autism Rating Scale (CARS; Schopler et al. The childhood autism rating scale (CARS). Western Psychological Services, Los Angeles 1988), for long term outcomes of children with ASD engaged in an early intervention program. Participants were 55 children (44 male, 11 female) aged 19-42 months (M = 33.5, SD = 5.6) at initial assessment who were followed up 2 and 6 years after their initial assessment. The ADEC and the CARS performed similarly when predicting long term outcomes such as clinical diagnostic outcome and overall adaptive functioning level. However, only the ADEC score was significantly correlated with ASD symptom severity at the 6-year follow up. Although these findings need to be replicated with additional and larger samples, this study extends our understanding of the psychometric properties of both the ADEC and the CARS.
C1 [Nah, Yong-Hwee; Young, Robyn L.; Brewer, Neil] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia.
RP Nah, YH (reprint author), Flinders Univ S Australia, Sch Psychol, POB 2100, Adelaide, SA 5001, Australia.
EM yonghwee.nah@flinders.edu.au
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Psychiatric Association, 2000, DSM4TR AM PSYCH ASS
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NR 41
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2301
EP 2310
DI 10.1007/s10803-014-2102-1
PG 10
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400019
PM 24658894
ER
PT J
AU Crais, ER
McComish, CS
Humphreys, BP
Watson, LR
Baranek, GT
Reznick, JS
Christian, RB
Earls, M
AF Crais, Elizabeth R.
McComish, Cara S.
Humphreys, Betsy P.
Watson, Linda R.
Baranek, Grace T.
Reznick, J. Steven
Christian, Rob B.
Earls, Marian
TI Pediatric Healthcare Professionals' Views on Autism Spectrum Disorder
Screening at 12-18 Months
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder (ASD); Screening; Infants; Pediatric healthcare
professionals
ID FOLLOW-UP; MODIFIED CHECKLIST; EARLY-DIAGNOSIS; YOUNG-CHILDREN; AGE;
IDENTIFICATION; TODDLERS; INTERVENTIONS; SURVEILLANCE; INFANTS
AB This study explored North Carolina pediatric healthcare professional's (PHP) perceptions of screening 12-18 month old infants for Autism Spectrum Disorder (ASD). Eight focus groups (66 PHPs) were conducted across practice settings. The purpose was to explore PHP's perspectives to: inform development of ASD screening tools and ultimately impact their use in PHP settings. PHPs reported concerns, barriers, and the need for research to support early ASD screening. Additionally, they expressed the need for: (a) clear "red flags" of ASD for 12-18 month olds; (b) socioculturally sensitive and effective screening tools; (c) effective early interventions; (d) systems to handle potential increases in referrals; and (e) continuing education. PHPs also demonstrated preferences about screening tool characteristics and processes for enhancing screening efforts.
C1 [Crais, Elizabeth R.; McComish, Cara S.; Watson, Linda R.] Univ N Carolina, Div Speech & Hearing Sci, Chapel Hill, NC 27599 USA.
[Humphreys, Betsy P.] Univ New Hampshires Inst Disabil, Durham, NH USA.
[Baranek, Grace T.] Univ N Carolina, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC 27599 USA.
[Reznick, J. Steven] Univ N Carolina, Chapel Hill, NC 27599 USA.
[Christian, Rob B.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Earls, Marian] Triad Adult & Pediat Med, Highpoint, NC USA.
RP Crais, ER (reprint author), Univ N Carolina, Div Speech & Hearing Sci, CB 7190,3126 Bondurant Hall, Chapel Hill, NC 27599 USA.
EM bcrais@med.unc.edu; gbaranek@med.unc.edu
CR Al-Qabandi M., 2011, PEDIATRICS, V128, P1
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Baranek GT, 2003, 1 YEAR INVENTORY FYI
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Centers for Disease Control and Prevention, 2012, MMWR, V61
Charman T, 2002, J CHILD PSYCHOL PSYC, V43, P289, DOI 10.1111/1469-7610.00022
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Krueger R. A., 2008, FOCUS GROUPS PRACTIC
Landa RJ, 2007, ARCH GEN PSYCHIAT, V64, P853, DOI 10.1001/archpsyc.64.7.853
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NR 64
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2311
EP 2328
DI 10.1007/s10803-014-2101-2
PG 18
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400020
PM 24700359
ER
PT J
AU Kassardjian, A
Leaf, JB
Ravid, D
Leaf, JA
Alcalay, A
Dale, S
Tsuji, K
Taubman, M
Leaf, R
McEachin, J
Oppenheim-Leaf, ML
AF Kassardjian, Alyne
Leaf, Justin B.
Ravid, Daniel
Leaf, Jeremy A.
Alcalay, Aditt
Dale, Stephanie
Tsuji, Kathleen
Taubman, Mitchell
Leaf, Ronald
McEachin, John
Oppenheim-Leaf, Misty L.
TI Comparing the Teaching Interaction Procedure to Social Stories: A
Replication Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Behavioral skills training; Social skills; Social skills groups;
Social stories; Teaching interaction procedure
ID ASPERGER-SYNDROME; AUTISM; CHILDREN; SKILLS; COMMUNICATION; DISORDER;
INCREASE; BEHAVIOR
AB This study compared the teaching interaction procedure to social stories implemented in a group setting to teach social skills to three children diagnosed with autism spectrum disorder. The researchers taught each participant one social skill with the teaching interaction procedure, one social skill with the social story procedure, and one social skill was assigned to a no intervention condition. The teaching interaction procedure consisted of didactic questions, teacher demonstration, and role-play; the social story procedure consisted of reading a book and answering comprehension questions. The researchers measured participants' performances during probes, responses to comprehension questions, and responding during role-plays. The results indicated that the teaching interaction procedure was more efficacious than the social story procedure across all three participants.
C1 [Kassardjian, Alyne; Leaf, Justin B.; Ravid, Daniel; Leaf, Jeremy A.; Alcalay, Aditt; Dale, Stephanie; Tsuji, Kathleen; Taubman, Mitchell; Leaf, Ronald; McEachin, John; Oppenheim-Leaf, Misty L.] Autism Partnership Fdn, Seal Beach, CA 90740 USA.
RP Leaf, JB (reprint author), Autism Partnership Fdn, 200 Marina Dr, Seal Beach, CA 90740 USA.
EM jblautpar@aol.com
CR Adams L., 2004, FOCUS AUTISM OTHER D, V19, P87, DOI DOI 10.1177/10883576040190020301
[Anonymous], 2009, NAT STAND PROJ ADDR
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NR 31
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2329
EP 2340
DI 10.1007/s10803-014-2103-0
PG 12
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400021
PM 24682708
ER
PT J
AU Kimhi, Y
Shoam-Kugelmas, D
Ben-Artzi, GA
Ben-Moshe, I
Bauminger-Zviely, N
AF Kimhi, Yael
Shoam-Kugelmas, Dana
Ben-Artzi, Galit Agam
Ben-Moshe, Inbal
Bauminger-Zviely, Nirit
TI Theory of Mind and Executive Function in Preschoolers with Typical
Development Versus Intellectually Able Preschoolers with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Theory of mind; Executive functions; Preschool
ID FALSE BELIEF; INHIBITORY CONTROL; INDIVIDUAL-DIFFERENCES; FUNCTION
DEFICITS; YOUNG-CHILDREN; DYSFUNCTION; LANGUAGE; ABILITY; DESIRES;
IMPAIRMENTS
AB Children with autism spectrum disorder (ASD) have difficulties in theory of mind (ToM) and executive function (EF), which may be linked because one domain (EF) affects the other (ToM). Group differences (ASD vs. typical development) were examined in both cognitive domains, as well as EF's associations and regressions with ToM. Participants included 29 intellectually able preschoolers with ASD and 30 typical preschoolers, aged 3-6 years. EF tasks included planning and cognitive shifting measures. ToM tasks included predicting and explaining affective and location false-belief tasks. The novelty of this study lies in its in-depth examination of ToM explanation abilities in ASD alongside the role of verbal abilities (VIQ). Significant group differences emerged on most EF and ToM measures, in favor of typically developing children. Overall in the study group, EF-planning skills, EF-cognitive shifting and VIQ significantly contributed to the explained variance of ToM measures. Implications are discussed regarding the social-cognitive deficit in ASD.
C1 [Kimhi, Yael; Shoam-Kugelmas, Dana; Ben-Artzi, Galit Agam; Ben-Moshe, Inbal; Bauminger-Zviely, Nirit] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Kimhi, Yael] Levinsky Coll Educ, Tel Aviv, Israel.
RP Bauminger-Zviely, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nirit.bauminger@biu.ac.il
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 65
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2341
EP 2354
DI 10.1007/s10803-014-2104-z
PG 14
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400022
PM 24696374
ER
PT J
AU Bowler, DM
Gaigg, SB
Gardiner, JM
AF Bowler, Dermot M.
Gaigg, Sebastian B.
Gardiner, John M.
TI Binding of Multiple Features in Memory by High-Functioning Adults with
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Memory; Relational binding
ID EPISODIC FUTURE THINKING; ASPERGERS-SYNDROME; RECALL; RECOGNITION;
DEFICITS; CHILDREN; CONTEXT; BRAIN
AB Diminished episodic memory and diminished use of semantic information to aid recall by individuals with autism spectrum disorder (ASD) are both thought to result from diminished relational binding of elements of complex stimuli. To test this hypothesis, we asked high-functioning adults with ASD and typical comparison participants to study grids in which some cells contained drawings of objects in non-canonical colours. Participants were told at study which features (colour, item, location) would be tested in a later memory test. In a second experiment, participants studied similar grids and were told that they would be tested on object-location or object-colour combinations. Recognition of combinations was significantly diminished in ASD, which survived covarying performance on the Color Trails Test (D'Elia et al. Color trails test. Professional manual. Psychological Assessment Resources, Lutz, 1996), a test of executive difficulties. The findings raise the possibility that medial temporal as well as frontal lobe processes are dysfunctional in ASD.
C1 [Bowler, Dermot M.; Gaigg, Sebastian B.; Gardiner, John M.] City Univ London, Dept Psychol, Autism Res Grp, London EC1V 0HB, England.
RP Bowler, DM (reprint author), City Univ London, Dept Psychol, Autism Res Grp, Northampton Sq, London EC1V 0HB, England.
EM d.m.bowler@city.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
BAUMAN M, 1985, NEUROLOGY, V35, P866
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Bowler DM, 2007, CONSCIOUS COGN, V16, P124, DOI 10.1016/j.concog.2005.12.001
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NR 35
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2355
EP 2362
DI 10.1007/s10803-014-2105-y
PG 8
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400023
PM 24696375
ER
PT J
AU Fink, E
de Rosnay, M
Wierda, M
Koot, HM
Begeer, S
AF Fink, Elian
de Rosnay, Marc
Wierda, Marlies
Koot, Hans M.
Begeer, Sander
TI Brief Report: Accuracy and Response Time for the Recognition of Facial
Emotions in a Large Sample of Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Emotion recognition; Emotion processing;
Social communication
ID INDIVIDUALS; ADOLESCENTS; DEFICITS
AB The empirical literature has presented inconsistent evidence for deficits in the recognition of basic emotion expressions in children with autism spectrum disorders (ASD), which may be due to the focus on research with relatively small sample sizes. Additionally, it is proposed that although children with ASD may correctly identify emotion expression they rely on more deliberate, more time-consuming strategies in order to accurately recognize emotion expressions when compared to typically developing children. In the current study, we examine both emotion recognition accuracy and response time in a large sample of children, and explore the moderating influence of verbal ability on these findings. The sample consisted of 86 children with ASD (M (age) = 10.65) and 114 typically developing children (M (age) = 10.32) between 7 and 13 years of age. All children completed a pre-test (emotion word-word matching), and test phase consisting of basic emotion recognition, whereby they were required to match a target emotion expression to the correct emotion word; accuracy and response time were recorded. Verbal IQ was controlled for in the analyses. We found no evidence of a systematic deficit in emotion recognition accuracy or response time for children with ASD, controlling for verbal ability. However, when controlling for children's accuracy in word-word matching, children with ASD had significantly lower emotion recognition accuracy when compared to typically developing children. The findings suggest that the social impairments observed in children with ASD are not the result of marked deficits in basic emotion recognition accuracy or longer response times. However, children with ASD may be relying on other perceptual skills (such as advanced word-word matching) to complete emotion recognition tasks at a similar level as typically developing children.
C1 [Fink, Elian; de Rosnay, Marc; Begeer, Sander] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Wierda, Marlies; Koot, Hans M.; Begeer, Sander] Vrije Univ Amsterdam, Amsterdam, Netherlands.
RP Begeer, S (reprint author), Vrije Univ Amsterdam, Amsterdam, Netherlands.
EM s.begeer@vu.nl
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bal E, 2010, J AUTISM DEV DISORD, V40, P358, DOI 10.1007/s10803-009-0884-3
BARONCOHEN S, 1993, COGNITION EMOTION, V7, P507, DOI 10.1080/02699939308409202
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Gruber C., 2007, SRS MANUAL
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Philip RCM, 2010, PSYCHOL MED, V40, P1919, DOI 10.1017/S0033291709992364
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NR 29
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2363
EP 2368
DI 10.1007/s10803-014-2084-z
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400024
PM 24634064
ER
PT J
AU Albrecht, MA
Stuart, GW
Falkmer, M
Ordqvist, A
Leung, D
Foster, JK
Falkmer, T
AF Albrecht, Matthew A.
Stuart, Geoffrey W.
Falkmer, Marita
Ordqvist, Anna
Leung, Denise
Foster, Jonathan K.
Falkmer, Torbjorn
TI Brief Report: Visual Acuity in Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Asperger syndrome; Case control study; ETDRS; High functioning autism;
Perception; Vision
ID COGNITIVE-STYLE; PERCEPTION; VISION
AB Recently, there has been heightened interest in suggestions of enhanced visual acuity in autism spectrum disorders (ASD) which was sparked by evidence that was later accepted to be methodologically flawed. However, a recent study that claimed children with ASD have enhanced visual acuity (Brosnan et al. in J Autism Dev Disord 42:2491-2497, 2012) repeated a critical methodological flaw by using an inappropriate viewing distance for a computerised acuity test, placing the findings in doubt. We examined visual acuity in 31 children with ASD and 33 controls using the 2 m 2000 Series Revised Early Treatment Diabetic Retinopathy Study chart placed at twice the conventional distance to better evaluate possible enhanced acuity. Children with ASD did not demonstrate superior acuity. The current findings strengthen the argument that reports of enhanced acuity in ASD are due to methodological flaws and challenges the reported association between visual acuity and systemising type behaviours.
C1 [Albrecht, Matthew A.; Foster, Jonathan K.] Curtin Univ, Sch Psychol & Speech Pathol, Curtin Hlth Innovat Res Inst, Perth, WA 6845, Australia.
[Stuart, Geoffrey W.] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Falkmer, Marita; Leung, Denise; Falkmer, Torbjorn] Curtin Univ, Fac Hlth Sci, Sch Occupat Therapy & Social Work, Curtin Hlth Innovat Res Inst, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, Sch Educ & Commun, CHILD Programme, Jonkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, Linkoping, Sweden.
[Ordqvist, Anna; Falkmer, Torbjorn] Cty Council, UHL, Pain & Rehabil Ctr, Linkoping, Sweden.
[Foster, Jonathan K.] Hlth Dept WA, Neurosci Unit, Perth, WA, Australia.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic, Australia.
RP Falkmer, T (reprint author), Curtin Univ, Fac Hlth Sci, Sch Occupat Therapy & Social Work, Curtin Hlth Innovat Res Inst, GPO Box U1987, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
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NR 29
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2369
EP 2374
DI 10.1007/s10803-014-2086-x
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400025
PM 24639028
ER
PT J
AU Taylor, CM
Vehorn, A
Noble, H
Weitlauf, AS
Warren, ZE
AF Taylor, Cora M.
Vehorn, Alison
Noble, Hylan
Weitlauf, Amy S.
Warren, Zachary E.
TI Brief Report: Can Metrics of Reporting Bias Enhance Early Autism
Screening Measures?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Screening; Early identification; Internal metrics
ID SPECTRUM DISORDERS; MODIFIED CHECKLIST; TODDLERS; CHILDREN; SCALE
AB The goal of the current study was to develop and pilot the utility of two simple internal response bias metrics, over-reporting and under-reporting, in terms of additive clinical value within common screening practices for early detection of autism spectrum disorder risk. Participants were caregivers and children under 36 months of age (n = 145) participating in first-time diagnostic appointments across our clinical research center due to developmental concerns. Caregivers were asked to complete the Modified Checklist for Autism in Toddlers (MCHAT) as well as a questionnaire embedding six response bias indicator questions. These questions were items that in previous clinical studies had been endorsed by an overwhelming majority of parents within clinically identified populations. Results indicated that removal of self-reports indicative of potential response bias dramatically reduced both false positives and false negatives on the MCHAT within this sample. This suggests that future work developing internal metrics of response bias may be promising in addressing limits of current screening measures and practices.
C1 [Taylor, Cora M.; Vehorn, Alison; Noble, Hylan; Weitlauf, Amy S.; Warren, Zachary E.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37235 USA.
[Weitlauf, Amy S.; Warren, Zachary E.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Warren, Zachary E.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
RP Taylor, CM (reprint author), Geisinger Hlth Syst, Autism & Dev Med Inst, 120 Hamm Dr,Suite 2A, Lewisburg, PA 17837 USA.
EM cmtaylor1@geisinger.edu
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NR 18
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD SEP
PY 2014
VL 44
IS 9
BP 2375
EP 2380
DI 10.1007/s10803-014-2099-5
PG 6
WC Psychology, Developmental
SC Psychology
GA AN4HW
UT WOS:000340549400026
PM 24682706
ER
PT J
AU Williamson, KE
Jakobson, LS
AF Williamson, Kathryn E.
Jakobson, Lorna S.
TI Social perception in children born at very low birthweight and its
relationship with social/behavioral outcomes
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Prematurity; low birthweight; autism spectrum disorder; social
perception; social cognition
ID AUTISM SPECTRUM DISORDER; EX-PRETERM INFANTS; BIOLOGICAL MOTION;
BEHAVIORAL OUTCOMES; ADOLESCENTS BORN; METAANALYSIS; POPULATION;
PREVALENCE; COGNITION; SKILLS
AB Background: Research has shown that children born very prematurely are at substantially elevated risk for social and behavioral difficulties similar to those seen in full-term children with autism spectrum disorders (ASDs). Methods: To gain insight into core deficits that may underlie these difficulties, in this study, we assessed the social perceptual skills of 8-to 11-year-old children born at very low birthweight (VLBW) (< 1,500 g) and age-matched, full-term controls, using the Child and Adolescent Social Perception Measure. We also assessed social and behavioral outcomes with two parent-report measures used in ASD screening. Results: Children in the preterm group had normal range estimated verbal IQ. However, we found that they were impaired in their ability to use nonverbal cues from moving faces and bodies, and situational cues, to correctly identify the emotions of characters depicted in videotaped social interactions. Their performance on this task was related to the number of 'autistic-like' traits they displayed. Conclusions: This research highlights links between social perceptual deficits and poor social and behavioral outcomes in children born very prematurely. The results also suggest that even those who have escaped major intellectual/language problems are at risk for social and behavioral problems that can be of clinical concern.
C1 [Williamson, Kathryn E.; Jakobson, Lorna S.] Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
RP Jakobson, LS (reprint author), Univ Manitoba, Dept Psychol, Winnipeg, MB R3T 2N2, Canada.
EM jakobson@cc.umanitoba.ca
FU University of Manitoba Graduate Fellowship; Manitoba Institute for Child
Health/Manitoba Health Research Council Studentship; Natural Sciences
and Engineering Research Council of Canada
FX This research was supported by a University of Manitoba Graduate
Fellowship and a Manitoba Institute for Child Health/Manitoba Health
Research Council Studentship to K. E. W., and by a grant from the
Natural Sciences and Engineering Research Council of Canada to L. S J.
The authors have declared that they have no competing or potential
conflicts of interest. The authors thank Joyce Magill-Evans and Cyndie
De Koning for advice regarding the scoring of the Child and Adolescent
Social Perception measure, Sarah Rigby and Lauren Galbraith for their
help with scoring; the staff of the High-Risk Newborn Follow-up Program,
and the children and parents who took part in this research.
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NR 41
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD SEP
PY 2014
VL 55
IS 9
BP 990
EP 998
DI 10.1111/jcpp.12210
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AN2JD
UT WOS:000340410000004
PM 24552579
ER
PT J
AU Kaluzna-Czaplinska, J
Zurawicz, E
Struck, W
Markuszewski, M
AF Kaluzna-Czaplinska, Joanna
Zurawicz, Ewa
Struck, Wiktoria
Markuszewski, Michal
TI Identification of organic acids as potential biomarkers in the urine of
autistic children using gas chromatography/mass spectrometry
SO JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL
AND LIFE SCIENCES
LA English
DT Article
DE Organic acids; Gas chromatography-mass spectrometry; Biomarkers; Autism;
Principal component analysis
ID BLOOD-BRAIN-BARRIER; PROPIONIC-ACID; SPECTRUM DISORDERS;
2-HYDROXYBUTYRIC ACID; CEREBROSPINAL-FLUID; DICARBOXYLIC-ACIDS;
MASS-SPECTROMETRY; SOCIAL-BEHAVIOR; ASCORBIC-ACID; SAUDI-ARABIA
AB There is a need to identify metabolic phenotypes in autism as they might each require unique approaches to prevention. Biological markers can help define autism subtypes and reveal potential therapeutic targets. The aim of the study was to identify alterations of small molecular weight compounds and to find potential biomarkers. Gas chromatography/mass spectrometry was employed to evaluate major metabolic changes in low molecular weight urine metabolites of 14 children with autism spectrum disorders vs. 10 non-autistic subjects. The results prove the usefulness of an identified set of 21 endogenous compounds (including 14 organic acids), whose levels are changed in diseased children. Gas chromatography/mass spectrometry method combined with multivariate statistical analysis techniques provide an efficient way of depicting metabolic perturbations of diseases, and may potentially be applicable as a novel strategy for the noninvasive diagnosis and treatment of autism. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Kaluzna-Czaplinska, Joanna; Zurawicz, Ewa] Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, PL-90924 Lodz, Poland.
[Struck, Wiktoria; Markuszewski, Michal] Med Univ Gdansk, Dept Biopharm & Pharmacodynam, PL-80416 Gdansk, Poland.
RP Kaluzna-Czaplinska, J (reprint author), Lodz Univ Technol, Dept Chem, Inst Gen & Ecol Chem, Zeromskiego 116, PL-90924 Lodz, Poland.
EM joanna.kaluzna-czaplinska@p.lodz.pl
RI Markuszewski, Michal/E-4768-2011
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NR 100
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1570-0232
EI 1873-376X
J9 J CHROMATOGR B
JI J. Chromatogr. B
PD SEP 1
PY 2014
VL 966
SI SI
BP 70
EP 76
DI 10.1016/j.jchromb.2014.01.041
PG 7
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AN1DP
UT WOS:000340323200008
PM 24565890
ER
PT J
AU Bostrom, PK
Broberg, M
AF Bostrom, P. K.
Broberg, M.
TI Openness and avoidance - a longitudinal study of fathers of children
with intellectual disability
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE autism; Down syndrome; father; intellectual disability; learning
disability; parents
ID DOWN-SYNDROME; PRESCHOOL-CHILDREN; DEVELOPMENTAL-DISABILITIES; EMOTIONAL
AVAILABILITY; DISABLED-CHILDREN; PARENTING STRESS; MOTHERS; AUTISM;
FAMILIES; INVOLVEMENT
AB Background Fathers' interactions with children who have intellectual disabilities (ID) or developmental delays (DD) have increased over the past few decades and may be expected to continue to increase as maternal and paternal roles, along with other gender roles, become more equal. The aim of the present study was to explore fathers' experiences of parenthood in relation to a child with ID/DD from the initial discovery of the disability to 5 years later. Methods Fathers' experiences of parenting children with ID/DD were explored in a longitudinal framework. Seven Swedish fathers of young children with ID/DD participated in a series of semi-structured interviews from 2005 to 2010, and their accounts were subjected to interpretative phenomenological analysis. Results The analysis revealed three themes: (1) An interrupted path - no longer taking things for granted, which describes the fathers' reactions to their children's diagnosis; (2) Being a good father, which describes the fathers' overall perceptions of their parenting of a child with ID/DD; and (3) Dealing with the unexpected, which describes fathers' individual ways of integrating, managing, and living with the knowledge of their child's disability over the 5 years during which fathers were interviewed. Conclusions Fathers' individual paths need to be taken into consideration when offering psychological support to families of children with ID/DD.
C1 [Bostrom, P. K.; Broberg, M.] Univ Gothenburg, Dept Psychol, S-40530 Gothenburg, Sweden.
RP Bostrom, PK (reprint author), Univ Gothenburg, Dept Psychol, Box 500, S-40530 Gothenburg, Sweden.
EM petra.bostrom@psy.gu.se
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NR 47
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD SEP
PY 2014
VL 58
IS 9
BP 810
EP 821
DI 10.1111/jir.12093
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AN2OQ
UT WOS:000340425600003
PM 24020633
ER
PT J
AU Kovacs, T
Bansagi, B
Kelemen, O
Keri, S
AF Kovacs, Tamas
Bansagi, Boglarka
Kelemen, Oguz
Keri, Szabolcs
TI Neuregulin 1-Induced AKT and ERK Phosphorylation in Patients with
Fragile X Syndrome (FXS) and Intellectual Disability Associated with
Obstetric Complications
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article
DE Fragile X syndrome; Neuregulin 1; AKT; ERK
ID MENTAL-RETARDATION PROTEIN; SIGNALING PATHWAY; MESSENGER-RNA;
SCHIZOPHRENIA; DISORDERS; EXPRESSION; FMRP; AUTISM; DYSFUNCTION;
MECHANISMS
AB Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants. Results revealed that patients with FXS displayed decreased AKT but normal ERK activation after the administration of NRG1. IQ-matched controls with intellectual disability displayed intact AKT/ERK activation. In conclusion, FXS, but not intellectual disability associated with obstetric complications, is associated with decreased NRG1-induced AKT phosphorylation.
C1 [Kovacs, Tamas; Keri, Szabolcs] Nyiro Gyula Hosp, Natl Inst Psychiat & Addict, Budapest, Hungary.
[Bansagi, Boglarka] Semmelweis Univ, Dept Pediat 2, H-1085 Budapest, Hungary.
[Kelemen, Oguz] Bacs Kiskun Cty Hosp, Ctr Psychiat, Kecskemet, Hungary.
[Keri, Szabolcs] Univ Szeged, Fac Med, Dept Physiol, H-6720 Szeged, Hungary.
[Keri, Szabolcs] Budapest Univ Technol & Econ, Dept Cognit Sci, Budapest, Hungary.
RP Keri, S (reprint author), Univ Szeged, Fac Med, Dept Physiol, Dom Sq 10, H-6720 Szeged, Hungary.
EM szkeri2000@yahoo.com
FU [TAMOP-4.2.2.A-11/1/KONV-2012-0052]
FX This study was supported by TAMOP-4.2.2.A-11/1/KONV-2012-0052.
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NR 50
TC 0
Z9 0
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0895-8696
EI 1559-1166
J9 J MOL NEUROSCI
JI J. Mol. Neurosci.
PD SEP
PY 2014
VL 54
IS 1
BP 119
EP 124
DI 10.1007/s12031-014-0257-z
PG 6
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN3GP
UT WOS:000340474200013
PM 24563264
ER
PT J
AU Cortez, MD
de Rose, JC
Miguel, CF
AF Cortez, Mariele Diniz
de Rose, Julio C.
Miguel, Caio F.
TI The Role of Correspondence Training on Children's Self-Report Accuracy
across Tasks
SO PSYCHOLOGICAL RECORD
LA English
DT Article
DE Correspondence training; Do-say correspondence; Generalization; Lying;
Self-report
ID VERBAL NONVERBAL CORRESPONDENCE; ACTIVITY SCHEDULES; INCREASING PLAY;
VERBALIZATION; BEHAVIOR; REINFORCEMENT; MAINTENANCE; THOUGHTS; AUTISM;
SAMPLE
AB This study investigated children's self-report accuracy as a function of task type and also verified generalization of do-say correspondence across tasks. Six children between 6 and 11 years of age participated in the study. "Doing" consisted of reading words, playing a computer game, solving a math problem, and labeling music-related stimuli. "Saying" consisted of reporting on the accuracy of performance following the automated computer feedback. Baseline assessed correspondence for the different tasks. Correspondence training was conducted for the task in which levels of accuracy were the lowest. Generalized do-say correspondence was then assessed in untrained tasks. For four children, correspondence was lowest for the academic tasks. Four of six children exhibited generalized correspondence after the first training, and the remaining two children did so following a second training with a different task. Distinct tasks seemed to control different patterns of self-report accuracy. Results on generalization indicated do-say correspondence as a generalized operant behavior.
C1 [Cortez, Mariele Diniz; de Rose, Julio C.] Univ Fed Sao Carlos, BR-13560 Sao Carlos, SP, Brazil.
[Cortez, Mariele Diniz; de Rose, Julio C.] Inst Nacl Ciencia & Tecnol Comportamento Cognicao, Sao Carlos, SP, Brazil.
[Miguel, Caio F.] Calif State Univ Sacramento, Sacramento, CA 95819 USA.
[de Rose, Julio C.] Dept Psicol, BR-13565905 Sao Paulo, Brazil.
RP de Rose, JC (reprint author), Dept Psicol, Rodovia Washington Luis,Km 235 SP 310, BR-13565905 Sao Paulo, Brazil.
EM juliocderose@yahoo.com.br
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NR 40
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-2933
EI 2163-3452
J9 PSYCHOL REC
JI Psychol. Rec.
PD SEP
PY 2014
VL 64
IS 3
BP 393
EP 402
DI 10.1007/s40732-014-0061-8
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AN1VS
UT WOS:000340372700005
ER
PT J
AU Perez-Gonzalez, LA
Belloso-Diaz, C
Carames-Mendez, M
Alonso-Alvarez, B
AF Antonio Perez-Gonzalez, Luis
Belloso-Diaz, Carlota
Carames-Mendez, Maria
Alonso-Alvarez, Benigno
TI Emergence of Complex Intraverbals Determined by Simpler Intraverbals
SO PSYCHOLOGICAL RECORD
LA English
DT Article
DE Intraverbals; Verbal behavior; Stimulus equivalence; Stimulus relations;
Reasoning; Answering questions; Adults
ID STIMULUS-CONTROL PROCEDURES; DEVELOPMENTAL-DISABILITIES; EMERGING
SPEECH; CHILDREN; BEHAVIOR; RESPONSES; AUTISM
AB This research explored some factors involved in the emergence of intraverbals as demonstrated by P,rez-Gonzalez, Herszlikowicz, and Williams (2008) in three experiments. Eleven adults learned to say the chemical elements corresponding to two chemical groups (the A-B relations) and to say the atomic numbers of two elements (the B-C relations). Thereafter, we probed the relations that result from combining these stimuli. For example, we asked the groups corresponding to the atomic numbers (the C-A relations). In Experiment 1, we taught A-B and B-C and probed the remaining relations without additional teaching. In Experiment 2, with Categories, participants learned to say the categories of the exemplars (i.e., "What is polonium?" -the correct answer was "an element"). In Experiment 3, with Exemplars, participants learned to say the exemplars of the categories (i.e., "Name a chemical element"; the correct answers were the two chemical elements). The Categories facilitated emergence in some but not all participants. The Exemplars was shown to be effective in promoting the emergence of the emergent relations. These results indicate that the simpler intraverbals (Categories and Exemplars) play a role in the emergence of the more complex intraverbals.
C1 [Antonio Perez-Gonzalez, Luis; Belloso-Diaz, Carlota; Carames-Mendez, Maria; Alonso-Alvarez, Benigno] Univ Oviedo, Dept Psychol, Oviedo 33003, Spain.
RP Perez-Gonzalez, LA (reprint author), Univ Oviedo, Dept Psychol, Plaza Feijoo S-N Despacho 209, Oviedo 33003, Spain.
EM laperez@uniovi.es
RI Perez-Gonzalez, Luis/L-2338-2014
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NR 37
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-2933
EI 2163-3452
J9 PSYCHOL REC
JI Psychol. Rec.
PD SEP
PY 2014
VL 64
IS 3
BP 509
EP 526
DI 10.1007/s40732-014-0047-6
PG 18
WC Psychology, Multidisciplinary
SC Psychology
GA AN1VS
UT WOS:000340372700017
ER
PT J
AU Gliga, T
Jones, EJH
Bedford, R
Charman, T
Johnson, MH
AF Gliga, T.
Jones, E. J. H.
Bedford, R.
Charman, T.
Johnson, M. H.
TI From early markers to neuro-developmental mechanisms of autism
SO DEVELOPMENTAL REVIEW
LA English
DT Article
DE Infants; Autism; The "social brain"; Sensory processing
ID SPECTRUM DISORDERS; EXECUTIVE FUNCTION; SOCIAL-PERCEPTION; JOINT
ATTENTION; YOUNG-CHILDREN; EYE-GAZE; COMMUNICATION DIFFICULTIES;
FUNCTIONAL CONNECTIVITY; ORBITOFRONTAL CORTEX; BIOLOGICAL MOTION
AB A fast growing field, the study of infants at risk because of having an older sibling with autism (i.e. infant sibs) aims to identify the earliest signs of this disorder, which would allow for earlier diagnosis and intervention. More importantly, we argue, these studies offer the opportunity to validate existing neuro-developmental models of autism against experimental evidence. Although autism is mainly seen as a disorder of social interaction and communication, emerging early markers do not exclusively reflect impairments of the "social brain". Evidence for atypical development of sensory and attentional systems highlight the need to move away from localized deficits to models suggesting brain-wide involvement in autism pathology. We discuss the implications infant sibs findings have for future work into the biology of autism and the development of interventions. (c) 2014 The Authors. Published by Elsevier Inc.
C1 [Gliga, T.; Jones, E. J. H.; Johnson, M. H.] Univ London Birkbeck Coll, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
[Bedford, R.] Kings Coll London, Inst Psychiat, Dept Biostat, London WC2R 2LS, England.
[Charman, T.] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
RP Gliga, T (reprint author), Univ London Birkbeck Coll, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England.
EM t.gliga@bbk.ac.uk
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NR 154
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0273-2297
EI 1090-2406
J9 DEV REV
JI Dev. Rev.
PD SEP
PY 2014
VL 34
IS 3
BP 189
EP 207
DI 10.1016/j.dr.2014.05.003
PG 19
WC Psychology, Developmental
SC Psychology
GA AM6OU
UT WOS:000339985300001
ER
PT J
AU Lo, YY
Burk, B
Anderson, AL
AF Lo, Ya-yu
Burk, Bradley
Anderson, Adrienne L.
TI Using Progressive Video Prompting to Teach Students with Moderate
Intellectual Disability to Shoot a Basketball
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID DAILY LIVING SKILLS; AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE;
DEVELOPMENTAL-DISABILITIES; COOKING SKILLS; INTERVENTION; INDIVIDUALS;
ADOLESCENTS; INSTRUCTION; CHILDREN
AB The current study examined the effects of a modified video prompting procedure, namely progressive video prompting, to increase technique accuracy of shooting a basketball in the school gymnasium of three 11th-grade students with moderate intellectual disability. The intervention involved participants viewing video clips of an adult model who showed progressively chucked steps for making a free throw. We used a single-case, multiple probe across participants design to evaluate the intervention effects. The results of this study showed that all three participants increased the number of steps performed correctly and maintained the skill at the 1-week and 2-week maintenance check without the video viewing. Implications for practice and future research related to video prompting variations are discussed.
C1 [Lo, Ya-yu] Univ N Carolina, Charlotte, NC 28223 USA.
[Anderson, Adrienne L.] Western Carolina Univ, Cullowhee, NC USA.
RP Lo, YY (reprint author), Univ N Carolina, Dept Special Educ & Child Dev, 9201 Univ City Blvd, Charlotte, NC 28223 USA.
EM ylo1@uncc.edu
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NR 46
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 354
EP 367
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800002
ER
PT J
AU Pennington, RC
Collins, BC
Stenhoff, DM
Turner, K
Gunselman, K
AF Pennington, Robert C.
Collins, Belva C.
Stenhoff, Donald M.
Turner, Kennedy
Gunselman, Karen
TI Using Simultaneous Prompting and Computer-Assisted Instruction to Teach
Narrative Writing Skills to Students with Autism
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID LEARNING-DISABLED STUDENTS; OF-THE-LITERATURE; NO CHILD LEFT;
DEVELOPMENTAL-DISABILITIES; ASPERGER-SYNDROME; PLANNING INSTRUCTION;
SPECTRUM DISORDERS; WRITTEN; ADOLESCENTS; PERFORMANCE
AB Despite the importance of written expression to the lives of individuals with autism spectrum disorders (ASD), there is limited research on teaching writing skills to this population. In the current study, we used a multiple probe across behaviors design to evaluate the effects of simultaneous prompting (SP) and computer-assisted instruction (CAI) on the story writing responses of five males with autism, 6 to 10 years of age. The data indicated that SP and CAI were effective in improving the story writing skills of all five participants. In addition, all participants increased non-targeted reading skills, the use of novel response forms, and demonstrated at least partial maintenance and generalization of story writing skills.
C1 [Pennington, Robert C.] Univ Louisville, Louisville, KY 40292 USA.
[Collins, Belva C.] Univ Kentucky, Lexington, KY 40506 USA.
[Stenhoff, Donald M.] Bista Autism Ctr, Phoenix, AZ USA.
[Turner, Kennedy; Gunselman, Karen] Jefferson Cty Publ Sch, Lakewood, CO USA.
RP Pennington, RC (reprint author), Univ Louisville, Coll Educ & Human Dev, Dept Special Educ, Louisville, KY 40292 USA.
EM robert.pennington@louisville.edu
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NR 49
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 396
EP 414
PG 19
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800005
ER
PT J
AU Odluyurt, S
Tekin-Iftar, E
Ersoy, G
AF Odluyurt, Serhat
Tekin-Iftar, Elif
Ersoy, Gulhan
TI Effects of School Counselor Supervised Peer Tutoring in Inclusive
Settings on Meeting IEP Outcomes of Students with Developmental
Disabilities
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID SIGHT WORDS; AUTISM; INSTRUCTION; CHILDREN; SKILLS; INDIVIDUALS;
BEHAVIORS; ADULTS; TEACH
AB The purpose of this study was to investigate the effects of school counselor supervised peer tutoring intervention on meeting IEP outcomes of six inclusion students with developmental disabilities in a public elementary and secondary school. The effectiveness of this intervention was evaluated by using multiple probe design across students. Elementary school students (3rd graders) were taught purchasing skill at school canteen and the secondary level students (7th and 8th graders) were taught first-aid skill. Three typical peers served as tutors for each student. The results showed that the school counselor successfully supervised peer tutoring intervention, the tutor reliably delivered intervention to their peers with developmental disabilities, and tutees acquired, maintained and generalized the skills on their IEPs. In addition, tutees reported positive opinions regarding the social validity of the study. Results, future research, and implications for practice are discussed.
C1 [Odluyurt, Serhat; Tekin-Iftar, Elif] Anadolu Univ, TR-26470 Eskisehir, Turkey.
[Ersoy, Gulhan] Barbaros Primary Sch, Kutahya, Turkey.
RP Tekin-Iftar, E (reprint author), Anadolu Univ, Engelliler Arastirma Enstitusu, TR-26470 Eskisehir, Turkey.
EM eltekin@anadolu.edu.tr
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NR 48
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD SEP
PY 2014
VL 49
IS 3
BP 415
EP 428
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN0XH
UT WOS:000340306800006
ER
PT J
AU Pescosolido, MF
Schwede, M
Harrison, AJ
Schmidt, M
Gamsiz, ED
Chen, WS
Donahue, JP
Shur, N
Jerskey, BA
Phornphutkul, C
Morrow, EM
AF Pescosolido, Matthew F.
Schwede, Matthew
Harrison, Ashley Johnson
Schmidt, Michael
Gamsiz, Ece D.
Chen, Wendy S.
Donahue, John P.
Shur, Natasha
Jerskey, Beth A.
Phornphutkul, Chanika
Morrow, Eric M.
TI Expansion of the clinical phenotype associated with mutations in
activity-dependent neuroprotective protein
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; GENES; ADNP
C1 [Pescosolido, Matthew F.; Schwede, Matthew; Schmidt, Michael; Gamsiz, Ece D.; Morrow, Eric M.] Dept Mol Biol Cell Biol & Biochem, Providence, RI USA.
[Pescosolido, Matthew F.] Brown Univ, Mol Med Lab, Inst Brain Sci, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Alpert Med Sch, East Providence, RI USA.
[Pescosolido, Matthew F.; Harrison, Ashley Johnson; Schmidt, Michael; Gamsiz, Ece D.; Jerskey, Beth A.; Morrow, Eric M.] Rhode Isl Consortium Autism Res & Treatment RI CA, Providence, RI USA.
[Chen, Wendy S.; Donahue, John P.] Brown Univ, Dept Surg, Alpert Med Sch, Div Ophthalmol, Providence, RI 02912 USA.
[Shur, Natasha] Albany Med Ctr, Childrens Hosp, Div Genet, Dept Pediat, Albany, NY USA.
[Phornphutkul, Chanika] Rhode Isl Hosp, Div Human Genet, Dept Pediat, Providence, RI USA.
[Phornphutkul, Chanika] Brown Univ, Providence, RI 02912 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
FU Burroughs Wellcome Fund; NIH NIGMS [P20GM103645]; Simons Foundation
(SFARI) [239834, 286756]; Nancy Lurie Marks Foundation; Brown Institute
for Brain Science (BIBS); Norman Prince Neuroscience Institute (NPNI)
FX EMM has received a Career Award in Medical Science from the Burroughs
Wellcome Fund and support from NIH NIGMS P20GM103645. This work was
supported by grants from the Simons Foundation (SFARI #239834 & #286756
to EMM) and also generous support to EMM from the Nancy Lurie Marks
Foundation. Brown Institute for Brain Science (BIBS) and Norman Prince
Neuroscience Institute (NPNI).
CR Bassan M, 1999, J NEUROCHEM, V72, P1283, DOI 10.1046/j.1471-4159.1999.0721283.x
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NR 11
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD SEP
PY 2014
VL 51
IS 9
BP 587
EP 589
DI 10.1136/jmedgenet-2014-102444
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA AN0AE
UT WOS:000340242400004
PM 25057125
ER
PT J
AU Rasmussen, MB
Nielsen, JV
Loureno, CM
Melo, JB
Halgren, C
Geraldi, CVL
MarquesJr, W
Rodrigues, GR
Thomassen, M
Bak, M
Hansen, C
Ferreira, SI
Venancio, M
Henriksen, KF
Lind-Thomsen, A
Carreira, IM
Jensen, NA
Tommerup, N
AF Rasmussen, Malene B.
Nielsen, Jakob V.
Loureno, Charles M.
Melo, Joana B.
Halgren, Christina
Geraldi, Camila V. L.
Marques, Wilson, Jr.
Rodrigues, Guilherme R.
Thomassen, Mads
Bak, Mads
Hansen, Claus
Ferreira, Susana I.
Venancio, Margarida
Henriksen, Karen F.
Lind-Thomsen, Allan
Carreira, Isabel M.
Jensen, Niels A.
Tommerup, Niels
TI Neurodevelopmental disorders associated with dosage imbalance of ZBTB20
correlate with the morbidity spectrum of ZBTB20 candidate target genes
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID 3Q13.31 MICRODELETION; DEVELOPMENTAL DELAY; PREPULSE INHIBITION; NEURON
DEVELOPMENT; AUTISM RESEARCH; DATABASE; RESOURCE; TRANSCRIPTION;
HIPPOCAMPUS; PHENOTYPE
AB Background Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome.
Methods and results We used array comparative genomic hybridization and next-generation mate-pair sequencing to identify key structural rearrangements involving ZBTB20 in two patients with NDD. In a patient with developmental delay, attention-deficit hyperactivity disorder, psychosis, Tourette's syndrome and autistic traits, a de novo balanced t(3; 18) translocation truncated ZBTB20. The other breakpoint did not disrupt any gene. In a second patient with developmental delay and autism, we detected the first microdeletion at 3q13.31, which truncated ZBTB20 but did not involve DRD3 or the other genes within the previously defined SRO. Zbtb20 directly represses 346 genes in the developing murine brain. Of the 342 human orthologous ZBTB20 candidate target genes, we found 68 associated with NDD. Using chromatin immunoprecipitation and quantitative PCR, we validated the in vivo binding of Zbtb20 in evolutionary conserved regions in six of these genes (Cntn4, Gad1, Nrxn1, Nrxn3, Scn2a, Snap25).
Conclusions Our study links dosage imbalance of ZBTB20 to a range of neurodevelopmental, cognitive and psychiatric disorders, likely mediated by dysregulation of multiple ZBTB20 target genes, and provides new knowledge on the genetic background of the NDD seen in the 3q13.31 microdeletion syndrome.
C1 [Rasmussen, Malene B.; Halgren, Christina; Bak, Mads; Hansen, Claus; Henriksen, Karen F.; Lind-Thomsen, Allan; Tommerup, Niels] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Fac Hlth Sci, DK-2200 Copenhagen N, Denmark.
[Nielsen, Jakob V.; Jensen, Niels A.] Univ Southern Denmark, Inst Mol Med, Dept Neurobiol Res, Odense C, Denmark.
[Loureno, Charles M.; Marques, Wilson, Jr.; Rodrigues, Guilherme R.] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Neurosci & Behav Sci, Neurogenet Unit, BR-14049 Ribeirao Preto, Brazil.
[Melo, Joana B.; Carreira, Isabel M.] Univ Coimbra, Lab Citogenet & Genom, Coimbra, Portugal.
[Melo, Joana B.; Carreira, Isabel M.] Univ Coimbra, CIMAGO, Fac Med, Coimbra, Portugal.
[Thomassen, Mads] Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark.
[Ferreira, Susana I.] Univ Coimbra, Fac Med, Lab Clin & Genet, Coimbra, Portugal.
[Venancio, Margarida] Ctr Hosp & Univ Coimbra, Serv Genet Med, Coimbra, Portugal.
[Venancio, Margarida] Univ Coimbra, Fac Med, Coimbra, Portugal.
RP Tommerup, N (reprint author), Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Fac Hlth Sci, Blegdamsvej 3,24-4-30, DK-2200 Copenhagen N, Denmark.
EM ntommerup@sund.ku.dk
RI Melo, Joana/K-8347-2014; Marques, Wilson/G-4240-2012
OI Melo, Joana/0000-0001-5049-2670; Marques, Wilson/0000-0002-4589-2749
FU Lundbeck Foundation; Augustinus Foundation; Aase & Ejnar Danielsen's
Foundation; Faculty of Health Sciences, University of Copenhagen
FX This study was supported by grants from the Lundbeck Foundation, the
Augustinus Foundation and Aase & Ejnar Danielsen's Foundation and from
the Faculty of Health Sciences, University of Copenhagen.
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NR 50
TC 1
Z9 1
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 0022-2593
EI 1468-6244
J9 J MED GENET
JI J. Med. Genet.
PD SEP
PY 2014
VL 51
IS 9
BP 605
EP U6613
DI 10.1136/jmedgenet-2014-102535
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AN0AE
UT WOS:000340242400007
PM 25062845
ER
PT J
AU Furlong, MA
Engel, SM
Barr, DB
Wolff, MS
AF Furlong, Melissa A.
Engel, Stephanie M.
Barr, Dana Boyd
Wolff, Mary S.
TI Prenatal exposure to organophosphate pesticides and reciprocal social
behavior in childhood
SO ENVIRONMENT INTERNATIONAL
LA English
DT Article
DE Social Responsiveness Scale; Organophosphate pesticides; Environmental
exposures; Neurodevelopment
ID NEONATAL CHLORPYRIFOS EXPOSURE; MEXICAN-AMERICAN CHILDREN; AUTISM
SPECTRUM DISORDER; IN-UTERO; SEROTONERGIC MECHANISMS; BRAIN-DEVELOPMENT;
YOUNG-CHILDREN; FETAL-GROWTH; NEURODEVELOPMENT; POPULATION
AB Prenatal exposure to organophosphate pesticides (OPs) has been associated with adverse neurodevelopmental outcomes in childhood, including low IQ pervasive developmental disorder (PDD), attention problems and ADHD. Many of these disorders involve impairments in social functioning. Thus, we investigated the relationship between biomarkers of prenatal OP exposure and impaired reciprocal social behavior in childhood, as measured by the Social Responsiveness Scale (SRS). Using a multi-ethnic urban prospective cohort of mother-infant pairs in New York City recruited between 1998 and 2002 (n = 404) we examined the relation between third trimester maternal urinary levels of dialkylphosphate (Sigma DAP) OP metabolites and SRS scores among 136 children who returned for the 7-9 year visit. Overall, there was no association between OPs and SRS scores, although in multivariate adjusted models, associations were heterogeneous by race and by sex. Among blacks, each 10-fold increase in total diethylphosphates (Sigma DEP) was associated with poorer social responsiveness (beta = 5.1 points, 95% confidence interval (CI) 0.8, 9.4). There was no association among whites or Hispanics, or for total ZDAP or total dimethylphosphate (Sigma DMP) biomarker levels. Additionally, stratum-specific models supported a stronger negative association among boys for Sigma DEPs (beta = 3.5 points, 95% CI 02, 6.8), with no notable association among girls. Our results support an association of prenatal OP exposure with deficits in social functioning among blacks and among boys, although this may be in part reflective of differences in exposure patterns. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Furlong, Melissa A.; Engel, Stephanie M.] Univ N Carolina, Dept Epidemiol, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27599 USA.
[Barr, Dana Boyd] Emory Univ, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA.
[Wolff, Mary S.] Mt Sinai Sch Med, Dept Prevent Med, New York, NY USA.
RP Furlong, MA (reprint author), Univ N Carolina, Box 7435, Chapel Hill, NC 27599 USA.
EM furlongm@med.unc.edu
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NR 47
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0160-4120
EI 1873-6750
J9 ENVIRON INT
JI Environ. Int.
PD SEP
PY 2014
VL 70
BP 125
EP 131
DI 10.1016/j.envint.2014.05.011
PG 7
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AM2PL
UT WOS:000339693200014
PM 24934853
ER
PT J
AU Tunc, B
Ghanbari, Y
Smith, AR
Pandey, J
Browne, A
Schultz, RT
Verma, R
AF Tunc, Birkan
Ghanbari, Yasser
Smith, Alex R.
Pandey, Juhi
Browne, Aaron
Schultz, Robert T.
Verma, Ragini
TI PUNCH: Population Characterization of Heterogeneity
SO NEUROIMAGE
LA English
DT Article
DE Heterogeneity; Autism Spectrum Disorders; Severity measure
ID AUTISM SPECTRUM DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; CLASSIFICATION; QUESTIONNAIRE; CHILDREN; RDOC; FRAMEWORK;
CRITERIA; MACHINE
AB Neuropsychiatric disorders are notoriously heterogeneous in their presentation, which precludes straightforward and objective description of the differences between affected and typical populations that therefore makes finding reliable biomarkers a challenge. This difficulty underlines the need for reliable methods to capture sample characteristics of heterogeneity using a single continuous measure, incorporating the multitude of score used to describe different aspects of functioning. This study addresses this challenge by proposing a gener method of identifying and quantifying the heterogeneity of any clinical population using a severity meastn, called the PUNCH (Population Characterization of Heterogeneity). PUNCH is a decision level fusion techniquc to incorporate decisions of various phenotypic scores, while providing interpretable weights for scores. We provide applications of our framework to simulated datasets and to a large sample of youth with Autism Spectrun Disorder (ASD). Next we stratify PUNCH scores in our ASD sample and show how severity moderates findings o group differences in diffusion weighted brain imaging data; more severely affected subgroups of ASD sho) expanded differences compared to age and gender matched healthy controls. Results demonstrate the abilit of our measure in quantifying the underlying heterogeneity of the clinical samples, and suggest its utility in providing researchers with reliable severity assessments incorporating population heterogeneity. (C) 2014 Elsevier Inc. All rights reserved
C1 [Tunc, Birkan; Ghanbari, Yasser; Smith, Alex R.; Verma, Ragini] Univ Penn, Perelman Sch Med, Dept Radiol, Ctr Biomed Image Comp & Analyt, Philadelphia, PA 19104 USA.
[Pandey, Juhi; Browne, Aaron; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Schultz, Robert T.] Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA.
[Schultz, Robert T.] Univ Penn, Perelman Sch Med, Dept Psychiat, Philadelphia, PA 19104 USA.
RP Verma, R (reprint author), Sect Biomed Image Anal, 3600 Market St,Suite 380, Philadelphia, PA 19104 USA.
EM Ragini.Verma@uphs.upenn.edu
FU National Institutes of Health [NIMH 1RC1MH088791, R01-MH092862,
R21-MH098010, P30-HD026979]; Pennsylvania Department of Health (SAP)
[4100042728, 4100047863]
FX This research was supported by grants from National Institutes of Health
(NIMH 1RC1MH088791 to Robert T. Schultz, P30-HD026979 to M. Yudkoff, and
R01-MH092862 and R21-MH098010 to Ragini Verma) and grants from the
Pennsylvania Department of Health (SAP # 4100042728 and SAP #4100047863
to Robert T. Schultz).
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NR 47
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD SEP
PY 2014
VL 98
BP 50
EP 60
DI 10.1016/j.neuroimage.2014.04.068
PG 11
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM2UQ
UT WOS:000339706700006
PM 24799135
ER
PT J
AU Meaux, E
Taylor, MJ
Pang, EW
Vara, AS
Batty, M
AF Meaux, Emilie
Taylor, Margot J.
Pang, Elizabeth W.
Vara, Anjili S.
Batty, Magali
TI Neural Substrates of Numerosity Estimation in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE numerosity estimation; local and global perception; autism; MEG
ID MENTAL NUMBER LINE; POSTERIOR PARIETAL CORTEX; PRIMATE PREFRONTAL
CORTEX; HIGH-FUNCTIONING AUTISM; VOXEL-BASED MORPHOMETRY; VISUAL
WORKING-MEMORY; MEDIAL TEMPORAL-LOBE; INTRAPARIETAL SULCUS;
ELECTROPHYSIOLOGICAL EVIDENCE; PERCEIVED NUMEROSITY
AB Visual skills, including numerosity estimation are reported to be superior in autism spectrum disorders (ASD). This phenomenon is attributed to individuals with ASD processing local features, rather than the Gestalt. We examined the neural correlates of numerosity estimation in adults with and without ASD, to disentangle perceptual atypicalities from numerosity processing. Fourteen adults with ASD and matched typically developed (TD) controls estimated the number of dots (80-150) arranged either randomly (local information) or in meaningful patterns (global information) while brain activity was recorded with magnetoencephalography (MEG). Behavioral results showed no significant group difference in the errors of estimation. However, numerical estimation in ASD was more variable across numerosities than TD and was not affected by the global arrangement of the dots. At 80-120 ms, MEG analyses revealed early significant differences (TD>ASD) in source amplitudes in visual areas, followed from 120 to 400 ms by group differences in temporal, and then parietal regions. After 400 ms, a source was found in the superior frontal gyrus in TD only. Activation in temporal areas was differently sensitive to the global arrangement of dots in TD and ASD. MEG data show that individuals with autism exhibit widespread functional abnormalities. Differences in temporal regions could be linked to atypical global perception. Occipital followed by parietal and frontal differences might be driven by abnormalities in the processing and conversion of visual input into a number-selective neural code and complex cognitive decisional stages. These results suggest overlapping atypicalities in sensory, perceptual and number-related processing during numerosity estimation in ASD. Hum Brain Mapp 35:4362-4385, 2014. (C) 2014 Wiley Periodicals, Inc.
C1 [Meaux, Emilie] Univ Med Ctr, Dept Neurosci & Clin Neurol, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
[Taylor, Margot J.; Vara, Anjili S.] Univ Toronto, Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5S 1A1, Canada.
[Taylor, Margot J.; Vara, Anjili S.] Univ Toronto, Dept Psychol & Med Imaging, Toronto, ON M5S 1A1, Canada.
[Pang, Elizabeth W.] Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON M5S 1A1, Canada.
[Batty, Magali] Univ Tours, CHRU Tours, Ctr Pedopsychiat, INSERM,U930,UMR Imagerie & Cerveau, F-37000 Tours, France.
RP Meaux, E (reprint author), Univ Med Ctr, Dept Neurosci & Clin Neurol, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
EM Emilie.Meaux@unige.ch
FU CIHR [MOP-81161]; SickKids Hospital of Toronto; Planiol Fundation;
BRIDGE Fellowship of the Marie Curie Foundation
FX Contract grant sponsor: CIHR; Contract grant number: MOP-81161; Contract
grant sponsor: SickKids Hospital of Toronto; Contract grant sponsor:
Planiol Fundation; Contract grant sponsor: BRIDGE Fellowship of the
Marie Curie Foundation
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NR 209
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD SEP
PY 2014
VL 35
IS 9
BP 4362
EP 4385
DI 10.1002/hbm.22480
PG 24
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM0VZ
UT WOS:000339567000008
PM 24639374
ER
PT J
AU Romano, D
Nicolau, M
Quintin, EM
Mazaika, PK
Lightbody, AA
Hazlett, HC
Piven, J
Carlsson, G
Reiss, AL
AF Romano, David
Nicolau, Monica
Quintin, Eve-Marie
Mazaika, Paul K.
Lightbody, Amy A.
Hazlett, Heather Cody
Piven, Joseph
Carlsson, Gunnar
Reiss, Allan L.
TI Topological Methods Reveal High and Low Functioning Neuro-Phenotypes
Within Fragile X Syndrome
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism spectrum behavior; MRI; topological data analysis; multivariate
pattern analysis; voxel-based morphometry
ID IMAGE-ANALYSIS; AUTISM; BOYS; DISORDERS; THRESHOLD; SPECTRUM
AB Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability as well as the most common single-gene risk factor for autism. Our goal was to examine variation in brain structure in FXS with topological data analysis (TDA), and to assess how such variation is associated with measures of IQ and autism-related behaviors. To this end, we analyzed imaging and behavioral data from young boys (n = 52; aged 1.57-4.15 years) diagnosed with FXS. Application of topological methods to structural MRI data revealed two large subgroups within the study population. Comparison of these subgroups showed significant between-subgroup neuroanatomical differences similar to those previously reported to distinguish children with FXS from typically developing controls (e. g., enlarged caudate). In addition to neuroanatomy, the groups showed significant differences in IQ and autism severity scores. These results suggest that despite arising from a single gene mutation, FXS may encompass two biologically, and clinically separable phenotypes. In addition, these findings underscore the potential of TDA as a powerful tool in the search for biological phenotypes of neuropsychiatric disorders. (C) 2014 Wiley Periodicals, Inc.
C1 [Romano, David; Quintin, Eve-Marie; Mazaika, Paul K.; Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Sch Med, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Nicolau, Monica; Carlsson, Gunnar] Stanford Univ, Dept Math, Stanford, CA 94305 USA.
[Hazlett, Heather Cody; Piven, Joseph] UNC, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
RP Romano, D (reprint author), Stanford Univ, 401 Quarry Rd,Rm 1356,MC 5795, Stanford, CA 94305 USA.
EM dromano@stanford.edu
FU National Institute of Mental Health [R01MH050047, R01MH064708,
R01MH064580, MH061696, 5T32MH019908]; National Institute of Child Health
and Human Development [P30HD003110]; Canel Family Fund
FX Contract grant sponsor: National Institute of Mental Health; Contract
grant numbers: R01MH050047, R01MH064708, R01MH064580; MH061696,
5T32MH019908; Contract grant sponsor: National Institute of Child Health
and Human Development; Contract grant number: P30HD003110; Contract
grant sponsor: the Canel Family Fund.
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NR 26
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD SEP
PY 2014
VL 35
IS 9
BP 4904
EP 4915
DI 10.1002/hbm.22521
PG 12
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM0VZ
UT WOS:000339567000048
PM 24737721
ER
PT J
AU de Rosnay, M
Fink, E
Begeer, S
Slaughter, V
Peterson, C
AF de Rosnay, Marc
Fink, Elian
Begeer, Sander
Slaughter, Virginia
Peterson, Candida
TI Talking theory of mind talk: young school-aged children's everyday
conversation and understanding of mind and emotion
SO JOURNAL OF CHILD LANGUAGE
LA English
DT Article
ID FALSE-BELIEF; INDIVIDUAL-DIFFERENCES; AUTISM-SPECTRUM; LANGUAGE;
BEHAVIOR; DEAFNESS; METAANALYSIS; TEMPERAMENT; SKILLS
AB Links between young children's everyday use of mindful conversational skills and their success on laboratory tests of theory of mind understanding (ToM) were evaluated. Using published scales, teachers rated the conversational behavior and shyness of 129 children aged 60 to 101 months (M=78.8 months) who were in their first years of primary school. The children also took batteries of first-and second-order false-belief tests along with tests of emotion understanding and general language ability. Correlational and regression analyses showed that performance on false-belief tests of ToM significantly predicted children's competence at reading others' minds in their everyday conversational interactions. Furthermore, these links transcended individual differences in language ability, shy personality, emotion understanding, and age. These findings augment and extend a growing body of evidence linking performance on laboratory ToM tests to socially competent real-world behavior.
C1 [de Rosnay, Marc; Fink, Elian; Begeer, Sander] Univ Sydney, Sydney, NSW 2006, Australia.
[Begeer, Sander] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Slaughter, Virginia; Peterson, Candida] Univ Queensland, Brisbane, Qld 4072, Australia.
RP Peterson, C (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
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NR 37
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0305-0009
EI 1469-7602
J9 J CHILD LANG
JI J. Child Lang.
PD SEP
PY 2014
VL 41
IS 5
BP 1179
EP 1193
DI 10.1017/S0305000913000433
PG 15
WC Psychology, Developmental; Linguistics; Psychology, Experimental
SC Psychology; Linguistics
GA AM0PR
UT WOS:000339548200009
PM 24229511
ER
PT J
AU Pedersen, L
Parlar, S
Kvist, K
Whiteley, P
Shattock, P
AF Pedersen, Lennart
Parlar, Sarah
Kvist, Kajsa
Whiteley, Paul
Shattock, Paul
TI Data mining the ScanBrit study of a gluten- and casein-free dietary
intervention for children with autism spectrum disorders: Behavioural
and psychometric measures of dietary response
SO NUTRITIONAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Dietary intervention; Gluten; Casein
ID URINARY INDOLYL-3-ACRYLOYLGLYCINE; RISK; MUTATIONS
AB We previously reported results based on the examination of a gluten- and casein-free diet as an intervention for children diagnosed with an autism spectrum disorder as part of the ScanBrit collaboration. Analysis based on grouped results indicated several significant differences between dietary and non-dietary participants across various core and peripheral areas of functioning. Results also indicated some disparity in individual responses to dietary modification potentially indicative of responder and non-responder differences. Further examination of the behavioural and psychometric data garnered from participants was undertaken, with a view to determining potential factors pertinent to response to dietary intervention. Participants with clinically significant scores indicative of inattention and hyperactivity behaviours and who had a significant positive changes to said scores were defined as responders to the dietary intervention. Analyses indicated several factors to be potentially pertinent to a positive response to dietary intervention in terms of symptom presentation. Chronological age was found to be the strongest predictor of response, where those participants aged between 7 and 9 years seemed to derive most benefit from dietary intervention. Further analysis based on the criteria for original study inclusion on the presence of the urine compound, trans-indolyl-3-acryloylglycine may also merit further investigation. These preliminary observations on potential best responder characteristics to a gluten-and casein-free diet for children with autism require independent replication.
C1 [Pedersen, Lennart; Parlar, Sarah] Ctr Autisme, DK-2730 Herlev, Denmark.
[Kvist, Kajsa] PFA Pens, DK-2100 Copenhagen, Denmark.
[Whiteley, Paul; Shattock, Paul] ESPA Res, BIC, Unit 133i, Sunderland SR5 2TA, England.
RP Pedersen, L (reprint author), Ctr Autisme, Herlev Hovedgade 199, DK-2730 Herlev, Denmark.
EM lpe@centerforautisme.dk
FU Center for Autisme; Nils O. Seim Family Fund for Medical Research; Eric
Birger Christensen Fond; Norwegian Protein Intolerance Association;
Robert Luff Foundation; Glashofs Legat
FX The authors thank all the parents who gave their time and permission for
their children to take part in this difficult study. We owe a huge debt
of thanks to Maureen Pilvang and Jonna Deibjerg who provided nutritional
advice and support to parents and Charlotte Mathiesen who provided
administrative support. The study was supported by grants from the
Center for Autisme, the Nils O. Seim Family Fund for Medical Research,
the Eric Birger Christensen Fond, the Norwegian Protein Intolerance
Association, The Robert Luff Foundation and Glashofs Legat.
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NR 26
TC 1
Z9 1
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 1028-415X
EI 1476-8305
J9 NUTR NEUROSCI
JI Nutr. Neurosci.
PD SEP
PY 2014
VL 17
IS 5
BP 207
EP 213
DI 10.1179/1476830513Y.0000000082
PG 7
WC Neurosciences; Nutrition & Dietetics
SC Neurosciences & Neurology; Nutrition & Dietetics
GA AL1DI
UT WOS:000338865600002
PM 24075141
ER
PT J
AU Bernard, PB
Castano, AM
Bayer, KU
Benke, TA
AF Bernard, Paul B.
Castano, Anna M.
Bayer, K. Ulrich
Benke, Tim A.
TI Necessary, but not sufficient: Insights into the mechanisms of mGluR
mediated long-term depression from a rat model of early life seizures
SO NEUROPHARMACOLOGY
LA English
DT Article
DE Early life seizure; Long-term depression; Metabotropic glutamate
receptor; CaMKII; Voltage-gated calcium channels; Autism
ID FRAGILE-X-SYNDROME; METABOTROPIC GLUTAMATE RECEPTORS; MENTAL-RETARDATION
PROTEIN; SIGNALING PATHWAY; MOUSE MODEL; SYNAPTIC PLASTICITY; CAMKII
AUTONOMY; KINASE; PHOSPHORYLATION; POTENTIATION
AB Using the rat model of early life seizures (ELS), which has exaggerated mGluR mediated long-term depression of synaptic strength (mGluR-LTD) in adulthood, we probed the signaling cascades underlying mGluR-LTD induction. Several inhibitors completely blocked mGluR-LTD in control but not in ELS rats: the proteasome, the mammalian target of rapamycin (mTOR), S6 kinase (S6K), or L-type voltage-gated calcium channels (L-type VGCC). Inhibition of the Ca2+/calmodulin-dependent protein kinase II (CaMKII) resulted in a near complete block of mGluR-LTD in control rats and a slight reduction of mGluR-LTD in ELS rats. "Autonomous" CaMKII was found to be upregulated in ELS rats, while elevated S6K activity, which is stimulated by mTOR, was described previously. Thus, modulation of each of these factors was necessary for mGluR-LTD induction in control rats, but even their combined, permanent activation in the ELS rats was not sufficient to individually support mGluR-LTD induction following ELS. This implies that while these factors may act sequentially in controls to mediate mGluR-LTD, this is no longer the case after ELS. In contrast, activated ERK was found to be significantly down-regulated in ELS rats. Inhibition of MEK/ERK activation in control rats elevated mGluR-LTD to the exaggerated levels seen in ELS rats. Together, these results elucidate both the mechanisms that persistently enhance mGluR-LTD after ELS and the mechanisms underlying normal mGluR-LTD by providing evidence for multiple, convergent pathways that mediate mGluR-LTD induction. With our prior work, this ties these signaling cascades to the ELS behavioral phenotype that includes abnormal working memory, fear conditioning and socialization. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bernard, Paul B.; Castano, Anna M.; Benke, Tim A.] Univ Colorado, Sch Med, Dept Pediat, Denver, CO 80045 USA.
[Bayer, K. Ulrich; Benke, Tim A.] Univ Colorado, Sch Med, Neurosci Grad Program, Denver, CO 80045 USA.
[Benke, Tim A.] Univ Colorado, Sch Med, Dept Neurol, Denver, CO 80045 USA.
[Bayer, K. Ulrich; Benke, Tim A.] Univ Colorado, Sch Med, Dept Pharmacol, Denver, CO 80045 USA.
[Benke, Tim A.] Univ Colorado, Sch Med, Dept Otolaiyngol, Denver, CO 80045 USA.
RP Benke, TA (reprint author), Univ Colorado, Sch Med, Dept Pediat, 12800 E 19th,MS8102, Denver, CO 80045 USA.
EM tim.benke@ucdenver.edu
FU Children's Hospital Colorado Research Institute; Epilepsy Foundation;
National Institutes of Health [R01 NS076577, R01 NS081248]
FX Special thanks to Drs. Heather O'Leary, Mark Dell'Acqua, Steve Coultrap
and other members of the Benke, Bayer and Dell'Acqua labs and the
Neuroscience Program Machine Shop Core. Funding provided by the
Children's Hospital Colorado Research Institute, Epilepsy Foundation,
and National Institutes of Health grants R01 NS076577 (to T.B.) and R01
NS081248 (to K.U.B.). The content is solely the responsibility of the
authors and does not necessarily represent the official views of NINDS
or NIH.
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NR 56
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3908
EI 1873-7064
J9 NEUROPHARMACOLOGY
JI Neuropharmacology
PD SEP
PY 2014
VL 84
SI SI
BP 1
EP 12
DI 10.1016/j.neuropharm.2014.04.011
PG 12
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AK7OC
UT WOS:000338616600001
PM 24780380
ER
PT J
AU Lin, CY
Chang, YM
AF Lin, Chien-Yu
Chang, Yu-Ming
TI Increase in physical activities in kindergarten children with cerebral
palsy by employing MaKey-MaKey-based task systems
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Interaction; Cerebral palsy; MaKey MaKey; Conductive materials;
Single-case design
ID DESIGNATED OCCUPATIONAL ACTIVITIES; ENVIRONMENTAL STIMULATION; ASSISTING
PEOPLE; DISABILITIES; REHABILITATION; EXERCISE; LIFE; AUTISM; ADULTS
AB In this study, we employed Flash- and Scratch-based multimedia by using a MaKey-MaKey-based task system to increase the motivation level of children with cerebral palsy to perform physical activities. MaKey MaKey is a circuit board that converts physical touch to a digital signal, which is interpreted by a computer as a keyboard message. In this study, we used conductive materials to control this interaction. This study followed single-case design using ABAB models in which A indicated the baseline and B indicated the intervention. The experiment period comprised 1 month and a half. The experimental results demonstrated that in the case of two kindergarten children with cerebral palsy, their scores were considerably increased during the intervention phrases. The developmental applications of the results are also discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lin, Chien-Yu] Natl Univ Tainan, Dept Special Educ, Tainan 700, Taiwan.
[Chang, Yu-Ming] Southern Taiwan Univ Sci & Technol, Coll Digital Design, Tainan 710, Taiwan.
RP Lin, CY (reprint author), Natl Univ Tainan, Dept Special Educ, 33,Sect 2,Shu Lin St, Tainan 700, Taiwan.
EM linchienyu@mail.nutn.edu.tw
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NR 36
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 1963
EP 1969
DI 10.1016/j.ridd.2014.04.028
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200005
PM 24864049
ER
PT J
AU Visser, EM
Berger, HJC
Prins, JB
Lantman-De Valk, HMJV
Teunisse, JP
AF Visser, E. M.
Berger, H. J. C.
Prins, J. B.
Lantman-De Valk, H. M. J. Van Schrojenstein
Teunisse, J. P.
TI Shifting impairment and aggression in intellectual disability and Autism
Spectrum Disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Cognitive shifting; Aggression; Autism; Intellectual disability
ID BEHAVIOR RATING INVENTORY; CARD SORTING TEST; CHALLENGING BEHAVIOR;
EXECUTIVE FUNCTION; PHYSICAL AGGRESSION; NEUROPSYCHOLOGICAL TESTS; TOTAL
POPULATION; RISK MARKERS; YOUNG-ADULTS; CHILDREN
AB Aggressive behaviour is a major problem in individuals with an intellectual disability (ID)as well as in individuals with an Autism Spectrum Disorder (ASD). There are indications that suggest a link between cognitive shifting and aggression. In this study, reports of aggressive incidents of adolescents and young adults with different clinical diagnoses (ID, ID + ASD, ASD) were collected during 1 year, using the Staff Observation Aggression Scale-Revised. Whether they were diagnosed with ID, ASD or both; individuals who displayed aggression were found to face more cognitive shifting difficulties than non-aggressive individuals, while no significant differences were found on severity of ASD symptoms. Study results support the assumption that a cognition-based model for aggression may be more adequate than a diagnose-based model. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Visser, E. M.; Berger, H. J. C.; Prins, J. B.; Teunisse, J. P.] Radboud Univ Nijmegen, Med Ctr, Dept Med Psychol, NL-6500 HB Nijmegen, Netherlands.
[Lantman-De Valk, H. M. J. Van Schrojenstein] Radboud Univ Nijmegen, Med Ctr, Dept Primary & Community Hlth Care, NL-6500 HB Nijmegen, Netherlands.
[Teunisse, J. P.] Dr Leo Kannerhuis, Ctr Autism, Dept Res & Dev, NL-6865 ZH Doorwerth, Netherlands.
[Teunisse, J. P.] HAN Univ Appl Sci, Res Grp Autism Lifespan, NL-6503 GL Nijmegen, Netherlands.
RP Teunisse, JP (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Med Psychol, POB 9101, NL-6500 HB Nijmegen, Netherlands.
EM jp.teunisse@leokannerhuis.nl
RI Schrojenstein Lantman-de Valk, H.M.J./H-8087-2014
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NR 80
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2137
EP 2147
DI 10.1016/j.ridd.2014.04.021
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200023
PM 24881008
ER
PT J
AU Lancioni, GE
Singh, NN
O'Reilly, MF
Sigafoos, J
Alberti, G
Perilli, V
Oliva, D
Buono, S
AF Lancioni, Giulio E.
Singh, Nirbhay N.
O'Reilly, Mark F.
Sigafoos, Jeff
Alberti, Gloria
Perilli, Viviana
Oliva, Doretta
Buono, Serafino
TI Microswitch-aided programs to support physical exercise or adequate
ambulation in persons with multiple disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Microswitch-aided programs; Head movements; Arms movements; Ambulation;
Toe walking; Multiple disabilities
ID PROFOUND INTELLECTUAL DISABILITIES; AUTISM SPECTRUM DISORDERS;
IDIOPATHIC TOE WALKING; DEVELOPMENTAL-DISABILITIES; SELF-DETERMINATION;
SOCIAL VALIDATION; ENVIRONMENTAL STIMULATION; ASSISTING PEOPLE;
CHILDREN; ADULTS
AB Three microswitch-aided programs were assessed in three single-case studies to enhance physical exercise or ambulation in participants with multiple disabilities. Study I was aimed at helping a woman who tended to have the head bending forward and the arms down to exercise a combination of appropriate head and arms movements. Study II was aimed at promoting ambulation continuity with a man who tended to have ambulation breaks. Study III was aimed at promoting ambulation with appropriate foot position in a girl who usually showed toe walking. The experimental designs of the studies consisted of a multiple probe across responses (Study I), an ABAB sequence (Study II), and an ABABB(1) sequence (Study III). The last phase of each study was followed by a post-intervention check. The microswitches monitored the target responses selected for the participants and triggered a computer system to provide preferred stimuli contingent on those responses during the intervention phases of the studies. Data showed that the programs were effective with each of the participants who learned to exercise head and arms movements, increased ambulation continuity, and acquired high levels of appropriate foot position during ambulation, respectively. The positive performance levels were retained during the post-intervention checks. The discussion focused on (a) the potential of technology-aided programs for persons with multiple disabilities and (b) the need of replication studies to extend the evidence available in the area. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lancioni, Giulio E.] Univ Bari, I-70100 Bari, Italy.
[Singh, Nirbhay N.] Georgia Regents Univ, Med Coll Georgia, Augusta, GA USA.
[O'Reilly, Mark F.] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Alberti, Gloria; Perilli, Viviana; Oliva, Doretta] Lega F DOro Res Ctr, Osimo, Italy.
[Alberti, Gloria; Perilli, Viviana; Oliva, Doretta] Lega F DOro Res Ctr, Lesmo, Italy.
[Buono, Serafino] IRCCS Oasi Troina, Troina Enna, Italy.
RP Lancioni, GE (reprint author), Univ Bari, Dept Neurosci & Sense Organs, Via Quintino Sella 268, I-70100 Bari, Italy.
EM giulio.lancioni@uniba.it
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NR 66
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2190
EP 2198
DI 10.1016/j.ridd.2014.05.015
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200028
PM 24915648
ER
PT J
AU Cantwell, J
Muldoon, OT
Gallagher, S
AF Cantwell, Joanne
Muldoon, Orla T.
Gallagher, Stephen
TI Social support and mastery influence the association between stress and
poor physical health in parents caring for children with developmental
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Parents; Developmental disability; Physical health; Mastery; Social
support; Stress
ID AUTISM SPECTRUM DISORDER; BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITIES;
YOUNG-ADULTS; DIFFICULTIES QUESTIONNAIRE; SYNDROME SPECIFICITY;
EXPRESSED EMOTION; ANTIBODY-RESPONSE; PERCEIVED STRESS; RECEIVED SUPPORT
AB To date, much of the research linking the stress of caring for children with developmental disabilities (e.g. Autism & Down syndrome) with parental health outcomes have tended to concentrate on mental health with less attention paid to the physical health consequences. Thus, this study sought to explore the psychosocial predictors of poor physical health in these caring parents. One hundred and sixty-seven parents (109 caregivers and 58 control parents) completed measures of stress, child problem behaviours, social support, mastery and physical health. Parents of children with developmental disabilities had poorer physical health compared to control parents. Stress and mastery, but not social support and problem behaviours, were significant predictors of poor physical health within caring parents for children with developmental disabilities. However, the association between mastery and physical health was mediated by perceived stress such that those parents who were higher on mastery reported less stress and better physical health; furthermore, the association between stress and physical health was moderated by social support; those parents high on social support and low in stress had better physical health. These results indicate that the paths between psychosocial factors and poor physical health in the caring parents are working synergistically rather than in isolation. They also underscore the importance of providing multi-component interventions that offer a variety of psychosocial resources to meet the precise needs of the parents. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cantwell, Joanne; Muldoon, Orla T.; Gallagher, Stephen] Univ Limerick, Dept Psychol, Limerick, Ireland.
[Cantwell, Joanne; Muldoon, Orla T.; Gallagher, Stephen] Univ Limerick, Ctr Social Issues Res, Limerick, Ireland.
RP Cantwell, J (reprint author), Univ Limerick, Dept Psychol, Limerick, Ireland.
EM Joanne.Cantwell@ul.ie
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NR 64
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2215
EP 2223
DI 10.1016/j.ridd.2014.05.012
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200031
PM 24927515
ER
PT J
AU Kim, MS
Blair, KSC
Lim, KW
AF Kim, Mi-seon
Blair, Kwang-Sun Cho
Lim, Kyoung-won
TI Using tablet assisted Social Stories (TM) to improve classroom behavior
for adolescents with intellectual disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Tablet; Multimedia; Social Stories (TM); Intellectual disabilities;
Problem behavior; Academic engagement
ID AUTISM SPECTRUM DISORDERS; SPEECH-GENERATING DEVICE; 2 STUDENTS;
CHILDREN; SKILLS; IPOD; IPAD; INDIVIDUALS; INSTRUCTION; ENGAGEMENT
AB The present study examined the use of tablet assisted Social Stories (TM) intervention for three high school students with severe intellectual disabilities whose problem behavior interfered with their learning and caused classroom disruptions. A multiple probe design across participants was employed to test the impact of the tablet assisted SS on the participants' target behaviors. During intervention, the participants read the Social Stories that were created on Prezi and accessed via Quick Response (QR) codes using a Galaxy Tap smart tablet before participating in an academic period. Data indicated that the SS intervention decreased disruptive behavior and increased academic engagement in all three participants. All three demonstrated generalization of behaviors to a nontargeted academic period and maintenance of improved behaviors at the 2-week follow-up. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kim, Mi-seon; Lim, Kyoung-won] Kongju Natl Univ, Gongju, South Korea.
[Blair, Kwang-Sun Cho] Univ S Florida, Tampa, FL 33612 USA.
RP Blair, KSC (reprint author), Univ S Florida, 13301 Bruce B Downs Blvd,MHC 2336, Tampa, FL 33612 USA.
EM kwangsun@usf.edu
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NR 75
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2241
EP 2251
DI 10.1016/j.ridd.2014.05.011
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200034
PM 24927518
ER
PT J
AU Konst, MJ
Matson, JL
Goldin, R
Rieske, R
AF Konst, Matthew J.
Matson, Johnny L.
Goldin, Rachel
Rieske, Robert
TI How does ASD symptomology correlate with ADHD presentations?
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorders; Tantrum behavior; Autism Spectrum Disorders -
Comorbidity for Children (ASD-CC); Comorbidity
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
PERVASIVE DEVELOPMENTAL DISORDER; DEFICIT HYPERACTIVITY DISORDER;
DSM-IV-TR; SEVERE RETARDATION MESSIER; SOCIAL-SKILLS;
DIAGNOSTIC-CRITERIA; PSYCHIATRIC-DISORDERS; MENTAL-RETARDATION
AB Elevated rates of attention deficit/hyperactivity disorder (ADHD) symptoms have been documented in the autism spectrum disorder (ASD) population. However, the recent restructuring of the ASD diagnostic category and its respective symptom structure has elicited concern about how these changes may impact prevalence rates, the deliverance of services, and the rates of comorbid psychopathology. At present, few researchers have investigated the prevalence rates of specific ADHD presentations within ASD populations. As we seek to increase our understanding of ADHD symptom manifestation in ASD populations it is important to establish base rates of attention and hyperactive symptoms. The current manuscript sought to investigate the prevalence of inattention and impulsive symptoms in 1722 infants and toddlers. Individuals were separated into three diagnostic groups for analyses, a DSM-5 ASD group, an atypically developing group, and a DSM-IV-TR ASD group. Initial analysis extended previous research by demonstrating significantly elevated rates of inattention/impulsive symptoms in toddlers meeting DSM-5 criteria for ASD when compared to the DSM-IV-TR ASD and atypically developing groups. Additional analysis demonstrated that ASD symptom severity was positively correlated with inattention/impulsive symptoms regardless of primary diagnosis. Lastly, analyses examined the exhibition of inattention and impulsive symptoms separately within diagnostic groups. Results suggest that the expression of impulsive and inattentive symptoms did not significantly differ within diagnostic groups. Published by Elsevier Ltd.
C1 [Konst, Matthew J.; Matson, Johnny L.; Goldin, Rachel; Rieske, Robert] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 65
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD SEP
PY 2014
VL 35
IS 9
BP 2252
EP 2259
DI 10.1016/j.ridd.2014.05.017
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AK1MM
UT WOS:000338179200035
PM 24929307
ER
PT J
AU El-Ansary, A
Al-Ayadhi, L
AF El-Ansary, Afaf
Al-Ayadhi, Laila
TI Relative abundance of short chain and polyunsaturated fatty acids in
propionic acid-induced autistic features in rat pups as potential
markers in autism
SO LIPIDS IN HEALTH AND DISEASE
LA English
DT Article
DE Propionic acid; Rodent model; Autism; Short chain fatty acids;
Polyunsaturated fatty acids; Relative values
ID NF-KAPPA-B; DOCOSAHEXAENOIC ACID; ARACHIDONIC-ACID; SPECTRUM DISORDERS;
OXIDATIVE STRESS; SODIUM-BUTYRATE; NA+ CHANNELS; GLIOMA-CELLS; BRAIN;
METABOLISM
AB Background: Fatty acids are essential dietary nutrients, and one of their important roles is providing polyunsaturated fatty acids (PUFAs) for the growth and function of nervous tissue. Short chain fatty acids (SCFAs) are a group of compounds derived from the host microbiome that were recently linked to effects on the gut, the brain, and behavior. They are therefore linked to neurodevelopmental disorders such as autism. Reduced levels of PUFAs are associated with impairments in cognitive and behavioral performance, which are particularly important during brain development. Recent studies suggest that omega -3 fatty acids such as eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are involved in neurogenesis, neurotransmission, and protection from oxidative stress. Omega-3 PUFAs mediate some of these effects by antagonizing Omega-6 PUFA (arachidonic acid, AA)-induced proinflammatory prostaglandin E-2 (PGE(2)) formation.
Methods: In this work, the absolute and relative concentrations of propionic (PPA), butyric and acetic acids, as well as PUFAs and their precursors (alpha-Linolenic and linoleic), were measured in the brain tissue of PPA-neurointoxicated rat pups (receiving 250 mg PPA/Kg body weight for 3 consecutive days) as a rodent model with persistent autistic features compared with healthy controls.
Results: The data revealed remarkably lower levels of omega6/omega3, alpha-Linolenic/Linoleic, alpha-Linolenic/EPA, alpha-Linolenic/DHA, EPA/DHA, and AA/Linoleic acid ratios in PPA-intoxicated rats. The role of these impaired ratios is discussed in relation to the activity of desaturases and elongases, which are the two enzymatic groups involved in the synthesis of PUFAs from their precursors. The relationship between the abnormal relative concentrations of the studied fatty acids and oxidative stress, neurotransmission, and neuroinflammation is also discussed in detail.
Conclusions: This study demonstrates that fatty acid ratios are useful for understanding the mechanism of PPA neurotoxicity in a rodent model of autism. Therefore, it is possible to use these ratios for predictions in patients with this disorder.
C1 [El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[El-Ansary, Afaf; Al-Ayadhi, Laila] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf] Natl Res Ctr, Dept Med Chem, Cairo, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU Research Center of the Center for Female Scientific and Medical Colleges
in King Saud University
FX This research project was supported by a grant from the Research Center
of the Center for Female Scientific and Medical Colleges in King Saud
University.
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NR 62
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-511X
J9 LIPIDS HEALTH DIS
JI Lipids Health Dis.
PD AUG 31
PY 2014
VL 13
AR 140
DI 10.1186/1476-511X-13-140
PG 10
WC Biochemistry & Molecular Biology; Nutrition & Dietetics
SC Biochemistry & Molecular Biology; Nutrition & Dietetics
GA AP2HH
UT WOS:000341892800001
PM 25175350
ER
PT J
AU Gerlai, R
AF Gerlai, Robert
TI Social behavior of zebrafish: From synthetic images to biological
mechanisms of shoaling
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Ontogenesis and mechanisms of shoaling; Social behavior; Zebrafish;
Alcoholism; Fetal alcohol spectrum disorder
ID AUTISM SPECTRUM DISORDERS; DANIO-RERIO; SEROTONINERGIC SYSTEMS; FISH;
EXPOSURE; EXPRESSION; BRAIN; MODEL; NEUROCHEMISTRY; QUANTIFICATION
AB The zebrafish strikes a good balance between system complexity and practical simplicity and as a result it is becoming increasingly frequently utilized in biomedical research as a translational tool. Numerous human brain disorders are associated with abnormal social behavior and the zebrafish has been suggested for modeling such disorders. To start this line of research, however, one may need to first thoroughly examine the laboratory organism, zebrafish, and its features, social behavior in this case. Proper methods need be developed to induce and quantify social behavior. These paradigms maybe able to open a window to the brain and facilitate the understanding of the biological mechanisms of social behavior and its abnormalities. This review is based on an oral paper presented at the last Measuring Behavior Conference, and as such it is mainly focused on research conducted in my own laboratory. Tracing the temporal progression of our own work, it discusses questions including what shoaling is, how it can be induced and measured and how it can be utilized in the modeling of certain human brain disorders, for example, alcohol induced abnormalities. (C) 2014 Elsevier B.V. All rights reserved.
C1 Univ Toronto, Dept Psychol, Mississauga, ON L5L 1C6, Canada.
RP Gerlai, R (reprint author), Univ Toronto, Dept Psychol, 3359 Mississauga Rd North,Rm DV4023C, Mississauga, ON L5L 1C6, Canada.
EM robert_gerlai@yahoo.com
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NR 52
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 59
EP 65
DI 10.1016/j.jneumeth.2014.04.028
PG 7
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300007
PM 24793400
ER
PT J
AU Seffer, D
Schwarting, RKW
Wohr, M
AF Seffer, Dominik
Schwarting, Rainer K. W.
Woehr, Markus
TI Pro-social ultrasonic communication in rats: Insights from playback
studies
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Ultrasonic communication; Ultrasonic vocalizations; Social behavior;
Animal model; Autism; Schizophrenia
ID ANXIETY-RELATED BEHAVIOR; RATTUS-NORVEGICUS; SEXUAL-BEHAVIOR; FEMALE
RATS; STIMULUS CONFIGURATION; CATEGORICAL PERCEPTION; 50-KHZ
VOCALIZATIONS; JUVENILE RATS; MOUSE MODELS; ALARM CRIES
AB Rodent ultrasonic vocalizations (USV) serve as situation-dependent affective signals and convey important communicative functions. In the rat, three major USV types exist: (I) 40-kHz USV, which are emitted by pups during social isolation: (II) 22-kHz USV, which are produced by juvenile and adult rats in aversive situations, including social defeat: and (III) 50-kHz USV, which are uttered by juvenile and adult rats in appetitive situations, including rough-and-tumble play. Here, evidence for a communicative function of 50-kHz USV is reviewed, focusing on findings obtained in the recently developed 50-kHz USV radial maze playback paradigm. Up to now, the following five acoustic stimuli were tested in this paradigm: (A) natural 50-kHz USV, (B) natural 22-kHz USV, (C) artificial 50-kHz sine wave tones, (D) artificial time- and amplitude-matched white noise, and (E) background noise. All studies using the 50-kHz USV radial maze playback paradigm indicate that 50-kHz USV serve a pro-social affiliative function as social contact calls. While playback of the different kinds of acoustic stimuli used so far elicited distinct behavioral response patterns, 50-kHz USV consistently led to social approach behavior in the recipient, indicating that pro-social ultrasonic communication can be studied in a reliable and highly standardized manner by means of the 50-kHz USV radial maze playback paradigm. This appears to be particularly relevant for rodent models of neurodevelopmental disorders, as there is a tremendous need for reliable behavioral assays with face validity to social communication deficits seen in autism and schizophrenia in order to study underlying genetic and neurobiological alterations. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Seffer, Dominik; Schwarting, Rainer K. W.; Woehr, Markus] Univ Marburg, D-35032 Marburg, Germany.
RP Wohr, M (reprint author), Univ Marburg, Gutenbergstr 18, D-35032 Marburg, Germany.
EM markus.woehr@staff.uni-marburg.de
FU Deutsche Forschungsgemeinschaft [DFG WO 1732/1-1]
FX M.W. is supported by the Deutsche Forschungsgemeinschaft (DFG WO
1732/1-1).
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NR 73
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 73
EP 81
DI 10.1016/j.jneumeth.2014.01.023
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300009
PM 24508146
ER
PT J
AU Sungur, AO
Vorckel, KJ
Schwarting, RKW
Wohr, M
AF Sungur, A. Oezge
Voerckel, Karl J.
Schwarting, Rainer K. W.
Woehr, Markus
TI Repetitive behaviors in the Shank1 knockout mouse model for autism
spectrum disorder: Developmental aspects and effects of social context
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Animal model; Neurodevelopmental disorders; Postsynaptic density;
Repetitive behavior; Marble burying; Self-grooming
ID SCAFFOLDING PROTEIN SHANK3; FEMALE HOUSE MICE; ULTRASONIC VOCALIZATIONS;
PSYCHIATRIC-DISORDERS; SYNAPTIC-TRANSMISSION; SCENT-MARKING;
SEX-PHEROMONE; MUS-MUSCULUS; MUTANT MICE; MUTATIONS
AB Background: Autism spectrum disorder (ASD) is characterized by persistent deficits in social behavior and communication, together with restricted and repetitive patterns of behavior. Several ASD candidate genes have been identified, including the SHANK gene family with its three family members SHANK1, SHANK2, and SHANK3.
Methods: Typically, repetitive behavior in mouse models for ASD is assessed by measuring self-grooming behavior. The first aim of the current study was to assess repetitive behaviors in Shank1(-/-) null mutant, Shank1(+/-) heterozygous, and Shank1(+/+) wildtype littermate control mice by means of a comprehensive approach, including the assessment of self-grooming, digging behavior, and marble burying. The second aim was to establish a test paradigm that allows for assessing the effects of social context on the occurrence of repetitive behaviors in a genotype-dependent manner. To this aim, repetitive behaviors were repeatedly tested on three consecutive days in distinct social contexts, namely in presence or absence of social odors.
Results: Shank1(+/-) heterozygous and to a lesser extent Shank1(-/-) null mutant mice displayed slightly elevated levels of self-grooming behavior as adults, but not as juveniles, with genotype differences being most prominent in the social context. In contrast to elevated self-grooming behavior, marble burying was strongly reduced in adult Shank1(+/-) heterozygous and Shank1(-/-) null mutant mice across social contexts, as compared to adult Shank1(+/+) wildtype littermate controls.
Conclusion: The opposite effects of the Shank1 deletion on the two types of repetitive behaviors are in line with a number of studies on repetitive behaviors in other genetic Shank models. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Sungur, A. Oezge; Voerckel, Karl J.; Schwarting, Rainer K. W.; Woehr, Markus] Philipps Univ Marburg, D-35032 Marburg, Germany.
RP Wohr, M (reprint author), Philipps Univ Marburg, Gutenbergstr 18, D-35032 Marburg, Germany.
EM markus.woehr@staff.uni-marburg.de
FU German Research Foundation (Deutsche Forschungsgemeinschaft) [DFG WO
1732/1-1]
FX This work was supported by a grant by the German Research Foundation
(Deutsche Forschungsgemeinschaft) to M.W. (DFG WO 1732/1-1). The authors
wish to thank Jacqueline Crawley, University of California Davis School
of Medicine, and the Howard Hughes Medical Institute investigators
Albert Hung and Morgan Sheng for providing the Shank1 mouse line. The
authors also wish to thank Clara Krzikalla and Max Rollwage for their
help in data acquisition.
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Yoo J, 2013, PHILOS T R SOC LON B, V369
NR 70
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD AUG 30
PY 2014
VL 234
SI SI
BP 92
EP 100
DI 10.1016/j.jneumeth.2014.05.003
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AO0GE
UT WOS:000340986300011
PM 24820912
ER
PT J
AU Riedel, A
Maier, S
Ulbrich, M
Biscaldi, M
Ebert, D
Fangmeier, T
Perlov, E
van Elst, LT
AF Riedel, Andreas
Maier, Simon
Ulbrich, Melanie
Biscaldi, Monica
Ebert, Dieter
Fangmeier, Thomas
Perlov, Evgeniy
van Elst, Ludger Tebartz
TI No significant brain volume decreases or increases in adults with
high-functioning autism spectrum disorder and above average
intelligence: A voxel-based morphometric study
SO PSYCHIATRY RESEARCH-NEUROIMAGING
LA English
DT Article
DE Autism spectrum disorder (ASD); Asperger's syndrome; Voxel-based
morphometry (VBM); High IQ
ID ROSTRAL PREFRONTAL CORTEX; LIKELIHOOD ESTIMATION; DIAGNOSTIC INTERVIEW;
SEX-DIFFERENCES; METAANALYSIS; VERSION; MATTER; SCALE; MRI;
ABNORMALITIES
AB Autism spectrum disorder (ASD) is increasingly being recognized as an important issue in adult psychiatry and psychotherapy. High intelligence indicates overall good brain functioning and might thus present a particularly good opportunity to study possible cerebral correlates of core autistic features in terms of impaired social cognition, communication skills, the need for routines, and circumscribed interests. Anatomical MRI data sets for 30 highly intelligent patients with high-functioning autism and 30 pairwise-matched control subjects were acquired and analyzed with voxel-based morphometry. The gray matter volume of the pairwise-matched patients and the controls did not differ significantly. When correcting for total brain volume influences, the patients with ASD exhibited smaller left superior frontal volumes on a trend level. Heterogeneous volumetric findings in earlier studies might partly be explained by study samples biased by a high inclusion rate of secondary forms of ASD, which often go along with neuronal abnormalities. Including only patients with high IQ scores might have decreased the influence of secondary forms of ASD and might explain the absence of significant volumetric differences between the patients and the controls in this study. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Riedel, Andreas; Ulbrich, Melanie; Ebert, Dieter; Fangmeier, Thomas; Perlov, Evgeniy; van Elst, Ludger Tebartz] Univ Freiburg, Clin Psychiat & Psychotherapy, Sect Expt Neuropsychiat, D-79104 Freiburg, Germany.
[Riedel, Andreas; Ebert, Dieter; Fangmeier, Thomas; van Elst, Ludger Tebartz] Univ Freiburg, Clin Psychiat & Psychotherapy, Univ Zentrum Autismus Spektrum, D-79104 Freiburg, Germany.
[Maier, Simon; van Elst, Ludger Tebartz] Univ Med Ctr Freiburg, Freiburg Brain Imaging, D-79106 Freiburg, Germany.
[Maier, Simon] Univ Freiburg, Inst Biol 3, Fac Biol, D-79104 Freiburg, Germany.
[Biscaldi, Monica] Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, D-79104 Freiburg, Germany.
RP Maier, S (reprint author), Univ Med Ctr Freiburg, Freiburg Brain Imaging, Breisacher Str 64, D-79106 Freiburg, Germany.
EM simon.maier@uniklinik-freiburg.de
FU Federal Ministry of Education and Research [BMBF 01GV0606]
FX We thank Christoph Kaller for providing help and codes for the pair-wise
matching procedure. Part of the study was supported by a grant from the
Federal Ministry of Education and Research to LTVE (BMBF 01GV0606 to
LTvE).
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NR 53
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0925-4927
EI 1872-7506
J9 PSYCHIAT RES-NEUROIM
JI Psychiatry Res. Neuroimaging
PD AUG 30
PY 2014
VL 223
IS 2
BP 67
EP 74
DI 10.1016/j.pscychresns.2014.05.013
PG 8
WC Clinical Neurology; Neuroimaging; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM6ZK
UT WOS:000340014300003
PM 24953998
ER
PT J
AU Chantiluke, K
Christakou, A
Murphy, CM
Giampietro, V
Daly, EM
Ecker, C
Brammer, M
Murphy, DG
Rubia, K
AF Chantiluke, Kaylita
Christakou, Anastasia
Murphy, Clodagh M.
Giampietro, Vincent
Daly, Eileen M.
Ecker, Christina
Brammer, Michael
Murphy, Declan G.
Rubia, Katya
CA MRC Aims Consortium
TI Disorder-specific functional abnormalities during temporal discounting
in youth with Attention Deficit Hyperactivity Disorder (ADHD), Autism
and comorbid ADHD and Autism
SO PSYCHIATRY RESEARCH-NEUROIMAGING
LA English
DT Article
DE ADHD; Autism; ASD; fMRI; Temporal discounting
ID DEFICIT/HYPERACTIVITY DISORDER; DECISION-MAKING; SPECTRUM DISORDERS;
BRAIN ACTIVATION; FMRI; CHILDREN; METAANALYSIS; POPULATION; BEHAVIOR;
CORTEX
AB Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are often comorbid and share cognitive abnormalities in temporal foresight. A key question is whether shared cognitive phenotypes are based on common or different underlying pathophysiologies and whether comorbid patients have, additive neurofunctional deficits, resemble one of the disorders or have a different pathophysiology. We compared age- and IQ-matched boys with non-comorbid ADHD (18), non-comorbid ASD (15), comorbid ADHD and ASD (13) and healthy controls (18) using functional magnetic resonance imaging (fMRI) during a temporal discounting task. Only the ASD and the comorbid groups discounted delayed rewards more steeply. The fMRI data showed both shared and disorder-specific abnormalities in the three groups relative to controls in their brain-behaviour associations. The comorbid group showed both unique and more severe brain-discounting associations than controls and the non-comorbid patient groups in temporal discounting areas of ventromedial and lateral prefrontal cortex, ventral striatum and anterior cingulate, suggesting that comorbidity is neither an endophenocopy of the two pure disorders nor an additive pathology. (C) 2014 The Authors. Published by Elsevier Ireland Ltd.
C1 [Chantiluke, Kaylita; Murphy, Clodagh M.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
[Murphy, Clodagh M.; Daly, Eileen M.; Ecker, Christina; Murphy, Declan G.; Rubia, Katya] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
[Murphy, Clodagh M.; Daly, Eileen M.; Ecker, Christina; Murphy, Declan G.; Rubia, Katya] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
[Giampietro, Vincent; Brammer, Michael] Kings Coll London, Inst Psychiat, Dept Neuroimaging, London WC2R 2LS, England.
[Christakou, Anastasia] Univ Reading, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
[Christakou, Anastasia] Univ Reading, Sch Psychol & Clin Language Sci, Reading, Berks, England.
RP Rubia, K (reprint author), MRC Ctr Social Genet & Dev Psychiat SGDP, Dept Child Psychiat, Inst Psychiat, PO46,16 De Crespigny Pk, London SE5 8AF, England.
EM katya.rubia@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010; Bailey,
Anthony/J-2860-2014
OI Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council [MRC GO300155]; MRC UK Autism Imaging
Multicentre Study [G0400061]; MRC [G0300155]; Institute of Psychiatry,
King's College London
FX This study was supported by Grants from the Medical Research Council
(MRC GO300155) to Prof. Katya Rubia and the MRC UK Autism Imaging
Multicentre Study (G0400061) to Prof. Declan Murphy. Dr. Anastasia
Christakou was supported by a post-doctoral fellowship from MRC
G0300155. Kaylita Chantiluke was supported by a Ph.D. studentship from
the Institute of Psychiatry, King's College London.
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NR 53
TC 3
Z9 3
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0925-4927
EI 1872-7506
J9 PSYCHIAT RES-NEUROIM
JI Psychiatry Res. Neuroimaging
PD AUG 30
PY 2014
VL 223
IS 2
BP 113
EP 120
DI 10.1016/j.pscychresns.2014.04.006
PG 8
WC Clinical Neurology; Neuroimaging; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM6ZK
UT WOS:000340014300008
PM 24929553
ER
PT J
AU Papadopoulos, N
McGinley, JL
Bradshaw, JL
Rinehart, NJ
AF Papadopoulos, Nicole
McGinley, Jennifer L.
Bradshaw, John L.
Rinehart, Nicole J.
TI An investigation of gait in children with Attention Deficit
Hyperactivity Disorder: A case controlled study
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE ADHD; Autism; Gait; Social-communication disturbance; Inattention
ID HIGH-FUNCTIONING AUTISM; ASPERGERS-DISORDER; DEFICIT/HYPERACTIVITY
DISORDER; MOTOR; ADHD; PERFORMANCE; TASK; DISTURBANCE; CEREBELLUM; BOYS
AB This study aimed to compare the gait of children with ADHD - Combined Type (ADHD-CT) to typically developing (TD) children. Children with ADHD-CT (n=14; mean age 10 years 4 months) and a TD group (n=13; mean age 10 years 9 months) walked at self-selected slow, preferred and fast speed on an electronic walkway system. Participants completed a total of 15 walking trials; 5 trials per walking condition. Groups were matched on age, intellectual functioning, height and weight. In the preferred walking condition, there was no difference in spatio-temporal gait variables between the ADHD-CT and TD control groups. At self-selected fast speed, children with ADHD-CT were faster and walked with a higher cadence. The subtle alterations in gait pattern that may reflect a timing deficit is consistent with previous ADHD motor studies. In addition, this study extends previous studies in characterising the unique gait profile of non-medicated children with ADHD-CT where a diagnosis of autism spectrum disorder has been ruled out. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Papadopoulos, Nicole; Bradshaw, John L.; Rinehart, Nicole J.] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[McGinley, Jennifer L.] Univ Melbourne, Melbourne, Vic 3010, Australia.
[McGinley, Jennifer L.] Southern Hlth, Clin Res Ctr Movement & Gait Disorders, Clayton, Vic, Australia.
[Papadopoulos, Nicole; Rinehart, Nicole J.] Deakin Univ, Sch Psychol, Deakin Child Study Ctr, Burwood, Vic 3125, Australia.
RP Papadopoulos, N (reprint author), Deakin Univ, Sch Psychol, Burwood Campus,Melbourne Burwood Campus, Burwood, Vic 3125, Australia.
EM Nicole.Papadopoulos@deakin.edu.au
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WECHSLER D., 2005, MANUAL WECHSLER INTE
Wechsler D, 1999, WASI WECHSLER ABBREV
NR 41
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD AUG 30
PY 2014
VL 218
IS 3
BP 319
EP 323
DI 10.1016/j.psychres.2014.04.037
PG 5
WC Psychiatry
SC Psychiatry
GA AK7GZ
UT WOS:000338598000009
PM 24837426
ER
PT J
AU Corbett, BA
Newsom, C
Key, AP
Qualls, LR
Edmiston, EK
AF Corbett, Blythe A.
Newsom, Cassandra
Key, Alexandra P.
Qualls, Lydia R.
Edmiston, E. Kale
TI Examining the relationship between face processing and social
interaction behavior in children with and without autism spectrum
disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Play; Ecological validity; Neuropsychology;
Face memory
ID ECOLOGICAL VALIDITY; FACIAL EXPRESSIONS; RECOGNITION; EMOTIONS; BRAIN;
ADOLESCENTS; MOTIVATION; COGNITION; CORTISOL; IDENTITY
AB Background: Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are considered to be interdependent, it is valuable to examine social processes on multiple levels of analysis. Neuropsychological measures of face processing often reveal deficits in social cognition in ASD including the ability to identify and remember facial information. However, the extent to which neuropsychological measures are associated with or predictive of real-world social behavior is unclear.
Methods: The study investigated 66 children (ASD 34, typically developing (TD) 32) using neuropsychological measures of face processing (identity, affect, and memory). Children also participated in a peer interaction paradigm, which allowed observation and coding of natural social interaction behaviors during play with peers (e. g., Self-Play, Cooperative Play, Verbal Bout). ANCOVA, regression, and correlation models analyzed between-group differences, the ability of neuropsychological measures to predict social behavior, and the strength of the associations.
Results: Between-group differences were shown on Memory for Faces Delayed and the peer interaction variables Self-Play and Verbal Bout. Regression models indicated that Memory for Faces Delayed predicted the amount of Self-Play, Equipment use alone, and Cooperative Play with peers on the playground. Autism symptomology only predicted verbal exchange with peers.
Conclusions: Face memory strongly predicts relevant social engagement patterns in both children with and without ASD. Impairment in facial memory is associated with reduced 'real-world' social interaction and more self-play, whereas higher performance in face memory predicts more cooperative play. Results highlight the strong connection between face memory and reciprocal social interaction, suggesting that improvement in one may benefit the other.
C1 [Corbett, Blythe A.; Newsom, Cassandra; Qualls, Lydia R.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.; Newsom, Cassandra; Key, Alexandra P.; Qualls, Lydia R.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37203 USA.
[Newsom, Cassandra] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Key, Alexandra P.] Vanderbilt Univ, Dept Hearing & Speech Sci, Nashville, TN 37203 USA.
[Edmiston, E. Kale] Vanderbilt Univ, Vanderbilt Brain Inst, Nashville, TN 37203 USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, Dept Psychiat, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU National Institute of Mental Health (NIMH) [MH085717]; National
Institute of Child Development (NICHD) [P30 HD15052]; CTSA award,
National Center for Advancing Translational Sciences [UL1TR000445]
FX The study was funded by a grant from the National Institute of Mental
Health (NIMH) MH085717 awarded to Blythe Corbett, a grant from the
National Institute of Child Development (NICHD) P30 HD15052 awarded to
the Vanderbilt Kennedy Center and a CTSA award No. UL1TR000445 from the
National Center for Advancing Translational Sciences. The NIMH and NICHD
did not have any involvement in the design; in the collection, analysis,
and interpretation of data; in the writing of the report; and in the
decision to submit the article for publication.
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NR 68
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 29
PY 2014
VL 6
AR 35
DI 10.1186/1866-1955-6-35
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PK
UT WOS:000341167000001
PM 25180050
ER
PT J
AU Nankova, BB
Agarwal, R
MacFabe, DF
La Gamma, EF
AF Nankova, Bistra B.
Agarwal, Raj
MacFabe, Derrick F.
La Gamma, Edmund F.
TI Enteric Bacterial Metabolites Propionic and Butyric Acid Modulate Gene
Expression, Including CREB-Dependent Catecholaminergic
Neurotransmission, in PC12 Cells - Possible Relevance to Autism Spectrum
Disorders
SO PLOS ONE
LA English
DT Article
ID CHAIN FATTY-ACIDS; TYROSINE-HYDROXYLASE GENE; GLUTATHIONE REDOX
IMBALANCE; RAT DISTAL COLON; VALPROIC ACID; RODENT MODEL;
NEURODEVELOPMENTAL DISORDERS; HISTONE-DEACETYLASE; GUT MICROBIOTA;
MESSENGER-RNA
AB Alterations in gut microbiome composition have an emerging role in health and disease including brain function and behavior. Short chain fatty acids (SCFA) like propionic (PPA), and butyric acid (BA), which are present in diet and are fermentation products of many gastrointestinal bacteria, are showing increasing importance in host health, but also may be environmental contributors in neurodevelopmental disorders including autism spectrum disorders (ASD). Further to this we have shown SCFA administration to rodents over a variety of routes (intracerebroventricular, subcutaneous, intraperitoneal) or developmental time periods can elicit behavioral, electrophysiological, neuropathological and biochemical effects consistent with findings in ASD patients. SCFA are capable of altering host gene expression, partly due to their histone deacetylase inhibitor activity. We have previously shown BA can regulate tyrosine hydroxylase (TH) mRNA levels in a PC12 cell model. Since monoamine concentration is known to be elevated in the brain and blood of ASD patients and in many ASD animal models, we hypothesized that SCFA may directly influence brain monoaminergic pathways. When PC12 cells were transiently transfected with plasmids having a luciferase reporter gene under the control of the TH promoter, PPA was found to induce reporter gene activity over a wide concentration range. CREB transcription factor(s) was necessary for the transcriptional activation of TH gene by PPA. At lower concentrations PPA also caused accumulation of TH mRNA and protein, indicative of increased cell capacity to produce catecholamines. PPA and BA induced broad alterations in gene expression including neurotransmitter systems, neuronal cell adhesion molecules, inflammation, oxidative stress, lipid metabolism and mitochondrial function, all of which have been implicated in ASD. In conclusion, our data are consistent with a molecular mechanism through which gut related environmental signals such as increased levels of SCFA's can epigenetically modulate cell function further supporting their role as environmental contributors to ASD.
C1 [Nankova, Bistra B.; Agarwal, Raj; La Gamma, Edmund F.] Maria Fareri Childrens Hosp, Dept Pediat, New York Med Coll, Valhalla, NY 10595 USA.
[MacFabe, Derrick F.] Univ Western Ontario, Kilee Patchell Evans Autism Res Grp, Dept Psychol Neurosci, London, ON, Canada.
[MacFabe, Derrick F.] Univ Western Ontario, Dept Psychiat, Div Dev Disabil, London, ON N6A 3K7, Canada.
RP Nankova, BB (reprint author), Maria Fareri Childrens Hosp, Dept Pediat, New York Med Coll, Valhalla, NY 10595 USA.
EM bistra_nankova@nymc.edu
FU Children's Research Foundation; Children's and Women's Physicians of
Westchester (CWPW); GoodLife's Children's Foundation; Autism Research
Institute
FX Children's Research Foundation and Children's and Women's Physicians of
Westchester (CWPW) to BN and ELG; GoodLife's Children's Foundation and
Autism Research Institute to DM. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 134
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 29
PY 2014
VL 9
IS 8
AR e103740
DI 10.1371/journal.pone.0103740
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO2EE
UT WOS:000341127500014
PM 25170769
ER
PT J
AU Yu, QW
Peng, Y
Mishra, V
Ouyang, A
Li, H
Zhang, H
Chen, M
Liu, SW
Huang, H
AF Yu, Qiaowen
Peng, Yun
Mishra, Virendra
Ouyang, Austin
Li, Hang
Zhang, Hong
Chen, Min
Liu, Shuwei
Huang, Hao
TI Microstructure, length, and connection of limbic tracts in normal human
brain development
SO FRONTIERS IN AGING NEUROSCIENCE
LA English
DT Article
DE limbic tract; development; trajectory; length; microstructure; DTI;
connectivity; free water elimination
ID RESTING-STATE NETWORKS; OBSESSIVE-COMPULSIVE DISORDER; ANTERIOR
CINGULATE CORTEX; WHITE-MATTER MATURATION; CENTRAL-NERVOUS-SYSTEM;
DEFAULT MODE NETWORK; DIFFUSION-TENSOR; STRUCTURAL CONNECTIVITY;
FUNCTIONAL CONNECTIVITY; ALZHEIMERS-DISEASE
AB The cingulum and fornix play an important role in memory, attention, spatial orientation, and feeling functions. Both microstructure and length of these limbic tracts can be affected by mental disorders such as Alzheimer's disease, depression, autism, anxiety, and schizophrenia. To date, there has been little systematic characterization of their microstructure, length, and functional connectivity in normally developing brains. In this study, diffusion tensor imaging (DTI) and resting state functional MRI (rs-fMRI) data from 65 normally developing right-handed subjects from birth to young adulthood was acquired. After cingulate gyrus part of the cingulum (cgc), hippocampal part of the cingulum (cgh) and fornix (fx) were traced with DTI tractography, absolute and normalized tract lengths and DTI-derived metrics including fractional anisotropy, mean, axial, and radial diffusivity were measured for traced limbic tracts. Free water elimination (EWE) algorithm was adopted to improve accuracy of the measurements of DTI-derived metrics. The role of these limbic tracts in the functional network at birth and adulthood was explored. We found a logarithmic age-dependent trajectory for EWE-corrected DTI metric changes with fast increase of microstructural integrity from birth to 2 years old followed by a slow increase to 25 years old. Normalized tract length of cgc increases with age, while no significant relationship with age was found for normalized tract lengths of cgh and fx. Stronger microstructural integrity on the left side compared to that of the right side was found. With integrated DTI and rs-fMRI, the key connectional role of cgc and cgh in the default mode network was confirmed as early as birth. Systematic characterization of length and DTI metrics after EWE correction of limbic tracts offers insight into their morphological and microstructural developmental trajectories. These trajectories may serve as a normal reference for pediatric patients with mental disorders.
C1 [Yu, Qiaowen; Liu, Shuwei] Shandong Univ, Sch Med, Res Ctr Sect & Imaging Anat, Shandong Prov Key Lab Mental Disorders, Jinan 250012, Shandong, Peoples R China.
[Yu, Qiaowen; Mishra, Virendra; Ouyang, Austin; Huang, Hao] Univ Texas SW Med Ctr Dallas, Adv Imag Res Ctr, Dallas, TX 75390 USA.
[Peng, Yun; Li, Hang; Zhang, Hong] Capital Med Univ, Beijing Childrens Hosp, Dept Radiol, Beijing, Peoples R China.
[Chen, Min] Univ Texas Dallas, Dept Math Sci, Richardson, TX 75083 USA.
[Huang, Hao] Univ Texas SW Med Ctr Dallas, Dept Radiol, Dallas, TX 75390 USA.
RP Liu, SW (reprint author), Shandong Univ, Sch Med, Res Ctr Sect & Imaging Anat, Shandong Prov Key Lab Mental Disorders, 44 West Wenhua Rd, Jinan 250012, Shandong, Peoples R China.
EM liusw@sdu.edu.cn; hao.huang@utsouthwestern.edu
FU NIH [MH092535, MH092535-S1]; Natural Science Foundation of China
[31271161, 31071050]; Specialized Research Fund for the Doctoral Program
of Higher Education of China [20120131130008]
FX This study is sponsored by NIH (MH092535 and MH092535-S1), Natural
Science Foundation of China (Grant Nos. 31271161 and 31071050), and
Specialized Research Fund for the Doctoral Program of Higher Education
of China (No. 20120131130008).
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NR 62
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1663-4365
J9 FRONT AGING NEUROSCI
JI Front. Aging Neurosci.
PD AUG 28
PY 2014
VL 6
AR 228
DI 10.3389/fnagi.2014.00228
PG 13
WC Geriatrics & Gerontology; Neurosciences
SC Geriatrics & Gerontology; Neurosciences & Neurology
GA AN9NT
UT WOS:000340934400001
PM 25221509
ER
PT J
AU Weinstein, TAR
Bales, KL
Maninger, N
Hostetler, CM
Capitanio, JP
AF Weinstein, Tamara A. R.
Bales, Karen L.
Maninger, Nicole
Hostetler, Caroline M.
Capitanio, John P.
TI Early involvement in friendships predicts later plasma concentrations of
oxytocin and vasopressin in juvenile rhesus macaques (Macaca mulatta)
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE affiliation; friendship; oxytocin; rhesus macaque; social behavior;
vasopressin
ID MALE PRAIRIE VOLES; AUTISM SPECTRUM DISORDERS;
CORTICOTROPIN-RELEASING-FACTOR; WILD FEMALE BABOONS; SEX-DIFFERENCES;
ARGININE-VASOPRESSIN; INTRANASAL OXYTOCIN; SOCIAL SUPPORT;
MICROTUS-OCHROGASTER; DEVELOPMENTAL EXPOSURE
AB The neuropeptides oxytocin (OT) and arginine vasopressin (AVP) are involved in social bonding in attachment relationships, but their role in friendship is poorly understood. We investigated whether rhesus macaques' (Macaca mulatta) friendships at age one predicted plasma OT and AVP at two later time points. Subjects were 54 rhesus macaques at the California National Primate Research Center (CNPRC). Blood was drawn during a brief capture-and-release in the home cage, and plasma assayed for OT and AVP using an enzyme immunoassay (EIA). Separate linear mixed models for each sex tested the effects of dominance rank, age, sampling time point, housing condition, parturition status, two blood draw timing measures, and five friendship types: proximity friendships, play friendships, reciprocal friendships (a preference for a peer that also preferred the subject), multiplex friendships (friendships displayed in more than one behavioral domain), and total number of friendships. Females' number of reciprocal and play friendships at age one significantly predicted later OT, additionally, these two friendship types interacted with rank, such that high-ranking females with the fewest friendships had the highest OT concentrations. Friendship did not predict later OT levels in males, however proximity, play, reciprocal, and total number of friendships predicted males' plasma AVP. Play and total number of friendships also tended to predict AVP in females. Our results show that peripheral measures of neuroendocrine functioning in juvenile rhesus monkeys are influenced by early involvement in friendships. Friendships have an especially strong impact on an individual's psychosocial development, and our data suggest OT and AVP as potential underlying mechanisms. Moreover, sex differences in the functioning of the OT and AVP systems, and their relation to friendship, may have important clinical implications for the use of OT as a therapeutic, as well as informing the social context in which it is administered.
C1 [Weinstein, Tamara A. R.; Bales, Karen L.; Maninger, Nicole; Hostetler, Caroline M.; Capitanio, John P.] Univ Calif Davis, Calif Natl Primate Res Ctr, Davis, CA 95616 USA.
[Hostetler, Caroline M.] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
RP Weinstein, TAR (reprint author), Univ Calif Davis, Calif Natl Primate Res Ctr, 1 Shields Ave, Davis, CA 95616 USA.
EM tarweinstein@ucdavis.edu
FU NIH [RR00169, RR019970, MH20006, HD053555, HD071998]; NSF; Good Nature
Institute
FX We are very grateful to Laura Del Rosso, Erna Tarara., Isabel
Shelton-Mottsmith, Christine Brennan, Katie Hinde, and Susie Kang for
assisting with data collection, and to the CNPRC animal care staff for
their help with Mood sampling, animal identification, and accommodating
our research schedule. This work was supported by NIH grant RR00169 to
the CNPRC and NIH grant RR019970 to John P. Capitanio. While conducting
this research, Tamara A. R. Weinstein was supported by the NSF Graduate
Research Fellowship and by the NIH training grant MH20006. During the
writing of this paper, Karen L. Bales was funded by NIH grants HD053555
and HD071998, and the Good Nature Institute.
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NR 143
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD AUG 28
PY 2014
VL 8
AR 295
DI 10.3389/fnbeh.2014.00295
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN9DY
UT WOS:000340907400001
PM 25221489
ER
PT J
AU Wilkins, RW
Hodges, DA
Laurienti, PJ
Steen, M
Burdette, JH
AF Wilkins, R. W.
Hodges, D. A.
Laurienti, P. J.
Steen, M.
Burdette, J. H.
TI Network Science and the Effects of Music Preference on Functional Brain
Connectivity: From Beethoven to Eminem
SO SCIENTIFIC REPORTS
LA English
DT Article
ID DEFAULT MODE NETWORK; SMALL-WORLD; EMOTIONAL RESPONSES; MEMORY; AUTISM;
CONSCIOUSNESS; PERSONALITY; CORRELATE; PLEASANT; DISEASE
AB Most people choose to listen to music that they prefer or 'like' such as classical, country or rock. Previous research has focused on how different characteristics of music (i.e., classical versus country) affect the brain. Yet, when listening to preferred music-regardless of the type-people report they often experience personal thoughts and memories. To date, understanding how this occurs in the brain has remained elusive. Using network science methods, we evaluated differences in functional brain connectivity when individuals listened to complete songs. We show that a circuit important for internally-focused thoughts, known as the default mode network, was most connected when listening to preferred music. We also show that listening to a favorite song alters the connectivity between auditory brain areas and the hippocampus, a region responsible for memory and social emotion consolidation. Given that musical preferences are uniquely individualized phenomena and that music can vary in acoustic complexity and the presence or absence of lyrics, the consistency of our results was unexpected. These findings may explain why comparable emotional and mental states can be experienced by people listening to music that differs as widely as Beethoven and Eminem. The neurobiological and neurorehabilitation implications of these results are discussed.
C1 [Wilkins, R. W.; Laurienti, P. J.; Steen, M.; Burdette, J. H.] Wake Forest Sch Med, Lab Complex Brain Networks, Winston Salem, NC 27157 USA.
[Wilkins, R. W.] Univ N Carolina, Gateway MRI Ctr, Joint Sch Nanosci & Nanoengn, Neuroimaging Lab Complex Syst, Greensboro, NC 27401 USA.
[Wilkins, R. W.; Hodges, D. A.] Univ N Carolina, Mus Res Inst, Greensboro, NC 27403 USA.
RP Wilkins, RW (reprint author), Wake Forest Sch Med, Lab Complex Brain Networks, Winston Salem, NC 27157 USA.
EM robinwwilkins@gmail.com
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NR 63
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD AUG 28
PY 2014
VL 4
AR 6130
DI 10.1038/srep06130
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN9NZ
UT WOS:000340935000001
PM 25167363
ER
PT J
AU Kashihara, K
AF Kashihara, Koji
TI A brain-computer interface for potential non-verbal facial communication
based on EEG signals related to specific emotions
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE neutral faces; source localization; aversive conditioning; face
recognition; electroencephalogram; brain computer interfaces
ID AMYOTROPHIC-LATERAL-SCLEROSIS; HUMAN NEURAL SYSTEM; FACE PERCEPTION;
RECOGNITION; AMYGDALA; CORTEX; PROSOPAGNOSIA; EXPRESSIONS; PERFORMANCE;
SYNCHRONY
AB Unlike assistive technology for verbal communication, the brain-machine or brain-computer interface (BMI/BCI) has not been established as a non-verbal communication tool for amyotrophic lateral sclerosis (ALS) patients. Face-to-face communication enables access to rich emotional information, but individuals suffering from neurological disorders, such as ALS and autism, may not express their emotions or communicate their negative feelings. Although emotions may be inferred by looking at facial expressions, emotional prediction for neutral faces necessitates advanced judgment. The process that underlies brain neuronal responses to neutral faces and causes emotional changes remains unknown. To address this problem, therefore, this study attempted to decode conditioned emotional reactions to neutral face stimuli. This direction was motivated by the assumption that if electroencephalogram (EEG) signals can be used to detect patients' emotional responses to specific inexpressive faces, the results could be incorporated into the design and development of BMI/BCI-based non-verbal communication tools. To these ends, this study investigated how a neutral face associated with a negative emotion modulates rapid central responses in face processing and then identified cortical activities. The conditioned neutral face-triggered event-related potentials that originated from the posterior temporal lobe statistically significantly changed during late face processing (600-700 ms) after stimulus, rather than in early face processing activities, such as P1 and N170 responses. Source localization revealed that the conditioned neutral faces increased activity in the right fusiform gyrus (FG). This study also developed an efficient method for detecting implicit negative emotional responses to specific faces by using EEG signals. A classification method based on a support vector machine enables the easy classification of neutral faces that trigger specific individual emotions. In accordance with this classification, a face on a computer morphs into a sad or displeased countenance. The proposed method could be incorporated as a part of non-verbal communication tools to enable emotional expression.
C1 Univ Tokushima, Inst Technol & Sci, Tokushima 7708506, Japan.
RP Kashihara, K (reprint author), Univ Tokushima, Inst Technol & Sci, 2-1 Minamijyousanjima, Tokushima 7708506, Japan.
EM kashihara.koji@tokushima-u.ac.jp
FU Japan Society for the Promotion of Science (KAKENHI) [25330171]
FX This study was partially funded by a Grant-in-Aid for Scientific
Research (C) from Japan Society for the Promotion of Science (KAKENHI,
25330171). The author would like to thank Nagoya University and JST for
providing assistance during the EEG experiment.
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NR 56
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD AUG 26
PY 2014
VL 8
AR 244
DI 10.3389/fnins.2014.00244
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AW8LA
UT WOS:000346512100001
PM 25206321
ER
PT J
AU Rossignol, R
Ranchon-Cole, I
Paris, A
Herzine, A
Perche, A
Laurenceau, D
Bertrand, P
Cercy, C
Pichon, J
Mortaud, S
Briault, S
Menuet, A
Perche, O
AF Rossignol, Rafaelle
Ranchon-Cole, Isabelle
Paris, Arnaud
Herzine, Ameziane
Perche, Astrid
Laurenceau, David
Bertrand, Pauline
Cercy, Christine
Pichon, Jacques
Mortaud, Stephane
Briault, Sylvain
Menuet, Arnaud
Perche, Olivier
TI Visual Sensorial Impairments in Neurodevelopmental Disorders: Evidence
for a Retinal Phenotype in Fragile X Syndrome
SO PLOS ONE
LA English
DT Article
ID FMR1 KNOCKOUT MICE; MENTAL-RETARDATION PROTEIN; SYNDROME MOUSE MODEL;
RECEPTOR-DEPENDENT TRANSLATION; SYNAPTIC DEVELOPMENT;
SOCIAL-INTERACTION; RHODOPSIN CONTENT; DENDRITIC SPINES; AUTISM; PSD-95
AB Visual sensory impairments are common in Mental Deficiency (MD) and Autism Spectrum Disorder (ASD). These defects are linked to cerebral dysfunction in the visual cortical area characterized by the deregulation of axon growth/guidance and dendrite spine immaturity of neurons. However, visual perception had not been addressed, although the retina is part of the central nervous system with a common embryonic origin. Therefore, we investigated retinal perception, the first event of vision, in a murine model of MD with autistic features. We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome. Indeed, In Fmr1 KO mice had a lower retinal function characterized by a decreased photoreceptors neuron response, due to a 40% decrease in Rhodopsin content and to Rod Outer Segment destabilization. In addition, we observed an alteration of the visual signal transmission between photoreceptors and the inner retina which could be attributed to deregulations of pre- and post-synaptic proteins resulting in retinal neurons synaptic destabilization and to retinal neurons immaturity. Thus, for the first time, we demonstrated that retinal perception is altered in a murine model of MD with autistic features and that there are strong similarities between cerebral and retinal cellular and molecular defects. Our results suggest that both visual perception and integration must be taken into account in assessing visual sensory impairments in MD and ASD.
C1 [Rossignol, Rafaelle; Paris, Arnaud; Herzine, Ameziane; Pichon, Jacques; Mortaud, Stephane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier] CNRS, UMR7355, F-45071 Orleans, France.
[Rossignol, Rafaelle; Paris, Arnaud; Herzine, Ameziane; Pichon, Jacques; Mortaud, Stephane; Briault, Sylvain; Menuet, Arnaud; Perche, Olivier] Univ Orleans, Orleans, France.
[Perche, Astrid; Laurenceau, David; Briault, Sylvain; Perche, Olivier] Reg Hosp, Dept Genet, Orleans, France.
[Ranchon-Cole, Isabelle; Bertrand, Pauline; Cercy, Christine] Univ Clermont 1, Lab Sensorial Biophys, Clermont Ferrand, France.
RP Perche, O (reprint author), CNRS, UMR7355, F-45071 Orleans, France.
EM operche@cnrs-orleans.fr
FU CNRS; Regional Hospital of Orleans; University of Orleans; FEDER
[35106]; FRAXA Research Foundation
FX Research was supported by CNRS, Regional Hospital of Orleans, University
of Orleans, FEDER 35106, and FRAXA Research Foundation. The funders had
no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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NR 65
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 25
PY 2014
VL 9
IS 8
AR e105996
DI 10.1371/journal.pone.0105996
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN9TR
UT WOS:000340952200103
PM 25153086
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Dickerson, AS
Loveland, KA
Ardjomand-Hessabi, M
Bressler, J
Shakespeare-Pellington, S
Grove, ML
Pearson, DA
Boerwinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Dickerson, Aisha S.
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Bressler, Jan
Shakespeare-Pellington, Sydonnie
Grove, Megan L.
Pearson, Deborah A.
Boerwinkle, Eric
TI Blood manganese concentrations in Jamaican children with and without
autism spectrum disorders
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Manganese; Autism Spectrum Disorder; Neurodevelopment; Seafood;
Vegetables; Jamaica
ID HEAVY-METAL CONTAMINATION; DRINKING-WATER; SEAFOOD CONSUMPTION;
GENERAL-POPULATION; CHILDHOOD AUTISM; RISK-ASSESSMENT; EXPOSURE; AGE;
BIOMARKERS; HAIR
AB Background: Manganese is an essential element for human health and development. Previous studies have shown neurotoxic effects in children exposed to higher levels of manganese. Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that impairs social interaction and communication. Several studies have hypothesized that ASD is caused through environmental exposures during crucial stages in brain development. We investigated the possible association between blood manganese concentrations (BMC) and ASD. We also identified factors associated with BMC in typically developing (TD) Jamaican children.
Methods: We used data from 109 ASD cases with their 1:1 age- and sex-matched TD controls to compare mean BMC in Jamaican children (2-8 years of age) with and without ASD. We administered a pre-tested questionnaire to assess demographic and socioeconomic information, medical history, and potential exposure to manganese. Finally, we collected 2 mL of whole blood from each child for analysis of manganese levels. Using General Linear Models (GLM), we assessed the association between BMC and ASD status. Furthermore, we used two independent sample t-tests to identify factors associated with BMC in TD children.
Results: In univariable GLM analysis, we found no significant association between BMC and ASD, (10.9 mu g/L for cases vs. 10.5 mu g/L for controls; P = 0.29). In a multivariable GLM adjusting for paternal age, parental education, place of child's birth (Kingston parish), consumption of root vegetables, cabbage, saltwater fish, and cakes/buns, there was still no significant association between BMC and ASD status, (11.5 mu g/L for cases vs. 11.9 mu g/L for controls; P = 0.48). Our findings also indicated TD children who ate fresh water fish had a higher BMC than children who did not (11.0 mu g/L vs. 9.9 mu g/L; P = 0.03) as younger TD children (i.e., 2 <= age <= 4), (12.0 mu g/L vs. 10.2 mu g/L; P = 0.01).
Conclusions: While these results cannot be used to assess early exposure at potentially more susceptible time period, our findings suggest that there is no significant association between manganese exposures and ASD case status in Jamaica. Our findings also indicate that BMC in Jamaican children resemble those of children in the developed world and are much lower than those in the developing countries.
C1 [Rahbar, Mohammad H.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.] Univ Texas Med Sch Houston, Dept Internal Med, Div Clin & Translat Sci, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Dickerson, Aisha S.; Ardjomand-Hessabi, Manouchehr] Univ Texas Hlth Sci Ctr Houston, CCTS, Houston, TX 77030 USA.
[Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston, Jamaica.
[Loveland, Katherine A.; Pearson, Deborah A.] Univ Texas Med Sch Houston, Dept Psychiat & Behav Sci, Houston, TX 77054 USA.
[Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Human Genet Ctr, Houston, TX 77030 USA.
RP Rahbar, MH (reprint author), Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD); National Institutes of Health Fogarty International
Center (NIH-FIC) [R21HD057808]; National Institute of Environmental
Health Sciences (NIEHS) [R01ES022165]; NIH Centers for Translational
Science Award (NIH CTSA) [UL1 RR024148]; National Center for Research
Resources (NCRR); National Center for Advancing Translational Sciences
(NCATS) [UL1 TR000371]; Biostatistics/Epidemiology/Research Design
(BERD) component of the Center for Clinical and Translational Sciences
(CCTS)
FX This research is co-funded by the Eunice Kennedy Shriver National
Institute of Child Health and Human Development (NICHD) and the National
Institutes of Health Fogarty International Center (NIH-FIC) by a grant
[R21HD057808] as well as National Institute of Environmental Health
Sciences (NIEHS) by a grant [R01ES022165] awarded to University of Texas
Health Science Center at Houston. We also acknowledge the support
provided by the Biostatistics/Epidemiology/Research Design (BERD)
component of the Center for Clinical and Translational Sciences (CCTS)
for this project. CCTS is mainly funded by the NIH Centers for
Translational Science Award (NIH CTSA) grant (UL1 RR024148), awarded to
University of Texas Health Science Center at Houston in 2006 by the
National Center for Research Resources (NCRR) and its renewal (UL1
TR000371) by the National Center for Advancing Translational Sciences
(NCATS). The content is solely the responsibility of the authors and
does not necessarily represent the official views of the NICHD or the
NIH-FIC or NIEHS or the NCRR or the NCATS.
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NR 80
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-069X
J9 ENVIRON HEALTH-GLOB
JI Environ. Health
PD AUG 23
PY 2014
VL 13
AR 69
DI 10.1186/1476-069X-13-69
PG 14
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AP4KA
UT WOS:000342044400001
PM 25149876
ER
PT J
AU Gazzellone, MJ
Zhou, X
Lionel, AC
Uddin, M
Thiruvahindrapuram, B
Liang, S
Sun, CH
Wang, J
Zou, MY
Tammimies, K
Walker, S
Selvanayagam, T
Wei, J
Wang, ZZ
Wu, LJ
Scherer, SW
AF Gazzellone, Matthew J.
Zhou, Xue
Lionel, Anath C.
Uddin, Mohammed
Thiruvahindrapuram, Bhooma
Liang, Shuang
Sun, Caihong
Wang, Jia
Zou, Mingyang
Tammimies, Kristiina
Walker, Susan
Selvanayagam, Thanuja
Wei, John
Wang, Zhuozhi
Wu, Lijie
Scherer, Stephen W.
TI Copy number variation in Han Chinese individuals with autism spectrum
disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Copy number variations (CNVs);
Microarray diagnostic testing; Han Chinese
ID MILLER-DIEKER-SYNDROME; STRUCTURAL VARIATION; VARIANTS; GENES;
IDENTIFICATION; MICRODELETIONS; PHENOTYPES; MUTATIONS; DISCOVERY;
FAMILIES
AB Background: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background.
Methods: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity.
Results: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism.
Conclusions: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations.
C1 [Gazzellone, Matthew J.; Zhou, Xue; Lionel, Anath C.; Uddin, Mohammed; Thiruvahindrapuram, Bhooma; Tammimies, Kristiina; Walker, Susan; Selvanayagam, Thanuja; Wei, John; Wang, Zhuozhi; Scherer, Stephen W.] Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Ctr Appl Genom, Toronto, ON M5G 0A4, Canada.
[Gazzellone, Matthew J.; Zhou, Xue; Lionel, Anath C.; Uddin, Mohammed; Thiruvahindrapuram, Bhooma; Tammimies, Kristiina; Walker, Susan; Selvanayagam, Thanuja; Wei, John; Wang, Zhuozhi; Scherer, Stephen W.] Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Program Genet & Genome Biol, Toronto, ON M5G 0A4, Canada.
[Gazzellone, Matthew J.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada.
[Gazzellone, Matthew J.; Lionel, Anath C.; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5S 1A1, Canada.
[Zhou, Xue; Liang, Shuang; Sun, Caihong; Wang, Jia; Zou, Mingyang; Wu, Lijie] Harbin Med Univ, Dept Childrens & Adolescent Hlth, Coll Publ Hlth, Harbin 150086, Heilongjiang, Peoples R China.
[Zhou, Xue] Heilongjiang Prov Ctr Dis Control & Prevent, Harbin 150030, Heilongjiang, Peoples R China.
[Tammimies, Kristiina] Karolinska Inst, Dept Womens & Childrens Hlth, Ctr Neurodev Disorders, S-11330 Stockholm, Sweden.
RP Scherer, SW (reprint author), Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Ctr Appl Genom, 686 Bay St,Room 139800, Toronto, ON M5G 0A4, Canada.
EM stephen.scherer@sickkids.ca
RI Scherer, Stephen /B-3785-2013
OI Scherer, Stephen /0000-0002-8326-1999
FU Centre for Applied Genomics; University of Toronto McLaughlin Centre;
NeuroDevNet; Genome Canada; Ontario Genomics Institute [4445]; Canadian
Institutes for Health Research (CIHR) [FRN 74527, FRNXGG818]; Canadian
Institute for Advanced Research; Canada Foundation for Innovation;
Government of Ontario [GL2-01-013]; Ontario Brain Institute; Autism
Speaks; Ontario Graduate Scholarship; Frederick Banting and Charles Best
Canada Graduate Scholarship (CIHR-Masters)
FX The authors would like to thank Dr. Berivan Baskin and Dr. Peter Ray for
scientific advice, Hong Yang Chen for technical assistance, and The
Centre for Applied Genomics for support. This project was supported by
grants from the University of Toronto McLaughlin Centre, NeuroDevNet,
Genome Canada and the Ontario Genomics Institute (Project 4445), the
Canadian Institutes for Health Research (CIHR) (FRN 74527 and
FRNXGG818), the Canadian Institute for Advanced Research, the Canada
Foundation for Innovation, the Government of Ontario (GL2-01-013), the
Ontario Brain Institute, and Autism Speaks. MJG was supported by the
Ontario Graduate Scholarship and a Frederick Banting and Charles Best
Canada Graduate Scholarship (CIHR-Masters). SWS holds the
GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of
Toronto and the Hospital for Sick Children.
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NR 32
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 23
PY 2014
VL 6
AR 34
DI 10.1186/1866-1955-6-34
PG 7
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PJ
UT WOS:000341166900001
PM 25170348
ER
PT J
AU Fields, C
AF Fields, Chris
TI Motion, identity and the bias toward agency
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE analogy; causal reasoning; infant cognition; mirror neuron system;
structure mapping; systemizing
ID MIRROR NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; BIOLOGICAL MOTION;
SOCIAL BRAIN; OBJECT INDIVIDUATION; ATTENTIONAL ACCOUNT; INFANTS
PERCEPTION; PRESCHOOLERS USE; EPISODIC MEMORY; SEX-DIFFERENCES
AB The well-documented human bias toward agency as a cause and therefore an explanation of observed events is typically attributed to evolutionary selection for a "social brain". Based on a review of developmental and adult behavioral and neurocognitive data, it is argued that the bias toward agency is a result of the default human solution, developed during infancy, to the computational requirements of object re-identification over gaps in observation of more than a few seconds. If this model is correct, overriding the bias toward agency to construct mechanistic explanations of observed events requires structure-mapping inferences, implemented by the pre-motor action planning system, that replace agents with mechanisms as causes of unobserved changes in contextual or featural properties of objects. Experiments that would test this model are discussed.
C1 [Fields, Chris] New Mexico State Univ, Las Cruces, NM 88003 USA.
EM fieldsres@gmail.com
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NR 131
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 21
PY 2014
VL 8
AR 597
DI 10.3389/fnhum.2014.00597
PG 13
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN7YP
UT WOS:000340817200001
PM 25191245
ER
PT J
AU Hogan-Brown, AL
Hoedemaker, RS
Gordon, PC
Losh, M
AF Hogan-Brown, Abigail L.
Hoedemaker, Renske S.
Gordon, Peter C.
Losh, Molly
TI Eye-voice span during rapid automatized naming: evidence of reduced
automaticity in individuals with autism spectrum disorder and their
siblings
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Siblings; Language; Rapid automatized naming;
Eye tracking; Endophenotype
ID DYSLEXIA; CHILDREN; DEFICITS; DISABILITIES; FLUENCY; FAMILY; RISK; RAN
AB Background: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item's label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings.
Methods: Participants (aged 15-33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups.
Results: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions.
Conclusions: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD.
C1 [Hogan-Brown, Abigail L.; Losh, Molly] Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA.
[Hoedemaker, Renske S.; Gordon, Peter C.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA.
RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60208 USA.
EM m-losh@northwestern.edu
RI Hogan-Brown, Abigail/I-8091-2012
OI Hogan-Brown, Abigail/0000-0002-2913-7356
FU National Institute of Deafness and Other Communication Disorders
[R01DC010191, T32DC009399]
FX This study was supported by grants R01DC010191 and T32DC009399 from the
National Institute of Deafness and Other Communication Disorders. The
study sponsors had no role in the design and conduct of the study;
collection, management, analysis, and interpretation of the data;
preparation, review, or approval of the manuscript; and decision to
submit the manuscript for publication. We also acknowledge the support
of the Research Participant Registry Core of the Carolina Institute for
Developmental Disabilities (P30HD03110) for their role in participant
recruitment. The authors would like to thank Sejal Shah and Bret Kravis
for their assistance with data processing. The authors are also grateful
to the individuals and families who participated in this study.
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NR 39
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Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 21
PY 2014
VL 6
AR 33
DI 10.1186/1866-1955-6-33
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PI
UT WOS:000341166800001
PM 25177372
ER
PT J
AU James, WH
AF James, William H.
TI An update on the hypothesis that one cause of autism is high
intrauterine levels of testosterone of maternal origin
SO JOURNAL OF THEORETICAL BIOLOGY
LA English
DT Article
DE Sex ratio; Risk factors; Multifactorial threshold inheritance
ID MAMMALIAN SEX-RATIOS; PARENTAL HORMONE-LEVELS; 4TH DIGIT RATIO;
PERINATAL RISK-FACTORS; MALE BRAIN THEORY; SPECTRUM DISORDERS;
COMPREHENSIVE METAANALYSIS; GROWTH-RETARDATION; LIFE-STYLE; PREGNANCY
AB Baron-Cohen's hypothesis that autism is caused by exposure to high intrauterine testosterone levels is considered in the context of (1) my hormonal hypothesis of sex ratio and (2) the notion of multifactorial inheritance. This yields the suggestions that (1) female cases of autism may be the product of (high genetic loading+moderate environmental exposure) and male cases of (high environmental exposure+moderate genetic loading), (2) one environmental agent is intrauterine testosterone and (3) the mother is the major source of that testosterone. These suggestions may help to explain most of the major established epidemiological risk factors for autism. These include various forms of pathology associated with psychological and/or physical stress. Stress of many sorts promotes the secretion of adrenal androgens in women. The three suggestions above may also explain some recently described features of autism including the psychological, behavioural and neuroanatomical differences between male and female cases. (C) 2014 Elsevier Ltd. All rights reserved.
C1 UCL, Dept Genet Evolut & Environm, Galton Lab, London WC1 6BT, England.
RP James, WH (reprint author), UCL, Dept Genet Evolut & Environm, Galton Lab, Gower St, London WC1 6BT, England.
EM w.james@ucl.ac.uk
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NR 100
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0022-5193
EI 1095-8541
J9 J THEOR BIOL
JI J. Theor. Biol.
PD AUG 21
PY 2014
VL 355
BP 33
EP 39
DI 10.1016/j.jtbi.2014.03.036
PG 7
WC Biology; Mathematical & Computational Biology
SC Life Sciences & Biomedicine - Other Topics; Mathematical & Computational
Biology
GA AJ7GL
UT WOS:000337865100004
PM 24703983
ER
PT J
AU Righi, G
Tierney, AL
Tager-Flusberg, H
Nelson, CA
AF Righi, Giulia
Tierney, Adrienne L.
Tager-Flusberg, Helen
Nelson, Charles A.
TI Functional Connectivity in the First Year of Life in Infants at Risk for
Autism Spectrum Disorder: An EEG Study
SO PLOS ONE
LA English
DT Article
ID BRAIN; LANGUAGE; ACTIVATION; COHERENCE; CHILDREN; SPEECH;
UNDERCONNECTIVITY; REPRESENTATIONS; SYNCHRONIZATION; TODDLERS
AB In the field of autism research, recent work has been devoted to studying both behavioral and neural markers that may aide in early identification of autism spectrum disorder (ASD). These studies have often tested infants who have a significant family history of autism spectrum disorder, given the increased prevalence observed among such infants. In the present study we tested infants at high-and low-risk for ASD (based on having an older sibling diagnosed with the disorder or not) at 6-and 12-months-of-age. We computed intrahemispheric linear coherence between anterior and posterior sites as a measure of neural functional connectivity derived from electroencephalography while the infants were listening to speech sounds. We found that by 12-months-of-age infants at risk for ASD showed reduced functional connectivity compared to low risk infants. Moreover, by 12-months-of-age infants later diagnosed with ASD showed reduced functional connectivity, compared to both infants at low risk for the disorder and infants at high risk who were not later diagnosed with ASD. Significant differences in functional connectivity were also found between low-risk infants and high-risk infants who did not go onto develop ASD. These results demonstrate that reduced functional connectivity appears to be related to genetic vulnerability for ASD. Moreover, they provide further evidence that ASD is broadly characterized by differences in neural integration that emerge during the first year of life.
C1 [Righi, Giulia] Univ Massachusetts, Dept Psychol, Amherst, MA 01003 USA.
[Tierney, Adrienne L.] Harvard Univ, Harvard Coll Writing Program, Cambridge, MA 02138 USA.
[Tager-Flusberg, Helen] Boston Univ, Dept Psychol & Brain Sci, Boston, MA 02215 USA.
[Nelson, Charles A.] Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA.
[Nelson, Charles A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Nelson, Charles A.] Harvard Univ, Grad Sch Educ, Cambridge, MA 02138 USA.
RP Nelson, CA (reprint author), Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA.
EM charles_nelson@harvard.edu
FU National Institute on Deafness and Other Communication Disorders (NIDCD)
[R21 DC 08637]; Autism Speaks; NIDCD [RO1 DC 10290]; Simon's Foundation
FX Funding was provided by grant from National Institute on Deafness and
Other Communication Disorders (NIDCD) R21 DC 08637 and Autism Speaks to
HTF. Funding was provided by grant NIDCD RO1 DC 10290 and the Simon's
Foundation to CAN and HTF. The agencies/funders had NO role in design
data analysis or publication.
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NR 47
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 20
PY 2014
VL 9
IS 8
AR e105176
DI 10.1371/journal.pone.0105176
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3JB
UT WOS:000342687200057
PM 25140874
ER
PT J
AU Qureshi, AY
Mueller, S
Snyder, AZ
Mukherjee, P
Berman, JI
Roberts, TPL
Nagarajan, SS
Spiro, JE
Chung, WK
Sherr, EH
Buckner, RL
AF Qureshi, Abid Y.
Mueller, Sophia
Snyder, Abraham Z.
Mukherjee, Pratik
Berman, Jeffrey I.
Roberts, Timothy P. L.
Nagarajan, Srikantan S.
Spiro, John E.
Chung, Wendy K.
Sherr, Elliott H.
Buckner, Randy L.
CA Simons VIP Consortium
TI Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE 16p11.2; ASD; CNV; copy number variation; morphometry; structural MRI
ID AUTISM SPECTRUM DISORDER; SURFACE-BASED ANALYSIS; WHITE-MATTER; CORTICAL
THICKNESS; HEAD CIRCUMFERENCE; NORMAL INDIVIDUALS; COSTELLO SYNDROME;
HUMAN NEOCORTEX; CHILDREN; VOLUME
AB Deletions and duplications of the recurrent similar to 600 kb chromosomal BP4-BP5 region of 16p11.2 are associated with a broad variety of neurodevelopmental outcomes including autism spectrum disorder. A clue to the pathogenesis of the copy number variant (CNV)'s effect on the brain is that the deletion is associated with a head size increase, whereas the duplication is associated with a decrease. Here we analyzed brain structure in a clinically ascertained group of human deletion (N = 25) and duplication (N = 17) carriers from the Simons Variation in Individuals Project compared with age-matched controls (N = 29 and 33, respectively). Multiple brain measures showed increased size in deletion carriers and reduced size in duplication carriers. The effects spanned global measures of intracranial volume, brain size, compartmental measures of gray matter and white matter, subcortical structures, and the cerebellum. Quantitatively, the largest effect was on the thalamus, but the collective results suggest a pervasive rather than a selective effect on the brain. Detailed analysis of cortical gray matter revealed that cortical surface area displays a strong dose-dependent effect of CNV (deletion > control > duplication), whereas average cortical thickness is less affected. These results suggest that the CNV may exert its opposing influences through mechanisms that influence early stages of embryonic brain development.
C1 [Qureshi, Abid Y.; Buckner, Randy L.] Harvard Univ, Dept Psychol, Cambridge, MA 02138 USA.
[Qureshi, Abid Y.; Buckner, Randy L.] Harvard Univ, Ctr Brain Sci, Cambridge, MA 02138 USA.
[Qureshi, Abid Y.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.
[Buckner, Randy L.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Mueller, Sophia; Buckner, Randy L.] Massachusetts Gen Hosp, Dept Radiol, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
[Mueller, Sophia] Univ Munich, Inst Clin Radiol, D-81377 Munich, Germany.
[Snyder, Abraham Z.] Washington Univ, Sch Med St Louis, Dept Neurol, St Louis, MO 63110 USA.
[Snyder, Abraham Z.] Washington Univ, Sch Med St Louis, Dept Radiol, St Louis, MO 63110 USA.
[Mukherjee, Pratik; Nagarajan, Srikantan S.] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94158 USA.
[Sherr, Elliott H.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA.
[Berman, Jeffrey I.; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA.
[Spiro, John E.] Simons Fdn, New York, NY 10010 USA.
[Chung, Wendy K.] Columbia Univ, Med Ctr, Dept Pediat & Med, New York, NY 10032 USA.
RP Buckner, RL (reprint author), Harvard Univ, Northwest Bldg,Room 280-06,52 Oxford St, Cambridge, MA 02138 USA.
EM randy_buckner@harvard.edu
FU Simons Foundation (SFARI) [219193]; NIH/NINDS [5R25NS065743]
FX This work was supported by a Grant from the Simons Foundation (SFARI no.
219193 to R.B.). We thank all of the families at the participating
Simons Variation in Individuals Project (VIP) sites, as well as the
Simons VIP Consortium. We appreciate obtaining access to phenotypic data
on SFARI Base. Approved researchers can obtain the Simons VIP population
dataset described in this study by contacting the Simons Foundation
Autism Research Initiative. A.Q. was supported by NIH/NINDS
5R25NS065743. We thank Avram Holmes for helpful advice on data analysis
and Dr Nicholas Katsanis for insightful discussion.
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NR 63
TC 6
Z9 6
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11199
EP 11211
DI 10.1523/JNEUROSCI.1366-14.2014
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600005
PM 25143601
ER
PT J
AU Diehl, MM
Romanski, LM
AF Diehl, Maria M.
Romanski, Lizabeth M.
TI Responses of Prefrontal Multisensory Neurons to Mismatching Faces and
Vocalizations
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE communication; faces; multisensory integration; prefrontal cortex;
primate; vocalizations
ID AUTISM SPECTRUM DISORDERS; SUPERIOR TEMPORAL SULCUS; CROSS-MODAL
INTEGRATION; AUDITORY-CORTEX; RHESUS-MONKEY; AUDIOVISUAL SPEECH;
FRONTAL-CORTEX; FACIAL EXPRESSIONS; VISUAL INFORMATION; MACAQUE MONKEYS
AB Social communication relies on the integration of auditory and visual information, which are present in faces and vocalizations. Evidence suggests that the integration of information from multiple sources enhances perception compared with the processing of a unimodal stimulus. Our previous studies demonstrated that single neurons in the ventrolateral prefrontal cortex (VLPFC) of the rhesus monkey (Macaca mulatta) respond to and integrate conspecific vocalizations and their accompanying facial gestures. We were therefore interested in how VLPFC neurons respond differentially to matching (congruent) and mismatching (incongruent) faces and vocalizations. We recorded VLPFC neurons during the presentation of movies with congruent or incongruent species-specific facial gestures and vocalizations as well as their unimodal components. Recordings showed that while many VLPFC units are multisensory and respond to faces, vocalizations, or their combination, a subset of neurons showed a significant change in neuronal activity in response to incongruent versus congruent vocalization movies. Among these neurons, we typically observed incongruent suppression during the early stimulus period and incongruent enhancement during the late stimulus period. Incongruent-responsive VLPFC neurons were both bimodal and nonlinear multisensory, fostering their ability to respond to changes in either modality of a face-vocalization stimulus. These results demonstrate that ventral prefrontal neurons respond to changes in either modality of an audiovisual stimulus, which is important in identity processing and for the integration of multisensory communication information.
C1 [Diehl, Maria M.] Univ Puerto Rico, Sch Med, Dept Psychiat, San Juan, PR 00936 USA.
[Romanski, Lizabeth M.] Univ Rochester, Sch Med & Dent, Dept Neurobiol & Anat, Rochester, NY 14642 USA.
RP Romanski, LM (reprint author), Univ Rochester, Sch Med, Dept Neurobiol & Anat, Rochester, NY 14642 USA.
EM Liz_romanski@urmc.rochester.edu
FU National Institutes of Health [DC004845]; Center for Navigation and
Communication Sciences [(P30) DC 005409]; Center for Visual Sciences
[(P30) EY001319]
FX This work was supported by the National Institutes of Health DC004845
(L.M.R.), Center for Navigation and Communication Sciences (P30) DC
005409, and Center for Visual Sciences (P30) EY001319. We thank Mark
Diltz, Jaewon Hwang, John Housel, and Christopher Louie for technical
assistance and Bethany Plakke for critical comments.
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NR 62
TC 2
Z9 2
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11233
EP 11243
DI 10.1523/JNEUROSCI.5168-13.2014
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600009
PM 25143605
ER
PT J
AU Demyanenko, GP
Mohan, V
Zhang, XY
Brennaman, LH
Dharbal, KES
Tran, TS
Manis, PB
Maness, PF
AF Demyanenko, Galina P.
Mohan, Vishwa
Zhang, Xuying
Brennaman, Leann H.
Dharbal, Katherine E. S.
Tran, Tracy S.
Manis, Paul B.
Maness, Patricia F.
TI Neural Cell Adhesion Molecule NrCAM Regulates Semaphorin 3F-Induced
Dendritic Spine Remodeling
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE cell adhesion; cortical pyramidal neurons; NrCAM; semaphorin; spine
morphogenesis; visual cortex
ID PRIMARY VISUAL-CORTEX; AUTISM SPECTRUM DISORDERS; NR-CAM; HOMOPHILIC
INTERACTION; THALAMOCORTICAL AXONS; FUNCTIONAL PLASTICITY; ASSOCIATION
ANALYSIS; MOUSE; EXPERIENCE; BRAIN
AB Neuron-glial related cell adhesion molecule (NrCAM) is a regulator of axon growth and repellent guidance, and has been implicated in autism spectrum disorders. Here a novel postsynaptic role for NrCAM in Semaphorin3F (Sema3F)-induced dendritic spine remodeling was identified in pyramidal neurons of the primary visual cortex (V1). NrCAM localized to dendritic spines of star pyramidal cells in postnatal V1, where it was coexpressed with Sema3F. NrCAM deletion in mice resulted in elevated spine densities on apical dendrites of star pyramidal cells at both postnatal and adult stages, and electron microscopy revealed increased numbers of asymmetric synapses in layer 4 of V1. Whole-cell recordings in cortical slices from NrCAM-null mice revealed increased frequency of mEPSCs in star pyramidal neurons. Recombinant Sema3F-Fc protein induced spine retraction on apical dendrites of wild-type, but not NrCAM-null cortical neurons in culture, while re-expression ofNrCAM rescued the spine retraction response. NrCAM formed a complex in brain with Sema3F receptor subunits Neuropilin-2 (Npn-2) and PlexinA3 (PlexA3) through an Npn-2-binding sequence (TARNER) in the extracellular Igl domain. A trans heterozygous genetic interaction test demonstrated that Sema3F and NrCAM pathways interacted in vivo to regulate spine density in star pyramidal neurons. These findings reveal NrCAM as a novel postnatal regulator of dendritic spine density in cortical pyramidal neurons, and an integral component of the Sema3F receptor complex. The results implicate NrCAM as a contributor to excitatory/inhibitory balance in neocortical circuits.
C1 [Demyanenko, Galina P.; Mohan, Vishwa; Zhang, Xuying; Brennaman, Leann H.; Dharbal, Katherine E. S.; Maness, Patricia F.] Univ N Carolina, Sch Med, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA.
[Manis, Paul B.] Univ N Carolina, Sch Med, Dept Otolaryngol Head & Neck Surg, Chapel Hill, NC 27599 USA.
[Manis, Paul B.] Univ N Carolina, Sch Med, Dept Cell & Mol Physiol, Chapel Hill, NC 27599 USA.
[Tran, Tracy S.] Rutgers State Univ, Dept Biol Sci, Newark, NJ 07102 USA.
RP Maness, PF (reprint author), Univ N Carolina, Sch Med, Dept Biochem & Biophys, Campus Box 7260, Chapel Hill, NC 27599 USA.
EM srclab@med.unc.edu
FU National Institutes of Health (NIH) [R21MH098138, R01MH101605]; Charles
and Johanna Busch Biomedical Award; University of North Carolina (UNC)
[NIH P30NS045892]
FX This work was supported by National Institutes of Health (NIH) grants
R21MH098138 and R01MH101605 (P.F.M.) and R01DC009809 (P.B.M.), Charles
and Johanna Busch Biomedical Award (T.S.T.), and NIH P30NS045892 for
University of North Carolina (UNC) Neuroscience Research Center core
support. We gratefully acknowledge Dirk Montag (Leibniz Institute for
Neurobiology, Magdeburg, Germany) for the NrCAM plasmid, Takeshi Sakurai
and Carol Mason (Columbia University) for probes, Alex Kolodkin and
David Ginty for Sema3F mice and probes, and Ben Philpot and Thorfinn
Riday (UNC Chapel Hill) for advice on monocular deprivation. We are also
grateful to Sam George, Eli Darnell, Jasbir Dalal, Sneha Venkatramen,
and Erin Moore for experimental assistance.
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NR 78
TC 0
Z9 0
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD AUG 20
PY 2014
VL 34
IS 34
BP 11274
EP 11287
DI 10.1523/JNEUROSCI.1774-14.2014
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AO4MI
UT WOS:000341312600012
PM 25143608
ER
PT J
AU Matthes, M
Preusse, M
Zhang, JZ
Schechter, J
Mayer, D
Lentes, B
Theis, F
Prakash, N
Wurst, W
Trumbach, D
AF Matthes, Michaela
Preusse, Martin
Zhang, Jingzhong
Schechter, Julia
Mayer, Daniela
Lentes, Bernd
Theis, Fabian
Prakash, Nilima
Wurst, Wolfgang
Truembach, Dietrich
TI Mouse IDGenes: a reference database for genetic interactions in the
developing mouse brain
SO DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
LA English
DT Article
ID DOPAMINE NEURON DEVELOPMENT; SEGMENT POLARITY NETWORK; BETA-CATENIN;
EXPRESSION PATTERNS; HINDBRAIN MALFORMATIONS; SIGNALING PATHWAY; ISTHMIC
ORGANIZER; WNT/BETA-CATENIN; SPINAL-CORD; CYCLIN D1
AB The study of developmental processes in the mouse and other vertebrates includes the understanding of patterning along the anterior-posterior, dorsal-ventral and medial-lateral axis. Specifically, neural development is also of great clinical relevance because several human neuropsychiatric disorders such as schizophrenia, autism disorders or drug addiction and also brain malformations are thought to have neurodevelopmental origins, i.e. pathogenesis initiates during childhood and adolescence. Impacts during early neurodevelopment might also predispose to late-onset neurodegenerative disorders, such as Parkinson's disease. The neural tube develops from its precursor tissue, the neural plate, in a patterning process that is determined by compartmentalization into morphogenetic units, the action of local signaling centers and a well-defined and locally restricted expression of genes and their interactions. While public databases provide gene expression data with spatio-temporal resolution, they usually neglect the genetic interactions that govern neural development. Here, we introduce Mouse IDGenes, a reference database for genetic interactions in the developing mouse brain. The database is highly curated and offers detailed information about gene expressions and the genetic interactions at the developing mid-/hindbrain boundary. To showcase the predictive power of interaction data, we infer new Wnt/beta-catenin target genes by machine learning and validate one of them experimentally. The database is updated regularly. Moreover, it can easily be extended by the research community. Mouse IDGenes will contribute as an important resource to the research on mouse brain development, not exclusively by offering data retrieval, but also by allowing data input.
C1 [Matthes, Michaela; Zhang, Jingzhong; Schechter, Julia; Mayer, Daniela; Lentes, Bernd; Prakash, Nilima; Wurst, Wolfgang; Truembach, Dietrich] German Res Ctr Environm Hlth, Inst Dev Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Matthes, Michaela] Tech Univ Munchen Weihenstephan, Lehrstuhl Genet, D-85354 Freising Weihenstephan, Germany.
[Preusse, Martin] German Res Ctr Environm Hlth, Inst Diabet & Regenerat Res, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Preusse, Martin; Theis, Fabian] German Res Ctr Environm Hlth, Inst Computat Biol, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany.
[Theis, Fabian] Tech Univ Munich, Zentrum Math, D-85747 Garching, Germany.
[Wurst, Wolfgang; Truembach, Dietrich] Max Planck Inst Psychiat, D-80804 Munich, Germany.
[Wurst, Wolfgang] Deutsch Zentrum Neurodegenerat Erkrankungen eV DZ, Standort Munchen, D-80336 Munich, Germany.
[Wurst, Wolfgang] Tech Univ Munchen Weihenstephan, Helmholtz Zentrum Munchen, Lehrstuhl Entwicklungsgenet, D-85764 Neuherberg, Germany.
[Wurst, Wolfgang] Univ Munich, Adolf Butenandt Inst, Munich Cluster Syst Neurol SyNergy, D-80336 Munich, Germany.
RP Trumbach, D (reprint author), German Res Ctr Environm Hlth, Inst Dev Genet, Helmholtz Zentrum Munchen, Ingolstadter Landstr 1, D-85764 Neuherberg, Germany.
EM nilima.prakash@helmholtz-muenchen.de; wurst@helmholtz-muenchen.de;
dietrich.truembach@helmholtz-muenchen.de
FU EU [FP7-Health-F4-2010-242129]; 'Bundesministerium fur Bildung und
Forschung' in the consortium 'From Disease Genes to Protein Pathways'
[FKZ01GS0858]; Helmholtz Zentrum Munchen - Deutsches Forschungszentrum
fur Gesundheit und Umwelt (HMGU); 'Deutsche Forschungsgemeinschaft'
('German Research Foundation') [EXC 1010]
FX The 'Deutsche Forschungsgemeinschaft' ('German Research Foundation')
within the framework of the Munich Cluster for Systems Neurology EXC
1010 SyNergy]; the EU grant 'Systems Biology of Stem Cells and
Reprogramming' [FP7-Health-F4-2010-242129]; the 'Bundesministerium fur
Bildung und Forschung' in the consortium 'From Disease Genes to Protein
Pathways' [FKZ01GS0858]. Funding for open access charge: Helmholtz
Zentrum Munchen - Deutsches Forschungszentrum fur Gesundheit und Umwelt
(HMGU).
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NR 70
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1758-0463
J9 DATABASE-OXFORD
JI Database
PD AUG 20
PY 2014
AR bau083
DI 10.1093/database/bau083
PG 16
WC Mathematical & Computational Biology
SC Mathematical & Computational Biology
GA AN5KF
UT WOS:000340628900001
ER
PT J
AU Krawczyk, DC
Kandalaft, MR
Didehbani, N
Allen, TT
McClelland, MM
Tamminga, CA
Chapman, SB
AF Krawczyk, Daniel C.
Kandalaft, Michelle R.
Didehbani, Nyaz
Allen, Tandra T.
McClelland, M. Michelle
Tamminga, Carol A.
Chapman, Sandra B.
TI An investigation of reasoning by analogy in schizophrenia and autism
spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE analogy; reasoning; schizophrenia; autism spectrum disorder; distraction
ID HIGH-FUNCTIONING AUTISM; WORKING-MEMORY; PREFRONTAL CORTEX; RELATIONAL
INTEGRATION; ASPERGERS SYNDROME; SOCIAL COGNITION; MORAL JUDGMENT;
SIMILARITY; MIND; CHILDREN
AB Relational reasoning ability relies upon by both cognitive and social factors. We compared analogical reasoning performance in healthy controls (HC) to performance in individuals with Autism Spectrum Disorder (ASD), and individuals with schizophrenia (SZ). The experimental task required participants to find correspondences between drawings of scenes. Participants were asked to infer which item within one scene best matched a relational item within the second scene. We varied relational complexity, presence of distraction, and type of objects in the analogies (living or non-living items). We hypothesized that the cognitive differences present in SZ would reduce relational inferences relative to ASD and HC. We also hypothesized that both SZ and ASD would show lower performance on living item problems relative to HC due to lower social function scores. Overall accuracy was higher for HC relative to SZ, consistent with prior research. Across groups, higher relational complexity reduced analogical responding, as did the presence of non-living items. Separate group analyses revealed that the ASD group was less accurate at making relational inferences in problems that involved mainly non-living items and when distractors were present. The SZ group showed differences in problem type similar to the ASD group. Additionally, we found significant correlations between social cognitive ability and analogical reasoning, particularly for the SZ group. These results indicate that differences in cognitive and social abilities impact the ability to infer analogical correspondences along with numbers of relational elements and types of objects present in the problems.
C1 [Krawczyk, Daniel C.; Kandalaft, Michelle R.; Didehbani, Nyaz; Allen, Tandra T.; McClelland, M. Michelle; Chapman, Sandra B.] Univ Texas Dallas, Sch Behav & Brain Sci, Ctr BrainHlth, Dallas, TX 75235 USA.
[Krawczyk, Daniel C.; Kandalaft, Michelle R.; Tamminga, Carol A.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
RP Krawczyk, DC (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Ctr BrainHlth, 2200 Mockingbird Lane, Dallas, TX 75235 USA.
EM daniel.krawczyk@utdallas.edu
FU Lattner Foundation; Crystal Charity Ball; Wacker Foundation
FX We thank Lindsey Richland for contributions to the development of the
task. We also thank Greg Allen, Candace Mills, Mujeeb Shad, Mette
Posamentier, Jim Bartlett, and John Hart for helpful comments and
suggestions. We thank Anne Marie Preston, Cassandra Adams, and Karen
Osborne for their contributions to the data collection and
neuropsychological testing. This work was supported by funding from the
Lattner Foundation, Crystal Charity Ball, and the Wacker Foundation.
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NR 63
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 20
PY 2014
VL 8
AR 517
DI 10.3389/fnhum.2014.00517
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6YY
UT WOS:000340746100001
PM 25191240
ER
PT J
AU Germain, ND
Chen, PF
Plocik, AM
Glatt-Deeley, H
Brown, J
Fink, JJ
Bolduc, KA
Robinson, TM
Levine, ES
Reiter, LT
Graveley, BR
Lalande, M
Chamberlain, SJ
AF Germain, Noelle D.
Chen, Pin-Fang
Plocik, Alex M.
Glatt-Deeley, Heather
Brown, Judith
Fink, James J.
Bolduc, Kaitlyn A.
Robinson, Tiwanna M.
Levine, Eric S.
Reiter, Lawrence T.
Graveley, Brenton R.
Lalande, Marc
Chamberlain, Stormy J.
TI Gene expression analysis of human induced pluripotent stem cell-derived
neurons carrying copy number variants of chromosome 15q11-q13.1
SO MOLECULAR AUTISM
LA English
DT Article
DE UBE3A; autism; induced pluripotent stem cells; 15q duplication; Angelman
syndrome
ID METHYLATION-SPECIFIC PCR; ANGELMAN SYNDROME; PRADER-WILLI; 15Q
DUPLICATION; HUMAN GENOME; AUTISM; PROTEIN; MITHRAMYCIN; BRAIN;
TRANSCRIPTION
AB Background: Duplications of the chromosome 15q11-q13.1 region are associated with an estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the most frequent chromosome abnormalities associated with autism spectrum disorder (ASD). Several genes located within the 15q11-q13.1 duplication region including ubiquitin protein ligase E3A (UBE3A), the gene disrupted in Angelman syndrome (AS), are involved in neural function and may play important roles in the neurobehavioral phenotypes associated with chromosome 15q11-q13.1 duplication (Dup15q) syndrome.
Methods: We have generated induced pluripotent stem cell (iPSC) lines from five different individuals containing CNVs of 15q11-q13.1. The iPSC lines were differentiated into mature, functional neurons. Gene expression across the 15q11-q13.1 locus was compared among the five iPSC lines and corresponding iPSC-derived neurons using quantitative reverse transcription PCR (qRT-PCR). Genome-wide gene expression was compared between neurons derived from three iPSC lines using mRNA-Seq.
Results: Analysis of 15q11-q13.1 gene expression in neurons derived from Dup15q iPSCs reveals that gene copy number does not consistently predict expression levels in cells with interstitial duplications of 15q11-q13.1. mRNA-Seq experiments show that there is substantial overlap in the genes differentially expressed between 15q11-q13.1 deletion and duplication neurons, Finally, we demonstrate that UBE3A transcripts can be pharmacologically rescued to normal levels in iPSC-derived neurons with a 15q11-q13.1 duplication.
Conclusions: Chromatin structure may influence gene expression across the 15q11-q13.1 region in neurons. Genome-wide analyses suggest that common neuronal pathways may be disrupted in both the Angelman and Dup15q syndromes. These data demonstrate that our disease-specific stem cell models provide a new tool to decipher the underlying cellular and genetic disease mechanisms of ASD and may also offer a pathway to novel therapeutic intervention in Dup15q syndrome.
C1 [Germain, Noelle D.; Chen, Pin-Fang; Plocik, Alex M.; Glatt-Deeley, Heather; Graveley, Brenton R.; Lalande, Marc; Chamberlain, Stormy J.] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06032 USA.
[Brown, Judith] Univ Connecticut, Dept Mol & Cell Biol, Chromosome Core, Storrs, CT 06269 USA.
[Brown, Judith] Univ Connecticut, Dept Allied Hlth Sci, Storrs, CT 06269 USA.
[Fink, James J.; Bolduc, Kaitlyn A.; Robinson, Tiwanna M.; Levine, Eric S.] Univ Connecticut, Ctr Hlth, Dept Neurosci, Farmington, CT 06030 USA.
[Reiter, Lawrence T.] Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA.
[Graveley, Brenton R.] Univ Connecticut, Inst Syst Genom, Farmington, CT 06030 USA.
RP Chamberlain, SJ (reprint author), Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, 400 Farmington Ave, Farmington, CT 06032 USA.
EM chamberlain@uchc.edu
FU NIH/NICHD [5R01HD068730-02]; Raymond and Beverly Sackler Foundation;
Prutting fund; Autism Speaks
FX The authors would like to thank the members of the Chamberlain, Lalande,
Graveley, and Levine labs for helpful discussions. This work was funded
by NIH/NICHD grant 5R01HD068730-02 (S.J.C), the Raymond and Beverly
Sackler Foundation (S.J.C), the Prutting fund (M.L.), and Autism Speaks
(E.S.L.).
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NR 54
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD AUG 20
PY 2014
VL 5
AR 44
DI 10.1186/2040-2392-5-44
PG 19
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NB
UT WOS:000341159400001
PM 25694803
ER
PT J
AU Gogolla, N
Takesian, AE
Feng, G
Fagiolini, M
Hensch, TK
AF Gogolla, Nadine
Takesian, Anne E.
Feng, Guoping
Fagiolini, Michela
Hensch, Takao K.
TI Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit
Maturation
SO NEURON
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PLUS TF/J MICE; CRITICAL-PERIOD;
VISUAL-CORTEX; MULTISENSORY INTEGRATION; GASTROINTESTINAL PROBLEMS;
FUNCTIONAL CONNECTIVITY; NEURAL SYSTEMS; AUDITORY FIELD; MUTANT MICE
AB Insular cortex (IC) contributes to a variety of complex brain functions, such as communication, social behavior, and self-awareness through the integration of sensory, emotional, and cognitive content. How the IC acquires its integrative properties remains unexplored. We compared the emergence of multisensory integration (MSI) in the IC of behaviorally distinct mouse strains. While adult C57BL/6 mice exhibited robust MSI, this capacity was impaired in the inbred BTBR T+tf/J mouse model of idiopathic autism. The deficit reflected weakened gamma-aminobutyric acid (GABA) circuits and compromised postnatal pruning of cross-modal input. Transient pharmacological enhancement by diazepam in BTBR mice during an early sensitive period rescued inhibition and integration in the adult IC. Moreover, impaired MSI was common across three other monogenic models (GAD65, Shank3, and Mecp2 knockout mice) displaying behavioral phenotypes and parvalbumin-circuit abnormalities. Our findings offer developmental insight into a key neural circuit relevant to neuropsychiatric conditions like schizophrenia and autism.
C1 [Gogolla, Nadine; Hensch, Takao K.] Harvard Univ, Dept Mol & Cellular Biol, Ctr Brain Sci, Cambridge, MA 02138 USA.
[Takesian, Anne E.; Fagiolini, Michela; Hensch, Takao K.] Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol,FM Kirby Neurobiol Ctr, Boston, MA 02115 USA.
[Takesian, Anne E.; Hensch, Takao K.] Canadian Inst Adv Res, Toronto, ON M5G 1Z8, Canada.
[Feng, Guoping] MIT, McGovern Inst Brain Res, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
RP Hensch, TK (reprint author), Harvard Univ, Dept Mol & Cellular Biol, Ctr Brain Sci, 52 Oxford St, Cambridge, MA 02138 USA.
EM hensch@mcb.harvard.edu
FU National Institute of General Medical Sciences (NIGMS) [DP1OD003699];
National Institute of Mental Health (NIMH) [1P50MH094271]; Human
Frontier Science Program (HFSP); Charles King Trust/Charles Hood
Foundation; Nancy Lurie Marks Foundation
FX We thank M. Nakamura for animal care, M. Ho for help with behavioral
tests and T. K. H. laboratory members for feedback and discussion.
Funded by the National Institute of General Medical Sciences (NIGMS)
(DP1OD003699 to T. K. H.) and the National Institute of Mental Health
(NIMH) (1P50MH094271 to T. K. H.), as well as postdoctoral fellowships
from the Human Frontier Science Program (HFSP) and Charles King
Trust/Charles Hood Foundation (to N.G.) and the Nancy Lurie Marks
Foundation (to A.E.T.).
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NR 70
TC 10
Z9 10
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD AUG 20
PY 2014
VL 83
IS 4
BP 894
EP 905
DI 10.1016/j.neuron.2014.06.033
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AN3ID
UT WOS:000340479600016
PM 25088363
ER
PT J
AU Clark, CM
Chiu, CG
Diaz, RL
Goghari, VM
AF Clark, Cameron M.
Chiu, Carina G.
Diaz, Ruth L.
Goghari, Vina M.
TI Intact anger recognition in depression despite aberrant visual facial
information usage
SO JOURNAL OF AFFECTIVE DISORDERS
LA English
DT Article
DE Depression; Anxiety; Anger; Emotion recognition; Bubbles task
ID MAJOR DEPRESSION; EMOTION PERCEPTION; AMYGDALA DAMAGE; EXPRESSION;
DISORDER; SCHIZOPHRENIA; BUBBLES; MEMORY; DEFICITS; ANXIETY
AB Background: Previous literature has indicated abnormalities in facial emotion recognition abilities, as well as deficits in basic visual processes in major depression. However, the literature is unclear on a number of important factors including whether or not these abnormalities represent deficient or enhanced emotion recognition abilities compared to control populations, and the degree to which basic visual deficits might impact this process.
Methods: The present study investigated emotion recognition abilities for angry versus neutral facial expressions in a sample of undergraduate students with Beck Depression Inventory-II (BDI-II) scores indicative of moderate depression (i.e. >= 20), compared to matched low-BDI-II score (i.e. <= 2) controls via the Bubbles Facial Emotion Perception Task.
Results: Results indicated unimpaired behavioural performance in discriminating angry from neutral expressions in the high depressive symptoms group relative to the minimal depressive symptoms group, despite evidence of an abnormal pattern of visual facial information usage.
Limitations: The generalizability of the current findings is limited by the highly structured nature of the facial emotion recognition task used, as well as the use of an analog sample undergraduates scoring high in self-rated symptoms of depression rather than a clinical sample.
Conclusions: Our findings suggest that basic visual processes are involved in emotion recognition abnormalities in depression, demonstrating consistency with the emotion recognition literature in other psychopathologies (e.g. schizophrenia, autism, social anxiety). Future research should seek to replicate these findings in clinical populations with major depression, and assess the association between aberrant face gaze behaviours and symptom severity and social functioning. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Clark, Cameron M.; Chiu, Carina G.; Diaz, Ruth L.; Goghari, Vina M.] Univ Calgary, Dept Psychol, Calgary, AB T2N 1N4, Canada.
RP Goghari, VM (reprint author), Univ Calgary, Dept Psychol, 2500 Univ Dr NW, Calgary, AB T2N 1N4, Canada.
EM vmgoghar@ucalgary.ca
FU Canadian Institutes of Health Research; University of Calgary;
University Research Grant Committee; Canada Vanier Graduate Scholarship;
Alberta Innovates Health Solutions studentship; Canadian Institutes of
Health Research New Investigator Award
FX We thank Frederic Gosselin for sharing his Bubbles task with our
research group. Data collection was supported by a Canadian Institutes
of Health Research operating grant, a University of Calgary Seed Grant,
and a University Research Grant Committee Starter Grant. Cameron M.
Clark was supported by a Canada Vanier Graduate Scholarship, as well as
an Alberta Innovates Health Solutions studentship. Vina Goghari was
supported by a Canadian Institutes of Health Research New Investigator
Award.
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NR 44
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0327
EI 1573-2517
J9 J AFFECT DISORDERS
JI J. Affect. Disord.
PD AUG 20
PY 2014
VL 165
BP 196
EP 202
DI 10.1016/j.jad.2014.04.065
PG 7
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AJ7FF
UT WOS:000337861900031
PM 24882200
ER
PT J
AU Sundquist, J
Sundquist, K
Ji, JG
AF Sundquist, Jan
Sundquist, Kristina
Ji, Jianguang
TI Autism and attention-deficit/hyperactivity disorder among individuals
with a family history of alcohol use disorders
SO ELIFE
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; AGE; DISEASE; RISK; PREVALENCE;
REGISTER; EXPOSURE; CHILDREN; TRENDS
AB Recent studies suggest de novo mutations may involve the pathogenesis of autism and attention-deficit/hyperactivity disorder (ADHD). Based on the evidence that excessive alcohol consumption may be associated with an increased rate of de novo mutations in germ cells (sperms or eggs), we examine here whether the risks of autism and ADHD are increased among individuals with a family history of alcohol use disorders (AUDs). The standardized incidence ratios (SIRs) of autism and ADHD among individuals with a biological parental history of AUDs were 1.39 (95% CI 1.34-1.44) and 2.19 (95% CI 2.15-2.23), respectively, compared to individuals without an affected parent. Among offspring whose parents were diagnosed with AUDs before their birth, the corresponding risks were 1.46 (95% CI 1.36-1.58) and 2.70 (95% CI 2.59-2.81), respectively. Our study calls for extra surveillance for children with a family history of AUDs, and further studies examining the underlying mechanisms are needed.
C1 [Sundquist, Jan; Sundquist, Kristina; Ji, Jianguang] Lund Univ, Ctr Primary Hlth Care Res, Malmo, Sweden.
[Sundquist, Jan; Sundquist, Kristina] Stanford Univ, Sch Med, Stanford Prevent Res Ctr, Stanford, CA USA.
RP Sundquist, J (reprint author), Lund Univ, Ctr Primary Hlth Care Res, Malmo, Sweden.
EM sundquist@med.lu.se; jianguang.ji@med.lu.se
RI Ji, Jianguang/E-9579-2011
OI Ji, Jianguang/0000-0003-0324-9496
FU Vetenskapsradet [2012-2378]; National Institute of Drug Abuse [R01
DA030005]
FX Vetenskapsradet 2012-2378 Jan SundquistNational Institute of Drug Abuse
R01 DA030005 Jan SundquistThe funders had no role in study design, data
collection and interpretation, or the decision to submit the work for
publication.
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PU ELIFE SCIENCES PUBLICATIONS LTD
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PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND
SN 2050-084X
J9 ELIFE
JI eLife
PD AUG 19
PY 2014
VL 3
AR e02917
DI 10.7554/eLife.02917
PG 8
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AO3RU
UT WOS:000341253500002
PM 25139954
ER
PT J
AU Takeuchi, H
Taki, Y
Sekiguchi, A
Nouchi, R
Kotozaki, Y
Nakagawa, S
Miyauchi, CM
Iizuka, K
Yokoyama, R
Shinada, T
Yamamoto, Y
Hanawa, S
Araki, T
Hashizume, H
Sassa, Y
Kawashima, R
AF Takeuchi, Hikaru
Taki, Yasuyuki
Sekiguchi, Atsushi
Nouchi, Rui
Kotozaki, Yuka
Nakagawa, Seishu
Miyauchi, Carlos M.
Iizuka, Kunio
Yokoyama, Ryoichi
Shinada, Takamitsu
Yamamoto, Yuki
Hanawa, Sugiko
Araki, Tsuyoshi
Hashizume, Hiroshi
Sassa, Yuko
Kawashima, Ryuta
TI Creativity measured by divergent thinking is associated with two axes of
autistic characteristics
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE creativity; divergent thinking; empathizing; systemizing; D score;
autistic characteristics
ID FALSE DISCOVERY RATE; VOXEL-BASED MORPHOMETRY; HIGH-FUNCTIONING AUTISM;
WHITE-MATTER STRUCTURES; NORMAL SEX-DIFFERENCES; EMPATHY QUOTIENT EQ;
SYSTEMATIZING QUOTIENT; ASPERGER-SYNDROME; EMOTIONAL INTELLIGENCE;
EXECUTIVE FUNCTION
AB Creativity generally involves the conception of original and valuable ideas, and it plays a key role in scientific achievement. Moreover, individuals with autistic spectrum conditions (ASCs) tend to achieve in scientific fields. Recently, it has been proposed that low empathizing and high systemizing characterize individuals with ASCs. Empathizing is the drive to identify the mental status of other individuals and respond to it with an appropriate emotion; systemizing is the drive to analyze a system. It has been proposed that this higher systemizing underlies the scientific achievement of individuals with ASCs, suggesting the possible positive association between creativity and systemizing. However, previous findings on the association between ASCs and creativity were conflicting. Conversely, previous studies have suggested an association between prosocial traits and creativity, indicating the possible association between empathizing and creativity. Here we investigated the association between creativity measured by divergent thinking (CDT) and empathizing, systemizing, and the discrepancy between systemizing and empathizing, which is called D score. CDT was measured using the S-A creativity test. The individual degree of empathizing (empathizing quotient, EQ) and that of systemizing (systemizing quotient, SQ), and D score was measured via a validated questionnaire (SQ and EQ questionnaires). The results showed that higher CDT was significantly and positively correlated with both the score of EQ and the score of SQ but not with D score. These results suggest that CDT is positively associated with one of the characteristics of ASCs (analytical aspects), while exhibiting a negative association with another (lower social aspects). Therefore, the discrepancy between systemizing and empathizing, which is strongly associated with autistic tendency, was not associated with CDT.
C1 [Takeuchi, Hikaru; Taki, Yasuyuki; Hashizume, Hiroshi; Sassa, Yuko; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Sendai, Miyagi 9808575, Japan.
[Taki, Yasuyuki] Tohoku Univ, Div Med Neuroimaging Anal, Dept Community Med Supports, Tohoku Med Megabank Org, Sendai, Miyagi 9808575, Japan.
[Taki, Yasuyuki; Sekiguchi, Atsushi] Tohoku Univ, Dept Radiol & Nucl Med, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Sekiguchi, Atsushi; Nakagawa, Seishu; Miyauchi, Carlos M.; Iizuka, Kunio; Yokoyama, Ryoichi; Shinada, Takamitsu; Yamamoto, Yuki; Hanawa, Sugiko; Kawashima, Ryuta] Tohoku Univ, Dept Funct Brain Imaging, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Nouchi, Rui] Tohoku Univ, Human & Social Response Res Div, Int Res Inst Disaster Sci, Sendai, Miyagi 9808575, Japan.
[Nouchi, Rui; Kotozaki, Yuka; Araki, Tsuyoshi; Kawashima, Ryuta] Tohoku Univ, Smart Ageing Int Res Ctr, Inst Dev Aging & Canc, Sendai, Miyagi 9808575, Japan.
[Yokoyama, Ryoichi] Japan Soc Promot Sci, Tokyo, Japan.
RP Takeuchi, H (reprint author), Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Aoba Ku, 4-1 Seiryo Cho, Sendai, Miyagi 9808575, Japan.
EM takehi@idac.tohoku.ac.jp
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NR 81
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 19
PY 2014
VL 5
AR 921
DI 10.3389/fpsyg.2014.00921
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AO5JJ
UT WOS:000341380200001
PM 25191299
ER
PT J
AU Parker, KJ
Garner, JP
Libove, RA
Hyde, SA
Hornbeak, KB
Carson, DS
Liao, CP
Phillips, JM
Hallmayer, JF
Hardan, AY
AF Parker, Karen J.
Garner, Joseph P.
Libove, Robin A.
Hyde, Shellie A.
Hornbeak, Kirsten B.
Carson, Dean S.
Liao, Chun-Ping
Phillips, Jennifer M.
Hallmayer, Joachim F.
Hardan, Antonio Y.
TI Plasma oxytocin concentrations and OXTR polymorphisms predict social
impairments in children with and without autism spectrum disorder
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID RECEPTOR GENE OXTR; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; GENOME-WIDE; BEHAVIOR; ASSOCIATION; BRAIN; HUMANS;
NEUROPEPTIDES; VASOPRESSIN
AB The neuropeptide oxytocin (OXT) and its receptor (OXTR) regulate social functioning in animals and humans. Initial clinical research suggests that dysregulated plasma OXT concentrations and/or OXTR SNPs may be biomarkers of social impairments in autism spectrum disorder (ASD). We do not know, however, whether OXT dysregulation is unique to ASD or whether OXT biology influences social functioning more generally, thus contributing to, but not causing, ASD phenotypes. To distinguish between these possibilities, we tested in a child ASD cohort, which included unaffected siblings and unrelated neurotypical controls (ages 3-12 y; n = 193), whether plasma OXT concentrations and OXTR SNPs (i) interact to produce ASD phenotypes, (ii) exert differential phenotypic effects in ASD vs. non-ASD children, or (iii) have similar phenotypic effects independent of disease status. In the largest cohort tested to date, we found no evidence to support the OXT deficit hypothesis of ASD. Rather, OXT concentrations strongly and positively predicted theory of mind and social communication performance in all groups. Furthermore, OXT concentrations showed significant heritability between ASD-discordant siblings (h(2) = 85.5%); a heritability estimate on par with that of height in humans. Finally, carriers of the "G" allele of rs53576 showed impaired affect recognition performance and carriers of the "A" allele of rs2254298 exhibited greater global social impairments in all groups. These findings indicate that OXT biology is not uniquely associated with ASD, but instead exerts independent, additive, and highly heritable influences on individual differences in human social functioning, including the severe social impairments which characterize ASD.
C1 [Parker, Karen J.; Garner, Joseph P.; Libove, Robin A.; Hyde, Shellie A.; Hornbeak, Kirsten B.; Carson, Dean S.; Liao, Chun-Ping; Phillips, Jennifer M.; Hallmayer, Joachim F.; Hardan, Antonio Y.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Garner, Joseph P.] Stanford Univ, Sch Med, Dept Comparat Med, Stanford, CA 94305 USA.
RP Parker, KJ (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
EM kjparker@stanford.edu
FU National Institutes of Health [RR000167]; Simons Foundation Autism
Research Initiative; Mosbacher Family Fund for Autism Research; Escher
Fund at the Silicon Valley Community Foundation; Stanford University's
Child Health Research Institute
FX We thank Wendy Kalkus, Serena Tanaka, Kaeli Yuen, and Katy Brewster for
help with blood sample collection and processing as well as data entry.
We also thank Dr. Carl Feinstein (Director of the Stanford Autism
Center) for his unwavering support of this research program.
Additionally, we thank Dr. Toni Zeigler and Dan Wittwer (University of
Wisconsin National Primate Research Center Assay Services) for
conducting the OXT assays which were made possible by National
Institutes of Health Grant RR000167. This research program was supported
by grants from the Simons Foundation Autism Research Initiative (to
K.J.P.), the Mosbacher Family Fund for Autism Research (to K.J.P.), the
Escher Fund at the Silicon Valley Community Foundation (to A.Y.H.), and
Stanford University's Child Health Research Institute (to K.J.P. and
A.Y.H.).
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NR 52
TC 4
Z9 4
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD AUG 19
PY 2014
VL 111
IS 33
BP 12258
EP 12263
DI 10.1073/pnas.1402236111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AN2TS
UT WOS:000340438800080
PM 25092315
ER
PT J
AU Dal Monte, O
Noble, PL
Turchi, J
Cummins, A
Averbeck, BB
AF Dal Monte, Olga
Noble, Pamela L.
Turchi, Janita
Cummins, Alex
Averbeck, Bruno B.
TI CSF and Blood Oxytocin Concentration Changes following Intranasal
Delivery in Macaque
SO PLOS ONE
LA English
DT Article
ID CEREBROSPINAL-FLUID; PLASMA OXYTOCIN; RHESUS-MONKEYS; MACACA-MULATTA;
DRUG-DELIVERY; BRAIN-BARRIER; SPINAL-CORD; VASOPRESSIN; RATS; HUMANS
AB Oxytocin (OT) in the central nervous system (CNS) influences social cognition and behavior, making it a candidate for treating clinical disorders such as schizophrenia and autism. Intranasal administration has been proposed as a possible route of delivery to the CNS for molecules like OT. While intranasal administration of OT influences social cognition and behavior, it is not well established whether this is an effective means for delivering OT to CNS targets. We administered OT or its vehicle (saline) to 15 primates (Macaca mulatta), using either intranasal spray or a nebulizer, and measured OT concentration changes in the cerebral spinal fluid (CSF) and in blood. All subjects received both delivery methods and both drug conditions. Baseline samples of blood and CSF were taken immediately before drug administration. Blood was collected every 10 minutes after administration for 40 minutes and CSF was collected once post-delivery, at the 40 minutes time point. We found that intranasal administration of exogenous OT increased concentrations in both CSF and plasma compared to saline. Both delivery methods resulted in similar elevations of OT concentration in CSF, while the changes in plasma OT concentration were greater after nasal spray compared to nebulizer. In conclusion our study provides evidence that both nebulizer and nasal spray OT administration can elevate CSF OT levels.
C1 [Dal Monte, Olga; Noble, Pamela L.; Turchi, Janita; Cummins, Alex; Averbeck, Bruno B.] NIH, NIMH, Neuropsychol Lab, Bethesda, MD 20892 USA.
[Dal Monte, Olga] Univ Turin, Dept Neuropsychol, Turin, Italy.
RP Averbeck, BB (reprint author), NIH, NIMH, Neuropsychol Lab, Bldg 10, Bethesda, MD 20892 USA.
EM averbeckbb@mail.nih.gov
FU Intramural Research Program of the NIMH/NIH/DHHS
FX This research was supported by the Intramural Research Program of the
NIMH/NIH/DHHS. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 48
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 18
PY 2014
VL 9
IS 8
AR e103677
DI 10.1371/journal.pone.0103677
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO4JF
UT WOS:000341302700015
PM 25133536
ER
PT J
AU Kim, JW
Seung, H
Kwon, KJ
Ko, MJ
Lee, EJ
Oh, HA
Choi, CS
Kim, KC
Gonzales, EL
You, JS
Choi, DH
Lee, J
Han, SH
Yang, SM
Cheong, JH
Shin, CY
Bahn, GH
AF Kim, Ji-Woon
Seung, Hana
Kwon, Kyung Ja
Ko, Mee Jung
Lee, Eun Joo
Oh, Hyun Ah
Choi, Chang Soon
Kim, Ki Chan
Gonzales, Edson Luck
You, Jueng Soo
Choi, Dong-Hee
Lee, Jongmin
Han, Seol-Heui
Yang, Sung Min
Cheong, Jae Hoon
Shin, Chan Young
Bahn, Geon Ho
TI Subchronic Treatment of Donepezil Rescues Impaired Social, Hyperactive,
and Stereotypic Behavior in Valproic Acid-Induced Animal Model of Autism
SO PLOS ONE
LA English
DT Article
ID BTBR-T+TF/J MICE; MOUSE MODEL; SPECTRUM DISORDERS; ALZHEIMERS-DISEASE;
NICOTINIC RECEPTORS; TRANSGENIC MICE; RATS; ACETYLCHOLINE; DEFICITS;
MEMORY
AB Autism spectrum disorder (ASD) is a group of pervasive developmental disorders with core symptoms such as sociability deficit, language impairment, and repetitive/restricted behaviors. Although worldwide prevalence of ASD has been increased continuously, therapeutic agents to ameliorate the core symptoms especially social deficits, are very limited. In this study, we investigated therapeutic potential of donepezil for ASD using valproic acid-induced autistic animal model (VPA animal model). We found that prenatal exposure of valproic acid (VPA) induced dysregulation of cholinergic neuronal development, most notably the up-regulation of acetylcholinesterase (AChE) in the prefrontal cortex of affected rat and mouse offspring. Similarly, differentiating cortical neural progenitor cell in culture treated with VPA showed increased expression of AChE in vitro. Chromatin precipitation experiments revealed that acetylation of histone H3 bound to AChE promoter region was increased by VPA. In addition, other histone deacetyalse inhibitors (HDACIs) such as trichostatin A and sodium butyrate also increased the expression of AChE in differentiating neural progenitor cells suggesting the essential role of HDACIs in the regulation of AChE expression. For behavioral analysis, we injected PBS or donepezil (0.3 mg/kg) intraperitoneally to control and VPA mice once daily from postnatal day 14 all throughout the experiment. Subchronic treatment of donepezil improved sociability and prevented repetitive behavior and hyperactivity of VPA-treated mice offspring. Taken together, these results provide evidence that dysregulation of ACh system represented by the up-regulation of AChE may serve as an effective pharmacological therapeutic target against autistic behaviors in VPA animal model of ASD, which should be subjected for further investigation to verify the clinical relevance.
C1 [Kim, Ji-Woon; Seung, Hana; Ko, Mee Jung; Lee, Eun Joo; Oh, Hyun Ah; Choi, Chang Soon; Kim, Ki Chan; Gonzales, Edson Luck; You, Jueng Soo; Choi, Dong-Hee; Lee, Jongmin; Han, Seol-Heui; Yang, Sung Min; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Neurosci, Seoul, South Korea.
[Kwon, Kyung Ja] Konkuk Univ, Ctr Res Neurosci, Inst Biomed Sci & Technol, Seoul, South Korea.
[Cheong, Jae Hoon] Sahmyook Univ, Coll Pharm, Dept Pharmacol, Seoul, South Korea.
[Bahn, Geon Ho] Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul, South Korea.
RP Shin, CY (reprint author), Konkuk Univ, Sch Med, Dept Neurosci, Seoul, South Korea.
EM chanyshin@kku.ac.k; mompeian@khu.ac.kr
FU Korean Health Technology R&D Project, Ministry of health & welfare,
Republic of Korea [A120029]
FX This work was supported by a grant of the Korean Health Technology R&D
Project, Ministry of health & welfare, Republic of Korea (No. A120029).
The funder had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 67
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 18
PY 2014
VL 9
IS 8
AR e104927
DI 10.1371/journal.pone.0104927
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO4JF
UT WOS:000341302700051
PM 25133713
ER
PT J
AU Gaigg, SB
Bowler, DM
Gardiner, JM
AF Gaigg, Sebastian B.
Bowler, Dermot M.
Gardiner, John M.
TI Episodic but not semantic order memory difficulties in autism spectrum
disorder: Evidence from the Historical Figures Task
SO MEMORY
LA English
DT Article
DE Memory development; Episodic memory; Semantic memory; Order memory;
Autism spectrum disorder
ID ASPERGERS-SYNDROME; AUTOBIOGRAPHICAL MEMORY; FREE-RECALL; AUTONOETIC
CONSCIOUSNESS; AMNESIC SYNDROME; FUTURE THINKING; EARLY-CHILDHOOD;
ADULTS; CHILDREN; RECOGNITION
AB Considerable evidence suggests that the episodic memory system operates abnormally in autism spectrum disorder (ASD) whereas the functions of the semantic memory system are relatively preserved. Here we show that the same dissociation also applies to the domain of order memory. We asked adult participants to order the names of famous historical figures either according to their chronological order in history (probing semantic memory) or according to a random sequence shown once on a screen (probing episodic memory). As predicted, adults with ASD performed less well than age- and IQ-matched comparison individuals only on the episodic task. This observation is of considerable importance in the context of developmental theory because semantic and episodic order memory abilities can be dissociated in typically developing infants before they reach the age at which the behavioural markers associated with ASD are first apparent. This raises the possibility that early emerging memory abnormalities play a role in shaping the developmental trajectory of the disorder. We discuss the broader implications of this possibility and highlight the urgent need for greater scrutiny of memory competences in ASD early in development.
C1 [Gaigg, Sebastian B.; Bowler, Dermot M.; Gardiner, John M.] City Univ London, Dept Psychol, Northampton EC1V 0HB, England.
RP Gaigg, SB (reprint author), City Univ London, Dept Psychol, Northampton Sq, Northampton EC1V 0HB, England.
EM s.b.gaigg@city.ac.uk
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NR 58
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0965-8211
EI 1464-0686
J9 MEMORY
JI Memory
PD AUG 18
PY 2014
VL 22
IS 6
BP 669
EP 678
DI 10.1080/09658211.2013.811256
PG 10
WC Psychology, Experimental
SC Psychology
GA AE4KJ
UT WOS:000333951000007
PM 23815188
ER
PT J
AU Shih, PY
Lee, SP
Chen, YK
Hsueh, YP
AF Shih, Pu-Yun
Lee, Sue-Ping
Chen, Yi-Kai
Hsueh, Yi-Ping
TI Cortactin-binding protein 2 increases microtubule stability and
regulates dendritic arborization
SO JOURNAL OF CELL SCIENCE
LA English
DT Article
DE Acetylated tubulin; CTTNBP2; Dendritic arborization; Microtubule
bundling
ID MORPHOLOGY; PROMOTES; TUBULIN; TAU; MORPHOGENESIS; PLASTICITY; ISOFORMS;
NEURONS; AUTISM; GENE
AB Neurons are characterized by subcellular compartments, such as axons, dendrites and synapses, that have highly specialized morphologies and biochemical specificities. Cortactin-binding protein 2 (CTTNBP2), a neuron-specific F-actin regulator, has been shown to play a role in the regulation of dendritic spine formation and their maintenance. Here, we show that, in addition to F-actin, CTTNBP2 also associates with microtubules before mature dendritic spines form. This association of CTTNBP2 and microtubules induced the formation of microtubule bundles. Although the middle (Mid) region of CTTNBP2 was sufficient for its association with microtubules, for microtubule bundling, the N-terminal region containing the coiled-coil motifs (NCC), which mediates the dimerization or oligomerization of CTTNBP2, was also required. Our study indicates that CTTNBP2 proteins form a dimer or oligomer and brings multiple microtubule filaments together to form bundles. In cultured hippocampal neurons, knockdown of CTTNBP2 or expression of the Mid or NCC domain alone reduced the acetylation levels of microtubules and impaired dendritic arborization. This study suggests that CTTNBP2 influences both the F-actin and microtubule cytoskeletons and regulates dendritic spine formation and dendritic arborization.
C1 [Shih, Pu-Yun; Hsueh, Yi-Ping] Natl Yang Ming Univ, Fac Life Sci, Inst Genome Sci, Taipei 112, Taiwan.
[Shih, Pu-Yun; Lee, Sue-Ping; Chen, Yi-Kai; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 115, Taiwan.
RP Hsueh, YP (reprint author), Natl Yang Ming Univ, Fac Life Sci, Inst Genome Sci, Taipei 112, Taiwan.
EM yph@gate.sinica.edu.tw
FU Academia Sinica [AS-100TP- B09, AS-103-TP-B05]; National Science Council
of Taiwan [NSC 102-2321-B-001-054, NSC 102-2321-B-001-029]
FX This work is supported by grants from Academia Sinica [grant numbers
AS-100TP-B09, AS-103-TP-B05]; and the National Science Council of Taiwan
[grant numbers NSC 102-2321-B-001-054, NSC 102-2321-B-001-029] to Y.P.H.
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NR 26
TC 1
Z9 1
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
CAMBS, ENGLAND
SN 0021-9533
EI 1477-9137
J9 J CELL SCI
JI J. Cell Sci.
PD AUG 15
PY 2014
VL 127
IS 16
BP 3521
EP 3534
DI 10.1242/jcs.149476
PG 14
WC Cell Biology
SC Cell Biology
GA AO2TX
UT WOS:000341180000011
PM 24928895
ER
PT J
AU Martin, BS
Corbin, JG
Huntsman, MM
AF Martin, Brandon S.
Corbin, Joshua G.
Huntsman, Molly M.
TI Deficient tonic GABAergic conductance and synaptic balance in the
fragile X syndrome amygdala
SO JOURNAL OF NEUROPHYSIOLOGY
LA English
DT Article
DE tonic inhibition; GABA; amygdala; fragile X syndrome
ID CONTAINING GABA(A) RECEPTORS; ADULT-RAT BRAIN; MOUSE MODEL;
PHARMACOLOGICAL CHARACTERIZATION; CONTAINING INTERNEURONS; FEEDFORWARD
INHIBITION; BASOLATERAL AMYGDALA; MENTAL-RETARDATION; PYRAMIDAL NEURONS;
CGG REPEAT
AB Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. Comorbidities of FXS such as autism are increasingly linked to imbalances in excitation and inhibition (E/I) as well as dysfunction in GABAergic transmission in a number of brain regions including the amygdala. However, the link between E/I imbalance and GABAergic transmission deficits in the FXS amygdala is poorly understood. Here we reveal that normal tonic GABA(A) receptor-mediated neurotransmission in principal neurons (PNs) of the basolateral amygdala (BLA) is comprised of both delta- and alpha 5-subunit-containing GABA(A) receptors. Furthermore, tonic GABAergic capacity is reduced in these neurons in the Fmr1 knockout (KO) mouse model of FXS (1.5-fold total, 3-fold delta-subunit, and 2-fold alpha 5-subunit mediated) as indicated by application of gabazine (50 mu M), 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol (THIP, 1 mu M), and alpha 5ia (1.5 mu M) in whole cell patch-clamp recordings. Moreover, alpha 5-containing tonic GABA(A) receptors appear to preferentially modulate nonsomatic compartments of BLA PNs. Examination of evoked feedforward synaptic transmission in these cells surprisingly revealed no differences in overall synaptic conductance or E/I balance between wild-type (WT) and Fmr1 KO mice. Instead, we observed altered feedforward kinetics in Fmr1 KO PNs that supports a subtle yet significant decrease in E/I balance at the peak of excitatory conductance. Blockade of alpha 5-subunit-containing GABA(A) receptors replicated this condition in WT PNs. Therefore, our data suggest that tonic GABA(A) receptor-mediated neurotransmission can modulate synaptic E/I balance and timing established by feedforward inhibition and thus may represent a therapeutic target to enhance amygdala function in FXS.
C1 [Martin, Brandon S.; Corbin, Joshua G.] Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA.
[Martin, Brandon S.] Georgetown Univ, Med Ctr, Interdisciplinary Program Neurosci, Washington, DC 20007 USA.
[Huntsman, Molly M.] Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Aurora, CO 80045 USA.
[Huntsman, Molly M.] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
RP Huntsman, MM (reprint author), Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Pharmaceut Sci, Anschutz Med Campus, Aurora, CO 80045 USA.
EM molly.huntsman@ucdenver.edu
FU National Institute of Neurological Disorders and Stroke [NS-053719];
Epilepsy Foundation; Autism Speaks; FRAXA Foundation
FX This work was supported by grants from National Institute of
Neurological Disorders and Stroke (M. M. Huntsman; Grant NS-053719), the
Epilepsy Foundation (B. S. Martin), Autism Speaks (M. M. Huntsman and J.
G. Corbin), and the FRAXA Foundation (M. M. Huntsman and J. G. Corbin).
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NR 63
TC 1
Z9 1
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0022-3077
EI 1522-1598
J9 J NEUROPHYSIOL
JI J. Neurophysiol.
PD AUG 15
PY 2014
VL 112
IS 4
BP 890
EP 902
DI 10.1152/jn.00597.2013
PG 13
WC Neurosciences; Physiology
SC Neurosciences & Neurology; Physiology
GA AN8FR
UT WOS:000340839300013
PM 24848467
ER
PT J
AU Pragnya, B
Kameshwari, JSL
Veeresh, B
AF Pragnya, B.
Kameshwari, J. S. L.
Veeresh, B.
TI Ameliorating effect of piperine on behavioral abnormalities and
oxidative markers in sodium valproate induced autism in BALB/C mice
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Valproate; Mice; Piperine; Behavior
ID CULTURED HIPPOCAMPAL-NEURONS; PRENATAL EXPOSURE; ANIMAL-MODEL; INDUCED
APOPTOSIS; ACID; RATS; SYSTEM; BRAIN; NOREPINEPHRINE; DISORDERS
AB Post natal exposure to VPA (valproic acid) in mice induces behavioral deficits, abnormal sensitivity to sensory stimuli and self-injurious behavior, observed in autism. Piperine has been reported to have protective effect on brain. The present study aimed at evaluating effect of piperine on VPA induced neurobehavioral and biochemical alterations in BALB/c mice. Young BALB/c mice 13 days old were procured from five different litters and segregated into five groups (n = 6; 3 male, 3 female) i.e., Group I served as control group, received physiological saline on PND (Post natal day) 14 & Tween 80 p.o. from PND13-40. Group II served as normal treated group and received piperine (20 mg/kg p.o.) from PND 13-40 and saline s.c. on PND 14. Group III served as valproate treated group received VPA (400 mg/kg s.c.) on PND 14 and Tween 80 p.o. from PND 13-40. Group IV & V served as disease treated group received VPA (400 mg/kg s.c.) on PND 14 & piperine (5 & 20 mg/kg p.o.) from PND 13-40 respectively. BALB/c mice pups were subjected to behavioral testing to assess motor skill development, nociceptive response, locomotion, anxiety, and cognition on various postnatal days up to PND 40. At the end of behavioral evaluation, mice were sacrificed; brain was isolated for biochemical estimations (serotonin, glutathione, MDA and nitric oxide) and histopathological examination. Our study revealed that treatment with piperine significantly improved behavioral alterations, lowered oxidative stress markers, and restored histoarchitecture of cerebellum. This ameliorating effect of piperine is attributed to its anti-oxidant activity, cognition enhancing and neuroprotective activity. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Pragnya, B.; Kameshwari, J. S. L.; Veeresh, B.] Osmania Univ, Dept Pharmacol, G Pulla Reddy Coll Pharm, Hyderabad 500027, Andhra Pradesh, India.
RP Pragnya, B (reprint author), Osmania Univ, Dept Pharmacol, G Pulla Reddy Coll Pharm, Hyderabad 500027, Andhra Pradesh, India.
EM pragnyareddy.9@gmail.com
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NR 44
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 15
PY 2014
VL 270
BP 86
EP 94
DI 10.1016/j.bbr.2014.04.045
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AM2PV
UT WOS:000339694200010
PM 24803211
ER
PT J
AU Ju, A
Hammerschmidt, K
Tantra, M
Krueger, D
Brose, N
Ehrenreich, H
AF Ju, Anes
Hammerschmidt, Kurt
Tantra, Martesa
Krueger, Dilja
Brose, Nils
Ehrenreich, Hannelore
TI Juvenile manifestation of ultrasound communication deficits in the
neuroligin-4 null mutant mouse model of autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Neuroligin-4; C57BL/6J; Ultrasound or ultrasonic vocalization; Neonatal
milestones; Neonatal development; Gender
ID MICE; VOCALIZATIONS; BEHAVIORS; MECP2; RATS
AB Neuroligin-4 (Nlgn4) is a member of the neuroligin family of postsynaptic cell adhesion molecules. Loss-of-function mutations of NLGN4 are among the most frequent, known genetic causes of heritable autism. Adult NIgn4 null mutant (N1g174-1-) mice are a construct valid model of human autism, with both genders displaying a remarkable autistic phenotype, including deficits in social interaction and communication as well as restricted and repetitive behaviors. In contrast to adults, autism-related abnormalities in neonatal and juvenile NIgn4-/- mice have not been reported yet. The present study has been designed to systematically investigate in male and female NIgn4-/- pups versus wildtype littermates NIgn4+1+) developmental milestones and stimulus-induced ultrasound vocalization (USV). Neonatal development, followed daily from postnatal days (PND) 4 to 21, including physical development, neurological reflexes and neuromotor coordination, did not yield any differences between NIgn4-/- and their WT littermates. USV in pups (PND8-9) in response to brief separation from their mothers revealed remarkable gender effects, and a genotype influence in females regarding latency to first call. In juveniles (PND22-23), USV monitoring upon exposure to an anesthetized female intruder mouse uncovered a clear genotype effect with reduced USV in NIgn4-/- mice, and again a more prominent phenotype in females. Together, these data support an early manifestation of communication deficits in NIgn4-/- mice that appear more pronounced in immature females with their overall stronger USV as compared to males. (C) 2014 Elsevier B.V. All rights reserved.
C1 Max Planck Inst Expt Med, Clin Neuroscience, Gottingen, Germany.
[Hammerschmidt, Kurt] DFG Ctr Nanoscale Microscopy & Mol Physiol, Gottingen, Germany.
[Krueger, Dilja; Brose, Nils] Max Planck Inst Expt Med, Dept Mol Neurobiol, Gottingen, Germany.
RP Ehrenreich, H (reprint author), Max Planck Inst Expt Med, Clin Neuroscience, Gottingen, Germany.
EM ehrenreich@em.mpg.de
FU Max Planck Society; Max Planck Forderstiftung; DFG (CNMPB); EU-AIMS;
Innovative Medicines Initiative Joint Undertaking [115300]; European
Union; EFPIA companies; Autism Speaks
FX This work was supported by the Max Planck Society, the Max Planck
Forderstiftung, the DFG (CNMPB) as well as by EU-AIMS. The research of
EU-AIMS receives support from the Innovative Medicines Initiative Joint
Undertaking under grant agreement no. 115300, resources of which are
composed of financial contribution from the European Union's Seventh
Framework Programme (FP7/2007-2013), from the EFPIA companies, and from
Autism Speaks.
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NR 25
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 15
PY 2014
VL 270
BP 159
EP 164
DI 10.1016/j.bbr.2014.05.019
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AM2PV
UT WOS:000339694200020
PM 24855039
ER
PT J
AU Martinez-Martinez, MA
Pacheco-Torres, J
Borrell, V
Canals, S
AF Martinez-Martinez, M. A.
Pacheco-Torres, J.
Borrell, V.
Canals, S.
TI Phenotyping the central nervous system of the embryonic mouse by
magnetic resonance microscopy
SO NEUROIMAGE
LA English
DT Article
DE MRI; Gadolinium; Embryo; Development; Mouse; Brain
ID GENE-EXPRESSION; CONTRAST AGENTS; NEONATAL MOUSE; MR MICROSCOPY; BRAIN;
MICE; FOREBRAIN; AUTISM; ATLAS; MODEL
AB Genetic mouse models of neurodevelopmental disorders are being massively generated, but technologies for their high-throughput phenotyping are missing. The potential of high-resolution magnetic resonance imaging (MRI) for structural phenotyping has been demonstrated before. However, application to the embryonic mouse central nervous system has been limited by the insufficient anatomical detail. Here we present a method that combines staining of live embryos with a contrast agent together with MR microscopy after fixation, to provide unprecedented anatomical detail at relevant embryonic stages. By using this method we have phenotyped the embryonic forebrain of Robo1/2(-/-) double mutant mice enabling us to identify most of the well-known anatomical defects in these mutants, as well as novel more subtle alterations. We thus demonstrate the potential of this methodology for a fast and reliable screening of subtle structural abnormalities in the developing mouse brain, as those associated to defects in disease-susceptibility genes of neurologic and psychiatric relevance. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Martinez-Martinez, M. A.; Borrell, V.] CSIC, Inst Neurociencias, Dev Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
[Martinez-Martinez, M. A.; Pacheco-Torres, J.; Borrell, V.] Univ Miguel Hernandez, Sant Joan dAlacant 03550, Spain.
[Pacheco-Torres, J.; Canals, S.] CSIC, Inst Neurociencias, Cellular & Syst Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
RP Borrell, V (reprint author), CSIC, Inst Neurociencias, Dev Neurobiol Unit, Sant Joan dAlacant 03550, Spain.
EM vborrell@umh.es; scanals@umh.es
RI Canals, Santiago/N-5838-2014
OI Canals, Santiago/0000-0003-2175-8139
FU Spanish Ministry of Science and Innovation MICINN, Era-Net NEURON
TRANSALC [CSD2007-00023, BFU2009-09938, BFU2012-39958,
PIM2010ERN-00679]; [SAF2009-07367]; [BFU2012-33473]
FX We are grateful to M. Tessier-Lavigne for the Robo1/2 mouse colony and
thankful to C. Vegar, M.A. Fernandez and B. Fernandez for excellent
technical assistance. Supported by grants from the Spanish Ministry of
Science and Innovation MICINN to S.C. (CSD2007-00023, BFU2009-09938,
BFU2012-39958 and PIM2010ERN-00679 as part of the Era-Net NEURON
TRANSALC project) and to V.B. (CSD2007-00023, SAF2009-07367,
BFU2012-33473).
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NR 38
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD AUG 15
PY 2014
VL 97
BP 95
EP 106
DI 10.1016/j.neuroimage.2014.04.043
PG 12
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AJ8WL
UT WOS:000337988700010
PM 24769183
ER
PT J
AU Bridgman, MW
Brown, WS
Spezio, ML
Leonard, MK
Adolphs, R
Paul, LK
AF Bridgman, Matthew W.
Brown, Warren S.
Spezio, Michael L.
Leonard, Matthew K.
Adolphs, Ralph
Paul, Lynn K.
TI Facial emotion recognition in agenesis of the corpus callosum
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Corpus callosum agenesis; Corpus callosum; Facial emotion
ID HIGH-FUNCTIONING AUTISM; SENTENCE COMPREHENSION; PSYCHOPHYSICS TOOLBOX;
SPECTRUM DISORDERS; CHILDREN; DEFICITS; LANGUAGE; CONNECTIVITY;
PERCEPTION; ADULTS
AB Background: Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable example of callosal disconnection. To date, deficits in nonliteral language comprehension, humor, theory of mind, and social reasoning have been documented in agenesis of the corpus callosum. Here, we examined a basic social ability as yet not investigated in this population: recognition of facial emotion and its association with social gaze.
Methods: Nine individuals with callosal agenesis and nine matched controls completed four tasks involving emotional faces: emotion recognition from upright and inverted faces, gender recognition, and passive viewing. Eye-tracking data were collected concurrently on all four tasks and analyzed according to designated facial regions of interest.
Results: Individuals with callosal agenesis exhibited impairments in recognizing emotions from upright faces, in particular lower accuracy for fear and anger, and these impairments were directly associated with diminished attention to the eye region. The callosal agenesis group exhibited greater consistency in emotion recognition across conditions (upright vs. inverted), with poorest performance for fear identification in both conditions. The callosal agenesis group also had atypical facial scanning (lower fractional dwell time in the eye region) during gender naming and passive viewing of faces, but they did not differ from controls on gender naming performance. The pattern of results did not differ when taking into account full-scale intelligence quotient or presence of autism spectrum symptoms.
Conclusions: Agenesis of the corpus callosum results in a pattern of atypical facial scanning characterized by diminished attention to the eyes. This pattern suggests that reduced callosal connectivity may contribute to the development and maintenance of emotion processing deficits involving reduced attention to others' eyes.
C1 [Bridgman, Matthew W.] DuBois Reg Med Ctr, Du Bois, PA 15801 USA.
[Brown, Warren S.] Fuller Theol Seminary, Travis Res Inst, Pasadena, CA 91101 USA.
[Spezio, Michael L.; Adolphs, Ralph; Paul, Lynn K.] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Spezio, Michael L.] Scripps Coll, Claremont, CA 91711 USA.
[Leonard, Matthew K.] Univ Calif San Francisco, San Francisco, CA 94117 USA.
[Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
RP Paul, LK (reprint author), CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
EM lkpaul@hss.caltech.edu
FU Pfeiffer Foundation; Simons Foundation; Travis Research Institute
FX This research was supported in part by the Pfeiffer Foundation, the
Simons Foundation, and the Travis Research Institute. The authors would
like to thank Candace Markley for her contributions in data management.
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NR 66
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD AUG 14
PY 2014
VL 6
AR 32
DI 10.1186/1866-1955-6-32
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AW1DO
UT WOS:000346031000001
PM 25705318
ER
PT J
AU Oberman, LM
Pascual-Leone, A
Rotenberg, A
AF Oberman, Lindsay M.
Pascual-Leone, Alvaro
Rotenberg, Alexander
TI Modulation of corticospinal excitabilty by transcranial magnetic
stimulation in children and adolescents with autism spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders; transcranial magnetic stimulation;
development; plasticity; GABA; theta burst stimulation
ID THETA-BURST STIMULATION; HUMAN MOTOR CORTEX; CORTICAL INHIBITION;
FUTURE-DIRECTIONS; ASPERGER-SYNDROME; POSTURAL CONTROL; IN-VIVO; GABA;
BRAIN; MODEL
AB The developmental pathophysiology of autism spectrum disorders (ASD) is currently not fully understood. However, multiple lines of evidence suggest that the behavioral phenotype may result from dysfunctional inhibitory control over excitatory synaptic plasticity. Consistent with this claim, previous studies indicate that adults with Asperger's Syndrome show an abnormally extended modulation of corticospinal excitability following a train of repetitive transcranial magnetic stimulation (rTMS). As ASD is a developmental disorder, the current study aimed to explore the effect of development on the duration of modulation of corticospinal excitability in children and adolescents with ASD. Additionally, as the application of rTMS to the understanding and treatment of pediatric neurological and psychiatric disorders is an emerging field, this study further sought to provide evidence for the safety and tolerability of rTMS in children and adolescents with ASD. Corticospinal excitability was measured by applying single pulses of TMS to the primary motor cortex both before and following a 40 s train of continuous theta burst stimulation. 19 high-functioning males ages 9-18 with ASD participated in this study. Results from this study reveal a positive linear relationship between age and duration of modulation of rTMS aftereffects. Specifically we found that the older participants had a longer lasting response. Furthermore, though the specific protocol employed typically suppresses corticospinal excitability in adults, more than one third of our sample had a paradoxical facilitatory response to the stimulation. Results support the safety and tolerability of rTMS in pediatric clinical populations. Data also support published theories implicating aberrant plasticity and GABAergic dysfunction in this population.
C1 [Oberman, Lindsay M.; Pascual-Leone, Alvaro; Rotenberg, Alexander] Harvard Univ, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Sch Med,Dept Neurol, Boston, MA 02215 USA.
[Oberman, Lindsay M.; Rotenberg, Alexander] Harvard Univ, Sch Med, Dept Neurol, Neuromodulat Program,Boston Childrens Hosp, Boston, MA 02115 USA.
[Oberman, Lindsay M.; Rotenberg, Alexander] Harvard Univ, Sch Med, Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol,Dept Neurol, Boston, MA 02115 USA.
[Oberman, Lindsay M.] EP Bradley Hosp, Neuroplast & Autism Spectrum Disorder Program, East Providence, RI 02915 USA.
[Oberman, Lindsay M.] Brown Univ, Warren Alpert Med Sch, Dept Psychiat & Human Behav, East Providence, RI USA.
RP Oberman, LM (reprint author), EP Bradley Hosp, Neuroplast & Autism Spectrum Disorder Program, 1011 Vet Mem Pkwy, East Providence, RI 02915 USA.
EM loberman@lifespan.org; alexander.rotenberg@childrens.harvard.edu
FU Boston Children's Hospital Translational Research Program; National
Institutes of Health and National Institute of Mental Health
[1R01MH100186]; Harvard Catalyst; Harvard Clinical and Translational
Science Center; NCRR; WAITS NIH [8KL2TR000168-05]; Harvard Clinical and
Translational Science Center [8UL1TR000170-05]; Epilepsy Research
Foundation; Simons Foundation; Nancy Lurie Marks Family Foundation;
National Institutes of Health [R01 HD069776, R01NS073601, R21 MH099196,
R21 NS082870, R21 NS085491, R21 HD07616, UL1 RR025758]; Michael J. Fox
Foundation; Sidney R. Baer Foundation; Center for Integration of
Medicine and Innovative Technology (CIMIT); Department of Defense
[PR121509]; Autism Speaks [48702]; Eisai Inc.; epilepsy therapy project
FX Work on the project is supported grants the Boston Children's Hospital
Translational Research Program (Alexander Rotenberg), National
Institutes of Health and National Institute of Mental Health
(1R01MH100186), and Harvard Catalyst, The Harvard Clinical and
Translational Science Center (NCRR and the WAITS NIH 8KL2TR000168-05).
Lindsay M. Oberman is further supported by grants from the Harvard
Clinical and Translational Science Center (8UL1TR000170-05), the
Epilepsy Research Foundation, the Simons Foundation and the Nancy Lurie
Marks Family Foundation, Alvaro Pascual-Leone is further supported by
grants from the National Institutes of Health (R01 HD069776,
R01NS073601, R21 MH099196, R21 NS082870, R21 NS085491, R21 HD07616, UL1
RR025758), Michael J. Fox Foundation and Sidney R. Baer Foundation.
Alexander Roten berg is further supported by the Center for Integration
of Medicine and Innovative Technology (CIMIT), Department of Defense
PR121509, Autism Speaks Grant 48702, and grants from Eisai Inc. and the
Epilepsy Research Foundation and epilepsy therapy project.
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NR 61
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 13
PY 2014
VL 8
AR 627
DI 10.3389/fnhum.2014.00627
PG 8
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6YF
UT WOS:000340744000001
PM 25165441
ER
PT J
AU Adamsen, D
Ramaekers, V
Ho, HTB
Britschgi, C
Rufenacht, V
Meili, D
Bobrowski, E
Philippe, P
Nava, C
Van Maldergem, L
Bruggmann, R
Walitza, S
Wang, J
Grunblatt, E
Thony, B
AF Adamsen, Dea
Ramaekers, Vincent
Ho, Horace T. B.
Britschgi, Corinne
Ruefenacht, Veronique
Meili, David
Bobrowski, Elise
Philippe, Paule
Nava, Caroline
Van Maldergem, Lionel
Bruggmann, Remy
Walitza, Susanne
Wang, Joanne
Gruenblatt, Edna
Thoeny, Beat
TI Autism spectrum disorder associated with low serotonin in CSF and
mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT)
gene
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Serotonin end-metabolite 5-hydroxyindolacetic
acid; SERT; PMAT
ID 1ST-DEGREE RELATIVES; BRAIN-DEVELOPMENT; NEURONS; DISRUPTION; BEHAVIORS;
CHILDREN
AB Background: Patients with autism spectrum disorder (ASD) may have low brain serotonin concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in cerebrospinal fluid (CSF).
Methods: We sequenced the candidate genes SLC6A4 (SERT), SLC29A4 (PMAT), and GCHFR (GFRP), followed by whole exome analysis.
Results: The known heterozygous p.Gly56Ala mutation in the SLC6A4 gene was equally found in the ASD and control populations. Using a genetic candidate gene approach, we identified, in 8 patients of a cohort of 248 with ASD, a high prevalence (3.2%) of three novel heterozygous non-synonymous mutations within the SLC29A4 plasma membrane monoamine transporter (PMAT) gene, c.86A > G (p.Asp29Gly) in two patients, c.412G > A (p.Ala138Thr) in five patients, and c.978 T > G (p.Asp326Glu) in one patient. Genome analysis of unaffected parents confirmed that these PMAT mutations were not de novo but inherited mutations. Upon analyzing over 15,000 normal control chromosomes, only SLC29A4 c.86A > G was found in 23 alleles (0.14%), while neither c.412G > A (<0.007%) nor c.978 T > G (<0.007%) were observed in all chromosomes analyzed, emphasizing the rareness of the three alterations. Expression of mutations PMAT-p.Ala138Thr and p.Asp326Glu in cellulae revealed significant reduced transport uptake activity towards a variety of substrates including serotonin, dopamine, and 1-methyl-4-phenylpyridinium (MPP+), while mutation p.Asp29Gly had reduced transport activity only towards MPP+. At least two ASD subjects with either the PMAT-Ala138Thr or the PMAT-Asp326Glu mutation with altered serotonin transport activity had, besides low 5HIAA in CSF, elevated serotonin levels in blood and platelets. Moreover, whole exome sequencing revealed additional alterations in these two ASD patients in mainly serotonin-homeostasis genes compared to their non-affected family members.
Conclusions: Our findings link mutations in SLC29A4 to the ASD population although not invariably to low brain serotonin. PMAT dysfunction is speculated to raise serotonin prenatally, exerting a negative feedback inhibition through serotonin receptors on development of serotonin networks and local serotonin synthesis. Exome sequencing of serotonin homeostasis genes in two families illustrated more insight in aberrant serotonin signaling in ASD.
C1 [Adamsen, Dea; Ruefenacht, Veronique; Thoeny, Beat] Univ Zurich, Dept Pediat, Div Metab, CH-8032 Zurich, Switzerland.
[Adamsen, Dea; Walitza, Susanne; Gruenblatt, Edna; Thoeny, Beat] Univ Zurich, Neurosci Ctr Zurich, CH-8000 Zurich, Switzerland.
[Adamsen, Dea; Walitza, Susanne; Gruenblatt, Edna; Thoeny, Beat] ETH Zurich ZNZ, CH-8000 Zurich, Switzerland.
[Adamsen, Dea; Thoeny, Beat] Childrens Res Ctr CRC, CH-8032 Zurich, Switzerland.
[Ramaekers, Vincent; Philippe, Paule] Univ Hosp Liege, Ctr Autism Liege, B-4000 Liege, Belgium.
[Ramaekers, Vincent; Philippe, Paule] Univ Hosp Liege, Div Pediat Neurol, B-4000 Liege, Belgium.
[Ho, Horace T. B.; Wang, Joanne] Univ Washington, Dept Pharmaceut, Seattle, WA 98195 USA.
[Britschgi, Corinne; Meili, David; Thoeny, Beat] Univ Zurich, Dept Pediat, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland.
[Bobrowski, Elise; Walitza, Susanne; Gruenblatt, Edna] Univ Zurich, Univ Clin Child & Adolescent Psychiat, CH-8050 Zurich, Switzerland.
[Nava, Caroline] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Human Genet, F-75651 Paris, France.
[Van Maldergem, Lionel] Univ Franche Comte, Ctr Human Genet, F-25030 Besancon, France.
[Bruggmann, Remy] Univ Zurich, ETH Zurich, Funct Genom Ctr Zurich, CH-8057 Zurich, Switzerland.
[Walitza, Susanne; Thoeny, Beat] Univ Zurich, Zurich Ctr Integrat Human Physiol ZIHP, CH-8000 Zurich, Switzerland.
RP Thony, B (reprint author), Univ Zurich, Dept Pediat, Div Metab, CH-8032 Zurich, Switzerland.
EM beat.thony@kispi.uzh.ch
FU "Fonds National de Recherches Scientifiques", Belgium (FNRS)
[3.4.540.09.F]; Centre for Neuroscience Zurich; Swiss National Science
Foundation; Novartis "Stiftung fur medizinisch-biologische Forschung";
National Institutes of Health [GM066233]; University Children's Hospital
Zurich
FX We thank Anahita Rassi for technical assistance, Nenad Blau for valuable
discussions, and the University Children's Hospital Zurich for their
general support. This project was supported by grants from the "Fonds
National de Recherches Scientifiques", Belgium (FNRS No: 3.4.540.09.F to
VR), the Centre for Neuroscience Zurich (to BT), the Swiss National
Science Foundation (to BT), Novartis "Stiftung fur
medizinisch-biologische Forschung" (to BT), and the National Institutes
of Health (GM066233 to JW).
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NR 45
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD AUG 13
PY 2014
VL 5
AR 43
DI 10.1186/2040-2392-5-43
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2NA
UT WOS:000341159100001
PM 25802735
ER
PT J
AU Gimelli, S
Capra, V
Di Rocco, M
Leoni, M
Mirabelli-Badenier, M
Schiaffino, MC
Fiorio, P
Cuoco, C
Gimelli, G
Tassano, E
AF Gimelli, Stefania
Capra, Valeria
Di Rocco, Maja
Leoni, Massimiliano
Mirabelli-Badenier, Marisol
Schiaffino, Maria Cristina
Fiorio, Patrizia
Cuoco, Cristina
Gimelli, Giorgio
Tassano, Elisa
TI Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are
associated with a wide spectrum of neurodevelopmental disorders
SO MOLECULAR CYTOGENETICS
LA English
DT Article
DE IMMP2L; Neurodevelopmental disorders; Copy number variation; Array-CGH
ID TOURETTE-SYNDROME; MITOCHONDRIAL DYSFUNCTION; AUTISM; ACTIVATION;
BREAKPOINT; MUTATION
AB Background: Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel microdeletion/microduplication syndromes were identified. These findings suggest that some genomic disorders have high penetrance but a wide range of phenotypic severity.
Results: We present the clinical and molecular description of four unrelated patients affected by neurodevelopmental disorders and overlapping 7q31.1 microdeletion/microduplication, identified by array-CGH and involving only part of the IMMP2L gene.
Conclusion: IMMP2L encodes an inner mitochondrial membrane protease-like protein, which is required for processing of cytochromes inside mitochondria. Numerous studies reported that this gene is implicated in behavioural disorders such as autistic spectrum disorders, attention-deficit hyperactivity disorders, and Gilles de la Tourette syndrome. We discuss the functions of the gene suggesting that IMMP2L may act as risk factor for neurological disease.
C1 [Gimelli, Stefania] Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland.
[Capra, Valeria] Ist Giannina Gaslini, UO Neurochirurg, I-16147 Genoa, Italy.
[Di Rocco, Maja] Ist Giannina Gaslini, USD Malattie Rare, I-16147 Genoa, Italy.
[Leoni, Massimiliano] Ist Giannina Gaslini, I-16147 Genoa, Italy.
[Mirabelli-Badenier, Marisol] Univ Genoa, DINOMGI Dipartimento, Genoa, Italy.
[Schiaffino, Maria Cristina] Ist Giannina Gaslini, Dipartimento Pediat, Genoa, Italy.
[Fiorio, Patrizia; Cuoco, Cristina; Gimelli, Giorgio; Tassano, Elisa] Ist Giannina Gaslini, Lab Citogenet, I-16147 Genoa, Italy.
RP Tassano, E (reprint author), Ist Giannina Gaslini, Lab Citogenet, I-16147 Genoa, Italy.
EM eli.tassano@gmail.com
FU Cinque per mille dell'IRPEF-Finanziamento della ricerca sanitaria;
Finanziamento Ricerca Corrente, Ministero Salute (contributo per la
ricerca intramurale)
FX We thank the patient's parents for their kind participation and support.
We are grateful to Marco Bertorello and Corrado Torello for their
technical assistance. This work was supported by "Cinque per mille
dell'IRPEF-Finanziamento della ricerca sanitaria" and "Finanziamento
Ricerca Corrente, Ministero Salute" (contributo per la ricerca
intramurale).
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Battye R, 2001, J NEUROSCI, V21, P4290
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NR 19
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1755-8166
J9 MOL CYTOGENET
JI Mol. Cytogenet.
PD AUG 13
PY 2014
VL 7
AR 54
DI 10.1186/s13039-014-0054-y
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AN7TM
UT WOS:000340803500001
PM 25478008
ER
PT J
AU Meilleur, AAS
Berthiaume, C
Bertone, A
Mottron, L
AF Meilleur, Andree-Anne S.
Berthiaume, Claude
Bertone, Armando
Mottron, Laurent
TI Autism-Specific Covariation in Perceptual Performances: "g'' or "p''
Factor?
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; GENERAL INTELLIGENCE; PITCH
DISCRIMINATION; GABA CONCENTRATION; ASPERGER SYNDROME; AUDITORY-CORTEX;
INSPECTION TIME; VISUAL-CORTEX; SENSITIVITY
AB Background: Autistic perception is characterized by atypical and sometimes exceptional performance in several low- (e.g., discrimination) and mid-level (e. g., pattern matching) tasks in both visual and auditory domains. A factor that specifically affects perceptive abilities in autistic individuals should manifest as an autism-specific association between perceptual tasks. The first purpose of this study was to explore how perceptual performances are associated within or across processing levels and/or modalities. The second purpose was to determine if general intelligence, the major factor that accounts for covariation in task performances in non-autistic individuals, equally controls perceptual abilities in autistic individuals.
Methods: We asked 46 autistic individuals and 46 typically developing controls to perform four tasks measuring low-or mid-level visual or auditory processing. Intelligence was measured with the Wechsler's Intelligence Scale (FSIQ) and Raven Progressive Matrices (RPM). We conducted linear regression models to compare task performances between groups and patterns of covariation between tasks. The addition of either Wechsler's FSIQ or RPM in the regression models controlled for the effects of intelligence.
Results: In typically developing individuals, most perceptual tasks were associated with intelligence measured either by RPM or Wechsler FSIQ. The residual covariation between unimodal tasks, i.e. covariation not explained by intelligence, could be explained by a modality-specific factor. In the autistic group, residual covariation revealed the presence of a plurimodal factor specific to autism.
Conclusions: Autistic individuals show exceptional performance in some perceptual tasks. Here, we demonstrate the existence of specific, plurimodal covariation that does not dependent on general intelligence (or "g'' factor). Instead, this residual covariation is accounted for by a common perceptual process (or "p'' factor), which may drive perceptual abilities differently in autistic and non-autistic individuals.
C1 [Meilleur, Andree-Anne S.; Berthiaume, Claude; Bertone, Armando; Mottron, Laurent] Univ Montreal, Hop Riviere Des Prairies, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ, Canada.
[Bertone, Armando] McGill Univ, Sch Appl Child Psychol, Dept Educ & Counselling Psychol, Montreal, PQ, Canada.
RP Mottron, L (reprint author), Univ Montreal, Hop Riviere Des Prairies, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ, Canada.
EM laurent.mottron@gmail.com
FU CIHR [171795]; Autism Speaks Foundation [2706]; Frederick Banting and
Charles Best Canada Graduate Scholarships Doctoral Award (CGS-D)
FX This work was supported by grants from CIHR (171795); Autism Speaks
Foundation (2706) and the Frederick Banting and Charles Best Canada
Graduate Scholarships Doctoral Award (CGS-D) (AASM). The funders had no
role in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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NR 63
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 12
PY 2014
VL 9
IS 8
AR e103781
DI 10.1371/journal.pone.0103781
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3LJ
UT WOS:000341230400023
PM 25117450
ER
PT J
AU Calderon-Garciduenas, L
Torres-Jardon, R
Kulesza, RJ
Park, SB
D'Angiulli, A
AF Calderon-Garciduenas, Lilian
Torres-Jardon, Ricardo
Kulesza, Randy J.
Park, Su-Bin
D'Angiulli, Amedeo
TI Air pollution and detrimental effects on children's brain. The need for
a multidisciplinary approach to the issue complexity and challenges
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE urban children; air pollution; cognition; brain volumetric changes;
white matter hyperintensities; cytokines; Alzheimer; Parkinson
ID PARTICULATE MATTER; SYSTEMIC INFLAMMATION; SUPERIOR OLIVE; MEXICO-CITY;
EXPOSURE; AUTISM; HEALTH; NANOPARTICLES; COGNITION; RISK
AB Millions of children in polluted cities are showing brain detrimental effects. Urban children exhibit brain structural and volumetric abnormalities, systemic inflammation, olfactory, auditory, vestibular and cognitive deficits v low-pollution controls. Neuroinflammation and blood-brain-barrier (BBB) breakdown target the olfactory bulb, prefrontal cortex and brainstem, but are diffusely present throughout the brain. Urban adolescent Apolipoprotein E4 carriers significantly accelerate Alzheimer pathology. Neurocognitive effects of air pollution are substantial, apparent across all populations, and potentially clinically relevant as early evidence of evolving neurodegenerative changes. The diffuse nature of the neuroinflammation and neurodegeneration forces to employ a weight of evidence approach incorporating current clinical, cognitive, neurophysiological, radiological and epidemiological research. Pediatric air pollution research requires extensive multidisciplinary collaborations to accomplish a critical goal: to protect exposed children through multidimensional interventions having both broad impact and reach. Protecting children and teens from neural effects of air pollution should be of pressing importance for public health.
C1 [Calderon-Garciduenas, Lilian] Univ Montana, Ctr Struct & Funct Neurosci, Dept Biomed Sci, Missoula, MT 59812 USA.
[Torres-Jardon, Ricardo] Univ Nacl Autonoma Mexico, Ctr Ciencias Atmosfera, Mexico City 04510, DF, Mexico.
[Kulesza, Randy J.] Lake Erie Coll Osteopath Med, Auditory Res Ctr, Erie, PA USA.
[Park, Su-Bin; D'Angiulli, Amedeo] Carleton Univ, NICER Lab, Neurosci Imagery Cognit & Emot Res Lab, Ottawa, ON K1S 5B6, Canada.
RP D'Angiulli, A (reprint author), Carleton Univ, NICER Lab, Neurosci Imagery Cognit & Emot Res Lab, IIS, 1125 Colonel Dr,Dunton Tower,Room 2202A, Ottawa, ON K1S 5B6, Canada.
EM amedeo@connect.carleton.ca
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NR 52
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 12
PY 2014
VL 8
AR 613
DI 10.3389/fnhum.2014.00613
PG 7
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6NB
UT WOS:000340710100001
PM 25161617
ER
PT J
AU Abney, DH
Warlaumont, AS
Haussman, A
Ross, JM
Wallot, S
AF Abney, Drew H.
Warlaumont, Anne S.
Haussman, Anna
Ross, Jessica M.
Wallot, Sebastian
TI Using nonlinear methods to quantify changes in infant limb movements and
vocalizations
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE motor development; infant vocalization; nonlinear methods; recurrence;
Allan factor
ID MOTOR DEVELOPMENT; LANGUAGE-DEVELOPMENT; SPONTANEOUS KICKING; UPRIGHT
LOCOMOTION; SPEECH DEVELOPMENT; COORDINATION; AUTISM; COGNITION;
CHILDREN; DYNAMICS
AB The pairing of dynamical systems theory and complexity science brings novel concepts and methods to the study of infant motor development. Accordingly, this longitudinal case study presents a new approach to characterizing the dynamics of infant limb and vocalization behaviors. A single infant's vocalizations and limb movements were recorded from 51-days to 305-days of age. On each recording day, accelerometers were placed on all four of the infant's limbs and an audio recorder was worn on the child's chest. Using nonlinear time series analysis methods, such as recurrence quantification analysis and Allan factor, we quantified changes in the stability and multiscale properties of the infant's behaviors across age as well as how these dynamics relate across modalities and effectors. We observed that particular changes in these dynamics preceded or coincided with the onset of various developmental milestones. For example, the largest changes in vocalization dynamics preceded the onset of canonical babbling. The results show that nonlinear analyses can help to understand the functional co-development of different aspects of infant behavior.
C1 [Abney, Drew H.; Warlaumont, Anne S.; Ross, Jessica M.] Univ Calif, Merced, CA USA.
[Wallot, Sebastian] Aarhus Univ, Dept Culture & Society, Interacting Minds Ctr, Aarhus, Denmark.
RP Abney, DH (reprint author), Univ Calif, Sch Social Sci Humanities & Arts, 5200 North Lake Rd, Merced, CA 95343 USA.
EM drewabney@gmail.com
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NR 113
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 12
PY 2014
VL 5
AR 771
DI 10.3389/fpsyg.2014.00771
PG 15
WC Psychology, Multidisciplinary
SC Psychology
GA AO5EP
UT WOS:000341366500001
PM 25161629
ER
PT J
AU Kasirer, A
Mashal, N
AF Kasirer, Anat
Mashal, Nira
TI Verbal creativity in autism: comprehension and generation of metaphoric
language in high-functioning autism spectrum disorder and typical
development
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism; novel metaphors; executive functioning; metaphor generation
ID VEGETATIVE STATE; AUTOBIOGRAPHICAL MEMORY; CONSCIOUSNESS; HABITUATION;
COGNITION; STIMULI; BRAIN; ATTENTION; AWARENESS; EMOTION
AB Studies on creativity in participants with autism generally show impoverished performance as well as deficient comprehension of metaphoric language. However, very little is known about the ability to generate metaphors in this population. The present study examines verbal creativity in adults with autism-spectrum disorder (ASD) through tasks that rely on novel metaphoric language. Seventeen adults with ASD (mean age = 21.06) and 17 typically developing peers (mean age = 22.71) participated in the study. A multiple-choice questionnaire consisting of conventional and novel metaphors was used to test comprehension, and a sentence completion questionnaire was used to test generation of creative language. Results show similar performance in comprehension of conventional and novel metaphors in both groups, whereas adults with ASD generated more creative metaphors relative to the control group. Scores on tests of vocabulary and naming contributed to the prediction of conventional metaphor comprehension, while scores on tests of mental flexibility contributed to the prediction of novel metaphor comprehension. In addition, scores on a test of non-verbal intelligence contributed to the prediction of metaphor generation. The study points to unique verbal creativity in ASD.
C1 [Kasirer, Anat; Mashal, Nira] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Mashal, Nira] Bar Ilan Univ, Gonda Multidisciplinary Brain Res Ctr, IL-52900 Ramat Gan, Israel.
RP Mashal, N (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM nmashal2@gmail.com
RI Ma, Min/F-6963-2010
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NR 45
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD AUG 11
PY 2014
VL 8
AR 615
DI 10.3389/fnhum.2014.00615
PG 13
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN6MR
UT WOS:000340709100001
PM 25157225
ER
PT J
AU Xuan, ICY
Hampson, DR
AF Xuan, Ingrid C. Y.
Hampson, David R.
TI Gender-Dependent Effects of Maternal Immune Activation on the Behavior
of Mouse Offspring
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; SEX-DIFFERENCES; ANIMAL-MODELS; INFECTION;
SCHIZOPHRENIA; CHILDREN; RECEPTOR; BRAIN; MICE; AGE
AB Autism spectrum disorders are neurodevelopmental disorders characterized by two core symptoms; impaired social interactions and communication, and ritualistic or repetitive behaviors. Both epidemiological and biochemical evidence suggests that a subpopulation of autistics may be linked to immune perturbations that occurred during fetal development. These findings have given rise to an animal model, called the "maternal immune activation'' model, whereby the offspring from female rodents who were subjected to an immune stimulus during early or mid-pregnancy are studied. Here, C57BL/6 mouse dams were treated mid-gestation with saline, lipopolysaccharide (LPS) to mimic a bacterial infection, or polyinosinic: polycytidylic acid (Poly IC) to mimic a viral infection. Autism-associated behaviors were examined in the adult offspring of the treated dams. Behavioral tests were conducted to assess motor activity, exploration in a novel environment, sociability, and repetitive behaviors, and data analyses were carried independently on male and female mice. We observed a main treatment effect whereby male offspring from Poly IC-treated dams showed reduced motor activity. In the marble burying test of repetitive behavior, male offspring but not female offspring from both LPS and Poly IC-treated mothers showed increased marble burying. Our findings indicate that offspring from mothers subjected to immune stimulation during gestation show a gender-specific increase in stereotyped repetitive behavior.
C1 [Xuan, Ingrid C. Y.; Hampson, David R.] Univ Toronto, Leslie Dan Fac Pharm, Dept Pharmaceut Sci, Toronto, ON, Canada.
[Hampson, David R.] Univ Toronto, Dept Pharmacol & Toxicol, Fac Med, Toronto, ON, Canada.
RP Hampson, DR (reprint author), Univ Toronto, Leslie Dan Fac Pharm, Dept Pharmaceut Sci, Toronto, ON, Canada.
EM d.hampson@utoronto.ca
FU Canadian Institutes for Health Research (CIHR); CIHR Strategic Training
Program in Biological Therapeutics
FX This work was supported by the Canadian Institutes for Health Research
(CIHR) and the CIHR Strategic Training Program in Biological
Therapeutics. The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 52
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 11
PY 2014
VL 9
IS 8
AR e104433
DI 10.1371/journal.pone.0104433
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO1WB
UT WOS:000341105100057
PM 25111339
ER
PT J
AU Gonzalez-Valenzuela, MJ
Garcia-Fortea, P
Delgado-Rios, M
Cazorla-Granados, O
Blasco-Alonso, M
Gonzalez-Mesa, E
AF Jose Gonzalez-Valenzuela, Maria
Garcia-Fortea, Pedro
Delgado-Rios, Myriam
Cazorla-Granados, Olga
Blasco-alonso, Marta
Gonzalez-Mesa, Ernesto
TI Effects of oxytocin used during delivery on development: A retrospective
cohort study
SO JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
LA English
DT Article
DE Uterine stimulants; Retrospective cohort study; Psychological
development disability; Synthetic oxytocin; Battelle Inventory
ID LOGISTIC-REGRESSION ANALYSIS; AUTISM SPECTRUM DISORDERS;
PITUITARY-ADRENAL AXIS; SOCIAL BEHAVIORS; VASOPRESSIN; LABOR; RECEPTOR;
BRAIN; RISK; INDUCTION
AB Objective: The objective was to evaluate the potential influence of oxytocin administered during delivery on children's development at the age of 5. Method: This study was designed as a retrospective cohort study where children from patients given synthetic oxytocin during delivery were considered as the exposed cohort and children from patients not given oxytocin as the nonexposed cohort. From a total of 7465 births attended at our maternity ward in 2006, an initial sample of 400 was randomly selected. A total of 148 children were evaluated using the Battelle Developmental Inventory. Potential confounding and adjustment factors were analyzed using stratified analysis and multivariate analysis (logistic regression). Results: Oxytocin use did not significantly affect the overall risk of developmental delay in the study sample (relative risk, RR, 1.46; 95% confidence interval, CI [0.79-2.71]). The best fit regression model included twin delivery, type of delivery, and maternal age. In the group of vaginal noninstrumental deliveries, oxytocin administration increased the risk of poor Battelle Developmental Inventory outcome, particularly when maternal age was under 28 or over 35 years of age (odds ratio, OR, 67.14; 95% CI [5.46-824.86]). When delivery was instrumental or through cesarean section in mothers aged 28-35 years, oxytocin administration decreased the risk of developmental disorders (OR 0.16; 95% CI [0.04-0.66]). Conclusion: Although oxytocin administration during delivery did not affect the overall risk of low Battelle Developmental Inventory scores in the study sample, some effects were seen according to maternal age and type of birth.
C1 [Jose Gonzalez-Valenzuela, Maria; Delgado-Rios, Myriam; Cazorla-Granados, Olga] Univ Malaga, Fac Psychol, Dept Dev & Educ Psychol, Malaga 29011, Spain.
[Garcia-Fortea, Pedro; Blasco-alonso, Marta; Gonzalez-Mesa, Ernesto] Univ Malaga, Malaga Obstet & Gynecol Res Grp, IBIMA, Malaga 29011, Spain.
RP Gonzalez-Mesa, E (reprint author), Univ Malaga, Obstet & Gynecol Res Grp, IBIMA, Arroyo Angeles S-N, Malaga 29011, Spain.
EM egonzalezmesa@gmail.com
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NR 62
TC 0
Z9 0
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1380-3395
EI 1744-411X
J9 J CLIN EXP NEUROPSYC
JI J. Clin. Exp. Neuropsychol.
PD AUG 9
PY 2014
VL 36
IS 7
BP 680
EP 690
DI 10.1080/13803395.2014.926864
PG 11
WC Psychology, Clinical; Clinical Neurology; Psychology
SC Psychology; Neurosciences & Neurology
GA AR0XK
UT WOS:000343298000002
PM 24915966
ER
PT J
AU Fantasia, V
De Jaegher, H
Fasulo, A
AF Fantasia, Valentina
De Jaegher, Hanne
Fasulo, Alessandra
TI We can work it out: an enactive look at cooperation
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE cooperation; development; autism; infancy; social interaction;
participatory sense-making
ID JOINT ACTION; AUTISM; INTENTIONS; CHILDREN; COMMUNICATION; ATTENTION;
COGNITION; LANGUAGE; OTHERS; INTERSUBJECTIVITY
AB The past years have seen an increasing debate on cooperation and its unique human character. Philosophers and psychologists have proposed that cooperative activities are characterized by shared goals to which participants are committed through the ability to understand each other's intentions. Despite its popularity, some serious issues arise with this approach to cooperation. First, one may challenge the assumption that high-level mental processes are necessary for engaging in acting cooperatively. If they are, then how do agents that do not possess such ability (preverbal children, or children with autism who are often claimed to be mind-blind) engage in cooperative exchanges, as the evidence suggests? Secondly, to define cooperation as the result of two de-contextualized minds reading each other's intentions may fail to fully acknowledge the complexity of situated, interactional dynamics and the interplay of variables such as the participants' relational and personal history and experience. In this paper we challenge such accounts of cooperation, calling for an embodied approach that sees cooperation not only as an individual attitude toward the other, but also as a property of interaction processes. Taking an enactive perspective, we argue that cooperation is an intrinsic part of any interaction, and that there can be cooperative interaction before complex communicative abilities are achieved. The issue then is not whether one is able or not to read the other's intentions, but what it takes to participate in joint action. From this basic account, it should be possible to build up more complex forms of cooperation as needed. Addressing the study of cooperation in these terms may enhance our understanding of human social development, and foster our knowledge of different ways of engaging with others, as in the case of autism.
C1 [Fantasia, Valentina; Fasulo, Alessandra] Univ Portsmouth, Ctr Situated Act & Commun, Dept Psychol, Portsmouth PO1 2DY, Hants, England.
[De Jaegher, Hanne] Univ Basque Country, IAS Res Ctr Life Mind & Soc, Dept Log & Philosophy Sci, San Sebastian 20018, Spain.
[De Jaegher, Hanne] Univ Sussex, Ctr Computat Neurosci & Robot, Brighton, E Sussex, England.
RP Fantasia, V (reprint author), Univ Portsmouth, Ctr Situated Act & Commun, Dept Psychol, King Henry 1 St, Portsmouth PO1 2DY, Hants, England.
EM valentina.fantasia@port.ac.uk; h.de.jaegher@gmail.com
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NR 132
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 8
PY 2014
VL 5
AR 874
DI 10.3389/fpsyg.2014.00874
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AN8XM
UT WOS:000340889200001
PM 25152745
ER
PT J
AU Pakarinen, S
Sokka, L
Leinikka, M
Henelius, A
Korpela, J
Huotilainen, M
AF Pakarinen, Satu
Sokka, Laura
Leinikka, Marianne
Henelius, Andreas
Korpela, Jussi
Huotilainen, Minna
TI Fast determination of MMN and P3a responses to linguistically and
emotionally relevant changes in pseudoword stimuli
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Mismatch negativity (MMN); Event-related potential (ERP); Multi-feature
paradigm; Central auditory processing; Emotion; Language
ID MISMATCH NEGATIVITY MMN; INVOLUNTARY ATTENTION; BRAIN POTENTIALS;
AUDITORY-STIMULI; SENSORY MEMORY; COMPLEX SOUND; DURATION; NOVELTY;
P300; DISCRIMINATION
AB We developed a new multi-feature mismatch negativity (MMN) paradigm with two improvements: Firstly, the standard tone, a pseudoword /ta-ta/ was presented with equal probability to the nine linguistically relevant deviants, reducing the recording time by 45%. Secondly, three rare, emotionally valenced stimuli: happy, angry, and sad utterances of the standard pseudoword were included in the sequence. MMN signals reflecting the perceptual properties of the sounds were observed for all stimuli. In addition, P3a signals were observed for the rare emotionally uttered pseudowords. This 28-min paradigm allows a multi-dimensional evaluation of central speech-sound representations (MMN), and attention allocation (P3a) to emotional information content of speech. We recommend this paradigm for studies on subject groups with impairments in language or emotional information processing, such as autism spectrum disorders, attention disorders, and alexithymia. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Pakarinen, Satu; Sokka, Laura; Leinikka, Marianne; Henelius, Andreas; Korpela, Jussi; Huotilainen, Minna] Finnish Inst Occupat Hlth, FI-00250 Helsinki, Finland.
RP Pakarinen, S (reprint author), Finnish Inst Occupat Hlth, Brain & Technol Team, Topeliuksenkatu 41 a A, FI-00250 Helsinki, Finland.
EM satu.pakarinen@ttl.fi
FU SalWe Research Programme for Mind and Body [1104/10]
FX The authors thank RN Nina Lapvetelainen and Riitta Velin for their
assistance in data collection. The present study was supported by the
SalWe Research Programme for Mind and Body (Tekes - Grant 1104/10).
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NR 45
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD AUG 8
PY 2014
VL 577
BP 28
EP 33
DI 10.1016/j.neulet.2014.06.004
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AN0XY
UT WOS:000340308500006
PM 24928223
ER
PT J
AU Manzini, MC
Xiong, L
Shaheen, R
Tambunan, DE
Di Costanzo, S
Mitisalis, V
Tischfield, DJ
Cinquino, A
Ghaziuddin, M
Christian, M
Jiang, Q
Laurent, S
Nanjiani, ZA
Rasheed, S
Hill, RS
Lizarraga, SB
Gleason, D
Sabbagh, D
Salih, MA
Alkuraya, FS
Walsh, CA
AF Manzini, M. Chiara
Xiong, Lan
Shaheen, Ranad
Tambunan, Dimira E.
Di Costanzo, Stefania
Mitisalis, Vanessa
Tischfield, David J.
Cinquino, Antonella
Ghaziuddin, Mohammed
Christian, Mehtab
Jiang, Qin
Laurent, Sandra
Nanjiani, Zohair A.
Rasheed, Saima
Hill, R. Sean
Lizarraga, Sofia B.
Gleason, Danielle
Sabbagh, Diya
Salih, Mustafa A.
Alkuraya, Fowzan S.
Walsh, Christopher A.
TI CC2D1A Regulates Human Intellectual and Social Function as well as
NF-kappa B Signaling Homeostasis
SO CELL REPORTS
LA English
DT Article
ID NONSYNDROMIC MENTAL-RETARDATION; C2 DOMAIN PROTEIN; NOTCH; GENE;
IDENTIFICATION; TRAFFICKING; PLASTICITY; DROSOPHILA; DISORDERS;
RECEPTORS
AB Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive "founder" mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including mild-to-severe ID, ASD, as well as seizures, suggesting shared developmental mechanisms. CC2D1A regulates multiple intracellular signaling pathways, and we found its strongest effect to be on the transcription factor nuclear factor kappa B (NF-kappa B). Cc2d1a gain and loss of function both increase activation of NF-kappa B, revealing a critical role of Cc2d1a in homeostatic control of intracellular signaling. Cc2d1a knockdown in neurons reduces dendritic complexity and increases NF-kappa B activity, and the effects of Cc2d1a depletion can be rescued by inhibiting NF-kappa B activity. Homeostatic regulation of neuronal signaling pathways provides a mechanism whereby common founder mutations could manifest diverse symptoms in different patients.
C1 [Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Howard Hughes Med Inst, Chevy Chase, MD 20815 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Manzini, M. Chiara; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA.
[Xiong, Lan; Jiang, Qin] Univ Montreal, Montreal Mental Hlth Univ Inst, Res Ctr, Dept Psychiat, Montreal, PQ H1N 3V2, Canada.
[Xiong, Lan; Christian, Mehtab; Laurent, Sandra] Univ Montreal Hosp, Res Ctr, Montreal, PQ H2L 2W5, Canada.
[Shaheen, Ranad; Sabbagh, Diya; Alkuraya, Fowzan S.] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia.
[Ghaziuddin, Mohammed] Univ Michigan Hlth Syst, Dept Child & Adolescent Psychiat, Ann Arbor, MI 48109 USA.
[Nanjiani, Zohair A.] Univ Karachi, Ma Ayesha Mem Ctr, Karachi 75350, Pakistan.
[Rasheed, Saima] Autism Inst, Karachi 74000, Pakistan.
[Salih, Mustafa A.] King Saud Univ, Coll Med, Dept Pediat, Div Pediat Neurol, Riyadh 11461, Saudi Arabia.
[Walsh, Christopher A.] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.
RP Salih, MA (reprint author), King Saud Univ, Coll Med, Dept Pediat, Div Pediat Neurol, Riyadh 11461, Saudi Arabia.
EM mustafa_salih05@yahoo.com; falkuraya@kfshrc.edu.sa;
christopher.walsh@childrens.harvard.edu
FU NIH [R01MH083565, R01NS032457, R00HD067379]; Simons Foundation; KACST
[13-BIO1113-20]; Centro per la Comunicazione e Ricerca del Collegio
Ghislieri; Hearst Fund; Manton Center for Orphan Disease Research;
Deanship of Scientific Research, King Saud University, Riyadh, Saudi
Arabia [RGP-VPP-301]; Italian National Research Council; Giovanni
Armenise-Harvard Foundation
FX The authors would like to thank the families for their constant
availability and collaboration, Dilenny Gonzalez and Daniel Rakiec for
technical help, Adria Bodell for help with patient recruitment, Tom
Maynard at the George Washington University for help with qPCR, and the
Genotyping and Sequencing Core Facility at KFSHRC for help with analysis
of families 1 and 2. They are also grateful to Jenny Yang, Tim Yu, and
Adam Oaks for helpful discussion. Research was supported by grants from
the NIH (R01MH083565 and R01NS032457 to C.A.W. and R00HD067379 to
M.C.M.) the Simons Foundation (to C.A.W.), and KACST (Grant
13-BIO1113-20 to F.S.A.). M.C.M. was also supported by grants from the
Centro per la Comunicazione e Ricerca del Collegio Ghislieri, the Hearst
Fund, and the Manton Center for Orphan Disease Research. M.A.S. was
supported by the Deanship of Scientific Research, King Saud University,
Riyadh, Saudi Arabia through the research group project number
RGP-VPP-301. A.C. was supported by a fellowship from the Italian
National Research Council and the Giovanni Armenise-Harvard Foundation.
C.A.W. is an Investigator of the Howard Hughes Medical Institute.
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NR 33
TC 0
Z9 0
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD AUG 7
PY 2014
VL 8
IS 3
BP 647
EP 655
DI 10.1016/j.celrep.2014.06.039
PG 9
WC Cell Biology
SC Cell Biology
GA AO7ZR
UT WOS:000341572200001
PM 25066123
ER
PT J
AU Wada, M
Suzuki, M
Takaki, A
Miyao, M
Spence, C
Kansaku, K
AF Wada, Makoto
Suzuki, Mayuko
Takaki, Akiko
Miyao, Masutomo
Spence, Charles
Kansaku, Kenji
TI Spatio-temporal processing of tactile stimuli in autistic children
SO SCIENTIFIC REPORTS
LA English
DT Article
ID TEMPORAL-ORDER JUDGMENT; RUBBER HAND ILLUSION; SPECTRUM DISORDERS;
REFERENCE FRAMES; BRAIN; PERCEPTION; SELF; REPRESENTATIONS; VISION;
SPACE
AB Altered multisensory integration has been reported in autism; however, little is known concerning how the autistic brain processes spatio-temporal information concerning tactile stimuli. We report a study in which a crossed-hands illusion was investigated in autistic children. Neurotypical individuals often experience a subjective reversal of temporal order judgments when their hands are stimulated while crossed, and the illusion is known to be acquired in early childhood. However, under those conditions where the somatotopic representation is given priority over the actual spatial location of the hands, such reversals may not occur. Here, we showed that a significantly smaller illusory reversal was demonstrated in autistic children than in neurotypical children. Furthermore, in an additional experiment, the young boys who had higher Autism Spectrum Quotient (AQ) scores generally showed a smaller crossed hands deficit. These results suggest that rudimentary spatio-temporal processing of tactile stimuli exists in autistic children, and the altered processing may interfere with the development of an external frame of reference in real-life situations.
C1 [Wada, Makoto; Kansaku, Kenji] Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Syst Neurosci Sect, Tokorozawa, Saitama 3598555, Japan.
[Wada, Makoto] Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Dev Disorders Sect, Tokorozawa, Saitama 3598555, Japan.
[Miyao, Masutomo] Natl Ctr Child Hlth & Dev, Dept Med Psychol, Div Dev Neuropsychol, Tokyo, Tokyo 1578535, Japan.
[Spence, Charles] Univ Oxford, Dept Expt Psychol, Crossmodal Res Lab, Oxford OX1 3UD, England.
[Kansaku, Kenji] Univ Electrocommun, Brain Sci Inspired Life Support Res, Tokyo 1828585, Japan.
RP Kansaku, K (reprint author), Natl Rehabil Ctr Persons Disabil, Inst Res, Dept Rehabil Brain Funct, Syst Neurosci Sect, Tokorozawa, Saitama 3598555, Japan.
EM kansaku-kenji@rehab.go.ip
FU MEXT [23300151]
FX This study was partly supported by a MEXT grant (#23300151) to K.
Kansaku. We would like to thank S. Iwama for technical assistance; H.
Hirose, H. Agarie, S. Kim and S. Kitazawa for their valuable comments;
and Y. Nakajima and S. Kato for their continuous encouragement.
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NR 59
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD AUG 7
PY 2014
VL 4
AR 5985
DI 10.1038/srep05985
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM7GL
UT WOS:000340033300008
PM 25100146
ER
PT J
AU Yasuda, Y
Hashimoto, R
Fukai, R
Okamoto, N
Hiraki, Y
Yamamori, H
Fujimoto, M
Ohi, K
Taniike, M
Mohri, I
Nakashima, M
Tsurusaki, Y
Saitsu, H
Matsumoto, N
Miyake, N
Takeda, M
AF Yasuda, Yuka
Hashimoto, Ryota
Fukai, Ryoko
Okamoto, Nobuhiko
Hiraki, Yoko
Yamamori, Hidenaga
Fujimoto, Michiko
Ohi, Kazutaka
Taniike, Masako
Mohri, Ikuko
Nakashima, Mitsuko
Tsurusaki, Yoshinori
Saitsu, Hirotomo
Matsumoto, Naomichi
Miyake, Noriko
Takeda, Masatoshi
TI Duplication of the NPHP1 gene in patients with autism spectrum disorder
and normal intellectual ability: a case series
SO ANNALS OF GENERAL PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; Copy-number variants; Duplication;
Nephronophthisis 1 gene; Intelligence
ID PERVASIVE DEVELOPMENTAL DISORDERS; COPY-NUMBER VARIATION; JOUBERT
SYNDROME; DE-NOVO; NEPHRONOPHTHISIS; DISABILITIES; INDIVIDUALS;
PREVALENCE; CHILDREN; NETWORK
AB Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients.
In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.
C1 [Yasuda, Yuka; Hashimoto, Ryota; Yamamori, Hidenaga; Fujimoto, Michiko; Ohi, Kazutaka; Takeda, Masatoshi] Osaka Univ, Grad Sch Med, Dept Psychiat, Suita, Osaka 5650871, Japan.
[Hashimoto, Ryota; Taniike, Masako; Mohri, Ikuko] Osaka Univ, United Grad Sch Child Dev, Mol Res Ctr Childrens Mental Dev, Suita, Osaka 5650871, Japan.
[Fukai, Ryoko] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan.
[Fukai, Ryoko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko] Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan.
[Okamoto, Nobuhiko] Osaka Med Ctr, Div Med Genet, Izumi 5941101, Japan.
[Okamoto, Nobuhiko] Res Inst Maternal & Child Hlth, Izumi 5941101, Japan.
[Hiraki, Yoko] Hiroshima Municipal Ctr Child Hlth & Dev, Hiroshima 7320052, Japan.
[Yamamori, Hidenaga] Osaka Univ, Grad Sch Med, Dept Mol Neuropsychiat, Suita, Osaka 5650871, Japan.
RP Hashimoto, R (reprint author), Osaka Univ, Grad Sch Med, Dept Psychiat, D3,2-2 Yamadaoka, Suita, Osaka 5650871, Japan.
EM hashimor@psy.med.osaka-u.ac.jp
RI Hashimoto, Ryota/P-8572-2014
OI Hashimoto, Ryota/0000-0002-5941-4238
FU Japanese Ministry of Health, Labor, and Welfare [H22-seishin-ippan-001,
H23-jitsuyouka (nanbyo)-ippan-005, H25-shinkei kin-ippan-001]; Japan
Society for the Promotion of Science (JSPS) [24249019, 22390225,
25293250, 25293085, 25293235, 24591680]; Challenging Exploratory
Research grant [23659565]; Japanese Ministry of Education, Culture,
Sports, Science, and Technology (MEXT) [25129704, 12024421, 18023045];
Strategic Research Program for Brain Sciences [11105137]; Fund for the
Creation of Innovation Centers for Advanced Interdisciplinary Research
Areas Program in the Project for Developing Innovation Systems; Japan
Foundation for Neuroscience and Mental Health; Takeda Science Foundation
FX We thank the patients and their families for participating in this
study. Additionally, we thank Ms. Y. Yamashita, Ms. E. Koike, Ms. S.
Sugimoto, Ms. N. Watanabe, and Ms. K. Takabe for their technical
assistance. This work was supported by research grants from the Japanese
Ministry of Health, Labor, and Welfare (H22-seishin-ippan-001,
H23-jitsuyouka (nanbyo)-ippan-005, H25-shinkei kin-ippan-001), the Japan
Society for the Promotion of Science (JSPS) through a Grant-in-Aid for
Scientific Research [(A) (24249019), (B) (22390225, 25293250, 25293085,
and 25293235), and (C) (24591680)] and a Challenging Exploratory
Research grant (23659565), the Japanese Ministry of Education, Culture,
Sports, Science, and Technology (MEXT) through a Grant-in-Aid for
Scientific Research in Innovative Areas (Comprehensive Brain Science
Network, 25129704) (Transcription Cycle, 12024421), Priority
Areas-Research on the Pathomechanisms of Brain Disorders (18023045), the
Strategic Research Program for Brain Sciences (11105137), the Fund for
the Creation of Innovation Centers for Advanced Interdisciplinary
Research Areas Program in the Project for Developing Innovation Systems,
the Japan Foundation for Neuroscience and Mental Health, and the Takeda
Science Foundation.
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NR 23
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-859X
J9 ANN GEN PSYCHIATR
JI Ann. Gen. Psychiatr.
PD AUG 6
PY 2014
VL 13
AR 22
DI 10.1186/s12991-014-0022-2
PG 5
WC Psychiatry
SC Psychiatry
GA AN9EO
UT WOS:000340909000001
PM 25126106
ER
PT J
AU Kulesskaya, N
Karpova, NN
Ma, L
Tian, L
Voikar, V
AF Kulesskaya, Natalia
Karpova, Nina N.
Ma, Li
Tian, Li
Voikar, Vootele
TI Mixed housing with DBA/2 mice induces stress in C57BL/6 mice:
implications for interventions based on social enrichment
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE animal model; stress; mixed housing; stress-related genes; behavioral
interventions; social enrichment; social learning
ID INBRED MOUSE STRAINS; BEHAVIORAL TASKS RELEVANT; BTBR-T+TF/J MICE;
DEFEAT STRESS; GLUCOCORTICOID-RECEPTOR; EPIGENETIC REGULATION;
ALZHEIMERS-DISEASE; ADRENAL AXIS; DEPRESSION; AUTISM
AB Several behavioral interventions, based on social enrichment and observational learning are applied in treatment of neuropsychiatric disorders. However, the mechanism of such modulatory effect and the safety of applied methods on individuals involved in social support need further investigation. We took advantage of known differences between inbred mouse strains to reveal the effect of social enrichment on behavior and neurobiology of animals with different behavioral phenotypes. C57BL/6 and DBA/2 female mice displaying multiple differences in cognitive, social, and emotional behavior were group-housed either in same-strain or in mixed-strain conditions. Comprehensive behavioral phenotyping and analysis of expression of several plasticity- and stress-related genes were done to measure the reciprocal effects of social interaction between the strains. Contrary to our expectation, mixed housing did not change the behavior of DBA/2 mice. Nevertheless, the level of serum corticosterone and the expression of glucocorticoid receptor Nr3c1 in the brain were increased in mixed housed DBA/2 as compared with those of separately housed DBA/2 mice. In contrast, socially active C57BL/6 animals were more sensitive to the mixed housing, displaying several signs of stress: alterations in learning, social, and anxiety-like behavior and anhedonia. These behavioral impairments were accompanied by the elevated serum corticosterone and the reduced expression of Nr3c1, as well as the elevated Bdnf levels in the cortex and hippocampus. Our results demonstrate the importance of social factors in modulation of both behavior and the underlying neurobiological mechanisms in stress response, and draw attention to the potential negative impact of social interventions for individuals involved in social support.
C1 [Kulesskaya, Natalia; Karpova, Nina N.; Ma, Li; Tian, Li; Voikar, Vootele] Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland.
RP Kulesskaya, N (reprint author), Univ Helsinki, Ctr Neurosci, POB 56,Viikinkaari 4, FIN-00014 Helsinki, Finland.
EM natalia.kulesskaya@helsinki.fi; nina.karpova@helsinki.fi
FU Biocenter Finland; Helsinki graduate program in biotechnology and
molecular biology; Ida Montinin saasto; Academy of Finland
FX This work was supported by Biocenter Finland, Helsinki graduate program
in biotechnology and molecular biology, Ida Montinin saasto and Academy
of Finland. We would like to thank Prof. Heikki Rauvala for critical
reading and discussion, and Sissi Pastell for animal care.
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NR 95
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD AUG 6
PY 2014
VL 8
AR 257
DI 10.3389/fnbeh.2014.00257
PG 15
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AN9BZ
UT WOS:000340902200001
PM 25147512
ER
PT J
AU Kennedy, DP
Adolphs, R
AF Kennedy, Daniel P.
Adolphs, Ralph
TI Violations of Personal Space by Individuals with Autism Spectrum
Disorder
SO PLOS ONE
LA English
DT Article
ID SOCIAL-BEHAVIOR; DIAGNOSTIC INTERVIEW; ETHOLOGICAL APPROACH; AMYGDALA;
CHILDREN; ADOLESCENTS; TRAITS; BRAIN
AB The ability to maintain an appropriate physical distance (i.e., interpersonal distance) from others is a critical aspect of social interaction and contributes importantly to real-life social functioning. In Study 1, using parent-report data that had been acquired on a large number of individuals (ages 4-18 years) for the Autism Genetic Resource Exchange and the Simons Simplex Collection, we found that those with Autism Spectrum Disorder (ASD; n = 766) more often violated the space of others compared to their unaffected siblings (n = 766). This abnormality held equally across ASD diagnostic categories, and correlated with clinical measures of communication and social functioning. In Study 2, laboratory experiments in a sample of high-functioning adults with ASD demonstrated an altered relationship between interpersonal distance and personal space, and documented a complete absence of personal space in 3 individuals with ASD. Furthermore, anecdotal self-report from several participants confirmed that violations of social distancing conventions continue to occur in real-world interactions through adulthood. We suggest that atypical social distancing behavior offers a practical and sensitive measure of social dysfunction in ASD, and one whose psychological and neurological substrates should be further investigated.
C1 [Kennedy, Daniel P.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Kennedy, Daniel P.; Adolphs, Ralph] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
RP Kennedy, DP (reprint author), Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
EM dpk@indiana.edu; radolphs@hss.caltech.edu
FU Simons Foundation [SFARI-07-01]; National Institute of Mental Health
[R01 MH080721]; Tamagawa University global Centers of Excellence program
of the Japanese Ministry of Education, Culture, Sports and Technology
FX This work was supported by the Simons Foundation (SFARI-07-01 to R.A.),
the National Institute of Mental Health (R01 MH080721 to R.A.), and the
Tamagawa University global Centers of Excellence program of the Japanese
Ministry of Education, Culture, Sports and Technology. The funders had
no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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NR 26
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 6
PY 2014
VL 9
IS 8
AR e103369
DI 10.1371/journal.pone.0103369
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM6SM
UT WOS:000339995100019
PM 25100326
ER
PT J
AU Paterson, C
Law, AJ
AF Paterson, Clare
Law, Amanda J.
TI Transient Overexposure of Neuregulin 3 during Early Postnatal
Development Impacts Selective Behaviors in Adulthood
SO PLOS ONE
LA English
DT Article
ID EPIDERMAL-GROWTH-FACTOR; DEVELOPING NEOCORTEX; RECOGNITION MEMORY;
PREFRONTAL CORTEX; ANIMAL-MODEL; SCHIZOPHRENIA; MICE; RECEPTOR;
SUSCEPTIBILITY; INTERNEURONS
AB Neuregulin 3 (NRG3), a specific ligand for ErbB4 and a neuronal-enriched neurotrophin is implicated in the genetic predisposition to a broad spectrum of neurodevelopmental, neurocognitive and neuropsychiatric disorders, including Alzheimer's disease, autism and schizophrenia. Genetic studies in schizophrenia demonstrate that risk variants in NRG3 are associated with cognitive and psychotic symptom severity, accompanied by increased expression of prefrontal cortical NRG3. Despite our expanding knowledge of genetic involvement of NRG3 in neurological disorders, little is known about the neurodevelopmental mechanisms of risk. Here we exploited the fact that a paralog of NRG3, NRG1, readily penetrates the murine blood brain barrier (BBB). In this study we synthesized the bioactive epidermal growth factor (EGF) domain of NRG3, and using previously validated in-vivo peripheral injection methodologies in neonatal mice, demonstrate that NRG3 successfully crosses the BBB, where it activates its receptor ErbB4 and downstream Akt signaling at levels of bioactivity comparable to NRG1. To determine the impact of NRG3 overexpression during one critical developmental window, C57BL/6 male mice were subcutaneously injected daily with NRG1-EGF, NRG3-EGF or vehicle from postnatal days 2-10. Mice were tested in adulthood using a comprehensive battery of behavioral tasks relevant to neurocognitive and psychiatric disorders. In agreement with previous studies, developmental overexposure to NRG1 induced multiple non-CNS mediated peripheral effects as well as severely disrupting performance of prepulse inhibition of the startle response. In contrast, NRG3 had no effect on any peripheral measures investigated or sensorimotor gating. Specifically, developmental NRG3 overexposure produced an anxiogenic-like phenotype and deficits in social behavior in adulthood. These results provide primary data to support a role for NRG3 in brain development and function, which appears to be distinct from its paralog NRG1. Furthermore we demonstrate how perturbations in NRG3 expression at distinct developmental stages may contribute to the neurological deficits observed in brain disorders such as schizophrenia and autism.
C1 [Paterson, Clare; Law, Amanda J.] Univ Colorado, Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
[Law, Amanda J.] Univ Colorado, Sch Med, Dept Cell & Dev Biol, Aurora, CO USA.
RP Law, AJ (reprint author), Univ Colorado, Sch Med, Dept Psychiat, Aurora, CO 80045 USA.
EM amanda.law@ucdenver.edu
FU National Institute of Mental Health; Brain Behavior Research
Foundations, Sidney R. Baer Jr. Award for Schizophrenia Research
FX This work was supported by funds from the Intramural Research Program,
National Institute of Mental Health, and from the Brain Behavior
Research Foundations, Sidney R. Baer Jr. Award for Schizophrenia
Research, awarded to Amanda J. Law at the University of Colorado,
Denver, School of Medicine. The funders had no role in study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 54
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD AUG 5
PY 2014
VL 9
IS 8
AR e104172
DI 10.1371/journal.pone.0104172
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BW
UT WOS:000341357200084
PM 25093331
ER
PT J
AU Hellendoorn, A
AF Hellendoorn, Annika
TI Understanding social engagement in autism: being different in perceiving
and sharing affordances
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE social cognition; theory of mind; embodied cognition; affordances;
autism spectrum disorder
ID BIOLOGICAL MOTION; YOUNG-CHILDREN; PERCEPTION; FACE; MIND; INDIVIDUALS;
RECOGNITION; DISORDER; SKILLS; SIGNS
AB In the current paper I will argue that the notion of affordances offers an alternative to theory of mind (ToM) approaches in studying social engagement in general and in explaining social engagement in autism spectrum disorder (ASD) specifically. Affordances are the possibilities for action offered by the environment. In contrast to ToM approaches, the concept of affordances implies the complementarity of person and environment and rejects the dualism of mind and behavior. In line with the Gibsonian idea that a child must eventually perceive the affordances of the environment for others as well for herself in order to become socialized, I will hypothesize that individuals with ASD often do not perceive the same affordances in the environment as other people do and have difficulties perceiving others' affordances. This can lead to a disruption of interpersonal behaviors. I will further argue that the methods for studying social engagement should be adapted if we want to take interaction into account.
C1 Univ Utrecht, Ctr Cognit & Motor Disabil, Dept Special Educ, NL-3508 TC Utrecht, Netherlands.
RP Hellendoorn, A (reprint author), Univ Utrecht, Ctr Cognit & Motor Disabil, Dept Special Educ, Heidelberglaan 1,POB 80-140, NL-3508 TC Utrecht, Netherlands.
EM A.Hellendoorn@uu.nl
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NR 48
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD AUG 4
PY 2014
VL 5
AR 850
DI 10.3389/fpsyg.2014.00850
PG 5
WC Psychology, Multidisciplinary
SC Psychology
GA AN6LJ
UT WOS:000340705700001
PM 25136327
ER
PT J
AU Hill, DA
Flores, MM
Kearley, RF
AF Hill, Doris Adams
Flores, Margaret M.
Kearley, Regina F.
TI Maximizing ESY Services: Teaching Pre-Service Teachers to Assess
Communication Skills and Implement Picture Exchange With Students With
Autism Spectrum Disorder and Developmental Disabilities
SO TEACHER EDUCATION AND SPECIAL EDUCATION
LA English
DT Article
DE PECS (TM); autism spectrum disorder; communication; pre-service
teachers; ESY Services
ID SYSTEM PECS; SPEECH DEVELOPMENT; CHILDREN; METAANALYSIS; INDIVIDUALS
AB The authors supervised and trained pre-service teachers while conducting extended school year (ESY) services for pre-kindergarten and elementary students with autism spectrum disorder (ASD) and other developmental disabilities (DD). Each classroom was responsible for conducting communication assessments and developing interventions focused on increasing functional communication. One intervention, the Picture Exchange Communication System (PECS (TM)), was taught to three pre-service teachers and staff who implemented PECS (TM) with four students who lacked functional communication skills. The teachers were mentored as they implemented the appropriate level of PECS (TM) and developed communication books for the students to use in school, home, and other settings.
C1 [Hill, Doris Adams] Auburn Univ, Dept Special Educ Rehabil & Counseling, Educ & Community Supports, Auburn, AL 36849 USA.
[Flores, Margaret M.] Auburn Univ, Dept Special Educ Rehabil & Counseling, Special Educ, Auburn, AL 36849 USA.
[Kearley, Regina F.] Auburn Univ, Special Edcuat, Auburn, AL 36849 USA.
RP Hill, DA (reprint author), Auburn Univ, Dept Special Educ Rehabil & Counseling, 215 South Donahue Dr, Auburn, AL 36849 USA.
EM hilldol@auburn.edu
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NR 29
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0888-4064
EI 1944-4931
J9 TEACH EDUC SPEC EDUC
JI Teach. Educ. Spec. Educ.
PD AUG
PY 2014
VL 37
IS 3
BP 241
EP 254
DI 10.1177/0888406414527117
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA CI3MM
UT WOS:000354651900004
ER
PT J
AU Bernardi, RE
Spanagel, R
AF Bernardi, Rick E.
Spanagel, Rainer
TI Enhanced Extinction of Contextual Fear Conditioning in Clock Delta 19
Mutant Mice
SO BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE circadian; clock; Clock Delta 19 mutant mice; contextual fear
conditioning; dopamine; extinction; modafinil
ID PLACE PREFERENCE; CIRCADIAN CLOCK; DOPAMINE; COCAINE; RECEPTOR; GENE;
ACQUISITION; BEHAVIORS; MODAFINIL; MUTATION
AB Clock genes have been implicated in several disorders, such as schizophrenia, bipolar disorder, autism spectrum disorders, and drug dependence. However, few studies to date have examined the role of clock genes in fear-related behaviors. The authors used mice with the Clock Delta 19 mutation to assess the involvement of this gene in contextual fear conditioning. Male wild-type (WT) and Clock Delta 19 mutant mice underwent a single session of contextual fear conditioning (12 min, 4 unsignaled shocks), followed by daily 12-min retention trials. There were no differences between mutant and WT mice in the acquisition of contextual fear, and WT and mutant mice demonstrated similar freezing during the first retention session. However, extinction of contextual fear was accelerated in mutant mice across the remaining retention sessions, as compared to WT mice, suggesting a role for Clock in extinction following aversive learning. Because the Clock Delta 19 mutation has previously been demonstrated to result in an increase in dopamine signaling, the authors confirmed the role of dopamine in extinction learning using preretention session administration of a low dose of the dopamine transport reuptake inhibitor modafinil (0.75 mg/kg), which resulted in decreased freezing across retention sessions. These findings are consistent with an emerging portrayal of the importance of Clock genes in noncircadian functions, as well as the important role of dopamine in extinction learning.
C1 [Bernardi, Rick E.; Spanagel, Rainer] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Inst Psychopharmacol, Mannheim, Germany.
RP Bernardi, RE (reprint author), Cent Inst Mental Hlth, Inst Psychopharmacol, J5, D-68159 Mannheim, Germany.
EM rick.bernardi@zi-mannheim.de
FU Deutsche Forschungsgemeinschaft (DFG) [SPP1226, SP 383/4-1]
FX Rick E. Bernardi was supported by a grant from the Deutsche
Forschungsgemeinschaft (DFG, SPP1226, SP 383/4-1). We report no
conflicts of interest.
CR Abraham AD, 2014, NEUROBIOL LEARN MEM, V108, P65, DOI 10.1016/j.nlm.2013.11.007
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NR 27
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0735-7044
EI 1939-0084
J9 BEHAV NEUROSCI
JI Behav. Neurosci.
PD AUG
PY 2014
VL 128
IS 4
BP 468
EP 473
DI 10.1037/a0037020
PG 6
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA CA8KQ
UT WOS:000349169300006
PM 24865659
ER
PT J
AU Bone, D
Lee, CC
Black, MP
Williams, ME
Lee, S
Levitt, P
Narayanan, S
AF Bone, Daniel
Lee, Chi-Chun
Black, Matthew P.
Williams, Marian E.
Lee, Sungbok
Levitt, Pat
Narayanan, Shrikanth
TI The Psychologist as an Interlocutor in Autism Spectrum Disorder
Assessment: Insights From a Study of Spontaneous Prosody
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism spectrum disorder; children; prosody; social communication;
assessment; dyadic interaction
ID HIGH-FUNCTIONING AUTISM; CLASSIFICATION-SYSTEM SDCS; BREATHY VOCAL
QUALITY; CHILDREN; SPEECH; COMMUNICATION; LANGUAGE; EMOTION; EXTENSIONS;
ENGAGEMENT
AB Purpose: The purpose of this study was to examine relationships between prosodic speech cues and autism spectrum disorder (ASD) severity, hypothesizing a mutually interactive relationship between the speech characteristics of the psychologist and the child. The authors objectively quantified acoustic-prosodic cues of the psychologist and of the child with ASD during spontaneous interaction, establishing a methodology for future large-sample analysis.
Method: Speech acoustic-prosodic features were semiautomatically derived from segments of semistructured interviews (Autism Diagnostic Observation Schedule, ADOS; Lord, Rutter, DiLavore, & Risi, 1999; Lord et al., 2012) with 28 children who had previously been diagnosed with ASD. Prosody was quantified in terms of intonation, volume, rate, and voice quality. Research hypotheses were tested via correlation as well as hierarchical and predictive regression between ADOS severity and prosodic cues.
Results: Automatically extracted speech features demonstrated prosodic characteristics of dyadic interactions. As rated ASD severity increased, both the psychologist and the child demonstrated effects for turn-end pitch slope, and both spoke with atypical voice quality. The psychologist's acoustic cues predicted the child's symptom severity better than did the child's acoustic cues.
Conclusion: The psychologist, acting as evaluator and interlocutor, was shown to adjust his or her behavior in predictable ways based on the child's social-communicative impairments. The results support future study of speech prosody of both interaction partners during spontaneous conversation, while using automatic computational methods that allow for scalable analysis on much larger corpora.
C1 [Bone, Daniel; Lee, Chi-Chun; Black, Matthew P.; Lee, Sungbok; Narayanan, Shrikanth] Univ So Calif, SAIL, Los Angeles, CA 90095 USA.
[Williams, Marian E.] Univ So Calif, Keck Sch Med, Univ Ctr Excellence Dev Disabil, Los Angeles, CA 90033 USA.
[Williams, Marian E.; Levitt, Pat] Childrens Hosp Los Angeles, Los Angeles, CA USA.
[Levitt, Pat] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA.
RP Bone, D (reprint author), Univ So Calif, SAIL, Los Angeles, CA 90095 USA.
EM dbone@usc.edu
FU National Science Foundation; National Institutes of Health [PL-R21
HD065289]
FX This research was supported by funds from the National Science
Foundation and by National Institutes of Health Grant PL-R21 HD065289.
We are grateful to Sylvia Acosta and Irina Zamora for their
administration of the ADOS and to Marcia Higareda for her recruiting
efforts.
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American Speech-Language-Hearing Association, 2007, CHILDH APR SPEECH
American Speech-Language-Hearing Association, 2007, TECHNICAL REPORT
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NR 70
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1162
EP 1177
DI 10.1044/2014_JSLHR-S-13-0062
PG 16
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000003
PM 24686340
ER
PT J
AU Whitehouse, AJO
Shelton, WMR
Ing, C
Newnham, JP
AF Whitehouse, Andrew J. O.
Shelton, W. M. R.
Ing, Caleb
Newnham, John P.
TI Prenatal, Perinatal, and Neonatal Risk Factors for Specific Language
Impairment: A Prospective Pregnancy Cohort Study
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE specific language impairment; prenatal; obstetric
ID OBSTETRIC COMPLICATIONS; FOLLOW-UP; AUTISM; CHILDREN; DISORDERS;
OUTCOMES; ATTRITION
AB Purpose: Although genetic factors are known to play a causal role in specific language impairment (SLI), environmental factors may also be important. This study examined whether there are prenatal, perinatal, and neonatal factors that are associated with childhood SLI.
Method: Participants were members of the Raine Study, a prospective cohort investigation of pregnant women and their offspring. Parent report indicated that 26 children had received a clinical diagnosis of SLI. Data from antenatal and birth medical records were compared between the children with SLI and typically developing comparison children (N = 1,799).
Results: There were no statistically significant differences between the SLI and comparison groups in the individual prenatal, perinatal, and neonatal factors examined. Aggregate risk scores were calculated for each period on the basis of factors known to be associated with neurodevelopmental disorder. There were no group differences in aggregate risk scores in the prenatal and perinatal periods. However, significantly more children in the SLI group (50%) compared with the comparison group (27.6%) experienced 2 or more risk factors during the neonatal period.
Conclusion: The vast majority of prenatal, perinatal, and neonatal complications do not play a clear causal role in childhood SLI. However, poor neonatal health may signify increased risk for SLI.
C1 [Whitehouse, Andrew J. O.; Shelton, W. M. R.] Univ Western Australia, Telethon Kids Inst, Perth, WA 6009, Australia.
[Ing, Caleb] Columbia Univ Coll Phys & Surg, New York, NY 10032 USA.
[Newnham, John P.] Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA 6009, Australia.
RP Whitehouse, AJO (reprint author), Univ Western Australia, Telethon Kids Inst, Perth, WA 6009, Australia.
EM awhitehouse@ichr.uwa.edu.au
FU National Health and Medical Research Council (NHMRC); University of
Western Australia (UWA); Curtin University; UWA Faculty of Medicine,
Dentistry and Health Sciences; Raine Medical Research Foundation;
Telethon Institute for Child Health Research; Women and Infants Research
Foundation; NHMRC [1004065, 1003424]
FX The authors would like to acknowledge the National Health and Medical
Research Council (NHMRC) for its long-term contribution to funding the
study over the last 20 years. Core Management of the Raine Study has
been funded by the University of Western Australia (UWA); Curtin
University; the UWA Faculty of Medicine, Dentistry and Health Sciences;
the Raine Medical Research Foundation; the Telethon Institute for Child
Health Research; and the Women and Infants Research Foundation. Andrew
J. O. Whitehouse is funded by a Career Development Fellowship from the
NHMRC (No. 1004065). This study was partly funded by NHMRC Project Grant
No. 1003424. These funders had no further role in study design,
analysis, data interpretation, or manuscript writing and submission. The
authors are extremely grateful to all of the families who took part in
this study and the whole Raine Study team, which includes the cohort
manager, data manager, and data collection team.
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[Anonymous], 1992, INT STAT CLASS DIS R
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NR 39
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1418
EP 1427
DI 10.1044/2014_JSLHR-L-13-0186
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000023
PM 24686440
ER
PT J
AU Kover, ST
Weismer, SE
AF Kover, Sara T.
Weismer, Susan Ellis
TI Lexical Characteristics of Expressive Vocabulary in Toddlers With Autism
Spectrum Disorder
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; statistical learning; vocabulary; language development;
production
ID LATE-TALKING TODDLERS; COMMUNICATIVE DEVELOPMENT; SIMILARITY
NEIGHBORHOODS; PHONOTACTIC PROBABILITY; LANGUAGE-ACQUISITION; COGNITIVE
SKILLS; WORKING-MEMORY; YOUNG-CHILDREN; INFANTS; PRESCHOOLERS
AB Purpose: Vocabulary is a domain of particular challenge for many children with autism spectrum disorder (ASD). Recent research has drawn attention to ways in which lexical characteristics relate to vocabulary acquisition. The current study tested the hypothesis that lexical characteristics account for variability in vocabulary size of young children with ASD, applying the extended statistical learning theory of vocabulary delay in late talkers (Stokes, Kern, & Dos Santos, 2012) to toddlers with ASD.
Method: Parents reported the words produced by toddlers with ASD (n = 57; age 21-37 months) or toddlers without ASD (n = 41; age 22-26 months) on the MacArthur-Bates Communicative Development Inventories. The average phonological neighborhood density, word frequency, and word length of each toddler's lexicon were calculated. These lexical characteristics served as predictors of vocabulary size.
Results: Findings differed for toddlers with and without ASD and according to subsamples. Word length was the most consistent predictor of vocabulary size for toddlers with ASD.
Conclusions: Distinct relationships between lexical characteristics and vocabulary size were observed for toddlers with and without ASD. Experimental studies on distributional cues to vocabulary acquisition are needed to inform what is known about mechanisms of learning in neurodevelopmental disorders.
C1 [Kover, Sara T.; Weismer, Susan Ellis] Waisman Ctr Mental Retardat & Human Dev, Madison, WI 53705 USA.
[Kover, Sara T.; Weismer, Susan Ellis] Univ Wisconsin, Madison, WI 53706 USA.
RP Kover, ST (reprint author), Univ Washington, Seattle, WA 98195 USA.
EM skover@u.washington.edu
FU National Institutes of Health [R01 DC07223, R01 DC03731, T32 DC05359,
P30 HD03352]
FX This research was supported by National Institutes of Health Grants R01
DC07223, R01 DC03731, T32 DC05359 (Susan Ellis Weismer, principal
investigator [PI]), and P30 HD03352 (Marsha Mailick, PI). We offer
sincere appreciation to the families who participated in this study. A
portion of these data was presented at the 2013 biennial meeting of the
Society for Research in Child Development in Seattle, Washington.
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NR 69
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD AUG
PY 2014
VL 57
IS 4
BP 1428
EP 1441
DI 10.1044/2014_JSLHR-L-13-0006
PG 14
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NF
UT WOS:000348198000024
PM 24687027
ER
PT J
AU Langone, SR
Luiselli, JK
Galvin, D
Hamill, J
AF Langone, Serra R.
Luiselli, James K.
Galvin, Denise
Hamill, Jessica
TI Effects of Fixed-Time Release Fading on Frequency and Duration of
Aggression-Contingent Physical Restraint (Protective Holding) in a Child
With Autism
SO CLINICAL CASE STUDIES
LA English
DT Article
DE physical restraint; autism; aggression; restraint reduction; fixed-time
release fading
ID BEHAVIOR; INJURY; STAFF; IMPLEMENTATION; INTERVENTION; DISABILITIES;
ADOLESCENTS; PEOPLE; SAFETY
AB We report the case of an 11-year-old boy with autism who displayed aggressive behavior and required aggression-contingent physical restraint (protective holding) to protect peers and teachers from injury. During a baseline phase, teachers implemented the boy's behavior support plan and applied protective holding according to a behavior-contingent release (BCR) criterion in which they maintained physical contact with him until he was "calm" for a minimum of 30 consecutive seconds. In the intervention phase, baseline procedures remained in effect, but the teachers terminated protective holding with the boy according to a fixed-time release (FTR) criterion that was independent of his behavior during protective holding and faded (decreased) systematically over time. In contrast to BCR, FTR fading was associated with less exposure to and fewer applications of protective holding. Post-intervention and follow-up results revealed that protective holding was no longer required. We discuss the clinical implications of these findings.
C1 [Langone, Serra R.; Luiselli, James K.; Galvin, Denise; Hamill, Jessica] May Inst, Randolph, MA 02368 USA.
RP Luiselli, JK (reprint author), May Inst, 41 Pacella Pk Dr, Randolph, MA 02368 USA.
EM jluiselli@mayinstitute.org
CR American Psychological Association, 1994, GUID EFF TREATM PERS
Association of Professional Behavior Analysts, 2010, POS STAT US RESTR SE
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NR 31
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1534-6501
EI 1552-3802
J9 CLIN CASE STUD
JI Clin. Case Stud.
PD AUG
PY 2014
VL 13
IS 4
BP 313
EP 321
DI 10.1177/1534650113509305
PG 9
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AW9PK
UT WOS:000346589300002
ER
PT J
AU Kover, ST
Haebig, E
Oakes, A
McDuffie, A
Hagerman, RJ
Abbeduto, L
AF Kover, Sara T.
Haebig, Eileen
Oakes, Ashley
McDuffie, Andrea
Hagerman, Randi J.
Abbeduto, Leonard
TI Sentence Comprehension in Boys With Autism Spectrum Disorder
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE autism; grammar; syntax; receptive language; intellectual disability
ID FRAGILE-X-SYNDROME; DEVELOPMENTAL TRAJECTORIES; INTELLECTUAL
DISABILITIES; METHODOLOGICAL ISSUES; LANGUAGE-ACQUISITION;
PRESCHOOL-CHILDREN; ADOLESCENTS; SKILLS; IMPAIRMENT; DELAY
AB Purpose: Previous research has suggested that language comprehension might be particularly impaired in children with autism spectrum disorder (ASD), but this profile has been only broadly characterized. In the current study, the authors examined sentence comprehension in school-age boys with ASD, including a subgroup with intellectual disability (ID), with particular attention paid to errors that might differentiate between lexically and syntactically based difficulties.
Method: Participants were boys with ASD (n = 45, ages 4-11 years) and younger typically developing boys (n = 45, ages 2-6 years). Comprehension was assessed with the Test for Reception of Grammar-Version 2 (TROG-2; Bishop, 2003). Error types were analyzed for a subset of items.
Results: Boys with ASD did not differ from younger typically developing boys matched on receptive vocabulary in overall sentence comprehension on the TROG-2 or the number of lexical errors committed. In contrast, the subgroup of boys with ASD and ID (n = 16) had poorer overall performance and committed more lexical errors than younger typically developing boys matched on nonverbal cognition.
Conclusions: On average, comprehension was delayed in school-age boys with ASD but not beyond receptive vocabulary expectations. Boys with ASD and ID, however, had a weakness in sentence comprehension beyond nonverbal cognitive expectations.
C1 [Kover, Sara T.; Haebig, Eileen] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA.
[Oakes, Ashley; McDuffie, Andrea; Hagerman, Randi J.; Abbeduto, Leonard] Univ Calif Davis, Davis, CA 95616 USA.
RP Kover, ST (reprint author), Univ Washington, Seattle, WA 98195 USA.
EM skover@u.washington.edu
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NR 44
TC 0
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 385
EP 394
DI 10.1044/2014_AJSLP-13-0073
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300002
PM 24687049
ER
PT J
AU Murza, KA
Nye, C
Schwartz, JB
Ehren, BJ
Hahs-Vaughn, DL
AF Murza, Kimberly A.
Nye, Chad
Schwartz, Jamie B.
Ehren, Barbara J.
Hahs-Vaughn, Debbie L.
TI A Randomized Controlled Trial of an Inference Generation Strategy
Intervention for Adults With High-Functioning Autism Spectrum Disorder
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE autism; intervention; language; reading; pragmatics; adults
ID ASPERGER-SYNDROME; READING-COMPREHENSION; SOCIAL-PERCEPTION;
YOUNG-ADULTS; CHILDREN; STUDENTS; DISABILITIES; ADOLESCENTS; SKILLS;
MIND
AB Purpose: The present intervention study investigated the efficacy of the ACT & Check Strategy intervention to improve inference generation when reading, metacognitive ability, general reading comprehension, and social inference ability in adults with high-functioning autism spectrum disorder (HF-ASD).
Method: Twenty-five adults with HF-ASD were randomly assigned to either a treatment or a control group. Treatment sessions were conducted in 1-hr sessions, twice a week, for a total of 6 weeks. Treatment focused on explicit instruction of components of inference generation, categories of inferences, and increasingly independent strategy use.
Results: The treatment group demonstrated significantly superior performance on 1 of 2 measures of inference generation in reading and 1 measure of metacognitive ability compared with the control group. Significant differences between groups were not found on measures of reading comprehension or social inference ability.
Conclusion: These findings suggest that the ACT & Check Strategy was effective in improving participants' ability to generate inferences in reading and certain metacognitive abilities, but the skills do not appear to generalize to other social communication contexts, such as social inference generation. This research provides a measure of support for explicitly teaching inference generation to address a reading inference deficit in adults with HF-ASD.
C1 [Murza, Kimberly A.] Univ No Colorado, Greeley, CO 80639 USA.
[Nye, Chad; Schwartz, Jamie B.; Ehren, Barbara J.; Hahs-Vaughn, Debbie L.] Univ Cent Florida, Orlando, FL 32816 USA.
RP Murza, KA (reprint author), Univ No Colorado, Greeley, CO 80639 USA.
EM kimberly.murza@unco.edu
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NR 82
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 461
EP 473
DI 10.1044/2014_AJSLP-13-0012
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300008
PM 24687182
ER
PT J
AU Thiemann-Bourque, KS
Warren, SF
Brady, N
Gilkerson, J
Richards, JA
AF Thiemann-Bourque, Kathy S.
Warren, Steven F.
Brady, Nancy
Gilkerson, Jill
Richards, Jeffrey A.
TI Vocal Interaction Between Children With Down Syndrome and Their Parents
SO AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Down syndrome; speech development; parent-child communication;
vocalizations; automated vocal analysis
ID YOUNG-CHILDREN; INTELLECTUAL DISABILITIES; INFANT VOCALIZATIONS;
COMMUNICATION; INTERVENTION; AUTISM; WORDS; PAIRS
AB Purpose: The purpose of this study was to describe differences in parent input and child vocal behaviors of children with Down syndrome (DS) compared with typically developing (TD) children. The goals were to describe the language learning environments at distinctly different ages in early childhood.
Method: Nine children with DS and 9 age-matched TD children participated; 4 children in each group were ages 9-11 months, and 5 were between 25 and 54 months. Measures were derived from automated vocal analysis. A digital language processor measured the richness of the child's language environment, including number of adult words, conversational turns, and child vocalizations.
Results: Analyses indicated no significant differences in words spoken by parents of younger versus older children with DS and significantly more words spoken by parents of TD children than parents of children with DS. Differences between the DS and TD groups were observed in rates of all vocal behaviors, with no differences noted between the younger versus older children with DS, and the younger TD children did not vocalize significantly more than the younger DS children.
Conclusions: Parents of children with DS continue to provide consistent levels of input across the early language learning years; however, child vocal behaviors remain low after the age of 24 months, suggesting the need for additional and alternative intervention approaches.
C1 [Thiemann-Bourque, Kathy S.; Warren, Steven F.; Brady, Nancy] Univ Kansas, Lawrence, KS 66045 USA.
[Gilkerson, Jill; Richards, Jeffrey A.] LENA Res Fdn, Boulder, CO USA.
RP Thiemann-Bourque, KS (reprint author), Univ Kansas, Lawrence, KS 66045 USA.
EM thiemann@ku.edu
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NR 37
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1058-0360
EI 1558-9110
J9 AM J SPEECH-LANG PAT
JI Am. J. Speech-Lang. Pathol.
PD AUG
PY 2014
VL 23
IS 3
BP 474
EP 485
DI 10.1044/2014_AJSLP-12-0010
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AU5ZQ
UT WOS:000345682300009
PM 24686777
ER
PT J
AU Wink, LK
O'Melia, AM
Shaffer, RC
Pedapati, E
Friedmann, K
Schaefer, T
Erickson, CA
AF Wink, Logan K.
O'Melia, Anne M.
Shaffer, Rebecca C.
Pedapati, Ernest
Friedmann, Katherine
Schaefer, Tori
Erickson, Craig A.
TI Intranasal Ketamine Treatment in an Adult With Autism Spectrum Disorder
SO JOURNAL OF CLINICAL PSYCHIATRY
LA English
DT Article
C1 [Wink, Logan K.; Shaffer, Rebecca C.; Pedapati, Ernest; Friedmann, Katherine; Schaefer, Tori; Erickson, Craig A.] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[O'Melia, Anne M.] Univ Cincinnati, Cincinnati, OH USA.
RP Wink, LK (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave MLC 4002, Cincinnati, OH 45229 USA.
EM logan.wink@cchmc.org
FU Simons Foundation; John Merck Fund; US Department of Defense; Autism
Speaks; SynapDx; Cures Within Reach; Angelman Syndrome Foundation
FX Dr Wink has been a consultant for Otsuka and has received grant/research
support from Simons Foundation, John Merck Fund, US Department of
Defense, Autism Speaks, SynapDx, and Cures Within Reach. Dr Shaffer has
received grant/research support from Autism Speaks. Dr Erickson has been
a consultant for Alcobra, Roche Group, and Confluence Pharmaceuticals;
has received grant/research support from Simons Foundation, Angelman
Syndrome Foundation, John Merck Fund, US Department of Defense, and
Autism Speaks; and is a stock shareholder in Confluence Pharmaceuticals.
Drs O'Melia, Pedapati, and Schaefer and Ms Friedmann report no potential
conflict of interest.
CR Papolos DF, 2013, J AFFECT DISORDERS, V147, P431, DOI 10.1016/j.jad.2012.08.040
Tottenham N, 2002, 9 ANN M COGN NEUR SO
Zarate CA, 2006, ARCH GEN PSYCHIAT, V63, P856, DOI 10.1001/archpsyc.63.8.856
NR 3
TC 0
Z9 0
PU PHYSICIANS POSTGRADUATE PRESS
PI MEMPHIS
PA P O BOX 752870, MEMPHIS, TN 38175-2870 USA
SN 0160-6689
EI 1555-2101
J9 J CLIN PSYCHIAT
JI J. Clin. Psychiatry
PD AUG
PY 2014
VL 75
IS 8
BP 835
EP 836
DI 10.4088/JCP.13cr08917
PG 2
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AU3RC
UT WOS:000345530300010
PM 25191906
ER
PT J
AU Du Bois, JW
Hobson, RP
Hobson, JA
AF Du Bois, John W.
Hobson, R. Peter
Hobson, Jessica A.
TI Dialogic resonance and intersubjective engagement in autism
SO COGNITIVE LINGUISTICS
LA English
DT Article
DE autism; resonance; dialogic syntax; structural priming;
intersubjectivity; identification; stance; attitude; linkage; engagement
ID LANGUAGE PRODUCTION; JOINT ATTENTION; CHILDREN; COMMUNICATION;
IDENTIFICATION; CONVERSATION; IMPAIRMENTS; PSYCHOLOGY; IMITATION;
DISORDER
AB How can we investigate the relation between language and the human capacity for intersubjective engagement? Here we combine insights from linguistics and psychology to study the language of children with autism. We begin by reviewing why it might be worthwhile to study autism from the perspective of dialogic resonance, defined as the catalytic activation of affinities across utterances. Then we report on a controlled study of conversations involving individual children with autism and an interested adult interviewer. According to reliable ratings of the transcribed conversations, each considered as a whole, the speech of participants with autism was characterized by atypical forms of dialogic resonance. On the other hand, the children with autism were similar to control participants insofar as their conversations manifested "typically developed frame grabs" in which dialogic resonance was accompanied by a coherent expansion. These findings were compatible with those that emerged from utterance-by-utterance analyses of the same conversations reported elsewhere (Hobson et al. 2012). To complement the quantitative findings, we present illustrative excerpts of language use. We consider how dialogic resonance relates to structural priming, and consider implications for understanding the relations among intersubjectivity, language, and autism.
C1 [Du Bois, John W.] Univ Calif Santa Barbara, Dept Linguist, Santa Barbara, CA 93106 USA.
[Hobson, R. Peter] UCL, Tavistock Clin, London WC1E 6BT, England.
[Hobson, R. Peter] UCL, Inst Child Hlth, London WC1E 6BT, England.
[Hobson, Jessica A.] Sonoma State Univ & Univ Coll, London, England.
RP Du Bois, JW (reprint author), Univ Calif Santa Barbara, Dept Linguist, Santa Barbara, CA 93106 USA.
EM dubois@linguistics.ucsb.edu; r.hobson@ucl.ac.uk;
jessica.hobson@sonoma.edu
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NR 60
TC 0
Z9 0
PU DE GRUYTER MOUTON
PI BERLIN
PA GENTHINER STRASSE 13, 10785 BERLIN, GERMANY
SN 0936-5907
EI 1613-3641
J9 COGN LINGUIST
JI Cogn. Linguist
PD AUG
PY 2014
VL 25
IS 3
SI SI
BP 411
EP 441
DI 10.1515/cog-2014-0025
PG 31
WC Linguistics; Language & Linguistics
SC Linguistics
GA AT7EB
UT WOS:000345098600003
ER
PT J
AU Charles, R
Sakurai, T
Takahashi, N
Elder, GA
Sosa, MAG
Young, LJ
Buxbaum, JD
AF Charles, Rhonda
Sakurai, Takeshi
Takahashi, Nagahide
Elder, Gregory A.
Sosa, Miguel A. Gama
Young, Larry J.
Buxbaum, Joseph D.
TI Introduction of the human AVPR1A gene substantially alters brain
receptor expression patterns and enhances aspects of social behavior in
transgenic mice
SO DISEASE MODELS & MECHANISMS
LA English
DT Article
DE AVPR1A; Humanized mouse; Social behavior; Species-specific;
Microsatellite; Autism
ID ANXIETY-RELATED BEHAVIOR; VASOPRESSIN RECEPTOR; KNOCKOUT MICE; PREPULSE
INHIBITION; PROMOTER REGION; PSYCHIATRIC-DISORDERS; MONOGAMOUS VOLE;
BINDING-SITES; MESSENGER-RNA; V-1A RECEPTOR
AB Central arginine vasopressin receptor 1A(AVPR1A) modulates a wide range of behaviors, including stress management and territorial aggression, as well as social bonding and recognition. Inter- and intra-species variations in the expression pattern of AVPR1A in the brain and downstream differential behavioral phenotypes have been attributed to differences in the non-coding regions of the AVPR1A gene, including polymorphic elements within upstream regulatory areas. Gene association studies have suggested a link between AVPR1A polymorphisms and autism, and AVPR1A has emerged as a potential pharmacological target for treatment of social cognitive impairments and mood and anxiety disorders. To further investigate the genetic mechanism giving rise to species differences in AVPR1A expression patterns and associated social behaviors, and to create a preclinical mouse model useful for screening drugs targeting AVPR1A, we engineered and extensively characterized bacterial artificial chromosome(BAC) transgenic mice harboring the entire human AVPR1A locus with the surrounding regulatory elements. Compared with wild-type animals, the humanized mice displayed a more widely distributed ligand-AVPR1A binding pattern, which overlapped with that of primates. Furthermore, humanized AVPR1A mice displayed increased reciprocal social interactions compared with wild-type animals, but no differences in social approach and preference for social novelty were observed. Aspects of learning and memory, specifically novel object recognition and spatial relocation recognition, were unaffected. The biological alterations in humanized AVPR1A mice resulted in the rescue of the prepulse inhibition impairments that were observed in knockout mice, indicating conserved functionality. Although further behavioral paradigms and additional cohorts need to be examined in humanized AVPR1A mice, the results demonstrate that species-specific variations in the genomic content of regulatory regions surrounding the AVPR1A locus are responsible for differential receptor protein expression patterns across species and that they are likely to contribute to species-specific behavioral variation. The humanized AVPR1A mouse is a potential preclinical model for further understanding the regulation of receptor gene expression and the impact of variation in receptor expression on behaviors, and should be useful for screening drugs targeting human AVPR1A, taking advantage of the expression of human AVPR1A in human-relevant brain regions.
C1 [Charles, Rhonda; Sakurai, Takeshi; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Charles, Rhonda; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Sakurai, Takeshi; Takahashi, Nagahide; Elder, Gregory A.; Sosa, Miguel A. Gama; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Elder, Gregory A.] Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA.
[Elder, Gregory A.] James J Peters VA Med Ctr, Neurol Serv, Bronx, NY 10468 USA.
[Sosa, Miguel A. Gama] James J Peters VA Med Ctr, Res & Dev Serv, Bronx, NY 10468 USA.
[Young, Larry J.] Emory Univ, Yerkes Natl Primate Res Ctr, Dept Psychiat & Behav Sci, Ctr Translat Social Neurosci, Atlanta, GA 30329 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
RP Buxbaum, JD (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
EM joseph.buxbaum@mssm.edu
FU Seaver Foundation; Autism Science Foundation; National Institutes of
Health [MH056897, MH064692, P51OD11132]
FX This work was supported by the Seaver Foundation and a predoctoral
fellowship from the Autism Science Foundation to R. C. Additional
support was provided by National Institutes of Health grants [MH056897
and MH064692 to L.J.Y. and P51OD11132 to Yerkes National Primate
Research Center].
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NR 55
TC 0
Z9 0
PU COMPANY OF BIOLOGISTS LTD
PI CAMBRIDGE
PA BIDDER BUILDING CAMBRIDGE COMMERCIAL PARK COWLEY RD, CAMBRIDGE CB4 4DL,
CAMBS, ENGLAND
SN 1754-8403
EI 1754-8411
J9 DIS MODEL MECH
JI Dis. Model. Mech.
PD AUG
PY 2014
VL 7
IS 8
BP 1013
EP 1022
DI 10.1242/dmm.017053
PG 10
WC Cell Biology; Pathology
SC Cell Biology; Pathology
GA AT5TF
UT WOS:000345004200009
PM 24924430
ER
PT J
AU Duda, M
Kosmicki, JA
Wall, DP
AF Duda, M.
Kosmicki, J. A.
Wall, D. P.
TI Testing the accuracy of an observation-based classifier for rapid
detection of autism risk
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DIAGNOSTIC-OBSERVATION-SCHEDULE; SPECTRUM DISORDERS; REVISED ALGORITHMS;
ADOS SCORES; SEVERITY; CHILDREN
AB Current approaches for diagnosing autism have high diagnostic validity but are time consuming and can contribute to delays in arriving at an official diagnosis. In a pilot study, we used machine learning to derive a classifier that represented a 72% reduction in length from the gold-standard Autism Diagnostic Observation Schedule-Generic (ADOS-G), while retaining >97% statistical accuracy. The pilot study focused on a relatively small sample of children with and without autism. The present study sought to further test the accuracy of the classifier (termed the observation-based classifier (OBC)) on an independent sample of 2616 children scored using ADOS from five data repositories and including both spectrum (n = 2333) and non-spectrum (n = 283) individuals. We tested OBC outcomes against the outcomes provided by the original and current ADOS algorithms, the best estimate clinical diagnosis, and the comparison score severity metric associated with ADOS-2. The OBC was significantly correlated with the ADOS-G (r = -0.814) and ADOS-2 (r = -0.779) and exhibited >97% sensitivity and >77% specificity in comparison to both ADOS algorithm scores. The correspondence to the best estimate clinical diagnosis was also high (accuracy = 96.8%), with sensitivity of 97.1% and specificity of 83.3%. The correlation between the OBC score and the comparison score was significant (r = -0.628), suggesting that the OBC provides both a classification as well as a measure of severity of the phenotype. These results further demonstrate the accuracy of the OBC and suggest that reductions in the process of detecting and monitoring autism are possible.
C1 [Duda, M.; Wall, D. P.] Stanford Univ, Div Syst Med, Dept Pediat, Stanford, CA 94305 USA.
[Kosmicki, J. A.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Kosmicki, J. A.] Harvard Univ, Sch Med, Boston, MA USA.
[Kosmicki, J. A.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
RP Wall, DP (reprint author), Stanford Univ, Div Syst Med, Dept Pediat, 1265 Welch Rd, Stanford, CA 94305 USA.
EM dpwall@stanford.edu
FU Simons Foundation; Nancy Lurie Marks Family Foundation; Harvard Catalyst
Program; National Institutes of Health [1R01MH090611-01A1]
FX Work was supported in part by funds to DPW from the Simons Foundation,
Nancy Lurie Marks Family Foundation, the Harvard Catalyst Program, and
grant 1R01MH090611-01A1 from the National Institutes of Health. We thank
the reviewers whose comments substantially improved the quality of the
manuscript. We also thank the families who contributed the data that
made this study possible.
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NR 21
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD AUG
PY 2014
VL 4
AR e424
DI 10.1038/tp.2014.65
PG 6
WC Psychiatry
SC Psychiatry
GA AT3HR
UT WOS:000344826900005
PM 25116834
ER
PT J
AU Squillace, M
Dodero, L
Federici, M
Migliarini, S
Errico, F
Napolitano, F
Krashia, P
Di Maio, A
Galbusera, A
Bifone, A
Scattoni, ML
Pasqualetti, M
Mercuri, NB
Usiello, A
Gozzi, A
AF Squillace, M.
Dodero, L.
Federici, M.
Migliarini, S.
Errico, F.
Napolitano, F.
Krashia, P.
Di Maio, A.
Galbusera, A.
Bifone, A.
Scattoni, M. L.
Pasqualetti, M.
Mercuri, N. B.
Usiello, A.
Gozzi, A.
TI Dysfunctional dopaminergic neurotransmission in asocial BTBR mice
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; T PLUS TF/J; SOCIAL ANXIETY DISORDER; GLUR1
AMPA RECEPTOR; MOUSE MODEL; NUCLEUS-ACCUMBENS; D2 RECEPTORS; T+TF/J
MICE; UNUSUAL REPERTOIRE; IN-VIVO
AB Autism spectrum disorders (ASD) are neurodevelopmental conditions characterized by pronounced social and communication deficits and stereotyped behaviours. Recent psychosocial and neuroimaging studies have highlighted reward-processing deficits and reduced dopamine (DA) mesolimbic circuit reactivity in ASD patients. However, the neurobiological and molecular determinants of these deficits remain undetermined. Mouse models recapitulating ASD-like phenotypes could help generate hypotheses about the origin and neurophysiological underpinnings of clinically relevant traits. Here we used functional magnetic resonance imaging (fMRI), behavioural and molecular readouts to probe dopamine neurotransmission responsivity in BTBR T+ Itpr3(tf)/J mice (BTBR), an inbred mouse line widely used to model ASD-like symptoms owing to its robust social and communication deficits, and high level of repetitive stereotyped behaviours. C57BL/6J (B6) mice were used as normosocial reference comparators. DA reuptake inhibition with GBR 12909 produced significant striatal DA release in both strains, but failed to elicit fMRI activation in widespread forebrain areas of BTBR mice, including mesolimbic reward and striatal terminals. In addition, BTBR mice exhibited no appreciable motor responses to GBR 12909. DA D1 receptor-dependent behavioural and signalling responses were found to be unaltered in BTBR mice, whereas dramatic reductions in pre-and postsynaptic DA D2 and adenosine A2A receptor function was observed in these animals. Overall these results document profoundly compromised DA D2-mediated neurotransmission in BTBR mice, a finding that is likely to have a role in the distinctive social and behavioural deficits exhibited by these mice. Our results call for a deeper investigation of the role of dopaminergic dysfunction in mouse lines exhibiting ASD-like phenotypes, and possibly in ASD patient populations.
C1 [Squillace, M.; Errico, F.; Napolitano, F.; Di Maio, A.; Usiello, A.] Ceinge Biotecnol Avanzate, Naples, Italy.
[Dodero, L.; Galbusera, A.; Bifone, A.; Gozzi, A.] Ist Italiano Tecnol, Ctr Neurosci & Cognit Syst, Rovereto, Italy.
[Dodero, L.] Ist Italiano Tecnol, Genoa, Italy.
[Federici, M.; Krashia, P.; Mercuri, N. B.] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy.
[Federici, M.; Mercuri, N. B.] IRCCS Fdn Santa Lucia, Lab Neurol Sperimentale, Rome, Italy.
[Migliarini, S.; Pasqualetti, M.] Univ Pisa, Dept Biol, Unit Cell & Dev Biol, Pisa, Italy.
[Errico, F.; Napolitano, F.] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy.
[Scattoni, M. L.] Ist Super Sanita, Neurotoxicol & Neuroendocrinol Sect, Dept Cell Biol & Neurosci, I-00161 Rome, Italy.
[Usiello, A.] Univ Naples 2, Dept Environm Biol & Pharmaceut Sci & Technol, Caserta, Italy.
RP Usiello, A (reprint author), Ceinge Biotecnol Avanzate, Naples, Italy.
EM Alessandro.usiello@ceinge.it; alessandro.gozzi@iit.it
FU Istituto Italiano di Tecnologia; NARSAD, Italian Ministry of Health
'Young investigators' [GR3-2008]; Simons Foundation [SFARI 314688]
FX The study was funded by the Istituto Italiano di Tecnologia, and
supported by a NARSAD Independent Investigator 2013 award (AU), Italian
Ministry of Health 'Young investigators' GR3-2008 (MLS) and by a grant
from the Simons Foundation (SFARI 314688, AG).
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NR 97
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD AUG
PY 2014
VL 4
AR e427
DI 10.1038/tp.2014.69
PG 11
WC Psychiatry
SC Psychiatry
GA AT3HR
UT WOS:000344826900008
PM 25136890
ER
PT J
AU Grainger, C
Williams, DM
Lind, SE
AF Grainger, Catherine
Williams, David M.
Lind, Sophie E.
TI Metacognition, Metamemory, and Mindreading in High-Functioning Adults
With Autism Spectrum Disorder
SO JOURNAL OF ABNORMAL PSYCHOLOGY
LA English
DT Article
DE autism; metacognition; metamemory; feeling-of-knowing; theory of mind;
mindreading
ID ASPERGER SYNDROME; AMNESIC PATIENTS; MEMORY; SELF; CHILDREN; MIND;
INDIVIDUALS; EXPERIENCE; JUDGMENTS; KNOWLEDGE
AB Metacognition refers to cognition about cognition and encompasses both knowledge of cognitive processes and the ability to monitor and control one's own cognitions. The current study aimed to establish whether metacognition is impaired in autism spectrum disorder (ASD). According to some theories, the ability to represent one's own mental states (an aspect of metacognition) relies on the same mechanism as the ability to represent others' mental states ("mindreading"). Given numerous studies have shown mindreading is impaired in ASD, there is good reason to predict concurrent impairments in metacognition. Metacognition is most commonly explored in the context of memory, often by assessing people's ability to monitor their memory processes. The current study addressed the question of whether people with ASD have difficulty monitoring the contents of their memory (alongside impaired mindreading). Eighteen intellectually high-functioning adults with ASD and 18 IQ-and age-matched neurotypical adults participated. Metamemory monitoring ability and mindreading ability were assessed by using a feeling-of-knowing task and the "animations" task, respectively. Participants also completed a self-report measure of metacognitive ability. In addition to showing impaired mindreading, participants with ASD made significantly less accurate feeling-of-knowing judgments than neurotypical adults, suggesting that metamemory monitoring (an aspect of metacognition) was impaired. Conversely, participants with ASD self-reported superior metacognitive abilities compared with those reported by neurotypical participants. This study provides evidence that individuals with ASD have metamemory monitoring impairments. The theoretical and practical implications of these findings for our current understanding of metacognition in ASD and typical development are discussed.
C1 [Grainger, Catherine; Williams, David M.] Univ Kent, Sch Psychol, Keynes Coll, Canterbury CT2 7NP, Kent, England.
[Lind, Sophie E.] City Univ London, Autism Res Grp, Dept Psychol, London, England.
RP Grainger, C (reprint author), Univ Kent, Sch Psychol, Keynes Coll, Canterbury CT2 7NP, Kent, England.
EM cg341@kent.ac.uk
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NR 59
TC 1
Z9 1
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0021-843X
EI 1939-1846
J9 J ABNORM PSYCHOL
JI J. Abnorm. Psychol.
PD AUG
PY 2014
VL 123
IS 3
BP 650
EP 659
DI 10.1037/a0036531
PG 10
WC Psychology, Clinical; Psychology, Multidisciplinary
SC Psychology
GA AS1AH
UT WOS:000344008000016
PM 24955572
ER
PT J
AU Meaux, E
Roux, S
Batty, M
AF Meaux, Emilie
Roux, Sylvie
Batty, Magali
TI Early visual ERPs are influenced by individual emotional skills
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE facial expression of emotion; visual ERPs; emotional skills; healthy
adults
ID EVENT-RELATED POTENTIALS; AUTISM SPECTRUM DISORDER; FACIAL EXPRESSIONS;
BIPOLAR DISORDER; SEX-DIFFERENCES; FEARFUL FACES; CATEGORICAL
PERCEPTION; BRAIN POTENTIALS; TIME-COURSE; SOCIAL-INTERACTION
AB Processing information from faces is crucial to understanding others and to adapting to social life. Many studies have investigated responses to facial emotions to provide a better understanding of the processes and the neural networks involved. Moreover, several studies have revealed abnormalities of emotional face processing and their neural correlates in affective disorders. The aim of this study was to investigate whether early visual event-related potentials (ERPs) are affected by the emotional skills of healthy adults. Unfamiliar faces expressing the six basic emotions were presented to 28 young adults while recording visual ERPs. No specific task was required during the recording. Participants also completed the Social Skills Inventory (SSI) which measures social and emotional skills. The results confirmed that early visual ERPs (P1, N170) are affected by the emotions expressed by a face and also demonstrated that N170 and P2 are correlated to the emotional skills of healthy subjects. While N170 is sensitive to the subject's emotional sensitivity and expressivity, P2 is modulated by the ability of the subjects to control their emotions. We therefore suggest that N170 and P2 could be used as individual markers to assess strengths and weaknesses in emotional areas and could provide information for further investigations of affective disorders.
C1 [Meaux, Emilie; Roux, Sylvie; Batty, Magali] Univ Tours, CHRU Tours, Ctr Univ Pedopsychiat, UMR Inserm U930, F-37044 Tours 9, France.
RP Meaux, E (reprint author), Univ Med Ctr, Lab Behav Neurol & Imaging Cognit LabNIC, 1 Rue Michel Servet, CH-1211 Geneva 4, Switzerland.
EM Emilie.Meaux@unige.ch
FU Foundation ORANGE
FX The authors thank all the subjects for their time and effort spent
participating in this study. Special thanks are due to Sylvie Roux for
her valuable help with the experimental design and analyses. This work
was supported by grants from Foundation ORANGE.
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NR 126
TC 2
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1089
EP 1098
DI 10.1093/scan/nst084
PG 10
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900007
PM 23720573
ER
PT J
AU Schulte-Ruther, M
Greimel, E
Piefke, M
Kamp-Becker, I
Remschmidt, H
Fink, GR
Herpertz-Dahlmann, B
Konrad, K
AF Schulte-Ruether, Martin
Greimel, Ellen
Piefke, Martina
Kamp-Becker, Inge
Remschmidt, Helmut
Fink, Gereon R.
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Age-dependent changes in the neural substrates of empathy in autism
spectrum disorder
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE social cognition; theory of mind; medial prefrontal cortex; facial
emotion; developmental trajectories
ID NETWORKS SUPPORTING EMPATHY; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
RESPONSE-INHIBITION; COGNITIVE CONTROL; MIRROR NEURON; MIND; BRAIN;
CHILDREN; SELF
AB In typical development, empathic abilities continue to refine during adolescence and early adulthood. Children and adolescents with autism spectrum disorders (ASD) show deficits in empathy, whereas adults with ASD may have developed compensatory strategies. We aimed at comparing developmental trajectories in the neural mechanisms underlying empathy in individuals with ASD and typically developing control (TDC) subjects. Using an explicit empathizing paradigm and functional magnetic resonance imaging, 27 participants with ASD and 27 TDC aged 12-31 years were investigated. Participants were asked to empathize with emotional faces and to either infer the face's emotional state (other-task) or to judge their own emotional response (self-task). Differential age-dependent changes were evident during the self-task in the right dorsolateral prefrontal cortex, right medial prefrontal cortex, right inferior parietal cortex, right anterior insula and occipital cortex. Age-dependent decreases in neural activation in TDC were paralleled by either increasing or unchanged age-dependent activation in ASD. These data suggest ASD-associated deviations in the developmental trajectories of self-related processing during empathizing. In TDC, age-dependent modulations of brain areas may reflect the 'fine-tuning' of cortical networks by reduction of task-unspecific brain activity. Increased age-related activation in individuals with ASD may indicate the development of compensatory mechanisms.
C1 [Schulte-Ruether, Martin; Greimel, Ellen; Konrad, Kerstin] Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat Psychosomat & Ps, Child Neuropsychol Sect, D-52074 Aachen, Germany.
[Schulte-Ruether, Martin; Greimel, Ellen; Piefke, Martina; Fink, Gereon R.; Konrad, Kerstin] Forschungszentrum Julich, Inst Neurosci & Med INM 3, D-52425 Julich, Germany.
[Schulte-Ruether, Martin; Herpertz-Dahlmann, Beate; Konrad, Kerstin] Univ Hosp Munich, JARA Translat Brain Med, Munich, Germany.
[Greimel, Ellen] Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany.
[Piefke, Martina] Univ Witten Herdecke, Dept Psychol & Psychotherapy, Witten, Germany.
[Kamp-Becker, Inge; Remschmidt, Helmut] Univ Marburg, Dept Child & Adolescent Psychiat Psychosomat & Ps, Marburg, Germany.
[Fink, Gereon R.] Univ Hosp Cologne, Dept Neurol, Cologne, Germany.
[Herpertz-Dahlmann, Beate] Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat Psychosomat & Ps, Aachen, Germany.
RP Schulte-Ruther, M (reprint author), Univ Hosp RWTH Aachen, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM mschulte@ukaachen.de
RI Konrad, Kerstin/H-7747-2013; Fink, Gereon/E-1616-2012
OI Konrad, Kerstin/0000-0001-9039-2615; Fink, Gereon/0000-0002-8230-1856
FU Bundeministerium fur Bildung und Forschung [01GW0751];
Hans-Lungwitz-Foundation
FX The authors are grateful to all volunteers who took part in this study.
They thank their colleagues in the Brain Imaging Physics (INM-4) and
Cognitive Neuroscience groups (INM-3) at the Research Center Julich
(Institute of Neuroscience and Medicine) and the Child Neuropsychology
section at the University Hospital RWTH Aachen for their support and
helpful advice. K.K. and B.H.-D. were supported by the Bundeministerium
fur Bildung und Forschung grant 01GW0751. M. P. was supported by a grant
from the Hans-Lungwitz-Foundation.
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NR 77
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1118
EP 1126
DI 10.1093/scan/nst088
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900010
PM 23784073
ER
PT J
AU Fan, YT
Chen, CY
Chen, SC
Decety, J
Cheng, YW
AF Fan, Yang-Teng
Chen, Chenyi
Chen, Shih-Chuan
Decety, Jean
Cheng, Yawei
TI Empathic arousal and social understanding in individuals with autism:
evidence from fMRI and ERP measurements
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder (ASD); empathy; pressure pain thresholds (PPT);
functional MRI (fMRI); electroencephalography/event-related potentials
(EEG/ERP)
ID EVENT-RELATED POTENTIALS; MIRROR NEURON SYSTEM; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; FUNCTIONING AUTISM; EMOTIONAL EMPATHY; CINGULATE
CORTEX; INSULAR CORTEX; PAIN; BRAIN
AB Lack of empathy is a hallmark of social impairments in individuals with autism spectrum disorder (ASD). However, the concept empathy encompasses several socio-emotional and behavioral components underpinned by interacting brain circuits. This study examined empathic arousal and social understanding in individuals with ASD and matched controls by combining pressure pain thresholds (PPT) with functional magnetic resonance imaging (study 1) and electroencephalography/event-related potentials and eye-tracking responses (study 2) to empathy-eliciting stimuli depicting physical bodily injuries. Results indicate that participants with ASD had lower PPT than controls. When viewing body parts being accidentally injured, increased hemodynamic responses in the somatosensory cortex (SI/SII) but decreased responses in the anterior mid-cingulate and anterior insula as well as heightened N2 but preserved late-positive potentials (LPP) were detected in ASD participants. When viewing a person intentionally hurting another, decreased hemodynamic responses in the medial prefrontal cortex and reduced LPP were observed in the ASD group. PPT was a mediator for the SI/SII response in predicting subjective unpleasantness ratings to others' pain. Both ASD and control groups had comparable mu suppression, indicative of typical sensorimotor resonance. The findings demonstrate that, in addition to reduced pain thresholds, individuals with ASD exhibit heightened empathic arousal but impaired social understanding when perceiving others' distress.
C1 [Fan, Yang-Teng; Chen, Chenyi; Chen, Shih-Chuan; Cheng, Yawei] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Fan, Yang-Teng; Chen, Chenyi; Chen, Shih-Chuan; Cheng, Yawei] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Decety, Jean] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA.
[Decety, Jean] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
[Cheng, Yawei] Natl Yang Ming Univ Hosp, Dept Rehabil, Yilan, Taiwan.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, 155,Sec 2,St Linong, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU National Science Council [NSC 99-2314-B-010-037-MY3, NSC
100-2628-H-010-001-MY3]; National Yang-Ming University Hospital [RD
2011-005]; Health Department of Taipei City Government [10201-62-064];
Ministry of Education (Aim for the Top University Plan); NSF
[BCS-0718480]
FX The authors thank Dr. Yu-Yu Wu for helpful support on clinical
assessments. The study was funded by National Science Council (NSC
99-2314-B-010-037-MY3; NSC 100-2628-H-010-001-MY3), National Yang-Ming
University Hospital (RD 2011-005), the Health Department of Taipei City
Government (10201-62-064) and a grant from the Ministry of Education
(Aim for the Top University Plan). Dr. Jean Decety was supported by an
NSF grant (BCS-0718480).
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NR 84
TC 5
Z9 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1203
EP 1213
DI 10.1093/scan/nst101
PG 11
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900020
PM 23929944
ER
PT J
AU Kroger, A
Bletsch, A
Krick, C
Siniatchkin, M
Jarczok, TA
Freitag, CM
Bender, S
AF Kroeger, Anne
Bletsch, Anke
Krick, Christoph
Siniatchkin, Michael
Jarczok, Tomasz A.
Freitag, Christine M.
Bender, Stephan
TI Visual event-related potentials to biological motion stimuli in autism
spectrum disorders
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE event-related-potentials; motion perception; P100; N200;
hemisphere-asymmetry
ID SUPERIOR TEMPORAL SULCUS; EVOKED-POTENTIALS; DEVELOPMENTAL-CHANGES;
COHERENT MOTION; YOUNG-CHILDREN; ATYPICAL FACE; ERP EVIDENCE;
TIME-COURSE; PERCEPTION; LANGUAGE
AB Atypical visual processing of biological motion contributes to social impairments in autism spectrum disorders (ASD). However, the exact temporal sequence of deficits of cortical biological motion processing in ASD has not been studied to date. We used 64-channel electroencephalography to study event-related potentials associated with human motion perception in 17 children and adolescents with ASD and 21 typical controls. A spatio-temporal source analysis was performed to assess the brain structures involved in these processes. We expected altered activity already during early stimulus processing and reduced activity during subsequent biological motion specific processes in ASD. In response to both, random and biological motion, the P100 amplitude was decreased suggesting unspecific deficits in visual processing, and the occipito-temporal N200 showed atypical lateralization in ASD suggesting altered hemispheric specialization. A slow positive deflection after 400 ms, reflecting top-down processes, and human motion-specific dipole activation differed slightly between groups, with reduced and more diffuse activation in the ASD-group. The latter could be an indicator of a disrupted neuronal network for biological motion processing in ADS. Furthermore, early visual processing (P100) seems to be correlated to biological motion-specific activation. This emphasizes the relevance of early sensory processing for higher order processing deficits in ASD.
C1 [Kroeger, Anne; Bletsch, Anke; Siniatchkin, Michael; Jarczok, Tomasz A.; Freitag, Christine M.; Bender, Stephan] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
[Krick, Christoph] Saarland Univ Hosp, Dept Neuroradiol, D-66424 Homburg, Germany.
[Bender, Stephan] Tech Univ Dresden, Dept Child & Adolescent Psychiat & Psychotherapy, D-01307 Dresden, Germany.
RP Kroger, A (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Anne.Kroeger@kgu.de
FU foundation of Marie Christine Held and Erika Hecker; German Research
foundation 'Deutsche Forschungsgemeinschaft' [FR2069/2-1]; LOEWE-Program
'Neuronal Coordination Research Focus Frankfurt' (NeFF)
FX First, we thank all families, who supported our work by participating in
our study. We also thank Jennifer Bohm and Katharina Hof for assistance
with the data collection, Benjamin Teufert for data calculations and our
clinical colleagues for helping us with recruiting participants. This
work was supported by the foundation of Marie Christine Held and Erika
Hecker to A.K., the German Research foundation 'Deutsche
Forschungsgemeinschaft' to C.M.F. (FR2069/2-1), and by the LOEWE-Program
'Neuronal Coordination Research Focus Frankfurt' (NeFF) to C.M.F. and
S.B.
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 79
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD AUG
PY 2014
VL 9
IS 8
BP 1214
EP 1222
DI 10.1093/scan/nst103
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IA
UT WOS:000342984900021
PM 23887808
ER
PT J
AU Hebron, J
Humphrey, N
AF Hebron, Judith
Humphrey, Neil
TI Exposure to bullying among students with autism spectrum conditions: A
multi-informant analysis of risk and protective factors
SO AUTISM
LA English
DT Article
DE bullying; protection; risk; school; victimisation
ID HIGH-FUNCTIONING AUTISM; SCHOOL-AGED CHILDREN; PARENTAL INVOLVEMENT;
ACADEMIC-ACHIEVEMENT; PEER RELATIONSHIPS; ASPERGER-SYNDROME; ADOLESCENT
BOYS; VICTIMIZATION; DISORDERS; PREVALENCE
AB Research has consistently shown that children and young people with autism spectrum conditions are more likely to be bullied than those with other or no special educational needs. The aim of this study was to examine risk and protective factors that could help to explain variation in exposure to bullying within this group. A sample of 722 teachers and 119 parents reported on their child's experience of being bullied. This response variable was regressed onto a range of explanatory variables representing individual and contextual factors. The teacher-and parent-rated regression models were statistically significant, explaining large proportions of variance in exposure to bullying. Behaviour difficulties and increased age were associated with bullying in both models. Positive relationships and attending a special school were associated with a decrease in bullying in the teacher model, with use of public/school transport predicting an increase. In the parent model, special educational needs provision at School Action Plus (as opposed to having a Statement of Special Educational Needs) was a significant risk factor, and higher levels of parental engagement and confidence were associated with reductions in bullying. These findings are discussed in relation to the autism spectrum conditions literature, and opportunities for intervention are considered.
C1 [Hebron, Judith; Humphrey, Neil] Univ Manchester, Manchester M13 9PL, Lancs, England.
RP Hebron, J (reprint author), Univ Manchester, Sch Educ, Oxford Rd, Manchester M13 9PL, Lancs, England.
EM judith.hebron@manchester.ac.uk
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NR 87
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 618
EP 630
DI 10.1177/1362361313495965
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900001
PM 23886576
ER
PT J
AU Schubart, JR
Camacho, F
Leslie, D
AF Schubart, Jane R.
Camacho, Fabian
Leslie, Douglas
TI Psychotropic medication trends among children and adolescents with
autism spectrum disorder in the Medicaid program
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; children and adolescents; Medicaid;
psychotropic medications
ID PREVALENCE; PATTERNS; MANAGEMENT; DRUGS
AB This study characterized psychotropic medication use among Medicaid-enrolled children and adolescents with autism spectrum disorders by examining trends over time, including length of treatment and polypharmacy using 4 years of administrative claims data from 41 state Medicaid programs (2000-2003). The data set included nearly 3 million children and adolescents who were 17 years or younger. Approximately, 65% of children with autism spectrum disorder received a psychotropic medication. The results indicate an increasing overall trend in the use of psychotropic drugs among children and adolescents with autism spectrum disorders. Among the different classes of psychotropic drugs, antipsychotics were the most common. Increasing trends in polypharmacy were observed both within and between medication classes.
C1 [Schubart, Jane R.; Camacho, Fabian; Leslie, Douglas] Penn State Univ, Hershey, PA 17033 USA.
RP Schubart, JR (reprint author), Penn State Univ, Coll Med, Dept Surg Med & Publ Hlth Sci, 500 Univ Dr, Hershey, PA 17033 USA.
EM jschubart@hmc.psu.edu
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NR 22
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 631
EP 637
DI 10.1177/1362361313497537
PG 7
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900002
PM 24165274
ER
PT J
AU Panerai, S
Tasca, D
Lanuzza, B
Trubia, G
Ferri, R
Musso, S
Alagona, G
Di Guardo, G
Barone, C
Gaglione, MP
Elia, M
AF Panerai, Simonetta
Tasca, Domenica
Lanuzza, Bartolo
Trubia, Grazia
Ferri, Raffaele
Musso, Sabrina
Alagona, Giovanna
Di Guardo, Giuseppe
Barone, Concetta
Gaglione, Maria P.
Elia, Maurizio
TI Effects of repetitive transcranial magnetic stimulation in performing
eye-hand integration tasks: Four preliminary studies with children
showing low-functioning autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorders; premotor cortex; rehabilitation; transcranial
magnetic stimulation
ID SPECTRUM DISORDERS; TOOL USE; MOTOR; ATTENTION; CORTEX; BRAIN;
INTERFERENCE; PREVALENCE; DEFICITS
AB This report, based on four studies with children with low-functioning autism, aimed at evaluating the effects of repetitive transcranial magnetic stimulation delivered on the left and right premotor cortices on eye-hand integration tasks; defining the long-lasting effects of high-frequency repetitive transcranial magnetic stimulation; and investigating the real efficacy of high-frequency repetitive transcranial magnetic stimulation by comparing three kinds of treatments (high-frequency repetitive transcranial magnetic stimulation, a traditional eye-hand integration training, and both treatments combined). Results showed a significant increase in eye-hand performances only when high-frequency repetitive transcranial magnetic stimulation was delivered on the left premotor cortex; a persistent improvement up to 1 h after the end of the stimulation; better outcomes in the treatment combining high-frequency repetitive transcranial magnetic stimulation and eye-hand integration training. Based on these preliminary findings, further evaluations on the usefulness of high-frequency repetitive transcranial magnetic stimulation in rehabilitation of children with autism are strongly recommended.
C1 [Panerai, Simonetta; Tasca, Domenica; Lanuzza, Bartolo; Trubia, Grazia; Ferri, Raffaele; Musso, Sabrina; Di Guardo, Giuseppe; Barone, Concetta; Gaglione, Maria P.; Elia, Maurizio] IRCCS Assoc Oasi Maria SS, Troina, EN, Italy.
[Alagona, Giovanna] Azienda Osped Emergenza Cannizzaro, Catania, Italy.
RP Panerai, S (reprint author), Oasi Inst Res Mental Retardat & Brain Aging, Via Conte Ruggero 73, I-94018 Troina, EN, Italy.
EM spanerai@oasi.en.it
CR American Psychiatric Association (APA), 1994, DIAGN STAT MAN MENT, V4th
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NR 37
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 638
EP 650
DI 10.1177/1362361313495717
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900003
PM 24113340
ER
PT J
AU Cutress, AL
Muncer, SJ
AF Cutress, Anna L.
Muncer, Steven J.
TI Parents' views of the National Autistic Society's EarlyBird Plus
Programme
SO AUTISM
LA English
DT Article
DE autism; EarlyBird Plus; parent training programme; post-diagnostic
support; psychoeducation
ID PRESCHOOL-CHILDREN; SPECTRUM DISORDER; DOWN-SYNDROME; INTERVENTION;
DIAGNOSIS; MOTHERS
AB Parent training interventions are recommended for parents soon after their child's autism spectrum condition diagnosis with the aim of improving parents' psychological well-being and coping, as well as the child's behaviour. This report explores parents' views of the EarlyBird Plus Programme through data collected routinely in the post-programme questionnaire. Participants' reported increased understanding of autism and improvements in their communication with their child and their ability to manage their child's behaviour. Parents appeared to value the opportunity to meet with other parents, and the programme seemed acceptable to the majority of parents who attended.
C1 [Cutress, Anna L.; Muncer, Steven J.] Univ Teesside, Middlesbrough TS1 3BA, Cleveland, England.
RP Cutress, AL (reprint author), Univ Teesside, Sch Hlth & Social Care, Clin Psychol Programme, Middlesbrough TS1 3BA, Cleveland, England.
EM k0106145@tees.ac.uk
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National Autistic Society, 2010, EARLYBIRD PLUS PROGR
National Autistic Society, 2011, EARLYBIRD PLUS PROGR
National Initiative for Autism: Screening and Assessment (NIASA), 2003, NAT AUT PLAN CHILDR
National Institute for Health and Clinical Excellence (NICE), 2006, COND DIS CHILDR PAR
Pillay Mini, 2011, Clin Child Psychol Psychiatry, V16, P5, DOI 10.1177/1359104509340945
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NR 24
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 651
EP 657
DI 10.1177/1362361313495718
PG 7
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900004
PM 24104516
ER
PT J
AU Warreyn, P
Roeyers, H
AF Warreyn, Petra
Roeyers, Herbert
TI See what I see, do as I do: Promoting joint attention and imitation in
preschoolers with autism spectrum disorder
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; imitation; intervention; joint attention;
preschoolers; rehabilitation
ID OF-THE-LITERATURE; YOUNG-CHILDREN; PRETEND PLAY;
NONVERBAL-COMMUNICATION; RECIPROCAL IMITATION; EARLY INTERVENTION;
SOCIAL COMPETENCE; VISUAL-ATTENTION; DOWN-SYNDROME; HUMAN INFANTS
AB Since imitation and joint attention are both important abilities for young children and since children with autism spectrum disorder show a range of problems in these domains, imitation and joint attention are important targets for intervention. In this study, we examined the possibility of promoting imitation and joint attention by means of a training programme specifically designed for low-intensity, non-residential treatment. Two matched groups of 18 children each participated in the study. The experimental group, receiving the training programme, improved significantly more on joint attention than the group receiving only treatment as usual. Only the experimental group obtained a significantly higher imitation score during the post-test compared to the pre-test. This study shows that it is possible to promote joint attention with a low-intensity treatment programme. The results concerning imitation are more modest. Future replications should involve measures of stability and generalization.
C1 [Warreyn, Petra; Roeyers, Herbert] Univ Ghent, B-9000 Ghent, Belgium.
RP Warreyn, P (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Res Grp Dev Disorders, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM petra.warreyn@ugent.be
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NR 90
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 658
EP 671
DI 10.1177/1362361313493834
PG 14
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900005
PM 24104513
ER
PT J
AU Hesselmark, E
Plenty, S
Bejerot, S
AF Hesselmark, Eva
Plenty, Stephanie
Bejerot, Susanne
TI Group cognitive behavioural therapy and group recreational activity for
adults with autism spectrum disorders: A preliminary randomized
controlled trial
SO AUTISM
LA English
DT Article
DE adult; Asperger disorder; autism; cognitive behaviour therapy; group;
randomized controlled trial
ID QUALITY-OF-LIFE; FUNCTIONING AUTISM; ASPERGER-SYNDROME; YOUNG-ADULTS;
DROP-OUT; CHILDREN; ANXIETY; ADOLESCENTS; POPULATION; VALIDATION
AB Although adults with autism spectrum disorder are an increasingly identified patient population, few treatment options are available. This preliminary randomized controlled open trial with a parallel design developed two group interventions for adults with autism spectrum disorders and intelligence within the normal range: cognitive behavioural therapy and recreational activity. Both interventions comprised 36 weekly 3-h sessions led by two therapists in groups of 6-8 patients. A total of 68 psychiatric patients with autism spectrum disorders participated in the study. Outcome measures were Quality of Life Inventory, Sense of Coherence Scale, Rosenberg Self-Esteem Scale and an exploratory analysis on measures of psychiatric health. Participants in both treatment conditions reported an increased quality of life at post-treatment (d = 0.39, p < 0.001), with no difference between interventions. No amelioration of psychiatric symptoms was observed. The dropout rate was lower with cognitive behavioural therapy than with recreational activity, and participants in cognitive behavioural therapy rated themselves as more generally improved, as well as more improved regarding expression of needs and understanding of difficulties. Both interventions appear to be promising treatment options for adults with autism spectrum disorder. The interventions' similar efficacy may be due to the common elements, structure and group setting. Cognitive behavioural therapy may be additionally beneficial in terms of increasing specific skills and minimizing dropout.
C1 [Hesselmark, Eva; Plenty, Stephanie; Bejerot, Susanne] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
[Bejerot, Susanne] St Goran Hosp, VUB KOGNUS, Northern Stockholm Psychiat, SE-11281 Stockholm, Sweden.
RP Hesselmark, E (reprint author), St Goran Hosp, VUB KOGNUS, Northern Stockholm Psychiat, SE-11281 Stockholm, Sweden.
EM ehesselmark@gmail.com
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NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 672
EP 683
DI 10.1177/1362361313493681
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900006
PM 24089423
ER
PT J
AU Callenmark, B
Kjellin, L
Ronnqvist, L
Bolte, S
AF Callenmark, Bjorn
Kjellin, Lars
Ronnqvist, Louise
Bolte, Sven
TI Explicit versus implicit social cognition testing in autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE Asperger's syndrome; assessment; mentalizing; neurodevelopmental
disorders; psychometrics; theory of mind
ID ASPERGER-SYNDROME; EYES TEST; MIND; ADULTS; DEFICITS; CHILDREN; SYSTEMS
AB Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents with autism spectrum disorder and 19 carefully matched typically developing controls completed the Dewey Story Test. 'Explicit' (multiple-choice answering format) and 'implicit' (free interview) measures of social cognition were obtained. Autism spectrum disorder participants did not differ from controls regarding explicit social cognition performance. However, the autism spectrum disorder group performed more poorly than controls on implicit social cognition performance in terms of spontaneous perspective taking and social awareness. Findings suggest that social cognition alterations in autism spectrum disorder are primarily implicit in nature and that an apparent absence of social cognition difficulties on certain tests using rather explicit testing formats does not necessarily mean social cognition typicality in autism spectrum disorder.
C1 [Callenmark, Bjorn] Stockholm Cty Council, Stockholm, Sweden.
[Callenmark, Bjorn; Kjellin, Lars] Orebro Cty Council, Orebro, Sweden.
[Kjellin, Lars] Univ Orebro, Orebro, Sweden.
[Ronnqvist, Louise] Umea Univ, S-90187 Umea, Sweden.
[Bolte, Sven] Karolinska Inst, S-10401 Stockholm, Sweden.
RP Bolte, S (reprint author), Karolinska Inst KIND, CAP Res Ctr, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Gavlegatan 22 B, S-11330 Stockholm, Sweden.
EM sven.bolte@ki.se
CR Baird J. A., 2001, INTENTIONS INTENTION, P193
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NR 37
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 684
EP 693
DI 10.1177/1362361313492393
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900007
PM 24104519
ER
PT J
AU Leezenbaum, NB
Campbell, SB
Butler, D
Iverson, JM
AF Leezenbaum, Nina B.
Campbell, Susan B.
Butler, Derrecka
Iverson, Jana M.
TI Maternal verbal responses to communication of infants at low and
heightened risk of autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; communication development; gesture; parent
verbal responsiveness
ID YOUNG-CHILDREN; SIBLINGS; LANGUAGE; MOTHERS; SPECTRUM; GESTURES
AB This study investigates mothers' responses to infant communication among infants at heightened genetic risk (high risk) of autism spectrum disorder compared to infants with no such risk (low risk). A total of 26 infants, 12 of whom had an older sibling with autism spectrum disorder, were observed during naturalistic in-home interaction and semistructured play with their mothers at 13 and 18 months of age. Results indicate that overall, mothers of low-risk and high-risk infants were highly and similarly responsive to their infants' communicative behaviors. However, examination of infant vocal and gestural communication development together with maternal verbal responses and translations (i.e. verbally labeling a gesture referent) suggests that delays in early communication development observed among high-risk infants may alter the input that these infants receive; this in turn may have cascading effects on the subsequent development of communication and language.
C1 [Leezenbaum, Nina B.; Campbell, Susan B.; Iverson, Jana M.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
[Butler, Derrecka] No Illinois Univ, De Kalb, IL 60115 USA.
RP Leezenbaum, NB (reprint author), Univ Pittsburgh, Dept Psychol, 3309 Sennott Sq,210 S Bouquet St, Pittsburgh, PA 15260 USA.
EM nbl3@pitt.edu
CR (APA) APA, 2000, DIAGN STAT MAN MENT
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NR 29
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 694
EP 703
DI 10.1177/1362361313491327
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900008
PM 24113343
ER
PT J
AU Stagg, SD
Slavny, R
Hand, C
Cardoso, A
Smith, P
AF Stagg, Steven D.
Slavny, Rachel
Hand, Charlotte
Cardoso, Alice
Smith, Pamela
TI Does facial expressivity count? How typically developing children
respond initially to children with autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; facial expressivity; first impressions;
friendship formation
ID PHYSICAL ATTRACTIVENESS; IMPRESSION-FORMATION; ASPERGERS-SYNDROME; 1ST
IMPRESSIONS; EMOTION; INTERVENTION; CONSEQUENCES; PERCEPTIONS;
ADOLESCENTS; LONELINESS
AB Research investigating expressivity in children with autism spectrum disorder has reported flat affect or bizarre facial expressivity within this population; however, the impact expressivity may have on first impression formation has received little research input. We examined how videos of children with autism spectrum disorder were rated for expressivity by adults blind to the condition. We further investigated the friendship ratings given by 44 typically developing children to the same videos. These ratings were compared to friendship ratings given to video clips of typically developing children. Results demonstrated that adult raters, blind to the diagnosis of the children in the videos, rated children with autism spectrum disorder as being less expressive than typically developing children. These autism spectrum disorder children were also rated lower than typically developing children on all aspects of our friendship measures by the 44 child raters. Results suggest that impression formation is less positive towards children with autism spectrum disorder than towards typically developing children even when exposure time is brief.
C1 [Stagg, Steven D.] Anglia Ruskin Univ, Cambridge CB1 1PT, England.
[Slavny, Rachel; Hand, Charlotte; Cardoso, Alice; Smith, Pamela] Univ London, London WC1E 7HU, England.
RP Stagg, SD (reprint author), Anglia Ruskin Univ, East Rd, Cambridge CB1 1PT, England.
EM steven.stagg@anglia.ac.uk
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NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 704
EP 711
DI 10.1177/1362361313492392
PG 8
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900009
PM 24121180
ER
PT J
AU Sharp, WG
Burrell, TL
Jaquess, DL
AF Sharp, William G.
Burrell, T. Lindsey
Jaquess, David L.
TI The Autism MEAL Plan: A parent-training curriculum to manage eating
aversions and low intake among children with autism
SO AUTISM
LA English
DT Article
DE autism; food selectivity; intervention; mealtime problems; parent
training; pediatric feeding disorders
ID SPECTRUM DISORDERS; FEEDING PROBLEMS; FOOD SELECTIVITY; DISRUPTIVE
BEHAVIOR; TREATMENT PROGRAM; YOUNG-CHILDREN; OUTCOMES; INTERVENTION;
FAMILIES; STRESS
AB Feeding problems represent a frequent concern reported by caregivers of children with autism spectrum disorders, and growing evidence suggests atypical patterns of intake may place this population at risk of nutritional and/or related medical issues, including chronic vitamin and mineral deficiencies, poor bone growth, and obesity. This combination of factors emphasizes a clear need to identify and disseminate evidence-based treatment of feeding problems associated with autism spectrum disorders. Behavioral intervention represents an effective treatment for chronic feeding concerns in this population; however, evidence has largely been established with trained therapists working in highly structured settings. This pilot study seeks to fill this gap in the literature by describing and evaluating the Autism MEAL Plan, a behaviorally based parent-training curriculum to address feeding problems associated with autism spectrum disorders. We assessed the feasibility of the intervention in terms of program content and study protocol (e. g. recruitment and retention of participants, assessment procedures), as well as efficacy in terms of changes in feeding behaviors. A total of 10 families participated in the treatment condition, and the program was evaluated using a waitlist control design (n = 9), representing the first randomized-control study of a feeding intervention in autism spectrum disorders. Results provide provisional support regarding the utility of the program, including high social validity, parent perception of effectiveness, and reduced levels of caregiver stress following intervention. Implications, limitations, and future directions for this line of research are discussed.
C1 [Sharp, William G.; Burrell, T. Lindsey; Jaquess, David L.] Marcus Autism Ctr, Atlanta, GA 30329 USA.
[Sharp, William G.; Jaquess, David L.] Emory Univ, Sch Med, Atlanta, GA 30322 USA.
[Burrell, T. Lindsey] Texas Tech Univ, Lubbock, TX 79409 USA.
RP Sharp, WG (reprint author), Marcus Autism Ctr, Pediat Psychol & Feeding Disorders Program, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM william.sharp@choa.org
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Solomon M, 2008, J AUTISM DEV DISORD, V38, P1767, DOI 10.1007/s10803-008-0567-5
STARK LJ, 1990, J PEDIATR PSYCHOL, V15, P659, DOI 10.1093/jpepsy/15.5.659
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Williams KE, 2007, TREATING EATING PROB
Zimmer MH, 2012, J AUTISM DEV DISORD, V42, P549, DOI 10.1007/s10803-011-1268-z
NR 43
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 712
EP 722
DI 10.1177/1362361313489190
PG 11
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900010
PM 24101716
ER
PT J
AU McConachie, H
McLaughlin, E
Grahame, V
Taylor, H
Honey, E
Tavernor, L
Rodgers, J
Freeston, M
Hemm, C
Steen, N
Le Couteur, A
AF McConachie, Helen
McLaughlin, Eleanor
Grahame, Victoria
Taylor, Helen
Honey, Emma
Tavernor, Laura
Rodgers, Jacqui
Freeston, Mark
Hemm, Cahley
Steen, Nick
Le Couteur, Ann
TI Group therapy for anxiety in children with autism spectrum disorder
SO AUTISM
LA English
DT Article
DE anxiety; autism spectrum disorder; cognitive behaviour therapy; pilot
randomised trial
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIORAL THERAPY; RANDOMIZED
CONTROLLED-TRIAL; PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME; DSM-IV;
ADOLESCENTS; PREVALENCE; SAMPLE; SCALE
AB Aim: To investigate the acceptability and feasibility of adapted group therapy for anxiety in children with autism spectrum disorder in a pilot randomised controlled trial.
Method: A total of 32 children aged 9-13 years were randomised to immediate or delayed therapy using the 'Exploring Feelings' manual (Attwood, 2004). Child and parent groups were run in parallel, for seven weekly sessions, under the supervision of experienced psychologists. The primary blinded outcome measures addressed change in overall functioning and in severity of the primary anxiety diagnosis after 3 months.
Results: Children met diagnostic criteria for 1-6 anxiety disorders (median 3). At end point, both parents and children in the immediate therapy group were more likely to report a reduction in anxiety symptoms. Fidelity of delivery of the group therapy was high, and attendance was 91%.
Conclusions: This pilot trial established that children and families were willing to be recruited and randomised, the outcome measures were acceptable, the format and content of the groups were feasible within UK child and adolescent mental health services, the intervention was appreciated by families and attrition was very small.
C1 [McConachie, Helen; Rodgers, Jacqui; Freeston, Mark; Hemm, Cahley; Steen, Nick; Le Couteur, Ann] Newcastle Univ, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
[McLaughlin, Eleanor; Grahame, Victoria; Taylor, Helen; Honey, Emma; Tavernor, Laura] Northumberland Tyne & Wear NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England.
RP McConachie, H (reprint author), Newcastle Univ, Royal Victoria Infirm, Inst Hlth & Soc, Sir James Spence Inst, 3rd Floor, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England.
EM helen.mcconachie@ncl.ac.uk
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 63
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 723
EP 732
DI 10.1177/1362361313488839
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900011
PM 24101715
ER
PT J
AU Oner, P
Oner, O
Munir, K
AF Oner, Pinar
Oner, Ozgur
Munir, Kerim
TI Three-item Direct Observation Screen (TIDOS) for autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE autism; observation; screening; Social Communication Questionnaire
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
HIGHER FUNCTIONING INDIVIDUALS; ADAPTIVE-BEHAVIOR SCALES;
PRESCHOOL-CHILDREN; DIAGNOSTIC INTERVIEW; MODIFIED CHECKLIST; FOLLOW-UP;
HIGH-RISK; TODDLERS
AB We compared ratings on the Three-Item Direct Observation Screen test for autism spectrum disorders completed by pediatric residents with the Social Communication Questionnaire parent reports as an augmentative tool for improving autism spectrum disorder screening performance. We examined three groups of children (18-60 months) comparable in age (18-24 month, 24-36 month, 36-60 preschool subgroups) and gender distribution: n = 86 with Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) autism spectrum disorders; n = 76 with developmental delay without autism spectrum disorders; and n = 97 with typical development. The Three-Item Direct Observation Screen test included the following (a) Joint Attention, (b) Eye Contact, and (c) Responsiveness to Name. The parent Social Communication Questionnaire ratings had a sensitivity of .73 and specificity of .70 for diagnosis of autism spectrum disorders. The Three-Item Direct Observation Screen test item Joint Attention had a sensitivity of .82 and specificity of .90, Eye Contact had a sensitivity of .89 and specificity of .91, and Responsiveness to Name had a sensitivity of .67 and specificity of .87. In the Three-Item Direct Observation Screen test, having at least one of the three items positive had a sensitivity of .95 and specificity of .85. Age, diagnosis of autism spectrum disorder, and developmental level were important factors affecting sensitivity and specificity. The results indicate that augmentation of autism spectrum disorder screening by observational items completed by trained pediatric-oriented professionals can be a highly effective tool in improving screening performance. If supported by future population studies, the results suggest that primary care practitioners will be able to be trained to use this direct procedure to augment screening for autism spectrum disorders in the community.
C1 [Oner, Pinar; Oner, Ozgur] Dr Sami Ulus Childrens Hosp, Child & Adolescent Psychiat Dept, Autism Ctr Excellence, TR-06100 Ankara, Turkey.
[Munir, Kerim] Childrens Hosp Boston, Boston, MA USA.
[Munir, Kerim] Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
RP Oner, O (reprint author), Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06100 Ankara, Turkey.
EM ozgur.oner@yahoo.com
RI Munir, Kerim/D-6910-2015
OI Munir, Kerim/0000-0002-2404-1806
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NR 39
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 733
EP 742
DI 10.1177/1362361313487028
PG 10
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900012
PM 24126869
ER
PT J
AU Sullivan, JC
Miller, LJ
Nielsen, DM
Schoen, SA
AF Sullivan, Jillian C.
Miller, Lucy J.
Nielsen, Darcy M.
Schoen, Sarah A.
TI The presence of migraines and its association with sensory
hyperreactivity and anxiety symptomatology in children with autism
spectrum disorder
SO AUTISM
LA English
DT Article
DE anxiety; autism; hyperreactivity; migraines; sensory processing
ID OVER-RESPONSIVITY; SYMPTOMS
AB Migraine headaches are associated with sensory hyperreactivity and anxiety in the general population, but it is unknown whether this is also the case in autism spectrum disorders. This pilot study asked parents of 81 children (aged 7-17 years) with autism spectrum disorders to report their child's migraine occurrence, sensory hyperreactivity (Sensory Over-Responsivity Inventory), and anxiety symptoms (Spence Child Anxiety Scale). Children with autism spectrum disorders who experienced migraine headaches showed greater sensory hyperreactivity and anxiety symptomatology (p < 0.01; medium effect size for both) than those without migraines. Sensory hyperreactivity and anxiety symptomatology were additionally correlated (rho = 0.31, p = 0.005). This study provides preliminary evidence for a link between migraine headaches, sensory hyperreactivity, and anxiety symptomatology in autism spectrum disorders, which may suggest strategies for subtyping and exploring a common pathogenesis.
C1 [Sullivan, Jillian C.; Miller, Lucy J.; Nielsen, Darcy M.; Schoen, Sarah A.] Sensory Proc Disorder Fdn, Greenwood Village, CO 80111 USA.
[Miller, Lucy J.; Schoen, Sarah A.] Rocky Mt Univ Hlth Profess, Provo, UT USA.
[Miller, Lucy J.] Univ Colorado Denver, Denver, CO USA.
RP Sullivan, JC (reprint author), Sensory Proc Disorder Fdn, 5420 S Quebec St,Suite 135, Greenwood Village, CO 80111 USA.
EM jillian.sullivan@cantab.net
CR Allison C, 2012, J AM ACAD CHILD PSY, V51, P202, DOI 10.1016/j.jaac.2011.11.003
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NR 16
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD AUG
PY 2014
VL 18
IS 6
BP 743
EP 747
DI 10.1177/1362361313489377
PG 5
WC Psychology, Developmental
SC Psychology
GA AQ2SE
UT WOS:000342637900013
PM 24072661
ER
PT J
AU Cidav, Z
Marcus, SC
Mandell, DS
AF Cidav, Zuleyha
Marcus, Steven C.
Mandell, David S.
TI Home- and Community-Based Waivers for Children With Autism: Effects on
Service Use and Costs
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Medicaid; outpatient care; inpatient/long-term
care; home- and community-based waivers
ID HEALTH-CARE EXPENDITURES; LONG-TERM CARE; MEDICAID HOME; SPECTRUM
DISORDERS; PROGRAM; DIAGNOSIS; CLAIMS; STATES
AB We examined (a) the associations between Medicaid home and community-based waiver participation and service use and expenditures among children with ASD; and (b) how states' waiver spending moderates these effects. We used 2005 Medicaid claims to identify a sample of children with autism spectrum disorder (ASD). We selected two comparison groups who had no waiver participation: (a) children who were eligible for Medicaid through disability (disability group), and (b) children who had at least one inpatient/long-term care (IP/LT) episode (IP/LT group). Waiver participants were less likely to use IP/LT services and had lower associated expenditures than the disability group. As states' waiver spending increased, waiver participants became increasingly less likely to use IP/LT services. Waiver participants had more outpatient visits and associated expenditures; this difference increased as state waiver spending increased. Compared with the IP/LT group, waiver participants had lower IP/LT expenditures, more outpatient visits, and associated expenditures. Higher state waiver generosity increased this effect on outpatient visits and expenditures.
C1 [Cidav, Zuleyha; Marcus, Steven C.; Mandell, David S.] Univ Penn, Philadelphia, PA 19104 USA.
RP Cidav, Z (reprint author), Univ Penn, 3535 Market St, Philadelphia, PA 19104 USA.
EM zcidav@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 38
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 239
EP 248
DI 10.1352/1934-9556-52.4.239
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600001
PM 25061768
ER
PT J
AU Mehling, MH
Tasse, MJ
AF Mehling, Margaret H.
Tasse, Marc J.
TI Empirically Derived Model of Social Outcomes and Predictors for Adults
With ASD
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism Spectrum Disorder; social outcomes; community inclusion; social
relationships; friendships; choice; access to services; social
determination; National Core Indicators
ID RECEPTIVE LANGUAGE DISORDER; AUTISM SPECTRUM DISORDERS; QUALITY-OF-LIFE;
FOLLOW-UP; DISABILITIES; ADOLESCENCE; CHILDHOOD; CHILDREN
AB This study used data from the National Core Indicators (NCI) Survey to derive an empirically validated measurement model for social outcomes and associated constructs for both individuals with Autism Spectrum Disorder (ASD) and individuals with other disabilities. Items consistent with the survey structure of the NCI were selected as initial indicators of the latent constructs Social Relationships, Community Inclusion, and Opportunity for Choice in factor analyses. Results yielded a novel factor structure that is different from the original NCI survey structure. Three factors emerged as a result of these analyses: Personal Control, Social Determination, and Social Participation and Relationships. The factor structure of each of these constructs was consistent although not identical across individuals with ASD and individuals with developmental disabilities other than ASD.
C1 [Mehling, Margaret H.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA.
[Tasse, Marc J.] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
RP Mehling, MH (reprint author), Ohio State Univ, Dept Psychol, Nisonger Ctr, McCampbell Hall,1581 Dodd Dr, Columbus, OH 43210 USA.
EM mehling.19@osu.edu
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NR 31
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 282
EP 295
DI 10.1352/1934-9556-52.4.282
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600005
PM 25061772
ER
PT J
AU Wehman, P
Chan, F
Ditchman, N
Kang, HJ
AF Wehman, Paul
Chan, Fong
Ditchman, Nicole
Kang, Hyun-Ju
TI Effect of Supported Employment on Vocational Rehabilitation Outcomes of
Transition-Age Youth With Intellectual and Developmental Disabilities: A
Case Control Study
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE supported employment; intellectual disability; developmental disability;
vocational rehabilitation; propensity score matching
ID AUTISM SPECTRUM DISORDER; YOUNG-ADULTS; EXPERIENCES; SERVICES; SCHOOL;
WORK
AB The purpose of this study was to examine the effect of supported employment intervention on the employment outcomes of transition-age youth with intellectual and developmental disabilities served by the public vocational rehabilitation system using a case-control study design. Data for this study were extracted from the Rehabilitation Services Administration Case Service Report (RSA911) database for fiscal year 2009. The sample included 23,298 youth with intellectual and developmental disabilities aged between 16 and 25 years old at the time of application. The classification and regression tree (CART) method was used to estimate propensity scores and to adjust for selection bias on the basis of all prominent covariates relevant to the dependent variable (i.e., competitive employment). Results yielded six homogeneous subgroups, and receipt of supported employment was found to increase the employment rates across all of the groups. The effect of supported employment was especially strong for youth who were Social Security beneficiaries, special education students, and individuals with intellectual disabilities or autism who were high school graduates. These findings suggest that supported employment is an effective service for enhancing the vocational rehabilitation outcomes of young adults and provides valuable information for policy makers, health care providers, rehabilitation counselors, and educators.
C1 [Wehman, Paul] Virginia Commonwealth Univ, Dept Phys Med & Rehabil, Richmond, VA 23284 USA.
[Chan, Fong] Univ Wisconsin Madison, Rehabil Res & Training Ctr Evidence Based Vocat R, Madison, WI USA.
[Ditchman, Nicole] IIT, Dept Psychol, Chicago, IL 60616 USA.
[Kang, Hyun-Ju] Univ Wisconsin Madison, Dept Rehabil Psychol & Special Educ, Madison, WI USA.
RP Wehman, P (reprint author), Virginia Commonwealth Univ, Med Coll Virginia, 1314 W Main St, Richmond, VA 23284 USA.
EM pwehman@vcu.org
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NR 46
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD AUG
PY 2014
VL 52
IS 4
BP 296
EP 310
DI 10.1352/1934-9556-52.4.296
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VW
UT WOS:000342722600006
PM 25061773
ER
PT J
AU Seltzer, LE
Ma, MD
Ahmed, S
Bertrand, M
Dobyns, WB
Wheless, J
Paciorkowski, AR
AF Seltzer, Laurie E.
Ma, Mandy
Ahmed, Sohnee
Bertrand, Mary
Dobyns, William B.
Wheless, James
Paciorkowski, Alex R.
TI Epilepsy and outcome in FOXG1-related disorders
SO EPILEPSIA
LA English
DT Article
DE FOXG1; 14q12; Infantile spasms; Epilepsy; Developmental outcome
ID RETT-SYNDROME; INFANTILE SPASMS; MENTAL-RETARDATION; CONGENITAL VARIANT;
FOXG1; PHENOTYPE; ENCEPHALOPATHIES; GENOTYPE; 14Q12; TELENCEPHALON
AB Objective: FOXG1-related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. Duplications of 14q12 often present with infantile spasms, and have subsequent intellectual disability with autistic features. Long-term epilepsy outcome and response to treatment have not been studied systematically in a well-described cohort of subjects with FOXG1-related disorders. We report on the epilepsy features and developmental outcome of 23 new subjects with deletions or intragenic mutations of FOXG1, and 7 subjects with duplications.
Methods: Subjects had either chromosomal microarray or FOXG1 gene sequencing performed as part of routine clinical care. Development and epilepsy follow-up data were collected from medical records from treating neurologists and through telephone parental interviews using standardized questionnaires.
Results: Epilepsy was diagnosed in 87% of the subjects with FOXG1-related disorders. The mean age of epilepsy diagnosis in FOXG1 duplications was significantly younger than those with deletions/intragenic mutations (p = 0.0002). All of the duplication FOXG1 children with infantile spasms responded to hormonal therapy, and only one required long-term antiepileptic therapy. In contrast, more children with deletions/intragenic mutations required antiepileptic drugs on follow-up (p < 0.0005). All subjects with FOXG1-related disorders had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or intractability of seizures. All had impaired verbal language and social contact, and three duplication subjects were formally diagnosed with autism. Subjects with deletion/intragenic mutations, however, had significantly worse ambulation (p = 0.04) and functional hand use (p < 0.0005).
Significance: Epilepsy and developmental outcome characteristics allow clinicians to distinguish among the FOXG1-related disorders. Further genotype-phenotype studies of FOXG1 may help to elucidate why children develop different forms of developmental epilepsy.
C1 [Seltzer, Laurie E.; Ahmed, Sohnee; Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA.
[Ma, Mandy; Bertrand, Mary] Washington Univ, Pediat Epilepsy Ctr, Dept Neurol, St Louis, MO USA.
[Bertrand, Mary] Washington Univ, Dept Pediat, Pediat Epilepsy Ctr, St Louis, MO 63130 USA.
[Dobyns, William B.] Univ Washington, Ctr Integrat Brain Res, Seattle Res Inst, Dept Neurol, Seattle, WA 98195 USA.
[Dobyns, William B.] Univ Washington, Ctr Integrat Brain Res, Seattle Res Inst, Div Genet Med,Dept Pediat, Seattle, WA 98195 USA.
[Wheless, James] LeBonheur Childrens Hosp, Memphis, TN USA.
[Wheless, James] Univ Tennessee, Memphis, TN USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Ctr Neural Dev & Dis, Dept Pediat, Rochester, NY 14642 USA.
[Paciorkowski, Alex R.] Univ Rochester, Med Ctr, Ctr Neural Dev & Dis, Dept Biomed Genet, Rochester, NY 14642 USA.
RP Paciorkowski, AR (reprint author), Univ Rochester, Med Ctr, 601 Elmwood Ave, Rochester, NY 14642 USA.
EM Alex_Paciorkowski@urmc.rochester.edu
FU National Institute of Neurological Disorders and Stroke (NINDS) of the
National Institutes of Health (NIH) [K12NS066098, R01NS058721]; Child
Neurology Foundation; [K08NS078054]
FX We wish to acknowledge the FOXG1 Foundation for referring subjects to
this study. Research reported in this publication was supported by the
National Institute of Neurological Disorders and Stroke (NINDS) of the
National Institutes of Health (NIH) under award numbers K12NS066098 (to
L. E. S.) R01NS058721 (to W. B. D.), the Child Neurology Foundation
Logan Infantile Spasms Award (to A. R. P), and K08NS078054 (to A.R.P.).
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NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD AUG
PY 2014
VL 55
IS 8
BP 1292
EP 1300
DI 10.1111/epi.12648
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AP7CW
UT WOS:000342236400024
PM 24836831
ER
PT J
AU Wegbreit, E
Cushman, GK
Puzia, ME
Weissman, AB
Kim, KL
Laird, AR
Dickstein, DP
AF Wegbreit, Ezra
Cushman, Grace K.
Puzia, Megan E.
Weissman, Alexandra B.
Kim, Kerri L.
Laird, Angela R.
Dickstein, Daniel P.
TI Developmental Meta-analyses of the Functional Neural Correlates of
Bipolar Disorder
SO JAMA PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; VOXEL-BASED MORPHOMETRY; FALSE DISCOVERY
RATE; RESPONSE-INHIBITION; FACIAL EXPRESSIONS; MOTOR INHIBITION; ALE
METAANALYSIS; NATIONAL TRENDS; FOLLOW-UP; BRAIN
AB IMPORTANCE Bipolar disorder (BD) is a debilitating mental illness associated with high costs to diagnosed individuals and society. Within the past 2 decades, increasing numbers of children and adolescents have been diagnosed as having BD. While functional magnetic resonance imaging (fMRI) studies have begun to investigate the neural mechanisms underlying BD, few have directly compared differences in youths with BD and adults with BD (hereafter BD-youths and BD-adults, respectively).
OBJECTIVE To test the hypothesis that BD-youths (<18 years old) would show greater convergence of amygdala hyperactivation and prefrontal cortical hypoactivation vs BD-adults.
DATA SOURCES PubMed and PsycINFO databases were searched on July 17, 2013, for original, task-related coordinate-based fMRI articles.
STUDY SELECTION In total, 21 pediatric studies, 73 adult studies, and 2 studies containing distinct pediatric and adult groups within the same study met inclusion criteria for our ALE analyses.
DATA EXTRACTION AND SYNTHESIS Coordinates of significant between-group differences were extracted from each published study. Recent improvements in GingerALE software were used to perform direct comparisons of pediatric and adult fMRI findings. We conducted activation likelihood estimation (ALE) meta-analyses directly comparing the voxelwise convergence of fMRI findings in BD-youths vs BD-adults, both relative to healthy control (HC) participants.
RESULTS Analyses of emotional face recognition fMRI studies showed significantly greater convergence of amygdala hyperactivation among BD-youths than BD-adults. More broadly, analyses of fMRI studies using emotional stimuli showed significantly greater convergence of hyperactivation among BD-youths than BD-adults in the inferior frontal gyrus and precuneus. In contrast, analyses of fMRI studies using nonemotional cognitive tasks and analyses aggregating emotional and nonemotional tasks showed significantly greater convergence of hypoactivation among BD-youths than BD-adults in the anterior cingulate cortex.
CONCLUSIONS AND RELEVANCE Our data suggest that amygdala, prefrontal, and visual system hyperactivation is important in the emotional dysfunction present in BD-youths, as well as that anterior cingulate cortex hypoactivation is relevant to the cognitive deficits in BD-youths. Future studies are required to determine if the developmental fMRI differences between BD-youths and BD-adults identified by our ALE meta-analyses are useful as brain-based diagnostic or treatment markers of BD, including either longitudinal neuroimaging studies of BD-youths as they become adults or cross-sectional imaging studies directly comparing BD-youths with BD-adults.
C1 [Wegbreit, Ezra; Cushman, Grace K.; Puzia, Megan E.; Weissman, Alexandra B.; Kim, Kerri L.; Dickstein, Daniel P.] Brown Univ, Alpert Med Sch, Dept Psychiat & Human Behav, Pediat Mood Imaging & Neurodev Program, East Providence, RI 02915 USA.
[Wegbreit, Ezra; Cushman, Grace K.; Puzia, Megan E.; Weissman, Alexandra B.; Kim, Kerri L.; Dickstein, Daniel P.] Bradley Hosp, East Providence, RI USA.
[Laird, Angela R.] Florida Int Univ, Dept Phys, Miami, FL 33199 USA.
RP Wegbreit, E (reprint author), Brown Univ, Alpert Med Sch, Dept Psychiat & Human Behav, Pediat Mood Imaging & Neurodev Program, 1011 Vet Mem Pkwy, East Providence, RI 02915 USA.
EM ezra_wegbreit@brown.edu
FU National Institutes of Health [5T32-MH019927-20, R01-MH074457,
R01-MH084812, 5R01-MH087513, 1R21-MH096850, 1R01-MH099703,
5R01-MH092450]
FX Dr Wegbreit is supported by grant 5T32-MH019927-20 from the National
Institutes of Health. Dr Laird is supported by grants R01-MH074457 and
R01-MH084812 from the National Institutes of Health. Mss Cushman, Puzia,
and Weissman and Drs Kim and Dickstein are supported by grants
5R01-MH087513, 1R21-MH096850, 1R01-MH099703, and 5R01-MH092450 from the
National Institutes of Health, although the present study was not part
of any of these grants.
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NR 74
TC 1
Z9 1
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 926
EP 935
DI 10.1001/jamapsychiatry.2014.660
PG 10
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600011
PM 25100166
ER
PT J
AU Lyall, K
Constantino, JN
Weisskopf, MG
Roberts, AL
Ascherio, A
Santangelo, SL
AF Lyall, Kristen
Constantino, John N.
Weisskopf, Marc G.
Roberts, Andrea L.
Ascherio, Alberto
Santangelo, Susan L.
TI Parental Social Responsiveness and Risk of Autism Spectrum Disorder in
Offspring
SO JAMA PSYCHIATRY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; GENERAL-POPULATION; SCALE SRS;
DIAGNOSTIC INTERVIEW; TRAITS; SIBLINGS; TWIN; IMPAIRMENT; VALIDATION;
RECURRENCE
AB IMPORTANCE Although autism spectrum disorder (ASD) is known to be heritable, patterns of inheritance of subclinical autistic traits in nonclinical samples are poorly understood.
OBJECTIVE To examine the familiality of Social Responsiveness Scale (SRS) scores of individuals with and without ASD.
DESIGN, SETTING, AND PARTICIPANTS We performed a nested case-control study (pilot study: July 1, 2007, through June 30,2009; full-scale study: September 15, 20 08, through September 14, 2012) within a population-based longitudinal cohort. Participants were drawn from the Nurses' Health Study II, a cohort of 116 430 female nurses recruited in 1989. Case participants were index children with reported ASD; control participants were frequency matched by year of birth of case participants among those not reporting ASD. Of 3161 eligible participants, 2144 nurses (67.8%) returned SRS forms for a child and at least 1 parent and were included in these analyses.
EXPOSURE The SRS scores, as reported by nurse mothers and their spouses, were examined in association with risk of ASD using crude and adjusted logistic regression analyses. The SRS scores of the children were examined in association with SRS scores of the parents using crude and adjusted linear regression analyses stratified by case status.
MAIN OUTCOMES AND MEASURES Autism spectrum disorder, assessed by maternal report, validated in a subgroup with the Autism Diagnostic Interview-Revised.
RESULTS A total of 1649 individuals were included in these analyses, including 256 ASD case participants, 1393 control participants, 1233 mothers, and 1614 fathers. Risk of ASD was increased by 85.0% among children whose parents had concordantly elevated SRS scores (odds ratio [OR] 1.85; 95% CI, 1.08-3.16) and by 52.0% when the score of either parent was elevated (OR, 1.52; 95% CI, 1.11-2.06). Elevated scores of the father significantly increased the risk of ASD in the child (OR, 1.94; 95% CI, 1.38-2.71), but no association was seen with elevated scores of the mother. Elevated parent scores significantly increased child scores in controls, corresponding to an increase in 23 points (P < .001).
CONCLUSIONS AND RELEVANCE These findings support the role of additive genetic influences in concentrating inherited ASD susceptibility in successive generations and the potential role of preferential mating, and suggest that typical variation in parental social functioning can produce clinically significant differences in offspring social traits.
C1 [Lyall, Kristen; Ascherio, Alberto] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.
[Lyall, Kristen] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Constantino, John N.] Washington Univ, Dept Psychiat, St Louis, MO USA.
[Weisskopf, Marc G.; Ascherio, Alberto; Santangelo, Susan L.] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.
[Weisskopf, Marc G.] Harvard Univ, Sch Publ Hlth, Dept Environm Hlth, Boston, MA 02115 USA.
[Roberts, Andrea L.] Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, Boston, MA 02115 USA.
[Ascherio, Alberto] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA.
[Ascherio, Alberto] Harvard Univ, Sch Med, Boston, MA 02115 USA.
[Santangelo, Susan L.] Maine Med Ctr, Res Inst, Dept Psychiat, Portland, ME USA.
RP Lyall, K (reprint author), Harvard Univ, Sch Publ Hlth, Dept Nutr, 655 Huntington Ave,Bldg 2,Third Floor, Boston, MA 02115 USA.
EM klyall@hsph.harvard.edu
FU National Institutes of Health [CA50385, HD062171, HD042541]; Autism
Speaks [1788, 2210]; US Army Medical Research and Material Command
[A-14917]
FX This work was supported by grants CA50385, HD062171, and HD042541 from
the National Institutes of Health, grants 1788 and 2210 from Autism
Speaks, and grant A-14917 from the US Army Medical Research and Material
Command.
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Yang Y, 2013, MULTIPLE IMPUTATION
NR 36
TC 3
Z9 3
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 936
EP 942
DI 10.1001/jamapsychiatry.2014.476
PG 7
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600012
PM 25100167
ER
PT J
AU Hoffmann, TJ
Windham, GC
Anderson, M
Croen, LA
Grether, JK
Risch, N
AF Hoffmann, Thomas J.
Windham, Gayle C.
Anderson, Meredith
Croen, Lisa A.
Grether, Judith K.
Risch, Neil
TI Evidence of Reproductive Stoppage in Families With Autism Spectrum
Disorder A Large, Population-Based Cohort Study
SO JAMA PSYCHIATRY
LA English
DT Article
ID EPIDEMIOLOGIC SURVEY; RISK; RECURRENCE; TWIN; SIBLINGS
AB IMPORTANCE Few studies have examined the curtailment of reproduction (ie, stoppage) after the diagnosis of a child with autism spectrum disorder (ASD).
OBJECTIVE To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of ASD.
DESIGN, SETTING, AND PARTICIPANTS Individuals with ASD born from January 1,1990, through December 31, 2003, were identified in the California Department of Developmental Services records, which were then linked to state birth certificates to identify full sibs and half-sibs and to obtain information on birth order and demographics. A total of 19 710 case families in which the first birth occurred within the study period was identified. These families included 39 361 individuals (sibs and half-sibs). Control individuals were randomly sampled from birth certificates and matched 2:1 to cases by sex, birth year, and maternal age, self-reported race/ethnicity, and county of birth after removal of children receiving services from the California Department of Developmental Services. Using similar linkage methods as for case families, 36 215 pure control families (including 75 724 total individuals) were identified that had no individuals with an ASD diagnosis.
EXPOSURES History of affected children.
MAIN OUTCOMES AND MEASURES Stoppage was investigated by comparing the reproductive behaviors of parents after the birth of a child with ASD vs an unaffected child using a survival analysis framework for time to next birth and adjusting for demographic variables.
RESULTS For the first few years after the birth of a child with ASD, the parents' reproductive behavior was similar to that of control parents. However, birth rates differed in subsequent years; overall, families whose first child had ASD had a second child at a rate of 0.668 (95% CI, 0.635-0.701) that of control families, adjusted for birth year, birth weight, maternal age, and self-reported maternal race/ethnicity. Results were similar when a later-born child was the first affected child in the family. Reproductive curtailment was slightly stronger among women who changed partners (relative rate for second-born children, 0.553 [95% CI, 0.498-0.614]).
CONCLUSIONS AND RELEVANCE These results provide the first quantitative assessment and convincing statistical evidence of reproductive stoppage related to ASD. These findings have implications for recurrence risk estimation and genetic counseling.
C1 [Hoffmann, Thomas J.; Risch, Neil] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Hoffmann, Thomas J.; Risch, Neil] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Windham, Gayle C.; Anderson, Meredith; Grether, Judith K.] Calif Dept Publ Hlth, Environm Hlth Invest Branch, Richmond, CA USA.
[Croen, Lisa A.; Risch, Neil] Kaiser Permanente, Div Res, Oakland, CA USA.
RP Risch, N (reprint author), Univ Calif San Francisco, Inst Human Genet, 513 Parnassus Ave, San Francisco, CA 94143 USA.
EM rischn@humgen.ucsf.edu
FU Institute for Human Genetics, University of California, San Francisco;
National Cancer Institute [R25 CA112355]
FX This work was supported by funds from the Institute for Human Genetics,
University of California, San Francisco, and by grant R25 CA112355 from
the National Cancer Institute.
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NR 20
TC 1
Z9 1
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD AUG
PY 2014
VL 71
IS 8
BP 943
EP 951
DI 10.1001/jamapsychiatry.2014.420
PG 9
WC Psychiatry
SC Psychiatry
GA AP0SP
UT WOS:000341774600013
PM 24942798
ER
PT J
AU Laprime, AP
Dittrich, GA
AF Laprime, Amanda P.
Dittrich, Gretchen A.
TI An Evaluation of a Treatment Package Consisting of Discrimination
Training and Differential Reinforcement with Response Cost and a Social
Story on Vocal Stereotypy for a Preschooler with Autism in a Preschool
Classroom
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Vocal Stereotypy; Response Cost; Differential Reinforcement;
Changing-Criterion Design
ID AUTOMATIC REINFORCEMENT; BEHAVIOR DISORDERS; YOUNG-CHILDREN; DRL; INJURY
AB The purpose of the study was to evaluate the use of a treatment package comprised of a social story, discrimination training, and differential reinforcement with response cost on the vocal stereotypy of one preschooler diagnosed with an autism spectrum disorder. The study took place in a preschool classroom of a public school and was implemented by the classroom teacher and staff. A changing criterion design was employed to evaluate experimental control. The results of this study demonstrated a clear decrease in vocal stereotypy as compared to baseline.
C1 [Laprime, Amanda P.; Dittrich, Gretchen A.] Simmons Coll, Boston, MA 02115 USA.
RP Laprime, AP (reprint author), Simmons Coll, Dept Behav Anal, 300 Fenway, Boston, MA 02115 USA.
EM aplaprime@gmail.com
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NR 38
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD AUG
PY 2014
VL 37
IS 3
BP 407
EP 430
PG 24
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP4GL
UT WOS:000342035100003
ER
PT J
AU Ruan, CS
Wang, SF
Shen, YJ
Guo, Y
Yang, CR
Zhou, FH
Tan, LT
Zhou, L
Liu, JJ
Wang, WY
Xiao, ZC
Zhou, XF
AF Ruan, Chun-Sheng
Wang, Shu-Fen
Shen, Yan-Jun
Guo, Yi
Yang, Chun-Rui
Zhou, Fiona H.
Tan, Li-Tao
Zhou, Li
Liu, Jian-Jun
Wang, Wen-Yue
Xiao, Zhi-Cheng
Zhou, Xin-Fu
TI Deletion of TRIM32 protects mice from anxiety- and depression-like
behaviors under mild stress
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE affective behavior; CUMS; fluoxetine; locomotor activity; TRIM32
ID ADULT HIPPOCAMPAL NEUROGENESIS; ELEVATED ZERO-MAZE; DYSTROPHY TYPE 2H;
SOCIAL-ISOLATION; MOUSE MODEL; RAT MODEL; APOPTOSIS; CELLS; DOPAMINE;
DIFFERENTIATION
AB Chronic stress causes a variety of psychiatric disorders such as anxiety and depression, but its mechanism is not well understood. Tripartite motif-containing protein 32 (TRIM32) was strongly associated with autism spectrum disorder, attention deficit hyperactivity disorder, anxiety and obsessive compulsive disorder based on a study of copy number variation, and deletion of TRIM32 increased neural proliferation and reduced apoptosis. Here, we propose that TRIM32 is involved in chronic stress-induced affective behaviors. Using a chronic unpredictable mild stress mouse depression model, we studied expression of TRIM32 in brain tissue samples and observed behavioral changes in Trim32 knockout mice. The results showed that TRIM32 protein but not its mRNA was significantly reduced in hippocampus in a time-dependent manner within 8 weeks of chronic stress. These stress-induced affective behaviors and reduction of TRIM32 protein expression were significantly reversed by antidepressant fluoxetine treatment. In addition, Trim32 knockout mice showed reduced anxiety and depressive behaviors and hyperactivities compared with Trim32 wild-type mice under normal and mild stress conditions. We conclude that TRIM32 plays important roles in regulation of hyperactivities and positively regulates the development of anxiety and depression disorders induced by chronic stress.
C1 [Ruan, Chun-Sheng; Wang, Shu-Fen; Shen, Yan-Jun; Guo, Yi; Yang, Chun-Rui; Tan, Li-Tao; Zhou, Li; Liu, Jian-Jun; Wang, Wen-Yue; Xiao, Zhi-Cheng; Zhou, Xin-Fu] Kunming Med Univ, Inst Mol & Clin Med, Key Lab Stem Cell & Regenerat Med, Kunming, Peoples R China.
[Ruan, Chun-Sheng; Zhou, Fiona H.; Zhou, Xin-Fu] Univ S Australia, Sch Pharm & Med Sci, Div Hlth Sci, Adelaide, SA 5000, Australia.
[Shen, Yan-Jun; Guo, Yi; Yang, Chun-Rui] Kunming Med Univ, Sch Med Sci, Kunming, Peoples R China.
[Xiao, Zhi-Cheng] Monash Univ, Dept Anat & Dev Biol, Clayton, Vic, Australia.
RP Ruan, CS (reprint author), Univ S Australia, Sch Pharm & Med Sci, Div Hlth Sci, Adelaide, SA 5000, Australia.
EM ruacy004@mymail.unisa.edu.au
FU Chinese MST [2011CB944200]; NHMRC [APP1021408, APP1021409]; Talent
Program of Yunnan Province, China; Monash University, Australia;
KMU-UIEP [CX201111, CX201244, CX201241]
FX We thank Dr H. Ding for kindly providing TRIM32 knockout mice and Dr J.
C. Schwamborn for kindly providing antibody against TRIM32. We thank Dr
B. T. Baune for valuable comments. This work was supported by grants
from the Chinese MST 2011CB944200 and NHMRC grants (APP1021408 and
APP1021409), the Talent Program of Yunnan Province, China, and The
Professorial Fellowship of Monash University, Australia, to Z.C.X., and
KMU-UIEP grants (CX201111, CX201244 and CX201241) to C. S. R. X.F.Z. is
a visiting Professor of KMU.
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NR 55
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD AUG
PY 2014
VL 40
IS 4
BP 2680
EP 2690
DI 10.1111/ejn.12618
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AP3NF
UT WOS:000341982100009
PM 24839933
ER
PT J
AU Hebert, B
Pietropaolo, S
Meme, S
Laudier, B
Laugeray, A
Doisne, N
Quartier, A
Lefeuvre, S
Got, L
Cahard, D
Laumonnier, F
Crusio, WE
Pichon, J
Menuet, A
Perche, O
Briault, S
AF Hebert, Betty
Pietropaolo, Susanna
Meme, Sandra
Laudier, Beatrice
Laugeray, Anthony
Doisne, Nicolas
Quartier, Angelique
Lefeuvre, Sandrine
Got, Laurence
Cahard, Dominique
Laumonnier, Frederic
Crusio, Wim E.
Pichon, Jacques
Menuet, Arnaud
Perche, Olivier
Briault, Sylvain
TI Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa
channel opener molecule
SO ORPHANET JOURNAL OF RARE DISEASES
LA English
DT Article
DE Fragile X Syndrome; BMS-204352; BKCa channel; Sociability; Cognition;
Anxiety
ID ELEVATED PLUS-MAZE; MENTAL-RETARDATION SYNDROME; SYNDROME MOUSE MODEL;
2-TRIAL MEMORY TASK; KNOCKOUT MICE; POTASSIUM CHANNELS; BEHAVIOR;
AUTISM; MORPHOLOGY; ANXIETY
AB Background: Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FXS neurobehavioral phenotypes.
Methods and results: We used a selective BKCa channel opener molecule (BMS-204352) to address this issue in Fmr1 KO mice, modeling the FXS pathophysiology. In vitro, acute BMS-204352 treatment (10 mu M) restored the abnormal dendritic spine phenotype. In vivo, a single injection of BMS-204352 (2 mg/kg) rescued the hippocampal glutamate homeostasis and the behavioral phenotype. Indeed, disturbances in social recognition and interaction, non-social anxiety, and spatial memory were corrected by BMS-204352 in Fmr1 KO mice.
Conclusion: These results demonstrate that the BKCa channel is a new therapeutic target for FXS. We show that BMS-204352 rescues a broad spectrum of behavioral impairments (social, emotional and cognitive) in an animal model of FXS. This pharmacological molecule might open new ways for FXS therapy.
C1 [Hebert, Betty; Laudier, Beatrice; Laugeray, Anthony; Doisne, Nicolas; Quartier, Angelique; Pichon, Jacques; Menuet, Arnaud; Perche, Olivier; Briault, Sylvain] CNRS, UMR7355, F-45071 Orleans, France.
[Hebert, Betty; Laudier, Beatrice; Laugeray, Anthony; Doisne, Nicolas; Quartier, Angelique; Pichon, Jacques; Menuet, Arnaud; Perche, Olivier; Briault, Sylvain] Univ Orleans, F-45071 Orleans 2, France.
[Pietropaolo, Susanna; Crusio, Wim E.] CNRS, Aquitaine Inst Cognit & Integrat Neurosci, UMR 5287, Talence, France.
[Pietropaolo, Susanna; Crusio, Wim E.] Univ Bordeaux, Aquitaine Inst Cognit & Integrat Neurosci, F-33405 Talence, France.
[Meme, Sandra] Univ Orleans, CNRS, Ctr Biophys Mol, UPR4301, F-45071 Orleans, France.
[Laudier, Beatrice; Lefeuvre, Sandrine; Got, Laurence; Perche, Olivier; Briault, Sylvain] Reg Hosp, Dept Genet, F-45100 Orleans, France.
[Cahard, Dominique] INSA Rouen, UMR CNRS CBRA 6014, F-76821 Mont St Aignan, France.
[Laumonnier, Frederic] INSERM, U930, F-37032 Tours, France.
[Laumonnier, Frederic] Univ Tours, UMR Imagerie & Cerveau, F-37000 Tours, France.
RP Briault, S (reprint author), CNRS, UMR7355, F-45071 Orleans, France.
EM sbriault@cnrs-orleans.fr
RI Crusio, Wim/A-7070-2008
OI Crusio, Wim/0000-0001-6638-202X
FU Fondation de France [015448]; FRAXA Research Foundation (USA); FEDER
Autism [35106]; Fondation Lejeune; CNRS (Soutien au transfert)
[04388-02]; Region Centre; Regional Hospital of Orleans; University of
Orleans; Project FP7 GENCODYS [241995]; March of Dimes [12-FY05-1198];
Conseil Regional d'Aquitaine; CNRS; University of Bordeaux 1
FX We would like to thank Melanie Marcos for her excellent technical
support and Alexandre Herpin, Jerome Larrigaldie and Ludovic Mercier for
animal breeding. We also thank Jean-Claude Beloeil and Valerie Quesniaux
for their continued support of the project. Research was supported in
part by grants from Fondation de France 015448, The FRAXA Research
Foundation (USA), FEDER Autism 35106, Fondation Lejeune, CNRS (Soutien
au transfert 04388-02), Region Centre, Regional Hospital of Orleans, the
University of Orleans and Project FP7 GENCODYS (no241995, to FL). W.C.
and S.P. were supported by grants from the March of Dimes
(12-FY05-1198), Conseil Regional d'Aquitaine, CNRS, and the University
of Bordeaux 1 to W.C.
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NR 56
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1750-1172
J9 ORPHANET J RARE DIS
JI Orphanet J. Rare Dis.
PD AUG 1
PY 2014
VL 9
AR 124
DI 10.1186/s13023-014-0124-6
PG 10
WC Genetics & Heredity; Medicine, Research & Experimental
SC Genetics & Heredity; Research & Experimental Medicine
GA AP0FC
UT WOS:000341735700001
PM 25079250
ER
PT J
AU Lancioni, GE
Singh, NN
O'Reilly, MF
Sigafoos, J
Boccasini, A
La Martire, ML
Lang, R
AF Lancioni, Giulio E.
Singh, Nirbhay N.
O'Reilly, Mark F.
Sigafoos, Jeff
Boccasini, Adele
La Martire, Maria L.
Lang, Russell
TI CASE STUDIES OF TECHNOLOGY FOR ADULTS WITH MULTIPLE DISABILITIES TO MAKE
TELEPHONE CALLS INDEPENDENTLY
SO PERCEPTUAL AND MOTOR SKILLS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; ASSISTIVE
TECHNOLOGY; SOCIAL VALIDATION; BRAIN-INJURY; YOUNG-ADULTS;
COMMUNICATION; INDIVIDUALS; COMPUTER; SYSTEM
AB Recent literature has shown the possibility of enabling individuals with multiple disabilities to make telephone calls independently via computer-aided telephone technology. These two case studies assessed a modified version of such technology and a commercial alternative to it for a woman and a man with multiple disabilities, respectively. The modified version used in Study 1 (a) presented the names of the persons available for a call and (b) reminded the participant of the response she needed to perform (i.e., pressing a microswitch) if she wanted to call any of those names/persons. The commercial device used in Study 2 was a Galaxy S3 (Samsung) equipped with the S-voice module, which allowed the participant to activate phone calls by uttering the word "Call" followed by the name of the persons he wanted to call. The results of the studies showed that the participants learned to make phone calls independently using the technology/device available. Implications of the results are discussed.
C1 [Lancioni, Giulio E.] Univ Bari, I-70100 Bari, Italy.
[Singh, Nirbhay N.] Georgia Regents Univ, Med Coll Georgia, Augusta, GA USA.
[O'Reilly, Mark F.] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Boccasini, Adele; La Martire, Maria L.] Lega F DOro Res Ctr, Osimo, Italy.
[Boccasini, Adele; La Martire, Maria L.] Lega F DOro Res Ctr, Molfetta, Italy.
[Lang, Russell] Texas State Univ San Marcos, San Marcos, TX USA.
RP Lancioni, GE (reprint author), Univ Bari, Dept Neurosci & Sense Organs, Via Quintino Sella 268, I-70100 Bari, Italy.
EM giulio.lancioni@uniba.it
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NR 44
TC 0
Z9 0
PU AMMONS SCIENTIFIC, LTD
PI MISSOULA
PA PO BOX 9229, MISSOULA, MT 59807-9229 USA
SN 0031-5125
J9 PERCEPT MOTOR SKILL
JI Percept. Mot. Skills
PD AUG
PY 2014
VL 119
IS 1
BP 320
EP 331
DI 10.2466/15.PMS.119c14z4
PG 12
WC Psychology, Experimental
SC Psychology
GA AO7GV
UT WOS:000341521400028
PM 25153758
ER
PT J
AU Honti, F
Meader, S
Webber, C
AF Honti, Frantisek
Meader, Stephen
Webber, Caleb
TI Unbiased Functional Clustering of Gene Variants with a
Phenotypic-Linkage Network
SO PLOS COMPUTATIONAL BIOLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; SEMANTIC SIMILARITY; INTELLECTUAL DISABILITY;
COMPREHENSIVE RESOURCE; EXPRESSION PATTERNS; DISEASE GENES; DATABASE;
AUTISM; MOUSE; ONTOLOGY
AB Groupwise functional analysis of gene variants is becoming standard in next-generation sequencing studies. As the function of many genes is unknown and their classification to pathways is scant, functional associations between genes are often inferred from large-scale omics data. Such data types-including protein-protein interactions and gene co-expression networks-are used to examine the interrelations of the implicated genes. Statistical significance is assessed by comparing the interconnectedness of the mutated genes with that of random gene sets. However, interconnectedness can be affected by confounding bias, potentially resulting in false positive findings. We show that genes implicated through de novo sequence variants are biased in their coding-sequence length and longer genes tend to cluster together, which leads to exaggerated p-values in functional studies; we present here an integrative method that addresses these bias. To discern molecular pathways relevant to complex disease, we have inferred functional associations between human genes from diverse data types and assessed them with a novel phenotype-based method. Examining the functional association between de novo gene variants, we control for the heretofore unexplored confounding bias in coding-sequence length. We test different data types and networks and find that the disease-associated genes cluster more significantly in an integrated phenotypic-linkage network than in other gene networks. We present a tool of superior power to identify functional associations among genes mutated in the same disease even after accounting for significant sequencing study bias and demonstrate the suitability of this method to functionally cluster variant genes underlying polygenic disorders.
C1 [Honti, Frantisek; Meader, Stephen; Webber, Caleb] Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England.
RP Honti, F (reprint author), Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England.
EM caleb.webber@dpag.ox.ac.uk
FU Medical Research Council, UK under the EU [241995]
FX This work was funded by the Medical Research Council, UK, under the EU
7th Framework Programme, project GENCODYS (grant no. 241995). The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 45
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-734X
EI 1553-7358
J9 PLOS COMPUT BIOL
JI PLoS Comput. Biol.
PD AUG
PY 2014
VL 10
IS 8
AR e1003815
DI 10.1371/journal.pcbi.1003815
PG 7
WC Biochemical Research Methods; Mathematical & Computational Biology
SC Biochemistry & Molecular Biology; Mathematical & Computational Biology
GA AO8AE
UT WOS:000341573600050
PM 25166029
ER
PT J
AU Sondenaa, E
Helverschou, SB
Steindal, K
Rasmussen, K
Nilson, B
Nottestad, JA
AF Sondenaa, Erik
Helverschou, Sissel Berge
Steindal, Kari
Rasmussen, Kirsten
Nilson, Britta
Nottestad, Jim Aage
TI VIOLENCE AND SEXUAL OFFENDING BEHAVIOR IN PEOPLE WITH AUTISM SPECTRUM
DISORDER WHO HAVE UNDERGONE A PSYCHIATRIC FORENSIC EXAMINATION
SO PSYCHOLOGICAL REPORTS
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGERS-SYNDROME; CRIMINAL
BEHAVIOR; PREVALENCE; PERSONALITY; JUVENILE; DEFICITS; SAMPLE; CRIME;
RISK
AB The increased awareness of Autism Spectrum Disorders (ASD) over the last few decades as well as the potential association between ASD and off ending behaviors has spurred a need for increased research in this area. In order to explore any possible relationship between ASD and violent or sexual crime the present study examines all forensic examination reports over a 10-yr. period in Norway where the charged persons were diagnosed with ASD and charged with either a violent (N = 21) or a sexual (N = 12) offense. Differences between these two groups regarding previous contact with child welfare and confessions to the offense were found. There was also a tendency toward more severe mental health problems and less intellectual problems among the violent off enders than the sexual off enders.
C1 [Sondenaa, Erik] St Olavs Hosp, N-7440 Trondheim, Norway.
[Sondenaa, Erik] Univ Coll Sor Trondelag, Trondheim, Norway.
[Helverschou, Sissel Berge; Steindal, Kari; Nilson, Britta] Oslo Univ Hosp, Natl Autism Unit, Oslo, Norway.
[Rasmussen, Kirsten] St Olavs Hosp, Trondheim, Norway.
[Rasmussen, Kirsten; Nottestad, Jim Aage] NTNU Inst Psychol, Trondheim, Norway.
[Sondenaa, Erik; Nottestad, Jim Aage] St Olavs Hosp, Dep Broset, N-7440 Trondheim, Norway.
RP Sondenaa, E (reprint author), St Olavs Hosp, Dep Broset, Postbox 1803, N-7440 Trondheim, Norway.
EM erik.sondenaa@ntnu.no
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NR 42
TC 0
Z9 0
PU AMMONS SCIENTIFIC, LTD
PI MISSOULA
PA PO BOX 9229, MISSOULA, MT 59807-9229 USA
SN 0033-2941
J9 PSYCHOL REP
JI Psychol. Rep.
PD AUG
PY 2014
VL 115
IS 1
BP 32
EP 43
DI 10.2466/16.15.PR0.115c16z5
PG 12
WC Psychology, Multidisciplinary
SC Psychology
GA AO7HB
UT WOS:000341522100005
PM 25073065
ER
PT J
AU Cafferkey, M
Ahn, JW
Flinter, F
Ogilvie, C
AF Cafferkey, Michiala
Ahn, Joo Wook
Flinter, Frances
Ogilvie, Caroline
TI Phenotypic Features in Patients With 15q11.2(BP1-BP2) Deletion: Further
Delineation of an Emerging Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 15q11.2(BP1-BP2) deletion; array CGH; CNV; NIPA1
ID PRADER-WILLI-SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION;
GLOBUS-PALLIDUS DYSFUNCTION; COPY NUMBER VARIATION; TEST IN-PLACE;
DEVELOPMENTAL DELAY; RECURRENT MICRODELETIONS; ANGELMAN-SYNDROME;
CRITICAL REGION; ARRAY CGH
AB 15q11.2 deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including intellectual disability, speech and language delay, motor delay, autism spectrum disorders, epilepsy, and schizophrenia. Array CGH analysis of 14,605 patients referred for diagnostic cytogenetic testing found that 83 patients (0.57%) carried the 15q11.2(BP1-BP2) deletion. Phenotypic frequencies in the deleted cohort (n = 83) were compared with frequencies in the non-deleted cohort (n = 14,522); developmental delay, motor delay, and speech and language delay were all more prevalent in the deleted cohort. Notably, motor delay was significantly more common (OR = 6.37). These data indicate that developmental delay, motor delay, and speech and language delay are common clinical features associated with this deletion, providing substantial evidence to support this CNV as a susceptibility locus for a spectrum of neurodevelopmental disorders. (C) 2014 Wiley Periodicals, Inc.
C1 [Cafferkey, Michiala; Flinter, Frances; Ogilvie, Caroline] Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England.
[Ahn, Joo Wook; Flinter, Frances; Ogilvie, Caroline] Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England.
RP Ogilvie, C (reprint author), Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, 5th Floor,Tower Wing,St Thomas St, London SE1 9RT, England.
EM caroline.ogilvie@genetics.kcl.ac.uk
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NR 40
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 1916
EP 1922
DI 10.1002/ajmg.a.36554
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900052
PM 24715682
ER
PT J
AU Mignon-Ravix, C
Cacciagli, P
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Philip, N
Villard, L
AF Mignon-Ravix, Cecile
Cacciagli, Pierre
Choucair, Nancy
Popovici, Cornel
Missirian, Chantal
Milh, Mathieu
Megarbane, Andre
Busa, Tiffany
Julia, Sophie
Girard, Nadine
Badens, Catherine
Sigaudy, Sabine
Philip, Nicole
Villard, Laurent
TI Intragenic Rearrangements in X-Linked Intellectual Deficiency: Results
of a-CGH in a Series of 54 Patients and Identification of TRPC5 and
KLHL15 As Potential XLID Genes
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE X-linked intellectual disability; array CGH; TRPC5; KLHL15
ID NONSPECIFIC MENTAL-RETARDATION; CEREBELLAR HYPOPLASIA; XLMR GENES;
DISABILITY; DELETION; CHANNEL; FAMILY; OPHN1; MUTATION; GROWTH
AB High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation(XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution. The majority of patients had whole genome array-CGH prior to the selection and we did not include large rearrangements such as MECP2 and FMR1 duplications. We identified four rearrangements considered as causative or potentially pathogenic, corresponding to a detection rate of 8%. Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions). Two new CNVs were considered as potentially pathogenic as they affected interesting candidates for ID. The first CNV is a deletion of the first exon of the TRPC5 gene, encoding a cation channel implicated in dendrite growth and patterning, in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, in a patient with severe ID, epilepsy, and anomalies of cortical development. In both cases, in spite of strong arguments for clinical relevance, we were not able at this stage to confirm pathogenicity of the mutations, and the causality of the variants identified in XLID remains to be confirmed. (C) 2014 Wiley Periodicals, Inc.
C1 [Mignon-Ravix, Cecile; Cacciagli, Pierre; Choucair, Nancy; Milh, Mathieu; Megarbane, Andre; Badens, Catherine; Philip, Nicole; Villard, Laurent] INSERM, UMR S 910, F-13258 Marseille, France.
[Mignon-Ravix, Cecile; Cacciagli, Pierre; Choucair, Nancy; Milh, Mathieu; Megarbane, Andre; Girard, Nadine; Badens, Catherine; Philip, Nicole; Villard, Laurent] Aix Marseille Univ, GMGF, Marseille, France.
[Cacciagli, Pierre; Popovici, Cornel; Missirian, Chantal; Busa, Tiffany; Badens, Catherine; Sigaudy, Sabine; Philip, Nicole] Hop Enfants La Timone, Dept Genet Med & Biol Cellulaire, Marseille, France.
[Choucair, Nancy; Megarbane, Andre] Univ St Joseph, Unite Genet Med, Beirut, Lebanon.
[Choucair, Nancy; Megarbane, Andre] Univ St Joseph, Lab Associe INSERM, Unite UMR S 910, Pole Technol Sante, Beirut, Lebanon.
[Milh, Mathieu] Hop Enfants La Timone, Serv Neurol Pediat, Marseille, France.
[Julia, Sophie] Hop Purpan, Serv Genet Med, Toulouse, France.
[Girard, Nadine] Hop Enfants La Timone, Serv Neuroradiol, Marseille, France.
RP Villard, L (reprint author), Fac Med La Timone, Inserm UMR S 910, 27 Bd Jean Moulin, F-13385 Marseille 5, France.
EM laurent.villard@univ-amu.fr
RI POPOVICI, Cornel/A-2027-2009
OI POPOVICI, Cornel/0000-0001-8226-3127
FU INSERM; Aix Marseille University
FX Grant sponsor: INSERM; Grant sponsor: Aix Marseille University.
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 1991
EP 1997
DI 10.1002/ajmg.a.36602
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900061
PM 24817631
ER
PT J
AU Filges, I
Sparagana, S
Sargent, M
Selby, K
Schlade-Bartusiak, K
Lueder, GT
Robichaux-Viehoever, A
Schlaggar, BL
Shimony, JS
Shinawi, M
AF Filges, Isabel
Sparagana, Steven
Sargent, Michael
Selby, Kathryn
Schlade-Bartusiak, Kamilla
Lueder, Gregg T.
Robichaux-Viehoever, Amy
Schlaggar, Bradley L.
Shimony, Joshua S.
Shinawi, Marwan
TI Brain MRI Abnormalities and Spectrum of Neurological and Clinical
Findings in Three Patients With Proximal 16p11.2 Microduplication
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 16p11.2; microduplication; T2-hyperintensity; MRI; neurological
ID CHROMOSOME 16P11.2; AUTISM; PHENOTYPES; DISORDERS; REARRANGEMENTS;
MICRODELETION; EXPRESSION; DELETIONS; DOSAGE
AB The phenotype of recurrent similar to 600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2 rearrangements, but no systematic correlation has been studied among patients with similar brain anomalies, their neurodevelopmental and clinical phenotypes. We present three patients with the proximal 16p11.2 microduplication exhibiting significant developmental delay, anxiety disorder and other variable clinical features. Our patients have abnormal brain MRI findings of cerebral T2 hyperintense foci (3/3) and ventriculomegaly (2/3). The neuro-radiological or neurological findings in two cases prompted an extensive diagnostic work-up. One patient has exhibited neurological regression and progressive vision impairment and was diagnosed with juvenile neuronal ceroid-lipofuscinosis. We compare the clinical course and phenotype of these patients in regard to the clinical significance of the cerebral lesions and the need for MRI surveillance. We conclude that in all three patients the lesions were not progressive, did not show any sign of malignant transformation and could not be correlated to specific clinical features. We discuss potential etiologic mechanisms that may include overexpression of genes within the duplicated region involved in control of cell proliferation and complex molecular mechanisms such as the MAPK/ERK pathway. Systematic studies in larger cohorts are needed to confirm our observation and to establish the prevalence and clinical significance of these neuroanatomical abnormalities in patients with 16p11.2 duplications. (C) 2014 Wiley Periodicals, Inc.
C1 [Filges, Isabel] Univ British Columbia, Dept Med Genet, BC Childrens & Womens Hosp, Child & Family Res Inst, Vancouver, BC, Canada.
[Filges, Isabel] Univ Basel Hosp, Dept Biomed, Div Med Genet, CH-4031 Basel, Switzerland.
[Sparagana, Steven] Texas Scottish Rite Hosp Children, Dept Pediat Neurol, Dallas, TX 75219 USA.
[Sargent, Michael] Univ British Columbia, Dept Radiol, Vancouver, BC, Canada.
[Selby, Kathryn] Univ British Columbia, Dept Pediat, Div Pediat Neurol, Vancouver, BC V6T 1W5, Canada.
[Schlade-Bartusiak, Kamilla] Univ British Columbia, Dept Pathol & Lab Med, Child & Family Res Inst, Vancouver, BC V5Z 1M9, Canada.
[Lueder, Gregg T.] Washington Univ, Sch Med, Dept Ophthalmol & Visual Sci, St Louis, MO 63110 USA.
[Lueder, Gregg T.] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA.
[Robichaux-Viehoever, Amy; Schlaggar, Bradley L.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Shimony, Joshua S.] Washington Univ, Sch Med, Edward Mallinckrodt Inst Radiol, St Louis, MO 63110 USA.
[Shinawi, Marwan] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA.
RP Filges, I (reprint author), BC Childrens & Womens Hosp, Dept Med Genet, Box 153,4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM Isabel.Filges@unibas.ch
FU Swiss Foundation for Grants in Biology; Medicine/Swiss National Science
Foundation (SFGBM/SNSF); Freie Akademische Gesellschaft (FAG) Basel
FX Grant sponsor: Swiss Foundation for Grants in Biology; Grant sponsor:
Medicine/Swiss National Science Foundation (SFGBM/SNSF); Grant sponsor:
Freie Akademische Gesellschaft (FAG) Basel.
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD AUG
PY 2014
VL 164A
IS 8
BP 2003
EP 2012
DI 10.1002/ajmg.a.36605
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AN5YD
UT WOS:000340667900063
PM 24891046
ER
PT J
AU Joosten, AV
Safe, AP
AF Joosten, Annette V.
Safe, Anneleise P.
TI Management strategies of mothers of school-age children with autism:
Implications for practice
SO AUSTRALIAN OCCUPATIONAL THERAPY JOURNAL
LA English
DT Article
DE autism spectrum disorder; family-centred practice; mothers; research
related; self management; wellbeing
ID SELF-MANAGEMENT; CHRONIC ILLNESS; SOCIAL SUPPORT; MENTAL-HEALTH;
PARENTS; CARE; STRESS; IMPACT; PROFESSIONALS; PERSPECTIVES
AB Background/aim: Mothering children with autism results in mothers spending more time on daily tasks as well as managing the disorder. The need for mothers to self-manage often increases when the child is school aged. Mothers develop strategies, and occupational therapists and other health professional rely on or expect mothers to be involved in meeting the extra needs of their children with autism and other family members. Little is known about the strategies adopted by the mothers. The aim of this study was to explore the strategies mothers used to manage their roles and emotions, and their child's behaviours.
Method: In-depth individual interviews were conducted with seven mothers and data were analysed in this qualitative study using phenomenological analysis.
Results: Findings revealed that the mothers had adopted strategies to manage their roles, their emotions and their child's behaviour. However, the strategies were often shaped by the expectations of others or circumstances beyond their control and at times added further to their stress.
Conclusions: Mothers of children with autism developed strategies to self-manage their lives and their child's disorder. However, even when these strategies were effective, they sometimes placed further stress on the mothers. The mothers provided insights to how they coped but need help to consider the support they require and therapists need to consider the pressures of expecting mothers to self-manage their child's disorder, their own lives and their family. Family-centred practice emphasising collaboration with mothers needs to be maintained with school-aged children.
C1 [Joosten, Annette V.] Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6102, Australia.
[Safe, Anneleise P.] Ctr Cerebral Palsy, Therapy Serv, Perth, WA, Australia.
RP Joosten, AV (reprint author), Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6102, Australia.
EM a.joosten@curtin.edu.au
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NR 41
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0045-0766
EI 1440-1630
J9 AUST OCCUP THER J
JI Aust. Occup. Ther. J.
PD AUG
PY 2014
VL 61
IS 4
BP 249
EP 258
DI 10.1111/1440-1630.12116
PG 10
WC Rehabilitation
SC Rehabilitation
GA AO1UF
UT WOS:000341099700006
PM 24499184
ER
PT J
AU Geurts, HM
van den Bergh, SFWM
Ruzzano, L
AF Geurts, Hilde M.
van den Bergh, Sanne F. W. M.
Ruzzano, Laura
TI Prepotent Response Inhibition and Interference Control in Autism
Spectrum Disorders: Two Meta-Analyses
SO AUTISM RESEARCH
LA English
DT Article
DE ASD; autism; inhibition; interference; cognitive control; meta-analysis
ID HIGH-FUNCTIONING AUTISM; DEFICIT HYPERACTIVITY DISORDER; LATENT-VARIABLE
ANALYSIS; CHOICE REACTION-TIME; COGNITIVE CONTROL; EXECUTIVE FUNCTION;
NEURODEVELOPMENTAL DISORDERS; IMPAIRED COGNITION; WORKING-MEMORY;
STOP-SIGNAL
AB There is a substantial amount of data providing evidence for, but also against the hypothesis that individuals with autism spectrum disorders (ASD) encounter inhibitory control deficits. ASD is often associated with interference control deficits rather than prepotent response inhibition. Moreover, the developmental trajectory for these inhibitory control processes is hypothesized to differ in ASD as compared to typical development. In efforts to gain a more comprehensive perspective of inhibition in ASD, separate quantitative analysis for prepotent response inhibition studies and interference control studies were conducted. Together, these two meta-analyses included 41 studies with a combined sample size of 1,091 people with ASD (M age 14.8 years), and 1,306 typically developing (TD) controls (M age 13.8 years). The meta-analyses indicated that individuals with ASD show increased difficulties in prepotent response inhibition (effect size 0.55) and in interference control (effect size 0.31). In addition, age was a relevant moderator for prepotent response inhibition but not for interference control. Exploratory analyses revealed that when IQ was taken into account, heterogeneity considerably decreased among interference control studies but not among prepotent response inhibition. In contrast to the general belief, both prepotent response inhibition and interference control problems were observed in individuals with ASD. However, a large variation between studies was also found. Therefore, there remain factors beyond inhibition type, age, or IQ that significantly influence inhibitory control performance among individuals with ASD. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Geurts, Hilde M.] Univ Amsterdam, Dept Psychol Brain & Cognit, NL-1018 XA Amsterdam, Netherlands.
[Geurts, Hilde M.; van den Bergh, Sanne F. W. M.; Ruzzano, Laura] Dr Leo Kannerhuis, Res & Dev, Ctr Autism, Amsterdam, Netherlands.
[Geurts, Hilde M.; van den Bergh, Sanne F. W. M.; Ruzzano, Laura] Dutch Autism & ADHD Res Ctr Arc, Amsterdam, Netherlands.
[Geurts, Hilde M.] Univ Amsterdam, Cognit Sci Ctr Amsterdam, NL-1018 XA Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Univ Amsterdam, Dept Psychol, Dutch Autism & ADHD Res Ctr ARC, Weesperpl 4, NL-1018 XA Amsterdam, Netherlands.
EM H.M.Geurts@uva.nl
FU VIDI grant, Netherlands Organization for Scientific Research (NWO)
[452-10-003]
FX This work is part of the research program "Autism and Aging: A Double
Jeopardy, which is financed (VIDI grant number 452-10-003) by the
Netherlands Organization for Scientific Research (NWO). Dr. Geurts,
M.Sc. van den Bergh, and M.Sc. Ruzzano reported no biomedical financial
interests or potential conflicts of interest.
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NR 86
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 407
EP 420
DI 10.1002/aur.1369
PG 14
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300001
PM 24596300
ER
PT J
AU Sparaci, L
Stefanini, S
D'Elia, L
Vicari, S
Rizzolatti, G
AF Sparaci, Laura
Stefanini, Silvia
D'Elia, Lidia
Vicari, Stefano
Rizzolatti, Giacomo
TI What and Why Understanding in Autism Spectrum Disorders and Williams
Syndrome: Similarities and Differences
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; Williams syndrome; social cognition; motor
skills
ID YOUNG-CHILDREN; NEURAL BASIS; MOTOR; INFANTS; HYPERSOCIABILITY;
INTENTIONS; DEFICIT; BRAIN; PERCEPTION; MECHANISMS
AB Children with autism spectrum disorders (ASD) and children with Williams syndrome (WS) show divergent social phenotypes, but also several similarities in their socio-cognitive deficits. Cross-syndrome direct comparisons could lead to a better understanding of mechanisms that determine deficits in social cognition in the two syndromes. A fundamental factor for social cognition is the ability to understand and predict others' actions (e. g. what action is being done and why it is being done when observing a goal-related act). Here we compared the understanding of others' actions in children with ASD, WS and in children with typical development. Comprehension of what motor act was being done and of why it was being done was assessed with or without contextual cueing using a computer-based task. The results showed that what understanding was impaired in the WS group, but not in the ASD group, which showed mental-age appropriate performance. Why understanding was impaired in both experimental groups. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Sparaci, Laura; Stefanini, Silvia; Rizzolatti, Giacomo] Univ Parma, Dept Neurosci, I-43100 Parma, Italy.
[Sparaci, Laura] Natl Res Council CNR Italy, Inst Cognit Sci & Technol ISTC, I-00161 Rome, Italy.
[Sparaci, Laura; D'Elia, Lidia; Vicari, Stefano] Bambino Gesu Childrens Hosp IRCCS, Rome, Italy.
[Stefanini, Silvia] Local Hlth Unit AUSL, Dept Mental Hlth, Parma, Italy.
[Rizzolatti, Giacomo] Italian Inst Technol, Parma Unit, Brain Ctr Social & Motor Cognit, Parma, Italy.
RP Sparaci, L (reprint author), Natl Res Council CNR Italy, Inst Cognit Sci & Technol ISTC, Via Nomentana 56, I-00161 Rome, Italy.
EM laura.sparaci@istc.cnr.it
FU Fondazione Monte Parma; ERC Advanced Grant "Cogsystems" [250013];
Fondazione Handicap Dopodinoi, Onlus; MIUR-FIRB TOUM project
[RBFR086HEW]
FX The work reported in this paper was supported by: Fondazione Monte Parma
and ERC Advanced Grant "Cogsystems" (no. 250013) to G. R.; Fondazione
Handicap Dopodinoi, Onlus to S. V.; MIUR-FIRB TOUM project (no.
RBFR086HEW) to L. S. We are very grateful to the Italian Williams
Syndrome Association (AISW) as well as to the Primary and Secondary
Schools San Vitale-Fra' Salimbene Parma and San Francesco D'Assisi Rome
for helping us in this study. We wish to thank Dr Patrizio Pasqualetti
and Dr Pasquale Rinaldi for their help with statistical analyses. In
particular, we wish to thank all the children and families who have
participated in this research.
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NR 55
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 421
EP 432
DI 10.1002/aur.1370
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300002
PM 24604708
ER
PT J
AU Warner, G
Moss, J
Smith, P
Howlin, P
AF Warner, Georgina
Moss, Joanna
Smith, Patrick
Howlin, Patricia
TI Autism Characteristics and Behavioural Disturbances in similar to 500
Children with Down's Syndrome in England and Wales
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; Down's syndrome; social communication
questionnaire; strengths and difficulties questionnaire
ID FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; DIFFICULTIES QUESTIONNAIRE;
PREVALENCE; DIAGNOSIS; STRENGTHS; CHECKLIST; VALIDITY; PROJECT
AB Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score >= 15) was 37.7% (95% CI: 33.4-42.0%); for autism (total score >= 22) the proportion was 16.5% (95% CI: 13.2-19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score < 10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Warner, Georgina; Smith, Patrick; Howlin, Patricia] Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
[Moss, Joanna] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England.
[Moss, Joanna] UCL, Inst Cognit Neurosci, London, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2006, Australia.
RP Warner, G (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
EM georgina.warner@kcl.ac.uk
RI Moss, Jo/C-8812-2009
FU Baily Thomas Research Trust
FX We are grateful to the UK Down's Syndrome Association, and particularly
to Stuart Mills, for their help with participant recruitment, and to
Ellie Walsh and Jennie Cox for their help with the survey distribution,
as well as to all the families who participated in the study. This study
was funded by a PhD studentship from the Baily Thomas Research Trust.
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NR 33
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 433
EP 441
DI 10.1002/aur.1371
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300003
PM 24664986
ER
PT J
AU Murphy, JW
Foxe, JJ
Peters, JB
Molholm, S
AF Murphy, Jeremy W.
Foxe, John J.
Peters, Joanna B.
Molholm, Sophie
TI Susceptibility to Distraction in Autism Spectrum Disorder: Probing the
Integrity of Oscillatory Alpha-Band Suppression Mechanisms
SO AUTISM RESEARCH
LA English
DT Article
DE autism; EEG; oscillations; attention
ID SELECTIVE VISUAL-ATTENTION; EVENT-RELATED POTENTIALS; SPATIAL ATTENTION;
VISUOSPATIAL ATTENTION; INNER SPEECH; FUNCTIONAL CONNECTIVITY; CORTICAL
CONNECTIVITY; OCCIPITAL CORTEX; CHILDREN; EEG
AB When attention is directed to one information stream over another, the brain can be configured in advance to selectively process the relevant stream and suppress potentially distracting inputs. One key mechanism of suppression is through the deployment of anticipatory alpha-band (similar to 10 Hz) oscillatory activity, with greater alpha-band power observed in cortical regions that will ultimately process the distracting stream. Atypical attention has been implicated in autism spectrum disorder (ASD), including greater interference by distracting task-irrelevant inputs. Here we tested the integrity of these alpha-band mechanisms in ASD using an intersensory attention task. Electroencephalography (EEG) was recorded while participants were cued on a trial-by-trial basis to selectively deploy attention to the visual or auditory modality in anticipation of a target within the cued modality. Whereas typically developing (TD) children showed the predicted alpha-band modulation, with increased alpha-band power over parieto-occipital scalp when attention was deployed to the auditory compared with the visual modality, this differential pattern was entirely absent at the group level in the ASD cohort. Further, only the ASD group showed impaired performance due to the presence of task-irrelevant sensory information. These data suggest that impaired modulation of alpha-band activity plays a role in increased distraction from extraneous sensory inputs in ASD. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Murphy, Jeremy W.; Foxe, John J.; Peters, Joanna B.; Molholm, Sophie] Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, Childrens Evaluat & Rehabil Ctr, Dept Pediat, Bronx, NY 10461 USA.
[Murphy, Jeremy W.; Foxe, John J.; Peters, Joanna B.; Molholm, Sophie] Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10461 USA.
[Murphy, Jeremy W.; Foxe, John J.; Molholm, Sophie] CUNY City Coll, Dept Psychol, Program Cognit Neurosci, New York, NY 10031 USA.
[Murphy, Jeremy W.; Foxe, John J.; Molholm, Sophie] CUNY City Coll, Dept Biol, Program Cognit Neurosci, New York, NY 10031 USA.
[Peters, Joanna B.] Yeshiva Univ, Ferkauf Grad Sch Psychol, Program Clin Psychol, Bronx, NY USA.
RP Molholm, S (reprint author), Albert Einstein Coll Med, Sheryl & Daniel R Tishman Cognit Neurophysiol Lab, Childrens Evaluat & Rehabil Ctr, Dept Pediat, Van Etten Bldg,Wing 1C,1225 Morris Pk Ave, Bronx, NY 10461 USA.
EM sophie.molholm@einstein.yu.edu
FU U.S. National Institute of Mental Health [MH085322]; Eunice Kennedy
Shriver National Institute of Child Health & Human Development [NICHD
P30 HD071593]
FX Primary funding for this work was provided by a grant from the U.S.
National Institute of Mental Health (MH085322 to S. M and J.J.F). The
Human Clinical Phenotyping Core, where the children enrolled in this
study were clinically evaluated, is a facility of the Rose F. Kennedy
Intellectual and Developmental Disabilities Research Center (IDDRC)
which is funded through a center grant from the Eunice Kennedy Shriver
National Institute of Child Health & Human Development (NICHD P30
HD071593).
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NR 83
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 442
EP 458
DI 10.1002/aur.1374
PG 17
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300004
PM 24678054
ER
PT J
AU Smith, RM
Banks, W
Hansen, E
Sadee, W
Herman, GE
AF Smith, Ryan M.
Banks, Wesley
Hansen, Emily
Sadee, Wolfgang
Herman, Gail E.
TI Family-Based Clinical Associations and Functional Characterization of
the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism; serotonin; gene expression; HTR2A; rs6311; monoamine
ID DIAGNOSTIC OBSERVATION SCHEDULE; GENOME-WIDE ASSOCIATION; COPY NUMBER
VARIATION; DE-NOVO MUTATIONS; 5-HT2A RECEPTOR; SYNAPTIC PATHOPHYSIOLOGY;
MESSENGER-RNA; COMMON; CHILDREN; POLYMORPHISMS
AB The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor "A" allele of rs6311 to offspring with ASD (permuted P = 0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5' untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5' UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Smith, Ryan M.; Sadee, Wolfgang] Ohio State Univ, Dept Pharmacol, Coll Med, Ctr Pharmacogen, Columbus, OH 43210 USA.
[Banks, Wesley; Hansen, Emily; Herman, Gail E.] Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Ctr Mol & Human Genet, Columbus, OH 43210 USA.
[Banks, Wesley; Hansen, Emily; Herman, Gail E.] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Pharm, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Human Genet Internal Med, Columbus, OH 43210 USA.
[Sadee, Wolfgang] Ohio State Univ, Dept Environm Hlth Sci, Columbus, OH 43210 USA.
RP Smith, RM (reprint author), Ohio State Univ, Dept Pharmacol, 5184A Graves Hall,333 W10th Ave, Columbus, OH 43210 USA.
EM Ryan.Smith2@osumc.edu
FU National Institute of General Medical Sciences [U01GM092655]; United
States Air Force Department of Defense [FA7014-09-2-0004,
FA8650-12-2-6359]
FX The authors declare no competing interests. This work was supported by
the National Institute of General Medical Sciences (U01GM092655 to W.
S.) and the United States Air Force Department of Defense
(FA7014-09-2-0004 and FA8650-12-2-6359 to Gail E. Herman). We are
grateful to all the families participating in the CORA registry. We
thankfully acknowledge Harvard Brain Tissue Resource Center and the
NICHD Brain and Tissue Bank for providing brain tissues, granted to Ryan
M. Smith and Wolfgang Sadee from the Autism Tissue Program, made
possible by the donations of generous family members.
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NR 55
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 459
EP 467
DI 10.1002/aur.1383
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300005
PM 24753316
ER
PT J
AU McCormick, C
Hessl, D
Macari, SL
Ozonoff, S
Green, C
Rogers, SJ
AF McCormick, Carolyn
Hessl, David
Macari, Suzanne L.
Ozonoff, Sally
Green, Cherie
Rogers, Sally J.
TI Electrodermal and Behavioral Responses of Children With Autism Spectrum
Disorders to Sensory and Repetitive Stimuli
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; psychophysiology; sensory; repetitive
behaviors
ID DEVELOPMENTAL DELAYS; YOUNG-CHILDREN; MISSING DATA; INDIVIDUALS;
INTEGRATION; PATTERNS; MOTOR; AGE
AB Parents frequently report that their children with autism spectrum disorders (ASD) respond atypically to sensory stimuli. Repetitive behaviors are also part of the ASD behavioral profile. Abnormal physiological arousal may underlie both of these symptoms. Electrodermal activity (EDA) is an index of sympathetic nervous system arousal. The goals of this study were twofold: (1) to pilot methods for collecting EDA data in young children and (2) to examine hypothesized relationships among EDA, and sensory symptoms and repetitive behaviors in children with ASD as compared with children with typical development. EDA was recorded on 54 young children with ASD and on 33 children with typical development (TD) during a protocol that included baseline, exposure to sensory and repetitive stimuli, and play. Parents completed standardized questionnaires regarding their child's sensory symptoms and repetitive behaviors. Frequency and type of repetitive behavior during play was coded offline. Comparisons between EDA data for ASD and TD groups indicated no significant between-group differences in any measures. Parents of children with ASD reported more abnormal responses to sensory stimuli and more repetitive behaviors, but scores on these measures were not significantly correlated with EDA or with frequency of observed repetitive behaviors. Parent report of frequency and severity of sensory symptoms was significantly correlated with reports of repetitive behaviors in both groups. Although parents of children with ASD report high levels of sensory symptoms and repetitive behaviors, these differences are not related to measured EDA arousal or reactivity. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [McCormick, Carolyn; Hessl, David; Ozonoff, Sally; Rogers, Sally J.] Univ Calif Davis, MIND Inst, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Macari, Suzanne L.] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
[Green, Cherie] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
RP McCormick, C (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM carolyn.mccormick@ucdmc.ucdavis.edu
FU UC Davis MIND Institute
FX This research was conducted as part of the Autism Phenome Project and
supported by the UC Davis MIND Institute. We would like to acknowledge
Cynthia Zierhut, Lisa Cochran, Susan Rumberg, and Lou Ann Barnett for
their roles on the project, as well as Jennifer Bernstein and Olha
Kalish for help with coding. We want to thank all of the families who
made this research possible.
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NR 53
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 468
EP 480
DI 10.1002/aur.1382
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300006
PM 24788961
ER
PT J
AU Cook, R
Brewer, R
Shah, P
Bird, G
AF Cook, Richard
Brewer, Rebecca
Shah, Punit
Bird, Geoffrey
TI Intact Facial Adaptation in Autistic Adults
SO AUTISM RESEARCH
LA English
DT Article
DE autism; adaptation; aftereffects; facial identity; facial expressions
ID FACE RECOGNITION; SPECTRUM DISORDERS; CHILDREN; IDENTITY; EMOTION;
ALEXITHYMIA; EXPRESSIONS; PERCEPTION; FEATURES; 1ST
AB Adaptation paradigms seek to bias subsequently viewed stimuli through prolonged exposure to an adapting stimulus, thereby giving rise to an aftereffect. Recent experiments have found that children with autism spectrum disorders (ASD) show reduced facial aftereffects, prompting some researchers to speculate that all individuals with ASD exhibit deficient facial adaptation. However, caution is required when generalizing findings from samples of children with ASD to the wider ASD population. The reduced facial aftereffects seen in child samples may instead reflect delayed or atypical developmental trajectories, whereby individuals with ASD are slower to develop adaptive mechanisms. In the present study, two experiments were conducted to determine whether high-functioning adults with ASD also show diminished aftereffects for facial identity and expression. In Experiment 1, using a procedure that minimized the contribution of low-level retinotopic adaptation, we observed substantial aftereffects comparable to those seen in matched controls, for both facial identity and expression. A similar pattern of results was seen in Experiment 2 using a revised procedure that increased the contribution of retinotopic adaptation to the facial aftereffects observed. That adults with autism can show robust facial aftereffects raises the possibility that group differences are seen only at particular points during development, and may not be a lifelong feature of the condition. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Cook, Richard] City Univ London, Dept Psychol, London EC1R OJD, England.
[Brewer, Rebecca; Shah, Punit; Bird, Geoffrey] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC2R 2LS, England.
[Shah, Punit] Univ London, Birkbeck Coll, Dept Psychol Sci, London, England.
[Bird, Geoffrey] UCL, Inst Cognit Neurosci, London, England.
RP Cook, R (reprint author), City Univ London, Dept Psychol, Whiskin St, London EC1R OJD, England.
EM Richard.Cook.1@city.ac.uk
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NR 48
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 481
EP 490
DI 10.1002/aur.1381
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300007
PM 24757172
ER
PT J
AU Hauth, I
de Bruijn, YGE
Staal, W
Buitelaar, JK
Rommelse, NN
AF Hauth, Ingeborg
de Bruijn, Yvette G. E.
Staal, Wouter
Buitelaar, Jan K.
Rommelse, Nanda N.
TI Testing the Extreme Male Brain Theory of Autism Spectrum Disorder in a
Familial Design
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; extreme male brain theory; testosterone;
2D:4D; finger length; siblings; parents; empathizing; systemizing
ID 4TH DIGIT LENGTH; FETAL TESTOSTERONE; SEX-DIFFERENCES; DIAGNOSTIC
VALIDITY; RECEPTOR GENE; RATIO; CHILDREN; 2ND; TRAITS; HORMONE
AB Autism Spectrum Disorder (ASD) may be an extreme manifestation of some male-typical traits in both neuroanatomy and cognition. Using the ratio of the second to fourth digit (2D:4D) and digit length as biomarkers of (pre- and postnatal) testosterone levels, examined was whether hypermasculinized digit ratios and/or lengths were familial traits in ASD and investigated their relation to sexually dimorphic cognitive abilities. 2D: 4D ratios and digit lengths of 216 children with ASD, 202 unaffected siblings, and 360 parents were compared with those of 174 control children and their 146 parents. Generalized Estimation Equations, Generalized Linear Models, and Linear Mixed Models were used to investigate parent-offspring relationships and group differences. In ASD probands and their relatives alike, digit length relative to overall height was significantly increased in comparison to controls. No significant group differences were found between affected and unaffected subjects, or between males and females. Additionally, 2D: 4D ratios increased with age. No (consistent) associations were found between 2D: 4D ratio or digit lengths and systemizing and empathizing skills. The findings emphasize the role of familially based elevated pre- and postnatal testosterone levels in the liability for ASD, but challenge the use of 2D: 4D ratio as a proxy of prenatal testosterone exposure solely. Given that many genes influence digit length, the exact mechanisms underlying a familial predisposition toward increased digit length in ASD are as yet unknown and needs to be explored in future studies. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Hauth, Ingeborg; Staal, Wouter; Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain, Cognit & Behav Dept Cognit Neurosci, NL-6525 GC Nijmegen, Netherlands.
[de Bruijn, Yvette G. E.; Staal, Wouter; Buitelaar, Jan K.; Rommelse, Nanda N.] Child & Adolescent Psychiat Univ Ctr, Karakter, Nijmegen, Netherlands.
[Rommelse, Nanda N.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain, Cognit & Behav Dept Psychiat, NL-6525 GC Nijmegen, Netherlands.
RP Rommelse, NN (reprint author), Radboud Univ Nijmegen, Med Ctr, Reinier Postlaan 12, NL-6525 GC Nijmegen, Netherlands.
EM n.lambregts-rommelse@psy.umcn.nl
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NR 44
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 491
EP 500
DI 10.1002/aur.1384
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300008
PM 24777834
ER
PT J
AU Kang, V
Wagner, GC
Ming, X
AF Kang, Victor
Wagner, George C.
Ming, Xue
TI Gastrointestinal Dysfunction in Children With Autism Spectrum Disorders
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; gastrointestinal disorders; comorbid
disorders; endoscopy; colonoscopy; inflammation
ID SYMPTOMS; ABNORMALITIES; POPULATION; PREVALENCE; DISEASE; ASDS
AB Gastrointestinal (GI) dysfunctions are frequently reported by parents of children with autism spectrum disorders (ASD) and have been recently recognized as a comorbid condition. However, the clinical significance of these GI dysfunctions remains to be delineated. This study describes the clinical characteristics, associated comorbid disorders, and endoscopic and colonoscopic evaluation of GI dysfunction in a cohort of 164 children with ASD evaluated at a pediatric neurology practice. Symptoms of GI dysfunction were prevalent: 49% of the children reported one or more chronic GI complaints, 22% exhibited diarrhea, 26% suffered from constipation. Furthermore 13% of the parents reported their children to suffer from bloating and/or being gassy and while 10% of the parents reported vomiting or gastroesophageal reflux problems. Similar rates of GI symptoms were reported among pre-school and school-aged children. Inflammation of the gut was found in 6 of the 12 subjects who underwent endoscopic and colonoscopic evaluations, however clinical symptoms did not predict the results of the evaluation. GI dysfunction was significantly associated with sleep disorders and food intolerance, but not with irritability or aggressiveness. In summary, GI dysfunction was prevalent in this cohort of children with ASD, observations consistent with the reports of parents and other clinicians. We conclude that the GI dysfunction in ASD requires proper evaluation and treatment. (C) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Kang, Victor] Johns Hopkin Univ, Sch Arts & Sci, Baltimore, MD USA.
[Wagner, George C.] Rutgers State Univ, Dept Psychol, New Brunswick, NJ 08903 USA.
[Ming, Xue] Rutgers State Univ, New Jersey Med Sch, Dept Neurosci, Newark, NJ 07103 USA.
[Ming, Xue] JFK Med Ctr, New Jersey Neurosci Inst, Sleep Med Ctr, Edison, NJ USA.
RP Ming, X (reprint author), Rutgers State Univ, New Jersey Med Sch, 90 Bergen St,DOC 8100, Newark, NJ 07103 USA.
EM mingxu@njms.rutgers.edu
FU Knights of Columbus, East Hanover, NJ
FX The authors wish to acknowledge the cooperation of all the parents and
guardians of the participating subjects with ASD and the generous
support from Knights of Columbus, East Hanover, NJ. All authors declare
no conflict of interest in this study and approve this final version of
the revised manuscript.
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NR 19
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD AUG
PY 2014
VL 7
IS 4
BP 501
EP 506
DI 10.1002/aur.1386
PG 6
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AN5VJ
UT WOS:000340659300009
PM 24753336
ER
PT J
AU Blockus, H
Chedotal, A
AF Blockus, Heike
Chedotal, Alain
TI The multifaceted roles of Slits and Robos in cortical circuits: from
proliferation to axon guidance and neurological diseases
SO CURRENT OPINION IN NEUROBIOLOGY
LA English
DT Article
ID F-BAR DOMAIN; NEURONAL MIGRATION; INTERNEURON MIGRATION; THALAMIC
PROJECTIONS; MAMMALIAN FOREBRAIN; CORPUS-CALLOSUM; CEREBRAL-CORTEX;
MIDLINE; EXPRESSION; RECEPTORS
AB Slit repulsion, mediated by Robe receptors, is known to play a major role in axon guidance in the nervous system. However, recent studies have revealed that in the mammalian cortex these molecules are highly versatile and that their function extends far beyond axon guidance. They act at all phases of development to control neurogenesis, neuronal migration, axon patterning, dendritic outgrowth and spinogenesis. The expression of Robe receptors in cortical and thalamocortical axons (TCAs) is tightly regulated by a combination of transcription factors (TFs), proteases and activity. These findings also suggest that Slit and Robes have influenced the evolution of cortical circuits. Last, novel genetic evidence associates various neurological disorders, such as autism, to abnormal Slit/Robo signaling.
C1 [Blockus, Heike; Chedotal, Alain] INSERM, UMR S968, Inst Vis, F-75012 Paris, France.
[Blockus, Heike; Chedotal, Alain] Univ Paris 06, Sorbonne Univ, UMR S968, Inst Vis, F-75012 Paris, France.
[Blockus, Heike; Chedotal, Alain] CNRS, UMR7210, F-75012 Paris, France.
RP Chedotal, A (reprint author), INSERM, UMR S968, Inst Vis, F-75012 Paris, France.
EM alain.chedotal@inserm.fr
FU Fondation pour la recherche Medicale (Programme equipe FRM); Labex
Lifesciences; Ecole des Neurosciences de Paris Ile-de-France (ENP); DIM
Cerveau Pensee
FX A.C. is supported by grants from the Fondation pour la recherche
Medicale (Programme equipe FRM) and the Labex Lifesciences. H.B. is a
recipient of the ENP Graduate Program fellowship from Ecole des
Neurosciences de Paris Ile-de-France (ENP) and DIM Cerveau & Pensee.
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NR 47
TC 5
Z9 5
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-4388
EI 1873-6882
J9 CURR OPIN NEUROBIOL
JI Curr. Opin. Neurobiol.
PD AUG
PY 2014
VL 27
BP 82
EP 88
DI 10.1016/j.conb.2014.03.003
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AO3HN
UT WOS:000341220400013
PM 24698714
ER
PT J
AU Ackerman, S
Wenegrat, J
Rettew, D
Althoff, R
Bernier, R
AF Ackerman, Sean
Wenegrat, Julia
Rettew, David
Althoff, Robert
Bernier, Raphael
TI No increase in autism-associated genetic events in children conceived by
assisted reproduction
SO FERTILITY AND STERILITY
LA English
DT Article
DE Assisted reproduction; assisted reproductive technology; autism; copy
number variation
ID IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION;
LOW-BIRTH-WEIGHT; SPECTRUM DISORDERS; INCREASED RISK; HEALTH OUTCOMES;
PRETERM BIRTH; FOLLOW-UP; TECHNOLOGY; BORN
AB Objective: To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction.
Design: Case control study using genetics data.
Setting: Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection.
Patient(s): 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available.
Intervention(s): None.
Main Outcome Measure(s): Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally.
Result(s): No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction.
Conclusion(s): This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD. ((C)2014 by American Society for Reproductive Medicine.)
C1 [Ackerman, Sean; Rettew, David; Althoff, Robert] Univ Vermont, Sch Med, Dept Psychiat, Burlington, VT 05401 USA.
[Wenegrat, Julia; Bernier, Raphael] Univ Washington, Sch Med, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
RP Ackerman, S (reprint author), Univ Vermont, Fletcher Allen Hlth Care, 111 Colchester Ave,MS 341BA1, Burlington, VT 05401 USA.
EM sean.ackerman@vtmednet.org
FU Simons Foundation Autism Research Initiative
FX Funded by the Simons Foundation Autism Research Initiative.
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NR 44
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0015-0282
EI 1556-5653
J9 FERTIL STERIL
JI Fertil. Steril.
PD AUG
PY 2014
VL 102
IS 2
BP 388
EP 393
DI 10.1016/j.fertnstert.2014.04.020
PG 6
WC Obstetrics & Gynecology; Reproductive Biology
SC Obstetrics & Gynecology; Reproductive Biology
GA AO4HX
UT WOS:000341299000015
PM 24842673
ER
PT J
AU Batey, CA
Missiuna, CA
Timmons, BW
Hay, JA
Faught, BE
Cairney, J
AF Batey, C. A.
Missiuna, C. A.
Timmons, B. W.
Hay, J. A.
Faught, B. E.
Cairney, J.
TI Self-efficacy toward physical activity and the physical activity
behavior of children with and without Developmental Coordination
Disorder
SO HUMAN MOVEMENT SCIENCE
LA English
DT Article
DE Developmental Coordination Disorder; Self-efficacy; Physical activity;
Developmental disorders and autism
ID DEFICIT HYPERACTIVITY DISORDER; ACTIVITY ENERGY-EXPENDITURE; MOVEMENT
ASSESSMENT BATTERY; ADOLESCENTS; MOTOR; RISK; PERCEPTIONS; HYPOTHESIS;
CLUMSINESS; FITNESS
AB Purpose: Affecting 5-6% of children, Developmental Coordination Disorder (DCD) is a prevalent chronic condition. The nature of the disorder - impaired motor coordination - makes avoidance of physical activity (PA) common. The purpose of this study was to examine the effect of barrier and task self-efficacy on PA behavior in children with DCD and a group of typically developing (TD) children.
Methods: Children were compared on their perceived ability to complete different intensities and duration of PA (task efficacy) and their confidence in completing PA when faced with everyday barriers (barrier efficacy). An accelerometer was used to record their activity over the subsequent week.
Results: Children with DCD were found to have significantly lower task efficacy and barrier efficacy. They also spent significantly less time in moderate to vigorous physical activity (MVPA). Multivariate analyses revealed that gender modified the relationship for both groups. Separate multivariate regressions, were therefore conducted by gender. A direct effect of DCD on PA was observed for boys, but not for girls. Further analyses showed that neither task efficacy nor barrier efficacy influenced the relationship between DCD and PA.
Conclusion: Results from this study confirm that children with DCD have lower task and barrier self-efficacy than TD children and that males have lower PA levels than their TD peers; however neither task or barrier self-efficacy mediated the relationship between DCD and PA. (C) 2013 Published by Elsevier B.V.
C1 [Batey, C. A.; Missiuna, C. A.; Timmons, B. W.; Cairney, J.] McMaster Univ, Fac Hlth Sci, Hamilton, ON L8S 4K1, Canada.
[Hay, J. A.; Faught, B. E.] Brock Univ, Fac Appl Hlth Sci, St Catharines, ON L2S 3A1, Canada.
RP Cairney, J (reprint author), Dept Family Med, 175 Longwood Rd South, Hamilton, ON L8P 0A1, Canada.
EM cairnej@mcmaster.ca
FU Canadian Institutes of Health Research [66959]; Department of Family
Medicine at McMaster University
FX This study was supported by the Canadian Institutes of Health Research
(Grant #: 66959). Dr. Cairney is supported through an endowed
professorship in the Department of Family Medicine at McMaster
University. The Physical Health Activity Study Team (PHAST) appreciates
the commitment by children, parents and teachers from the District
School Board of Niagara. Laboratory and home-based assessment would not
have been successful without the diligent efforts of the PHAST research
coordinator, Nadilein Mahlberg. Finally, thanks to Joyce Obeid for all
of her hard work and help with analyzing the accelerometer data.
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NR 48
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-9457
EI 1872-7646
J9 HUM MOVEMENT SCI
JI Hum. Mov. Sci.
PD AUG
PY 2014
VL 36
BP 258
EP 271
DI 10.1016/j.humov.2013.10.003
PG 14
WC Neurosciences; Psychology; Psychology, Experimental; Sport Sciences
SC Neurosciences & Neurology; Psychology; Sport Sciences
GA AO4XW
UT WOS:000341345700021
PM 24345354
ER
PT J
AU Rahbar, MH
Samms-Vaughan, M
Ma, JZ
Bressler, J
Loveland, KA
Ardjomand-Hessabi, M
Dickerson, AS
Grove, ML
Shakespeare-Pellington, S
Beecher, C
McLaughlin, W
Boerwinkle, E
AF Rahbar, Mohammad H.
Samms-Vaughan, Maureen
Ma, Jianzhong
Bressler, Jan
Loveland, Katherine A.
Ardjomand-Hessabi, Manouchehr
Dickerson, Aisha S.
Grove, Megan L.
Shakespeare-Pellington, Sydonnie
Beecher, Compton
McLaughlin, Wayne
Boerwinkle, Eric
TI Role of Metabolic Genes in Blood Arsenic Concentrations of Jamaican
Children with and without Autism Spectrum Disorder
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE arsenic; autism spectrum disorder (ASD); glutathione S-transferase (GST)
genes; detoxification; interactions
ID GLUTATHIONE S-TRANSFERASES; OXIDATIVE STRESS; DRINKING-WATER; CHILDHOOD
AUTISM; DNA METHYLATION; MERCURY LEVELS; SKIN-LESIONS; EXPOSURE;
POLYMORPHISMS; RISK
AB Arsenic is a toxic metalloid with known adverse effects on human health. Glutathione-S-transferase (GST) genes, including GSTT1, GSTP1, and GSTM1, play a major role in detoxification and metabolism of xenobiotics. We investigated the association between GST genotypes and whole blood arsenic concentrations (BASC) in Jamaican children with and without autism spectrum disorder (ASD). We used data from 100 ASD cases and their 1: 1 age- and sex-matched typically developing (TD) controls (age 2-8 years) from Jamaica. Using log-transformed BASC as the dependent variable in a General Linear Model, we observed a significant interaction between GSTP1 and ASD case status while controlling for several confounding variables. However, for GSTT1 and GSTM1 we did not observe any significant associations with BASC. Our findings indicate that TD children who had the Ile/Ile or Ile/Val genotype for GSTP1 had a significantly higher geometric mean BASC than those with genotype Val/Val (3.67 mu g/L vs. 2.69 mu g/L, p < 0.01). Although, among the ASD cases, this difference was not statistically significant, the direction of the observed difference was consistent with that of the TD control children. These findings suggest a possible role of GSTP1 in the detoxification of arsenic.
C1 [Rahbar, Mohammad H.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Ma, Jianzhong] Univ Texas Hlth Sci Ctr Houston, Div Clin & Translat Sci, Dept Internal Med, Sch Med, Houston, TX 77030 USA.
[Rahbar, Mohammad H.; Ardjomand-Hessabi, Manouchehr; Dickerson, Aisha S.] Univ Texas Hlth Sci Ctr Houston, CCTS, Houston, TX 77030 USA.
[Samms-Vaughan, Maureen; Shakespeare-Pellington, Sydonnie] Univ W Indies, Dept Child & Adolescent Hlth, Kingston 7, Jamaica.
[Bressler, Jan; Grove, Megan L.; Boerwinkle, Eric] Univ Texas Sch Publ Hlth Houston, Ctr Human Genet, Houston, TX 77030 USA.
[Loveland, Katherine A.] Univ Texas Med Sch Houston, Dept Psychiat & Behav Sci, Houston, TX 77054 USA.
[Beecher, Compton; McLaughlin, Wayne] Univ W Indies, Dept Basic Med Sci, Kingston 7, Jamaica.
[McLaughlin, Wayne] Univ W Indies, Caribbean Genet CARIGEN, Kingston 7, Jamaica.
RP Rahbar, MH (reprint author), Univ Texas Sch Publ Hlth Houston, Div Epidemiol Human Genet & Environm Sci EHGES, Houston, TX 77030 USA.
EM Mohammad.H.Rahbar@uth.tmc.edu; msammsvaughan@gmail.com;
Jianzhong.Ma@uth.tmc.edu; Jan.Bressler@uth.tmc.edu;
Katherine.A.Loveland@uth.tmc.edu; Manouchehr.A.Hessabi@uth.tmc.edu;
Aisha.S.Dickerson@uth.tmc.edu; Megan.L.Grove@uth.tmc.edu;
sydonniesp@gmail.com; compton.beecher@uwimona.edu.jm;
wayne.mclaughlin@uwimona.edu.jm; Eric.Boerwinkle@uth.tmc.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development (NICHD); National Institutes of Health Fogarty International
Center (NIH-FIC) [R21HD057808]; National Institute of Environmental
Health Sciences (NIEHS) [R01ES022165];
Biostatistics/Epidemiology/Research Design (BERD) component of the
Center for Clinical and Translational Sciences (CCTS); NIH Centers for
Translational Science Award (NIH CTSA) [UL1 RR024148]; National Center
for Research Resources (NCRR) [UL1 TR000371]; National Center for
Advancing Translational Sciences (NCATS)
FX This research is co-funded by the Eunice Kennedy Shriver National
Institute of Child Health and Human Development (NICHD) and the National
Institutes of Health Fogarty International Center (NIH-FIC) by a grant
(R21HD057808) as well as National Institute of Environmental Health
Sciences (NIEHS) by a grant (R01ES022165) awarded to University of Texas
Health Science Center at Houston. We also acknowledge the support
provided by the Biostatistics/Epidemiology/Research Design (BERD)
component of the Center for Clinical and Translational Sciences (CCTS)
for this project. CCTS is mainly funded by the NIH Centers for
Translational Science Award (NIH CTSA) grant (UL1 RR024148), awarded to
University of Texas Health Science Center at Houston in 2006 by the
National Center for Research Resources (NCRR) and its renewal (UL1
TR000371) by the National Center for Advancing Translational Sciences
(NCATS). The content is solely the responsibility of the authors and
does not necessarily represent the official views of the NICHD or the
NIH-FIC or NIEHS or the NCRR or the NCATS.
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NR 77
TC 3
Z9 3
PU MDPI AG
PI BASEL
PA POSTFACH, CH-4005 BASEL, SWITZERLAND
SN 1660-4601
J9 INT J ENV RES PUB HE
JI Int. J. Environ. Res. Public Health
PD AUG
PY 2014
VL 11
IS 8
BP 7874
EP 7895
DI 10.3390/ijerph110807874
PG 22
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AO1UX
UT WOS:000341101700021
PM 25101770
ER
PT J
AU Bennett, CC
Sabanovic, S
AF Bennett, Casey C.
Sabanovic, Selma
TI Deriving Minimal Features for Human-Like Facial Expressions in Robotic
Faces
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Human-robot interaction; Facial expression; Emotion; Minimalist design;
Robot design
ID RECOGNITION; EMOTION; BEHAVIOR; PERCEPTION; AUTISM; REAL
AB This study explores deriving minimal features for a robotic face to convey information (via facial expressions) that people can perceive and understand. Recent research in computer vision has shown that a small number of moving points/lines can be used to capture the majority of information (95 %) in human facial expressions. Here, we apply such findings to a minimalist robot face design, which was run through a series of experiments with human subjects (n = 75) exploring the effect of various factors, including added neck motion and degree of expression. Facial expression identification rates were similar to more complex robots. In addition, added neck motion significantly improved facial expression identification rates to 100 % for all expressions (except Fear). The Negative Attitudes towards Robots (NARS) and Godspeed scales were also collected to examine user perceptions, e.g. perceived animacy and intelligence. The project aims to answer a number of fundamental questions about robotic face design, as well as to develop inexpensive and replicable robotic faces for experimental purposes.
C1 [Bennett, Casey C.; Sabanovic, Selma] Indiana Univ, Sch Informat & Comp, Bloomington, IN 47408 USA.
[Bennett, Casey C.] Centerstone Res Inst, Dept Informat, Bloomington, IN 47401 USA.
RP Bennett, CC (reprint author), Centerstone Res Inst, Dept Informat, 365 South Pk Ridge Rd, Bloomington, IN 47401 USA.
EM cabennet@indiana.edu
FU Indiana University's School of Informatics and Computing
FX The authors would like to thank Amyra Asamoah, Kay Jessee, and Matthew
R. Francisco for their assistance in performing this research. Funding
was provided by Indiana University's School of Informatics and
Computing.
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NR 71
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 367
EP 381
DI 10.1007/s12369-014-0237-z
PG 15
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200006
ER
PT J
AU Robins, B
Dautenhahn, K
AF Robins, Ben
Dautenhahn, Kerstin
TI Tactile Interactions with a Humanoid Robot: Novel Play Scenario
Implementations with Children with Autism
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Robot-assisted play; Assistive technology; Human-robot interaction;
Autism therapy
ID ASSISTED PLAY
AB The work presented in this paper was part of our investigation in the ROBOSKIN project. The project has developed new robot capabilities based on the tactile feedback provided by novel robotic skin, with the aim to provide cognitive mechanisms to improve human-robot interaction capabilities. This article presents two novel tactile play scenarios developed for robot-assisted play for children with autism. The play scenarios were developed against specific educational and therapeutic objectives that were discussed with teachers and therapists. These objectives were classified with reference to the ICF-CY, the International Classification of Functioning-version for Children and Youth. The article presents a detailed description of the play scenarios, and case study examples of their implementation in HRI studies with children with autism and the humanoid robot KASPAR.
C1 [Robins, Ben; Dautenhahn, Kerstin] Univ Hertfordshire, Sch Comp Sci, Adapt Syst Res Grp, Hatfield AL10 9AB, Herts, England.
RP Robins, B (reprint author), Univ Hertfordshire, Sch Comp Sci, Adapt Syst Res Grp, Hatfield AL10 9AB, Herts, England.
EM b.robins@herts.ac.uk; K.Dautenhahn@herts.ac.uk
FU European Commission [FP7-231500-ROBOSKIN]
FX This work has been partially supported by the European Commission under
contract number FP7-231500-ROBOSKIN
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NR 51
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 397
EP 415
DI 10.1007/s12369-014-0228-0
PG 19
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200008
ER
PT J
AU Wolbring, G
Yumakulov, S
AF Wolbring, Gregor
Yumakulov, Sophya
TI Social Robots: Views of Staff of a Disability Service Organization
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Disabled people; People with disabilities; Disability service
organization; Perception of social robots
ID AUTISM SPECTRUM DISORDERS; CHILDREN; THERAPY; DESIGN; CARE; MACHINES;
BEHAVIOR
AB Social robotics is an emerging field, with many applications envisioned for people with disabilities. This project examined the so far invisible views of disability service organization workers towards social robotics. Because community service workers' views shape community-based rehabilitation (an area of health interventions that focuses on social determinants), it is important to examine their views towards social robotics applications which are largely developed under a clinical/medical view of disability. We administered a survey to employees of a Saskatchewan disability service organization. Out of 44 respondents, 80 % were female, most aged 21-65 years. Robotics applications perceived to be important included domestic robots, and rehabilitation robots. Least important applications included eldercare robots, companion robots, and pet robots. Most participants felt that robots cannot replace human touch, human interaction, or emotional companionship, and that they cannot/should not replace human workers in the disability setting. Many expressed concerns about safety, normality for disabled people, and artificial interactions. Respondents also had views on whether a social robot can be a bully or could be bullied. We submit that the perspectives our respondents exhibited might be useful to consider in the development of social robots for applications around disability in order to ensure acceptable and relevant products.
C1 [Wolbring, Gregor; Yumakulov, Sophya] Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada.
RP Wolbring, G (reprint author), Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada.
EM gwolbrin@ucalgary.ca; syumakul@ucalgary.ca
FU Faculty of Medicine, University of Calgary
FX This work was in part supported by a Bridge funding grant of GW from the
Faculty of Medicine, University of Calgary; we would like to thank the
University of Calgary for paying for the Springer open access option
through their open access fund.
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NR 73
TC 0
Z9 0
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1875-4791
EI 1875-4805
J9 INT J SOC ROBOT
JI Int. J. Soc. Robot.
PD AUG
PY 2014
VL 6
IS 3
SI SI
BP 457
EP 468
DI 10.1007/s12369-014-0229-z
PG 12
WC Robotics
SC Robotics
GA AN3NW
UT WOS:000340496200012
ER
PT J
AU Buescher, AVS
Cidav, Z
Knapp, M
Mandell, DS
AF Buescher, Ariane V. S.
Cidav, Zuleyha
Knapp, Martin
Mandell, David S.
TI Costs of Autism Spectrum Disorders in the United Kingdom and the United
States
SO JAMA PEDIATRICS
LA English
DT Article
ID HEALTH-CARE UTILIZATION; PSYCHIATRIC-HOSPITALIZATION; CHILDREN;
EXPENDITURES; EMPLOYMENT; SERVICE; UK; EXPERIENCES; ADULTS; HOME
AB IMPORTANCE The economic effect of autism spectrum disorders (ASDs) on individuals with the disorder, their families, and society as a whole is poorly understood and has not been updated in light of recent findings.
OBJECTIVE To update estimates of age-specific, direct, indirect, and lifetime societal economic costs, including new findings on indirect costs, such as individual and parental productivity costs, associated with ASDs.
DESIGN, SETTING, AND PARTICIPANTS A literature review was conducted of US and UK studies on individuals with ASDs and their families in October 2013 using the following keywords: age, autism spectrum disorder, prevalence, accommodation, special education, productivity loss, employment, costs, and economics. Current data on prevalence, level of functioning, and place of residence were combined with mean annual costs of services and support, opportunity costs, and productivity losses of individuals with ASDs with or without intellectual disability.
EXPOSURE Presence of ASDs.
MAIN OUTCOMES AND MEASURES Mean annual medical, nonmedical, and indirect economic costs and lifetime costs were measured for individuals with ASDs separately for individuals with and without intellectual disability in the United States and the United Kingdom.
RESULTS The cost of supporting an individual with an ASD and intellectual disability during his or her lifespan was $2.4 million in the United States and 1.5 pound million (US $2.2 million) in the United Kingdom. The cost of supporting an individual with an ASD without intellectual disability was $1.4 million in the United States and 0.92 pound million (US $1.4 million) in the United Kingdom. The largest cost components for children were special education services and parental productivity loss. During adulthood, residential care or supportive living accommodation and individual productivity loss contributed the highest costs. Medical costs were much higher for adults than for children.
CONCLUSIONS AND RELEVANCE The substantial direct and indirect economic effect of ASDs emphasizes the need to continue to search for effective interventions that make best use of scarce societal resources. The distribution of economic effect across many different service systems raises questions about coordination of services and sectors. The enormous effect on families also warrants policy attention.
C1 [Buescher, Ariane V. S.; Knapp, Martin] Univ London London Sch Econ & Polit Sci, Personal Social Serv Res Unit, London WC2A 2AE, England.
[Cidav, Zuleyha; Mandell, David S.] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Cidav, Zuleyha; Mandell, David S.] Childrens Hosp Philadelphia, Ctr ASD Res, Philadelphia, PA 19104 USA.
RP Mandell, DS (reprint author), Univ Penn, Ctr Mental Hlth Policy & Serv Res, 3535 Market St, Philadelphia, PA 19104 USA.
EM mandelld@upenn.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
FU Autism Speaks; Steve Shirley Foundation
FX This study was funded by Autism Speaks. Estimates for the United Kingdom
were built on previous research funded by the Steve Shirley Foundation.
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NR 47
TC 15
Z9 16
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-6203
EI 2168-6211
J9 JAMA PEDIATR
JI JAMA Pediatr.
PD AUG
PY 2014
VL 168
IS 8
BP 721
EP 728
DI 10.1001/jamapediatrics.2014.210
PG 8
WC Pediatrics
SC Pediatrics
GA AN0TZ
UT WOS:000340298200011
PM 24911948
ER
PT J
AU Millard, H
McLaren, JL
Coffey, BJ
AF Millard, Hun
McLaren, Jennifer L.
Coffey, Barbara J.
TI Lurasidone Treatment in a Child with Autism Spectrum Disorder with
Irritability and Aggression
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
C1 [Millard, Hun; McLaren, Jennifer L.] Geisel Sch Med Dartmouth, Dept Psychiat, Lebanon, NH USA.
[Coffey, Barbara J.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
RP Coffey, BJ (reprint author), Icahn Sch Med Mt Sinai, One Gustave L Levy Pl,Box 1230, New York, NY 10029 USA.
EM Barbara.coffey@mssm.edu
FU Boehringer Ingelheim; Bristol-Myers; Eli Lilly Pharmaceutical; National
Institute of Mental Health (NIMH); National Institute of Neurological
Disorders and Stroke (NINDS); Otsuka; Pfizer; Shire; Tourette Syndrome
Association
FX Drs. Millard and McLaren have no conflicts of interest or financial ties
to disclose. Dr. Coffey has received research support from Boehringer
Ingelheim, Bristol-Myers, Eli Lilly Pharmaceutical, National Institute
of Mental Health (NIMH), National Institute of Neurological Disorders
and Stroke (NINDS), Otsuka, Pfizer, Shire, and Tourette Syndrome
Association.
CR Baribeau DA, 2014, CURR PSYCHIAT REP, V16, DOI 10.1007/s11920-014-0437-0
Doyle CA, 2012, EXPERT OPIN PHARMACO, V13, P1615, DOI 10.1517/14656566.2012.674110
Politte LC, 2014, PSYCHOPHARMACOLOGY, V231, P1023, DOI 10.1007/s00213-013-3068-y
Stahl SM, 2013, STAHLS ESSENTIAL PSY
NR 4
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD AUG
PY 2014
VL 24
IS 6
BP 354
EP 356
DI 10.1089/cap.2014.2462
PG 3
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AN7ZW
UT WOS:000340820700009
ER
PT J
AU Otsuka, Y
Mareschal, I
Calder, AJ
Clifford, CWG
AF Otsuka, Yumiko
Mareschal, Isabelle
Calder, Andrew J.
Clifford, Colin W. G.
TI Dual-Route Model of the Effect of Head Orientation on Perceived Gaze
Direction
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-HUMAN PERCEPTION AND PERFORMANCE
LA English
DT Article
DE gaze perception; cue combination; head orientation; Wollaston effect;
dual-route model
ID UNIQUE MORPHOLOGY; TEMPORAL CORTEX; EYE DIRECTION; PERCEPTION; LOOKING;
AUTISM; JUDGMENT; FACE; ACCURACY; CHILDREN
AB Previous studies on gaze perception have identified 2 opposing effects of head orientation on perceived gaze direction-1 repulsive and the other attractive. However, the relationship between these 2 effects has remained unclear. By using a gaze categorization task, the current study examined the effect of head orientation on the perceived direction of gaze in a whole-head condition and an eye-region condition. We found that the perceived direction of gaze was generally biased in the opposite direction to head orientation (a repulsive effect). Importantly, the magnitude of the repulsive effect was more pronounced in the eye-region condition than in the whole-head condition. Based on these findings, we developed a dual-route model, which proposes that the 2 opposing effects of head orientation occur through 2 distinct routes. In the framework of this dual-route model, we explain and reconcile the findings from previous studies, and provide a functional account of attractive and repulsive effects and their interaction.
C1 [Otsuka, Yumiko; Clifford, Colin W. G.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Mareschal, Isabelle] Univ Sydney, Sydney, NSW 2006, Australia.
[Mareschal, Isabelle] Queen Mary Univ London, Dept Psychol, Sch Chem & Biol Sci, London, England.
[Calder, Andrew J.] MRC Cognit & Brain Sci Unit, Cambridge, England.
[Clifford, Colin W. G.] Univ Sydney, Australian Ctr Excellence Vis Sci, Sydney, NSW 2006, Australia.
RP Otsuka, Y (reprint author), Univ New S Wales, Sch Psychol, Mathews Bldg, Sydney, NSW 2052, Australia.
EM yumikoot@gmail.com
RI Otsuka, Yumiko/J-5628-2014
FU Australian Research Council [DP120102589]; Medical Research Council,
United Kingdom [MC_US_A060_5PQ50]
FX This work is supported by Australian Research Council Discovery Project
[DP120102589] to Colin Clifford and Andrew Calder; Colin Clifford is
supported by an Australian Research Council Future Fellowship; Andrew
Calder is supported by the Medical Research Council, United Kingdom
[grant ref. MC_US_A060_5PQ50].
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NR 37
TC 2
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-1523
EI 1939-1277
J9 J EXP PSYCHOL HUMAN
JI J. Exp. Psychol.-Hum. Percept. Perform.
PD AUG
PY 2014
VL 40
IS 4
BP 1425
EP 1439
DI 10.1037/a0036151
PG 15
WC Psychology; Psychology, Experimental
SC Psychology
GA AN3FR
UT WOS:000340471300015
PM 24730742
ER
PT J
AU Rutkowski, EM
Brimer, D
AF Rutkowski, Elaine M.
Brimer, Debbie
TI Physical Education Issues for Students With Autism: School Nurse
Challenges
SO JOURNAL OF SCHOOL NURSING
LA English
DT Article
DE autism spectrum disorder (ASD); Individualized Education Plan (IEP);
physical education (PE)
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGERS-DISORDER; MOTOR;
CHILDREN; PREVALENCE
AB Extant studies indicate persons with autism have difficulties in social interaction, verbal and nonverbal communication, repetitive behaviors, and poor ability to generalize learned skills. Obesity has also been identified as significantly affecting children with autism spectrum disorders (ASD). Negative experience in physical education (PE) may be the antecedent behavior to lack of activities that are mediators to sedentary lifestyles and contributors to the chronic illnesses associated with overweight and obesity. Students with ASD often cannot perform required activities to meet required PE standards. It is imperative school nurses be aware of the many challenges students with ASD bring into a PE class. School nurses provide education for the members of the school community, including the Individualized Education Plan team, regarding the need for attention to limitations, including physical activity, of students with ASD.
C1 [Rutkowski, Elaine M.] Calif State Univ Fullerton, Fullerton, CA 92834 USA.
[Brimer, Debbie] Antelope Valley Union High Sch Dist, Lancaster, CA USA.
RP Rutkowski, EM (reprint author), Calif State Univ Fullerton, POB 6868, Fullerton, CA 92834 USA.
EM erutkowski@fullerton.edu
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Centers for Disease Control and Prevention, 2012, MORBIDITY MORTALITY
Deokar AM, 2008, PEDIATR CLIN N AM, V55, P1147, DOI 10.1016/j.pcl.2008.07.006
Fombonne E, 2003, JAMA-J AM MED ASSOC, V289, P87, DOI 10.1001/jama.289.1.87
Green D., 2008, DEV MED CHILD NEUROL, V51, P311
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Jansiewicz EM, 2006, J AUTISM DEV DISORD, V36, P613, DOI 10.1007/s10803-006-0109-y
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National Association for Sport and Physical Education, 2004, NAT STAND PHYS ED
National Autism Center, 2011, EV BAS PRACT AUT SCH, P1
Nayate A, 2005, BRAIN RES BULL, V67, P327, DOI 10.1016/j.brainresbull.2005.07.011
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Sahlander Carina, 2008, Physiotherapy Theory and Practice, V24, P73, DOI 10.1080/15368370701380843
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Siedentop D., 2009, J PHYS ACT HEALTH, V6, P168
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United States Department of Education, 2003, 25 C IMPL IND DIS ED
University of Michigan, 1994, SURV COGN AG ARCH
Wilczynski SM, 2007, PSYCHOL SCHOOLS, V44, P653, DOI 10.1002/pits
Winnick JP, 2005, ADAPT PHYS ACT Q, V22, P315
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NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1059-8405
EI 1546-8364
J9 J SCH NURS
JI J. Sch. Nurs.
PD AUG
PY 2014
VL 30
IS 4
BP 256
EP 261
DI 10.1177/1059840513503686
PG 6
WC Nursing
SC Nursing
GA AN6QE
UT WOS:000340719800004
PM 24014552
ER
PT J
AU Chiu, YN
Chou, MC
Lee, JC
Wong, CC
Chou, WJ
Wu, YY
Chien, YL
Gau, SSF
AF Chiu, Yen-Nan
Chou, Miao-Chun
Lee, Ju-Chin
Wong, Ching-Ching
Chou, Wen-Jiun
Wu, Yu-Yu
Chien, Yi-Ling
Gau, Susan Shur-Fen
TI Determinants of maternal satisfaction with diagnosis disclosure of
autism
SO JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
LA English
DT Article
DE autism; disclosure; informed counseling; mothers; satisfaction
ID SEVERE MENTAL HANDICAP; DOWNS-SYNDROME; SPECTRUM DISORDER; PARENTING
STYLE; 1ST INFORMATION; CHILDREN; DISABILITY; FAMILIES; COMMUNICATION;
PROFESSIONALS
AB Background/Purpose: Diagnosis disclosure is an important clinical issue in developmental disabilities, which may influence parents' ability to cope with their child's conditions. This paper presents the content and patterns of diagnosis-informed counseling for mothers of children with autism and investigates the determinants for maternal satisfaction with this counseling, in order to improve clinical practice.
Methods: Mothers of 151 children, aged 3-12 years, with DSM-IV autistic disorder, confirmed by the Chinese version of the Autism Diagnostic Interview-Revised, were assessed. We collected information about the mothers' experience with diagnosis-informed counseling, their personality characteristics, and the extent to which they were satisfied with the counseling.
Results: Satisfaction with diagnosis-informed counseling was related more to the context of the counseling, including the attitude of the counselors and the timing and duration of counseling, than to its content. Parents' social desirability, educational level, and employment status were negatively associated with their satisfaction with counseling. However, immediate emotion, neuroticism, and extroversion did not have a significant effect on the satisfaction with counseling. Approximately 60% of the mothers preferred to be informed of having an autistic child after the diagnosis had been confirmed.
Conclusion: Our findings suggest that more efforts are needed to improve the quality of diagnosis-informed counseling in autism, particularly in the context of breaking the news to mothers of children with autism. Future study could further examine the moderating effect of diagnostic subtype of autism spectrum disorders, treatment response, or social support on maternal satisfaction with diagnosis-informed counseling (ClinicalTrials.gov number, NCT00494754). Copyright (C) 2012, Elsevier Taiwan LLC & Formosan Medical Association. All rights reserved.
C1 [Chiu, Yen-Nan; Chien, Yi-Ling; Gau, Susan Shur-Fen] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 10002, Taiwan.
[Chiu, Yen-Nan; Chien, Yi-Ling; Gau, Susan Shur-Fen] Coll Med, Taipei, Taiwan.
[Chou, Miao-Chun; Chou, Wen-Jiun] Kaohsiung Chang Gung Mem Hosp, Dept Child & Adolescent Psychiat, Kaohsiung, Taiwan.
[Chou, Miao-Chun; Chou, Wen-Jiun] Chang Gung Univ, Coll Med, Kaohsiung, Taiwan.
[Lee, Ju-Chin] Wan Fang Hosp, Dept Psychiat, Taipei, Taiwan.
[Wong, Ching-Ching] Taipei City Hosp, Branch Women & Children, Taipei Child Assessment & Early Intervent Ctr, Taipei, Taiwan.
[Wu, Yu-Yu] Chang Gung Mem Hosp, Dept Child Psychiat, Linkou Med Ctr, Taoyuan, Taiwan.
RP Chien, YL (reprint author), Natl Taiwan Univ Hosp, Dept Psychiat, 7 Chung Shan South Rd, Taipei 10002, Taiwan.
EM ylchien@hotmail.com
FU National Science Council (gs1), Taiwan [NSC96-3112-B-002-033,
NSC97-3112-B-002-009, N5C98-3112-B-002-004]
FX This work was supported by grants from the National Science Council
(gs1) (NSC96-3112-B-002-033; NSC96-3112-B-002-033; NSC97-3112-B-002-009;
N5C98-3112-B-002-004), Taiwan.
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NR 41
TC 0
Z9 0
PU ELSEVIER TAIWAN
PI TAIPEI
PA RM N-412, 4F, CHIA HSIN BUILDING 11, NO 96, ZHONG SHAN N ROAD SEC 2,
TAIPEI, 10449, TAIWAN
SN 0929-6646
J9 J FORMOS MED ASSOC
JI J. Formos. Med. Assoc.
PD AUG
PY 2014
VL 113
IS 8
BP 540
EP 548
DI 10.1016/j.jfma.2012.07.040
PG 9
WC Medicine, General & Internal
SC General & Internal Medicine
GA AO1HF
UT WOS:000341062500009
PM 25037759
ER
PT J
AU Wolf, EJ
Mitchell, KS
Logue, MW
Baldwin, CT
Reardon, AF
Aiello, A
Galea, S
Koenen, KC
Uddin, M
Wildman, D
Miller, MW
AF Wolf, Erika J.
Mitchell, Karen S.
Logue, Mark W.
Baldwin, Clinton T.
Reardon, Annemarie F.
Aiello, Alison
Galea, Sandro
Koenen, Karestan C.
Uddin, Monica
Wildman, Derek
Miller, Mark W.
TI The Dopamine D-3 Receptor Gene and Posttraumatic Stress Disorder
SO JOURNAL OF TRAUMATIC STRESS
LA English
DT Article
ID MULTILOCUS GENOTYPE DATA; NICOTINE DEPENDENCE; NUCLEUS-ACCUMBENS; MAJOR
DEPRESSION; SEX-DIFFERENCES; SCHIZOPHRENIA; D3; ASSOCIATION; DRD3;
POPULATION
AB The dopamine D-3 receptor (DRD3) gene has been implicated in schizophrenia, autism, and substance use-disorders and is related to emotion reactivity, executive functioning, and stress-responding, processes impaired in posttraumatic stress disorder (PTSD). The aim of this candidate gene study was to evaluate DRD3 polymorphisms for association with PTSD. The discovery sample was trauma-exposed White, non-Hispanic U.S. veterans and their trauma-exposed intimate partners (N = 491); 60.3% met criteria for lifetime PTSD. The replication sample was 601 trauma-exposed African American participants living in Detroit, Michigan; 23.6% met criteria for lifetime PTSD. Genotyping was based on high-density bead chips. In the discovery sample, 4 single nucleotide polymorphisms (SNPs), rs2134655, rs201252087, rs4646996, and rs9868039, showed evidence of association with PTSD and withstood correction for multiple testing. The minor alleles were associated with reduced risk for PTSD (OR range= 0.59 to 0.69). In the replication sample, rs2251177, located 149 base pairs away from the most significant SNP in the discovery sample, was nominally associated with PTSD in men (OR = 0.32). Although the precise role of the D3 receptor in PTSD is not yet known, its role in executive functioning and emotional reactivity, and the sensitivity of the dopamine system to environmental stressors could potentially explain this association.
C1 [Wolf, Erika J.; Mitchell, Karen S.; Reardon, Annemarie F.; Miller, Mark W.] VA Boston Healthcare Syst, Natl Ctr PTSD, Boston, MA USA.
[Wolf, Erika J.; Mitchell, Karen S.; Miller, Mark W.] Boston Univ, Sch Med, Dept Psychiat, Boston, MA 02118 USA.
[Logue, Mark W.; Baldwin, Clinton T.] Boston Univ, Sch Med, Boston, MA 02118 USA.
[Logue, Mark W.] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA.
[Baldwin, Clinton T.] Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA.
[Aiello, Alison] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA.
[Galea, Sandro; Koenen, Karestan C.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Uddin, Monica; Wildman, Derek] Wayne State Univ, Sch Med, Ctr Mol Med & Genet, Detroit, MI USA.
[Uddin, Monica] Wayne State Univ, Sch Med, Dept Psychiat & Behav Neurosci, Detroit, MI USA.
RP Miller, MW (reprint author), 150 South Huntington Ave 116B-2, Boston, MA 02130 USA.
EM Mark.Miller5@va.gov
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NR 68
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0894-9867
EI 1573-6598
J9 J TRAUMA STRESS
JI J. Trauma Stress
PD AUG
PY 2014
VL 27
IS 4
BP 379
EP 387
DI 10.1002/jts.21937
PG 9
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AO2ZQ
UT WOS:000341198000001
PM 25158632
ER
PT J
AU Rouse, CA
Alber-Morgan, SR
Cullen, JM
Sawyer, M
AF Rouse, Christina A.
Alber-Morgan, Sheila R.
Cullen, Jennifer M.
Sawyer, Mary
TI Using Prompt Fading to Teach Self-Questioning to Fifth Graders with LD:
Effects on Reading Comprehension
SO LEARNING DISABILITIES RESEARCH & PRACTICE
LA English
DT Article
ID LEARNING-DISABILITIES; STUDENTS; STRATEGY; INSTRUCTION; TEXT; KNOWLEDGE;
AUTISM
AB Students with LD who struggle with reading comprehension can benefit from instruction on how to read strategically. One strategy that has been demonstrated to increase reading comprehension is self-questioning. In this study, two fifth graders with LD were taught to self-generate questions using a prompt fading procedure. The participants were provided with expository reading passages with embedded questions. As each participant demonstrated proficiency with answering the embedded questions correctly, the embedded questions were systematically faded and replaced with a prompt for the students to generate their own questions. A multiple baseline across participants design demonstrated that the self-questioning intervention resulted in improvements in reading comprehension for both students. Additionally, the students demonstrated evidence of maintenance and generalization of reading comprehension outcomes.
C1 [Rouse, Christina A.; Alber-Morgan, Sheila R.; Sawyer, Mary] Ohio State Univ, Columbus, OH 43210 USA.
[Cullen, Jennifer M.] Ball State Univ, Muncie, IN 47306 USA.
RP Alber-Morgan, SR (reprint author), Ohio State Univ, Columbus, OH 43210 USA.
EM Morgan.651@osu.edu
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NR 28
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0938-8982
EI 1540-5826
J9 LEARN DISABIL RES PR
PD AUG
PY 2014
VL 29
IS 3
BP 117
EP 125
DI 10.1111/ldrp.12036
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN6CB
UT WOS:000340680200006
ER
PT J
AU Isshiki, M
Tanaka, S
Kuriu, T
Tabuchi, K
Takumi, T
Okabe, S
AF Isshiki, Masaaki
Tanaka, Shinji
Kuriu, Toshihiko
Tabuchi, Katsuhiko
Takumi, Toru
Okabe, Shigeo
TI Enhanced synapse remodelling as a common phenotype in mouse models of
autism
SO NATURE COMMUNICATIONS
LA English
DT Article
ID FRAGILE-X MICE; LONG-TERM; DENDRITIC SPINES; SOMATOSENSORY CORTEX;
CRANIAL WINDOW; THALAMOCORTICAL SYNAPSES; POSTSYNAPTIC DENSITY;
INHIBITORY SYNAPSES; PYRAMIDAL NEURONS; FRONTAL-CORTEX
AB Developmental deficits in neuronal connectivity are considered to be present in patients with autism spectrum disorders (ASDs). Here we examine this possibility by using in vivo spine imaging in the early postnatal cortex of ASD mouse models. Spines are classified by the presence of either the excitatory postsynaptic marker PSD-95 or the inhibitory postsynaptic marker gephyrin. ASD mouse models show consistent upregulation in the dynamics of PSD-95-positive spines, which may subsequently contribute to stable synaptic connectivity. In contrast, spines receiving inputs from the thalamus, detected by the presence of gephyrin clusters, are larger, highly stable and unaffected in ASD mouse models. Importantly, two distinct mouse models, human 15q11-13 duplication and neuroligin-3 R451C point mutation, show highly similar phenotypes in spine dynamics. This selective impairment in dynamics of PSD-95-positive spines receiving intracortical projections may be a core component of early pathological changes and be a potential target of early intervention.
C1 [Isshiki, Masaaki; Tanaka, Shinji; Okabe, Shigeo] Univ Tokyo, Grad Sch Med, Dept Cellular Neurobiol, Bunkyo Ku, Tokyo 1130033, Japan.
[Kuriu, Toshihiko] Tokushima Bunri Univ, Kagawa Sch Pharmaceut Sci, Dept Neurophysiol, Tokushima, Kagawa 7692193, Japan.
[Tabuchi, Katsuhiko] Shinshu Univ, Dept Mol & Cellular Physiol, Sch Med, Matsumoto, Nagano 3908621, Japan.
[Tabuchi, Katsuhiko] Japan Sci & Technol Agcy JST, PRESTO, Kawaguchi, Saitama 3320012, Japan.
[Takumi, Toru] RIKEN, Brain Sci Inst, Wako, Saitama 3510198, Japan.
[Takumi, Toru] Japan Sci & Technol Agcy JST, CREST, Kawaguchi, Saitama 3320012, Japan.
RP Okabe, S (reprint author), Univ Tokyo, Grad Sch Med, Dept Cellular Neurobiol, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1130033, Japan.
EM okabe@m.u-tokyo.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology of Japan
[21220008, 25117006, 26250014]; Global COE Program; Takeda Science
Foundation [11J05614]; Naito Memorial Foundation
FX We thank Taisuke Mizuguchi and Noriyuki Hayashi for data analysis, Satoe
Ebihara for technical support, and Dr Shigeo Takamori for providing
VGluT1 antibody. The BTBR T + tf mouse strain (RBRC 01206) was provided
by RIKEN BRC through the National Bio-Resource Project of the MEXT,
Japan. This work was supported by Grants-in-Aid for Scientific Research
(21220008, 25117006 and 26250014 to S.O.), 'Development of biomarker
candidates for social behavior' study conducted under the Strategic
Research Program for Brain Sciences by the Ministry of Education,
Culture, Sports, Science and Technology of Japan (S.O.), Global COE
Program (Integrative Life Science Based on the Study of Biosignaling
Mechanisms to S.O.), Grant-in-Aid for JSPS Fellows (11J05614 to M.I.),
Takeda Science Foundation (S.O.) and Naito Memorial Foundation (S.O.).
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NR 68
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD AUG
PY 2014
VL 5
AR 4742
DI 10.1038/ncomms5742
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO1OC
UT WOS:000341081500001
PM 25144834
ER
PT J
AU Muller, M
Can, K
AF Mueller, Michael
Can, Karolina
TI Aberrant redox homoeostasis and mitochondrial dysfunction in Rett
syndrome
SO BIOCHEMICAL SOCIETY TRANSACTIONS
LA English
DT Article
DE antioxidant; autism spectrum disorder; mitochondrial disease; oxidative
stress; reactive oxygen species (ROS); redox imaging
ID MOUSE MODEL; OXIDATIVE STRESS; CARBOHYDRATE-METABOLISM; MECP2; BRAIN;
ABNORMALITIES; NEURONS; EXPRESSION; MUTATION; DISEASE
AB RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical imbalance and miscommunication of neuronal elements. Different pharmacotherapies mediate partial improvement of conditions in RTT, and also antioxidants or compounds improving mitochondrial function may be of potential merit. In the present paper, we summarize findings from patients and transgenic mice that point towards the nature of RTT as a mitochondrial disease. Also, open questions are addressed that require clarification to fully understand and successfully target the associated cellular redox imbalance.
C1 [Mueller, Michael; Can, Karolina] Univ Gottingen, Inst Neuro & Sinnesphysiol, Zentrum Physiol & Pathophysiol,Univ Med, Ctr Nanoscale Microscopy & Mol Physiol Brain CNMP, D-37073 Gottingen, Germany.
RP Muller, M (reprint author), Univ Gottingen, Inst Neuro & Sinnesphysiol, Zentrum Physiol & Pathophysiol,Univ Med, Ctr Nanoscale Microscopy & Mol Physiol Brain CNMP, Humboldtallee 23, D-37073 Gottingen, Germany.
EM mmuelle7@gwdg.de
RI Muller, Michael/F-7222-2010
FU Deutsche Forschungsgemeinschaft (Center for Nanoscale Microscopy and
Molecular Physiology of the Brain, CNMPB); International Rett Syndrome
Foundation (IRSF) [2817]
FX Our research was funded by the Deutsche Forschungsgemeinschaft (Center
for Nanoscale Microscopy and Molecular Physiology of the Brain, CNMPB)
and the International Rett Syndrome Foundation (IRSF) [grant number
2817].
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NR 50
TC 0
Z9 0
PU PORTLAND PRESS LTD
PI LONDON
PA CHARLES DARWIN HOUSE, 12 ROGER STREET, LONDON WC1N 2JU, ENGLAND
SN 0300-5127
EI 1470-8752
J9 BIOCHEM SOC T
JI Biochem. Soc. Trans.
PD AUG
PY 2014
VL 42
BP 959
EP 964
DI 10.1042/BST20140071
PN 4
PG 6
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AN1FX
UT WOS:000340329200039
PM 25109986
ER
PT J
AU El Marroun, H
White, TJH
van der Knaap, NJF
Homberg, JR
Fernandez, G
Schoemaker, NK
Jaddoe, VWV
Hofman, A
Verhulst, FC
Hudziak, JJ
Stricker, BHC
Tiemeier, H
AF El Marroun, Hanan
White, Tonya J. H.
van der Knaap, Noortje J. F.
Homberg, Judith R.
Fernandez, Guilen
Schoemaker, Nikita K.
Jaddoe, Vincent W. V.
Hofman, Albert
Verhulst, Frank C.
Hudziak, James J.
Stricker, Bruno H. C.
Tiemeier, Henning
TI Prenatal exposure to selective serotonin reuptake inhibitors and social
responsiveness symptoms of autism: population-based study of young
children
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Article
ID ANTIDEPRESSANT EXPOSURE; FETAL-GROWTH; IN-UTERO; MATERNAL DEPRESSION;
SPECTRUM DISORDERS; BEHAVIOR CHECKLIST; NEONATAL OUTCOMES; STATISTICS
NOTES; BIRTH OUTCOMES; PREGNANT-WOMEN
AB Background Selective serotonin reuptake inhibitors (SSRIs) are considered safe and are frequently used during pregnancy. However, two case-control studies suggested an association between prenatal SSRI exposure with childhood autism.
Aims To prospectively determine whether intra-uterine SSSRI exposure is associated with childhood autistic symptoms in a population-based study.
Method A total of 376 children prenatally exposed to maternal depressive symptoms (no SSRI exposure), 69 children prenatally exposed to SSRIs and 5531 unexposed children were included. Child pervasive developmental and affective problems were assessed by parental report with the Child Behavior Checklist at ages 1.5, 3 and 6. At age 6, we assessed autistic traits using the Social Responsiveness Scale (n = 4264).
Results Prenatal exposure to maternal depressive symptoms without SSRIs was related to both pervasive developmental (odds ratio (OR) = 1.44, 95% CI 1.07-1.93) and affective problems (OR = 1.44, 95% CI 1.15-1.81). Compared with unexposed children, those prenatally exposed to SSRIs also were at higher risk for developing pervasive developmental problems (OR = 1.91, 95% CI 1.13-3.47), but not for affective problems. Children prenatally exposed to SSRIs also had more autistic traits (B=0.15, 95% CI 0.08-0.22) compared with those exposed to depressive symptoms only.
Conclusions Our results suggest an association between prenatal SSRI exposure and autistic traits in children. Prenatal depressive symptoms without SSRI use were also associated with autistic traits, albeit this was weaker and less specific. Longterm drug safety trials are needed before evidence-based recommendations are possible.
C1 [El Marroun, Hanan; White, Tonya J. H.; Schoemaker, Nikita K.] Sophia Childrens Univ Hosp, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
[El Marroun, Hanan; Schoemaker, Nikita K.] Erasmus MC, Generat R Study Grp, Rotterdam, Netherlands.
[White, Tonya J. H.] Erasmus MC, Dept Radiol, Rotterdam, Netherlands.
[van der Knaap, Noortje J. F.; Homberg, Judith R.; Fernandez, Guilen] Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands.
[Jaddoe, Vincent W. V.] Erasmus MC, Dept Epidemiol, Generat R Study Grp, Rotterdam, Netherlands.
[Jaddoe, Vincent W. V.] Erasmus MC, Dept Pediat, Rotterdam, Netherlands.
[Hofman, Albert; Stricker, Bruno H. C.] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.
[Verhulst, Frank C.; Hudziak, James J.; Tiemeier, Henning] Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
[Hudziak, James J.] Univ Vermont, Coll Med, Deptartment Psychiat, Burlington, VT USA.
[Stricker, Bruno H. C.] Inspectorate Healthcare, The Hague, Netherlands.
[Tiemeier, Henning] Sophia Childrens Univ Hosp, Dept Child & Adolescent Psychiat, Dept Epidemiol, NL-3000 CB Rotterdam, Netherlands.
[Tiemeier, Henning] Erasmus MC, Dept Psychiat, Rotterdam, Netherlands.
RP Tiemeier, H (reprint author), Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Child & Adolescent Psychiat, NL-3000 CB Rotterdam, Netherlands.
EM h.tiemeier@erasmusmc.nl
RI Fernandez, Guillen/B-3771-2009; Homberg, Judith/D-2473-2010
OI Fernandez, Guillen/0000-0002-5522-0604;
FU Sophia Children's Hospital Fund [SSWO-616]; Erasmus Medical Centre;
Netherlands Organization for Health Research and Development (Zon MW
Geestkracht Program) [10.000.1003]; Netherlands Organization for Health
Research and Development (ZonMw TOP) [40-00812-98-11021]; Netherlands
Organization for Health Research and Development (NWO Brain & Cognition
Program) [433-09-311]; Netherlands Organization for Health Research and
Development (VIDI) [017.106.370]
FX The Sophia Children's Hospital Fund (SSWO-616) supported this work
financially. The first phase of the Generation R Study was made possible
by financial support from the Erasmus Medical Centre and The Netherlands
Organization for Health Research and Development (Zon MW Geestkracht
Program 10.000.1003 & ZonMw TOP 40-00812-98-11021, NWO Brain & Cognition
Program Grant 433-09-311 and VIDI Grant 017.106.370)
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NR 56
TC 2
Z9 2
PU ROYAL COLLEGE OF PSYCHIATRISTS
PI LONDON
PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG,
ENGLAND
SN 0007-1250
EI 1472-1465
J9 BRIT J PSYCHIAT
JI Br. J. Psychiatry
PD AUG
PY 2014
VL 205
IS 2
BP 95
EP 102
DI 10.1192/bjp.bp.113.127746
PG 8
WC Psychiatry
SC Psychiatry
GA AM7CR
UT WOS:000340022800004
PM 25252317
ER
PT J
AU Feldman, R
Golan, O
Hirschler-Guttenberg, Y
Ostfeld-Etzion, S
Zagoory-Sharon, O
AF Feldman, Ruth
Golan, Ofer
Hirschler-Guttenberg, Yael
Ostfeld-Etzion, Sharon
Zagoory-Sharon, Orna
TI Parent child interaction and oxytocin production in pre-schoolers with
autism spectrum disorder
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Article
ID RECEPTOR GENE OXTR; INTRANASAL OXYTOCIN; SOCIAL ENGAGEMENT; ASSOCIATION;
EXPRESSION; SYNCHRONY; COGNITION; BEHAVIOR
AB Background Autism spectrum disorder (ASD) is associated with genetic risk on the oxytocin,system, suggesting oxytocin involvement in ASD; yet oxytocin functioning in young children with ASD is unknown.
Aims To assess baseline oxytocin in pre-schoolers with ASD and test whether oxytocin production may be enhanced by parent-child contact.
Method Forty pre-schoolers with high-functioning ASD were matched with 40. typically developing controls. Two home visits included an identical 45-minute social battery once with the mother and once with the father. Four saliva oxytocin samples were collected from each parent and the child during each visit.
Results Children with ASD had lower baseline oxytocin. Following 20 mm of parent-child interactions, oxytocin normalised and remained high during social contact. Fifteen. minutes after contact, oxytocin fell to baseline. Oxytocin correlated with parent-child social synchrony in both groups.
Conclusions Oxytocin dysfunction in ASD is observed in early childhood. The quick improvement in oxytocin production following parent-child contact underscores the malleability of the system and charts future directions for attachment-based behavioural and pharmacological interventions.
C1 [Feldman, Ruth; Golan, Ofer; Hirschler-Guttenberg, Yael; Ostfeld-Etzion, Sharon; Zagoory-Sharon, Orna] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
[Feldman, Ruth; Golan, Ofer; Hirschler-Guttenberg, Yael; Ostfeld-Etzion, Sharon; Zagoory-Sharon, Orna] Bar Ilan Univ, Gonda Brain Sci Ctr, IL-52900 Ramat Gan, Israel.
RP Feldman, R (reprint author), Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
EM feldman@mail.biu.ac.il
FU German-Israeli Science Foundation [1114-101.4/2010]; Irving B. Harris
Foundation; US-Israeli Bi-National Science Foundation; Association for
Children at Risk, Israel
FX The study was supported by the German-Israeli Science Foundation
(1114-101.4/2010), the Irving B. Harris Foundation, the US-Israeli
Bi-National Science Foundation, and the Association for Children at
Risk, Israel.
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NR 28
TC 1
Z9 1
PU ROYAL COLLEGE OF PSYCHIATRISTS
PI LONDON
PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG,
ENGLAND
SN 0007-1250
EI 1472-1465
J9 BRIT J PSYCHIAT
JI Br. J. Psychiatry
PD AUG
PY 2014
VL 205
IS 2
BP 107
EP 112
DI 10.1192/bjp.bp.113.137513
PG 6
WC Psychiatry
SC Psychiatry
GA AM7CR
UT WOS:000340022800007
PM 24855128
ER
PT J
AU Camarena, V
Cao, L
Abad, C
Abrams, A
Toledo, Y
Araki, K
Araki, M
Walz, K
Young, JI
AF Camarena, Vladimir
Cao, Lei
Abad, Clemer
Abrams, Alexander
Toledo, Yaima
Araki, Kimi
Araki, Masatake
Walz, Katherina
Young, Juan I.
TI Disruption of Mbd5 in mice causes neuronal functional deficits and
neurobehavioral abnormalities consistent with 2q23.1 microdeletion
syndrome
SO EMBO MOLECULAR MEDICINE
LA English
DT Article
DE autistic disorder; intellectual disability; MBD5; mouse model
ID IMPAIRED SOCIAL-INTERACTION; AUTISM SPECTRUM DISORDER; INTELLECTUAL
DISABILITY; DEVELOPMENTAL DELAY; BINDING DOMAIN; MOUSE MODELS; GENE;
FEATURES; MUTATIONS; IDENTIFICATION
AB 2q23.1 microdeletion syndrome is characterized by intellectual disability, motor delay, autistic-like behaviors, and a distinctive craniofacial phenotype. All patients carry a partial or total deletion of methyl-CpG-binding domain protein 5 (MBD5), suggesting that haploinsufficiency of this gene is responsible for the phenotype. To confirm this hypothesis and to examine the role of MBD5 in vivo, we have generated and characterized an Mbd5 gene-trap mouse model. Our study indicates that the Mbd5(+/GT) mouse model recapitulates most of the hallmark phenotypes observed in 2q23.1 deletion carriers including abnormal social behavior, cognitive impairment, and motor and craniofacial abnormalities. In addition, neuronal cultures uncovered a deficiency in neurite outgrowth. These findings support a causal role of MBD5 in 2q23.1 microdeletion syndrome and suggest a role for MBD5 in neuronal processes. The Mbd5(+/GT) mouse model will advance our understanding of the abnormal brain development underlying the emergence of 2q23.1 deletion-associated behavioral and cognitive symptoms.
C1 [Camarena, Vladimir; Cao, Lei; Abrams, Alexander; Toledo, Yaima; Walz, Katherina; Young, Juan I.] Univ Miami, Dept Human Genet, John T Macdonald Fdn, Miami, FL USA.
[Abad, Clemer; Walz, Katherina; Young, Juan I.] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA.
[Araki, Kimi; Araki, Masatake] Kumamoto Univ, Inst Resource Dev & Anal, Kumamoto, Japan.
RP Young, JI (reprint author), Univ Miami, Dept Human Genet, John T Macdonald Fdn, Miami, FL USA.
EM jyoung3@med.miami.edu
FU Le Jerome Lejeune Foundation
FX We thank Alison Castle for technical assistance. This study was
supported in part by Le Jerome Lejeune Foundation.
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NR 35
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1757-4676
EI 1757-4684
J9 EMBO MOL MED
JI EMBO Mol. Med.
PD AUG
PY 2014
VL 6
IS 8
BP 1003
EP 1015
DI 10.15252/emmm.201404044
PG 13
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AN2LN
UT WOS:000340416800003
PM 25001218
ER
PT J
AU Busquets-Garcia, A
Maldonado, R
Ozaita, A
AF Busquets-Garcia, Arnau
Maldonado, Rafael
Ozaita, Andres
TI New insights into the molecular pathophysiology of fragile X syndrome
and therapeutic perspectives from the animal model
SO INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
LA English
DT Article
DE Autism; Fragile X syndrome; mGluR5; Mammalian target of rapamycin
(mTOR); Endocannabinoid system; CB1 cannabinoid receptor; Intellectual
disability; Anxiety; Epilepsy; Nociception
ID MENTAL-RETARDATION PROTEIN; LONG-TERM POTENTIATION; FMR1 KNOCKOUT MICE;
GLYCOGEN-SYNTHASE KINASE-3; SELF-INJURIOUS-BEHAVIOR; MOUSE MODEL;
SYNAPTIC PLASTICITY; NEURODEVELOPMENTAL DISORDERS; ENDOCANNABINOID
SYSTEM; AUDIOGENIC-SEIZURES
AB Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. The recent advances in the understanding of the pathophysiological mechanisms involved have opened novel potential therapeutic approaches identified in preclinical rodent models as a necessary preliminary step for the subsequent evaluation in patients. Among those possible therapeutic approaches, the modulation of the metabotropic glutamate receptor signaling or the GABA receptor signaling have focused most of the attention. New findings in the animal models open other possible therapeutic approaches such as the mammalian target of rapamycin signaling pathway or the endocannabinoid system. This review summarizes the emerging data recently obtained in preclinical models of fragile X syndrome supporting these new therapeutic perspectives. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Busquets-Garcia, Arnau; Maldonado, Rafael; Ozaita, Andres] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona 08003, Spain.
RP Ozaita, A (reprint author), Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Lab Neurofarmacol, Parc Recerca Biomed Barcelona, Barcelona 08003, Spain.
EM andres.ozaita@upf.edu
RI Maldonado, Rafael/F-5657-2014
OI Maldonado, Rafael/0000-0002-4359-8773
FU Ministerio de Educacion y Cultura; "Investments for the future"
Programme IdEx Bordeaux, French National Research Agency
[ANR-10-IDEX-03-02]; FRAXA Research Foundation; Jerome Lejeune
Foundation; Ministerio de Ciencia e Innovacion [BFU2012-33500,
SAF2011-29864]; Instituto de Salud Carlos III [RD06/0001/0001]; PLANE
(Plan Espanol para el Estimulo de la Economia y el Empleo); Generalitat
de Catalunya [SGR-2009-00731]; ICREA (Institucio Catalana de Recerca i
Estudis Avancats) Academia
FX AB-G was recipient of a predoctoral fellowship (Ministerio de Educacion
y Cultura) and supported by "Investments for the future" Programme IdEx
Bordeaux (ANR-10-IDEX-03-02, French National Research Agency). Related
research on the subject was supported by grants from FRAXA Research
Foundation (A.O.), Jerome Lejeune Foundation (A.O.), Ministerio de
Ciencia e Innovacion (#BFU2012-33500 to A.O., #SAF2011-29864 to R.M.);
Instituto de Salud Carlos III (RD06/0001/0001 to R.M.); PLANE (Plan
Espanol para el Estimulo de la Economia y el Empleo); Generalitat de
Catalunya (SGR-2009-00731 to R.M.); ICREA (Institucio Catalana de
Recerca i Estudis Avancats) Academia to R.M.
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NR 102
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 1357-2725
EI 1878-5875
J9 INT J BIOCHEM CELL B
JI Int. J. Biochem. Cell Biol.
PD AUG
PY 2014
VL 53
BP 121
EP 126
DI 10.1016/j.biocel.2014.05.004
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN1KE
UT WOS:000340340400015
PM 24831882
ER
PT J
AU Wei, HG
Alberts, I
Li, XH
AF Wei, Hongen
Alberts, Ian
Li, Xiaohong
TI The apoptotic perspective of autism
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism; Apoptosis; Protein; Signaling pathway; Mechanism
ID PROGRAMMED CELL-DEATH; HEPATOCYTE GROWTH-FACTOR; MET TYROSINE KINASE;
SPECTRUM DISORDERS; MENTAL-RETARDATION; OXIDATIVE STRESS; C-MET;
NEURONAL APOPTOSIS; SIGNALING PATHWAY; INFANTILE-AUTISM
AB Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive behavior and restricted interests. The normal brain development during fetal brain development and the first year of life is critical to the behaviors and cognitions in adulthood. Programmed cell death (apoptosis) is an important mechanism that determines the size and shape of the brain and regulates the proper wiring of developing neuronal networks. Pathological activation of apoptotic death pathways under pathological conditions may lead to neuroanatomic abnormalities and possibly to developmental disabilities. It has been demonstrated a possible association between neural cell death and autism. Here, the abnormal apoptosis found in autism from postmortem and animal studies was reviewed and the possible mechanism was discussed. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Wei, Hongen] Shanxi Med Univ, Shanxi Prov Peoples Hosp, Cent Lab, Taiyuan 030012, Peoples R China.
[Alberts, Ian] CUNY, LaGuardia CC, Dept Nat Sci, New York, NY 11101 USA.
[Li, Xiaohong] NY State Inst Basic Res Dev Disabil, Dept Neurochem, New York, NY 10314 USA.
RP Wei, HG (reprint author), Shanxi Med Univ, Shanxi Prov Peoples Hosp, Cent Lab, 29 Shuangta Rd, Taiyuan 030012, Peoples R China.
EM hongenwei@gmail.com
FU National Natural Science Foundation of China [81201061]; Shanxi
Scholarship Council of China [2013-124]; Natural Science Foundation of
Shanxi [2013021036-2]
FX This work was supported by grants to H. Wei from the National Natural
Science Foundation of China (No. 81201061), Shanxi Scholarship Council
of China (No. 2013-124) and Natural Science Foundation of Shanxi (No.
2013021036-2).
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NR 91
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD AUG
PY 2014
VL 36
BP 13
EP 18
DI 10.1016/j.ijdevneu.2014.04.004
PG 6
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AN1JW
UT WOS:000340339600003
PM 24798024
ER
PT J
AU Knoth, IS
Vannasing, P
Major, P
Michaud, JL
Lippe, S
AF Knoth, Inga Sophia
Vannasing, Phetsamone
Major, Philippe
Michaud, Jacques L.
Lippe, Sarah
TI Alterations of visual and auditory evoked potentials in fragile X
syndrome
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Fragile X syndrome; Intellectual disability; Autism; Sensory information
processing; Auditory evoked potential; Visual evoked potential
ID MENTAL-RETARDATION PROTEIN; ABERRANT BEHAVIOR; CHILDREN; AUTISM;
INHIBITION; MATURATION; DISORDERS; FIELDS; ADULTS; ALPHA
AB Background: Fragile X Syndrome (FXS) is the most common monogenic form of intellectual disability and one of the few known monogenic causes of autism. It is caused by a trinucleotide repeat expansion in the FMR1 ('Fragile X Mental Retardation 1') gene, which prevents expression of the 'Fragile X Mental Retardation Protein' (FMRP). In FXS, the absence of FMRP leads to altered structural and functional development of the synapse, while preventing activity-based synapse maturation and synaptic pruning, which are essential for normal brain development and cognitive development. Possible impairments in information processing can be non-invasively investigated using electrophysiology.
Methods: We compared auditory (AEP) and visual (VEP) evoked potentials in twelve adolescents and young adults (10-22 years) affected by FXS to healthy controls matched by chronological age (N = 12) and developmental age of cognitive functioning (N = 9; 5-7 years), using analysis of variance.
Results: In the visual modality, the N70 and N2 amplitude have been found increased in FXS in comparison. to the chronological, but not the developmental control group at occipital sites, whereas in the auditory modality N1, P2 and N2 amplitude as well as N2 latency have been found increased in FXS, relative to both chronological and developmental control groups at mid-central sites.
Conclusions: The AEP/VEP profile suggests disruptions in sensory processing specific to FXS that exceed immaturity of physiological activity. In addition, the auditory modality seems to be more affected than the visual modality. Results are discussed in light of possible underlying neuronal mechanisms, including deficits in synaptic pruning and neuronal inhibition that might account for a hyperreactive nervous system in FXS. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Knoth, Inga Sophia; Vannasing, Phetsamone; Major, Philippe; Michaud, Jacques L.; Lippe, Sarah] Univ Montreal, CHU Ste Justine, Mother & Child Univ Hosp Ctr, Res Ctr, Montreal, PQ H3T 1C5, Canada.
[Knoth, Inga Sophia; Lippe, Sarah] Univ Montreal, Dept Psychol, Montreal, PQ H3T 1C5, Canada.
[Knoth, Inga Sophia; Lippe, Sarah] Univ Montreal, Ctr Rech Neuropsychol & Cognit, Montreal, PQ H3T 1C5, Canada.
RP Knoth, IS (reprint author), Univ Montreal, CHU Ste Justine, Mother & Child Univ Hosp Ctr, Res Ctr, 3175 Chemin Cote St Catherine, Montreal, PQ H3T 1C5, Canada.
EM Inga.Knoth@umontreal.ca
FU Scottish Rite Charitable Foundation of Canada [12112]
FX This research was supported by a Scottish Rite Charitable Foundation of
Canada grant to Sarah Lippe 12112. We thank Domitille Malfait for
carrying out the neuropsychological evaluation of most of the patients
and Patricia Laniel and Maude Joannette for their help in the
acquisition of EEG data. We thank language editor J. Arthur White for
significantly revising the manuscript.
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Van der Molen MJW, 2012, CLIN NEUROPHYSIOL, V123, P1309, DOI 10.1016/j.clinph.2011.11.039
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Wechsler D, 1999, WECHSLER ABBREVIATED
Weiler IJ, 1999, AM J MED GENET, V83, P248, DOI 10.1002/(SICI)1096-8628(19990402)83:4<248::AID-AJMG3>3.0.CO;2-1
NR 40
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD AUG
PY 2014
VL 36
BP 90
EP 97
DI 10.1016/j.ijdevneu.2014.05.003
PG 8
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AN1JW
UT WOS:000340339600013
PM 24875778
ER
PT J
AU Gringras, P
Green, D
Wright, B
Rush, C
Sparrowhawk, M
Pratt, K
Allgar, V
Hooke, N
Moore, D
Zaiwalla, Z
Wiggs, L
AF Gringras, Paul
Green, Dido
Wright, Barry
Rush, Carla
Sparrowhawk, Masako
Pratt, Karen
Allgar, Victoria
Hooke, Naomi
Moore, Danielle
Zaiwalla, Zenobia
Wiggs, Luci
TI Weighted Blankets and Sleep in Autistic Children-A Randomized Controlled
Trial
SO PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; severe sleep problems; weighted blankets;
total sleep time; children
ID DISORDERS; MELATONIN
AB OBJECTIVE: To assess the effectiveness of a weighted-blanket intervention in treating severe sleep problems in children with autism spectrum disorder (ASD).
METHODS: This phase III trial was a randomized, placebo-controlled crossover design. Participants were aged between 5 years and 16 years 10 months, with a confirmed ASD diagnosis and severe sleep problems, refractory to community-based interventions. The interventions were either a commercially available weighted blanket or otherwise identical usual weight blanket (control), introduced at bedtime; each was used for a 2-week period before crossover to the other blanket. Primary outcome was total sleep time (TST) recorded by actigraphy over each 2-week period. Secondary outcomes included actigraphically recorded sleep-onset latency, sleep efficiency, assessments of child behavior, family functioning, and adverse events. Sleep was also measured by using parent-report diaries.
RESULTS: Seventy-three children were randomized and analysis conducted on 67 children who completed the study. Using objective measures, the weighted blanket, compared with the control blanket, did not increase TST as measured by actigraphy and adjusted for baseline TST. There were no group differences in any other objective or subjective measure of sleep, including behavioral outcomes. On subjective preference measures, parents and children favored the weighted blanket.
CONCLUSIONS: The use of a weighted blanket did not help children with ASD sleep for a longer period of time, fall asleep significantly faster, or wake less often. However, the weighted blanket was favored by children and parents, and blankets were well tolerated over this period.
C1 [Gringras, Paul; Rush, Carla; Pratt, Karen] St Thomas Hosp, Evelina Childrens Hosp, London SE1 7EH, England.
[Green, Dido] Oxford Brookes Univ, Ctr Rehabil, Oxford OX3 0BP, England.
[Sparrowhawk, Masako; Allgar, Victoria; Wiggs, Luci] Oxford Brookes Univ, Dept Psychol, Oxford OX3 0BP, England.
[Wright, Barry; Hooke, Naomi; Moore, Danielle] Lime Trees Child & Family Unit, York, N Yorkshire, England.
[Zaiwalla, Zenobia] John Radcliffe Hosp, Dept Clin Neurophysiol, Oxford OX3 9DU, England.
RP Gringras, P (reprint author), St Thomas Hosp, Evelina Childrens Hosp, Lambeth Palace Rd, London SE1 7EH, England.
EM paul.gringras@gstt.nhs.uk
FU Research Autism; Waterloo Foundation; Baily Thomas Charitable Foundation
FX Supported by Research Autism, the Waterloo Foundation, and the Baily
Thomas Charitable Foundation.
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Gringras P, 2012, BRIT MED J, V345, DOI 10.1136/bmj.e6664
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NR 27
TC 1
Z9 1
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD AUG
PY 2014
VL 134
IS 2
BP 298
EP 306
DI 10.1542/peds.2013-4285
PG 9
WC Pediatrics
SC Pediatrics
GA AN0HS
UT WOS:000340266000056
PM 25022743
ER
PT J
AU Dykens, EM
Fisher, MH
Taylor, JL
Lambert, W
Miodrag, N
AF Dykens, Elisabeth M.
Fisher, Marisa H.
Taylor, Julie Lounds
Lambert, Warren
Miodrag, Nancy
TI Reducing Distress in Mothers of Children With Autism and Other
Disabilities: A Randomized Trial
SO PEDIATRICS
LA English
DT Article
DE autism spectrum disorders; developmental disabilities; maternal stress
and mental health; mindfulness based stress reduction; positive
psychology
ID POSITIVE PSYCHOLOGY INTERVENTIONS; DEVELOPMENTAL-DISABILITIES; PARENTING
STRESS; DEPRESSIVE SYMPTOMS; BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITY;
MENTAL-HEALTH; METAANALYSIS; MINDFULNESS; VALIDATION
AB BACKGROUND: Compared with other parents, mothers of children with autism spectrum disorder or other neurodevelopmental disabilities experience more stress, illness, and psychiatric problems. Although the cumulative stress and disease burden of these mothers is exceptionally high, and associated with poorer outcomes in children, policies and practices primarily serve the identified child with disabilities.
METHODS: A total of 243 mothers of children with disabilities were consented and randomized into either Mindfulness-Based Stress Reduction (mindfulness practice) or Positive Adult Development (positive psychology practice). Well-trained, supervised peer mentors led 6 weeks of group treatments in 1.5-hour weekly sessions, assessing mothers 6 times before, during, and up to 6 months after treatment. Mothers had children with autism (65%) or other disabilities (35%). At baseline, 85% of this community sample had significantly elevated stress, 48% were clinically depressed, and 41% had anxiety disorders.
RESULTS: Using slopes-as-outcomes, mixed random effects models, both treatments led to significant reductions in stress, depression, and anxiety, and improved sleep and life satisfaction, with large effects in depression and anxiety. Mothers in Mindfulness-Based Stress Reduction versus Positive Adult Development had greater improvements in anxiety, depression, sleep, and well-being. Mothers of children with autism spectrum disorder improved less in anxiety, but did not otherwise differ from their counterparts.
CONCLUSIONS: Future studies are warranted on how trained mentors and professionals can address the unmet mental health needs of mothers of children with developmental disabilities. Doing so improves maternal wellbeing and furthers their long-term caregiving of children with complex developmental, physical, and behavioral needs.
C1 [Dykens, Elisabeth M.; Fisher, Marisa H.; Taylor, Julie Lounds; Lambert, Warren] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.; Fisher, Marisa H.; Taylor, Julie Lounds; Lambert, Warren] Vanderbilt Univ, Univ Ctr Excellence Dev Disabil, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Dept Psychol & Human Dev, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.; Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Miodrag, Nancy] Calif State Univ Northridge, Dept Child & Adolescent Dev, Northridge, CA 91330 USA.
RP Dykens, EM (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, 1 Magnolia Circle,Peabody Box 40, Nashville, TN 37203 USA.
EM Elisabeth.dykens@vanderbilt.edu
FU National Institutes of Health's (NIH) National Center for Complementary
and Alternative Medicine [5RC1AT005612]; NIH's Eunice Kennedy Shriver
National Institute of Child Health and Human Development [P30HD015052];
NIH's National Center for Advancing Translational Sciences
[UL1TR000445]; National Institute of Mental Health [K01MH92598];
National Institutes of Health (NIH)
FX Supported by the National Institutes of Health's (NIH) National Center
for Complementary and Alternative Medicine grant 5RC1AT005612 to the
first author, and used core research services provided by NIH's Eunice
Kennedy Shriver National Institute of Child Health and Human Development
grant P30HD015052 to the Vanderbilt Kennedy Center, and NIH's National
Center for Advancing Translational Sciences award UL1TR000445 to
Vanderbilt University. Dr Taylor's participation was supported by
K01MH92598, National Institute of Mental Health. Funded by the National
Institutes of Health (NIH).
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NR 53
TC 1
Z9 1
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD AUG
PY 2014
VL 134
IS 2
BP E454
EP E463
DI 10.1542/peds.2013-3164
PG 10
WC Pediatrics
SC Pediatrics
GA AN0HS
UT WOS:000340266000017
PM 25049350
ER
PT J
AU Cheak-Zamora, NC
Farmer, JE
Mayfield, WA
Clark, MJ
Marvin, AR
Law, JK
Law, PA
AF Cheak-Zamora, Nancy C.
Farmer, Janet E.
Mayfield, Wayne A.
Clark, Mary J.
Marvin, Alison R.
Law, J. Kiely
Law, Paul A.
TI Health Care Transition Services for Youth With Autism Spectrum Disorders
SO REHABILITATION PSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; adolescence; health care services; health care
transition
ID UNITED-STATES; NATIONAL-SURVEY; MEDICAL HOME; UNMET NEEDS; DSM-IV;
CHILDREN; ADOLESCENTS; FAMILY; PERSPECTIVES; INDIVIDUALS
AB Objective: Little is known about accessibility to health care transition (HCT) services (HCT) for youth with autism spectrum disorders (ASD). This study examined how often youth with ASD receive HCT services and how access varied by individual, family, and health system characteristics. Method: Questionnaires were completed by 101 parents of youth with ASD (ages 12-17 years) enrolled in a national online autism registry. Descriptive statistics and bivariate analysis were used to examine a composite HCT variable and its components. Results: Fewer than 15% of youth received HCT services. Although 41% received at least 1 HCT discussion, only 3% received all 3. One-quarter had a discussion with their health care provider about transitioning to an adult provider, adult health care needs, or insurance retention, and 31% of providers encouraged youth to take on more responsibilities. Most caregivers reported not needing 1 or more of the discussions. Results varied significantly when the sample was divided by age, with older youth more likely to have received transition services than younger adolescents. Conclusions: These findings indicate a significant disparity in access to HCT services for youth with ASD. Further research is needed to understand this disparity and develop interventions to improve HCT both for youth with ASD and those with other disabling health conditions. Additionally, many caregivers do not recognize the importance of HCT services. Education and training for caregivers, youth, and providers is essential to ensure all parties are working together to address transition issues early and often.
C1 [Cheak-Zamora, Nancy C.] Univ Missouri, Dept Hlth Sci, Columbia, MO 65211 USA.
[Farmer, Janet E.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mayfield, Wayne A.] Univ Missouri, Off Social & Econ Data Anal, Columbia, MO 65211 USA.
[Clark, Mary J.] Univ Missouri, Atkins Wellness Program, Columbia, MO 65211 USA.
[Marvin, Alison R.; Law, J. Kiely; Law, Paul A.] Kennedy Krieger Inst, Dept Med Informat, Baltimore, MD USA.
[Law, J. Kiely; Law, Paul A.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21218 USA.
RP Cheak-Zamora, NC (reprint author), Univ Missouri, 510 Clark Hall, Columbia, MO 65211 USA.
EM cheakzamoran@health.missouri.edu
CR American Academy of Pediatrics American Academy of Family Physicians American College of Physicians, 2011, PEDIATRICS, V128, P182, DOI DOI 10.1542/PEDS.2011-0969
American Psychiatric Association, 2013, DIAGN STAT MAN MENT, V5th
Autism Speaks, 2011, AUT SPEAKS RES GUID
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Carlson MJ, 2002, J BEHAV HEALTH SER R, V29, P481
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Child and Adolescent Health Measurement Initiative, 2012, NAT PROF CHILDR SPEC
Child and Adolescent Health Measurement Initiative, 2009, RES MAN CHILD HLTH P, P1
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NR 37
TC 0
Z9 0
PU EDUCATIONAL PUBLISHING FOUNDATION-AMERICAN PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST, NE, WASHINGTON, DC 20002-4242 USA
SN 0090-5550
EI 1939-1544
J9 REHABIL PSYCHOL
JI Rehabil. Psychol.
PD AUG
PY 2014
VL 59
IS 3
BP 340
EP 348
DI 10.1037/a0036725
PG 9
WC Psychology, Clinical; Rehabilitation
SC Psychology; Rehabilitation
GA AN2RH
UT WOS:000340432500011
PM 25019309
ER
PT J
AU Telias, M
Ben-Yosef, D
AF Telias, Michael
Ben-Yosef, Dalit
TI Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells
SO STEM CELL REVIEWS AND REPORTS
LA English
DT Article
DE Human pluripotent stem cells; Neurodevelopmental disorders; Disease
models; Neural differentiation; Electrophysiology
ID FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; PRADER-WILLI-SYNDROME;
LESCH-NYHAN-SYNDROME; PREIMPLANTATION GENETIC DIAGNOSIS; NEURAL
PROGENITOR CELLS; IPSC-DERIVED NEURONS; DOWN-SYNDROME; RETT-SYNDROME;
IN-VITRO
AB Neurodevelopmental disorders (NDs) are impairments that affect the development and growth of the brain and the central nervous system during embryonic and early postnatal life. Genetically manipulated animals have contributed greatly to the advancement of ND research, but many of them differ considerably from the human phenotype. Cellular in vitro models are also valuable, but the availability of human neuronal cells is limited and their lifespan in culture is short. Human pluripotent stem cells (hPSCs), including embryonic stem cells and induced pluripotent stem cells, comprise a powerful tool for studying developmentally regulated diseases, including NDs. We reviewed all recent studies in which hPSCs were used as in vitro models for diseases and syndromes characterized by impairment of neurogenesis or synaptogenesis leading to intellectual disability and delayed neurodevelopment. We analyzed their methodology and results, focusing on the data obtained following in vitro neural differentiation and gene expression and profiling of the derived neurons. Electrophysiological recording of action potentials, synaptic currents and response to neurotransmitters is pivotal for validation of the neuronal fate as well as for assessing phenotypic dysfunctions linked to the disease in question. We therefore focused on the studies which included electrophysiological recordings on the in vitro-derived neurons. Finally, we addressed specific issues that are critical for the advancement of this area of research, specifically in providing a reliable human pre-clinical research model and drug screening platform.
C1 [Telias, Michael; Ben-Yosef, Dalit] Tel Aviv Univ, Sackler Fac Med,Wolfe PGD Stem Cell Lab, Dept Cell & Dev Biol, Racine IVF Unit,Lis Matern Hosp, IL-69978 Tel Aviv, Israel.
RP Ben-Yosef, D (reprint author), Tel Aviv Univ, Sackler Fac Med,Wolfe PGD Stem Cell Lab, Dept Cell & Dev Biol, Racine IVF Unit,Lis Matern Hosp, IL-69978 Tel Aviv, Israel.
EM dalitb@tlvmc.gov.il
FU NNE-Teva scholarship; Tel-Aviv Medical Center
FX We thank Prof. Menahem Segal from the Department of Neurobiology at
Weizmann Institute of Science, and Dr. Mira Malcov and Dr. Yael Kalma
from the Wolfe PGD-Stem Cell Lab at Tel-Aviv Sourasky Medical Center,
for critical reading of the manuscript. Esther Eshkol is thanked for
editorial assistance. This study was supported by NNE-Teva scholarship
(M. Telias) and Tel-Aviv Medical Center (D. Ben-Yosef).
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NR 216
TC 2
Z9 2
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 1550-8943
EI 1558-6804
J9 STEM CELL REV REP
JI Stem Cell Rev. Rep.
PD AUG
PY 2014
VL 10
IS 4
BP 494
EP 511
DI 10.1007/s12015-014-9507-2
PG 18
WC Cell & Tissue Engineering; Cell Biology; Medicine, Research &
Experimental
SC Cell Biology; Research & Experimental Medicine
GA AN3SZ
UT WOS:000340510300005
PM 24728983
ER
PT J
AU Balestrieri, E
Pitzianti, M
Matteucci, C
D'Agati, E
Sorrentino, R
Baratta, A
Caterina, R
Zenobi, R
Curatolo, P
Garaci, E
Sinibaldi-Vallebona, P
Pasini, A
AF Balestrieri, Emanuela
Pitzianti, Mariabernarda
Matteucci, Claudia
D'Agati, Elisa
Sorrentino, Roberta
Baratta, Antonia
Caterina, Rosa
Zenobi, Rossella
Curatolo, Paolo
Garaci, Enrico
Sinibaldi-Vallebona, Paola
Pasini, Augusto
TI Human endogenous retroviruses and ADHD
SO WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Human endogenous retrovirus; HERV-H; ADHD; neurodevelopmental diseases;
peripheral blood mononuclear cells
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; RISK-FACTORS; AUTISM;
SCHIZOPHRENIA; PREVALENCE; CHILDREN; GENE; DISCORDANCE; COMORBIDITY;
SYMPTOMS
AB Objectives. Several lines of evidences suggest that human endogenous retroviruses (HERVs) are implicated in the development of many complex diseases with a multifactorial aetiology and a strong heritability, such as neurological and psychiatric diseases. Attention deficit hyperactivity Disorder (ADHD) is a neurodevelopmental disorder that results from a complex interaction of environmental, biological and genetic factors. Our aim was to analyse the expression levels of three HERV families (HERV-H, K and W) in patients with ADHD. Methods. The expression of retroviral mRNAs from the three HERV families was evaluated in peripheral blood mononuclear cells (PBMCs) from 30 patients with ADHD and 30 healthy controls by quantitative RT-PCR. Results. The expression levels of HERV-H are significantly higher in patients with ADHD compared to healthy controls, while there are no differences in the expression levels of HERV-K and W. Conclusions. Since the ADHD aetiology is due to a complex interaction of environmental, biological and genetic factors, HERVs may represent one link among these factors and clinical phenotype of ADHD. A future confirmation of HERV-H overexpression in a larger number of ADHD patients will make possible to identify it as a new parameter for this clinical condition, also contributing to deepen the study on the role of HERVs in the neurodevelopment diseases.
C1 [Balestrieri, Emanuela; Matteucci, Claudia; Sorrentino, Roberta; Zenobi, Rossella; Garaci, Enrico; Sinibaldi-Vallebona, Paola] Univ Roma Tor Vergata, Dept Expt Med & Surg, I-00133 Rome, Italy.
[Pitzianti, Mariabernarda; D'Agati, Elisa; Baratta, Antonia; Caterina, Rosa; Curatolo, Paolo; Pasini, Augusto] Univ Roma Tor Vergata, Unit Child Neurol & Psychiat, Dept Neurosci, I-00133 Rome, Italy.
RP Pasini, A (reprint author), Univ Roma Tor Vergata, Unit Child Neurol & Psychiat, Dept Neurosci, Viale Oxford 81, I-00133 Rome, Italy.
EM pasini@uniroma2.it
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NR 42
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1562-2975
EI 1814-1412
J9 WORLD J BIOL PSYCHIA
JI World J. Biol. Psychiatry
PD AUG
PY 2014
VL 15
IS 6
BP 499
EP 504
DI 10.3109/15622975.2013.862345
PG 6
WC Psychiatry
SC Psychiatry
GA AN3GM
UT WOS:000340473900009
PM 24286278
ER
PT J
AU von Morgenstern, SB
Becker, I
Sinzig, J
AF von Morgenstern, Sophie Beyer
Becker, Ingrid
Sinzig, Judith
TI Improvement of facial affect recognition in children and adolescents
with attention-deficit/hyperactivity disorder under methylphenidate
SO ACTA NEUROPSYCHIATRICA
LA English
DT Article
DE ADHD; affect recognition; facial affect recognition; methylphenidate
ID DEFICIT HYPERACTIVITY DISORDER; HIGH-FUNCTIONING ADULTS; EMOTIONAL
EXPRESSIONS; ENDOPHENOTYPE CONCEPT; ADHD; DOPAMINE; AUTISM; MIND; GENE;
PREVALENCE
AB Introduction and Hypothesis: Some authors draw a connection between the dopaminergic pathways and emotional perception. The present study is based on that association and addresses the question whether methylphenidate and the resulting amelioration of the disturbed dopamine metabolism lead to an improvement of the facial affect recognition abilities in children with attention-deficit/hyperactivity disorder (ADHD).
Methods: A computer test was conducted on 21 participants, aged 7-14 years and with a diagnosis of ADHD - some with comorbid oppositional defiant disorder - conducted the FEFA (Frankfurt Test and Training of Facial Affect), a computer test to examine their facial affect recognition abilities. It consists of two subtests, one with faces and one with eye pairs. All participants were tested in a double-blind cross-over study, once under placebo and once under methylphenidate.
Results and Discussion: The collected data showed that methylphenidate leads to amelioration of facial affect recognition abilities, but not on a significant level. Reasons for missing significance may be the small sample size or the fact that there exists some overlapping in cerebral connections and metabolic pathways of the site of action of methylphenidate and the affected dopaminergic areas in ADHD. However, consistent with the endophenotype concept, certain gene locations of the dopaminergic metabolism as both an aetiological factor for ADHD and the deficient facial affect recognition abilities with these individuals were considered. Consulting current literature they were found to be not concordant. Therefore, we conclude that the lacking significance of the methylphenidate affect on facial affect recognition is based on this fact.
C1 [von Morgenstern, Sophie Beyer] Childrens Hosp Dritter Orden, Dept Paediat Surg, Munich, Germany.
[Becker, Ingrid] Univ Cologne, Inst Med Stat Informat & Epidemiol, Munich, Germany.
[Sinzig, Judith] LVR Hosp Bonn, Dept Child & Adolescent Psychiat & Psychotherapy, Bonn, Germany.
RP von Morgenstern, SB (reprint author), Univ Cologne, Dept Child & Adolescent Psychiat & Psychotherapy, Munich, Germany.
EM sophiemorgenstern@hotmail.com
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NR 35
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1601-5215
J9 ACTA NEUROPSYCHIATR
JI Acta Neuropsychiatr.
PD AUG
PY 2014
VL 26
IS 4
BP 202
EP 208
DI 10.1017/neu.2013.55
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AM8DR
UT WOS:000340101300002
ER
PT J
AU Kyriakopoulou, V
Vatansever, D
Elkommos, S
Dawson, S
McGuinness, A
Allsop, J
Molnar, Z
Hajnal, J
Rutherford, M
AF Kyriakopoulou, Vanessa
Vatansever, Deniz
Elkommos, Samia
Dawson, Sarah
McGuinness, Amy
Allsop, Joanna
Molnar, Zoltan
Hajnal, Joseph
Rutherford, Mary
TI Cortical Overgrowth in Fetuses With Isolated Ventriculomegaly
SO CEREBRAL CORTEX
LA English
DT Article
DE brain; development; magnetic resonance imaging
ID PROGRAMMED CELL-DEATH; IN-UTERO; BRAIN-DEVELOPMENT; GROWTH-PATTERNS;
HUMAN NEOCORTEX; FETAL; CHILDREN; AUTISM; CORTEX; VOLUME
AB Mild cerebral ventricular enlargement is associated with schizophrenia, autism, epilepsy, and attention-deficit/hyperactivity disorder. Fetal ventriculomegaly is the most common central nervous system (CNS) abnormality affecting 1% of fetuses and is associated with cognitive, language, and behavioral impairments in childhood. Neurodevelopmental outcome is partially predictable by the 2-dimensional size of the ventricles in the absence of other abnormalities. We hypothesized that isolated fetal ventriculomegaly is a marker of altered brain development characterized by relative overgrowth and aimed to quantify brain growth using volumetric magnetic resonance imaging (MRI) in fetuses with isolated ventriculomegaly. Fetal brain MRI (1.5 T) was performed in 60 normal fetuses and 65 with isolated ventriculomegaly, across a gestational age range of 22-38 weeks. Volumetric analysis of the ventricles and supratentorial brain structures was performed on 3-dimensional reconstructed datasets. Fetuses with isolated ventriculomegaly had increased brain parenchyma volumes when compared with the control cohort (9.6%, P < 0.0001) with enlargement restricted to the cortical gray matter (17.2%, P = 0.002). The extracerebral cerebrospinal fluid and third and fourth ventricles were also enlarged. White matter, basal ganglia, and thalamic volumes were not significantly different between cohorts. The presence of relative cortical overgrowth in fetuses with ventriculomegaly may represent the neurobiological substrate for cognitive, language, and behavioral deficits in these children.
C1 [Kyriakopoulou, Vanessa; Allsop, Joanna; Hajnal, Joseph; Rutherford, Mary] Kings Coll London, St Thomas Hosp, Ctr Developing Brain Perinatal Imaging & Hlth, London SE1 7EH, England.
[Kyriakopoulou, Vanessa; Vatansever, Deniz; Elkommos, Samia; Dawson, Sarah; McGuinness, Amy; Allsop, Joanna; Hajnal, Joseph; Rutherford, Mary] Kings Coll London, Hammersmith Hosp, Ctr Developing Brain, London SE1 7EH, England.
[Molnar, Zoltan] Univ Oxford, Dept Physiol Anat & Genet, Oxford, England.
RP Rutherford, M (reprint author), Kings Coll London, St Thomas Hosp, Ctr Developing Brain Perinatal Imaging & Hlth, 1st Floor South Wing, London SE1 7EH, England.
EM mary.rutherford@kcl.ac.uk
FU Medical Research Council (UK); Biomedical Research Centre
FX This work was supported by the Medical Research Council (UK) and the
Biomedical Research Centre.
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NR 47
TC 1
Z9 1
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD AUG
PY 2014
VL 24
IS 8
BP 2141
EP 2150
DI 10.1093/cercor/bht062
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AM7SL
UT WOS:000340068500015
PM 23508710
ER
PT J
AU Spotorno, N
Noveck, IA
AF Spotorno, Nicola
Noveck, Ira A.
TI When Is Irony Effortful?
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL
LA English
DT Article
DE attitude ascription; language processing; mindreading
ID SPECTRUM QUOTIENT AQ; AUTISM; MIND; METAANALYSIS; COGNITION; CONTEXT;
SAMPLE; BRAIN; SAID
AB Whereas some studies indicate that ironic- as opposed to literal - readings of utterances take longer to process, others indicate that the 2 are processed at comparable speeds. We propose that mindreading processes are at least partly responsible for the mixed results, as we present 3 experiments that include stories having a target utterance with either an Ironic or Literal reading. Experiment 1 replicates earlier findings (Spotorno, Koun, Prado, Van Der Henst, & Noveck, 2012) showing that ironic readings take longer than literal ones when fillers include decoys, stories that call for an ironic remark but present a banal utterance instead and thus diffuse participants' expectations for irony. Starting with Experiment 2, decoys are removed, leading to effects that are arguably revealing of Theory of Mind processes. One is an Early-Late effect, which occurs when ironic utterances are read as readily as literal ones in the 2nd half of an experimental session, creating "mixed" results in the laboratory. In Experiment 3, we further added antecedents before a critical event so that, later, the target utterance would be echoing an explicitly stated thought and would facilitate irony comprehension (Gibbs, 1986; Sperber & Wilson, 1981). Results reveal an Early-Late effect here, too. Further evidence of Theory of Mind activity follows from analyses of participants' Social Skill subscale scores in the Autism-Spectrum Quotient (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001). Socially inclined participants are more likely than the socially disinclined to use a story's negative event to portend the arrival of an irony; in contrast, socially disinclined participants appear more reactive than the socially inclined to explicit antecedents.
C1 [Spotorno, Nicola; Noveck, Ira A.] Univ Lyon 1, CNRS, L2C2, F-69622 Villeurbanne, France.
[Noveck, Ira A.] CRFJ, Jerusalem, Israel.
RP Spotorno, N (reprint author), Univ Penn, Perelman Sch Med, Penn Frontotemporal Degenerat Ctr, 3 West Gates,3400 Spruce St, Philadelphia, PA 19104 USA.
EM spotorno@mail.med.upenn.edu
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NR 47
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-3445
EI 1939-2222
J9 J EXP PSYCHOL GEN
JI J. Exp. Psychol.-Gen.
PD AUG
PY 2014
VL 143
IS 4
BP 1649
EP 1665
DI 10.1037/a0036630
PG 17
WC Psychology, Experimental
SC Psychology
GA AN0TF
UT WOS:000340296200017
PM 24773194
ER
PT J
AU Green, S
Caplan, B
Baker, B
AF Green, S.
Caplan, B.
Baker, B.
TI Maternal supportive and interfering control as predictors of adaptive
and social development in children with and without developmental delays
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE control; developmental disabilities; interference; parenting
ID BEHAVIOR PROBLEMS; YOUNG-CHILDREN; INTELLECTUAL DISABILITY; PARENTING
STRESS; COMPETENCE; DIRECTIVENESS; LANGUAGE; INFANTS; MOTHERS; AUTISM
AB Background Parents of children with developmental delays (DD) have been found to use more controlling behaviour with their children than parents of children with typical development (TD). While controlling behaviour is related to poorer developmental outcomes in TD children, there is little research on how it predicts outcomes in DD children. Furthermore, existing research tends to use inconsistent or non-specific definitions of controlling behaviour, often combining parent control which follows the child's goal (e. g. supportive direction) and that which interferes with the child's goal (e. g. interference).
Methods Participants were 200 mother-child dyads observed at child age 3, with follow-up assessments of adaptive behaviour and social skills administered at child ages 5 and 6, respectively. We coded the frequency of both types of controlling behaviour based on mothers' interactions with their children with TD (n = 113) or DD (n = 87) at age 3.
Results Mothers in the DD group used more interfering but not more supportive directive acts compared to mothers in the TD group. Adaptive behaviour was assessed at child age 5 and social skills were assessed at age 6. Higher frequency of supportive directive acts predicted better adaptive functioning for the TD group and better social skills for the DD group. Higher frequency of interfering acts predicted lower adaptive and social skills for children with DD but not with TD.
Conclusions Results are discussed in terms of the differential developmental needs of children with and without DD as well as implications for early intervention.
C1 [Green, S.; Caplan, B.; Baker, B.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90025 USA.
RP Green, S (reprint author), Univ Calif Los Angeles, Los Angeles, CA 90025 USA.
EM shulamite@ucla.edu
CR Achenbach T. M., 2000, MANUAL CHILD BEHAV C
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NR 46
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD AUG
PY 2014
VL 58
IS 8
BP 691
EP 703
DI 10.1111/jir.12064
PG 13
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AM7ZI
UT WOS:000340087100001
PM 23865770
ER
PT J
AU Janes, E
Riby, DM
Rodgers, J
AF Janes, E.
Riby, D. M.
Rodgers, J.
TI Exploring the prevalence and phenomenology of repetitive behaviours and
abnormal sensory processing in children with Williams Syndrome
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE repetitive and restricted behaviours; sensory processing abnormalities;
Williams Syndrome
ID AUTISM SPECTRUM DISORDERS; HYPERACUSIS; INTERVIEW; PHENOTYPE; ANXIETY;
ADULTS; FEARS
AB Background A small amount of research with individuals who have Williams Syndrome (WS) suggests that children with the condition may be vulnerable to sensory processing abnormalities and present with repetitive and restricted behaviours.
Methods Parents of 21 children with WS aged 6-15 years completed a semi-structured interview designed to elicit the form, frequency, impact and developmental course of a range of sensory processing abnormalities and repetitive behaviours.
Results Findings indicate that sensory processing difficulties are predominantly characterised by hypersensitivities, particularly in relation to vestibular, auditory, gustatory and proprioceptive functioning. Parents also reported the presence of a range of restricted and repetitive behaviours, which were often associated with their child's sensory symptoms.
Conclusions This study makes a significant contribution to our understanding of sensory functioning and repetitive behaviours in WS. It also highlights the need for a multidisciplinary assessment of the difficulties experienced by children with the disorder.
C1 [Janes, E.; Rodgers, J.] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Riby, D. M.] Univ Durham, Sch Psychol, Durham, Tyne & Wear, England.
RP Rodgers, J (reprint author), Newcastle Univ, Inst Neurosci, Ridley Bldg, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM jacqui.rodgers@newcastle.ac.uk
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NR 33
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD AUG
PY 2014
VL 58
IS 8
BP 746
EP 757
DI 10.1111/jir.12086
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AM7ZI
UT WOS:000340087100005
PM 23962322
ER
PT J
AU Jamal, W
Das, S
Oprescu, IA
Maharatna, K
Apicella, F
Sicca, F
AF Jamal, Wasifa
Das, Saptarshi
Oprescu, Ioana-Anastasia
Maharatna, Koushik
Apicella, Fabio
Sicca, Federico
TI Classification of autism spectrum disorder using supervised learning of
brain connectivity measures extracted from synchrostates
SO JOURNAL OF NEURAL ENGINEERING
LA English
DT Article
DE autism spectrum disorder (ASD); brain connectivity; complex network;
classification; synchrostate
ID SMALL-WORLD NETWORKS; HEAD CIRCUMFERENCE; EEG; SYNCHRONIZATION; CORTEX
AB Objective. The paper investigates the presence of autism using the functional brain connectivity measures derived from electro-encephalogram (EEG) of children during face perception tasks. Approach. Phase synchronized patterns from 128-channel EEG signals are obtained for typical children and children with autism spectrum disorder (ASD). The phase synchronized states or synchrostates temporally switch amongst themselves as an underlying process for the completion of a particular cognitive task. We used 12 subjects in each group (ASD and typical) for analyzing their EEG while processing fearful, happy and neutral faces. The minimal and maximally occurring synchrostates for each subject are chosen for extraction of brain connectivity features, which are used for classification between these two groups of subjects. Among different supervised learning techniques, we here explored the discriminant analysis and support vector machine both with polynomial kernels for the classification task. Main results. The leave one out cross-validation of the classification algorithm gives 94.7% accuracy as the best performance with corresponding sensitivity and specificity values as 85.7% and 100% respectively. Significance. The proposed method gives high classification accuracies and outperforms other contemporary research results. The effectiveness of the proposed method for classification of autistic and typical children suggests the possibility of using it on a larger population to validate it for clinical practice.
C1 [Jamal, Wasifa; Das, Saptarshi; Oprescu, Ioana-Anastasia; Maharatna, Koushik] Univ Southampton, Sch Elect & Comp Sci, Southampton SO17 1BJ, Hants, England.
[Apicella, Fabio; Sicca, Federico] IRCCS Stella Maris Fdn, Pisa, Calambrone, Italy.
RP Jamal, W (reprint author), Univ Southampton, Sch Elect & Comp Sci, Southampton SO17 1BJ, Hants, England.
EM wj4g08@ecs.soton.ac.uk; sd2a11@ecs.soton.ac.uk; io1g10@ecs.soton.ac.uk;
km3@ecs.soton.ac.uk; fabio.apicella@fsm.unipi.it; fsicca@fsm.unipi.it
FU EU - MICHELANGELO project [288241]
FX The work presented in this paper was supported by FP7 EU funded
MICHELANGELO project, Grant Agreement #288241. URL:
www.michelangelo-project.eu/. We are grateful to Professor Filippo
Muratori for his valuable suggestions on this paper.
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NR 50
TC 1
Z9 1
PU IOP PUBLISHING LTD
PI BRISTOL
PA TEMPLE CIRCUS, TEMPLE WAY, BRISTOL BS1 6BE, ENGLAND
SN 1741-2560
EI 1741-2552
J9 J NEURAL ENG
JI J. Neural Eng.
PD AUG
PY 2014
VL 11
IS 4
AR 046019
DI 10.1088/1741-2560/11/4/046019
PG 19
WC Engineering, Biomedical; Neurosciences
SC Engineering; Neurosciences & Neurology
GA AM7KS
UT WOS:000340046500019
PM 24981017
ER
PT J
AU Dalrymple, KA
Fletcher, K
Corrow, S
das Nair, R
Barton, JJS
Yonas, A
Duchaine, B
AF Dalrymple, Kirsten A.
Fletcher, Kimberley
Corrow, Sherryse
das Nair, Roshan
Barton, Jason J. S.
Yonas, Albert
Duchaine, Brad
TI "A room full of strangers every day": The psychosocial impact of
developmental prosopagnosia on children and their families
SO JOURNAL OF PSYCHOSOMATIC RESEARCH
LA English
DT Article
DE Children; Developmental prosopagnosia; Face recognition; Psychosocial;
Social development; Thematic analysis
ID AUTISM-SPECTRUM QUOTIENT; CONGENITAL PROSOPAGNOSIA; FACE RECOGNITION;
VERSION
AB Objective: Individuals with developmental prosopagnosia ('face blindness') have severe face recognition difficulties due to a failure to develop the necessary visual mechanisms for recognizing faces. These difficulties occur in the absence of brain damage and despite normal low-level vision and intellect. Adults with developmental prosopagnosia report serious personal and emotional consequences from their inability to recognize faces, but little is known about the psychosocial consequences in childhood. Given the importance of face recognition in daily life, and the potential for unique social consequences of impaired face recognition in childhood, we sought to evaluate the impact of developmental prosopagnosia on children and their families.
Methods: We conducted semi-structured interviews with 8 children with developmental prosopagnosia and their parents. A battery of face recognition tests was used to confirm the face recognition impairment reported by the parents of each child. We used thematic analysis to develop common themes among the psychosocial experiences of the children and their parents.
Results: Three themes were developed from the child reports: 1) awareness of their difficulties, 2) coping strategies, such as using non-facial cues to identify others, and 3) social implications, such as discomfort in, and avoidance of, social situations. These themes were paralleled by the parent reports and highlight the unique social and practical challenges associated with childhood developmental prosopagnosia.
Conclusion: Our findings indicate a need for increased awareness and treatment of developmental prosopagnosia to help these children manage their face recognition difficulties and to promote their social and emotional wellbeing. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Dalrymple, Kirsten A.; Duchaine, Brad] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
[Dalrymple, Kirsten A.] UCL, Inst Cognit Neurosci, London, England.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Med Neurol, Vancouver, BC V5Z 1M9, Canada.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Ophthalmol & Visual Sci, Vancouver, BC V5Z 1M9, Canada.
[Fletcher, Kimberley; Barton, Jason J. S.] Univ British Columbia, Dept Psychol, Vancouver, BC V5Z 1M9, Canada.
[Corrow, Sherryse; Yonas, Albert] Univ Minnesota, Inst Child Dev, Minneapolis, MN 55455 USA.
[das Nair, Roshan] Univ Nottingham, Div Rehabil & Ageing, Nottingham NG7 2RD, England.
RP Dalrymple, KA (reprint author), Univ Minnesota, Inst Child Dev, 51 East River Pkwy, Minneapolis, MN 55455 USA.
EM kad@umn.edu
RI Barton, Jason/A-6362-2012
FU Economic and Social Research Council (UK) [RES-062-23-2426]; CIHR
operating grant [MOP-102567]; Eva O. Miller Fellowship; Doctoral
Dissertation Fellowship through the graduate school of the University of
Minnesota; Canada Research Chair grant [950-228984]; Marianne Koerner
Chair in Brain Diseases
FX KAD and BD were supported by an Economic and Social Research Council
(UK) grant (RES-062-23-2426) to BD. KF was supported through a CIHR
operating grant (MOP-102567) to JJSB. SC was supported by the Eva O.
Miller Fellowship and the Doctoral Dissertation Fellowship through the
graduate school of the University of Minnesota. JJSB was supported by a
Canada Research Chair grant (950-228984) and the Marianne Koerner Chair
in Brain Diseases. We would like to thank all the children and families
for their candid responses to our interview questions and for inviting
us into their homes for lengthy assessments.
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NR 26
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3999
EI 1879-1360
J9 J PSYCHOSOM RES
JI J. Psychosomat. Res.
PD AUG
PY 2014
VL 77
IS 2
BP 144
EP 150
DI 10.1016/j.jpsychores.2014.06.001
PG 7
WC Psychiatry
SC Psychiatry
GA AM6YQ
UT WOS:000340012300010
PM 25077856
ER
PT J
AU Larsen, CA
Howard, MT
AF Larsen, C. Aaron
Howard, Michael T.
TI Conserved regions of the DMD 3 ' UTR regulate translation and mRNA
abundance in cultured myotubes
SO NEUROMUSCULAR DISORDERS
LA English
DT Article
DE DMD; Duchenne muscular dystrophy; 3' UTR; 5' UTR; Translational control
ID DUCHENNE MUSCULAR-DYSTROPHY; AUTISM SPECTRUM DISORDER; AUG INITIATOR
CODON; SKELETAL-MUSCLES; UNTRANSLATED REGION; MDX MICE; GLYCOPROTEIN
COMPLEX; MAMMALIAN-CELLS; GENE-EXPRESSION; NONCODING RNAS
AB Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease, is caused by mutations in the DMD gene, which encodes for the protein dystrophin. Its regulation is of therapeutic interest as even small changes in expression of functional dystrophin can significantly impact the severity of DMD. While tissue-specific distribution and transcriptional regulation of several DMD mRNA isoforms has been well characterized, the post-transcriptional regulation of dystrophin synthesis is not well understood. Here, we utilize qRTPCR and a quantitative dual-luciferase reporter assay to examine the effects of isoform specific DMD 5' UTRs and the highly conserved DMD 3' UTR on mRNA abundance and translational control of gene expression in C2C12 cells. The 5' UTRs were shown to initiate translation with low efficiency in both myoblasts and myotubes. Whereas, two large highly conserved elements in the 3' UTR, which overlap the previously described Lemaire A and D regions, increase mRNA levels and enhance translation upon differentiation of myoblasts into myotubes. The results presented here implicate an important role for DMD UTRs in dystrophin expression and delineate the cis-acting elements required for the myotube-specific regulation of steady-state mRNA levels and translational enhancer activity found in the DMD 3' UTR. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Larsen, C. Aaron; Howard, Michael T.] Univ Utah, Dept Human Genet, Salt Lake City, UT USA.
RP Howard, MT (reprint author), Eccles Inst Human Genet, Room 7110,15 N 2030 East, Salt Lake City, UT 84112 USA.
EM mhoward@genetics.utah.edu
FU National Institutes of Health [NS083884]
FX We thank Chris Anderson and Norma Wills for technical assistance, and
Drs. Kevin Flanigan (Ohio State University) and Robert Weiss (University
of Utah) for comments and suggestions on this work. This work was
supported in part by the National Institutes of Health NS083884 to MTH.
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NR 78
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0960-8966
EI 1873-2364
J9 NEUROMUSCULAR DISORD
JI Neuromusc. Disord.
PD AUG
PY 2014
VL 24
IS 8
BP 693
EP 706
DI 10.1016/j.nmd.2014.05.006
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AN1BH
UT WOS:000340317200007
PM 24928536
ER
PT J
AU Tansey, KE
Rucker, JJH
Kavanagh, DH
Guipponi, M
Perroud, N
Bondolfi, G
Domenici, E
Evans, DM
Hausers, J
Henigsberg, N
Jerman, B
Maier, W
Mors, O
O'Donovan, M
Peters, TJ
Placentino, A
Rietschel, M
Souery, D
Aitchison, KJ
Craig, I
Farmer, A
Wendland, JR
Malafosse, A
Lewis, G
Kapur, S
McGuffin, P
Uher, R
AF Tansey, K. E.
Rucker, J. J. H.
Kavanagh, D. H.
Guipponi, M.
Perroud, N.
Bondolfi, G.
Domenici, E.
Evans, D. M.
Hausers, J.
Henigsberg, N.
Jerman, B.
Maier, W.
Mors, O.
O'Donovan, M.
Peters, T. J.
Placentino, A.
Rietschel, M.
Souery, D.
Aitchison, K. J.
Craig, I.
Farmer, A.
Wendland, J. R.
Malafosse, A.
Lewis, G.
Kapur, S.
McGuffin, P.
Uher, R.
TI Copy number variants and therapeutic response to antidepressant
medication in major depressive disorder
SO PHARMACOGENOMICS JOURNAL
LA English
DT Article
DE antidepressant; copy number variants; major depressive disorder;
psychiatry; treatment response; 15q13.3
ID HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA; DE-NOVO CNVS;
BIPOLAR-DISORDER; SCHIZOPHRENIA; AUTISM; DUPLICATIONS; ASSOCIATION;
DELETIONS
AB It would be beneficial to find genetic predictors of antidepressant response to help personalise treatment of major depressive disorder (MDD). Rare copy number variants (CNVs) have been implicated in several psychiatric disorders, including MDD, but their role in antidepressant response has yet to be investigated. CNV data were available for 1565 individuals with MDD from the NEWMEDS (Novel Methods leading to New Medications in Depression and Schizophrenia) consortium with prospective data on treatment outcome with either a serotonergic or noradrenergic antidepressant. No association was seen between the presence of CNV (rare or common), the overall number of CNVs or genomic CNV 'burden' and antidepressant response. Specific CNVs were nominally associated with antidepressant response, including 15q13.3 duplications and exonic NRXN1 deletions. These were associated with poor response to antidepressants. Overall burden of CNVs is unlikely to contribute to personalising antidepressant treatment. Specific CNVs associated with antidepressant treatment require replication and further study to confirm their role in the therapeutic action of antidepressant.
C1 [Tansey, K. E.; Rucker, J. J. H.; Aitchison, K. J.; Craig, I.; Farmer, A.; Kapur, S.; McGuffin, P.; Uher, R.] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Kavanagh, D. H.; O'Donovan, M.] Cardiff Univ, Sch Med, Dept Psychol Med & Neurol, MRC,Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Guipponi, M.; Malafosse, A.] Univ Hosp Geneva, Dept Genet Med & Labs, Geneva, Switzerland.
[Perroud, N.; Bondolfi, G.; Malafosse, A.] Univ Geneva, Dept Psychiat, Geneva, Switzerland.
[Perroud, N.; Bondolfi, G.] Univ Hosp Geneva, Dept Mental Hlth & Psychiat, Geneva, Switzerland.
[Domenici, E.] F Hoffmann La Roche & Co Ltd, Pharma Res & Early Dev, CH-4002 Basel, Switzerland.
[Evans, D. M.] Univ Bristol, Sch Social & Community Med, MRC CAiTE Ctr, Bristol, Avon, England.
[Hausers, J.] Poznan Univ Med Sci, Lab Psychiat Genet, Poznan, Poland.
[Henigsberg, N.] Univ Zagreb, Sch Med, Croatian Inst Brain Res, Zagreb 41001, Croatia.
[Jerman, B.] Jozef Stefan Inst, Dept Mol & Biomed Sci, Ljubljana, Slovenia.
[Jerman, B.] Inst Publ Hlth Republ Slovenia, Ljubljana, Slovenia.
[Maier, W.] Univ Bonn, Dept Psychiat, Bonn, Germany.
[Mors, O.] Aarhus Univ Hosp, Res Dept P, Risskov, Denmark.
[Peters, T. J.] Univ Bristol, Sch Clin Sci, Bristol, Avon, England.
[Placentino, A.] Spedali Civili Hosp, Dept Mental Hlth, Psychiat Unit 23, Brescia, Italy.
[Placentino, A.] Ctr San Giovanni di Dio Fatebenefratelli, Biol Psychiat Unit, Brescia, Italy.
[Rietschel, M.] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Dept Genet Epidemiol Psychiat, Heidelberg, Germany.
[Souery, D.] Univ Libre Brussels, Erasme Acad Hosp, Dept Psychiat, Brussels, Belgium.
[Aitchison, K. J.] Univ Alberta, Dept Psychiat, Edmonton, AB, Canada.
[Wendland, J. R.] Pfizer, Worldwide R&D, Cambridge, MA USA.
[Lewis, G.] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England.
[Uher, R.] Dalhousie Univ, Dept Psychiat, Halifax, NS, Canada.
RP Tansey, KE (reprint author), Kings Coll London, Inst Psychiat, P080,16 De Crespigny Pk, London SE5 8AF, England.
EM katherine.tansey@kcl.ac.uk
RI Tansey, Katherine/B-1033-2013; Aitchison, Katherine/G-4476-2013; Lewis,
Glyn/E-9944-2012
OI Tansey, Katherine/0000-0002-9663-3376; Aitchison,
Katherine/0000-0002-1107-3024; Lewis, Glyn/0000-0001-5205-8245
FU Wellcome Trust [086635]; Innovative Medicine Initiative Joint
Undertaking (IMI-JU) [115008]; European Federation of Pharmaceutical
Industries and Associations (EFPIA); European Union; European
Commission, EC [LSHB-CT-2003-503428]; UK National Institute for Health
Research of the Department of Health; UK Medical Research Council (MRC,
UK); GlaxoSmithKline [G0701420]; Medical Research Council (MRC, UK);
Mental Health Research Network; Canada Research Chair program;
Wyeth-Lederle; Bristol-Myers-Squibb; Sanofi Aventis
FX The funders had no role in study design, data collection and analysis,
decision to publish or preparation of the manuscript. The research
leading to these results has received support from the Innovative
Medicine Initiative Joint Undertaking (IMI-JU) under Grant agreement no.
115008 of which resources are composed of European Union and the
European Federation of Pharmaceutical Industries and Associations
(EFPIA) in-kind contribution and financial contribution from the
European Union's Seventh Framework Programme (FP7/2007-2013). EFPIA
members Pfizer, Glaxo Smith Kline and F. Hoffmann La-Roche have
contributed work and samples to the project presented here. GENDEP was
funded by the European Commission Framework 6 grant, EC Contract Ref.:
LSHB-CT-2003-503428. Lundbeck provided nortriptyline and escitalopram
for the GENDEP study. GlaxoSmithKline and the UK National Institute for
Health Research of the Department of Health contributed to the funding
of the sample collection at the Institute of Psychiatry, London. GENDEP
genotyping was funded by a joint grant from the UK Medical Research
Council (MRC, UK) and GlaxoSmithKline (G0701420). GenPod was funded by
the Medical Research Council (MRC, UK) and supported by the Mental
Health Research Network. GODS study was partly supported by external
funding provided by the Swiss branches of the following pharmaceutical
companies: GlaxoSmithKline, Wyeth-Lederle, Bristol-Myers-Squibb and
Sanofi Aventis. RU is supported by the Canada Research Chair program
(http://www.chairs-chaires.gc.ca/). JR was supported by a fellowship
from the Wellcome Trust (086635).
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NR 34
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1470-269X
EI 1473-1150
J9 PHARMACOGENOMICS J
JI Pharmacogenomics J.
PD AUG
PY 2014
VL 14
IS 4
BP 395
EP 399
DI 10.1038/tpj.2013.51
PG 5
WC Genetics & Heredity; Pharmacology & Pharmacy
SC Genetics & Heredity; Pharmacology & Pharmacy
GA AM9QL
UT WOS:000340216000014
PM 24445990
ER
PT J
AU Baecker, T
Mangus, K
Pfaender, S
Chhabra, R
Boeckers, TM
Grabrucker, AM
AF Baecker, Tanja
Mangus, Katharina
Pfaender, Stefanie
Chhabra, Resham
Boeckers, Tobias M.
Grabrucker, Andreas M.
TI Loss of COMMD1 and copper overload disrupt zinc homeostasis and
influence an autism-associated pathway at glutamatergic synapses
SO BIOMETALS
LA English
DT Article
DE ProSAP; ASD; Shank3; Shank2; COMMD1; Zn2+; Synapse; PSD; Cu2+
ID COPY-NUMBER VARIATION; SPECTRUM DISORDERS; POSTSYNAPTIC DENSITY; MUTUAL
ANTAGONISM; TRACE-ELEMENTS; DE-NOVO; SHANK3; METALLOTHIONEIN; MUTATIONS;
GENE
AB Recent studies suggest that synaptic pathology in autism spectrum disorder (ASD) might be caused by the disruption of a signaling pathway at excitatory glutamatergic synapses, which can be influenced by environmental factors. Some factors, such as prenatal zinc deficiency, dysfunction of metallothioneins as well as deletion of COMMD1, all affect brain metal-ion homeostasis and have been associated with ASD. Given that COMMD1 regulates copper levels and that copper and zinc have antagonistic properties, here, we followed the idea that copper overload might induce a local zinc deficiency affecting key players of a putative ASD pathway such as ProSAP/Shank proteins as reported before. Our results show that increased copper levels indeed interfere with intracellular zinc concentrations and affect synaptic ProSAP/Shank levels, which similarly are altered by manipulation of copper and zinc levels through overexpression and knockdown of COMMD1. In line with this, acute and prenatal copper overload lead to local zinc deficiencies in mice. Pups exposed to prenatal copper overload furthermore show a reduction in ProSAP/Shank protein levels in the brain as well as a decreased NMDAR subunit 1 concentration. Thus, it might be likely that brain metal ion status influences a distinct pathway in excitatory synapses associated with genetic forms of ASD.
C1 [Baecker, Tanja; Mangus, Katharina; Chhabra, Resham; Grabrucker, Andreas M.] Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, D-89081 Ulm, Germany.
[Pfaender, Stefanie; Boeckers, Tobias M.; Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany.
RP Grabrucker, AM (reprint author), Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, Albert Einstein Allee 11, D-89081 Ulm, Germany.
EM andreas.grabrucker@uni-ulm.de
FU Baustein 3.2 [L.SBN.0083]; DAAD
FX AMG is supported by Baustein 3.2 (L.SBN.0083) and the DAAD. SP and RC
are members of the international graduate school in molecular medicine
of Ulm University.
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NR 54
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0966-0844
EI 1572-8773
J9 BIOMETALS
JI Biometals
PD AUG
PY 2014
VL 27
IS 4
BP 715
EP 730
DI 10.1007/s10534-014-9764-1
PG 16
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA AM5EJ
UT WOS:000339878700012
PM 25007851
ER
PT J
AU Harvey, L
Boksa, P
AF Harvey, Louise
Boksa, Patricia
TI Additive effects of maternal iron deficiency and prenatal immune
activation on adult behaviors in rat offspring
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Prenatal infection; Maternal immune activation; Maternal iron
deficiency; Behavior; Schizophrenia; Autism; Maternal diet
ID NEUROCHEMICAL PROFILE; VENTRAL HIPPOCAMPUS; BACTERIAL-ENDOTOXIN;
BRAIN-DEVELOPMENT; SCHIZOPHRENIA; PREGNANCY; INFECTION; MICE; ALTERS;
ANEMIA
AB Both iron deficiency (ID) and infection are common during pregnancy and studies have described altered brain development in offspring as a result of these individual maternal exposures. Given their high global incidence, these two insults may occur simultaneously during pregnancy. We recently described a rat model which pairs dietary ID during pregnancy and prenatal immune activation. Pregnant rats were placed on iron sufficient (IS) or ID diets from embryonic day 2 (E2) until postnatal day 7, and administered the bacterial endotoxin, lipopolysaccharide (LPS) or saline on E15/16. In this model, LPS administration on E15 caused greater induction of the pro-inflammatory cytokines, interleukin-6 and tumor necrosis factor-alpha, in ID dams compared to IS dams. This suggested that the combination of prenatal immune activation on a background of maternal ID might have more adverse neurodevelopmental consequences for the offspring than exposure to either insult alone. In this study we used this model to determine whether combined exposure to maternal ID and prenatal immune activation interact to affect juvenile and adult behaviors in the offspring. We assessed behaviors relevant to deficits in humans or animals that have been associated with exposure to either maternal ID or prenatal immune activation alone. Adult offspring from ID dams displayed significant deficits in pre-pulse inhibition of acoustic startle and in passive avoidance learning, together with increases in cytochrome oxidase immunohistochemistry, a marker of metabolic activity, in the ventral hippocampus immediately after passive avoidance testing. Offspring from LPS treated dams showed a significant increase in social behavior with unfamiliar rats, and subtle locomotor changes during exploration in an open field and in response to amphetamine. Surprisingly, there was no interaction between effects of the two insults on the behaviors assessed, and few observed alterations in juvenile behavior. Our findings show that long-term effects of maternal ID and prenatal LPS were additive, such that offspring exposed to both insults displayed more adult behavioral abnormalities than offspring exposed to one alone. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Harvey, Louise; Boksa, Patricia] McGill Univ, Douglas Mental Hlth Univ Inst, Dept Psychiat, Verdun, PQ H4H IR3, Canada.
RP Boksa, P (reprint author), McGill Univ, Douglas Mental Hlth Univ Inst, Dept Psychiat, 6875 Salle Blvd, Verdun, PQ H4H IR3, Canada.
EM patricia.boksa@mcgill.ca
FU Canadian Institutes of Health Research
FX We would like to thank Ying Zhang for technical assistance with the
cytochrome oxidase histochemistry and Dominique Nouel for technical
assistance with brain collection. This work was supported financially by
the Canadian Institutes of Health Research.
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NR 60
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD AUG
PY 2014
VL 40
BP 27
EP 37
DI 10.1016/j.bbi.2014.06.005
PG 11
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AL9JW
UT WOS:000339458400004
PM 24930842
ER
PT J
AU Giovanoli, S
Weber, L
Meyer, U
AF Giovanoli, Sandra
Weber, Liz
Meyer, Urs
TI Single and combined effects of prenatal immune activation and
peripubertal stress on parvalbumin and reelin expression in the
hippocampal formation
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Animal model; Autism; Cytokines; GABA; Infection; Inflammation; Stress;
Schizophrenia
ID BIPOLAR DISORDER; ANIMAL-MODEL; SCHIZOPHRENIA; BRAIN; DYSREGULATION;
INTERNEURONS; PREGNANCY; MICE; PATHOPHYSIOLOGY; INFLAMMATION
AB Exposure to prenatal infection and traumatizing experiences in peripubertal life are two environmental risk factors for developmental neuropsychiatric disorders. Modeling the cumulative neuronal impact of these factors in a translational animal model has led to the recent identification of pathological interactions between these environmental adversities in the development of adult brain dysfunctions. The present study explored the consequences of combined prenatal immune challenge and peripubertal stress on discrete cellular abnormalities in the gamma-aminobutyric acid (GABA) system of the hippocampus. Pregnant mice were treated with the viral mimetic poly(I:C) (=polyriboinosinic-polyribocytidilic add) or control solution, and offspring born to poly(I:C)-exposed or control mothers were then left undisturbed or subjected to unpredictable sub-chronic stress during peripubertal development. Stereological estimations of parvalbumin-expressing cells revealed a significant reduction of these GABAergic interneurons in the ventral dentate gyrus of adult offspring exposed to combined immune activation and stress. Single exposure to either environmental factor was insufficient to cause similar neuropathology. We further found that peripubertal stress exerted opposite effects on reelin-immunoreactive cells in the dorsal cornu ammonis (CA) region of the hippocampus, with stress increasing and decreasing reelin expression in control offspring and prenatally immune challenged animals, respectively. The present data suggest that the combination of two environmental risk factors, which have each been implicated in the etiology of major neuropsychiatric disease, induces significant but restricted neuropathological effects on hippocampal GABAergic cell populations known to be affected in brain disorders with neurodevelopmental components. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Giovanoli, Sandra; Weber, Liz; Meyer, Urs] Swiss Fed Inst Technol, Physiol & Behav Lab, CH-8603 Schwerzenbach, Switzerland.
RP Meyer, U (reprint author), Swiss Fed Inst Technol, Physiol & Behav Lab, Schorenstr 16, CH-8603 Schwerzenbach, Switzerland.
EM urmeyer@ethz.ch
FU European Union's (EU) Seventh Framework Programme (FP7) [259679]; Swiss
National Science Foundation [310030_146217/1]
FX The present study was supported by The European Union's (EU) Seventh
Framework Programme (FP7/2007-2011) under grant agreement No. 259679 and
by the Swiss National Science Foundation (grant 310030_146217/1) awarded
to U.M.
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Wang AY, 2011, ACTA NEUROPATHOL, V122, P615, DOI 10.1007/s00401-011-0881-4
NR 40
TC 4
Z9 4
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD AUG
PY 2014
VL 40
BP 48
EP 54
DI 10.1016/j.bbi.2014.04.005
PG 7
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AL9JW
UT WOS:000339458400007
PM 24859043
ER
PT J
AU Fujiwara, T
Kasahara, M
Tsujii, H
Okuyama, M
AF Fujiwara, Takeo
Kasahara, Mari
Tsujii, Hiromi
Okuyama, Makiko
TI Association of maternal developmental disorder traits with child
mistreatment: A prospective study in Japan
SO CHILD ABUSE & NEGLECT
LA English
DT Article
DE Autism Spectrum Disorder; Pervasive Developmental Disorder; Attention
Deficit Hyperactivity Disorder; Child Abuse; Child maltreatment; Mental
health
ID RISK-FACTORS; SUBSTANCE-ABUSE; MALTREATMENT; SAMPLE; NEGLECT;
POPULATION; PREVALENCE; VIOLENCE; PARENTS; MOTHERS
AB Maternal mental disorders are known risk factors for child mistreatment. However, little is known about the involvement of maternal developmental disorder traits. The aim of this study was to examine maternal traits related to Pervasive Developmental Disorder (PDD) and Attention Deficit Hyperactivity Disorder (ADHD), and their possible association with child mistreatment. Maternal PDD and ADHD were assessed through a self-administered questionnaire (N = 846) during mid-pregnancy using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) and Adult ADHD Self-Report Scale (ASRS). The mothers completed another questionnaire on child mistreatment when the offspring was approximately 18 months of age. The associations between maternal PDD and ADHD traits and child mistreatment score were analyzed using linear regression models adjusted for covariates. Mothers who exhibited stronger PDD traits showed significantly higher child mistreatment score, even after adjustment for maternal characteristics at baseline and ADHD traits. At the same time, ADHD traits were significantly associated with child mistreatment after adjustment of covariates, although the association became non-significant after adjustment of PDD traits. Mothers who showed PDD and ADHD traits during pregnancy were more likely to mistreat their children. It is essential to educate mothers with such traits with appropriate, easy-to-follow childcare instructions, preferably in simple language combined with pictorial aids. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Fujiwara, Takeo] Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
[Kasahara, Mari] Komagino Hosp, Dept Psychiat, Hachioji, Tokyo, Japan.
[Tsujii, Hiromi; Okuyama, Makiko] Natl Ctr Child Hlth & Dev, Dept Psychosocial Med, Setagaya Ku, Tokyo, Japan.
RP Fujiwara, T (reprint author), Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
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Ministry of Health. Labor and Welfare in Japan, 2012, NAT C DIR CHILD PROT
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NR 32
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0145-2134
EI 1873-7757
J9 CHILD ABUSE NEGLECT
JI Child Abuse Negl.
PD AUG
PY 2014
VL 38
IS 8
BP 1283
EP 1289
DI 10.1016/j.chiabu.2014.04.007
PG 7
WC Family Studies; Psychology, Social; Social Work
SC Family Studies; Psychology; Social Work
GA AM4YV
UT WOS:000339863000001
PM 24813254
ER
PT J
AU Yau, VM
Green, PG
Alaimo, CP
Yoshida, CK
LUtsky, M
Windham, GC
Delorenze, G
Kharrazi, M
Grether, JK
Croen, LA
AF Yau, Vincent M.
Green, Peter G.
Alaimo, Christopher P.
Yoshida, Cathleen K.
LUtsky, Marta
Windham, Gayle C.
Delorenze, Gerald
Kharrazi, Martin
Grether, Judith K.
Croen, Lisa A.
TI Prenatal and neonatal peripheral blood mercury levels and autism
spectrum disorders
SO ENVIRONMENTAL RESEARCH
LA English
DT Article
DE Autism; Mercury; Pregnancy; Developmental delay; Intellectual disability
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; THIMEROSAL-CONTAINING
VACCINES; HAZARDOUS AIR-POLLUTANTS; CENTRAL-NERVOUS-SYSTEM; FISH
CONSUMPTION; DEVELOPMENTAL DISORDERS; ENVIRONMENTAL-FACTORS; URINARY
PORPHYRINS; INORGANIC MERCURY; CHILD-DEVELOPMENT
AB Background: Prenatal and early-life exposures to mercury have been hypothesized to be associated with increased risk of autism spectrum disorders (ASDs).
Objectives: This study investigated the association between ASDs and levels of total mercury measured in maternal serum from mid-pregnancy and infant blood shortly after birth.
Methods: The study sample was drawn from the Early Markers for Autism (EMA) Study. Three groups of children who were born in Orange County, CA in 2000-2001 were identified: children with ASD (n=84), children with intellectual disability or developmental delay (DD) (n=49), and general population controls (GP) (n=159). Maternal serum specimens and newborn bloodspots were retrieved from the California Department of Public Health prenatal and newborn screening specimen archives. Blood mercury levels were measured in maternal serum samples using mass spectrometer and in infant bloodspots with a 213 nm laser.
Results: Maternal serum and infant blood mercury levels were significantly correlated among all study groups (all correlations > 0.38, p < 0.01). Adjusted logistic regression models showed no significant associations between ASD and log transformed mercury levels in maternal serum samples (ASD vs. GP: OR [95% CI]=0.96 [0.49-1.90]; ASD vs. DD: OR [95% CI]=2.56 [0.89-7.39]). Results for mercury levels in newborn blood samples were similar (ASD vs. GP: OR [95% CI]=1.18 [0.71-1.95]; ASD vs. DD: OR [95% CI]=1.96 [0.75-5.14]).
Conclusions: Results indicate that levels of total mercury in serum collected from mothers during mid-pregnancy and from newborn bloodspots were not significantly associated with risk of ASD, though additional studies with greater sample size and covariate measurement are needed. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Yau, Vincent M.; Yoshida, Cathleen K.; LUtsky, Marta; Delorenze, Gerald; Croen, Lisa A.] Kaiser Permanente, Div Res, Oakland, CA USA.
[Green, Peter G.; Alaimo, Christopher P.] Univ Calif Davis, Dept Civil & Environm Engn, Davis, CA 95616 USA.
[Windham, Gayle C.; Grether, Judith K.] Calif Dept Publ Hlth, Div Environm & Occupat Dis Control, Richmond, CA USA.
[Kharrazi, Martin] Calif Dept Publ Hlth, Genet Dis Screening Program, Richmond, CA USA.
RP Croen, LA (reprint author), Kaiser Permanente, Div Res, Autism Res Program, 2000 Broadway Oakland, Oakland, CA 94612 USA.
EM Lisa.A.Croen@kp.org
FU National Institute of Mental Health [R01-MH72565]; National Alliance for
Autism Research [824/LC/01-201-004-00-00]; California Tobacco-Related
Disease Research Program [8RT-0115]
FX Funding was provided by grants from the National Institute of Mental
Health (R01-MH72565, L. Croen, PI), the National Alliance for Autism
Research (824/LC/01-201-004-00-00, L. Croen, PI), and the California
Tobacco-Related Disease Research Program (8RT-0115, M. Kharrazi, PI). We
thank Ron Torres for DNA amplification; Jack Collins, Roxana Odouli and
Tiffany Wong for project coordination; Julie Ruedaflores for record
review and abstraction; Meredith Anderson and Daniel Najjar for
assistance with data management and analysis; and Steve Graham and
Debbie Hildebrandt for record linkage and specimen retrieval.
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NR 100
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0013-9351
EI 1096-0953
J9 ENVIRON RES
JI Environ. Res.
PD AUG
PY 2014
VL 133
BP 294
EP 303
DI 10.1016/j.envres.2014.04.034
PG 10
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AM2UI
UT WOS:000339705900038
PM 24981828
ER
PT J
AU Suckling, J
Henty, J
Ecker, C
Deoni, SC
Lombardo, MV
Baron-Cohen, S
Jezzard, P
Barnes, A
Chakrabarti, B
Ooi, C
Lai, MC
Williams, SC
Murphy, DGM
Bullmore, ET
AF Suckling, John
Henty, Julian
Ecker, Christine
Deoni, Sean C.
Lombardo, Michael V.
Baron-Cohen, Simon
Jezzard, Peter
Barnes, Anna
Chakrabarti, Bhismadev
Ooi, Cinly
Lai, Meng-Chuan
Williams, Steven C.
Murphy, Declan G. M.
Bullmore, Edward T.
CA MRC AIMS Consortium
TI Are Power Calculations Useful? A Multicentre Neuroimaging Study
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE power calculations; neuroimaging; multicentre
ID STATISTICAL POWER; FUNCTIONAL MRI; BRAIN; AUTISM; REGISTRATION;
VARIANCE; REPRODUCIBILITY; BEHAVIOR; ANATOMY; IMAGES
AB There are now many reports of imaging experiments with small cohorts of typical participants that precede large-scale, often multicentre studies of psychiatric and neurological disorders. Data from these calibration experiments are sufficient to make estimates of statistical power and predictions of sample size and minimum observable effect sizes. In this technical note, we suggest how previously reported voxel-based power calculations can support decision making in the design, execution and analysis of cross-sectional multicentre imaging studies. The choice of MRI acquisition sequence, distribution of recruitment across acquisition centres, and changes to the registration method applied during data analysis are considered as examples. The consequences of modification are explored in quantitative terms by assessing the impact on sample size for a fixed effect size and detectable effect size for a fixed sample size. The calibration experiment dataset used for illustration was a precursor to the now complete Medical Research Council Autism Imaging Multicentre Study (MRC-AIMS). Validation of the voxel-based power calculations is made by comparing the predicted values from the calibration experiment with those observed in MRC-AIMS. The effect of non-linear mappings during image registration to a standard stereotactic space on the prediction is explored with reference to the amount of local deformation. In summary, power calculations offer a validated, quantitative means of making informed choices on important factors that influence the outcome of studies that consume significant resources. (C) 2014 The Authors. Human Brain Mapping Published by Wiley Periodicals, Inc.
C1 [Suckling, John; Henty, Julian; Ooi, Cinly; Bullmore, Edward T.] Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England.
[Suckling, John; Ooi, Cinly; Bullmore, Edward T.] Univ Cambridge, Behav & Clin Neurosci Inst, Cambridge, England.
[Suckling, John; Baron-Cohen, Simon; Bullmore, Edward T.] Cambridge & Peterborough Fdn NHS Trust, Cambridge, England.
[Ecker, Christine; Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
[Ecker, Christine; Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
[Deoni, Sean C.] Brown Univ, Div Engn, Providence, RI 02912 USA.
[Lombardo, Michael V.; Baron-Cohen, Simon; Chakrabarti, Bhismadev; Lai, Meng-Chuan] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Jezzard, Peter] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England.
[Barnes, Anna] Univ Coll London Hosp, Inst Nucl Med, London, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading, Berks, England.
[Williams, Steven C.] Kings Coll London, Inst Psychiat, Ctr Neuroimaging Sci, London, England.
[Bullmore, Edward T.] Addenbrookes Hosp, GlaxoSmithKline Ltd, Clin Unit Cambridge, Cambridge, England.
RP Suckling, J (reprint author), Dept Psychiat, Brain Mapping Unit, Herchel Smith Bldg,Robinson Way, Cambridge CB2 0SZ, England.
EM js369@cam.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Medical Research Council, United Kingdom [G0400061]; Behavioural and
Clinical Neurosciences Institute, Wellcome Trust; Cambridge Biomedical
Research Centre, National Institute of Health Research
FX Contract grant sponsor: Medical Research Council, United Kingdom;
Contract grant number: G0400061; Contract grant sponsors: Behavioural
and Clinical Neurosciences Institute, Wellcome Trust; Cambridge
Biomedical Research Centre, National Institute of Health Research
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NR 28
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD AUG
PY 2014
VL 35
IS 8
BP 3569
EP 3577
DI 10.1002/hbm.22465
PG 9
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700001
PM 24644267
ER
PT J
AU Verly, M
Verhoeven, J
Zink, I
Mantini, D
Van Oudenhove, L
Lagae, L
Sunaert, S
Rommel, N
AF Verly, Marjolein
Verhoeven, Judith
Zink, Inge
Mantini, Dante
Van Oudenhove, Lukas
Lagae, Lieven
Sunaert, Stefan
Rommel, Nathalie
TI Structural and Functional Underconnectivity as a Negative Predictor for
Language in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism spectrum disorder; diffusion tensor imaging; language impairment;
arcuate fascicle; functional MRI
ID CEREBRAL WHITE-MATTER; HUMAN BRAIN; ARCUATE FASCICULUS; SPECTRUM
DISORDER; FRONTAL-CORTEX; SENTENCE COMPREHENSION; CONNECTIVITY MRI;
HEALTHY-SUBJECTS; CROSSING FIBERS; IN-VIVO
AB The development of language, social interaction, and communicative skills are remarkably different in the child with autism spectrum disorder (ASD). Atypical brain connectivity has frequently been reported in this patient population. However, the interplay between their brain connectivity and language performance remains largely understudied. Using diffusion tensor imaging tractography and resting-state fMRI, the authors explored the structural and functional connectivity of the language network and its relation to the language profile in a group of healthy control subjects (N = 25) and a group of children with ASD (N = 17). The authors hypothesized that in children with ASD, a neural connectivity deficit of the language network can be related to the observed abnormal language function. They found an absence of the right-hemispheric arcuate fascicle (AF) in 28% (7/25) of the healthy control children and in 59% (10/17) of the children with ASD. In contrast to healthy control children, the absence of the right-hemispheric AF in children with autism was related to a lower language performance as indicated by a lower verbal IQ, lower scores on the Pea-body Picture Vocabulary Test, and lower language scores on the Dutch version of the Clinical Evaluation of Language Fundamentals (CELF-4NL). In addition, through iterative fMRI data analyses, the language impairment of children with ASD could be linked to a marked loss of intrahemispheric functional connectivity between inferior frontal and superior temporal regions, known as the cortical language network. Both structural and functional underconnectivity patterns coincide and are related to an abnormal language function in children with ASD. (C) 2013 Wiley Periodicals, Inc.
C1 [Verly, Marjolein; Zink, Inge; Rommel, Nathalie] Katholieke Univ Leuven, ExpORL, Dept Neurosci, B-3000 Leuven, Belgium.
[Verhoeven, Judith; Lagae, Lieven] Katholieke Univ Leuven, Univ Hosp, Dept Pediat, Leuven, Belgium.
[Mantini, Dante] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England.
[Mantini, Dante] ETH, Dept Hlth Sci & Technol, Zurich, Switzerland.
[Mantini, Dante] Katholieke Univ Leuven, Dept Neurosci, Lab Neurophysiol & Psychophysiol, B-3000 Leuven, Belgium.
[Van Oudenhove, Lukas] Katholieke Univ Leuven, Dept Clin & Expt Med, Translat Res Ctr Gastrointestinal Disorders TARGI, B-3000 Leuven, Belgium.
[Van Oudenhove, Lukas] Katholieke Univ Leuven, Univ Psychiat Ctr, B-3000 Leuven, Belgium.
[Sunaert, Stefan] Katholieke Univ Leuven, Univ Hosp, Dept Radiol, Leuven, Belgium.
RP Verly, M (reprint author), Katholieke Univ Leuven, ExpORL, Dept Neurosci, Herestr 49, B-3000 Leuven, Belgium.
EM marjolein.verly@med.kuleuven.be
RI Rommel, Nathalie/D-6721-2014
FU Fund for Scientific Research-Flanders, FWO, Belgium [G.0354.06];
Research Council of the University of Leuven [IDO/08/013]; IUAP-KUL
FX Contract grant sponsor: Fund for Scientific Research-Flanders, FWO,
Belgium; Contract grant number: G.0354.06; Contract grant sponsor:
Research Council of the University of Leuven; Contract grant number:
IDO/08/013; Contract grant sponsor: IUAP-KUL.
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NR 78
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD AUG
PY 2014
VL 35
IS 8
BP 3602
EP 3615
DI 10.1002/hbm.22424
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700004
PM 24375710
ER
PT J
AU Nair, A
Keown, CL
Datko, M
Shih, P
Keehn, B
Muller, RA
AF Nair, Aarti
Keown, Christopher L.
Datko, Michael
Shih, Patricia
Keehn, Brandon
Mueller, Ralph-Axel
TI Impact of Methodological Variables on Functional Connectivity Findings
in Autism Spectrum Disorders
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE functional connectivity; fMRI; autism; resting state; region of
interest; temporal filtering; task regression
ID HUMAN CEREBRAL-CORTEX; RESTING HUMAN BRAIN; CORTICAL UNDERCONNECTIVITY;
SENTENCE COMPREHENSION; RESPONSE-INHIBITION; COGNITIVE CONTROL;
VISUAL-CORTEX; GLOBAL SIGNAL; MOTOR TASK; STATE
AB Growing evidence suggests that Autism Spectrum Disorder (ASD) involves abnormalities of multiple functional networks. Neuroimaging studies of ASD have therefore increasingly focused on connectivity. Many functional connectivity (fcMRI) studies have reported network underconnectivity in children and adults with ASD. However, there are notable inconsistencies, with some studies reporting overconnectivity. A previous literature survey suggested that a few methodological factors play a crucial role in differential fcMRI outcomes. Using three ASD data sets (two task-related, one resting state) from 54 ASD and 51 typically developing (TD) participants (ages 9-18 years), we examined the impact of four methodological factors: type of pipeline (co-activation vs. intrinsic analysis, related to temporal filtering and removal of task-related effects), seed selection, field of view (whole brain vs. limited ROIs), and dataset. Significant effects were found for type of pipeline, field of view, and dataset. Notably, for each dataset results ranging from robust underconnectivity to robust overconnectivity were detected, depending on the type of pipeline, with intrinsic fcMRI analyses (low bandpass filter and task regressor) predominantly yielding overconnectivity in ASD, but co-activation analyses (no low bandpass filter or task removal) mostly generating underconnectivity findings. These results suggest that methodological variables have dramatic impact on group differences reported in fcMRI studies. Improved awareness of their implications appears indispensible in fcMRI studies when inferences about "underconnectivity" or "overconnectivity" in ASD are made. In the absence of a gold standard for functional connectivity, the combination of different methodological approaches promises a more comprehensive understanding of connectivity in ASD. (c) 2014 Wiley Periodicals, Inc.
C1 [Nair, Aarti; Keown, Christopher L.; Datko, Michael; Shih, Patricia; Keehn, Brandon; Mueller, Ralph-Axel] San Diego State Univ, Dept Psychol, Brain Dev Imaging Lab, San Diego, CA 92120 USA.
[Nair, Aarti; Mueller, Ralph-Axel] San Diego State Univ, Joint Doctoral Program Clin Psychol, San Diego, CA 92120 USA.
[Nair, Aarti; Mueller, Ralph-Axel] Univ Calif San Diego, San Diego, CA 92103 USA.
[Keown, Christopher L.; Datko, Michael] Univ Calif San Diego, Dept Cognit Sci, San Diego, CA 92103 USA.
[Shih, Patricia] Brown Univ, Dept Neurosci, Providence, RI 02912 USA.
[Keehn, Brandon] Harvard Univ, Sch Med, Boston Childrens Hosp, Labs Cognit Neurosci, Boston, MA USA.
RP Muller, RA (reprint author), San Diego State Univ, Dept Psychol, 6363 Alvarado Ct,Suite 200, San Diego, CA 92120 USA.
EM rmueller@mail.sdsu.edu
FU National Institutes of Health [R01-MH081023]; Autism Speaks Dennis
Weatherstone Predoctoral Fellowship [7850]
FX Contract grant sponsor: National Institutes of Health; Contract grant
number: R01-MH081023; Contract grant sponsor: Autism Speaks Dennis
Weatherstone Predoctoral Fellowship; Contract grant numbers: 7850 (to
A.N.).
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NR 96
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD AUG
PY 2014
VL 35
IS 8
BP 4035
EP 4048
DI 10.1002/hbm.22456
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AL8YV
UT WOS:000339426700035
PM 24452854
ER
PT J
AU Ben-David, E
Shohat, S
Shifman, S
AF Ben-David, Eyal
Shohat, Shahar
Shifman, Sagiv
TI Allelic expression analysis in the brain suggests a role for
heterogeneous insults affecting epigenetic processes in autism spectrum
disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID X-CHROMOSOME INACTIVATION; DE-NOVO MUTATIONS; MONOALLELIC EXPRESSION;
IMPRINTED GENES; RETT-SYNDROME; MOUSE-BRAIN; PATTERNS; UBE3A;
NEUROBIOLOGY; CONNECTIVITY
AB Monoallelic expression, including genomic imprinting, X-chromosome inactivation and random monoallelic expression of autosomal genes are epigenetic phenomena. Genes that are expressed in a monoallelic way may be more vulnerable to genetic or epigenetic mutations. Thus, comprehensive exploration of monoallelic expression in human brains may shed light on complex brain disorders. Autism-related disorders are known to be associated with imprinted genes on chromosome 15. However, it is not clear whether other imprinted regions or other types of monoallelic expression are associated with autism spectrum disorder (ASD). Here, we performed a genome-wide survey of allele expression imbalance (AEI) in the human brain using single-nucleotide polymorphisms (SNPs), in 18 individuals with ASD and 15 controls. Individuals with ASD had the most extreme number of monoallelic expressed SNPs in both the autosomes and the X chromosome. In two cases that were studied in detail, the monoallelic expression was confined to specific brain region or cell type. Using these data, we were also able to define the allelic expression status of known imprinted genes in the human brain and to identify abnormal imprinting in an individual with ASD. Lastly, we developed an analysis of individual-level expression, focusing on the difference of each individual from the mean. We found that individuals with ASD had more genes that were up- or down-regulated in an individual-specific manner. We also identified pathways perturbed in specific individuals. These results underline the heterogeneity in gene regulation in ASD, at the level of both allelic and total expression.
C1 [Ben-David, Eyal; Shohat, Shahar; Shifman, Sagiv] Hebrew Univ Jerusalem, Dept Genet, Inst Life Sci, IL-91904 Jerusalem, Israel.
RP Shifman, S (reprint author), Hebrew Univ Jerusalem, Dept Genet, Inst Life Sci, Edmond J Safra campus, IL-91904 Jerusalem, Israel.
EM sagiv@vms.huji.ac.il
FU National Institute for Psychobiology in Israel; Legacy Heritage Fund
program of the Israel Science Foundation [1998/08]; Israel Science
Foundation [688/12]; Dennis Weatherstone Pre-doctoral Fellowship from
Autism Speaks [8595]
FX This research was supported by grants from the National Institute for
Psychobiology in Israel, the Legacy Heritage Fund program of the Israel
Science Foundation (grant no. 1998/08), and Israel Science Foundation
(grant no. 688/12). E. B. D. is supported by the Dennis Weatherstone
Pre-doctoral Fellowship from Autism Speaks (grant no. 8595).
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NR 60
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD AUG 1
PY 2014
VL 23
IS 15
BP 4111
EP 4124
DI 10.1093/hmg/ddu128
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AM2GV
UT WOS:000339669200018
PM 24659497
ER
PT J
AU Benson, PR
AF Benson, Paul R.
TI Coping and Psychological Adjustment Among Mothers of Children with ASD:
An Accelerated Longitudinal Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Coping; Stress; Psychological adjustment; Autism spectrum disorders;
ASD; Mothers
ID AUTISM SPECTRUM DISORDERS; MULTILEVEL MODELING APPROACH; PARENTAL
SELF-EFFICACY; BEHAVIOR RATING FORM; DOUBLE ABCX MODEL;
MENTAL-RETARDATION; SOCIAL SUPPORT; DEVELOPMENTAL-DISABILITIES;
INTELLECTUAL DISABILITIES; STRESS PROLIFERATION
AB Utilizing a cohort sequential design and multilevel modeling on a sample of 113 mothers, the effects of four coping strategies (engagement, disengagement, distraction, and cognitive reframing) on multiple measures of maternal adjustment were assessed over a 7 years period when children with autism spectrum disorders in the study were approximately 7-14 years old. Findings indicated increased use of disengagement and distraction to be related to increased maternal maladjustment over time, while increased use of cognitive reframing was linked to improved maternal outcomes (findings regarding engagement's effects on adjustment measures were mixed). In addition, results indicated that use of different coping strategies at times moderated the effects of child behavior on maternal adjustment. Study findings are discussed in light of prior research and study limitations and clinical implications are highlighted.
C1 Univ Massachusetts, Dept Sociol, Boston, MA 02125 USA.
RP Benson, PR (reprint author), Univ Massachusetts, Dept Sociol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM paul.benson@umb.edu
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NR 77
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1793
EP 1807
DI 10.1007/s10803-014-2079-9
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400001
PM 24599424
ER
PT J
AU Jensen, CM
Steinhausen, HC
Lauritsen, MB
AF Jensen, Christina Mohr
Steinhausen, Hans-Christoph
Lauritsen, Marlene Briciet
TI Time Trends Over 16 Years in Incidence-Rates of Autism Spectrum
Disorders Across the Lifespan Based on Nationwide Danish Register Data
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism; Incidence; Time-trend
ID PERVASIVE DEVELOPMENTAL DISORDERS; OLMSTED COUNTY; BIRTH COHORTS;
DIAGNOSIS; CHILDREN; POPULATION; PREVALENCE; AGE; CALIFORNIA; MINNESOTA
AB This study investigated time trends and associated factors of incidence rates of diagnosed autism spectrum disorders (ASD) across the lifespan from 1995 to 2010, using data from the Danish Psychiatric Central Research Registry. First time diagnosis of childhood autism, atypical autism, Asperger's syndrome, or pervasive developmental disorder-unspecified (PDD-NOS) were identified, incidence rates were calculated, and data were fitted using non-linear least squares methods. A total of 14.997 patients were identified and incidence rates for ASD increased from 9.0 to 38.6 per 100,000 person years during the 16-year period. The increases were most pronounced in females, adolescents, adults, and patients with Asperger's syndrome and PDD-NOS.
C1 [Jensen, Christina Mohr; Steinhausen, Hans-Christoph; Lauritsen, Marlene Briciet] Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, DK-9000 Aalborg, Denmark.
[Steinhausen, Hans-Christoph] Univ Basel, Inst Psychol, Basel, Switzerland.
[Steinhausen, Hans-Christoph] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
RP Jensen, CM (reprint author), Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, Molleparkvej 10, DK-9000 Aalborg, Denmark.
EM christina.j@rn.dk
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NR 32
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1808
EP 1818
DI 10.1007/s10803-014-2053-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400002
PM 24554161
ER
PT J
AU Harper-Hill, K
Copland, D
Arnott, W
AF Harper-Hill, Keely
Copland, David
Arnott, Wendy
TI Efficiency of Lexical Access in Children with Autism Spectrum Disorders:
Does Modality Matter?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Children; Language; Semantic priming; Retrospective semantic matching;
Attention; Visual support; Autism spectrum disorders
ID HIGH-FUNCTIONING AUTISM; LANGUAGE IMPAIRMENT; YOUNG-CHILDREN; LARGE SET;
ADULTS; DECISION; SPEECH; WORDS; COMPREHENSION; MEMORY
AB The provision of visual support to individuals with an autism spectrum disorder (ASD) is widely recommended. We explored one mechanism underlying the use of visual supports: efficiency of language processing. Two groups of children, one with and one without an ASD, participated. The groups had comparable oral and written language skills and nonverbal cognitive abilities. In two semantic priming experiments, prime modality and prime-target relatedness were manipulated. Response time and accuracy of lexical decisions on the spoken word targets were measured. In the first uni-modal experiment, both groups demonstrated significant priming effects. In the second experiment which was cross-modal, no effect for relatedness or group was found. This result is considered in the light of the attentional capacity required for access to the lexicon via written stimuli within the developing semantic system. These preliminary findings are also considered with respect to the use of visual support for children with ASD.
C1 [Harper-Hill, Keely; Copland, David] Univ Queensland, Clin Res Ctr, Brisbane, Qld, Australia.
[Harper-Hill, Keely; Copland, David; Arnott, Wendy] Univ Queensland, Sch Hlth & Rehabil, Div Speech Pathol, Brisbane, Qld, Australia.
RP Harper-Hill, K (reprint author), Univ Queensland, Clin Res Ctr, Brisbane, Qld, Australia.
EM k.harperhill@uq.edu.au
RI Copland, David/F-1409-2010
OI Copland, David/0000-0002-2257-4270
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NR 82
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1819
EP 1832
DI 10.1007/s10803-014-2055-4
PG 14
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400003
PM 24519698
ER
PT J
AU Fatemi, SH
Reutiman, TJ
Folsom, TD
Rustan, OG
Rooney, RJ
Thuras, PD
AF Fatemi, S. Hossein
Reutiman, Teri J.
Folsom, Timothy D.
Rustan, Oyvind G.
Rooney, Robert J.
Thuras, Paul D.
TI Downregulation of GABA(A) Receptor Protein Subunits alpha 6, beta 2,
delta, epsilon, gamma 2, theta, and rho 2 in Superior Frontal Cortex of
Subjects with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; GABA; Brain; GABR alpha 6; Frontal cortex; GABR beta 2
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; IN-SITU HYBRIDIZATION;
MESSENGER-RNA LEVELS; SPECTRUM DISORDERS; RAT-BRAIN; CHROMOSOME
15Q11-Q13; SIGNIFICANT ASSOCIATION; POSTMORTEM BRAIN; GENE-EXPRESSION
AB We measured protein and mRNA levels for nine gamma-aminobutyric acid A (GABA(A)) receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal cortex) in subjects with autism versus matched controls. We observed changes in mRNA for a number of GABA(A) and GABA(B) subunits and overall reduced protein expression for GABA(A) receptor alpha 6 (GABR alpha 6), GABA(A) receptor beta 2 (GABR beta 2), GABA(A) receptor delta (GABR delta), GABA(A) receptor epsilon (GABR epsilon), GABA(A) receptor gamma 2 (GABR gamma 2), GABA(A) receptor theta (GABR theta), and GABA(A) receptor rho 2 (GABR rho 2) in superior frontal cortex from subjects with autism. Our data demonstrate systematic changes in GABA(A&B) subunit expression in brains of subjects with autism, which may help explain the presence of cognitive abnormalities in subjects with autism.
C1 [Fatemi, S. Hossein; Folsom, Timothy D.] Univ Minnesota, Div Neurosci Res, Dept Psychiat, Sch Med, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Dept Pharmacol, Sch Med, Minneapolis, MN 55455 USA.
[Fatemi, S. Hossein] Univ Minnesota, Dept Neurosci, Sch Med, Minneapolis, MN 55455 USA.
[Rooney, Robert J.] Genome Explorat, Memphis, TN 84322 USA.
[Thuras, Paul D.] Minneapolis Vet Adm Med Ctr, Dept Psychiat 116A, Minneapolis, MN 55417 USA.
RP Fatemi, SH (reprint author), Univ Minnesota, Div Neurosci Res, Dept Psychiat, Sch Med, 420 Delaware St SE,MMC 392, Minneapolis, MN 55455 USA.
EM fatem002@umn.edu
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NR 79
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1833
EP 1845
DI 10.1007/s10803-014-2078-x
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400004
PM 24668190
ER
PT J
AU Jameel, L
Vyas, K
Bellesi, G
Roberts, V
Channon, S
AF Jameel, Leila
Vyas, Karishma
Bellesi, Giulia
Roberts, Victoria
Channon, Shelley
TI Going 'Above and Beyond': Are Those High in Autistic Traits Less
Pro-social?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autistic traits; Pro-social behaviour; Empathy; Perspective-taking;
Theory of mind
ID MIRROR-NEURON SYSTEM; SPECTRUM QUOTIENT AQ; ASPERGERS-SYNDROME;
FUNCTIONING AUTISM; COGNITIVE-STYLE; SKILLS GROUP; MIND; CHILDREN;
BEHAVIOR; EMPATHY
AB Few studies have explored how the cognitive differences associated with autistic spectrum disorder translate into everyday social behaviour. This study investigated pro-social behaviour in students scoring high and low on the autism-spectrum quotient (AQ), using a novel scenario task: 'Above and Beyond'. Each scenario involved an opportunity to behave pro-socially, and thus required balancing the needs of a character against participants' own interests. High AQ participants both generated responses and selected courses of action that were less pro-social than those of the low AQ group. For actions of low pro-social value they gave higher self-satisfaction ratings; conversely, they gave lower self-satisfaction ratings for high pro-social actions. The implications for everyday functioning are considered for those with high autistic traits.
C1 [Jameel, Leila; Vyas, Karishma; Bellesi, Giulia; Roberts, Victoria; Channon, Shelley] Univ Coll London, Dept Cognit Perceptual & Brain Sci, Bedford WC1E 6BT, England.
RP Jameel, L (reprint author), Univ Coll London, Dept Cognit Perceptual & Brain Sci, Bedford Way Bldg,Gower St, Bedford WC1E 6BT, England.
EM l.jameel@ucl.ac.uk
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NR 99
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1846
EP 1858
DI 10.1007/s10803-014-2056-3
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400005
PM 24522968
ER
PT J
AU Hathorn, C
Alateeqi, N
Graham, C
O'Hare, A
AF Hathorn, Claire
Alateeqi, Nahed
Graham, Catriona
O'Hare, Anne
TI Impact of Adherence to Best Practice Guidelines on the Diagnostic and
Assessment Services for Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Guidelines; Autism spectrum disorder; ASD specific history;
Observational instruments; Paediatric medical training
ID ASPERGER-SYNDROME; RISK-FACTORS; CHILDREN; COMMUNICATION; PREVALENCE;
AGE; POPULATION; QUALITY; UTILITY; RATES
AB Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective analysis of comprehensive clinical notes demonstrated that the recommended discretionary use of structured history instruments was increased after medical training (p = 0.003). 56 % (51/90) of children received the diagnosis of ASD at their initial specialist appointment. 51 % underwent the recommended discretionary structured observational instrument. This further assessment was more likely to be required for older children in the reaudited group (p = 0.001). The implications for service capacity planning when delivering best practice recommendations are discussed.
C1 [Hathorn, Claire] Royal Hosp Sick Children, Edinburgh EH9 1LF, Midlothian, Scotland.
[Alateeqi, Nahed; O'Hare, Anne] Univ Edinburgh, Sch Clin Sci Child Life & Hlth, Edinburgh EH9 1UW, Midlothian, Scotland.
[Graham, Catriona] Wellcome Trust Clin Res Facil, Edinburgh, Midlothian, Scotland.
RP O'Hare, A (reprint author), Univ Edinburgh, Sch Clin Sci Child Life & Hlth, 20 Sylvan Pl, Edinburgh EH9 1UW, Midlothian, Scotland.
EM aohare@ed.ac.uk
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[Anonymous], 2001, PUBLIC HEALTH INSTIT
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World Health Organisation, 1993, THE INTERNATIONAL CL
NR 51
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1859
EP 1866
DI 10.1007/s10803-014-2057-2
PG 8
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400006
PM 24573334
ER
PT J
AU Mavropoulou, S
Sideridis, GD
AF Mavropoulou, Sophia
Sideridis, Georgios D.
TI Knowledge of Autism and Attitudes of Children Towards Their Partially
Integrated Peers with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Peers; Partial integration; Knowledge; Attitudes; Empathy
ID COOPERATIVE LEARNING GROUPS; BEHAVIORAL INTENTIONS; SEVERE DISABILITIES;
STUDENTS ATTITUDES; GENERAL-EDUCATION; CONTACT THEORY; EMPATHY SCALE;
PLACEMENT; PROGRAMS; YOUTH
AB This study aimed to measure the effects of contact with integrated students with autism spectrum disorders (ASD) on the knowledge, attitudes and empathy of children (n = 224) from grades 4-6. A comparison group of children (n = 251) who had no contact with classmates with ASD was also included. All participants completed self-report instruments. The implementation of multilevel modeling and moderation analysis indicated significant effects on all dependent variables as well as differences across gender and grades. Implications are discussed regarding the role of contact on peers' conceptions of autism and their attitudes towards children with ASD within inclusionary settings.
C1 [Mavropoulou, Sophia] Univ Thessaly, Dept Special Educ, Volos 38221, Greece.
[Sideridis, Georgios D.] Harvard Univ, Childrens Hosp, Clin Res Ctr, Sch Med, Boston, MA USA.
RP Mavropoulou, S (reprint author), Univ Thessaly, Dept Special Educ, Volos 38221, Greece.
EM smavrop@uth.gr; Georgios.Sideridis@childrens.harvard.edu
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NR 71
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1867
EP 1885
DI 10.1007/s10803-014-2059-0
PG 19
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400007
PM 24535575
ER
PT J
AU Lahera, G
Boada, L
Pousa, E
Mirapeix, I
Moron-Nozaleda, G
Marinas, L
Gisbert, L
Pamias, M
Parellada, M
AF Lahera, G.
Boada, L.
Pousa, E.
Mirapeix, I.
Moron-Nozaleda, G.
Marinas, L.
Gisbert, L.
Pamias, M.
Parellada, M.
TI Movie for the Assessment of Social Cognition (MASC): Spanish Validation
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Social cognition; Theory of mind; Autism; Asperger syndrome; MASC
ID HIGH-FUNCTIONING AUTISM; BELIEF TASK-PERFORMANCE; PSYCHIATRY SCIP-S;
ASPERGER-SYNDROME; AUTOBIOGRAPHICAL MEMORY; SPECTRUM DISORDERS; REVISED
VERSION; NORMAL ADULTS; MIND; CHILDREN
AB We present the Spanish validation of the "Movie for the Assessment of Social Cognition" instrument (MASC-SP). We recruited 22 adolescents and young adults with Asperger syndrome and 26 participants with typical development. The MASC-SP and three other social cognition instruments (Ekman Pictures of Facial Affect test, Reading the Mind in the Eyes Test, and Happ,aEuro (TM) s Strange Stories) were administered to both groups. Individuals with Asperger syndrome had significantly lower scores in all measures of social cognition. The MASC-SP showed strong correlations with all three measures and relative independence of general cognitive functions. Internal consistency was optimal (0.86) and the test-retest was good. The MASC-SP is an ecologically valid and useful tool for assessing social cognition in the Spanish population.
C1 [Lahera, G.] Univ Alcala De Henares, Psychiat Med Special Dept, Fac Med, Madrid 28871, Spain.
[Boada, L.; Moron-Nozaleda, G.; Parellada, M.] Hosp Gen Univ Gregorio Maranon, Child & Adolescent Psychiat Dept, Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain.
[Pousa, E.; Gisbert, L.; Pamias, M.] Univ Autonoma Barcelona, Univ Hosp, Bellaterra 08193, Spain.
[Mirapeix, I.; Marinas, L.] Univ Alcala De Henares, Dept Psychiat, Principe Asturias Univ Hosp, Madrid 28871, Spain.
RP Lahera, G (reprint author), Univ Alcala De Henares, Psychiat Med Special Dept, Fac Med, Campus Cient Tecnol, Madrid 28871, Spain.
EM guillermo.lahera@uah.es
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NR 67
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1886
EP 1896
DI 10.1007/s10803-014-2061-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400008
PM 24522969
ER
PT J
AU Lanning, BA
Baier, MEM
Ivey-Hatz, J
Krenek, N
Tubbs, JD
AF Lanning, Beth A.
Baier, Margaret E. Matyastik
Ivey-Hatz, Julie
Krenek, Nancy
Tubbs, Jack D.
TI Effects of Equine Assisted Activities on Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Equine assisted activities and therapies; Quality of life;
Therapeutic horseback riding
ID GENERIC CORE SCALES; SOCIAL-SKILLS; CHILDREN; METAANALYSIS; RELIABILITY;
VALIDITY; INTERVENTIONS; PSYCHOTHERAPY
AB Quality of life assessments were used in this study to determine the behavioral changes of children diagnosed with autism spectrum disorder (ASD) who participated in equine assisted activities. Behavioral changes of children with ASD participating in 9 weeks of equines assisted activities (EAA) (N = 10) were compared to behavioral changes of children who participated in a non-equine intervention (N = 8). Parents noted significant improvements in their child's physical, emotional and social functioning following the first 6 weeks of EAA. The children participating in the non-equine program also demonstrated improvement in behavior, but to a lesser degree. The favorable outcome of this study lends support for continuation of programs utilizing EAA in the treatment of children with ASD.
C1 [Lanning, Beth A.] Baylor Univ, Hlth Human Performance & Recreat Dept, Waco, TX 76798 USA.
[Baier, Margaret E. Matyastik] Baylor Univ, Dept Family & Consumer Sci, Waco, TX 76798 USA.
[Ivey-Hatz, Julie] Baylor Univ, Waco, TX 76798 USA.
[Krenek, Nancy] ROCK, Georgetown, TX USA.
[Tubbs, Jack D.] Baylor Univ, Dept Stat Sci, Waco, TX 76798 USA.
RP Lanning, BA (reprint author), Baylor Univ, Hlth Human Performance & Recreat Dept, One Bear Pl, Waco, TX 76798 USA.
EM Beth_Lanning@baylor.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 27
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1897
EP 1907
DI 10.1007/s10803-014-2062-5
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400009
PM 24526337
ER
PT J
AU Zaidman-Zait, A
Mirenda, P
Duku, E
Szatmari, P
Georgiades, S
Volden, J
Zwaigenbaum, L
Vaillancourt, T
Bryson, S
Smith, I
Fombonne, E
Roberts, W
Waddell, C
Thompson, A
AF Zaidman-Zait, Anat
Mirenda, Pat
Duku, Eric
Szatmari, Peter
Georgiades, Stelios
Volden, Joanne
Zwaigenbaum, Lonnie
Vaillancourt, Tracy
Bryson, Susan
Smith, Isabel
Fombonne, Eric
Roberts, Wendy
Waddell, Charlotte
Thompson, Ann
CA Pathways ASD Study Team
TI Examination of Bidirectional Relationships Between Parent Stress and Two
Types of Problem Behavior in Children with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Parenting stress; Externalizing behavior;
Internalizing behavior
ID INDEX-SHORT FORM; STONES TRIPLE-P; MATERNAL DEPRESSION; DEVELOPMENTAL
DELAY; PRESCHOOL-CHILDREN; YOUNG-CHILDREN; INTERVENTION; MOTHERS;
IMPACT; DISABILITIES
AB Path analysis within a structural equation modeling framework was employed to examine the relationships between two types of parent stress and children's externalizing and internalizing behaviors over a 4-year period, in a sample of 184 mothers of young children with autism spectrum disorder. Parent stress was measured with the Parenting Stress Index-Short Form and child behavior was measured with Child Behavior Checklist/1.5-5. Across all time points, parent general distress predicted both types of child behaviors, but not vice versa. In addition, there was modest evidence of a bidirectional relationship between parenting distress and both types of child behaviors from 12 months post-diagnosis to age 6. Results are compared to previous work in this area, with implications for early intervention.
C1 [Zaidman-Zait, Anat; Mirenda, Pat] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[Duku, Eric; Georgiades, Stelios; Thompson, Ann] McMaster Univ, Hamilton, ON, Canada.
[Szatmari, Peter] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON, Canada.
[Volden, Joanne; Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB, Canada.
[Vaillancourt, Tracy] Univ Ottawa, Ottawa, ON, Canada.
[Bryson, Susan; Smith, Isabel] Dalhousie Univ, IWK Hlth Sci Ctr, Halifax, NS, Canada.
[Fombonne, Eric] McGill Univ, Montreal, PQ, Canada.
[Roberts, Wendy] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Waddell, Charlotte] Simon Fraser Univ, Burnaby, BC V5A 1S6, Canada.
RP Zaidman-Zait, A (reprint author), Tel Aviv Univ, Sch Educ, POB 39040, IL-6997801 Tel Aviv, Israel.
EM anatzaidman@post.tau.ac.il
RI Vaillancourt, Tracy/F-8949-2015
CR Abidin RR, 1995, PARENTING STRESS IND
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American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
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Zimmerman I., 2002, PRESCHOOL LANGUAGE S, V4th
NR 64
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1908
EP 1917
DI 10.1007/s10803-014-2064-3
PG 10
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400010
PM 24550079
ER
PT J
AU Kulage, KM
Smaldone, AM
Cohn, EG
AF Kulage, Kristine M.
Smaldone, Arlene M.
Cohn, Elizabeth G.
TI How Will DSM-5 Affect Autism Diagnosis? A Systematic Literature Review
and Meta-analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE DSM-5; Autism spectrum disorder; PDD-NOS; Diagnosis; Public health
policy
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; IV-TR; PROPOSED
DSM-5; CHILDREN; CRITERIA; IDENTIFICATION; SPECIFICITY; SENSITIVITY;
TODDLERS
AB We conducted a systematic review and meta-analysis to determine the effect of changes to the Diagnostic and Statistical Manual (DSM)-5 on autism spectrum disorder (ASD) and explore policy implications. We identified 418 studies; 14 met inclusion criteria. Studies consistently reported decreases in ASD diagnosis (range 7.3-68.4 %) using DSM-5 criteria. There were statistically significant pooled decreases in ASD [31 % (20-44), p = 0.006] and DSM-IV-TR subgroups of Autistic disorder [22 % (16-29), p < 0.001] and pervasive developmental disorder-not otherwise specified (PDD-NOS) [70 % (55-82), p = 0.01]; however, Asperger's disorder pooled decrease was not significant [70 % (26-94), p = 0.38]. DSM-5 will likely decrease the number of individuals diagnosed with ASD, particularly the PDD-NOS subgroup. Research is needed on policies regarding services for individuals lacking diagnosis but requiring assistance.
C1 [Kulage, Kristine M.] Columbia Univ, Dept Hlth Policy & Management, Mailman Sch Publ Hlth, New York, NY 10032 USA.
[Kulage, Kristine M.] Columbia Univ, Off Scholarship & Res Dev, Sch Nursing, New York, NY 10032 USA.
[Smaldone, Arlene M.; Cohn, Elizabeth G.] Columbia Univ, Sch Nursing, New York, NY 10032 USA.
RP Kulage, KM (reprint author), Columbia Univ, Off Scholarship & Res Dev, Sch Nursing, 630 West 168th St,Box 6, New York, NY 10032 USA.
EM kk729@columbia.edu
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APA, 2012, DSM 5 AUT SPECTR DIS
APA, 2013, SOC PRAGM COMM DIS
APA, 2012, REC UPD PROP REV DSM
Autism Speaks, 2013, CT LEG PASS DSM V BI
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NR 47
TC 5
Z9 6
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1918
EP 1932
DI 10.1007/s10803-014-2065-2
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400011
PM 24531932
ER
PT J
AU Hoefman, R
Payakachat, N
van Exel, J
Kuhlthau, K
Kovacs, E
Pyne, J
Tilford, JM
AF Hoefman, Renske
Payakachat, Nalin
van Exel, Job
Kuhlthau, Karen
Kovacs, Erica
Pyne, Jeffrey
Tilford, J. Mick
TI Caring for a Child with Autism Spectrum Disorder and Parents' Quality of
Life: Application of the CarerQol
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Family caregiving; Subjective burden; Autism spectrum disorders (ASDs);
Quality of life; CarerQol; Construct validation
ID INFORMAL CARE; CAREGIVER BURDEN; STRESS PROLIFERATION; ECONOMIC
EVALUATIONS; DEPRESSED MOOD; MENTAL-HEALTH; IMPACT; FAMILY; ASD;
INSTRUMENT
AB This study describes the impact of caregiving on parents of children with autism spectrum disorders (ASDs). Secondly, we investigate construct validation of the care-related quality of life instrument (CarerQol) measuring impact of caregiving. Primary caregivers of children with ASDs were included. Many parents experienced considerable problems combining daily activities with care, had financial problems or suffered from depressive mood. Validity tests showed that a higher impact of caring on the CarerQol was positively associated with higher subjective burden and lower family quality of life. Most of the associations between CarerQol scores and background characteristics confirmed previous research. The CarerQol validly measures the impact of caregiving for children with ASDs on caregivers in our sample. The CarerQol may therefore be useful for including parent outcomes in research on ASDs.
C1 [Hoefman, Renske; van Exel, Job] Erasmus Univ, Inst Hlth Policy & Management, NL-3000 DR Rotterdam, Netherlands.
[Payakachat, Nalin] Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Little Rock, AR 72205 USA.
[Kuhlthau, Karen] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Kuhlthau, Karen] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, Boston, MA 02114 USA.
[Kovacs, Erica] Columbia Univ, Dept Psychiat, Div Child & Adolescent Psychiat, Med Ctr, New York, NY USA.
[Pyne, Jeffrey] Cent Arkansas Vet Healthcare Syst, Ctr Mental Hlth Outcomes Res, Little Rock, AR USA.
[Tilford, J. Mick] Univ Arkansas Med Sci, Dept Hlth Policy & Management, Little Rock, AR 72205 USA.
RP Hoefman, R (reprint author), Erasmus Univ, Inst Hlth Policy & Management, POB 1738, NL-3000 DR Rotterdam, Netherlands.
EM hoefman@bmg.eur.nl
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NR 57
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1933
EP 1945
DI 10.1007/s10803-014-2066-1
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400012
PM 24577786
ER
PT J
AU Medeiros, K
Winsler, A
AF Medeiros, Kristen
Winsler, Adam
TI Parent-Child Gesture Use During Problem Solving in Autistic Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Gesture; Receptive communication; Parent-child
interaction
ID JOINT ATTENTION; YOUNG-CHILDREN; COMMUNICATION DEVELOPMENT;
NONVERBAL-COMMUNICATION; LANGUAGE-DEVELOPMENT; PRESCHOOL-CHILDREN;
INFANT INTERACTION; INTERVENTION; SKILLS; BEHAVIORS
AB This study examined the relationship between child language skills and parent and child gestures of 58 youths with and without an autism spectrum disorder (ASD) diagnosis. Frequencies and rates of total gesture use as well as five categories of gestures (deictic, conventional, beat, iconic, and metaphoric) were reliably coded during the collaborative Tower of Hanoi task. Children with ASD had lower Peabody Picture Vocabulary Test scores and gestured less and at lower rates compared to typically developing children. Gesture use was unrelated to vocabulary for typically developing children, but positively associated with vocabulary for those with ASD. Demographic correlates of gesturing differed by group. Gesture may be a point of communication intervention for families with children with ASD.
C1 [Medeiros, Kristen] SUNY Coll New Paltz, New Paltz, NY 12561 USA.
[Winsler, Adam] George Mason Univ, Dept Psychol 3F5, Fairfax, VA 22030 USA.
RP Medeiros, K (reprint author), SUNY Coll New Paltz, 600 Hawk Dr,JFT 306, New Paltz, NY 12561 USA.
EM medeirok@newpaltz.edu; awinsler@gmu.edu
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NR 77
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1946
EP 1958
DI 10.1007/s10803-014-2069-y
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400013
PM 24535577
ER
PT J
AU van den Bergh, SFWM
Scheeren, AM
Begeer, S
Koot, HM
Geurts, HM
AF van den Bergh, Sanne F. W. M.
Scheeren, Anke M.
Begeer, Sander
Koot, Hans M.
Geurts, Hilde M.
TI Age Related Differences of Executive Functioning Problems in Everyday
Life of Children and Adolescents in the Autism Spectrum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ASD; Autism severity; Behavioral Rating Inventory Executive Functions
(BRIEF); Development; Executive functioning
ID BEHAVIOR RATING INVENTORY; LATENT-VARIABLE ANALYSIS; SPATIAL
WORKING-MEMORY; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT
HYPERACTIVITY DISORDER; MULTIPLE CASE SERIES; DEVELOPMENTAL DISORDERS;
CENTRAL COHERENCE; LATE CHILDHOOD; REAL-WORLD
AB Numerous studies investigated executive functioning (EF) problems in people with autism spectrum disorders (ASD) using laboratory EF tasks. As laboratory task performances often differ from real life observations, the current study focused on EF in everyday life of 118 children and adolescents with ASD (6-18 years). We investigated age-related and individual differences in EF problems as reported by parents on the Behavioral Rating Inventory Executive Functions (BRIEF: Gioia et al. in Behavior rating inventory of executive function. Psychological Assessment Resources, Odesse 2000), and examined the association with autism severity. Inhibition problems were mostly found in the youngest group (6- to 8-year-olds), whereas problems with planning where more evident for 12- to 14-year-olds as compared to 9- to 11-year-olds. In a subsample of participants meeting the ADOS ASD cut-off criteria the age related differences in planning were absent, while problems with cognitive flexibility were less apparent in 15- to 18-year-olds, compared to 9- to 11-, and 12- to 14-year olds. EF problems surpassing the clinical cutoff were only observed in 20 % (planning) to 51 % (cognitive flexibility) of the children and adolescents, and no relation was found with ASD symptom severity. This underlines the heterogeneous nature of ASD.
C1 [van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Dr Leo Kannerhuis, Autism Clin, Res & Dev, NL-6865 XZ Doorwerth, Netherlands.
[van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Univ Amsterdam, Dept Psychol Brain & Cognit, Amsterdam, Netherlands.
[van den Bergh, Sanne F. W. M.; Geurts, Hilde M.] Dutch Autism & ADHD Res Ctr dArc, NL-1018 XA Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] Vrije Univ Amsterdam, Dept Dev Psychol, Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] ARA, Amsterdam, Netherlands.
[Scheeren, Anke M.; Begeer, Sander; Koot, Hans M.] EMGO Inst Hlth & Care Res, NL-1081 BT Amsterdam, Netherlands.
[Begeer, Sander] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Geurts, Hilde M.] Cognit Sci Ctr Amsterdam, NL-1018 WS Amsterdam, Netherlands.
RP Geurts, HM (reprint author), Dr Leo Kannerhuis, Autism Clin, Res & Dev, Houtsniplaan 1, NL-6865 XZ Doorwerth, Netherlands.
EM s.f.w.m.vandenbergh@uva.nl; h.m.geurts@uva.nl
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NR 76
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1959
EP 1971
DI 10.1007/s10803-014-2071-4
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400014
PM 24562693
ER
PT J
AU Filipe, MG
Frota, S
Castro, SL
Vicente, SG
AF Filipe, Marisa G.
Frota, Sonia
Castro, Sao Luis
Vicente, Selene G.
TI Atypical Prosody in Asperger Syndrome: Perceptual and Acoustic
Measurements
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Asperger syndrome; Atypical prosody; Autism spectrum disorders;
Intonation
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; AUTOMATED
VOCAL ANALYSIS; LANGUAGE-ACQUISITION; SPECTRUM DISORDERS; REVISED
VERSION; CHILDREN; INTONATION; SPEECH; ADOLESCENTS
AB It is known that individuals with Asperger syndrome (AS) may show no problems with regard to what is said (e.g., lexical content) but tend to have difficulties in how utterances are produced, i.e., they may show prosodic impairments. In the present study, we focus on the use of prosodic features to express grammatical meaning. Specifically, we explored the sentence type difference between statements and questions that is conveyed by intonation, using perceptual and acoustic measurements. Children aged 8 and 9 years with AS (n = 12) were matched according to age and nonverbal intelligence with typically developing peers (n = 17). Although children with AS could produce categorically accurate prosodic patterns, their prosodic contours were perceived as odd by adult listeners, and acoustic measurements showed alterations in duration and pitch. Additionally, children with AS had greater variability in fundamental frequency contours compared to typically developing peers.
C1 [Filipe, Marisa G.; Castro, Sao Luis; Vicente, Selene G.] Univ Porto, Fac Psychol & Educ Sci, Speech Lab, P-4200135 Oporto, Portugal.
[Frota, Sonia] Univ Lisbon, Ctr Linguist, P-1600214 Lisbon, Portugal.
RP Filipe, MG (reprint author), Univ Porto, Fac Psychol & Educ Sci, Speech Lab, Rua Alfredo Allen, P-4200135 Oporto, Portugal.
EM labfala@fpce.up.pt
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, V4th, DOI [10.1176/appi.books.9780890423349, DOI 10.1176/APPI.BOOKS.9780890423349]
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World Health Organization, 1992, INT CLASS DIS 10 VER
NR 58
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1972
EP 1981
DI 10.1007/s10803-014-2073-2
PG 10
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400015
PM 24590408
ER
PT J
AU Zainal, H
Magiati, I
Tan, JWL
Sung, M
Fung, DSS
Howlin, P
AF Zainal, Hani
Magiati, Iliana
Tan, Julianne Wen-Li
Sung, Min
Fung, Daniel S. S.
Howlin, Patricia
TI A Preliminary Investigation of the Spence Children's Anxiety Parent
Scale as a Screening Tool for Anxiety in Young People with Autism
Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Anxiety; Assessment; Screening; Psychometric;
Measurement
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING CHILDREN;
PSYCHOMETRIC PROPERTIES; ASPERGER-SYNDROME; DISCRIMINANT VALIDITY;
PSYCHIATRIC-DISORDERS; INTERVIEW SCHEDULE; CONTROLLED-TRIAL;
ADOLESCENTS; YOUTH
AB Despite high rates of clinically elevated anxiety difficulties in children and adolescents with autism spectrum disorders (ASDs), very few studies have systematically examined the usefulness of commonly used caregiver report anxiety screening tools with this population. This study investigated the use of the Spence Children's Anxiety Scale-Parent version (SCAS-P) as a screening tool for anxiety disorders when compared to a standardized DSM-IV-TR-based clinical interview, the Kiddie-Schedule for Schizophrenia and Affective Disorders-Present and Lifetime version (K-SADS-PL). Thirty-two caregivers of youth with a clinical diagnosis of ASD (mean age 10.3 years) attending a specialist autism school participated in this study. They first completed the SCAS-P, a measure of adaptive functioning and a checklist of other emotional and behavioral difficulties. They were then interviewed with the K-SADS-PL. Internal consistency for the SCAS Total score was .88, but Cronbach's alphas were <.70 in three of the six SCAS-P subscales. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the SCAS-P against K-SADS diagnosis were .75, .71, .27, and .95, respectively. All values were >.70, except for the PPV. Evidence of convergent validity between the SCAS-P, K-SADS-PL and DBC anxiety subscale was also found. The high false positive rates notwithstanding, the preliminary data of acceptable to excellent sensitivity, specificity and NPV values tentatively suggest that the SCAS-P may be useful for screening non-help seeking young people with ASD for elevated anxiety symptoms. Further replication in larger studies is needed and ways in which the SCAS-P could be further developed and investigated for use with youth with ASD are discussed.
C1 [Zainal, Hani; Magiati, Iliana; Tan, Julianne Wen-Li] Natl Univ Singapore, Dept Psychol, Singapore 117570, Singapore.
[Sung, Min; Fung, Daniel S. S.] Inst Mental Hlth, Dept Child & Adolescent Psychiat, Buangkok, Singapore.
[Howlin, Patricia] Kings Coll London, Fac Hlth Sci, Inst Psychiat, London WC2R 2LS, England.
[Howlin, Patricia] Univ Sydney, Sydney, NSW 2006, Australia.
RP Magiati, I (reprint author), Natl Univ Singapore, Dept Psychol, AS4,9 Arts Link, Singapore 117570, Singapore.
EM psyim@nus.edu.sg
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NR 82
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1982
EP 1994
DI 10.1007/s10803-014-2075-0
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400016
PM 24573336
ER
PT J
AU Hus, V
Lord, C
AF Hus, Vanessa
Lord, Catherine
TI The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm
and Standardized Severity Scores
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Autism Diagnostic Observation Schedule;
Adults; Severity
ID SPECTRUM DISORDERS; ADULTS; INDIVIDUALS; ADOLESCENTS; INTERVIEW;
OUTCOMES; CHILDREN; AVERAGE; SCALE; IQ
AB The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4 algorithm and calibrates raw overall and domain totals to provide metrics of autism spectrum disorder (ASD) symptom severity. Sensitivity and specificity of the revised Module 4 algorithm exceeded 80 % in the overall sample. Module 4 calibrated severity scores provide quantitative estimates of ASD symptom severity that are relatively independent of participant characteristics. These efforts increase comparability of ADOS scores across modules and should facilitate efforts to examine symptom trajectories from toddler to adulthood.
C1 [Hus, Vanessa; Lord, Catherine] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA.
[Hus, Vanessa; Lord, Catherine] Univ Michigan, Autism & Commun Disorders Ctr, Ann Arbor, MI 48109 USA.
RP Hus, V (reprint author), Univ Michigan, Dept Psychol, 530 Church St, Ann Arbor, MI 48109 USA.
EM vhus@umich.edu
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NR 47
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 1996
EP 2012
DI 10.1007/s10803-014-2080-3
PG 17
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400018
PM 24590409
ER
PT J
AU Frazier, TW
Thompson, L
Youngstrom, EA
Law, P
Hardan, AY
Eng, C
Morris, N
AF Frazier, Thomas W.
Thompson, Lee
Youngstrom, Eric A.
Law, Paul
Hardan, Antonio Y.
Eng, Charis
Morris, Nathan
TI A Twin Study of Heritable and Shared Environmental Contributions to
Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Twins; Genetic; Heritability; Environment; Diagnosis
ID DE-NOVO MUTATIONS; MULTIPLE-REGRESSION ANALYSIS; COPY-NUMBER-VARIATION;
SPECTRUM DISORDERS; GENERAL-POPULATION; GENETIC ETIOLOGY;
INDIVIDUAL-DIFFERENCES; PATERNAL AGE; RISK-FACTORS; TRAITS
AB The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness Scale. Categorically-defined ASD was based on clinical diagnoses. DeFries-Fulker and liability threshold models examined etiologic influences. Very high heritability was observed for extreme autism symptom levels (). Extreme levels of social and repetitive behavior symptoms were strongly influenced by common genetic factors. Heritability of categorically-defined ASD diagnosis was comparatively low (.21, 95 % CI 0.15-0.28). High heritability of extreme autism symptom levels confirms previous observations of strong genetic influences on autism. Future studies will require large, carefully ascertained family pedigrees and quantitative symptom measurements.
C1 [Frazier, Thomas W.] Cleveland Clin, Ctr Autism, Cleveland, OH 44195 USA.
[Frazier, Thomas W.; Eng, Charis] Cleveland Clin, Genom Med Inst, Cleveland, OH 44195 USA.
[Thompson, Lee] Case Western Reserve Univ, Dept Psychol Sci, Cleveland, OH 44106 USA.
[Youngstrom, Eric A.] Univ N Carolina, Dept Psychol, Chapel Hill, NC USA.
[Law, Paul] Kennedy Krieger Inst, Dept Med Informat, Baltimore, MD USA.
[Law, Paul] Kennedy Krieger Inst, Interact Autism Network, Baltimore, MD USA.
[Hardan, Antonio Y.] Dept Psychiat & Behav Sci, Stanford, CA USA.
[Eng, Charis] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA.
[Morris, Nathan] Case Western Reserve Univ, Dept Epidemiol & Biostat, Cleveland, OH 44106 USA.
RP Frazier, TW (reprint author), Cleveland Clin, Ctr Autism, 9500 Euclid Ave, Cleveland, OH 44195 USA.
EM fraziet2@ccf.org
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NR 88
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2013
EP 2025
DI 10.1007/s10803-014-2081-2
PG 13
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400019
PM 24604525
ER
PT J
AU Doobay, AF
Foley-Nicpon, M
Ali, SR
Assouline, SG
AF Doobay, Alissa F.
Foley-Nicpon, Megan
Ali, Saba R.
Assouline, Susan G.
TI Cognitive, Adaptive, and Psychosocial Differences Between High Ability
Youth With and Without Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Gifted; Intelligence; Adaptive functioning; Psychosocial
ID HIGH-FUNCTIONING AUTISM; DEFICIT HYPERACTIVITY DISORDER;
INTELLECTUALLY-GIFTED-CHILDREN; ASPERGER-SYNDROME; COMMUNICATION
ABILITIES; PROCESSING SPEED; LEARNING-DISABILITIES/; WISC-IV;
INDIVIDUALS; STUDENTS
AB Research on Autism Spectrum Disorder (ASD) is thriving; however, scant empirical research has investigated how ASD manifests in high ability youth. Further research is necessary to accurately differentiate high ability students with ASD from those without the disorder, and thus decrease the risk of misdiagnosis. The purpose of the present study is to provide an empirical account of the intellectual, adaptive, and psychosocial functioning of high ability youth with and without ASD utilizing a group study design. Forty youth with high cognitive ability and ASD and a control group of 41 youth with high cognitive ability and no psychological diagnosis were included in the study. In comparison to the control group, the ASD group showed poorer functioning on measures of processing speed, adaptive skills, and broad psychological functioning, as perceived by parents and teachers. These findings have significant implications for diagnosing ASD among those with high ability, and the development of related psychological and educational interventions to address talent domains and areas of concern.
C1 [Doobay, Alissa F.; Foley-Nicpon, Megan; Assouline, Susan G.] Univ Iowa, Iowa City, IA 52242 USA.
[Ali, Saba R.] Univ Iowa, Iowa City, IA 52242 USA.
RP Doobay, AF (reprint author), Univ Iowa, 600 Blank Honors Ctr, Iowa City, IA 52242 USA.
EM alissa-doobay@uiowa.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 64
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2026
EP 2040
DI 10.1007/s10803-014-2082-1
PG 15
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400020
PM 24584434
ER
PT J
AU McGillivray, JA
Evert, HT
AF McGillivray, J. A.
Evert, H. T.
TI Group Cognitive Behavioural Therapy Program Shows Potential in Reducing
Symptoms of Depression and Stress Among Young People with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; CBT intervention; Group; Anxiety; Depression;
Stress; Negative and anxious self talk
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; RANDOMIZED
CONTROLLED-TRIAL; ASPERGER-SYNDROME; ANXIETY DISORDERS; SELF-STATEMENTS;
CHILDREN; INTERVENTION; YOUTH; CBT
AB We examined the efficacy of cognitive behavioural therapy (CBT) delivered in groups on the reduction of symptoms of depression, anxiety and stress in young people on the autism spectrum. Utilising a quasi-experimental design, comparisons were made between individuals allocated to a group intervention program and individuals allocated to a waitlist. Following the intervention program, participants who were initially symptomatic reported significantly lower depression and stress scores on the Depression Anxiety Stress Scales in comparison to individuals on the waitlist. There was no significant change in anxiety related symptoms. The benefits were maintained at 3 and 9 month follow-up. Our findings demonstrate the potential of CBT in a small group setting for assisting young people with ASD who have symptoms of depression and stress.
C1 [McGillivray, J. A.; Evert, H. T.] Deakin Univ, Sch Psychol, Ctr Mental Hlth & Wellbeing Res, Burwood, Vic 3125, Australia.
RP McGillivray, JA (reprint author), Deakin Univ, Sch Psychol, Ctr Mental Hlth & Wellbeing Res, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM jane.mcgillivray@deakin.edu.au
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NR 46
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2041
EP 2051
DI 10.1007/s10803-014-2087-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400021
PM 24634065
ER
PT J
AU Zhang, W
Yan, TT
Du, YS
Liu, XH
AF Zhang, Wei
Yan, Ting-ting
Du, Ya-song
Liu, Xiao-hong
TI Brief Report: Effects of Solution-Focused Brief Therapy Group-Work on
Promoting Post-traumatic Growth of Mothers Who Have a Child with ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mothers; Post-traumatic growth; Solution-focused brief therapy; Group
counseling
ID AUTISM SPECTRUM DISORDER; SOCIAL SUPPORT; STRESS; OPTIMISM
AB The study evaluated the impact of solution-focused brief therapy (SFBT) group-work on the post-traumatic growth (PTG) of mothers who have a child with ASD. A quasi-experimental design was used in which 43 mothers participated. 18 mothers in 2 SFBT groups (n = 9 in each group) received a 6-session SFBT group therapy while 25 mothers in a control group received no treatment. The Post-traumatic Growth Inventory was used to measure the PTG levels of the participants at baseline, post-treatment and 6-month follow-up assessments. Mothers who attended SFBT group-work reported higher PTG scores both at post-treatment (t = 4.065, p = .001) and 6-month follow-up (t = 2.980, p = .006) assessments. Further investigations to prove whether SFBT in groups can increase the positivity of clients would promote the use of SFBT.
C1 [Zhang, Wei; Yan, Ting-ting; Liu, Xiao-hong] Second Mil Med Univ, Sch Nursing, Shanghai 200433, Peoples R China.
[Du, Ya-song] Shanghai Mental Hlth Ctr, Shanghai, Peoples R China.
RP Liu, XH (reprint author), Second Mil Med Univ, Sch Nursing, 800 Xiangyin Rd, Shanghai 200433, Peoples R China.
EM xiaohongsmmu@126.com
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NR 20
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2052
EP 2056
DI 10.1007/s10803-014-2051-8
PG 5
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400022
PM 24488119
ER
PT J
AU Nuske, HJ
Vivanti, G
Dissanayake, C
AF Nuske, Heather J.
Vivanti, Giacomo
Dissanayake, Cheryl
TI Brief Report: Evidence for Normative Resting-State Physiology in Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Resting-state physiology; Autism; Pupillometry; Baseline; Eye-tracking;
Autonomic nervous system
ID SPECTRUM DISORDERS; AUTONOMIC RESPONSES; PUPIL SIZE; CHILDREN;
REACTIVITY; LANGUAGE; AROUSAL; FACES
AB Although the conception of autism as a disorder of abnormal resting-state physiology has a long history, the evidence remains mixed. Using state-of-the-art eye-tracking pupillometry, resting-state (tonic) pupil size was measured in children with and without autism. No group differences in tonic pupil size were found, and tonic pupil size was not related to age or cognitive ability in either group, and nor was it related to autistic symptoms. We suggest that previous findings of hyper-arousal in autism at baseline may be a product of different recording methods, in particular different movement-artifact removal techniques. These results question the notion that autism is associated with a fundamental dysregulation in resting-state physiology. Further research, employing such techniques is needed to confirm these findings.
C1 [Nuske, Heather J.; Vivanti, Giacomo; Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Melbourne, Vic 3086, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Melbourne, Vic 3086, Australia.
EM h.nuske@latrobe.edu.au; g.vivanti@latrobe.edu.au;
c.dissanayake@latrobe.edu.au
CR American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2057
EP 2063
DI 10.1007/s10803-014-2068-z
PG 7
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400023
PM 24550080
ER
PT J
AU Hartley, C
Allen, ML
AF Hartley, Calum
Allen, Melissa L.
TI Brief Report: Generalisation of Word-Picture Relations in Children with
Autism and Typically Developing Children
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Words; Understanding pictures; Generalisation; Shape bias;
Colour
ID DISORDERS; COMMUNICATION; LANGUAGE; SHAPE
AB We investigated whether low-functioning children with autism generalise labels from colour photographs based on sameness of shape, colour, or both. Children with autism and language-matched controls were taught novel words paired with photographs of unfamiliar objects, and then sorted pictures and objects into two buckets according to whether or not they were also referents of the newly-learned labels. Stimuli matched depicted referents on shape and/or colour. Children with autism extended labels to items that matched depicted objects on shape and colour, but also frequently generalised to items that matched on only shape or colour. Controls only generalised labels to items that matched the depicted referent's shape. Thus, low-functioning children with autism may not understand that shape constrains symbolic word-picture-object relations.
C1 [Hartley, Calum; Allen, Melissa L.] Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, Lancs, England.
RP Hartley, C (reprint author), Univ Lancaster, Dept Psychol, Lancaster LA1 4YF, Lancs, England.
EM hartleyc@exchange.lancs.ac.uk
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NR 22
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD AUG
PY 2014
VL 44
IS 8
BP 2064
EP 2071
DI 10.1007/s10803-014-2074-1
PG 8
WC Psychology, Developmental
SC Psychology
GA AM3DN
UT WOS:000339732400024
PM 24557810
ER
PT J
AU McGrath, LM
Yu, DM
Marshall, C
Davis, LK
Thiruvahindrapuram, B
Li, BB
Cappi, C
Gerber, G
Wolf, A
Schroeder, FA
Osiecki, L
O'Dushlaine, C
Kirby, A
Illmann, C
Haddad, S
Gallagher, P
Fagerness, JA
Barr, CL
Bellodi, L
Benarroch, F
Bienvenu, OJ
Black, DW
Bloch, MH
Bruun, RD
Budman, CL
Camarena, B
Cath, DC
Cavallini, MC
Chouinard, S
Coric, V
Cullen, B
Delorme, R
Denys, D
Derks, EM
Dion, Y
Rosario, MC
Eapen, V
Evans, P
Falkai, P
Fernandez, TV
Garrido, H
Geller, D
Grabe, HJ
Grados, MA
Greenberg, BD
Gross-Tsur, V
Gruenblatt, E
Heiman, GA
Hemmings, SMJ
Herrera, LD
Hounie, AG
Jankovic, J
Kennedy, JL
King, RA
Kurlan, R
Lanzagorta, N
Leboyer, M
Leckman, JF
Lennertz, L
Lochner, C
Lowe, TL
Lyon, GJ
Macciardi, F
Maier, W
McCracken, JT
McMahon, W
Murphy, DL
Naarden, AL
Neale, BM
Nurmi, E
Pakstis, AJ
Pato, MT
Pato, CN
Piacentini, J
Pittenger, C
Pollak, Y
Reus, VI
Richter, MA
Riddle, M
Robertson, MM
Rosenberg, D
Rouleau, GA
Ruhrmann, S
Sampaio, AS
Samuels, J
Sandor, P
Sheppard, B
Singer, HS
Smit, JH
Stein, DJ
Tischrield, JA
Vallada, H
Veenstra-VanderWeele, J
Walitza, S
Wang, Y
Wendfand, JR
Shugart, YY
Miguel, EC
Nicolini, H
Oostra, BA
Moessner, R
Wagner, M
Ruiz-Linares, A
Heutink, P
Nestadt, G
Freimer, N
Petryshen, T
Posthuma, D
Jenike, MA
Cox, NJ
Hanna, GL
Brentani, H
Scherer, SW
Arnold, PD
Stewart, SE
Mathews, CA
Knowles, JA
Cook, EH
Pauls, DL
Wang, K
Scharf, JM
AF McGrath, Lauren M.
Yu, Dongmei
Marshall, Christian
Davis, Lea K.
Thiruvahindrapuram, Bhooma
Li, Bingbin
Cappi, Carolina
Gerber, Gloria
Wolf, Aaron
Schroeder, Frederick A.
Osiecki, Lisa
O'Dushlaine, Colm
Kirby, Andrew
Illmann, Cornelia
Haddad, Stephen
Gallagher, Patience
Fagerness, Jesen A.
Barr, Cathy L.
Bellodi, Laura
Benarroch, Fortu
Bienvenu, O. Joseph
Black, Donald W.
Bloch, Michael H.
Bruun, Ruth D.
Budman, Cathy L.
Camarena, Beatriz
Cath, Danielle C.
Cavallini, Maria C.
Chouinard, Sylvain
Coric, Vladimir
Cullen, Bernadette
Delorme, Richard
Denys, Damiaan
Derks, Eske M.
Dion, Yves
Rosario, Maria C.
Eapen, Valsama
Evans, Patrick
Falkai, Peter
Fernandez, Thomas V.
Garrido, Helena
Geller, Daniel
Grabe, Hans J.
Grados, Marco A.
Greenberg, Benjamin D.
Gross-Tsur, Varda
Gruenblatt, Edna
Heiman, Gary A.
Hemmings, Sian M. J.
Herrera, Luis D.
Hounie, Ana G.
Jankovic, Joseph
Kennedy, James L.
King, Robert A.
Kurlan, Roger
Lanzagorta, Nuria
Leboyer, Marion
Leckman, James F.
Lennertz, Leonhard
Lochner, Christine
Lowe, Thomas L.
Lyon, Gholson J.
Macciardi, Fabio
Maier, Wolfgang
McCracken, James T.
McMahon, William
Murphy, Dennis L.
Naarden, Allan L.
Neale, Benjamin M.
Nurmi, Erika
Pakstis, Andrew J.
Pato, Michele T.
Pato, Carlos N.
Piacentini, John
Pittenger, Christopher
Pollak, Yehuda
Reus, Victor I.
Richter, Margaret A.
Riddle, Mark
Robertson, Mary M.
Rosenberg, David
Rouleau, Guy A.
Ruhrmann, Stephan
Sampaio, Aline S.
Samuels, Jack
Sandor, Paul
Sheppard, Brooke
Singer, Harvey S.
Smit, Jan H.
Stein, Dan J.
Tischrield, Jay A.
Vallada, Homero
Veenstra-VanderWeele, Jeremy
Walitza, Susanne
Wang, Ying
Wendfand, Jens R.
Shugart, Yin Yao
Miguel, Euripedes C.
Nicolini, Humberto
Oostra, Ben A.
Moessner, Rainald
Wagner, Michael
Ruiz-Linares, Andres
Heutink, Peter
Nestadt, Gerald
Freimer, Nelson
Petryshen, Tracey
Posthuma, Danielle
Jenike, Michael A.
Cox, Nancy J.
Hanna, Gregory L.
Brentani, Helena
Scherer, Stephen W.
Arnold, Paul D.
Stewart, S. Evelyn
Mathews, Carol A.
Knowles, James A.
Cook, Edwin H.
Pauls, David L.
Wang, Kai
Scharf, Jeremiah M.
TI Copy Number Variation in Obsessive-Compulsive Disorder and Tourette
Syndrome: A Cross-Disorder Study
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Tourette syndrome; obsessive-compulsive disorder; copy number variation;
genetics; 16p13.11
ID RARE CHROMOSOMAL DELETIONS; GENOME-WIDE ASSOCIATION; DE-NOVO CNVS;
DEVELOPMENTAL-DISABILITIES; 16P13.11 PREDISPOSE; VARIANTS; DUPLICATIONS;
AUTISM; SCHIZOPHRENIA; GENETICS
AB Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.
C1 [Haddad, Stephen; Fagerness, Jesen A.; Petryshen, Tracey] Massachusetts Gen Hosp, Boston, MA 02114 USA.
[Stewart, S. Evelyn] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[McGrath, Lauren M.] Amer Univ, Washington, DC 20016 USA.
[Scharf, Jeremiah M.] Brigham & Womens Hosp, Boston, MA 02115 USA.
[McGrath, Lauren M.; O'Dushlaine, Colm; Neale, Benjamin M.] Harvard Brood Inst, Boston, MA USA.
[Marshall, Christian; Barr, Cathy L.] Univ Toronto, Toronto, ON, Canada.
[Marshall, Christian; Barr, Cathy L.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Schroeder, Frederick A.; Barr, Cathy L.] Univ Hlth Network, Toronto Western Res Inst, Toronto, ON, Canada.
[Kennedy, James L.] Ctr Addict & Mental Hlth, Toronto, ON, Canada.
[Davis, Lea K.; Evans, Patrick] Univ Chicago, Chicago, IL 60637 USA.
[Vallada, Homero; Miguel, Euripedes C.] Univ Sao Paulo, Med School, BR-05508 Sao Paulo, Brazil.
[Bellodi, Laura] Univ Vita Salute Son Raffaele, Milan, Italy.
[Benarroch, Fortu] Hadassah Hebrew Univ, Med Ctr, Jerusalem, Israel.
[Bienvenu, O. Joseph; Cullen, Bernadette; Grados, Marco A.; Samuels, Jack; Singer, Harvey S.; Nestadt, Gerald] Johns Hopkins Univ, Sch Med, Baltimore, MD USA.
[Black, Donald W.] Univ Iowa, Coll Med, Iowa City, IA USA.
[Bloch, Michael H.; Coric, Vladimir; Fernandez, Thomas V.; Leckman, James F.; Pakstis, Andrew J.; Pittenger, Christopher] Yale Univ, Sch Med, New Haven, CT USA.
[Bruun, Ruth D.; Budman, Cathy L.] North Shore Long Isl Jewish Med Ctr, New Hyde Pk, NY USA.
[Budman, Cathy L.] Hofstra Univ, Sch Med, Hempstead, NY USA.
[Bruun, Ruth D.] NYU, Med Ctr, New York, NY 10016 USA.
[Camarena, Beatriz] Inst Nacl Psiquiatria Ramon Fuente Muniz, Mexico City, DF, Mexico.
[Cath, Danielle C.] Univ Utrecht, Amsterdam, Netherlands.
[Cath, Danielle C.] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands.
[Smit, Jan H.] Vrije Univ Amsterdam, Amsterdam, Netherlands.
[Cavallini, Maria C.] Osped San Raffoe, Milan, Italy.
[Chouinard, Sylvain; Dion, Yves] Univ Montreal, Montreal, PQ H3C 3J7, Canada.
[Delorme, Richard; Leboyer, Marion] Robert Debre Univ Hosp, Paris, France.
[Delorme, Richard; Dion, Yves] French Notional Sci Fdn, Creteil, France.
[Delorme, Richard] Inst Pasteur, Paris, France.
[Leboyer, Marion] Inst Mondor Rech Biomed, Creteil, France.
[Denys, Damiaan] Netherlands Inst Neurosci, Amsterdam, Netherlands.
[Denys, Damiaan; Derks, Eske M.] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands.
[Sampaio, Aline S.] Univ Fed Sao Paulo, Sao Paulo, Brazil.
[Sampaio, Aline S.] Univ Fed Bahia, Salvador, BA, Brazil.
[Eapen, Valsama] Univ New S Wales, Sydney, NSW 2052, Australia.
[Falkai, Peter] Univ Munich, D-81377 Munich, Germany.
[Garrido, Helena] Hosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose, Costa Rica.
[Garrido, Helena] Clin Herrera Amighetti, San Jose, Costa Rica.
[Grabe, Hans J.] Univ Med Greifswald, Greifswold, Germany.
[Greenberg, Benjamin D.] Brown Med Sch, Providence, RI USA.
[Gross-Tsur, Varda; Pollak, Yehuda] Shoare Zedek Med Ctr, Jerusalem, Israel.
[Gruenblatt, Edna] Univ Zurich, CH-8006 Zurich, Switzerland.
[Walitza, Susanne] Univ Wurzburg, Wurzburg, Germany.
[Heiman, Gary A.] Rutgers State Univ, Piscataway Township, NJ USA.
[Jankovic, Joseph] Baylor Coll Med, Houston, TX 77030 USA.
[Kurlan, Roger] Atlant Neurosci Inst, Summit, NJ USA.
[Lanzagorta, Nuria] Corracci Med Grp, Mexico City, DF, Mexico.
[Lennertz, Leonhard; Maier, Wolfgang; Wagner, Michael] Univ Bonn, Bonn, Germany.
[Hemmings, Sian M. J.] Univ Stellenbosch, ZA-7600 Stellenbosch, South Africa.
[Lowe, Thomas L.; Sheppard, Brooke] Univ Calif San Francisco, San Francisco, CA 94143 USA.
[Lyon, Gholson J.] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.
[McCracken, James T.] Univ Calif Irvine, Irvine, CA USA.
[Freimer, Nelson] Univ Calif Los Angeles, Sch Med, Los Angeles, CA 90024 USA.
[Freimer, Nelson] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA.
[McMahon, William] Univ Utah, Salt Lake City, UT USA.
[Murphy, Dennis L.; Wendfand, Jens R.] NIMH, Intramural Res Program, Bethesda, MD 20892 USA.
[Naarden, Allan L.] Med City Dallas Hosp, Dallas, TX USA.
[Pato, Michele T.; Pato, Carlos N.; Wang, Ying] Zilkho Neurogenet Inst, Los Angeles, CA USA.
[Richter, Margaret A.] Sunnybrook Hlth Sci Ctr, Toronto, ON M4N 3M5, Canada.
[Robertson, Mary M.] UCL, London, England.
[Rosenberg, David] Wayne State Univ, Detroit, MI USA.
[Rosenberg, David] Detroit Med Ctr, Detroit, MI USA.
[Rouleau, Guy A.] Montreal Neurol Inst, Montreal, PQ, Canada.
[Ruhrmann, Stephan] Univ Cologne, Cologne, Germany.
[Smit, Jan H.] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands.
[Stein, Dan J.] Univ Cape Town, Rondebosch, South Africa.
[Veenstra-VanderWeele, Jeremy] Vanderbilt Univ, Nashville, TN 37235 USA.
[Oostra, Ben A.] Erasmus MC, Rotterdam, Netherlands.
[Heutink, Peter] German Ctr Neurodegenerat Dis, Bonn, Germany.
[Heutink, Peter] VU Med Ctr Amsterdam, Amsterdam, Netherlands.
[Posthuma, Danielle] VU Amsterdam & Erasmus Univ, Med Ctr, Rotterdam, Netherlands.
[Hanna, Gregory L.] Univ Michigan, Ann Arbor, MI 48109 USA.
[Cook, Edwin H.] Univ Illinois, Chicago, IL USA.
RP Scharf, JM (reprint author), Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, 185 Cambridge St, Boston, MA 02114 USA.
EM ischarf@partners.org
RI Scherer, Stephen /B-3785-2013; Stewart, Evelyn/K-6961-2014; Vallada,
Homero/D-1333-2014; Nurmi, Erika/P-4627-2014; Stein, Dan/A-1752-2008
OI Scherer, Stephen /0000-0002-8326-1999; Vallada,
Homero/0000-0001-5123-8295; Nurmi, Erika/0000-0003-4893-8957; Stein,
Dan/0000-0001-7218-7810
FU David Judah Fund; Tourette Syndrome Association; International OCD
Foundation; National Institutes of Health [TSA International Consortium
for Genetics] [U01NS40024, R01NS16648, R01MH079489, MH073250,
K23MH085057, T32MH16259, NS037484, P30NS062691, K20MH01065, R01MH58376,
R01MH092293]; American Recovery and Re-investment Act (ARRA) awards
[NS40024-07S1, NS16648-29S1]; New Jersey Center for Tourette Syndrome
and Associated Disorders; German Research Foundation (DFG) [Fa 241/6-1];
Ontario Mental Health Foundation; NIH Genes, Environment and Health
Initiative (GEI) [U01 HG004422]; Gene Environment Association Studies
(GENEVA) under GEI; NIH GEI [U01HG004438]; National Institute on Alcohol
Abuse and Alcoholism; National Institute on Drug Abuse; NIH contract
"High throughput genotyping for studying the genetic contributions to
human disease" [HHSN268200782096C]; [T32MH018268]
FX This work was supported by grants from the David Judah Fund, the
Tourette Syndrome Association, the International OCD Foundation, and
National Institutes of Health (U01NS40024: [D.L.P./J.M.S/TSA
International Consortium for Genetics]; R01NS16648, R01MH079489, and
MH073250 [D.L.P.]; K23MH085057 [J.M.S.]; T32MH16259 [L.M.M.]; NS037484
and P30NS062691 [N.B.F.]; K20MH01065 and R01MH58376 (G.L.H.);
R01MH092293 [G.A.H./R.A.K./J.A.T.]). Support also came from American
Recovery and Re-investment Act (ARRA) awards NS40024-07S1 and
NS16648-29S1 (D.L.P.). This work was also supported by grants from the
New Jersey Center for Tourette Syndrome and Associated Disorders, the
German Research Foundation (Fa 241/6-1; DFG), the Ontario Mental Health
Foundation (M.A.R. and J.L.K.), and T32MH018268 (J.F.L.). Funding
support for the Study of Addiction: Genetics and Environment (SAGE) was
provided through the NIH Genes, Environment and Health Initiative (GEI;
U01 HG004422). SAGE is 1 of the genome-wide association studies funded
as part of the Gene Environment Association Studies (GENEVA) under GEI.
Assistance with phenotype harmonization and genotype cleaning, as well
as with general study coordination, was provided by the GENEVA
Coordinating Center (U01 HG004446). Assistance with data cleaning was
provided by the National Center for Biotechnology Information. Support
for collection of datasets and samples was provided by the Collaborative
Study on the Genetics of Alcoholism (COGA; U10M008401), the
Collaborative Genetic Study of Nicotine Dependence (COGEND; P01
CA089392), and the Family Study of Cocaine Dependence (FSCD; R01
DA013423). Funding support for genotyping, which was performed at the
Johns Hopkins University Center for Inherited Disease Research, was
provided by the NIH GEI (U01HG004438), the National Institute on Alcohol
Abuse and Alcoholism, the National Institute on Drug Abuse, and the NIH
contract "High throughput genotyping for studying the genetic
contributions to human disease" (HHSN268200782096C) The datasets used
for the analyses described in this manuscript were obtained from dbGaP
at
http://www.ncbi.nlm.nlh.gov/projects/gap/cgibin/study.cgi?study_id=phs00
0092.vl.pl through dbGaP accession number phs000092.vl p None of the
funding agencies for this protect had any influence on the design or
conduct of the study; the management, analysis, or interpretation of the
data; or the preparation, review, or approval of the manuscript.
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NR 40
TC 5
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0890-8567
EI 1527-5418
J9 J AM ACAD CHILD PSY
JI J. Am. Acad. Child Adolesc. Psychiatr.
PD AUG
PY 2014
VL 53
IS 8
BP 910
EP 919
DI 10.1016/j.jaac.2014.04.022
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AM5WY
UT WOS:000339932900011
PM 25062598
ER
PT J
AU Grove, R
Baillie, A
Allison, C
Baron-Cohen, S
Hoekstra, RA
AF Grove, Rachel
Baillie, Andrew
Allison, Carrie
Baron-Cohen, Simon
Hoekstra, Rosa A.
TI The latent structure of cognitive and emotional empathy in individuals
with autism, first-degree relatives and typical individuals
SO MOLECULAR AUTISM
LA English
DT Article
DE Empathy; autism; broader autism phenotype; factor analysis
ID SPECTRUM QUOTIENT AQ; HIGH-FUNCTIONING AUTISM; MALE BRAIN THEORY;
ASPERGER-SYNDROME; PSYCHOMETRIC ANALYSIS; FAMILY-HISTORY; NORMAL ADULTS;
FIT INDEXES; VALIDITY; MIND
AB Background: Empathy is a vital component for social understanding involving the ability to recognise emotion (cognitive empathy) and provide an appropriate affective response (emotional empathy). Autism spectrum conditions have been described as disorders of empathy. First-degree relatives may show some mild traits of the autism spectrum, the broader autism phenotype (BAP). Whether both cognitive and emotional empathy, rather than cognitive empathy alone, are impaired in autism and the BAP is still under debate. Moreover the association between various aspects of empathy is unclear. This study aims to examine the relationship between different components of empathy across individuals with varying levels of genetic vulnerability to autism.
Methods: Factor analyses utilising questionnaire and performance-based task data were implemented among individuals with autism, parents of a child with autism and controls. The relationship between performance-based tasks and behavioural measures of empathy was also explored.
Results: A four-factor model including cognitive empathy, emotional empathy, social skills and a performance-based factor fitted the data best irrespective of genetic vulnerability. Individuals with autism displayed impairment on all four factors, with parents showing intermediate difficulties. Performance-based measures of empathy were related in almost equal magnitude to cognitive and emotional empathy latent factors and the social skills factor.
Conclusions: This study suggests individuals with autism have difficulties with multiple facets of empathy, while parents show intermediate impairments, providing evidence for a quantitative BAP. Impaired scores on performance-based measures of empathy, often thought to be pure measures of cognitive empathy, were also related to much wider empathy difficulties than impairments in cognitive empathy alone.
C1 [Grove, Rachel; Baillie, Andrew] Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
[Allison, Carrie; Baron-Cohen, Simon; Hoekstra, Rosa A.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge, England.
[Hoekstra, Rosa A.] Open Univ, Fac Sci, Milton Keynes MK7 6AA, Bucks, England.
RP Grove, R (reprint author), Macquarie Univ, Dept Psychol, Ctr Emot Hlth, Sydney, NSW 2109, Australia.
EM rachel.grove@mq.edu.au
FU Medical Research Council (UK); National Health and Medical Research
Council (Australia) [1017041]
FX Acknowledgements We thank the individuals who participated in the study.
This work was conducted in association with the NIHR CLAHRC for
Cambridgeshire and Peterborough NHS Foundation Trust. We acknowledge
support from the Medical Research Council (UK) (program grant to SB-C).
RG was supported by a National Health and Medical Research Council
(Australia) Postgraduate Scholarship (#1017041).
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NR 60
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD AUG 1
PY 2014
VL 5
AR 42
DI 10.1186/2040-2392-5-42
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AM6KY
UT WOS:000339975000001
PM 25101164
ER
PT J
AU Ladd-Acosta, C
Hansen, KD
Briem, E
Fallin, MD
Kaufmann, WE
Feinberg, AP
AF Ladd-Acosta, C.
Hansen, K. D.
Briem, E.
Fallin, M. D.
Kaufmann, W. E.
Feinberg, A. P.
TI Common DNA methylation alterations in multiple brain regions in autism
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autism; brain; DNA methylation; epigenome; 450 k
ID PAROXYSMAL KINESIGENIC DYSKINESIA; FAMILIAL INFANTILE CONVULSIONS; COPY
NUMBER VARIATION; EMBRYONIC STEM-CELLS; CPG ISLAND SHORES; SPECTRUM
DISORDERS; RHEUMATOID-ARTHRITIS; FUNCTIONAL VARIANTS; WIDE ASSOCIATION;
MUTATIONS
AB Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485 000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
C1 [Ladd-Acosta, C.; Fallin, M. D.] Johns Hopkins Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA.
[Ladd-Acosta, C.; Hansen, K. D.; Briem, E.; Fallin, M. D.; Feinberg, A. P.] Johns Hopkins Sch Med, Inst Basic Biomed Sci, Ctr Epigenet, Baltimore, MD 21205 USA.
[Hansen, K. D.] Johns Hopkins Sch Publ Hlth, Dept Biostat, Baltimore, MD USA.
[Hansen, K. D.] Johns Hopkins Sch Publ Hlth, Inst Med Genet, Baltimore, MD USA.
[Briem, E.; Feinberg, A. P.] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA.
[Kaufmann, W. E.] Kennedy Krieger Inst, Baltimore, MD USA.
RP Feinberg, AP (reprint author), Johns Hopkins Sch Med, Inst Basic Biomed Sci, Ctr Epigenet, 855N Wolfe St,Rangos 570, Baltimore, MD 21205 USA.
EM afeinberg@jhu.edu
FU US National Institutes of Health Centers of Excellence in Genomic
Science [5P50HG003233]; Department of Defense (CDMRP) [AR080125]
FX We thank Daniel Geschwind and Neelroop Parikshak for sharing the PFC and
TC samples, obtained from the Autism Tissue Program (ATP) of Autism
Speaks, for these analyses. In addition, we would also like to thank the
NICHD Brain and Tissue Bank for Neurodevelopmental Disorders at The
University of Maryland for providing brain samples from the CBL brain
region. This work was supported by the US National Institutes of Health
Centers of Excellence in Genomic Science, 5P50HG003233 to APF and
Department of Defense (CDMRP) AR080125 to APF and WEK.
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NR 82
TC 19
Z9 21
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 862
EP 871
DI 10.1038/mp.2013.114
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200006
PM 23999529
ER
PT J
AU Kenny, EM
Cormican, P
Furlong, S
Kenny, EHG
Fahey, C
Kelleher, E
Ennis, S
Tropea, D
Anney, R
Corvin, P
Donohoe, G
Gallagher, L
Gill, M
Morris, DW
AF Kenny, E. M.
Cormican, P.
Furlong, S.
Kenny, E. Heron G.
Fahey, C.
Kelleher, E.
Ennis, S.
Tropea, D.
Anney, R.
Corvin, P.
Donohoe, G.
Gallagher, L.
Gill, M.
Morris, D. W.
TI Excess of rare novel loss-of-function variants in synaptic genes in
schizophrenia and autism spectrum disorders
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE autism; loss-of-function; mutation; schizophrenia; sequencing; synapse
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; PERVASIVE DEVELOPMENTAL
DISORDERS; GENOME-WIDE ASSOCIATION; LONG-TERM POTENTIATION; RECURRENT
REARRANGEMENTS; BIPOLAR DISORDER; TYROSINE KINASE; NMDA RECEPTORS;
RISK-FACTOR
AB Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and Neuroligin Interacting Proteins, (2) Post-synaptic Glutamate Receptor Complexes, (3) Neural Cell Adhesion Molecules, (4) DISC1 and Interactors and (5) Functional and Positional Candidates. Thirty-one novel loss-of-function (LoF) variants that are predicted to severely disrupt protein-coding sequence were detected among 2 861 rare variants. We found an excess of LoF variants in the combined cases compared with controls (P = 0.02). This effect was stronger when analysis was limited to singleton LoF variants (P = 0.0007) and the excess was present in both SZ (P = 0.002) and ASD (P = 0.001). As an individual gene category, Neurexin and Neuroligin Interacting Proteins carried an excess of LoF variants in cases compared with controls (P = 0.05). A de novo nonsense variant in GRIN2B was identified in an ASD case adding to the growing evidence that this is an important risk gene for the disorder. These data support synapse formation and maintenance as key molecular mechanisms for SZ and ASD.
C1 [Kenny, E. M.; Cormican, P.; Furlong, S.; Kenny, E. Heron G.; Fahey, C.; Kelleher, E.; Tropea, D.; Anney, R.; Corvin, P.; Donohoe, G.; Gallagher, L.; Gill, M.; Morris, D. W.] Univ Dublin Trinity Coll, Inst Mol Med, Dept Psychiat, Neuropsychiat Genet Res Grp, Dublin 2, Ireland.
[Ennis, S.] Univ Coll Dublin, Sch Med & Med Sci, Dublin 2, Ireland.
RP Morris, DW (reprint author), St James Hosp, Inst Mol Med, Dept Psychiat, Neuropsychiat Genet Res Grp, Room 0-80, Dublin 8, Ireland.
EM derek.morris@tcd.ie
FU Health Research Board (HRB Ireland) [HRA/2009/45]; Science Foundation
Ireland (SFI) [08/IN.1/B1916]; SFI [07/RFP/GEN/F327/EC07]; HRB 4-Year
PhD Programme in Molecular Medicine at TCD; Trinity Centre for High
Performance Computing; Health Research Board (Ireland)
FX We sincerely thank all patients who contributed to this study and all
staff who facilitated their involvement. Funding for this study was
provided by the Health Research Board (HRB Ireland; HRA/2009/45) and
Science Foundation Ireland (SFI; 08/IN.1/B1916). Next-generation
sequencing was performed in TrinSeq (Trinity Genome Sequencing
Laboratory; http://www.medicine.tcd.ie/sequencing), a core facility
funded by SFI under Grant No. [07/RFP/GEN/F327/EC07] to Dr Morris. Ms
Furlong's PhD studentship is funded by the HRB 4-Year PhD Programme in
Molecular Medicine at TCD. We acknowledge use of the Trinity Biobank
control sample and support from the Trinity Centre for High Performance
Computing. This work was supported by grant funding from the Health
Research Board (Ireland).
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NR 86
TC 14
Z9 14
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 872
EP 879
DI 10.1038/mp.2013.127
PG 8
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200007
PM 24126926
ER
PT J
AU Gershon, ES
Grennan, K
Busnello, J
Badner, JA
Ovsiew, F
Memon, S
Alliey-Rodriguez, N
Cooper, J
Romanos, B
Liu, C
AF Gershon, E. S.
Grennan, K.
Busnello, J.
Badner, J. A.
Ovsiew, F.
Memon, S.
Alliey-Rodriguez, N.
Cooper, J.
Romanos, B.
Liu, C.
TI A rare mutation of CACNA1C in a patient with bipolar disorder, and
decreased gene expression associated with a bipolar-associated common
SNP of CACNA1C in brain
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE bipolar disorder; Timothy syndrome; calcium channel blockers; CACNA1C;
long QT syndrome
ID TIMOTHY-SYNDROME MUTATION; CALCIUM-CHANNEL BLOCKERS; NEUROPATHOLOGY
CONSORTIUM; MAJOR DEPRESSION; HEART-FAILURE; MOUSE MODEL; SCHIZOPHRENIA;
INACTIVATION; CEREBELLUM; POLYMORPHISMS
AB Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism and major developmental delays in many of the patients. We observed the appearance of bipolar disorder (BD) in a patient with a previously reported case of TS, who is one of the very few patients to survive childhood. This is most interesting because the common single-nucleotide polymorphism (SNP) most highly associated with BD is rs1006737, which we show here is a cis-expression quantitative trait locus for CACNA1C in human cerebellum, and the risk allele (A) is associated with decreased expression. To combine the CACNA1C perturbations in the presence of BD in this patient and in patients with the common CACNA1C SNP risk allele, we would propose that either increase or decrease in calcium influx in excitable cells can be associated with BD. In treatment of BD with calcium channel blocking drugs, we would predict better response in patients without the risk allele, because they have increased CACNA1C expression.
C1 [Gershon, E. S.; Grennan, K.; Busnello, J.; Badner, J. A.; Ovsiew, F.; Alliey-Rodriguez, N.; Cooper, J.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
[Memon, S.] Northwestern Univ, Dept Psychiat & Behav Sci, Chicago, IL 60611 USA.
[Romanos, B.; Liu, C.] Univ Illinois, Dept Psychiat, Chicago, IL 60607 USA.
[Liu, C.] Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China.
RP Gershon, ES (reprint author), Univ Chicago, Dept Psychiat, 5841 S Maryland Ave MC3077, Chicago, IL 60637 USA.
EM egershon@yoda.bsd.uchicago.edu; liucsxx@gmail.com
FU NIMH [1R01MH094483-01]; NIH [1R01MH080425]; Geraldi Norton Memorial
Foundation; Eklund family
FX This work was supported by NIMH 1R01MH094483-01 (Dr Gershon) and NIH
1R01MH080425 (Dr Liu), Geraldi Norton Memorial Foundation, Eklund
family.
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NR 43
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD AUG
PY 2014
VL 19
IS 8
BP 890
EP 894
DI 10.1038/mp.2013.107
PG 5
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AM7IR
UT WOS:000340040200009
PM 23979604
ER
PT J
AU Gauglerl, T
Klei, L
Sanders, SJ
Bodea, CA
Goldberg, AP
Lee, AB
Mahajan, ML
Manaa, D
Pawitan, YD
Reichert, J
Ripke, S
Sandin, S
Sklar, P
Svantesson, O
Reichenberg, A
Hultman, CM
Devlin, B
Roeder, K
Buxbaum, JD
AF Gauglerl, Trent
Klei, Lambertus
Sanders, Stephan J.
Bodea, Corneliu A.
Goldberg, Arthur P.
Lee, Ann B.
Mahajan, Milind
Manaa, Dina
Pawitan, Yudi
Reichert, Jennifer
Ripke, Stephan
Sandin, Sven
Sklar, Pamela
Svantesson, Oscar
Reichenberg, Abraham
Hultman, Christina M.
Devlin, Bernie
Roeder, Kathryn
Buxbaum, Joseph D.
TI Most genetic risk for autism resides with common variation
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; HERITABILITY; VARIANTS; REVEALS;
LOCI
AB A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is uncertain. Individual risk-associated genes have been identified from rare variation, especially de novo mutations(1-8). From this evidence, one might conclude that rare variation dominates the allelic spectrum in autism, yet recent studies show that common variation, individually of small effect, has substantial impact en masse(9,10). At issue is how much of an impact relative to rare variation this common variation has. Using a unique epidemiological sample from Sweden, new methods that distinguish total narrow-sense heritability from that due to common variation and synthesis of results from other studies, we reach several conclusions about autism's genetic architecture: its narrow-sense heritability is similar to 52.4%, with most due to common variation, and rare de novo mutations contribute substantially to individual liability, yet their contribution to variance in liability, 2.6%, is modest compared to that for heritable variation.
C1 [Gauglerl, Trent; Bodea, Corneliu A.; Lee, Ann B.; Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Klei, Lambertus; Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Sanders, Stephan J.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT USA.
[Goldberg, Arthur P.; Reichert, Jennifer; Reichenberg, Abraham; Buxbaum, Joseph D.] Seaver Autism Ctr Res & Treatment, Icahn Sch Med Mt Sinai, New York, NY USA.
[Goldberg, Arthur P.; Reichert, Jennifer; Sklar, Pamela; Reichenberg, Abraham; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Goldberg, Arthur P.; Sklar, Pamela] Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY USA.
[Mahajan, Milind; Manaa, Dina; Sklar, Pamela; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA.
[Pawitan, Yudi; Sandin, Sven; Svantesson, Oscar; Hultman, Christina M.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Ripke, Stephan] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA USA.
[Sklar, Pamela; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY USA.
[Sklar, Pamela] Icahn Sch Med Mt Sinai, Div Psychiat Gen, New York, NY USA.
[Reichenberg, Abraham] Icahn Sch Med Mt Sinai, Dept Prevent Med, New York, NY USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA.
RP Roeder, K (reprint author), Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
EM roeder@stat.cmu.edu; joseph.buxbaum@mssm.edu
FU National Institute of Mental Health (NIMH) [MH057881, MH097849]; NIMH
[MH095034, MH077139]; US NIH [HD055751, HD055782, HD055784, HD35465,
MH52708, MH55284, MH57881, MH061009, MH06359, MH066673, MH080647,
MH081754, MH66766, NS026630, NSO42165, NSO49261]; Canadian Institutes
for Health Research (CIHR); Assistance Publique-Hopitaux de Paris,
France; Autism Speaks, UK; Canada Foundation for Innovation/Ontario
Innovation Trust; Deutsche Forschungsgemeinschaft, Germany [Po
255/17-4]; European Community's Sixth Framework Programme AUTISM MOLGEN;
Fundacao Calouste Gulbenkian, Portugal; Fondation de France; Fondation
FondaMental, France; Fondation Orange, France; Fondation pour la
Recherche Medicale, France; Fundacao pars a Ciencia e Tecnologia,
Portugal; Hospital for Sick Children Foundation; University of Toronto,
Canada; INSERM, France; Institut Pasteur, France; Italian Ministry of
Health [181]; John P. Hussman Foundation, USA; McLaughlin Centre,
Canada; Netherlands Organization for Scientific Research [Rubicon
825.06.031]; Royal Netherlands Academy of Arts and Sciences
[TMF/DA/5801]; Ontario Ministry of Research and Innovation, Canada;
Seaver Foundation, USA; Swedish Science Council; Centre for Applied
Genomics, Canada; Utah Autism Foundation, USA; Wellcome Trust, UK
[075491/Z/04]; Division of Aging Biology and the Division of Geriatrics
and Clinical Gerontology, National Institute on Aging
FX This study was supported by National Institute of Mental Health (NIMH)
grants MH057881 and MH097849 and also in part through the computational
resources and staff expertise provided by the Scientific Computing
Facility at the Icahn School of Medicine at Mount Sinai. We thank the
Mount Sinai Genomics Core Facility for carrying out Illumina bead array
genotyping. We thank D. Cutler, M. Daly and S. Purcell for comments on
the manuscript and M. Daly and P. Sullivan for facilitating access to
control samples, collected and genotyped by M. Daly, C.M.H., P.S. and P.
Sullivan with support from NIMH grants MH095034 and MH077139. We also
thank the nurses, A.-K. Sundberg and A.-B. Holmgren, for their hard work
in collecting the samples. AGP: We used data from the Autism Genome
Project (AGP) Consortium Whole-Genome Association and Copy Number
Variation Study of over 2,600 parent-offspring trios (database of
Genotypes and Phenotypes (dbGaP) study phs000267.v4.p2). Funding for AGP
was provided from the US NIH (HD055751, HD055782, HD055784, HD35465,
MH52708, MH55284, MH57881, MH061009, MH06359, MH066673, MH080647,
MH081754, MH66766, NS026630, NSO42165 and NSO49261); the Canadian
Institutes for Health Research (CIHR); Assistance Publique-Hopitaux de
Paris, France; Autism Speaks, UK; the Canada Foundation for
Innovation/Ontario Innovation Trust; grant Po 255/17-4 from Deutsche
Forschungsgemeinschaft, Germany; the European Community's Sixth
Framework Programme AUTISM MOLGEN; Fundacao Calouste Gulbenkian,
Portugal; Fondation de France; Fondation FondaMental, France; Fondation
Orange, France; Fondation pour la Recherche Medicale, France; Fundacao
pars a Ciencia e Tecnologia, Portugal; The Hospital for Sick Children
Foundation and the University of Toronto, Canada; INSERM, France;
Institut Pasteur, France; Convention 181 of 19.10.2001 from the Italian
Ministry of Health; the John P. Hussman Foundation, USA; the McLaughlin
Centre, Canada; Rubicon 825.06.031 from the Netherlands Organization for
Scientific Research; TMF/DA/5801 from the Royal Netherlands Academy of
Arts and Sciences; the Ontario Ministry of Research and Innovation,
Canada; the Seaver Foundation, USA; the Swedish Science Council; the
Centre for Applied Genomics, Canada; the Utah Autism Foundation, USA;
and Core award 075491/Z/04 from the Wellcome Trust, UK. Genotype and
phenotype data were obtained from dbGaP, as provided by AGP study
investigators. HealthABC: These controls were obtained from dbGaP.
Funding support for the CIDR Visceral Adiposity Study (dbGaP study
phs000169.v1.p1) was provided through the Division of Aging Biology and
the Division of Geriatrics and Clinical Gerontology, National Institute
on Aging. The CIDR Visceral Adiposity Study includes a GWAS funded as
part of the Division of Aging Biology and the Division of Geriatrics and
Clinical Gerontology, National Institute on Aging. Assistance with
phenotype harmonization and genotype cleaning, as well as with general
study coordination, was provided by Health ABC study investigators. This
manuscript reflects the views of the authors and does not necessarily
reflect the opinions or views of the US NIH.
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NR 33
TC 29
Z9 30
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD AUG
PY 2014
VL 46
IS 8
BP 881
EP 885
DI 10.1038/ng.3039
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA AM2TT
UT WOS:000339704400018
PM 25038753
ER
PT J
AU Rimmer, A
Phan, H
Mathieson, I
Iqbal, Z
Twigg, SRF
Wilkie, AOM
McVean, G
Lunter, G
AF Rimmer, Andy
Phan, Hang
Mathieson, Iain
Iqbal, Zamin
Twigg, Stephen R. F.
Wilkie, Andrew O. M.
McVean, Gil
Lunter, Gerton
CA WGS500 Consortium
TI Integrating mapping-, assembly- and haplotype-based approaches for
calling variants in clinical sequencing applications
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; HIGH-RESOLUTION HLA; POLYMORPHIC GENOMES;
CIONA-SAVIGNYI; GENERATION; EXOME; FRAMEWORK; ALIGNMENT; DISEASE; AUTISM
AB High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a new approach to this problem, implemented in a software package called Platypus. Platypus achieves high sensitivity and specificity for SNPs, indels and complex polymorphisms by using local de novo assembly to generate candidate variants, followed by local realignment and probabilistic haplotype estimation. It is an order of magnitude faster than existing tools and generates calls from raw aligned read data without preprocessing. We demonstrate the performance of Platypus in clinically relevant experimental designs by comparing with SAMtools and GATK on whole-genome and exome-capture data, by identifying de novo variation in 15 parent-offspring trios with high sensitivity and specificity, and by estimating human leukocyte antigen genotypes directly from variant calls.
C1 [Rimmer, Andy; Phan, Hang; Mathieson, Iain; Iqbal, Zamin; McVean, Gil; Lunter, Gerton] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Twigg, Stephen R. F.; Wilkie, Andrew O. M.] Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DU, England.
[McVean, Gil] Univ Oxford, Dept Stat, Oxford OX1 3TG, England.
RP Lunter, G (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, S Parks Rd, Oxford, England.
EM gerton.lunter@well.ox.ac.uk
FU Biotechnology and Biological Sciences Research Council (BBSRC)
[BB/I02593X/1]; Wellcome Trust [102731/Z/13/Z, 089250/Z/09/Z,
090532/Z/09/Z]; National Institute for Health Research (NIHR) Oxford
Biomedical Research Centre Programme
FX This study was funded by Biotechnology and Biological Sciences Research
Council (BBSRC) grant BB/I02593X/1 (G.L., G.M., A.R. and H.P.), by
Wellcome Trust grants 102731/Z/13/Z (A.O.M.W. and S.R.F.T.),
089250/Z/09/Z (I.M.) and 090532/Z/09/Z (G.M., G.L. and A.R.), and by the
National Institute for Health Research (NIHR) Oxford Biomedical Research
Centre Programme. The views expressed are those of the authors and not
necessarily those of the National Health Service (NHS), NIHR or the UK
Department of Health.
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NR 41
TC 7
Z9 7
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD AUG
PY 2014
VL 46
IS 8
BP 912
EP 918
DI 10.1038/ng.3036
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AM2TT
UT WOS:000339704400024
PM 25017105
ER
PT J
AU Escobedo, L
Ibarra, C
Hernandez, J
Alvelais, M
Tentori, M
AF Escobedo, Lizbeth
Ibarra, Catalina
Hernandez, Jehu
Alvelais, Mariana
Tentori, Monica
TI Smart objects to support the discrimination training of children with
autism
SO PERSONAL AND UBIQUITOUS COMPUTING
LA English
DT Article
DE Tangible computing; Smart objects; Assistive technology; Autism;
Child-computer interaction; Discrimination training
ID INTERVENTIONS
AB Teachers spend considerable amount of time keeping students with autism "on task" giving away prompts and rewards and maintaining a detailed record of students' progress during the object discrimination training. We hypothesize that tangible computing, in particular smart objects, could help teachers cope with the problems faced during the object discrimination training of students with autism. In this paper, we describe design principles for smart objects to support the object discrimination training and present several example prototypes. First, we present the design and implementation of "Things that think" (T3), a smart device that converts traditional objects into smart objects that promote interactivity with a playful and engaging interaction, and are capable of the automatic recording of students' progress. Then, we present four T3 smart objects assembled in a board. The results of a 7-week deployment study of the use of such smart objects in three classrooms of students with autism (n = 25, 7 teachers and 18 students with autism) demonstrate T3 smart objects reduce the workload of teachers, ease the record-keeping and increase its reliability, and reduce students' behavioral problems while improving their cognitive efficacy. We close discussing directions for future work.
C1 [Escobedo, Lizbeth; Ibarra, Catalina] Univ Autonoma Baja California, Ensenada, Baja California, Mexico.
[Hernandez, Jehu] Softek, Ensenada, Baja California, Mexico.
[Alvelais, Mariana] Cetys Univ, Mexicali, Baja California, Mexico.
[Tentori, Monica] Ctr Sci Res & Higher Educ CICESE, Ensenada, Baja California, Mexico.
RP Escobedo, L (reprint author), Univ Autonoma Baja California, Ensenada, Baja California, Mexico.
EM lescobedo@uabc.edu.mx; catalina.ibarra@uabc.edu.mx; jehu.hdez@gmail.com;
marina.alvelais@cetys.mx; mtentori@cicese.mx
FU Lizbeth Escobedo's CONACYT fellowship; Catalina Ibarra's CONACYT
fellowships; UCMexus Grant [634-237]; CONACYT Grant [10256]
FX We thank to Pasitos A. C. for their support. This work was funded
through Lizbeth Escobedo's and Catalina Ibarra's CONACYT fellowships and
through the UCMexus Grant #634-237 and CONACYT Grant #10256.
CR Antle AN, 2007, P 1 INT C TANG EMB I, P195, DOI 10.1145/1226969.1227010
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NR 28
TC 0
Z9 0
PU SPRINGER LONDON LTD
PI LONDON
PA 236 GRAYS INN RD, 6TH FLOOR, LONDON WC1X 8HL, ENGLAND
SN 1617-4909
EI 1617-4917
J9 PERS UBIQUIT COMPUT
JI Pers. Ubiquitous Comput.
PD AUG
PY 2014
VL 18
IS 6
SI SI
BP 1485
EP 1497
DI 10.1007/s00779-013-0750-3
PG 13
WC Computer Science, Information Systems; Telecommunications
SC Computer Science; Telecommunications
GA AM5IW
UT WOS:000339891900018
ER
PT J
AU Halldner, L
Tillander, A
Lundholm, C
Boman, M
Langstrom, N
Larsson, H
Lichtenstein, P
AF Halldner, Linda
Tillander, Annika
Lundholm, Cecilia
Boman, Marcus
Langstrom, Niklas
Larsson, Henrik
Lichtenstein, Paul
TI Relative immaturity and ADHD: findings from nationwide registers,
parent- and self-reports
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE ADHD; child development; pharmacotherapy; epidemiological studies
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; TELEPHONE INTERVIEW; AUTISM-TICS; A-TAC; AGE; BIRTH;
CHILDHOOD; DIAGNOSIS; CHILDREN
AB Background: We addressed if immaturity relative to peers reflected in birth month increases the likelihood of ADHD diagnosis and treatment. Methods: We linked nationwide Patient and Prescribed Drug Registers and used prospective cohort and nested case-control designs to study 6-69 year-old individuals in Sweden from July 2005 to December 2009 (Cohort 1). Cohort 1 included 56,263 individuals diagnosed with ADHD or ever used prescribed ADHD-specific medication. Complementary population-representative cohorts provided DSM-IV ADHD symptom ratings; parent-reported for 10,760 9-year-old twins born 1995-2000 from the CATSS study (Cohort 2) and self-reported for 6,970 adult twins age 20-47 years born 1959-1970 from the STAGE study (Cohort 3). We calculated odds ratios (OR:s) for ADHD across age for individuals born in November/December compared to January/February (Cohort 1). ADHD symptoms in Cohorts 2 and 3 were studied as a function of calendar birth month. Results: ADHD diagnoses and medication treatment were both significantly more common in individuals born in November/December versus January/February; peaking at ages 6 (OR: 1.8; 95% CI: 1.5-2.2) and 7 years (OR: 1.6; 95% CI: 1.3-1.8) in the Patient and Prescribed Drug Registers, respectively. We found no corresponding differences in parent-or self-reported ADHD symptoms by calendar birth month. Conclusion: Relative immaturity compared to class mates might contribute to ADHD diagnosis and pharmacotherapy despite absence of parallel findings in reported ADHD symptom loads by relative immaturity. Increased clinical awareness of this phenomenon may be warranted to decrease risk for imprecise diagnostics and treatment. We speculate that flexibility regarding age at school start according to individual maturity could reduce developmentally inappropriate demands on children and improve the precision of ADHD diagnostic practice and pharmacological treatment.
C1 [Halldner, Linda; Tillander, Annika; Lundholm, Cecilia; Boman, Marcus; Langstrom, Niklas; Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-11330 Stockholm, Sweden.
[Halldner, Linda] Karolinska Inst, Karolinska Inst Ctr Neurodev Disorders KIND, SE-11330 Stockholm, Sweden.
RP Halldner, L (reprint author), Karolinska Inst, CAP, Barn & Ungdomspsykiatriskt Forskningsctr, Gavlegatan 22B,Plan 8, SE-11330 Stockholm, Sweden.
EM linda.halldner@ki.se
FU Swedish Research Council [2010-3184]; Karolinska Institutet Center of
Neurodevelopmental Disorders (KIND)
FX This study was supported in part from Swedish Research Council
(2010-3184) and Karolinska Institutet Center of Neurodevelopmental
Disorders (KIND). The authors declare that they have no potential or
competing conflicts of interest.
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Wettermark B, 2007, PHARMACOEPIDEM DR S, V16, P726, DOI 10.1002/pds.1294
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NR 36
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD AUG
PY 2014
VL 55
IS 8
BP 897
EP 904
DI 10.1111/jcpp.12229
PG 8
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700007
PM 24673585
ER
PT J
AU Corbett, BA
Swain, DM
Newsom, C
Wang, L
Song, Y
Edgerton, D
AF Corbett, Blythe A.
Swain, Deanna M.
Newsom, Cassandra
Wang, Lily
Song, Yanna
Edgerton, Dale
TI Biobehavioral profiles of arousal and social motivation in autism
spectrum disorders
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; cortisol; play; stress; social; interaction; behavior
ID SALIVARY CORTISOL; SQUIRREL-MONKEYS; PUBERTAL STATUS; CHILDREN; STRESS;
PLAY; SKILLS; COMMUNICATION; VALIDITY; INTERVENTIONS
AB Background: Children with autism spectrum disorder (ASD) are impaired in social communication and interaction with peers, which may reflect diminished social motivation. Many children with ASD show enhanced stress when playing with other children. This study investigated social and stress profiles of children with ASD during play. Methods: We utilized a peer interaction paradigm in a natural playground setting with 66 unmedicated, prepubertal, children aged 8-12 years [38 with ASD, 28 with typical development (TD)]. Salivary cortisol was collected before and after a 20-min playground interaction that was divided into periods of free and solicited play facilitated by a confederate child. Statistical analyses included Wilcoxon rank-sum tests, mixed effects models, and Spearman correlations to assess the between-group differences in social and stress functioning, identify stress responders, and explore associations between variables, respectively. Results: There were no differences between the groups during unsolicited free play; however, during solicited play by the confederate, significant differences emerged such that children with ASD engaged in fewer verbal interactions and more self-play than the TD group. Regarding physiological arousal, children with ASD as a group showed relatively higher cortisol in response to social play; however, there was a broad range of responses. Moreover, those with the highest cortisol levels engaged in less social communication. Conclusions: The social interaction of children with ASD can be facilitated by peer solicitation; however, it may be accompanied by increased stress. The children with ASD that have the highest level of cortisol show less social motivation; yet, it is unclear if it reflects an underlying state of heightened arousal or enhanced reactivity to social engagement, or both.
C1 [Corbett, Blythe A.; Newsom, Cassandra] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37203 USA.
[Corbett, Blythe A.; Swain, Deanna M.; Newsom, Cassandra; Wang, Lily] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Wang, Lily; Song, Yanna] Vanderbilt Univ, Dept Biostat, Nashville, TN 37203 USA.
[Edgerton, Dale] Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN 37203 USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU National Institute of Mental Health [R01 MH085717]; National Institute
of Child Development Grant [P30 HD15052]; NIH [DK059637, DK020593]
FX The study was funded by the National Institute of Mental Health R01
MH085717 awarded to Blythe Corbett and a National Institute of Child
Development Grant P30 HD15052 to Vanderbilt Kennedy Center (VKC). The
authors thank Eric Allen (VUMC Hormone Assay and Analytical Services
Core, supported by NIH grants DK059637 and DK020593) for validation and
completion of the cortisol assays. The authors have declared that they
have no potential or competing conflicts of interest.
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NR 58
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD AUG
PY 2014
VL 55
IS 8
BP 924
EP 934
DI 10.1111/jcpp.12184
PG 11
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700010
PM 24329926
ER
PT J
AU Ausderau, KK
Furlong, M
Sideris, J
Bulluck, J
Little, LM
Watson, LR
Boyd, BA
Belger, A
Dickie, VA
Baranek, GT
AF Ausderau, Karla K.
Furlong, Melissa
Sideris, John
Bulluck, John
Little, Lauren M.
Watson, Linda R.
Boyd, Brian A.
Belger, Aysenil
Dickie, Virginia A.
Baranek, Grace T.
TI Sensory subtypes in children with autism spectrum disorder: latent
profile transition analysis using a national survey of sensory features
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Children; autism; sensory; latent profile transition analysis; subtypes
ID DEVELOPMENTAL DELAYS; EXPERIENCES QUESTIONNAIRE; TYPICAL DEVELOPMENT;
ADAPTIVE-BEHAVIOR; OVER-RESPONSIVITY; YOUNG-CHILDREN; PATTERNS;
INTERVENTIONS; POTENTIALS; PERCEPTION
AB Background: Sensory features are highly prevalent and heterogeneous among children with ASD. There is a need to identify homogenous groups of children with ASD based on sensory features (i.e. sensory subtypes) to inform research and treatment. Methods: Sensory subtypes and their stability over 1 year were identified through latent profile transition analysis (LPTA) among a national sample of children with ASD. Data were collected from caregivers of children with ASD ages 2-12 years at two time points (Time 1 N = 1294; Time 2 N = 884). Results: Four sensory subtypes (Mild; Sensitive-Distressed; Attenuated-Preoccupied; Extreme-Mixed) were identified, which were supported by fit indices from the LPTA as well as current theoretical models that inform clinical practice. The Mild and Extreme-Mixed subtypes reflected quantitatively different sensory profiles, while the Sensitive-Distressed and Attenuated-Preoccupied subtypes reflected qualitatively different profiles. Further, subtypes reflected differential child (i.e. gender, developmental age, chronological age, autism severity) and family (i.e. income, mother's education) characteristics. Ninety-one percent of participants remained stable in their subtypes over 1 year. Conclusions: Characterizing the nature of homogenous sensory subtypes may facilitate assessment and intervention, as well as potentially inform biological mechanisms.
C1 [Ausderau, Karla K.; Furlong, Melissa; Bulluck, John; Little, Lauren M.; Watson, Linda R.; Boyd, Brian A.; Dickie, Virginia A.; Baranek, Grace T.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC USA.
[Ausderau, Karla K.] Univ Wisconsin, Occupat Therapy Program, Dept Kinesiol, Madison, WI 53706 USA.
[Sideris, John] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Belger, Aysenil] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Ausderau, KK (reprint author), Univ Wisconsin, Med Sci Ctr 3195, Dept Kinesiol, Occupat Therapy Program, 1300 Univ Ave, Madison, WI 53706 USA.
EM kausderau@wisc.edu
FU National Institute for Child Health and Human Development (ARRA
Supplement) [A10-0589, R01-HD42168]; Neurodevelopmental Disorders
Research Center Autism Subject Registry at The University of North
Carolina at Chapel Hill [P30-HD03110]
FX This research was supported by grants from the National Institute for
Child Health and Human Development (ARRA Supplement A10-0589;
R01-HD42168) and The Neurodevelopmental Disorders Research Center Autism
Subject Registry at The University of North Carolina at Chapel Hill
(P30-HD03110). The authors thank the families that participated in the
study as well as the research team at the Sensory Experiences Project.
They also thank Aaron Thompson at University of Missouri for sharing his
expertise regarding latent profile transition analysis. They thank the
Interactive Autism Network (IAN) Project at the Kennedy Krieger
Institute, Baltimore, Maryland, the University of North Carolina at
Chapel Hill Research Registry, and the multiple other autism
organizations who assisted in recruitment. All authors have declared
that they have no potential or competing conflicts of interest.
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NR 47
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD AUG
PY 2014
VL 55
IS 8
BP 935
EP 944
DI 10.1111/jcpp.12219
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700011
PM 25039572
ER
PT J
AU Wolff, JJ
Botteron, KN
Dager, SR
Elison, JT
Estes, AM
Gu, HB
Hazlett, HC
Pandey, J
Paterson, SJ
Schultz, RT
Zwaigenbaum, L
Piven, J
AF Wolff, Jason J.
Botteron, Kelly N.
Dager, Stephen R.
Elison, Jed T.
Estes, Annette M.
Gu, Hongbin
Hazlett, Heather C.
Pandey, Juhi
Paterson, Sarah J.
Schultz, Robert T.
Zwaigenbaum, Lonnie
Piven, Joseph
CA IBIS Network
TI Longitudinal patterns of repetitive behavior in toddlers with autism
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; repetitive behavior; high-risk siblings
ID SPECTRUM DISORDERS; STEREOTYPED MOVEMENTS; YOUNG-CHILDREN; SIBLINGS;
INFANTS; AGE; INDIVIDUALS; ASSOCIATION; ATTENTION; SAMPLE
AB Background: Recent evidence suggests that restricted and repetitive behaviors may differentiate children who develop autism spectrum disorder (ASD) by late infancy. How these core symptoms manifest early in life, particularly among infants at high risk for the disorder, is not well characterized. Methods: Prospective, longitudinal parent-report data (Repetitive Behavior Scales-Revised) were collected for 190 high-risk toddlers and 60 low-risk controls from 12 to 24 months of age. Forty-one high-risk children were classified with ASD at age 2. Profiles of repetitive behavior were compared between groups using generalized estimating equations. Results: Longitudinal profiles for children diagnosed with ASD differed significantly from high-and low-risk children without the disorder on all measures of repetitive behavior. High-risk toddlers without ASD were intermediate to low risk and ASD positive counterparts. Toddlers with ASD showed significantly higher rates of repetitive behavior across subtypes at the 12-month time point. Repetitive behaviors were significantly correlated with adaptive behavior and socialization scores among children with ASD at 24 months of age, but were largely unrelated to measures of general cognitive ability. Conclusions: These findings suggest that as early as 12 months of age, a broad range of repetitive behaviors are highly elevated in children who go on to develop ASD. While some degree of repetitive behavior is elemental to typical early development, the extent of these behaviors among children who develop ASD appears highly atypical.
C1 [Wolff, Jason J.; Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Gu, Hongbin; Hazlett, Heather C.; Piven, Joseph] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Botteron, Kelly N.] Washington Univ, Dept Psychiat, St Louis, MO USA.
[Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA.
[Elison, Jed T.] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Estes, Annette M.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA.
[Pandey, Juhi; Paterson, Sarah J.; Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada.
RP Wolff, JJ (reprint author), Univ N Carolina, Carolina Inst Dev Disabil, CB 3367, Chapel Hill, NC 27599 USA.
EM jason.wolff@cidd.unc.edu
RI Pike, Bruce/K-5562-2014
OI Pike, Bruce/0000-0001-8924-683X
FU NIH [R01-HD055741, HD055741-S1, K01-MN101653, P30-HD03110]; Autism
Speaks; Simons Foundation; IBIS Network is an NIH
FX This study was supported by grants from NIH (R01-HD055741, HD055741-S1,
K01-MN101653, & P30-HD03110), Autism Speaks, and the Simons Foundation.
The authors thank 'The Infant Brain Imaging Study (IBIS) Network'
families for participating in this research. IBIS Network is an NIH
funded Autism Center of Excellence project and consists of a consortium
of seven universities in the United States and Canada. Clinical Sites:
University of North Carolina: J. Piven (IBIS Network PI), H. C. Hazlett,
J. C. Chappell; University of Washington: S. Dager, A. Estes, D. Shaw;
Washington University: K. Botteron, R. McKinstry, J. Constantino, J.
Pruett; Children's Hospital of Philadelphia: R. Schultz, S. Paterson;
University of Alberta: L. Zwaigenbaum; Data Coordinating Center:
Montreal Neurological Institute: A. C. Evans, D. L. Collins, G. B. Pike,
P. Kostopolous, S. Das; Image Processing Core: University of Utah: G.
Gerig; University of North Carolina: M. Styner; Statistical Analysis
Core: University of North Carolina: H. Gu; Genetics Analysis Core:
University of North Carolina: P. Sullivan, F. Wright. All authors have
declared that they have no potential or competing conflicts of interest.
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NR 44
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD AUG
PY 2014
VL 55
IS 8
BP 945
EP 953
DI 10.1111/jcpp.12207
PG 9
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AL8JO
UT WOS:000339384700012
PM 24552513
ER
PT J
AU Godavarthi, SK
Sharma, A
Jana, NR
AF Godavarthi, Swetha K.
Sharma, Ankit
Jana, Nihar Ranjan
TI Reversal of reduced parvalbumin neurons in hippocampus and amygdala of
Angelman syndrome model mice by chronic treatment of fluoxetine
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE angelman syndrome; anxiety; chronic stress; fluoxetine; parvalbumin
ID LONG-TERM POTENTIATION; RAT HIPPOCAMPUS; ANTIDEPRESSANT FLUOXETINE;
POSTNATAL-DEVELOPMENT; MOUSE MODEL; INTERNEURONS; EXPRESSION; ANXIETY;
DEFICITS; PROTEIN
AB Angelman syndrome (AS) is a neuropsychiatric disorder characterized by autism, intellectual disability and motor disturbances. The disease is primarily caused by the loss of function of maternally inherited UBE3A. Ube3a maternal-deficient mice recapitulates many essential feature of AS. These AS mice have been shown to be under chronic stress and exhibits anxiety-like behaviour because of defective glucocorticoid receptor signalling. Here, we demonstrate that chronic stress in these mice could lead to down-regulation of parvalbumin-positive interneurons in the hippocampus and basolateral amygdala from early post-natal days. Down-regulation of parvalbumin-positive interneurons number could be because of decrease in the expression of parvalbumin in these neurons. We also find that treatment with fluoxetine, a selective serotonin reuptake inhibitor, results in restoration of impaired glucocorticoid signalling, elevated serum corticosterone level, parvalbumin-positive interneurons and anxiety-like behaviours. Our findings suggest that impaired glucocorticod signalling in hippocampus and amygdala of AS mice is critical for the decrease in parvalbumin interneurons number, emergence of anxiety and other behavioural deficits and highlights the importance of fluoxetine in the recovery of these abnormalities.
C1 [Godavarthi, Swetha K.; Sharma, Ankit; Jana, Nihar Ranjan] Natl Brain Res Ctr, Cellular & Mol Neurosci Lab, Manesar, Gurgaon, India.
RP Jana, NR (reprint author), Natl Brain Res Ctr, Cellular & Mol Neurosci Lab, Manesar, Gurgaon, India.
EM nihar@nbrc.ac.in
FU Department of Biotechnology [BT/HRD/34/18/2008]
FX This work was supported by the core grant from the Department of
Biotechnology to the National Brain Research Centre, Government of
India. NRJ is a recipient of National Bioscience Award for Career
Development from Department of Biotechnology (BT/HRD/34/18/2008).
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NR 44
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-3042
EI 1471-4159
J9 J NEUROCHEM
JI J. Neurochem.
PD AUG
PY 2014
VL 130
IS 3
BP 444
EP 454
DI 10.1111/jnc.12726
PG 11
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL9RU
UT WOS:000339479200011
PM 24678582
ER
PT J
AU Doers, ME
Musser, MT
Nichol, R
Berndt, ER
Baker, M
Gomez, TM
Zhang, SC
Abbeduto, L
Bhattacharyya, A
AF Doers, Matthew E.
Musser, Michael T.
Nichol, Robert
Berndt, Erich R.
Baker, Mei
Gomez, Timothy M.
Zhang, Su-Chun
Abbeduto, Leonard
Bhattacharyya, Anita
TI iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in
Initial Neurite Outgrowth
SO STEM CELLS AND DEVELOPMENT
LA English
DT Article
ID FRAGILE-X-SYNDROME; PLURIPOTENT STEM-CELLS; MENTAL-RETARDATION PROTEIN;
FMR1 MESSENGER-RNA; DIRECTED DIFFERENTIATION; NEURAL DIFFERENTIATION;
CGG EXPANSIONS; FULL MUTATION; GENE; EXPRESSION
AB Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is closely linked with autism. The genetic basis of FXS is an expansion of CGG repeats in the 5 -untranslated region of the FMR1 gene on the X chromosome leading to the loss of expression of the fragile X mental retardation protein (FMRP). The cause of FXS has been known for over 20 years, yet the full molecular and cellular consequences of this mutation remain unclear. Although mouse and fly models have provided significant understanding of this disorder and its effects on the central nervous system, insight from human studies is limited. We have created human induced pluripotent stem cell (iPSC) lines from fibroblasts obtained from individuals with FXS to enable in vitro modeling of the human disease. Three young boys with FXS who came from a well-characterized cohort representative of the range of affectedness typical for the syndrome were recruited to aid in linking cellular and behavioral phenotypes. The FMR1 mutation is preserved during the reprogramming of patient fibroblasts to iPSCs. Mosaicism of the CGG repeat length in one of the patient's fibroblasts allowed for the generation of isogenic lines with differing CGG repeat lengths from the same patient. FXS forebrain neurons were differentiated from these iPSCs and display defective neurite initiation and extension. These cells provide a well-characterized resource to examine potential neuronal deficits caused by FXS as well as the function of FMRP in human neurons.
C1 [Doers, Matthew E.; Musser, Michael T.; Berndt, Erich R.; Zhang, Su-Chun; Abbeduto, Leonard; Bhattacharyya, Anita] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Nichol, Robert; Gomez, Timothy M.; Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Neurosci Training Program, Madison, WI 53705 USA.
[Nichol, Robert; Gomez, Timothy M.; Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Dept Neurosci, Madison, WI 53705 USA.
[Baker, Mei] Univ Wisconsin, Sch Med & Publ Hlth, Dept Pediat, Madison, WI 53705 USA.
[Baker, Mei] Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI 53706 USA.
[Baker, Mei] Newborn Screening Lab, Madison, WI USA.
[Zhang, Su-Chun] Univ Wisconsin, Sch Med & Publ Hlth, Dept Neurol, Madison, WI 53705 USA.
[Abbeduto, Leonard] Univ Calif Davis, Dept Psychiat & Behav Sci, MIND Inst, Sacramento, CA 95817 USA.
RP Bhattacharyya, A (reprint author), Univ Wisconsin, Waisman Ctr 623, 1500 Highland Ave, Madison, WI 53705 USA.
EM bhattacharyy@waisman.wisc.edu
FU National Institutes of Health National Center for Advancing
Translational Sciences (NCATS) [UL1TR000427]; FRAXA Research Foundation
Grant; NIH [R01 HD054764, R01 NS41564]; Heckrodt Family Foundation
Grant; NIH-NICHD [P30 HD03352]
FX The authors thank Xinyu Zhao and members of the Waisman Center Fragile X
Focus Group for helpful discussions. We thank Xiaoqing Zhang, Jianfeng
Lu, and Yingnan Yin in the Waisman Center iPSC core for reprogramming
services. We also thank Jason P. Weick for assistance with neuronal
differentiation and Anne Antkins and Rebecca Reese for technical
assistance. The project was supported by grant UL1TR000427 to the
University of Wisconsin Institute for Clinical and Translational
Research by the National Institutes of Health National Center for
Advancing Translational Sciences (NCATS) (A.B.), a FRAXA Research
Foundation Grant (A.B.), NIH R01 HD054764 (L.A.) and NIH R01 NS41564
(T.M.G.). This work was also funded in part by a Heckrodt Family
Foundation Grant to the Waisman Center and a core grant from the
NIH-NICHD (P30 HD03352).
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NR 65
TC 1
Z9 1
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1547-3287
EI 1557-8534
J9 STEM CELLS DEV
JI Stem Cells Dev.
PD AUG 1
PY 2014
VL 23
IS 15
BP 1777
EP 1787
DI 10.1089/scd.2014.0030
PG 11
WC Cell & Tissue Engineering; Hematology; Medicine, Research &
Experimental; Transplantation
SC Cell Biology; Hematology; Research & Experimental Medicine;
Transplantation
GA AL7MK
UT WOS:000339317700007
PM 24654675
ER
PT J
AU Ramisch, JL
Onaga, E
Oh, SM
AF Ramisch, Julie L.
Onaga, Esther
Oh, Su Min
TI Keeping a Sound Marriage: How Couples with Children with Autism Spectrum
Disorders Maintain Their Marriages
SO JOURNAL OF CHILD AND FAMILY STUDIES
LA English
DT Article
DE Autism; Communication; Concept mapping; Couples; Marriage
ID MARITAL SATISFACTION SCALE; COPING BEHAVIORS; PARENTS; FAMILIES; STRESS;
DISABILITIES; EXPERIENCES; ADJUSTMENT; IMPACT; WELL
AB This study focused on strengths and variables that contribute to marital successes for couples with children with autism spectrum disorders (in this article, referred to as "autism"). Particularly, the purpose of this study was to examine what husbands and wives with children with autism in contrast to couples with children who are typically developing identify as helpful to maintaining their marriages. Concept mapping methodology was used for this research study. Couples with children with autism and couples with children who are typically developing participated in telephone interviews and then grouped and rated the statements generated from their interviews. Groupings were translated into pictorial maps showing relationships and patterns. Couples with children with autism shared common perceptions about factors that help to keep their marriages strong: communication and shared foundational ideas about marriage. Communication was a cluster for all groups of husbands and wives. Only mothers of children with autism identified time for self-care as a distinct cluster.
C1 [Ramisch, Julie L.] No Illinois Univ, Sch Family Consumer & Nutr Sci, De Kalb, IL 60115 USA.
[Onaga, Esther] Michigan State Univ, E Lansing, MI 48824 USA.
[Oh, Su Min] Michigan Dept Community Hlth, Lansing, MI USA.
RP Ramisch, JL (reprint author), No Illinois Univ, Sch Family Consumer & Nutr Sci, De Kalb, IL 60115 USA.
EM jramisch@niu.edu
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NR 35
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1062-1024
EI 1573-2843
J9 J CHILD FAM STUD
JI J. Child Fam. Stud.
PD AUG
PY 2014
VL 23
IS 6
BP 975
EP 988
DI 10.1007/s10826-013-9753-y
PG 14
WC Family Studies; Psychology, Developmental; Psychiatry
SC Family Studies; Psychology; Psychiatry
GA AL4PM
UT WOS:000339114900003
ER
PT J
AU O'Neill, K
LeCouteur, A
AF O'Neill, Katherine
LeCouteur, Amanda
TI Naming the problem: a membership categorization analysis study of family
therapy
SO JOURNAL OF FAMILY THERAPY
LA English
DT Article
DE membership categorization analysis; family therapy; high-functioning
autism; school exclusion
ID DISCOURSE ANALYSIS; REFLECTIONS
AB Discursive research has examined family therapy as a process of collaboratively negotiating a preferable account of the problem. The present study uses membership categorization analysis to examine how this process occurs in a sequence of family therapy sessions with the family of a 15-year-old boy diagnosed with high-functioning autism and experiencing conflict with his school. The analysis focuses on the deployment of the membership categorization device 'disability' in the construction of the problem and the use of the devices 'family' and 'stages-of-life' to construct a new, problem-dissolving account. Conclusions are drawn about the potential usefulness of recategorization via naturally occurring membership categorization devices in constructing solutions in family therapy.
C1 [O'Neill, Katherine] New England Medicare Local, Inverell, NSW 2360, Australia.
[LeCouteur, Amanda] Univ Adelaide, Fac Hlth Sci, Sch Psychol, Adelaide, SA 5005, Australia.
RP O'Neill, K (reprint author), New England Medicare Local, 20 Chester St, Inverell, NSW 2360, Australia.
EM koneill@live.com.au
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NR 23
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0163-4445
EI 1467-6427
J9 J FAM THER
JI J. Fam. Ther.
PD AUG
PY 2014
VL 36
IS 3
BP 268
EP 286
DI 10.1111/1467-6427.12008
PG 19
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AL6YI
UT WOS:000339279300005
ER
PT J
AU Williams, JL
Faucett, WA
Smith-Packard, B
Wagner, M
Williams, MS
AF Williams, Janet L.
Faucett, W. Andrew
Smith-Packard, Bethanny
Wagner, Monisa
Williams, Marc S.
TI An Assessment of Time Involved in Pre-test Case Review and Counseling
for a Whole Genome Sequencing Clinical Research Program
SO JOURNAL OF GENETIC COUNSELING
LA English
DT Article
DE Whole genome sequencing; Time study; Electronic health record; Genetic
counseling; Intellectual disability
ID EXOME
AB Whole genome sequencing (WGS) is being used for evaluation of individuals with undiagnosed disease of suspected genetic origin. Implementing WGS into clinical practice will place an increased burden upon care teams with regard to pre-test patient education and counseling about results. To quantitate the time needed for appropriate pre-test evaluation of participants in WGS testing, we documented the time spent by our clinical research group on various activities related to program preparation, participant screening, and consent prior to WGS. Participants were children or young adults with autism, intellectual or developmental disability, and/or congenital anomalies, who have remained undiagnosed despite previous evaluation, and their biologic parents. Results showed that significant time was spent in securing allocation of clinical research space to counsel participants and families, and in acquisition and review of participant's medical records. Pre-enrollment chart review identified two individuals with existing diagnoses resulting in savings of $30,000 for the genome sequencing alone, as well as saving hours of personnel time for genome interpretation and communication of WGS results. New WGS programs should plan for costs associated with additional pre-test administrative planning and patient evaluation time that will be required to provide high quality care.
C1 [Williams, Janet L.; Faucett, W. Andrew; Smith-Packard, Bethanny; Wagner, Monisa; Williams, Marc S.] Geisinger Hlth Syst, Genom Med Inst, Danville, PA 17822 USA.
RP Williams, JL (reprint author), Geisinger Hlth Syst, Genom Med Inst, 100 N Acad Ave, Danville, PA 17822 USA.
EM jlwilliams3@geisinger.edu
FU IRB approved program "Whole Genome Sequencing for Undiagnosed Children"
FX This work was funded with internal Geisinger Health System research
funding for the IRB approved program "Whole Genome Sequencing for
Undiagnosed Children." We are grateful for the vision articulated by
David Ledbetter, W. Andrew Faucett, and Judith Argon in challenging the
leadership to fund exploratory use of WGS. We would like to thank the
genome workgroup and the program oversight committee for their
invaluable contribution. We would like to thank Sandy M. Field for her
editorial assistance in the preparation of this manuscript. We are
particularly grateful to the study participants who agreed to embark on
this journey into the use of whole genome sequencing in undiagnosed
children.
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Worthey E., 2012, BMC P S6, V6, P011
NR 8
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1059-7700
EI 1573-3599
J9 J GENET COUNS
JI J. Genet. Couns.
PD AUG
PY 2014
VL 23
IS 4
BP 516
EP 521
DI 10.1007/s10897-014-9697-4
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AL8FV
UT WOS:000339374400010
PM 24573557
ER
PT J
AU Asaro-Saddler, K
Bak, N
AF Asaro-Saddler, Kristie
Bak, Nicole
TI Persuasive Writing and Self-Regulation Training for Writers With Autism
Spectrum Disorders
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism spectrum disorders; writing instruction; self-regulation
ID LEARNING-DISABLED STUDENTS; STRUGGLING YOUNG WRITERS;
STRATEGY-DEVELOPMENT; ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; PLANNING
INSTRUCTION; DISABILITIES; CHILDREN; ADOLESCENTS; PERFORMANCE
AB In this single-subject study, we examined the effects of a persuasive writing and self-regulation strategy on the writing of children with autism spectrum disorders (ASD). Six children with ASD worked in pairs to learn a mnemonic-based strategy for planning and writing a persuasive essay using the self-regulated strategy development (SRSD) approach. Postintervention analysis revealed increases for all students in number of essay elements and holistic quality. Evidence of planning and self-regulation behaviors was also noted. Results support the assertion that utilizing a peer component to teach strategy instruction coupled with self-regulation procedures can positively affect the writing of children with ASD.
C1 [Asaro-Saddler, Kristie; Bak, Nicole] SUNY Albany, Albany, NY 12222 USA.
RP Asaro-Saddler, K (reprint author), SUNY Albany, ED 228, Albany, NY 12222 USA.
EM ksaddler@albany.edu
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NR 60
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD AUG
PY 2014
VL 48
IS 2
BP 92
EP 105
DI 10.1177/0022466912474101
PG 14
WC Education, Special
SC Education & Educational Research
GA AL2AJ
UT WOS:000338927900002
ER
PT J
AU Regan, K
Berkeley, S
Hughes, M
Kirby, S
AF Regan, Kelley
Berkeley, Sheri
Hughes, Melissa
Kirby, Suzanne
TI Effects of Computer-Assisted Instruction for Struggling Elementary
Readers With Disabilities
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE computer-assisted instruction; word recognition; reading; direct
instruction
ID LEARNING-DISABILITIES; READING-ACHIEVEMENT; STUDENTS; TECHNOLOGY;
INTERVENTIONS; COMPREHENSION; FLUENCY; AUTISM; SKILLS; RISK
AB Despite a lack of conclusive evidence, many researchers in the field view computer-assisted instruction (CAI) as an opportunity for improved instruction for students with disabilities. This study examined the effects of a CAI program, Lexia Strategies for Older Students (SOS) T on the word recognition skills of four, upper elementary students with mild disabilities. This study used a multiple-probe design across three targeted reading skill conditions per student. Findings revealed that some students were able to meet mastery of basic word reading skills with Lexia SOS alone, while others needed additional direct instruction. Student perceptions of Lexia SOS were positive. Results have particular implications for instruction in classrooms beyond the primary grades (K-3) when the focus of the curriculum shifts away from basic decoding instruction. Directions for future research are discussed.
C1 [Regan, Kelley; Berkeley, Sheri; Hughes, Melissa; Kirby, Suzanne] George Mason Univ, Fairfax, VA 22030 USA.
RP Regan, K (reprint author), George Mason Univ, Finley Bldg,Room 213,4400 Univ Dr,MS 1F2, Fairfax, VA 22030 USA.
EM kregan@gmu.edu
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What Works Clearinghouse, 2009, LEX READ
NR 48
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD AUG
PY 2014
VL 48
IS 2
BP 106
EP 119
DI 10.1177/0022466913497261
PG 14
WC Education, Special
SC Education & Educational Research
GA AL2AJ
UT WOS:000338927900003
ER
PT J
AU Becker, JAJ
Clesse, D
Spiegelhalter, C
Schwab, Y
Le Merrer, J
Kieffer, BL
AF Becker, Jerome A. J.
Clesse, Daniel
Spiegelhalter, Coralie
Schwab, Yannick
Le Merrer, Julie
Kieffer, Brigitte L.
TI Autistic-Like Syndrome in Mu Opioid Receptor Null Mice is Relieved by
Facilitated mGluR4 Activity
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID MESSENGER-RNA EXPRESSION; SPECTRUM DISORDERS; SOCIAL REJECTION; BASAL
GANGLIA; GENE OPRM1; REWARD; BEHAVIOR; MOUSE; CHILDREN; OXYTOCIN
AB The etiology of Autism Spectrum Disorders (ASDs) remains largely unknown. Identifying vulnerability genes for autism represents a major challenge in the field and allows the development of animal models for translational research. Mice lacking the mu opioid receptor gene (Oprm1(-/-)) were recently proposed as a monogenic mouse model of autism, based on severe deficits in social behavior and communication skills. We confirm this hypothesis by showing that adult Oprm1(-/-) animals recapitulate core and multiple comorbid behavioral symptoms of autism and also display anatomical, neurochemical, and genetic landmarks of the disease. Chronic facilitation of mGluR4 signaling, which we identified as a novel pharmacological target in ASDs in these mice, was more efficient in alleviating behavioral deficits than the reference molecule risperidone. Altogether, our data provide first evidence that disrupted mu opioid receptor signaling is sufficient to trigger a comprehensive autistic syndrome, maybe through blunted social reward processes, and this mouse model opens promising avenues for therapeutic innovation.
C1 [Becker, Jerome A. J.; Le Merrer, Julie; Kieffer, Brigitte L.] Univ Strasbourg, CNRS, INSERM,UMR 7104,U 964, Inst Genet & Biol Mol & Cellulaire,Dept Med Trans, Illkirch Graffenstaden, France.
[Clesse, Daniel] CNRS, Inst Neurosci Cellulaires & Integrat, Dept Neurobiol Rythmes, UPR 3212, Strasbourg, France.
[Spiegelhalter, Coralie; Schwab, Yannick] Univ Strasbourg, CNRS, Imaging Ctr,U 964, INSERM,Inst Genet & Biol Mol & Cellulaire,UMR 710, Illkirch Graffenstaden, France.
RP Kieffer, BL (reprint author), Inst Biol Mol & Cellulaire, Dept Neuro Biol & Genet, F-67404 Illkirch Graffenstaden, France.
EM briki@igbmc.fr
FU Centre National de la Recherche Scientifique (CNRS); Institut National
de la Sante et de la Recherche Medicale (INSERM); Universite de
Strasbourg; Fondation Universite de Strasbourg - Pierre Fabre
Laboratories; National Institutes of Health (NIAAA) [16658]; National
Institutes of Health (NIDA) [005010]
FX This work was supported by the Centre National de la Recherche
Scientifique (CNRS), Institut National de la Sante et de la Recherche
Medicale (INSERM), and Universite de Strasbourg. JLM acknowledges
postdoctoral fellowship from the Fondation Universite de Strasbourg,
generously funded by Pierre Fabre Laboratories. We thank the National
Institutes of Health (NIAAA no. 16658 and NIDA no. 005010) for financial
support. The authors declare no conflict of interest.
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NR 69
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2049
EP 2060
DI 10.1038/npp.2014.59
PG 12
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800002
PM 24619243
ER
PT J
AU Scheele, D
Kendrick, KM
Khouri, C
Kretzer, E
Schlafer, TE
Stoffel-Wagner, B
Gunturkun, O
Maier, W
Hurlemann, R
AF Scheele, Dirk
Kendrick, Keith M.
Khouri, Christoph
Kretzer, Elisa
Schlaefer, Thomas E.
Stoffel-Wagner, Birgit
Guentuerkuen, Onur
Maier, Wolfgang
Hurlemann, Rene
TI An Oxytocin-Induced Facilitation of Neural and Emotional Responses to
Social Touch Correlates Inversely with Autism Traits
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; CINGULATE CORTEX; PLASMA OXYTOCIN; INSULAR CORTEX;
REWARD SYSTEM; HUMAN BRAIN; PLEASANT; HUMANS; EXPOSURE; MALES
AB Social communication through touch and mutual grooming can convey highly salient socio-emotional signals and has been shown to involve the neuropeptide oxytocin (OXT) in several species. Less is known about the modulatory influence of OXT on the neural and emotional responses to human interpersonal touch. The present randomized placebo (PLC)-controlled within-subject pharmaco-functional magnetic resonance imaging (fMRI) study was designed to test the hypothesis that a single intranasal dose of synthetic OXT (24 IU) would facilitate both neural and emotional responses to interpersonal touch in a context-(female vs male touch) and trait( autistic trait load) specific manner. Specifically, the experimental rationale was to manipulate the reward value of interpersonal touch independent of the intensity and type of actual cutaneous stimulation administered. Thus, 40 heterosexual males believed that they were touched by either a man or a woman, although in fact an identical pattern of touch was always given by the same female experimenter blind to condition type. Our results show that OXT increased the perceived pleasantness of female, but not male touch, and associated neural responses in insula, precuneus, orbitofrontal, and pregenual anterior cingulate cortex. Moreover, the behavioral and neural effects of OXT were negatively correlated with autistic-like traits. Taken together, this is the first study to show that the perceived hedonic value of human heterosexual interpersonal touch is facilitated by OXT in men, but that its behavioral and neural effects in this context are blunted in individuals with autistic traits.
C1 [Scheele, Dirk; Khouri, Christoph; Kretzer, Elisa; Schlaefer, Thomas E.; Maier, Wolfgang; Hurlemann, Rene] Univ Bonn, Dept Psychiat, D-53105 Bonn, Germany.
[Scheele, Dirk; Khouri, Christoph; Kretzer, Elisa; Hurlemann, Rene] Univ Bonn, Div Med Psychol, D-53105 Bonn, Germany.
[Kendrick, Keith M.] UESTC, Sch Life Sci & Technol, Key Lab Neuroinformat, Chengdu, Peoples R China.
[Schlaefer, Thomas E.] Johns Hopkins Univ, Dept Psychiat, Baltimore, MD USA.
[Schlaefer, Thomas E.] Johns Hopkins Univ, Dept Mental Hlth, Baltimore, MD USA.
[Stoffel-Wagner, Birgit] Univ Bonn, Dept Clin Chem & Clin Pharmacol, D-53105 Bonn, Germany.
[Guentuerkuen, Onur] Ruhr Univ Bochum, Dept Biopsychol, Bochum, Germany.
[Maier, Wolfgang] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.
RP Hurlemann, R (reprint author), Univ Bonn, Dept Psychiat, Sigmund Freud Str 25, D-53105 Bonn, Germany.
EM renehurlemann@me.com
RI Hurlemann, Rene/G-4164-2012
OI Hurlemann, Rene/0000-0003-2628-565X
FU Ministry of Innovation, Science, Research and Technology of the German
State of North Rhine-Westphalia (MIWFT); University of Bonn; National
Natural Science Foundation of China [91132720]
FX RH was supported by a Starting Independent Researcher Grant
('NEMO-Neuromodulation of Emotion') jointly provided by the Ministry of
Innovation, Science, Research and Technology of the German State of
North Rhine-Westphalia (MIWFT) and the University of Bonn. KMK was
supported by National Natural Science Foundation of China grant
(91132720).
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NR 54
TC 4
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2078
EP 2085
DI 10.1038/npp.2014.78
PG 8
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800005
PM 24694924
ER
PT J
AU Jenkins, A
Apud, JA
Zhang, FY
Decot, H
Weinberger, DR
Law, AJ
AF Jenkins, Aaron
Apud, Jose A.
Zhang, Fengyu
Decot, Heather
Weinberger, Daniel R.
Law, Amanda J.
TI Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1
Related to Antipsychotic Treatment Response in Patients with
Schizophrenia
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
ID COPY NUMBER VARIATIONS; CLOZAPINE RESPONSE; GENETIC-VARIATION; NICOTINE
DEPENDENCE; ALPHA-NEUREXINS; ASSOCIATION; DELETIONS; DISORDERS;
PHARMACOGENETICS; RECEPTORS
AB Neurexins are presynaptic neuronal adhesion molecules that interact with postsynaptic neuroligins to form an inter-synaptic complex required for synaptic specification and efficient neurotransmission. Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia. Recently, small nucleotide polymorphisms in NRXN1 have been associated with antipsychotic drug response in patients with schizophrenia. Based on previous suggestive evidence of an impact on clozapine response in patients with schizophrenia, we conducted an association study of NRXN1 polymorphisms (rs12467557 and rs10490162) with antipsychotic treatment response in 54 patients with schizophrenia in a double blind, placebo-controlled NIMH inpatient crossover trial and examined for association with risk for schizophrenia in independent case-control and family-based clinical cohorts. Pharmacogenetic analysis in the placebo controlled trial revealed significant association of rs12467557and rs10490162 with drug response, whereby individuals homozygous for the A allele, at either SNP, showed significant improvement in positive symptoms, general psychopathology, thought disturbance, and negative symptoms, whereas patients carrying the G allele showed no overall response. Although we did not find evidence of the same NRXN1 SNPs being associated with results of the NIMH sponsored CATIE trial, other SNPs showed weakly positive signals. The family and case-control analyses for schizophrenia risk were negative. Our results provide confirmatory evidence of genetically determined differences in drug response in patients with schizophrenia related to NRXN1 variation. Furthermore, these findings potentially implicate NRXN1 in the therapeutic actions of antipsychotic drugs.
C1 [Jenkins, Aaron; Apud, Jose A.; Decot, Heather] NIMH, Clin Brain Disorders Branch, Genes Cognit & Psychosis Program, NIH, Bethesda, MD 20892 USA.
[Jenkins, Aaron] Univ Kentucky, Coll Med, Lexington, KY USA.
[Zhang, Fengyu; Weinberger, Daniel R.] Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA.
[Weinberger, Daniel R.] Johns Hopkins Sch Med, Dept Psychiat, Baltimore, MD USA.
[Weinberger, Daniel R.] Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA.
[Law, Amanda J.] Univ Colorado, Dept Psychiat, Sch Med, Aurora, CO 80045 USA.
[Weinberger, Daniel R.; Law, Amanda J.] Univ Colorado, Dept Cell & Dev Biol, Sch Med, Aurora, CO 80045 USA.
RP Law, AJ (reprint author), Univ Colorado, Dept Psychiat, Sch Med, Mailstop 8344,RC1 North,RM 8101, Aurora, CO 80045 USA.
EM amanda.law@ucdenver.edu
FU Intramural Research Program of the National Institutes of Mental Health,
National Institutes of Health
FX This work was supported by funds from the Intramural Research Program of
the National Institutes of Mental Health, National Institutes of Health.
We thank Bhaskar Kolachana for genotyping of the NIMH samples.
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NR 52
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD AUG
PY 2014
VL 39
IS 9
BP 2170
EP 2178
DI 10.1038/npp.2014.65
PG 9
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AL5ML
UT WOS:000339177800014
PM 24633560
ER
PT J
AU Hervas, A
Toma, C
Romaris, P
Ribases, M
Salgado, M
Bayes, M
Balmana, N
Cormand, B
Maristany, M
Guijarro, S
Arranz, MJ
AF Hervas, Amaia
Toma, Claudio
Romaris, Patricia
Ribases, Marta
Salgado, Marta
Bayes, Monica
Balmana, Noemi
Cormand, Bru
Maristany, Marta
Guijarro, Silvina
Arranz, Maria J.
TI The involvement of serotonin polymorphisms in autistic spectrum
symptomatology
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE ASD; cognitive impairment; 5-HT2A; 5-HT2B; 5-HT4; 5-HT6; serotonin
ID 5-HT2A RECEPTOR-BINDING; EPISODIC MEMORY; DISORDERS; ASSOCIATION;
COMMUNICATION; VARIANTS; SYSTEM
AB Background Autism spectrum disorders (ASD) are highly inherited developmental syndromes, resulting from a complex interaction between environmental and genetic factors. To date, only a limited number of genetic variants have been discovered with respect to autism, and their contribution to the development of the disorder has not been clearly determined. Investigation of specific autistic symptomatology may improve the chances of identifying related genes and may help to better understand these disorders.
Materials and methods We investigated the contribution of 80 genetic variants in 15 serotonin genes to ASD phenotypes [intelligence quotation (IQ), intellectual disability (ID) and language onset delay (LD)] in a cohort of 141 children and young adults (121 male patients and 20 female patients, average age 14.5 +/- 5.1 years).
Results Two polymorphisms in the HTR2B gene, rs10194776 and rs16827801, were associated with IQ (P = 0.0004 and 0.003, respectively), ID (P = 0.02 and 0.03) and LD (P = 0.04 and 0.004). Nominal associations were also detected between the ASD phenotypes investigated and 5-HT2A, 5-HT4 and 5-HT6 genetic variants.
Conclusion Our study provides evidence of the contribution of serotonergic variants to IQ, ID and LD in ASD patients. (C) 2014 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Hervas, Amaia; Romaris, Patricia; Salgado, Marta; Balmana, Noemi; Guijarro, Silvina] Univ Barcelona, Dept Child Psychiat, Barcelona 08221, Spain.
[Cormand, Bru; Arranz, Maria J.] Univ Barcelona, Hosp Univ Mutua Terrassa, Fundacio Docencia & Recerca Mutua Terrassa, Barcelona 08221, Spain.
[Toma, Claudio] Univ Barcelona, Dept Genet, Barcelona 08221, Spain.
[Cormand, Bru] IBUB, Barcelona, Spain.
[Toma, Claudio; Cormand, Bru] Vall dHebron Res Inst VHIR, Biomed Network Res Ctr Rare Dis CIBERER, Barcelona, Spain.
[Ribases, Marta] Vall dHebron Res Inst VHIR, Psychiat Genet Unit, Barcelona, Spain.
[Bayes, Monica] Hosp St Joan de Deu, CNAG, Barcelona, Spain.
[Maristany, Marta] Hosp St Joan de Deu, Dept Psychiat, Barcelona, Spain.
[Arranz, Maria J.] Hosp Santa Creu & Sant Pau, Dept Psychiat, Barcelona, Spain.
[Arranz, Maria J.] Kings Coll London, Inst Psychiat, Dept Neurosci, London WC2R 2LS, England.
RP Arranz, MJ (reprint author), Univ Barcelona, Hosp Univ Mutua Terrassa, Fundacio Docencia & Recerca Mutua Terrassa, C St Antoni 19, Barcelona 08221, Spain.
EM maria.arranz@kcl.ac.uk
RI Toma, Claudio/L-7853-2014
OI Toma, Claudio/0000-0003-3901-7507
FU Instituto de Salud Carlos III, Spain; European Union
[PIEF-GA-2009-254930]; Fundacio La Marato de TV3 [092010]; Fundacion
Alicia Koplowitz; Minsterio de Economia y Competitividad, Spain
[SAF2012-33484]; Agencia de Gestio d'Ajuts Universitaris i de
Recerca-AGAUR [2009SGR00971]
FX M.R. is a recipient of a Miguel de Servet contract from 'Instituto de
Salud Carlos III, Spain' and C.T. was supported by the European Union
(Marie Curie, PIEF-GA-2009-254930). Financial support was received from
'Fundacio La Marato de TV3' (092010), 'Fundacion Alicia Koplowitz',
'Minsterio de Economia y Competitividad, Spain' (SAF2012-33484) and
'Agencia de Gestio d'Ajuts Universitaris i de Recerca-AGAUR'
(2009SGR00971).
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NR 26
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD AUG
PY 2014
VL 24
IS 4
BP 158
EP 163
DI 10.1097/YPG.0000000000000034
PG 6
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL2BM
UT WOS:000338930800003
PM 24887447
ER
PT J
AU Baghdadli, A
Pry, R
Michelon, C
Rattaz, C
AF Baghdadli, Amaria
Pry, Rene
Michelon, Cecile
Rattaz, Cecile
TI Impact of autism in adolescents on parental quality of life
SO QUALITY OF LIFE RESEARCH
LA English
DT Article
DE Parental quality of life; Autism spectrum disorders; Risk factors;
Adolescents; Cohort
ID INTELLECTUAL DISABILITIES; SPECTRUM DISORDERS; CHILDREN; STRESS;
INTERVENTION; CAREGIVERS; PROGRAM; DISEASE; ADULTS; AGE
AB To study the impact of autism spectrum disorders (ASDs) on parental quality of life (QoL) at adolescence using the parental-developmental disorders-quality of life scale (Par-DD-QoL).
One hundred and fifty-two mothers of adolescents with ASD completed Par-DD-QoL. This scale assesses the following dimensions: emotional, daily disturbance and global QoL. This cross-sectional study uses a subset of data collected at the final time of a follow-up study (EpiTED cohort).
A polytomic regression identified an increase in aberrant behavior scores as the major independent risk factor for parental QoL. The identified protective factors were the increase in daily living, communication and object cognition scores and a higher number of siblings.
Those results suggest that there is a negative effect of externalizing behaviors and a protective effect of adaptive skills, communication and object cognition on parental QoL. Study limitations and implications are discussed.
C1 [Baghdadli, Amaria; Pry, Rene; Michelon, Cecile; Rattaz, Cecile] CHRU Montpellier, Ctr Ressources Autisme, F-34295 Montpellier 05, France.
[Baghdadli, Amaria; Pry, Rene; Michelon, Cecile; Rattaz, Cecile] Univ Montpellier, EA 4556, Lab Epsylon, F-34000 Montpellier, France.
RP Baghdadli, A (reprint author), CHRU Montpellier, Ctr Ressources Autisme, 39 Ave Charles Flahaut, F-34295 Montpellier 05, France.
EM cent-ress-autisme@chu-montpellier.fr
FU Orange Foundation; PHRC
FX This study was supported by a grant from the Orange Foundation and the
PHRC 1997 and 2007. We are extremely grateful to all the teenagers and
their families who took part in this study, and the whole EpiTED Team.
CR Allik H, 2006, HEALTH QUAL LIFE OUT, V4, DOI 10.1186/1477-7525-4-1
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NR 47
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD AUG
PY 2014
VL 23
IS 6
BP 1859
EP 1868
DI 10.1007/s11136-014-0635-6
PG 10
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA AL6YU
UT WOS:000339280700019
PM 24504623
ER
PT J
AU Domellof, E
Hedlund, L
Odman, P
AF Domellof, Erik
Hedlund, Ludmilla
Odman, Pia
TI Health-related quality of life of children and adolescents with
functional disabilities in a northern Swedish county
SO QUALITY OF LIFE RESEARCH
LA English
DT Article
DE Children; Disability; Health-related quality of life; EQ-5D-Y
ID CEREBRAL-PALSY; EQ-5D; DETERMINANTS
AB Health-related quality of life (HRQoL) studies in children and adolescents with disabilities tend to report lower self-reported health than in the typical population. However, reports are not always consistent and HRQoL appears to vary depending on diagnosis, cultural setting and clinical context. The aim of this study was to explore HRQoL in children and adolescents with various disabilities in Vasterbotten County, Sweden.
A total of 175 children and adolescents [57 girls, 118 boys; mean age 11.7 years (range 7-17 years)] divided into four different diagnostic groups (intellectual disabilities, autism spectrum disorders, movement disorders and hearing disabilities) participated in the study. The EuroQol Five Dimensions Health Questionnaire, Youth version (EQ-5D-Y) was used as HRQoL measure.
Significant differences in various EQ-5D-Y dimensions between the different diagnostic groups were found, but no differences in overall health status. HRQoL in children and adolescents with hearing disabilities was found similar to the typical child population in Sweden whereas children and adolescents with other diagnoses reported evidently more problems.
Findings suggest that there is an increased risk for children with functional disabilities other than hearing disabilities in northern Sweden to experience difficulties in various health domains and lowered general health.
C1 [Domellof, Erik; Hedlund, Ludmilla] Umea Univ, Dept Psychol, S-90187 Umea, Sweden.
[Domellof, Erik] Kolbacken Child Rehabil Ctr, Umea, Sweden.
[Odman, Pia] Linkoping Univ, Dept Med & Hlth Sci, Linkoping, Sweden.
RP Domellof, E (reprint author), Umea Univ, Dept Psychol, S-90187 Umea, Sweden.
EM erik.domellof@psy.umu.se
FU Umea University
FX This study was supported by a young researcher award from Umea
University to the first author. We thank the children and their families
for participating.
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NR 22
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0962-9343
EI 1573-2649
J9 QUAL LIFE RES
JI Qual. Life Res.
PD AUG
PY 2014
VL 23
IS 6
BP 1877
EP 1882
DI 10.1007/s11136-013-0613-4
PG 6
WC Health Care Sciences & Services; Health Policy & Services; Public,
Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA AL6YU
UT WOS:000339280700021
PM 24379137
ER
PT J
AU Poslawsky, IE
Naber, FBA
Bakermans-Kranenburg, MJ
De Jonge, MV
Van Engeland, H
Van IJzendoorn, MH
AF Poslawsky, Irina E.
Naber, Fabienne B. A.
Bakermans-Kranenburg, Marian J.
De Jonge, Maretha V.
Van Engeland, Herman
Van IJzendoorn, Marinus H.
TI Development of a Video-feedback Intervention to promote Positive
Parenting for Children with Autism (VIPP-AUTI)
SO ATTACHMENT & HUMAN DEVELOPMENT
LA English
DT Article
DE autism; sensitive parenting; parent-child interaction; early
intervention; video-feedback
ID SPECTRUM DISORDER; JOINT ATTENTION; MENTAL-RETARDATION; YOUNG-CHILDREN;
REPETITIVE BEHAVIOR; TYPICAL DEVELOPMENT; PRESCHOOL-CHILDREN;
ATTACHMENT; PREVALENCE; COMMUNICATION
AB In this paper we describe the development and content of Video-feedback Intervention to promote Positive Parenting for Children with Autism (VIPP-AUTI). VIPP-AUTI is an adapted version of the evidence-based intervention VIPP. The lack of social responsiveness in children with autism often lowers the quality of the parent-child interaction. A wide range of early interventions exist to cope with the disorder. The majority of early interventions for children with autism focus on their deficits of (social) skills, but the number of evidence-based interventions to improve early parent-child interaction patterns is limited. The aim of VIPP-AUTI is to enhance parental sensitivity to children's autistic characteristics, in order to improve child developmental outcome by increased parental support.
C1 [Poslawsky, Irina E.; De Jonge, Maretha V.; Van Engeland, Herman] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Div Neurosci, Utrecht, Netherlands.
[Naber, Fabienne B. A.; Bakermans-Kranenburg, Marian J.; Van IJzendoorn, Marinus H.] Leiden Univ, Ctr Child & Family Studies, Leiden, Netherlands.
[Naber, Fabienne B. A.] Erasmus Univ, Sch Pedag & Educ Sci, Rotterdam, Netherlands.
RP Poslawsky, IE (reprint author), Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Div Neurosci, Utrecht, Netherlands.
EM I.E.Uitewaal@umcutrecht.nl
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NR 62
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1461-6734
EI 1469-2988
J9 ATTACH HUM DEV
JI Attach. Hum. Dev.
PD AUG
PY 2014
VL 16
IS 4
SI SI
BP 343
EP 355
DI 10.1080/14616734.2014.912487
PG 13
WC Psychology, Developmental
SC Psychology
GA AK9CS
UT WOS:000338725700004
PM 24972103
ER
PT J
AU Miyachi, T
Nakai, A
Tani, I
Ohnishi, M
Nakajima, S
Tsuchiya, KJ
Matsumoto, K
Tsujii, M
AF Miyachi, Taishi
Nakai, Akio
Tani, Iori
Ohnishi, Masafumi
Nakajima, Shunji
Tsuchiya, Kenji J.
Matsumoto, Kaori
Tsujii, Masatsugu
TI Evaluation of Motor Coordination in Boys with High-Functioning Pervasive
Developmental Disorder Using the Japanese Version of the Developmental
Coordination Disorder Questionnaire
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE High-functioning pervasive developmental disorder (HFPDD); Developmental
coordination disorder (DCD); Developmental coordination disorder
questionnaire (DCDQ); Motor coordination dysfunction; Autism diagnostic
interview-revised (ADI-R); Questionnaire
ID AUTISM SPECTRUM DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW;
CHILDREN; CLUMSINESS; METAANALYSIS; IMPAIRMENTS; ADOLESCENTS;
PERCEPTIONS; RELIABILITY
AB Children with high-functioning pervasive developmental disorder (HFPDD) often have motor coordination dysfunction. However, there is no assessment tool for screening developmental coordination disorder (DCD) in Japan, which makes it difficult to evaluate the actual motor impairments of children with HFPDD. We evaluated the motor coordination function of 54 school-age boys with HFPDD using the Japanese version of the Developmental Coordination Disorder Questionnaire (DCDQ-J). We subsequently assessed the relationship between DCDQ-J scores and the results of the Japanese version of the Autism Diagnostic Interview-Revised (ADI-R) of 48 boys. The total and subscale DCDQ-J scores of the boys with HFPDD were significantly lower than the population means in the same grade: 37.0 % were below 2 standard deviations for the total score, 38.9 % for control during movement, 26.0 % for fine motor/handwriting, and 37.0 % for general coordination. Furthermore, the scores of Qualitative Abnormalities in Communication in the ADI-R were negatively correlated with control during movement, fine motor/handwriting, and total scores in the DCDQ-J. This study is the first to show Japanese children with HFPDD frequently exhibit considerably poor motor coordination according to the DCDQ-J. The screening or assessment of motor dysfunction in HFPDD using assessment tools such as the DCDQ could aid the development of interventions for these underestimated problems in Japan.
C1 [Miyachi, Taishi] Nagoya Cent Rehabil Ctr, Dept Pediat, Nagoya, Aichi, Japan.
[Nakai, Akio] Hyogo Childrens Sleep & Dev Med Res Ctr, Nishi Ku, Kobe, Hyogo 6512181, Japan.
[Tani, Iori] Tokai Gakuen Univ, Sch Humanities, Nagoya, Aichi, Japan.
[Ohnishi, Masafumi] Univ Fukui, Fac Educ & Reg Studies, Fukui 910, Japan.
[Nakajima, Shunji; Tsuchiya, Kenji J.; Matsumoto, Kaori] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Sch Contemporary Sociol, Nagoya, Aichi, Japan.
RP Nakai, A (reprint author), Hyogo Childrens Sleep & Dev Med Res Ctr, Nishi Ku, Akebono Cho 1070, Kobe, Hyogo 6512181, Japan.
EM anakai.kodomo@gmail.com
CR Aman MG, 2009, RES DEV DISABIL, V30, P386, DOI 10.1016/j.ridd.2008.07.004
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 36
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 403
EP 413
DI 10.1007/s10882-014-9377-1
PG 11
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200003
ER
PT J
AU Meadan, H
Stoner, JB
Angell, ME
Daczewitz, ME
Cheema, J
Rugutt, JK
AF Meadan, Hedda
Stoner, Julia B.
Angell, Maureen E.
Daczewitz, Marcus E.
Cheema, Jehanzeb
Rugutt, John K.
TI Do You See a Difference? Evaluating Outcomes of a Parent-Implemented
Intervention
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Social validity; Social-communication skills; Parent-implemented
intervention
ID SOCIAL VALIDITY; BEHAVIOR; CHILDREN; VALIDATION; LANGUAGE; AUTISM
AB The Parent-Implemented Communication Strategies (PiCS) project resulted in the development of an intervention package aimed at enhancing the social communication skills of young children with disabilities and limited expressive language. While the outcomes of the PiCS project seem to be positive, a thorough and comprehensive assessment of social validity was warranted. Wolf (Journal of Applied Behavior Analysis, 11, 203-214, 1978) contended that interventions should be assessed not only for effectiveness but also for social validity. This study of social validity addressed the question, "Was the PiCS project socially valid from an expert perspective?" Our expert evaluators were recruited from three groups: (a) parents of young children with disabilities, (b) early childhood special education teachers, and (c) speech language pathologists who worked with young children with disabilities. Each evaluator viewed video clips of parent-child interactions from pre- and post-intervention sessions, in random order, and completed a questionnaire about parent and child behaviors. The overall findings provided support for the social validity of the PiCS project. Further discussion that examines differences in the ratings of the groups of evaluators and implications for research and practice is provided.
C1 [Meadan, Hedda] Univ Illinois, Dept Special Educ, Champaign, IL 61820 USA.
[Stoner, Julia B.; Angell, Maureen E.; Daczewitz, Marcus E.] Illinois State Univ, Dept Special Educ, Normal, IL 61790 USA.
[Cheema, Jehanzeb] Univ Illinois, Bur Educ Res, Champaign, IL 61820 USA.
[Rugutt, John K.] Illinois State Univ, Dept Educ Adm & Fdn, Normal, IL 61790 USA.
RP Meadan, H (reprint author), Univ Illinois, Dept Special Educ, 1310 S Sixth St, Champaign, IL 61820 USA.
EM meadan@illinois.edu; jbstone@ilstu.edu; meangel@ilstu.edu;
mdaczewitz@gmail.com; jrcheema@illinois.edu; jkrugut@ilstu.edu
CR Bruder MB, 2010, EXCEPT CHILDREN, V76, P339
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Meadan H., 2013, PARENT PERSPEC UNPUB
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NR 21
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 415
EP 430
DI 10.1007/s10882-014-9376-2
PG 16
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200004
ER
PT J
AU Berquist, KL
Charlop, MH
AF Berquist, Kari L.
Charlop, Marjorie H.
TI Teaching Parents of Children with Autism to Evaluate Interventions
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Evaluation; Autism; Parent education; Empirically validated
interventions; Complementary and alternative interventions; Evidenced
based practices
ID SPECTRUM DISORDERS; ALTERNATIVE MEDICINE; YOUNG-CHILDREN; COMPLEMENTARY;
STRESS; PERCEPTIONS; DIAGNOSIS; EDUCATION; FAMILIES; SPEECH
AB Children with autism are participating in a variety of interventions that are believed to be effective by their parents; however, a majority of these interventions are not empirically supported. In this study, we assessed the efficacy of a parent education program to teach parents of children with autism to evaluate their child's interventions. Parents' acquisition, generalization, and maintenance of evaluation behaviors were examined. Additionally, we looked at parents' understanding of information regarding evaluating interventions and decision-making patterns regarding treatments in comparison to controls. A multiple baseline design across parent participants was used to assess parents' evaluation skills. After completion of a parent education program, parents increased in their evaluative behaviors relative to individual baseline measures. In addition, parents in the experimental group increased their understanding of information regarding evaluating interventions and empirically based decisions regarding treatments in comparison to controls.
C1 [Berquist, Kari L.] Claremont Grad Univ, Div Behav & Org Sci, Claremont, CA USA.
[Charlop, Marjorie H.] Claremont Mckenna Coll, Dept Psychol, Claremont, CA 91711 USA.
[Berquist, Kari L.] Stanford Univ, Med Ctr, Lucile Packard Childrens Hosp Stanford, Stanford, CA 94305 USA.
RP Berquist, KL (reprint author), Stanford Univ, Med Ctr, Lucile Packard Childrens Hosp Stanford, 401 Quarry Rd, Stanford, CA 94305 USA.
EM kbe@stanford.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 63
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD AUG
PY 2014
VL 26
IS 4
BP 451
EP 472
DI 10.1007/s10882-014-9374-4
PG 22
WC Rehabilitation
SC Rehabilitation
GA AK9XZ
UT WOS:000338783200006
ER
PT J
AU Cevikaslan, A
Evans, DW
Dedeoglu, C
Kalaca, S
Yazgan, Y
AF Cevikaslan, Ahmet
Evans, David W.
Dedeoglu, Ceyda
Kalaca, Sibel
Yazgan, Yanki
TI A Cross-Sectional Survey of Repetitive Behaviors and Restricted
Interests in A Typically Developing Turkish Child Population
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Compulsive-like behavior; Ritualistic behavior; Repetitive behavior;
Restricted interest; Childhood Routines Inventory
ID OBSESSIVE-COMPULSIVE DISORDER; AUTISM SPECTRUM DISORDERS;
YOUNG-CHILDREN; RITUALS; SYMPTOMS; INFANTS; ASSOCIATION; INSIGHTS;
PHOBIAS; NUMBER
AB This study examined compulsive-like behaviors (CLBs) which are higher-order types of Repetitive Behaviors And Restricted Interests (RBRIs) in typically developing children in Turkey. Caregivers of 1,204 children between 8 and 72 months were interviewed with Childhood Routines Inventory (CRI) by trained interviewers in a cross-sectional survey. Factor analysis of the CRI revealed two factor structures comprising "just right behaviors" and "repetitive/sensory sensitivity behaviors". CLB frequency peaked at 2-4 years with declines after age four. In contrast to the previous CRI studies reporting no gender difference, CLBs were more common in males in 12-23 and 48-59 month age groups on both total CLB frequency and repetitive/sensory sensitivity behaviors. Also ages of onsets for CRI items were somewhat later than reported in other samples. Our findings supported the findings of the previous CRI studies while also revealing new perspectives in need of further investigation.
C1 [Cevikaslan, Ahmet; Yazgan, Yanki] Marmara Univ, Sch Med, Child & Adolescent Psychiat Dept, Istanbul, Turkey.
[Evans, David W.] Bucknell Univ, Dept Psychol, Lewisburg, PA 17837 USA.
[Evans, David W.] Geisinger Bucknell Autism & Dev Med Ctr, Lewisburg, PA USA.
[Dedeoglu, Ceyda] Bogazici Univ, Dept Psychol, Istanbul, Turkey.
[Kalaca, Sibel] Marmara Univ, Sch Med, Prevent Med & Publ Hlth Dept, Istanbul, Turkey.
[Yazgan, Yanki] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
RP Yazgan, Y (reprint author), Marmara Univ, Sch Med, Child & Adolescent Psychiat Dept, Gullu Sokak,4,Ic Levent, Istanbul, Turkey.
EM yanki.yazgan@gmail.com
CR Allison C, 2008, J AUTISM DEV DISORD, V38, P1414, DOI 10.1007/s10803-007-0509-7
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 56
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD AUG
PY 2014
VL 45
IS 4
BP 472
EP 482
DI 10.1007/s10578-013-0417-3
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AK3KU
UT WOS:000338323400010
PM 24242356
ER
PT J
AU McDonald, CA
Volker, MA
Lopata, C
Toomey, JA
Thomeer, ML
Lee, GK
Lipinski, AM
Dua, EH
Schiavo, AM
Bain, F
Nelson, AT
AF McDonald, Christin A.
Volker, Martin A.
Lopata, Christopher
Toomey, Jennifer A.
Thomeer, Marcus L.
Lee, Gloria K.
Lipinski, Alanna M.
Dua, Elissa H.
Schiavo, Audrey M.
Bain, Fabienne
Nelson, Andrew T.
TI VMI-VI and BG-II KOPPITZ-2 for Youth With HFASDs and Typical Youth
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE motor skills; visual-motor; Bender-Gestalt-II; KOPPITZ-2; Developmental
Test of Visual-Motor Integration-6th ed.; high-functioning autism
spectrum disorders
ID BENDER-GESTALT-II; MOTOR; CHILDREN; PERFORMANCE; ADJUSTMENT
AB The visual-motor skills of 90 youth with high-functioning autism spectrum disorders (HFASDs) and 51 typically developing (TD) youth were assessed using the Beery-Buktenica Developmental Test of Visual-Motor Integration, Sixth Edition (VMI-VI) and Koppitz Developmental Scoring System for the Bender-Gestalt Test-Second Edition (KOPPITZ-2). Within-group comparisons (for both samples) yielded substantive mean differences between the KOPPITZ-2 composite and VMI-VI composite, Visual Perception and Motor Coordination sections of the VMI-VI, and VMI-VI composite and either VMI-VI supplemental tests. Between-group differences were assessed in a matched subsample of 33 participants from each group. The HFASD group scored significantly lower than the TD group on test sections requiring greater motor ability (i.e., VMI-VI composite, VMI-VI Motor Coordination, KOPPITZ-2 composite, and Bender-Gestalt Visual-Motor Test-Second Edition [BG-II]). Correlations between the KOPPITZ-2 composite and VMI-VI composite were .56 for the HFASD and .36 for the TD samples.
C1 [McDonald, Christin A.] Nationwide Childrens Hosp, Columbus, OH USA.
[Volker, Martin A.; Lee, Gloria K.; Lipinski, Alanna M.; Dua, Elissa H.; Bain, Fabienne; Nelson, Andrew T.] SUNY Buffalo, Buffalo, NY 14260 USA.
[Lopata, Christopher; Thomeer, Marcus L.] Canisius Coll, Buffalo, NY 14208 USA.
[Toomey, Jennifer A.; Schiavo, Audrey M.] Summit Educ Resources, Getzville, NY USA.
RP McDonald, CA (reprint author), Nationwide Childrens Hosp, Ctr Autism Spectrum Disorders, 187 W Schrock Rd, Westerville, OH 43081 USA.
EM Christin.Mcdonald@nationwidechildrens.org
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Archer RP, 2000, ASSESSMENT, V7, P227, DOI 10.1177/107319110000700303
Bart O, 2007, INFANT CHILD DEV, V16, P597, DOI 10.1002/icd.514
Beery K, 2010, BEERY BUKTENICA DEV
Brannigan G. G., 2003, BENDER VISUAL MOTOR
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Reynolds C. R., 2007, KOPPITZ DEV SCORING
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NR 18
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD AUG
PY 2014
VL 32
IS 5
BP 379
EP 389
DI 10.1177/0734282913514351
PG 11
WC Psychology, Educational
SC Psychology
GA AK1OY
UT WOS:000338185600001
ER
PT J
AU Foti, F
Mazzone, L
Menghini, D
De Peppo, L
Federico, F
Postorino, V
Baumgartner, E
Valeri, G
Petrosini, L
Vicari, S
AF Foti, F.
Mazzone, L.
Menghini, D.
De Peppo, L.
Federico, F.
Postorino, V.
Baumgartner, E.
Valeri, G.
Petrosini, L.
Vicari, S.
TI Learning by observation in children with autism spectrum disorder
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Autism spectrum disorder; imitation; observational learning; sequential
learning
ID MIRROR-NEURON SYSTEM; WORKING-MEMORY; IMITATION IMPAIRMENTS; REPETITIVE
BEHAVIOR; COGNITIVE CONTROL; SOCIAL COGNITION; BASAL GANGLIA; MOTOR;
DYSFUNCTION; FMRI
AB Background. Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Learning by observation requires specific skills such as attending, imitating and understanding contingencies. Individuals with autism spectrum disorder (ASD) exhibit deficits in these skills.
Method. The performance of 20 ASD children was compared with that of a group of typically developing (TD) children matched for chronological age (CA), IQ and gender on tasks of learning of a visuomotor sequence by observation or by trial and error. Acquiring the correct sequence involved three phases: a detection phase (DP), in which participants discovered the correct sequence and learned how to perform the task; an exercise phase (EP), in which they reproduced the sequence until performance was error free; and an automatization phase (AP), in which by repeating the error-free sequence they became accurate and speedy.
Results. In the DP, ASD children were impaired in detecting a sequence by trial and error only when the task was proposed as first, whereas they were as efficient as TD children in detecting a sequence by observation. In the EP, ASD children were as efficient as TD children. In the AP, ASD children were impaired in automatizing the sequence. Although the positive effect of learning by observation was evident, ASD children made a high number of imitative errors, indicating marked tendencies to hyperimitate.
Conclusions. These findings demonstrate the imitative abilities of ASD children although the presence of imitative errors indicates an impairment in the control of imitative behaviours.
C1 [Foti, F.; Petrosini, L.] Univ Roma La Sapienza, Dept Psychol, I-00185 Rome, Italy.
[Foti, F.; Petrosini, L.] IRCCS Fdn Santa Lucia, Rome, Italy.
[Mazzone, L.; Menghini, D.; De Peppo, L.; Postorino, V.; Valeri, G.; Vicari, S.] Bambino Gesu Pediat Hosp, Child Neuropsychiat Unit, Dept Neurosci, Rome, Italy.
[Federico, F.; Baumgartner, E.] Univ Roma La Sapienza, Dept Dev & Social Psychol, I-00185 Rome, Italy.
RP Foti, F (reprint author), Univ Roma La Sapienza, Dept Psychol, Via Marsi 78, I-00185 Rome, Italy.
EM francesca.foti@uniroma1.it
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NR 89
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0033-2917
EI 1469-8978
J9 PSYCHOL MED
JI Psychol. Med.
PD AUG
PY 2014
VL 44
IS 11
BP 2437
EP 2447
DI 10.1017/S003329171300322X
PG 11
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AK1TL
UT WOS:000338199200018
ER
PT J
AU Hollocks, MJ
Howlin, P
Papadopoulos, AS
Khondoker, M
Simonoff, E
AF Hollocks, Matthew J.
Howlin, Patricia
Papadopoulos, Andrew S.
Khondoker, Mizanur
Simonoff, Emily
TI Differences in HPA-axis and heart rate responsiveness to psychosocial
stress in children with autism spectrum disorders with and without
co-morbid anxiety
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Autistic disorder; Cortisol; Developmental disorders; Emotion; Mood
disorders
ID SALIVARY CORTISOL-LEVELS; PERVASIVE DEVELOPMENTAL DISORDERS;
SCHOOL-AGE-CHILDREN; SOCIAL PHOBIA; PSYCHIATRIC-DISORDERS; AUTONOMIC
FLEXIBILITY; REACTIVITY; ADOLESCENTS; PREVALENCE; POPULATION
AB Children and adolescents with autism spectrum disorder (ASD) have much higher rates of anxiety disorders relative to their typically developing peers. However, there have been few attempts to investigate what physiological parameters may be associated with this elevated rate of anxiety. Therefore, this study investigated the physiological correlates of anxiety in ASD, with a focus on whether measures of heart rate and cortisol responsiveness to psychosocial stress differentiate those participants with ASD with and without a co-occurring anxiety disorder. A total of 75 male participants aged 10-16 years with normal intellectual ability underwent a psychosocial stress test. The participants included healthy controls (n = 23), ASD only (ASD; n = 20) and ASD with a comorbid anxiety disorder (ASDanx; n = 32). Heart rate, heart rate variability and salivary cortisol were compared by fitting a piecewise regression model to examine baseline levels and change over time within and between the rest, stress and recovery phases of the stress test. The ASDanx group had different response patterns from both the ASD and control groups. The ASDanx group was characterized by a blunted cortisol and heart rate response to psychosocial stress. Furthermore, in the ASDanx group, reduced heart rate and cortisol responsiveness were significantly related to increased anxiety symptoms. This is the first study to report a possible physiological basis for co-occurring anxiety disorders in children and adolescents with ASD. It is possible that a non-adaptive physiological response to psychosocial stress may be related to the high prevalence of co-occurring anxiety disorders in people with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hollocks, Matthew J.; Simonoff, Emily] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England.
[Howlin, Patricia] Kings Coll London, Inst Psychiat, Dept Psychol, London SE5 8AF, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2141, Australia.
[Papadopoulos, Andrew S.] Kings Coll London, Inst Psychiat, Dept Psychol Med, London SE5 8AF, England.
[Khondoker, Mizanur] Kings Coll London, Inst Psychiat, Dept Biostat, London SE5 8AF, England.
[Simonoff, Emily] Biomed Res Ctr Mental Hlth, London SE5 8AF, England.
RP Hollocks, MJ (reprint author), Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, POB 85,16 De Crespigny Pk, London SE5 8AF, England.
EM matthew.hollocks@kcl.ac.uk
RI Khondoker, Mizanur/A-9860-2011
FU Biomedical Research Centre (BRC) in Mental Health [PCCKASA]; South
London and Maudsley Charitable Funds
FX This project was supported by the Biomedical Research Centre (BRC) in
Mental Health, code: PCCKASA.Funding for equipment and saliva analyses
was provided by a grant from the South London and Maudsley Charitable
Funds.
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NR 60
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD AUG
PY 2014
VL 46
BP 32
EP 45
DI 10.1016/j.psyneuen.2014.04.004
PG 14
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AK4RZ
UT WOS:000338413100004
PM 24882156
ER
PT J
AU Miller, M
Chukoskie, L
Zinni, M
Townsend, J
Trauner, D
AF Miller, M.
Chukoskie, L.
Zinni, M.
Townsend, J.
Trauner, D.
TI Dyspraxia, motor function and visual-motor integration in autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism; Dyspraxia; Motor; Visual-motor integration; Eye movement;
Cerebellum
ID DEVELOPMENTAL COORDINATION DISORDER; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; INFANTILE-AUTISM; YOUNG-CHILDREN; BASAL GANGLIA;
EXECUTIVE FUNCTION; INTERNAL-MODELS; EYE-MOVEMENTS; CEREBELLUM
AB This project assessed dyspraxia in high-functioning school aged children with autism with a focus on Ideational Praxis. We examined the association of specific underlying motor function including eye movement with ideational dyspraxia (sequences of skilled movements) as well as the possible role of visual-motor integration in dyspraxia. We found that compared to IQ-, sex- and age-matched typically developing children, the children with autism performed significantly worse on: Ideational and Buccofacial praxis; a broad range of motor tests, including measures of simple motor skill, timing and accuracy of saccadic eye movements and motor coordination; and tests of visual-motor integration. Impairments in individual children with autism were heterogeneous in nature, although when we examined the praxis data as a function of a qualitative measure representing motor timing, we found that children with poor motor timing performed worse on all praxis categories and had slower and less accurate eye movements while those with regular timing performed as well as typical children on those same tasks. Our data provide evidence that both motor function and visual-motor integration contribute to dyspraxia. We suggest that dyspraxia in autism involves cerebellar mechanisms of movement control and the integration of these mechanisms with cortical networks implicated in praxis. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Miller, M.] Univ Calif San Diego, Sch Med, La Jolla, CA 92093 USA.
[Chukoskie, L.] Univ Calif San Diego, Inst Neural Computat, La Jolla, CA 92093 USA.
[Zinni, M.; Townsend, J.; Trauner, D.] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA.
RP Townsend, J (reprint author), Univ Calif San Diego, Dept Neurosci, 9500 Gilman Dr,MC-0959, La Jolla, CA 92093 USA.
EM jtownsend@ucsd.edu
FU NIH [2 T35 HL 7491-31]; NINDS [P50-NS22343, R21-NS070296]; NSF [SMA
1041755]
FX This study was funded by the NIH 2 T35 HL 7491-31 (MM), NINDS
P50-NS22343 (DT), NINDS R21-NS070296 (JT) and NSF SMA 1041755 TDLC
Science of Learning Center (LC). Tyler Brocklehurst (Institute for
Neural Computation, UCSD) and Carin Rojas (School of Medicine,
Northwestern University) who served as trained raters scoring praxis
videos.
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NR 95
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 1
PY 2014
VL 269
BP 95
EP 102
DI 10.1016/j.bbr.2014.04.011
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ7GY
UT WOS:000337866400014
PM 24742861
ER
PT J
AU Zhang-James, Y
Yang, L
Middleton, FA
Yang, LN
Patak, J
Faraone, SV
AF Zhang-James, Yanli
Yang, Li
Middleton, Frank A.
Yang, Lina
Patak, Jameson
Faraone, Stephen V.
TI Autism-related behavioral phenotypes in an inbred rat substrain
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE WKY; Substrain; Social interaction; Ultrasonic vocalization; Inbred rat
ID SPONTANEOUSLY HYPERTENSIVE-RAT; MICE MUS-MUSCULUS; ANIMAL-MODEL;
ULTRASONIC VOCALIZATIONS; SPECTRUM DISORDERS; RODENT MODELS; WKY RATS;
CHILDREN; DEPRESSION; ATTENTION
AB Behavioral and genetic differences among Wistar-Kyoto (WKY) rats from different vendors and different breeders have long been observed, but generally overlooked. In our prior work, we found that two closely related WKY substrains, the WKY/NCrl and WKY/NHsd rats, differ in a small percentage of their genome which appeared to be highly enriched for autism risk genes. Although both substrains have been used widely in studies of hypertension, attention deficit/hyperactivity disorder (ADHD) and depression, they have not been tested for any autism-related behavioral phenotypes. Furthermore, these two substrains have often been used interchangeably in previous studies; no study has systematically examined the phenotypic differences that could be attributed by their small yet potentially meaningful genetic differences. In this paper we compared these two substrains on a battery of neurobehavioral tests. Although two substrains were similar in locomotor activity, WKY/NCrl rats were significantly different from WKY/NHsd rats in the elevated plus maze test, as well as measures of social interaction and ultrasonic vocalization. These strains were also compared with Sprague Dawley (SD) rats, a common outbred strain, and spontaneous hypertensive rats (SHR), an inbred rat model for ADHD and hypertension, which were derived from the same ancestor strain as the WKY strains. Our behavioral findings suggest that WKY/NCrl rats may be useful as a model autism spectrum disorders due to their lower social interest, lower ultrasonic vocalization and higher anxiety levels when WKY/NHsd rats are used as the control strain. Given the small genetic difference between the two inbred substrains, future studies to identify the exact gene and sequence variants that differ between the two may be useful for identifying the genetic mechanisms underlying these behaviors. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Zhang-James, Yanli; Middleton, Frank A.; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Middleton, Frank A.; Yang, Lina; Patak, Jameson; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
[Yang, Li] Peking Univ, Hosp 6, Inst Mental Hlth, Beijing 100871, Peoples R China.
RP Faraone, SV (reprint author), SUNY Upstate Med Univ, 750 E Adams St, Syracuse, NY 13210 USA.
EM Zhangy@upstate.edu; yangli_pkuimh@bjmu.edu.cn; middletf@upstate.edu;
yanglin@upstate.edu; patakj@upstate.edu; sfaraone@childpsychresearch.org
FU NIH [R01MH066877]; NARSAD Young Investigator Award
FX We thank Dr. Valerie Bolivar for helpful comments on the manuscript.
This study was supported by NIH Grant R01MH066877 to Dr. Stephen Faraone
and a NARSAD Young Investigator Award to Dr. Yanli Zhang-James.
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NR 44
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD AUG 1
PY 2014
VL 269
BP 103
EP 114
DI 10.1016/j.bbr.2014.04.035
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ7GY
UT WOS:000337866400015
PM 24780868
ER
PT J
AU Tostanoski, A
Lang, R
Raulston, T
Carnett, A
Davis, T
AF Tostanoski, Amy
Lang, Russell
Raulston, Tracy
Carnett, Amarie
Davis, Tonya
TI Voices from the past: Comparing the rapid prompting method and
facilitated communication
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Rapid Prompting Method; facilitated communication; intervention;
communication; autism; pseudoscience
ID TEACHING JOINT ATTENTION; AUTISM; CHILDREN; PSEUDOSCIENCE; INTERVENTION;
SCIENCE; GAZE
AB Objective: This article briefly reviews the history and damage caused by facilitated communication (FC) and highlights the parallels between FC and the Rapid Prompting Method (RPM).
Background: FC involves a therapist (or facilitator) supporting the hand of a person with autism while a message is typed on a letter board. FC is widely acknowledged to be a pseudoscientific, unsafe, and unethical treatment for people with autism. RPM is a more recent intervention for people with autism that involves the facilitator holding and moving the letter board while the individual with autism moves their own hand. Those who espouse the perceived benefits of FC and RPM make strikingly similar claims of hidden intelligence and extraordinary communication abilities in people with autism following treatment.
Conclusion: Clients, proponents, and practitioners of RPM should demand scientific validation of RPM in order to ensure the safety of people with disabilities that are involved with RPM.
C1 [Tostanoski, Amy; Lang, Russell; Raulston, Tracy; Carnett, Amarie] Texas State Univ San Marcos, Clin Autism Res Evaluat & Support, San Marcos, TX 78666 USA.
[Lang, Russell] Texas State Univ San Marcos, Dept Curriculum & Instruct, San Marcos, TX 78666 USA.
[Davis, Tonya] Baylor Univ, Dept Educ Psychol, Waco, TX 76798 USA.
RP Lang, R (reprint author), Texas State Univ San Marcos, Dept Curriculum & Instruct, 601 Univ Dr, San Marcos, TX 78666 USA.
EM russlang@txstate.edu
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NR 28
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD AUG
PY 2014
VL 17
IS 4
BP 219
EP 223
DI 10.3109/17518423.2012.749952
PG 5
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AJ8JK
UT WOS:000337949100001
PM 24102487
ER
PT J
AU Marschik, PB
Vollmann, R
Bartl-Pokorny, KD
Green, VA
van der Meer, L
Wolin, T
Einspieler, C
AF Marschik, Peter B.
Vollmann, Ralf
Bartl-Pokorny, Katrin D.
Green, Vanessa A.
van der Meer, Larah
Wolin, Thomas
Einspieler, Christa
TI Developmental profile of speech-language and communicative functions in
an individual with the Preserved Speech Variant of Rett syndrome
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Communication; language; preserved speech variant; Rett syndrome; speech
ID VIDEO ANALYSIS; HOME VIDEO; AUTISM; DISORDER; CHILDREN; INFANTS; GIRLS;
DIAGNOSIS; MECP2; AGE
AB Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years.
Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri-and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences.
Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality.
Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.
C1 [Marschik, Peter B.; Bartl-Pokorny, Katrin D.; Wolin, Thomas; Einspieler, Christa] Med Univ Graz, Inst Physiol IN Spired Dev Physiol & Dev Neurosci, Ctr Physiol Med, A-8010 Graz, Austria.
[Vollmann, Ralf] Karl Franzens Univ Graz, Dept Linguist, Graz, Austria.
[Green, Vanessa A.; van der Meer, Larah] Victoria Univ Wellington, Dept Educ Psychol, Wellington, New Zealand.
RP Marschik, PB (reprint author), Med Univ Graz, Inst Physiol IN Spired Dev Physiol & Dev Neurosci, Ctr Physiol Med, Harrachgasse 21-5, A-8010 Graz, Austria.
EM peter.marschik@medunigraz.at
FU Austrian Science Fund [FWF - P25241]; Lanyar Foundation [P337]
FX This study was supported by the Austrian Science Fund (FWF - P25241) and
the Lanyar Foundation (P337).
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NR 54
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD AUG
PY 2014
VL 17
IS 4
BP 284
EP 290
DI 10.3109/17518423.2013.783139
PG 7
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AJ8JK
UT WOS:000337949100009
PM 23870013
ER
PT J
AU Langmaid, RA
Papadopoulos, N
Johnson, BP
Phillips, JG
Rinehart, NJ
AF Langmaid, Rebecca A.
Papadopoulos, Nicole
Johnson, Beth P.
Phillips, James G.
Rinehart, Nicole J.
TI Handwriting in Children With ADHD
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; fine motor control
ID DEFICIT-HYPERACTIVITY DISORDER; MOTOR COORDINATION; ATTENTION;
METHYLPHENIDATE; PERFORMANCE; MECHANISMS; DISEASE; FINE
AB Objective: Children with ADHD-combined type (ADHD-CT) display fine and gross motor problems, often expressed as handwriting difficulties. This study aimed to kinematically characterize the handwriting of children with ADHD using a cursive letter l's task. Method: In all, 28 boys (7-12 years), 14 ADHD-CT and 14 typically developing (TD), without developmental coordination disorder (DCD) or comorbid autism, wrote a series of four cursive letter l's using a graphics tablet and stylus. Results: Children with ADHD-CT had more inconsistent writing size than did TD controls. In addition, ADHD-CT symptom severity, specifically inattention, predicted poorer handwriting outcomes. Conclusion: In a sample of children with ADHD-CT who do not have DCD or autism, subtle handwriting differences were evident. It was concluded that handwriting might be impaired in children with ADHD in a manner dependent on symptom severity. This may reflect reports of underlying motor impairment in ADHD.
C1 [Langmaid, Rebecca A.; Papadopoulos, Nicole; Johnson, Beth P.; Phillips, James G.; Rinehart, Nicole J.] Monash Univ, Clayton, Vic 3800, Australia.
RP Rinehart, NJ (reprint author), Ctr Dev Psychiat & Psychol, 270 Ferntree Gully Rd, Notting Hill, Vic, Australia.
EM nicole.rinehart@monash.edu
FU National Health and Medical Research Council (NHMRC); Monash University
[436609, APP1004387]
FX The author(s) disclosed receipt of the following financial support for
the research and/or authorship of this article: The funding for this
research was provided in part by the National Health and Medical
Research Council (NHMRC) and Monash University [Project Grant 436609;
Project Grant APP1004387].
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NR 35
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD AUG
PY 2014
VL 18
IS 6
BP 504
EP 510
DI 10.1177/1087054711434154
PG 7
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AJ9HF
UT WOS:000338018200003
PM 22617862
ER
PT J
AU Novotny, MA
Sharp, KJ
Rapp, JT
Jelinski, JD
Lood, EA
Steffes, AK
Ma, M
AF Novotny, Marissa A.
Sharp, Katheryne J.
Rapp, John T.
Jelinski, Joel D.
Lood, Elizabeth A.
Steffes, Ayriel K.
Ma, Monica
TI False positives with visual analysis for nonconcurrent multiple baseline
designs and ABAB designs: Preliminary findings
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE AB designs; ABAB designs; False positives; Nonconcurrent multiple
baseline designs; Reversal designs; Single-subject designs
ID YOUNG-CHILDREN; INTERVENTIONS; ACQUISITION; TECHNOLOGY; CONCURRENT;
AUTISM; ADULTS; SKILLS
AB This study evaluated the probability of generating false positives with three-tier nonconcurrent multiple baseline (NMBL) designs and ABAB designs. For Experiment 1, we generated four sets of three-tier NMBL design graphs. The first, second, and third sets consisted of fixed A-phase data points for all three tiers at 0%, 25% and 50%, respectively, and randomly generated data points in the B phases. The fourth set consisted of randomly generated data points in the A and B phases for all three tiers. Across all four sets (N=1000), results show that false positives were produced with 7.5% of three-tier NMBL design graphs and were most probable when baseline levels were set at 0% or 25%. For Experiment 2, we generated 3000 ABAB design graphs consisting of three to five data points per phase. Results indicate that no false positives were produced, regardless of the number of data points included in each phase. Results of this study support specific guidelines for the use of NMBL designs and ABAB designs. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Novotny, Marissa A.; Sharp, Katheryne J.; Jelinski, Joel D.; Lood, Elizabeth A.; Steffes, Ayriel K.] St Cloud State Univ, St Cloud, MN 56301 USA.
[Rapp, John T.] Auburn Univ, Auburn, AL 36849 USA.
[Ma, Monica] Calif State Univ Sacramento, Sacramento, CA 95819 USA.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
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NR 35
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 933
EP 943
DI 10.1016/j.rasd.2014.04.009
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600001
ER
PT J
AU Matsuda, S
Yamamoto, J
AF Matsuda, Soichiro
Yamamoto, Junichi
TI Computer-based intervention for inferring facial expressions from the
socio-emotional context in two children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Facial expressions; Autism; Matching-to-sample; Socio-emotional
situations; Emotion recognition
ID PERVASIVE DEVELOPMENTAL DISORDERS; CONDITIONAL DISCRIMINATION;
DIAGNOSTIC INTERVIEW; ASPERGERS-SYNDROME; AFFECTIVE PROSODY; BASIC
EMOTIONS; YOUNG-CHILDREN; RECOGNITION; PEOPLE; FACES
AB Difficulties in understanding others' emotions have been widely reported in autism spectrum disorders (ASDs). Many methodologies for evaluating the emotion recognition can be analyzed by matching-to-sample (MTS) procedures. When using movies of socio-emotional situations as sample stimuli, children with ASD have been found to have difficulties in understanding them. Furthermore, there are few intervention studies that have targeted understanding of socio-emotional situations in children with ASD. The present study examined whether two young children with ASD can acquire the relationships between movies of socio-emotional situations and pictures of facial expressions through computer-based MTS training. The movies of situations and pictures of facial expressions represented happy, surprised, angry and sad emotions. The child with ASD was required to select the picture of facial expression when presented with the movie of socio-emotional situations as a sample stimulus, and if so, whether these skills can be generalized to untrained stimuli. We used a multiple baseline design across participants, and the results demonstrated that both children learned the relationships and improved their performance with untrained stimuli. These findings are discussed in terms of procedures to increase the understanding of others' emotions at an early developmental stage. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matsuda, Soichiro; Yamamoto, Junichi] Keio Univ, Dept Psychol, Tokyo, Japan.
RP Matsuda, S (reprint author), Keio Univ, Dept Psychol, Minato Ku, 2-15-45 Mita, Tokyo, Japan.
EM atom.opens.the.stargate@gmail.com
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 39
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 944
EP 950
DI 10.1016/j.rasd.2014.04.010
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600002
ER
PT J
AU Goldin, RL
Matson, JL
Konst, MJ
Adams, HL
AF Goldin, Rachel L.
Matson, Johnny L.
Konst, Matthew J.
Adams, Hilary L.
TI A comparison of children and adolescents with ASD, atypical development,
and typical development on the Behavioral Assessment System for
Children, Second Edition (BASC-2)
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Atypical development; BASC-2
ID AUTISM-SPECTRUM DISORDERS; PSYCHIATRIC-DISORDERS; INTELLECTUAL
DISABILITIES; CHALLENGING BEHAVIORS; FEEDING PROBLEMS; TRAITS BISCUIT;
INFANT SCREEN; PREVALENCE; PSYCHOPATHOLOGY; SYMPTOMS
AB The present study examined the use of the Behavioral Assessment System for Children, Second Edition (BASC-2) in discerning 151 children and adolescents 12-16 years of age with autism spectrum disorder (ASD) from atypically and typically developing children and adolescents. Scores on the BASC-2 composites (i.e., externalizing behaviors, internalizing behaviors, behavior symptom index [BSI], adaptive behaviors) and subscales (i.e., hyperactivity, aggression, conduct problems, anxiety, depression, somatization, atypicality, withdrawal, attention, adaptability, social skills, leadership, activities of daily living, functional communication) were compared between children and adolescents with ASD, atypical development, and typical development. With the exception of aggression, somatization, and internalizing behaviors, participants with ASD were significantly more impaired than typically developing participants in all other composites and subscales. In comparison to atypically developing participants, the scores of participants with ASD evinced more impairment for BSI and its subscales, with the exception of attention, and the adaptive behavior composite and its subscales, with the exception of adaptability. Scores on the externalizing behaviors and internalizing behaviors composites and their subscales, with the exception of anxiety, were not significantly different. Research and clinical implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Goldin, Rachel L.; Matson, Johnny L.; Konst, Matthew J.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgoldi3@lsu.edu
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NR 59
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 951
EP 957
DI 10.1016/j.rasd.2014.04.005
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600003
ER
PT J
AU Dolev, S
Oppenheim, D
Koren-Karie, N
Yirmiya, N
AF Dolev, Smadar
Oppenheim, David
Koren-Karie, Nina
Yirmiya, Nurit
TI Early attachment and maternal insightfulness predict educational
placement of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Educational placement; Maternal insightfulness; Attachment
ID SPECTRUM DISORDER; SEVERE DISABILITIES; YOUNG-CHILDREN; MOTHERS
INSIGHTFULNESS; INTERNAL EXPERIENCE; PRESCHOOL-CHILDREN;
MENTAL-RETARDATION; PARENTS; SENSITIVITY; INFANTS
AB We examined whether mothers' insightfulness - their capacity to "see things from the child's point of view" - and children's attachment, both assessed during the preschool years, are associated with the educational placement of children with ASD in middle childhood and early adolescence beyond the prediction offered by children's IQ and interactive competence. 39 boys with autism and their mothers participated. We assessed mothers' insightfulness, and children's attachment to their mothers, their intelligence and their interactional competencies. The results supported our hypothesis. The emotional quality of the relationship between the children and their mothers during the preschool age, as reflected in the mothers' insightfulness and the children's attachment security, predicted children's educational placement in inclusive programs 4.5 and 8.5 years later, over and above the prediction offered by children's IQ and their interactive competence. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dolev, Smadar] Oranim Coll Educ, Early Childhood Dept, IL-36006 Tivon, Israel.
[Oppenheim, David; Koren-Karie, Nina] Ctr Study Child Dev, IL-3498838 Haifa, Israel.
[Yirmiya, Nurit] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel.
RP Dolev, S (reprint author), Oranim Coll Educ, Early Childhood Dept, IL-36006 Tivon, Israel.
EM smadar_d@oranim.ac.il; oppenhei@psy.haifa.ac.il; nkoren@psy.haifa.ac.il;
nyirmiya@gmail.com
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NR 51
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 958
EP 967
DI 10.1016/j.rasd.2014.04.012
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600004
ER
PT J
AU Matson, JL
Jang, JN
AF Matson, Johnny L.
Jang, Jina
TI Conceptualizing skills that are most critical in diagnosing autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Core symptoms; Autism; Differential diagnosis; DSM-5
ID PERVASIVE DEVELOPMENTAL DISORDER; DSM-IV-TR; INTENSIVE BEHAVIORAL
INTERVENTION; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; CHALLENGING
BEHAVIORS; ASPERGERS SYNDROME; FEEDING PROBLEMS; INFANT SCREEN; PDD-NOS
AB Autism spectrum disorders (ASD) consist of a broad but heterogeneous group of symptoms. This factor has resulted in a debate as to whether the disorder is a unitary construct or a group of related disorders with a similar symptom presentation. Additionally, some core symptoms are seen in other developmental disabilities such as intellectual disability. This review covers these and related issues in the context of what symptoms are most critical for diagnosing ASD and distinguishing it from other developmental disabilities. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Jang, Jina] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Jang, JN (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM Jinajang87@gmail.com
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NR 68
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 968
EP 973
DI 10.1016/j.rasd.2014.04.011
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600005
ER
PT J
AU Makinen, L
Loukusa, S
Leinonen, E
Moilanen, I
Ebeling, H
Kunnari, S
AF Makinen, Leena
Loukusa, Soile
Leinonen, Eeva
Moilanen, Irma
Ebeling, Hanna
Kunnari, Sari
TI Characteristics of narrative language in autism spectrum disorder:
Evidence from the Finnish
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Comprehension; Linguistic structure;
Narratives; Pragmatics; Referencing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; COHERENCE ACCOUNT;
NORMAL-CHILDREN; STORY RECALL; ABILITY; COMMUNICATION; IMPAIRMENT;
SYMPTOMATOLOGY; COMPREHENSION
AB This study examined linguistic and pragmatic aspects of narrative abilities of children with autism spectrum disorder (ASD), which have not been studied thoroughly and not at all in Finnish. Sixteen five- to ten-year-old Finnish high-functioning children with ASD (mean age 7;7 years) and 16 age-matched typically developing children (mean age 7;5 years) participated in this study. Children's picture-based narrations were analyzed for narrative productivity, syntactic complexity, referential accuracy, event content, use of additional and extraneous information, mental state expressions, and narrative comprehension. Several linguistic- and pragmatic-based measures were used in order to gain a comprehensive picture of strengths and weaknesses that children with ASD might show in storytelling. The use of linguistic structure, referential accuracy and mental state expressions was similar between the groups. However, children with ASD showed difficulties in establishing informative story content, making inferences from story events and an ability not to include extraneous information into their stories. Therefore, the problems seen in their narrative language use can be described as being related to pragmatic aspects of narration. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Makinen, Leena; Loukusa, Soile; Kunnari, Sari] Univ Oulu, Fac Humanities Logoped, Oulu 90014, Finland.
[Makinen, Leena; Loukusa, Soile; Kunnari, Sari] Univ Oulu, Child Language Res Ctr, Oulu 90014, Finland.
[Leinonen, Eeva] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia.
[Moilanen, Irma; Ebeling, Hanna] Univ Hosp Oulu, Inst Clin Med, Dept Child Psychiat, Oulu 90029, Finland.
RP Makinen, L (reprint author), Univ Oulu, Fac Humanities Logoped, POB 1000, Oulu 90014, Finland.
EM leena.makinen@oulu.fi; soile.loukusa@oulu.fi; leinonen@uow.edu.au;
irma.moilanen@oulu.fi; hanna.ebeling@oulu.fi; sari.kunnari@oulu.fi
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 53
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD AUG
PY 2014
VL 8
IS 8
BP 987
EP 996
DI 10.1016/j.rasd.2014.05.001
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AJ8UF
UT WOS:000337982600007
ER
PT J
AU Tanaka, JW
Quim, PC
Xu, BY
Maynard, K
Huxtable, N
Lee, K
Pascalis, O
AF Tanaka, James W.
Quim, Paul C.
Xu, Buyun
Maynard, Kim
Huxtable, Natalie
Lee, Kang
Pascalis, Olivier
TI The effects of information type (features vs. configuration) and
location (eyes vs. mouth) on the development of face perception
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Face recognition; Face perception; Configural processing; Featural
processing; Face strategies
ID AUTISM SPECTRUM DISORDER; FACIAL FEATURES; PROCESSING DEVELOPS; NEWBORNS
PREFERENCE; SPATIAL RELATIONS; EARLY MATURITY; RECOGNITION; INVERSION;
PROSOPAGNOSIA; SENSITIVITY
AB The goal of the current study was to investigate the development of face processing strategies in a perceptual discrimination task. Children (7-12 years of age) and young adults were administered the Face Dimensions Task. In the Face Dimensions Task, participants were asked to judge whether two simultaneously presented faces were the "same" or "different". For the "same" trials, the two faces were identical. For the "different" trials, the faces differed in either the spacing between the eyes, the spacing between the nose and the mouth, the size of the eyes, or the size of the mouth. The main finding was that 7- to 10-year-old children showed no difference in their ability to discriminate differences in eye size and eye spacing but showed a poor ability to discriminate differences in nose and mouth spacing and, to a lesser extent, mouth size. The developmental lag between nose-mouth discriminations and the other featural and configural discriminations was reduced in older children and eliminated by young adulthood. These results indicate that the type of face information (i.e., configural vs. featural) and its location (i.e., eye vs. mouth) jointly contribute to the development of face perception abilities. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Tanaka, James W.; Xu, Buyun; Maynard, Kim; Huxtable, Natalie] Univ Victoria, Dept Psychol, Victoria, BC V8W 3P5, Canada.
[Quim, Paul C.] Univ Delaware, Dept Psychol, Newark, DE 19716 USA.
[Lee, Kang] Univ Toronto, Eric Jackman Inst Child Study, Toronto, ON M5S 1V6, Canada.
[Pascalis, Olivier] Univ Pierre Mendes France, Lab Psychol & Neurocognit, CNRS UMR 5105, F-38040 Grenoble, France.
RP Tanaka, JW (reprint author), Univ Victoria, Dept Psychol, POB 3050, Victoria, BC V8W 3P5, Canada.
EM jtanaka@uvic.ca
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NR 51
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD AUG
PY 2014
VL 124
BP 36
EP 49
DI 10.1016/j.jecp.2014.01.001
PG 14
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AJ4KX
UT WOS:000337646300003
PM 24747157
ER
PT J
AU Henderson, V
Davidson, J
Hemsworth, K
Edwards, S
AF Henderson, Victoria
Davidson, Joyce
Hemsworth, Katie
Edwards, Sophie
TI Hacking the master code: cyborg stories and the boundaries of autism
SO SOCIAL & CULTURAL GEOGRAPHY
LA English
DT Article
DE cyborg; autism; disability; technology; normalcy; Internet
ID GEOGRAPHIES; INTERNET; ONLINE; SPACES; UNDERSTANDINGS; COMMUNICATION;
INFORMATION; DISABILITY; SPECTRUM; IDENTITY
AB In this paper, we consider how the use of Internet technologies by individuals on the autism spectrum (AS) may contribute to recoding the spatial, sociopolitical, ontological, and epistemological boundaries commonly assumed to delimit autistic from non-autistic lifeworlds. Drawing on the work of Donna Haraway, we argue that the responses of AS individuals to a survey about online communication suggest these individuals are engaged in a form of cyborg writing, admixing constraints and opportunities in a way that opens alternative, polycentric, and indeterminate but nonetheless important political possibilities for people on (and off) the AS.
C1 [Henderson, Victoria; Davidson, Joyce; Hemsworth, Katie; Edwards, Sophie] Queens Univ, Dept Geog, Kingston, ON K7L 3N6, Canada.
RP Henderson, V (reprint author), Queens Univ, Dept Geog, Mackintosh Corry Hall,Room D201, Kingston, ON K7L 3N6, Canada.
EM victoria.henderson@queensu.ca
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NR 79
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1464-9365
EI 1470-1197
J9 SOC CULT GEOGR
JI Soc. Cult. Geogr.
PD AUG
PY 2014
VL 15
IS 5
BP 504
EP 524
DI 10.1080/14649365.2014.898781
PG 21
WC Geography
SC Geography
GA AJ3TK
UT WOS:000337590100002
ER
PT J
AU Brosnan, M
Hollinworth, M
Antoniadou, K
Lewton, M
AF Brosnan, Mark
Hollinworth, Melissa
Antoniadou, Konstantina
Lewton, Marcus
TI Is Empathizing intuitive and Systemizing deliberative?
SO PERSONALITY AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Empathizing; Systemizing; E-S theory; Intuition; Deliberation; Dual
process theory
ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; MALE BRAIN THEORY;
ASPERGER-SYNDROME; INDIVIDUAL-DIFFERENCES; EMOTION RECOGNITION; SPECTRUM
DISORDERS; FACIAL EXPRESSIONS; DECISION-MAKING; ADULTS
AB This is the first study to explore the relationship between Empathizing-Systemizing (E-S) theory that provides an account of sex differences in human cognition and dual process theories of cognition. 68 Undergraduates undertook both performance and self-report assessments of Empathizing, intuition, Systemizing and deliberation. A fast (500 ms) and slow (5000 ms) version of the Reading the Mind in the Eyes Task (RMET) was included to explore the effects of rapid presentation on emotional stimuli. Consistent with E-S theory, sex differences were found in Empathizing (favouring females) and Systemizing (favouring males). Females were also found to be more intuitive and males more deliberative for performance, but not self-report, assessments of intuition and deliberation. Empathizing significantly positively correlated with intuition and negatively with deliberation. Conversely. Systemizing significantly positively correlated with deliberation and negatively with intuition (trend). This pattern was replicated in a study of 65 participants from the general population. The exception was the RMET which had no significant sex differences or correlates (fast or slow). The implications for considering both dual process theories of cognition and E-S theory are discussed, with a focus upon the implications for Autism Spectrum Disorder and psychosis. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Brosnan, Mark; Hollinworth, Melissa; Lewton, Marcus] Univ Bath, Bath BA2 7AY, Avon, England.
[Antoniadou, Konstantina] Maastricht Univ, NL-6200 MD Maastricht, Netherlands.
RP Brosnan, M (reprint author), Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England.
EM M.J.Brosnan@Bath.ac.uk
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Walsh J. A., 2013, J AUTISM DEV DISORDE
NR 38
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0191-8869
J9 PERS INDIV DIFFER
JI Pers. Individ. Differ.
PD AUG
PY 2014
VL 66
BP 39
EP 43
DI 10.1016/j.paid.2014.03.006
PG 5
WC Psychology, Social
SC Psychology
GA AI9OO
UT WOS:000337262100009
ER
PT J
AU Dockrell, JE
Ricketts, J
Charman, T
Lindsay, G
AF Dockrell, Julie E.
Ricketts, Jessie
Charman, Tony
Lindsay, Geoff
TI Exploring writing products in students with language impairments and
autism spectrum disorders
SO LEARNING AND INSTRUCTION
LA English
DT Article
DE Written text production; Language impairment; ASD; Transcription; Text
generation
ID CURRICULUM-BASED MEASURES; MIDDLE SCHOOL STUDENTS; WRITTEN LANGUAGE;
LEARNING-DISABILITIES; WORKING-MEMORY; ORAL LANGUAGE; AGE-CHILDREN;
EXPRESSION; SKILLS; INSTRUCTION
AB Oral language skills scaffold written text production; students with oral language difficulties often experience writing problems. The current study examines the ways in which oral language problems experienced by students with language impairment (LI) and students with autism spectrum disorders (ASD) impact on their production of written text. One hundred and fifty seven participants (M-age = 10;2) with LI or ASD completed standardized measures of oral language, transcription, working memory, and nonverbal ability and produced a written narrative text assessed for productivity, grammatical accuracy, and quality. Measures of transcription, productivity, and grammatical accuracy, but not text quality, were poorer for students with LI. Transcription skills accounted for the majority of variance in the writing of the LI cohort. For the ASD cohort, handwriting, oral language and autism symptomatology were significant predictors. When students with ASD also experienced language problems, their performance was equivalent to that observed in the LI cohort. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dockrell, Julie E.] Univ London, Inst Educ, Dept Psychol & Human Dev, London WC1E 7HU, England.
[Ricketts, Jessie] Univ Reading, Inst Educ, Reading RG6 2AH, Berks, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Lindsay, Geoff] Univ Warwick, CEDAR, Coventry CV4 7AL, W Midlands, England.
RP Dockrell, JE (reprint author), Inst Educ, 25 Woburn Sq, London WC1H 0AL, England.
EM julie.dockrell@ioe.ac.uk
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World Health Organization, 1993, MENT DIS GLOSS GUID
NR 74
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0959-4752
J9 LEARN INSTR
JI Learn Instr.
PD AUG
PY 2014
VL 32
BP 81
EP 90
DI 10.1016/j.learninstruc.2014.01.008
PG 10
WC Education & Educational Research; Psychology, Educational
SC Education & Educational Research; Psychology
GA AG0NJ
UT WOS:000335111900008
ER
PT J
AU Gonzalez-Gadea, ML
Tripicchio, P
Rattazzi, A
Baez, S
Marino, J
Roca, M
Manes, F
Ibanez, A
AF Luz Gonzalez-Gadea, Maria
Tripicchio, Paula
Rattazzi, Alexia
Baez, Sandra
Marino, Julian
Roca, Maria
Manes, Facundo
Ibanez, Agustin
TI Inter-individual cognitive variability in children with Asperger's
syndrome
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE individual variability; fluid intelligence; theory of mind; executive
functions; Asperger's syndrome
ID HIGH-FUNCTIONING AUTISM; OSTERRIETH COMPLEX FIGURE; PERVASIVE
DEVELOPMENTAL DISORDER; FRONTAL-LOBE LESIONS; MULTIPLE CASE SERIES;
SPECTRUM DISORDERS; FLUID INTELLIGENCE; EXECUTIVE FUNCTION; DISEMBEDDING
PERFORMANCE; PARIETAL CORTEX
AB Multiple studies have tried to establish the distinctive profile of individuals with Asperger's syndrome (AS). However, recent reports suggest that adults with AS feature heterogeneous cognitive profiles. The present study explores inter-individual variability in children with AS through group comparison and multiple case series analysis. All participants completed an extended battery including measures of fluid and crystallized intelligence, executive functions, theory of mind, and classical neuropsychological tests. Significant group differences were found in theory of mind and other domains related to global information processing. However, the AS group showed high inter-individual variability (both sub- and supra-normal performance) on most cognitive tasks. Furthermore, high fluid intelligence correlated with less general cognitive impairment, high cognitive flexibility, and speed of motor processing. In light of these findings, we propose that children with AS are characterized by a distinct, uneven pattern of cognitive strengths and weaknesses.
C1 [Luz Gonzalez-Gadea, Maria; Tripicchio, Paula; Rattazzi, Alexia; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Favaloro Univ, Inst Cognit Neurol, Lab Expt Psychol & Neurosci, Buenos Aires, DF, Argentina.
[Luz Gonzalez-Gadea, Maria; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Natl Sci & Tech Res Council, Buenos Aires, DF, Argentina.
[Luz Gonzalez-Gadea, Maria; Baez, Sandra; Roca, Maria; Manes, Facundo; Ibanez, Agustin] Diego Portales Univ, UDP INECO Fdn Core Neurosci, Santiago, Chile.
[Baez, Sandra] Univ Catolica Argentina, Buenos Aires, DF, Argentina.
[Marino, Julian] Univ Nacl Cordoba, Fac Psicol, RA-5000 Cordoba, Argentina.
[Manes, Facundo; Ibanez, Agustin] Australian Res Council, Ctr Excellence Cognit & Its Disorders, Sydney, NSW, Australia.
[Manes, Facundo; Ibanez, Agustin] Univ Autonoma Caribe, Barranquilla, Colombia.
RP Ibanez, A (reprint author), Favaloro Univ, Inst Cognit Neurol, Lab Expt Psychol & Neurosci, Pacheco de Melo 1854-60 C1126AAB, Buenos Aires, DF, Argentina.
EM aibanez@ineco.org.ar
FU CONICET; CONICYT/FONDECYT Regular [1130920, 1140114]; FONCyT-PICT
[2012-0412, 2012-1309]; INECO Foundation; Fiat Foundation
FX This work was partially supported by grants from CONICET,
CONICYT/FONDECYT Regular (1130920 and 1140114), FONCyT-PICT 2012-0412,
FONCyT-PICT 2012-1309, the INECO Foundation, and Fiat Foundation. The
authors thank Asociacion Asperger Argentina, Ernesto Walhberg, and Sofia
Peluffo for helping with the patient recruitment process.
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NR 92
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JUL 31
PY 2014
VL 8
AR 575
DI 10.3389/fnhum.2014.00575
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AN5CM
UT WOS:000340606900001
PM 25132817
ER
PT J
AU Dore, AS
Okrasa, K
Patel, JC
Serrano-Vega, M
Bennett, K
Cooke, RM
Errey, JC
Jazayeri, A
Khan, S
Tehan, B
Weir, M
Wiggin, GR
Marshall, FH
AF Dore, Andrew S.
Okrasa, Krzysztof
Patel, Jayesh C.
Serrano-Vega, Maria
Bennett, Kirstie
Cooke, Robert M.
Errey, James C.
Jazayeri, Ali
Khan, Samir
Tehan, Ben
Weir, Malcolm
Wiggin, Giselle R.
Marshall, Fiona H.
TI Structure of class C GPCR metabotropic glutamate receptor 5
transmembrane domain
SO NATURE
LA English
DT Article
ID PROTEIN-COUPLED RECEPTORS; ALLOSTERIC MODULATORS; HEPTAHELICAL DOMAIN;
MEMBRANE-PROTEINS; CRYSTAL-STRUCTURE; BINDING POCKETS; CONFORMATION;
ACTIVATION; FAMILY; THERMOSTABILIZATION
AB Metabotropic glutamate receptors are class C G-protein-coupled receptors which respond to the neurotransmitter glutamate. Structural studies have been restricted to the amino-terminal extracellular domain, providing little understanding of the membrane-spanning signal transduction domain. Metabotropic glutamate receptor 5 is of considerable interest as a drug target in the treatment of fragile X syndrome, autism, depression, anxiety, addiction and movement disorders. Here we report the crystal structure of the transmembrane domain of the human receptor in complex with the negative allosteric modulator, mavoglurant. The structure provides detailed insight into the architecture of the transmembrane domain of class C receptors including the precise location of the allosteric binding site within the transmem-branedomain and key micro-switches which regulate receptor signalling. This structure also provides a model for all class CG-protein-coupled receptors and may aid in the design of new small-molecule drugs for the treatment of brain disorders.
C1 [Dore, Andrew S.; Okrasa, Krzysztof; Patel, Jayesh C.; Serrano-Vega, Maria; Bennett, Kirstie; Cooke, Robert M.; Errey, James C.; Jazayeri, Ali; Khan, Samir; Tehan, Ben; Weir, Malcolm; Wiggin, Giselle R.; Marshall, Fiona H.] Heptares Therapeut Ltd, Welwyn Garden City AL7 3AX, Herts, England.
RP Marshall, FH (reprint author), Heptares Therapeut Ltd, BioPk,Broadwater Rd, Welwyn Garden City AL7 3AX, Herts, England.
EM fiona.marshall@heptares.com
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NR 50
TC 32
Z9 33
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JUL 30
PY 2014
VL 511
IS 7511
BP 557
EP +
DI 10.1038/nature13396
PG 18
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM0VT
UT WOS:000339566300027
PM 25042998
ER
PT J
AU Pirooznia, M
Kramer, M
Parla, J
Goes, FS
Potash, JB
McCombie, WR
Zandi, PP
AF Pirooznia, Mehdi
Kramer, Melissa
Parla, Jennifer
Goes, Fernando S.
Potash, James B.
McCombie, W. Richard
Zandi, Peter P.
TI Validation and assessment of variant calling pipelines for
next-generation sequencing
SO HUMAN GENOMICS
LA English
DT Article
DE Variant calling pipelines; Next-generation sequencing; Exome sequencing
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; EXOME; TOOL; CANCER;
INDIVIDUALS; ASSOCIATION; CONCORDANCE; DISCOVERY; FRAMEWORK
AB Background: The processing and analysis of the large scale data generated by next-generation sequencing (NGS) experiments is challenging and is a burgeoning area of new methods development. Several new bioinformatics tools have been developed for calling sequence variants from NGS data. Here, we validate the variant calling of these tools and compare their relative accuracy to determine which data processing pipeline is optimal.
Results: We developed a unified pipeline for processing NGS data that encompasses four modules: mapping, filtering, realignment and recalibration, and variant calling. We processed 130 subjects from an ongoing whole exome sequencing study through this pipeline. To evaluate the accuracy of each module, we conducted a series of comparisons between the single nucleotide variant (SNV) calls from the NGS data and either gold-standard Sanger sequencing on a total of 700 variants or array genotyping data on a total of 9,935 single-nucleotide polymorphisms. A head to head comparison showed that Genome Analysis Toolkit (GATK) provided more accurate calls than SAMtools (positive predictive value of 92.55% vs. 80.35%, respectively). Realignment of mapped reads and recalibration of base quality scores before SNV calling proved to be crucial to accurate variant calling. GATK HaplotypeCaller algorithm for variant calling outperformed the UnifiedGenotype algorithm. We also showed a relationship between mapping quality, read depth and allele balance, and SNV call accuracy. However, if best practices are used in data processing, then additional filtering based on these metrics provides little gains and accuracies of >99% are achievable.
Conclusions: Our findings will help to determine the best approach for processing NGS data to confidently call variants for downstream analyses. To enable others to implement and replicate our results, all of our codes are freely available at http://metamoodics.org/wes.
C1 [Pirooznia, Mehdi; Goes, Fernando S.; Zandi, Peter P.] Johns Hopkins Univ, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Kramer, Melissa; Parla, Jennifer; McCombie, W. Richard] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Woodbury, NY 11797 USA.
[Potash, James B.] Univ Iowa, Sch Med, Carver Coll Med, Dept Psychiat, Iowa City, IA 52242 USA.
[McCombie, W. Richard] Cold Spring Harbor Lab, Watson Sch Biol Sci, Cold Spring Harbor, NY 11724 USA.
[Zandi, Peter P.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA.
RP Zandi, PP (reprint author), Johns Hopkins Univ, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
EM pzandi@jhsph.edu
FU NIH [R01MH087979, R01MH087992, K01MH093809]
FX This project is supported by the NIH funding from R01MH087979 (JBP),
R01MH087992 (WRM), and K01MH093809 (MP).
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Wei Z, 2011, NUCLEIC ACIDS RES, V39, DOI 10.1093/nar/gkr599
NR 38
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1473-9542
EI 1479-7364
J9 HUM GENOMICS
JI Hum. Genomics
PD JUL 30
PY 2014
VL 8
AR 14
DI 10.1186/1479-7364-8-14
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AN9YB
UT WOS:000340964300001
PM 25078893
ER
PT J
AU Lozano, R
Hagerman, RJ
Duyzend, M
Budimirovic, DB
Eichler, EE
Tassone, F
AF Lozano, Reymundo
Hagerman, Randi J.
Duyzend, Michael
Budimirovic, Dejan B.
Eichler, Evan E.
Tassone, Flora
TI Genomic studies in fragile X premutation carriers
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Premutation; FMR1 gene; Autism; Second hit; ASD; Neurodevelopmental
disorders; Neurological disorders
ID COPY NUMBER VARIATION; FMR1 MESSENGER-RNA; TREMOR/ATAXIA SYNDROME;
MENTAL-RETARDATION; MITOCHONDRIAL DYSFUNCTION; EXPANDED ALLELES; GENE;
AUTISM; DISORDERS; SPECTRUM
AB Background: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation.
Methods: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD.
Results: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD.
Conclusions: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement.
C1 [Lozano, Reymundo; Hagerman, Randi J.; Tassone, Flora] Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA.
[Lozano, Reymundo; Hagerman, Randi J.] Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA.
[Duyzend, Michael; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA.
[Budimirovic, Dejan B.] Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA.
[Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
[Tassone, Flora] Univ Calif Davis, Med Ctr, Dept Biochem & Mol Med, Sacramento, CA 95817 USA.
RP Lozano, R (reprint author), Univ Calif Davis, Med Ctr, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM reymundo.lozano@ucdmc.ucdavis.edu
RI Budimirovic, Dejan/O-7885-2014
OI Budimirovic, Dejan/0000-0001-7263-5134
FU National Institute of Child Health and Human Development (NICHD)
[HD02274, HD036071]
FX We would like to thank Gary Latham, Aia E Jonch, Andrea Schneider,
Melanie Rothfuss, Kirin Basuta and Cristina Lozano for useful
discussion. This work was supported by the National Institute of Child
Health and Human Development (NICHD) grants HD02274, and HD036071. This
work is dedicated to the memory of Matteo.
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NR 53
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD JUL 30
PY 2014
VL 6
AR 27
DI 10.1186/1866-1955-6-27
PG 8
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO2PF
UT WOS:000341166500001
PM 25170347
ER
PT J
AU Broek, JAC
Guest, PC
Rahmoune, H
Bahn, S
AF Broek, Jantine A. C.
Guest, Paul C.
Rahmoune, Hassan
Bahn, Sabine
TI Proteomic analysis of post mortem brain tissue from autism patients:
evidence for opposite changes in prefrontal cortex and cerebellum in
synaptic connectivity-related proteins
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Synaptic regulation; Molecular profiling; Post mortem brain;
Proteome; Selected reaction monitoring mass spectrometry
ID SPECTRUM DISORDERS; FUNCTIONAL CONNECTIVITY; RHESUS-MONKEY;
WHITE-MATTER; LABEL-FREE; CHILDREN; PROJECTIONS; MYELIN; QUANTIFICATION;
AUTOANTIBODIES
AB Background: Autism is a neurodevelopmental disorder characterized by impaired language, communication and social skills. Although genetic studies have been carried out in this field, none of the genes identified have led to an explanation of the underlying causes. Here, we have investigated molecular alterations by proteomic profiling of post mortem brain samples from autism patients and controls. The analysis focussed on prefrontal cortex and cerebellum as previous studies have found that these two brain regions are structurally and functionally connected, and they have been implicated in autism.
Methods: Post mortem prefrontal cortex and cerebellum samples from autism patients and matched controls were analysed using selected reaction monitoring mass spectrometry (SRM-MS). The main objective was to identify significantly altered proteins and biological pathways and to compare these across these two brain regions.
Results: Targeted SRM-MS resulted in identification of altered levels of proteins related to myelination, synaptic vesicle regulation and energy metabolism. This showed decreased levels of the immature astrocyte marker vimentin in both brain regions, suggesting a decrease in astrocyte precursor cells. Also, decreased levels of proteins associated with myelination and increased synaptic and energy-related proteins were found in the prefrontal cortex, indicative of increased synaptic connectivity. Finally, opposite directional changes were found for myelination and synaptic proteins in the cerebellum.
Conclusion: These findings suggest altered structural and/or functional connectivity in the prefrontal cortex and cerebellum in autism patients, as shown by opposite effects on proteins involved in myelination and synaptic function. Further investigation of these findings could help to increase our understanding of the mechanisms underlying autism relating to brain connectivity, with the ultimate aim of facilitating novel therapeutic approaches.
C1 [Broek, Jantine A. C.; Guest, Paul C.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge CB2 1QT, England.
[Bahn, Sabine] Erasmus MC, Dept Neurosci, NL-3015 GE Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Dept Chem Engn & Biotechnol, Tennis Court Rd, Cambridge CB2 1QT, England.
EM sb209@cam.ac.uk
FU Autism Speaks Grant [6009]; Dutch Fund for Economic Structure
Reinforcement (FES) [0908]
FX This work was funded by Autism Speaks Grant #6009 and the Dutch Fund for
Economic Structure Reinforcement (FES) under grant agreement number 0908
(NeuroBasic PharmaPhenomics project).
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NR 53
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 30
PY 2014
VL 5
AR 41
DI 10.1186/2040-2392-5-41
PG 8
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2MX
UT WOS:000341158700002
PM 25126406
ER
PT J
AU Vasu, MM
Anitha, A
Thanseem, I
Suzuki, K
Yamada, K
Takahashi, T
Wakuda, T
Iwata, K
Tsujii, M
Sugiyama, T
Mori, N
AF Vasu, Mahesh Mundalil
Anitha, Ayyappan
Thanseem, Ismail
Suzuki, Katsuaki
Yamada, Kohei
Takahashi, Taro
Wakuda, Tomoyasu
Iwata, Keiko
Tsujii, Masatsugu
Sugiyama, Toshirou
Mori, Norio
TI Serum microRNA profiles in children with autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; microRNA; complementary DNA; microarray;
quantitative PCR
ID LYMPHOBLASTOID CELL-LINES; SPECTRUM DISORDERS; EXPRESSION PROFILES;
SCHIZOPHRENIA; GENE; DISEASES; DYSREGULATION; INDIVIDUALS; CANCER;
CORTEX
AB Background: As regulators of gene expression, microRNAs (miRNAs) play a key role in the transcriptional networks of the developing human brain. Circulating miRNAs in the serum and plasma are remarkably stable and are suggested to have promise as noninvasive biomarkers for neurological and neurodevelopmental disorders. We examined the serum expression profiles of neurologically relevant miRNAs in autism spectrum disorder (ASD), a complex neurodevelopmental disorder characterized by multiple deficits in communication, social interaction and behavior.
Methods: Total RNA, including miRNA, was extracted from the serum samples of 55 individuals with ASD and 55 age-and sex-matched control subjects, and the mature miRNAs were selectively converted into cDNA. Initially, the expression of 125 mature miRNAs was compared between pooled control and ASD samples. The differential expression of 14 miRNAs was further validated by SYBR Green quantitative PCR of individual samples. Receiver-operating characteristic (ROC) analysis was used to evaluate the sensitivity and specificity of miRNAs. The target genes and pathways of miRNAs were predicted using DIANA mirPath software.
Results: Thirteen miRNAs were differentially expressed in ASD individuals compared to the controls. MiR-151a-3p, miR-181b-5p, miR-320a, miR-328, miR-433, miR-489, miR-572, and miR-663a were downregulated, while miR-101-3p, miR-106b-5p, miR-130a-3p, miR-195-5p, and miR-19b-3p were upregulated. Five miRNAs showed good predictive power for distinguishing individuals with ASD. The target genes of these miRNAs were enriched in several crucial neurological pathways.
Conclusions: This is the first study of serum miRNAs in ASD individuals. The results suggest that a set of serum miRNAs might serve as a possible noninvasive biomarker for ASD.
C1 [Vasu, Mahesh Mundalil; Thanseem, Ismail; Suzuki, Katsuaki; Takahashi, Taro; Wakuda, Tomoyasu; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
[Anitha, Ayyappan; Yamada, Kohei; Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
[Iwata, Keiko] Univ Fukui, Res Ctr Child Mental Dev, Fukui 9101193, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota 4700393, Japan.
[Sugiyama, Toshirou] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Higashi Ku, Hamamatsu, Shizuoka 4313192, Japan.
RP Suzuki, K (reprint author), Hamamatsu Univ Sch Med, Dept Psychiat, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan.
EM k-suzuki@hama-med.ac.jp
FU Takeda Science Foundation; Ministry of Education, Culture, Sports,
Science and Technology of Japan
FX We thank Mses. Mika Oyaizu and Tae Takahashi for their technical
assistance. This work was supported by the Takeda Science Foundation. It
was also supported in part by a Grant-in-Aid for 'Integrated Research on
Neuropsychiatric Disorders' carried out under the Strategic Research
Program for Brain Sciences from the Ministry of Education, Culture,
Sports, Science and Technology of Japan. None of these funding sources
played any role in the design and conduct of the study; the collection,
management, analysis, and interpretation of the data; or the
preparation, review, or approval of the manuscript.
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NR 36
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 30
PY 2014
VL 5
AR 40
DI 10.1186/2040-2392-5-40
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO2MX
UT WOS:000341158700001
ER
PT J
AU Chang, YS
Owen, JP
Desai, SS
Hill, SS
Arnett, AB
Harris, J
Marco, EJ
Mukherjee, P
AF Chang, Yi-Shin
Owen, Julia P.
Desai, Shivani S.
Hill, Susanna S.
Arnett, Anne B.
Harris, Julia
Marco, Elysa J.
Mukherjee, Pratik
TI Autism and Sensory Processing Disorders: Shared White Matter Disruption
in Sensory Pathways but Divergent Connectivity in Social-Emotional
Pathways
SO PLOS ONE
LA English
DT Article
ID INFERIOR LONGITUDINAL FASCICULUS; TENSOR IMAGING TRACTOGRAPHY; SPECTRUM
DISORDER; FUNCTIONAL CONNECTIVITY; HIPPOCAMPO-FUSIFORM;
AMYGDALO-FUSIFORM; CORPUS-CALLOSUM; CHILDREN; SYSTEM; FMRI
AB Over 90% of children with Autism Spectrum Disorders (ASD) demonstrate atypical sensory behaviors. In fact, hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment is now included in the DSM-5 diagnostic criteria. However, there are children with sensory processing differences who do not meet an ASD diagnosis but do show atypical sensory behaviors to the same or greater degree as ASD children. We previously demonstrated that children with Sensory Processing Disorders (SPD) have impaired white matter microstructure, and that this white matter microstructural pathology correlates with atypical sensory behavior. In this study, we use diffusion tensor imaging (DTI) fiber tractography to evaluate the structural connectivity of specific white matter tracts in boys with ASD (n = 15) and boys with SPD (n = 16), relative to typically developing children (n = 23). We define white matter tracts using probabilistic streamline tractography and assess the strength of tract connectivity using mean fractional anisotropy. Both the SPD and ASD cohorts demonstrate decreased connectivity relative to controls in parieto-occipital tracts involved in sensory perception and multisensory integration. However, the ASD group alone shows impaired connectivity, relative to controls, in temporal tracts thought to subserve social-emotional processing. In addition to these group difference analyses, we take a dimensional approach to assessing the relationship between white matter connectivity and participant function. These correlational analyses reveal significant associations of white matter connectivity with auditory processing, working memory, social skills, and inattention across our three study groups. These findings help elucidate the roles of specific neural circuits in neurodevelopmental disorders, and begin to explore the dimensional relationship between critical cognitive functions and structural connectivity across affected and unaffected children.
C1 [Chang, Yi-Shin; Owen, Julia P.; Mukherjee, Pratik] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA.
[Desai, Shivani S.; Hill, Susanna S.; Arnett, Anne B.; Harris, Julia; Marco, Elysa J.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94115 USA.
RP Marco, EJ (reprint author), Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94115 USA.
EM marcoe@neuropeds.ucsf.edu
FU Wallace Research Foundation; Gates Family Foundation; Holcombe Kawaja
Family Foundation; Simons Foundation; NIH [R01 NS060776, K23 MH083890,
KL2 RR024130]
FX This work was funded by grants from the Wallace Research Foundation, the
Gates Family Foundation and the Holcombe Kawaja Family Foundation. EJM,
JPO and PM acknowledge support from the Simons Foundation. PM also
acknowledges support from NIH R01 NS060776. EJM has received support
from NIH K23 MH083890 and KL2 RR024130. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 47
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 30
PY 2014
VL 9
IS 7
AR e103038
DI 10.1371/journal.pone.0103038
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM7EZ
UT WOS:000340028800023
PM 25075609
ER
PT J
AU Rabaneda, LG
Robles-Lanuza, E
Nieto-Gonzalez, JL
Scholl, FG
AF Rabaneda, Luis G.
Robles-Lanuza, Estefania
Nieto-Gonzalez, Jose Luis
Scholl, Francisco G.
TI Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior
in Mice
SO CELL REPORTS
LA English
DT Article
ID SYNAPTIC VESICLE EXOCYTOSIS; MENTAL-RETARDATION; ALPHA-NEUREXINS;
BETA-NEUREXINS; CELL-ADHESION; MUTATIONS; SYNAPSES; SPECTRUM; GENE;
NEUROLIGIN-1
AB Autism spectrum disorders (ASDs) comprise a group of clinical phenotypes characterized by repetitive behavior and social and communication deficits. Autism is generally viewed as a neurodevelopmental disorder where insults during embryonic or early postnatal periods result in aberrant wiring and function of neuronal circuits. Neurexins are synaptic proteins associated with autism. Here, we generated transgenic beta Nrx1 Delta C mice in which neurexin function is selectively impaired during late postnatal stages. Whole-cell recordings in cortical neurons show an impairment of glutamatergic synaptic transmission in the beta Nrx1 Delta C mice. Importantly, mutant mice exhibit autism-related symptoms, such as increased self-grooming, deficits in social interactions, and altered interaction for nonsocial olfactory cues. The autistic-like phenotype of beta Nrx1 Delta C mice can be reversed after removing the mutant protein in aged animals. The defects resulting from disruption of neurexin function after the completion of embryonic and early postnatal development suggest that functional impairment of mature circuits can trigger autism-related phenotypes.
C1 [Rabaneda, Luis G.; Robles-Lanuza, Estefania; Nieto-Gonzalez, Jose Luis; Scholl, Francisco G.] Univ Seville, CSIC, Hosp Univ Virgen Rocio, Inst Biomed Sevilla IBiS, Seville 41013, Spain.
[Rabaneda, Luis G.; Robles-Lanuza, Estefania; Nieto-Gonzalez, Jose Luis; Scholl, Francisco G.] Univ Seville, Dept Fisiol Med & Biofis, Seville 41013, Spain.
[Nieto-Gonzalez, Jose Luis] Ctr Invest Biomed Red Enfermedade Meurodegenerat, Seville 41013, Spain.
RP Scholl, FG (reprint author), Univ Seville, CSIC, Hosp Univ Virgen Rocio, Inst Biomed Sevilla IBiS, Ave Manuel Siurot S-N, Seville 41013, Spain.
EM fgs@us.es
RI Nieto-Gonzalez, Jose/B-7165-2013
OI Nieto-Gonzalez, Jose/0000-0003-1757-4951
FU NEURONERANET (EUHF-AUTISM) [PIM2010ERN-0070]; Instituto de Salud Carlos
III [PI111058]; Junta de Andalucia [P11-CVI-7599]; V Plan Propio de
Investigacion (Universidad de Sevilla); Juan de la Cierva MINECO
contract
FX Research at the F.G.S. lab was funded by grants from NEURONERANET
(EUHF-AUTISM, PIM2010ERN-0070), Instituto de Salud Carlos III
(PI111058), and Junta de Andalucia (P11-CVI-7599). We thank Dr. Leon
Lagnado (University of Sussex) for the generous gift of the sypHy
construct, Dr. Oscar Pintado for pronuclear injection, Dr. Angel Barco
for helpful advice with bitransgenic mice, and Dr. Maria Luz Montesinos
and Itziar Benito for assistance with some behavioral tests. Technical
assistance during the generation of transgenic mice was provided by
Maria Luisa Pecero. The authors wish to thank Drs. Rafael
Fernandez-Chacon and Amalia Martinez-Mir for support and critical
reading of the manuscript. E. R-L received a fellowship from V Plan
Propio de Investigacion (Universidad de Sevilla), and J.L.N.-G is a
recipient of a Juan de la Cierva MINECO contract. Part of the study was
performed at CITIUS (Universidad de Sevilla).
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NR 46
TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD JUL 24
PY 2014
VL 8
IS 2
BP 337
EP 345
DI 10.1016/j.celrep.2014.06.022
PG 9
WC Cell Biology
SC Cell Biology
GA AO7YT
UT WOS:000341569800003
PM 25017069
ER
PT J
AU Pandya, CD
Pillai, A
AF Pandya, Chirayu D.
Pillai, Anilkumar
TI TrkB interacts with ErbB4 and regulates NRG1-induced NR2B
phosphorylation in cortical neurons before synaptogenesis
SO CELL COMMUNICATION AND SIGNALING
LA English
DT Article
DE NRG1; BDNF; TrkB; Neurons; Synapse; NR2B
ID RAT VISUAL-CORTEX; NMDA RECEPTOR; NEUROTROPHIC FACTOR; PREFRONTAL
CORTEX; SCHIZOPHRENIA; BRAIN; BDNF; EXPRESSION; NEUREGULIN-1; CELLS
AB Background: Neuregulin 1 (NRG1) and NMDARs play important roles in various neuronal functions including neural development. NMDARs also promote many cellular events such as proliferation and survival of neuroblasts before synapse formation. Although many recent studies have indicated that NRG1 regulates NMDAR function in cortical neurons, the effect of NRG1 on NMDAR activation before synapse formation is not well studied.
Results: NRG1 induces activation of NMDAR subunit NR2B, and tropomyosin- related kinase receptor B (TrkB), the receptor for BDNF via activation of phospholipase C-gamma (PLC-gamma) in immature primary cortical neurons. Our data using TrkB inhibitor (K252a), TrkB siRNA and TrkB-/- neurons demonstrated that TrkB inhibition suppresses NRG1-induced NR2B activation in neurons. We found that NRG1 stimulation leads to GABA(A) receptor-mediated TrkB activation. Co-immunoprecipitation and proximity ligase assay showed that TrkB interacts with ErbB4 (NRG1 receptor) and the TrkB-ErbB4 interaction was increased following NRG1 treatment. A significant reduction in TrkB-ErbB4 interaction was observed in the prefrontal cortex of schizophrenia subjects. We found significant increase in released BDNF levels following NRG1 treatment, which was inhibited by ErbB4 inhibitor, AG1478. In addition, pretreatment with BDNF neutralizing antibody, but not control IgG abolished NRG1- induced increases in phospho-TrkB and phospho-NR2B levels. Moreover, studies using TrkB mutants showed that intercellular domain of TrkB is necessary for TrkB-ErbB4 interaction and NR2B activation.
Conclusions: BDNF/TrkB signaling plays an important role in the NRG1- stimulated NR2B regulation. These findings could be of relevance to many neurodevelopmental disorders, as NRG1 and BDNF signaling pathways have been implicated in autism and schizophrenia.
C1 [Pandya, Chirayu D.; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30901 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30901 USA.
EM apillai@gru.edu
FU NINDS/NIH; National Multiple Sclerosis Society; Department of Veteran
Affairs
FX We thank Dr. Chao (New York University School of Medicine, New York) for
the phospho-TrkB antibody and Dr. Maruyama (Okinawa Institute of Science
and Technology, Japan) for the TrkB constructs. The authors are thankful
to Dr. Rohrer (Medical University of South Carolina, SC) for the TrkB
knockout mice. The authors would also like to acknowledge the Human
Brain and Spinal Fluid Resource Center, VA West Los Angeles Healthcare
Center, 11301 Wilshire Blvd. Los Angeles, CA 90073 which is supported by
NINDS/NIH, National Multiple Sclerosis Society, and Department of
Veteran Affairs.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1478-811X
J9 CELL COMMUN SIGNAL
JI Cell Commun. Signal.
PD JUL 24
PY 2014
VL 12
AR 47
DI 10.1186/s12964-014-0047-9
PG 11
WC Cell Biology
SC Cell Biology
GA AM4RW
UT WOS:000339844000001
PM 25052836
ER
PT J
AU Zhao, H
Kim, Y
Park, J
Park, D
Lee, SE
Chang, I
Chang, S
AF Zhao, Haiyan
Kim, Yoonju
Park, Joohyun
Park, Daehun
Lee, Sang-Eun
Chang, Iree
Chang, Sunghoe
TI SCAMP5 Plays a Critical Role in Synaptic Vesicle Endocytosis during High
Neuronal Activity
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE neuronal activity; recycling pool; resting pool; SCAMP5; synaptic
vesicle endocytosis
ID CARRIER MEMBRANE-PROTEIN; HIPPOCAMPAL SYNAPSES; PC12 CELLS; EXOCYTOSIS;
SYNAPTOPHYSIN; POOL; KINETICS; RELEASE; NEUROTRANSMISSION; TRAFFICKING
AB Secretory carrier membrane protein 5 (SCAMP5), a recently identified candidate gene for autism, is brain specific and highly abundant in synaptic vesicles (SVs), but its function is currently unknown. Here, we found that knockdown (KD) of endogenous SCAMP5 by SCAMP5-specific shRNAs in cultured rat hippocampal neurons resulted in a reduction in total vesicle pool size as well as in recycling pool size, but the recycling/resting pool ratio was significantly increased. SCAMP5 KD slowed endocytosis after stimulation, but impaired it severely during strong stimulation. We also found that KD dramatically lowered the threshold of activity at which SV endocytosis became unable to compensate for the ongoing exocytosis occurring during a stimulus. Reintroducing shRNA-resistant SCAMP5 reversed these endocytic defects. Therefore, our results suggest that SCAMP5 functions during high neuronal activity when a heavy load is imposed on endocytosis. Our data also raise the possibility that the reduction in expression of SCAMP5 in autistic patients may be related to the synaptic dysfunction observed in autism.
C1 [Zhao, Haiyan; Kim, Yoonju; Park, Joohyun; Park, Daehun; Lee, Sang-Eun; Chang, Iree; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Dept Physiol & Biomed Sci, Seoul 110799, South Korea.
[Zhao, Haiyan; Kim, Yoonju; Park, Joohyun; Park, Daehun; Lee, Sang-Eun; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Biomembrane Plast Res Ctr, Seoul 110799, South Korea.
[Kim, Yoonju; Park, Joohyun; Chang, Sunghoe] Seoul Natl Univ, Coll Med, Neurosci Res Inst, Med Res Ctr, Seoul 110799, South Korea.
[Chang, Sunghoe] Seoul Natl Univ, Coll Med, Biomax Inst, Seoul 110799, South Korea.
RP Chang, S (reprint author), Seoul Natl Univ, Coll Med, Dept Physiol, 309 Biomed Sci Bldg,28 Yeongeon Dong, Seoul 110799, South Korea.
EM sunghoe@snu.ac.kr
FU Biomembrane Plasticity Research Center - National Research Foundation of
Korea [20100029395]
FX This work was supported by the Biomembrane Plasticity Research Center
funded by the National Research Foundation of Korea (Grant 20100029395
to S.C.).
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NR 41
TC 1
Z9 1
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD JUL 23
PY 2014
VL 34
IS 30
BP 10085
EP 10095
DI 10.1523/JNEUROSCI.2156-14.2014
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AO0LV
UT WOS:000341001600025
PM 25057210
ER
PT J
AU Matsuzaki, J
Kagitani-Shimono, K
Sugata, H
Hirata, M
Hanaie, R
Nagatani, F
Tachibana, M
Tominaga, K
Mohri, I
Taniike, M
AF Matsuzaki, Junko
Kagitani-Shimono, Kuriko
Sugata, Hisato
Hirata, Masayuki
Hanaie, Ryuzo
Nagatani, Fumiyo
Tachibana, Masaya
Tominaga, Koji
Mohri, Ikuko
Taniike, Masako
TI Progressively Increased M50 Responses to Repeated Sounds in Autism
Spectrum Disorder with Auditory Hypersensitivity: A
Magnetoencephalographic Study
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; STARTLE CIRCUIT; MEG; SCHIZOPHRENIA; CHILDREN;
LATERALIZATION; EXCITABILITY; TRANSPORTER; DYSFUNCTION; SEROTONIN
AB The aim of this study was to investigate the differential time-course responses of the auditory cortex to repeated auditory stimuli in children with autism spectrum disorder (ASD) showing auditory hypersensitivity. Auditory-evoked field values were obtained from 21 boys with ASD (12 with and 9 without auditory hypersensitivity) and 15 age-matched typically developing controls. M50 dipole moments were significantly increased during the time-course study only in the ASD with auditory hypersensitivity compared with those for the other two groups. The boys having ASD with auditory hypersensitivity also showed more prolonged response duration than those in the other two groups. The response duration was significantly related to the severity of auditory hypersensitivity. We propose that auditory hypersensitivity is associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons.
C1 [Matsuzaki, Junko; Nagatani, Fumiyo; Tachibana, Masaya; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Mol Res Ctr Childrens Mental Dev, Osaka, Japan.
[Kagitani-Shimono, Kuriko; Hanaie, Ryuzo; Tachibana, Masaya; Tominaga, Koji; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Osaka, Japan.
[Kagitani-Shimono, Kuriko; Tachibana, Masaya; Tominaga, Koji; Mohri, Ikuko; Taniike, Masako] Osaka Univ, Grad Sch Med, Dept Pediat, Osaka, Japan.
[Sugata, Hisato; Hirata, Masayuki] Osaka Univ, Grad Sch Med, Dept Neurosurg, Osaka, Japan.
RP Kagitani-Shimono, K (reprint author), Osaka Univ, Grad Sch Med, United Grad Sch Child Dev, Osaka, Japan.
EM kuriko@ped.med.osaka-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT)
[23591494]
FX This study was supported by a grant-in-aid for scientific research (No.
23591494) from Ministry of Education, Culture, Sports, Science and
Technology (MEXT). The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 31
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 23
PY 2014
VL 9
IS 7
AR e102599
DI 10.1371/journal.pone.0102599
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1NT
UT WOS:000339614100042
PM 25054201
ER
PT J
AU O'Brien, J
Spencer, J
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Hill, H
AF O'Brien, Justin
Spencer, Janine
Girges, Christine
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Hill, Harold
TI Impaired Perception of Facial Motion in Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID TYPICALLY DEVELOPING-CHILDREN; SUPERIOR TEMPORAL SULCUS; BIOLOGICAL
MOTION; VISUAL-MOTION; UNFAMILIAR FACES; DYNAMIC CHANGES; MOVING FACES;
RECOGNITION; INVERSION; IDENTITY
AB Facial motion is a special type of biological motion that transmits cues for socio-emotional communication and enables the discrimination of properties such as gender and identity. We used animated average faces to examine the ability of adults with autism spectrum disorders (ASD) to perceive facial motion. Participants completed increasingly difficult tasks involving the discrimination of (1) sequences of facial motion, (2) the identity of individuals based on their facial motion and (3) the gender of individuals. Stimuli were presented in both upright and upside-down orientations to test for the difference in inversion effects often found when comparing ASD with controls in face perception. The ASD group's performance was impaired relative to the control group in all three tasks and unlike the control group, the individuals with ASD failed to show an inversion effect. These results point to a deficit in facial biological motion processing in people with autism, which we suggest is linked to deficits in lower level motion processing we have previously reported.
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[Johnston, Alan] UCL, London, England.
[Hill, Harold] Univ Wollongong, Sch Psychol, Wollongong, NSW, Australia.
RP Spencer, J (reprint author), Brunel Univ, Dept Psychol, Ctr Res Infant Behav, Uxbridge UB8 3PH, Middx, England.
EM janine.spencer@brunel.ac.uk
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NR 55
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 23
PY 2014
VL 9
IS 7
AR e102173
DI 10.1371/journal.pone.0102173
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1NT
UT WOS:000339614100033
PM 25054288
ER
PT J
AU Iijima, K
Ota, K
AF Iijima, Kazuki
Ota, Koji
TI How (not) to draw philosophical implications from the cognitive nature
of concepts: the case of intentionality
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE experimental philosophy; normativism; descriptivism; Knobe effect;
intentionality; theory of mind
ID MORAL RESPONSIBILITY; ORDINARY LANGUAGE; FOLK INTUITIONS; AUTISM;
JUDGMENT; MIND
AB Philosophers have often appealed to intuitive judgments in various thought experiments to support or reject particular theses. Experimental philosophy is an emerging discipline that examines the cognitive nature of such intuitive judgments. In this paper, we assess the methodological and epistemological status of experimental philosophy. We focus on the Knobe effect, in which our intuitive judgment of the intentionality of an action seems to depend on the perceived moral status of that action. The debate on the philosophical implications of the Knobe effect has been framed in terms of the distinction between the competence and performance of the concept of intentionality. Some scholars seem to suggest that the Knobe effect reflects the competence (or otherwise, the performance error) of the concept of intentionality. However, we argue that these notions are purely functional and thus do not have philosophical implications, without assuming normativism, which we see as problematic in a psychological methodology. Finally, focusing on the gap between competence and rationality, we suggest future directions for experimental philosophy.
C1 [Iijima, Kazuki] Tamagawa Univ, Brain Sci Inst, Machida, Tokyo 1948610, Japan.
[Iijima, Kazuki] Japan Soc Promot Sci, Tokyo, Japan.
[Ota, Koji] Univ Tokyo, Grad Sch Arts Sci, Dept Basic Sci, Tokyo, Japan.
RP Iijima, K (reprint author), Tamagawa Univ, Brain Sci Inst, 6-1-1 Tamagawa Gakuen, Machida, Tokyo 1948610, Japan.
EM iijima.kazuki@14.alumni.u-tokyo.ac.jp
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NR 44
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD JUL 22
PY 2014
VL 5
AR 799
DI 10.3389/fpsyg.2014.00799
PG 5
WC Psychology, Multidisciplinary
SC Psychology
GA AL8NO
UT WOS:000339396200001
PM 25101045
ER
PT J
AU Albertini, B
Di Sabatino, M
Melegari, C
Passerini, N
AF Albertini, Beatrice
Di Sabatino, Marcello
Melegari, Cecilia
Passerini, Nadia
TI Formulating SLMs as oral pulsatile system for potential delivery of
melatonin to pediatric population
SO INTERNATIONAL JOURNAL OF PHARMACEUTICS
LA English
DT Article
DE Melatonin; Solid-lipid microparticles; Spray congealing; Oral pediatric
formulation; Dose flexibility; Stability in food
ID CONTROLLED-RELEASE MELATONIN; CHILDREN; SLEEP; DISORDERS; AUTISM;
MEDICINES; ATOMIZER; ENHANCE
AB The formulation development of melatonin (MLT) for infants and children with neurodevelopmental difficulties was fully investigated. This population have a higher prevalence of sleep disorders and present special challenges for drug administration and swallowing. To solve these issues, solid lipid microparticles (SLMs) were designed to obtain an oral flexible dosage form constituted by GRAS excipients and a free flow pulsatile delivery system for MLT, able to maintain its release through 8 h. Three groups of SLMs were produced by spray congealing and characterized as regards particle size, morphology, flowability, solid state, drug content and release behavior. The SLMs manipulation with milk and yogurt and the MLT stability in these foods were also investigated. Microparticles with different excipient composition were selected to obtain a pulsatile release pattern over 8 h. The final delivery platform displayed a prompt release from group I SLMs together with a lag phase of groups II and III SLMs, followed by a repeated MLT release from group II and a prolonged MLT release related to the last group. Finally, MLT was compatible and stable in milk and yogurt suggesting that microparticles sprinkled into food is acceptable for MLT administration to children unable to swallow capsules or tablets. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Albertini, Beatrice; Di Sabatino, Marcello; Melegari, Cecilia; Passerini, Nadia] Univ Bologna, Dept Pharm & Biotechnol, I-40127 Bologna, Italy.
RP Albertini, B (reprint author), Univ Bologna, Dept Pharm & Biotechnol, Via San Donato 19-2, I-40127 Bologna, Italy.
EM beatrice.albertini@unibo.it
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World Health Organization (WHO), 2007, PREV CARD DIS GUID A, P1
NR 34
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-5173
EI 1873-3476
J9 INT J PHARMACEUT
JI Int. J. Pharm.
PD JUL 20
PY 2014
VL 469
IS 1
BP 67
EP 79
DI 10.1016/j.ijpharm.2014.04.055
PG 13
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AH9TZ
UT WOS:000336487500009
PM 24768728
ER
PT J
AU Fan, YT
Cheng, YW
AF Fan, Yang-Teng
Cheng, Yawei
TI Atypical Mismatch Negativity in Response to Emotional Voices in People
with Autism Spectrum Conditions
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; ASPERGER-SYNDROME; FUNCTIONING AUTISM; BRAIN
POTENTIALS; CHILDREN; SPEECH; PERCEPTION; ATTENTION; DISCRIMINATION;
DISORDER
AB Autism Spectrum Conditions (ASC) are characterized by heterogeneous impairments of social reciprocity and sensory processing. Voices, similar to faces, convey socially relevant information. Whether voice processing is selectively impaired remains undetermined. This study involved recording mismatch negativity (MMN) while presenting emotionally spoken syllables dada and acoustically matched nonvocal sounds to 20 subjects with ASC and 20 healthy matched controls. The people with ASC exhibited no MMN response to emotional syllables and reduced MMN to nonvocal sounds, indicating general impairments of affective voice and acoustic discrimination. Weaker angry MMN amplitudes were associated with more autistic traits. Receiver operator characteristic analysis revealed that angry MMN amplitudes yielded a value of 0.88 (p<.001). The results suggest that people with ASC may process emotional voices in an atypical fashion already at the automatic stage. This processing abnormality can facilitate diagnosing ASC and enable social deficits in people with ASC to be predicted.
C1 [Fan, Yang-Teng; Cheng, Yawei] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Fan, Yang-Teng; Cheng, Yawei] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Cheng, Yawei] Natl Yang Ming Univ Hosp, Dept Rehabil, Yilan, Taiwan.
[Cheng, Yawei] Taipei City Hosp, Dept Res & Educ, Taipei, Taiwan.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU Ministry of Science and Technology [MOST 103-2401-H-010-003-MY3];
National Yang-Ming University Hospital [RD2014-003]; Health Department
of Taipei City Government [10301-62-009]; Ministry of Education (Aim for
the Top University Plan)
FX The study was funded by the Ministry of Science and Technology (MOST
103-2401-H-010-003-MY3), National Yang-Ming University Hospital
(RD2014-003), Health Department of Taipei City Government
(10301-62-009), and Ministry of Education (Aim for the Top University
Plan). The funders had no role in the study design, data collection and
analyses, decision to publish, or preparation of the manuscript.
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NR 67
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 18
PY 2014
VL 9
IS 7
AR e102471
DI 10.1371/journal.pone.0102471
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1OC
UT WOS:000339615200061
PM 25036143
ER
PT J
AU Michelas, A
Faget, C
Portes, C
Lienhart, AS
Boyer, L
Lancon, C
Champagne-Lavau, M
AF Michelas, Amandine
Faget, Catherine
Portes, Cristel
Lienhart, Anne-Sophie
Boyer, Laurent
Lancon, Christophe
Champagne-Lavau, Maud
TI Do patients with schizophrenia use prosody to encode contrastive
discourse status?
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE prosodic phrasing; contrastive discourse status; theory of mind; social
interaction; attribution of knowledge; schizophrenia; French
ID SOCIAL COGNITION; MIND DEFICITS; PEOPLE; POOR; METAANALYSIS;
RECOGNITION; ATTRIBUTION; PERCEPTION; LANGUAGE; AUTISM
AB Patients with schizophrenia (SZ) often display social cognition disorders, including Theory of Mind (ToM) impairments and communication disruptions. Thought language disorders appear to be primarily a disruption of pragmatics, SZ can also experience difficulties at other linguistic levels including the prosodic one. Here, using an interactive paradigm, we showed that SZ individuals did not use prosodic phrasing to encode the contrastive status of discourse referents in French. We used a semi-spontaneous task to elicit noun-adjective pairs in which the noun in the second noun-adjective fragment was identical to the noun in the first fragment (e.g., BONBONS marron "brown candies" vs. BONBONS violets "purple candies") or could contrast with it (e.g., BOUGIES violettes "purple candles" vs. BONBONS violets "purple candies"). We found that healthy controls parsed the target noun in the second noun-adjective fragment separately from the color adjective, to warn their interlocutor that this noun constituted a contrastive entity (e.g., BOUGIES violettes followed by [BONBONS] [violets]) compared to when it referred to the same object as in the first fragment (e.g., BONBONS marron followed by [BONBONS violets]). On the contrary, SZ individuals did not use prosodic phrasing to encode contrastive status of target nouns. In addition, SZ's difficulties to use prosody of contrast were correlated to their score in a classical ToM task (i.e., the hinting task). Taken together, our data provide evidence that SZ patients exhibit difficulties to prosodically encode discourse statuses and sketch a potential relationship between ToM and the use of linguistic prosody.
C1 [Michelas, Amandine; Portes, Cristel; Lienhart, Anne-Sophie; Champagne-Lavau, Maud] Aix Marseille Univ, CNRS, UMR 7309, LPL, Aix En Provence, France.
[Faget, Catherine; Boyer, Laurent; Lancon, Christophe] Aix Marseille Univ, EA Publ Hlth 3279, Chron Dis & Qual Life Res Unit, Marseille, France.
[Faget, Catherine; Boyer, Laurent; Lancon, Christophe] St Marguerite Univ Hosp, Dept Psychiat, Marseille, France.
RP Michelas, A (reprint author), Lab Parole & Langage, 5 Ave Pasteur,BP 80975, F-13100 Aix En Provence, France.
EM michelas@lpl-aix.fr
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NR 66
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD JUL 18
PY 2014
VL 5
AR 755
DI 10.3389/fpsyg.2014.00755
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA AL4QY
UT WOS:000339118800001
PM 25101025
ER
PT J
AU Bernier, R
Golzio, C
Xiong, B
Stessman, HA
Coe, BP
Penn, O
Witherspoon, K
Gerdts, J
Baker, C
Vulto-van Silfhout, AT
Schuurs-Hoeijmakers, JH
Fichera, M
Bosco, P
Buono, S
Alberti, A
Failla, P
Peeters, H
Steyaert, J
Vissers, LELM
Francescatto, L
Mefford, HC
Rosenfeld, JA
Bakken, T
O'Roak, BJ
Pawlus, M
Moon, R
Shendure, J
Amaral, DG
Lein, E
Rankin, J
Romano, C
de Vries, BBA
Katsanis, N
Eichler, EE
AF Bernier, Raphael
Golzio, Christelle
Xiong, Bo
Stessman, Holly A.
Coe, Bradley P.
Penn, Osnat
Witherspoon, Kali
Gerdts, Jennifer
Baker, Carl
Vulto-van Silfhout, Anneke T.
Schuurs-Hoeijmakers, Janneke H.
Fichera, Marco
Bosco, Paolo
Buono, Serafino
Alberti, Antonino
Failla, Pinella
Peeters, Hilde
Steyaert, Jean
Vissers, Lisenka E. L. M.
Francescatto, Ludmila
Mefford, Heather C.
Rosenfeld, Jill A.
Bakken, Trygve
O'Roak, Brian J.
Pawlus, Matthew
Moon, Randall
Shendure, Jay
Amaral, David G.
Lein, Ed
Rankin, Julia
Romano, Corrado
de Vries, Bert B. A.
Katsanis, Nicholas
Eichler, Evan E.
TI Disruptive CHD8 Mutations Define a Subtype of Autism Early in
Development
SO CELL
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; CHARGE-SYNDROME; HEART-DISEASE;
GENE; ZEBRAFISH; ABNORMALITIES; ASSOCIATION; EXPRESSION; CHILDREN
AB Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD. We identified a total of 15 independent mutations; no truncating events were identified in 8,792 controls, including 2,289 unaffected siblings. In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates features of the human phenotype, including increased head size as a result of expansion of the forebrain/midbrain and impairment of gastrointestinal motility due to a reduction in postmitotic enteric neurons. Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
C1 [Bernier, Raphael; Gerdts, Jennifer] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Golzio, Christelle; Francescatto, Ludmila; Katsanis, Nicholas] Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Xiong, Bo; Coe, Bradley P.; Penn, Osnat; Witherspoon, Kali; Baker, Carl; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[Vulto-van Silfhout, Anneke T.; Schuurs-Hoeijmakers, Janneke H.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands.
[Fichera, Marco; Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Failla, Pinella; Romano, Corrado] IRCCS Associaz Oasi Maria Santissima, I-94018 Troina, Italy.
[Fichera, Marco] Univ Catania, I-95123 Catania, Italy.
[Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Peeters, Hilde; Steyaert, Jean] Leuven Autism Res LAuRes, B-3000 Leuven, Belgium.
[Steyaert, Jean] Katholieke Univ Leuven, Dept Child & Adolescent Psychiat, B-3000 Leuven, Belgium.
[Steyaert, Jean] Maastricht Univ, Acad Hosp Maastricht, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands.
[Steyaert, Jean] Maastricht Univ, Res Inst Growth & Dev GROW, NL-6200 MD Maastricht, Netherlands.
[Mefford, Heather C.] Univ Washington, Dept Pediat, Seattle, WA 98195 USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA 99207 USA.
[Bakken, Trygve] Allen Inst Brain Sci, Seattle, WA 98103 USA.
[O'Roak, Brian J.] OHSU, Portland, OR 97208 USA.
[Pawlus, Matthew; Moon, Randall] Univ Washington, Dept Pharmacol, Seattle, WA 98109 USA.
[Amaral, David G.] Univ Calif Davis, MIND Inst, Autism Phenome Project, Sacramento, CA 95817 USA.
[Rankin, Julia] Peninsula Clin Genet Serv, Exeter EX1 2ED, Devon, England.
[Eichler, Evan E.] Howard Hughes Med Inst, Seattle, WA 98195 USA.
RP Eichler, EE (reprint author), Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
EM eee@gs.washington.edu
RI Romano, Corrado/B-9695-2008; Xiong, Bo/M-3605-2014; Vissers,
Lisenka/A-2598-2015
OI Romano, Corrado/0000-0003-1049-0683;
FU Simons Foundation Autism Research Initiative (SFARI) [303241]; NIH/NIMH
[R01MH101221]; SFARI [239983]; NIH [P50MH094268]; NARSAD Young
Investigator Grant from BBRF; European Commission; GENCODYS [241995];
Dutch Organisation for Health Research and Development (ZON-MW)
[917-86-319, 912-12-109]
FX This work was supported by the Simons Foundation Autism Research
Initiative (SFARI) 303241 and NIH/NIMH R01MH101221 to E.E.E.; by SFARI
239983 and NIH P50MH094268 to N.K.; by a NARSAD Young Investigator Grant
from BBRF to C.G.; and by the European Commission: GENCODYS grant 241995
under FP7 and the Dutch Organisation for Health Research and Development
(ZON-MW grants 917-86-319 and 912-12-109) to B.B.A.d.V. E.E.E. is an
Investigator of the Howard Hughes Medical Institute and is on the
scientific advisory board for DNAnexus, Inc. N.K. is a Distinguished
Brumley Professor. We thank all of the families at the participating
Simons Simplex Collection (SSC) sites, as well as the principal
investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E.
Fombonne, D. Geschwind, E. Hanson, D. Grice, A. Klin, R. Kochel, D.
Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley,
K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J.
Sutcliffe, C. Walsh, Z. Warren, and E. Wijsman). We are grateful to D.
Raible and H. S. Zimmermann for providing zebrafish resources and for
helpful discussions, to T. Brown for help with manuscript preparation,
and to J. Huddleston and M. Malig for sequencing support.
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NR 43
TC 21
Z9 21
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD JUL 17
PY 2014
VL 158
IS 2
BP 263
EP 276
DI 10.1016/j.cell.2014.06.017
PG 14
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN9QU
UT WOS:000340943600008
PM 24998929
ER
PT J
AU Gilissen, C
Hehir-Kwa, JY
Thung, DT
van de Vorst, M
van Bon, BWM
Willemsen, MH
Kwint, M
Janssen, IM
Hoischen, A
Schenck, A
Leach, R
Klein, R
Tearle, R
Bo, T
Pfundt, R
Yntema, HG
de Vries, BBA
Kleefstra, T
Brunner, HG
Vissers, LELM
Veltman, JA
AF Gilissen, Christian
Hehir-Kwa, Jayne Y.
Thung, Djie Tjwan
van de Vorst, Maartje
van Bon, Bregje W. M.
Willemsen, Marjolein H.
Kwint, Michael
Janssen, Irene M.
Hoischen, Alexander
Schenck, Annette
Leach, Richard
Klein, Robert
Tearle, Rick
Bo, Tan
Pfundt, Rolph
Yntema, Helger G.
de Vries, Bert B. A.
Kleefstra, Tjitske
Brunner, Han G.
Vissers, Lisenka E. L. M.
Veltman, Joris A.
TI Genome sequencing identifies major causes of severe intellectual
disability
SO NATURE
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; MENTAL-RETARDATION; AUTISM;
SCHIZOPHRENIA; VARIANTS; SPECTRUM; PROTEIN; PARADIGM; NETWORK
AB Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin(1,2). The extensive genetic heterogeneity of this disorder requires a genome-wide detection of all types of genetic variation. Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the majority of cases remain undiagnosed(3-6). Here we applied whole-genome sequencing to 50 patients with severe ID and their unaffected parents. All patients included had not received a molecular diagnosis after extensive genetic prescreening, including microarray-based CNV studies and exome sequencing. Notwithstanding this prescreening, 84 de novo SNVs affecting the coding region were identified, which showed a statistically significant enrichment of loss-of-function mutations as well as an enrichment for genes previously implicated in ID-related disorders. In addition, we identified eight de novo CNVs, including single-exon and intra-exonic deletions, as well as interchromosomal duplications. These CNVs affected known ID genes more frequently than expected. On the basis of diagnostic interpretation of all de novo variants, a conclusive genetic diagnosis was reached in 20 patients. Together with one compound heterozygous CNV causing disease in a recessive mode, this results in a diagnostic yield of 42% in this extensively studied cohort, and 62% as a cumulative estimate in an unselected cohort. These results suggest that de novo SNVs and CNVs affecting the coding region are a major cause of severe ID. Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.
C1 [Gilissen, Christian; Hehir-Kwa, Jayne Y.; Thung, Djie Tjwan; van de Vorst, Maartje; van Bon, Bregje W. M.; Willemsen, Marjolein H.; Kwint, Michael; Janssen, Irene M.; Hoischen, Alexander; Schenck, Annette; Bo, Tan; Pfundt, Rolph; Yntema, Helger G.; de Vries, Bert B. A.; Kleefstra, Tjitske; Brunner, Han G.; Vissers, Lisenka E. L. M.; Veltman, Joris A.] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands.
[Gilissen, Christian; Hehir-Kwa, Jayne Y.; Thung, Djie Tjwan; van de Vorst, Maartje; van Bon, Bregje W. M.; Willemsen, Marjolein H.; Kwint, Michael; Janssen, Irene M.; Hoischen, Alexander; Schenck, Annette; Bo, Tan; Pfundt, Rolph; Yntema, Helger G.; de Vries, Bert B. A.; Kleefstra, Tjitske; Brunner, Han G.; Vissers, Lisenka E. L. M.; Veltman, Joris A.] Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, NL-6525 GA Nijmegen, Netherlands.
[Leach, Richard; Klein, Robert; Tearle, Rick] Complete Genom Inc, Mountain View, CA 94043 USA.
[Bo, Tan] Cent S Univ, State Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China.
[Gilissen, Christian; Brunner, Han G.; Veltman, Joris A.] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 ER Maastricht, Netherlands.
RP Veltman, JA (reprint author), Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Geert Grootepl 10, NL-6525 GA Nijmegen, Netherlands.
EM joris.veltman@radboudumc.nl
RI Kleefstra, Tjitske/G-2619-2012; Brunner, Han/C-9928-2013; Vissers,
Lisenka/A-2598-2015; Veltman, Joris/F-5128-2010
FU Netherlands Organization for Scientific Research [912-12-109,
916-14-043, 916-12-095, 907-00-365, SH-271-13]; European Research
Council (ERC) [DENOVO 281964]
FX We thank R. Drmanac, K. Albers, J. Goeman, D. Lugtenberg and P. N.
Robinson for useful discussions, and M. Steehouwer, P. de Vries and W.
Nillesen for technical support. This work was in part financially
supported by grants from the Netherlands Organization for Scientific
Research (912-12-109 to J. A. V., A. S. and B.B.A.d.V., 916-14-043 to C.
G., 916-12-095 to A. H., 907-00-365 to T. K. and SH-271-13 to C. G. and
J. A. V.) and the European Research Council (ERC Starting grant DENOVO
281964 to J.A.V.).
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NR 30
TC 35
Z9 36
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JUL 17
PY 2014
VL 511
IS 7509
BP 344
EP +
DI 10.1038/nature13394
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AL2YR
UT WOS:000338992200035
PM 24896178
ER
PT J
AU Baron-Cohen, S
Cassidy, S
Auyeung, B
Allison, C
Achoukhi, M
Robertson, S
Pohl, A
Lai, MC
AF Baron-Cohen, Simon
Cassidy, Sarah
Auyeung, Bonnie
Allison, Carrie
Achoukhi, Maryam
Robertson, Sarah
Pohl, Alexa
Lai, Meng-Chuan
TI Attenuation of Typical Sex Differences in 800 Adults with Autism vs.
3,900 Controls
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; SPECTRUM QUOTIENT AQ; SYSTEMATIZING QUOTIENT;
ASPERGER-SYNDROME; CHILDHOOD AUTISM; EMPATHY QUOTIENT; DISORDERS;
GENDER; FEMALES; BRAIN
AB Sex differences have been reported in autistic traits and systemizing (male advantage), and empathizing (female advantage) among typically developing individuals. In individuals with autism, these cognitive-behavioural profiles correspond to predictions from the "extreme male brain" (EMB) theory of autism (extreme scores on autistic traits and systemizing, below average on empathizing). Sex differences within autism, however, have been under-investigated. Here we show in 811 adults (454 females) with autism and 3,906 age-matched typical control adults (2,562 females) who completed the Empathy Quotient (EQ), the Systemizing Quotient-Revised (SQ-R), and the Autism Spectrum Quotient (AQ), that typical females on average scored higher on the EQ, typical males scored higher on the SQ-R and AQ, and both males and females with autism showed a shift toward the extreme of the "male profile" on these measures and in the distribution of "brain types" (the discrepancy between standardized EQ and SQ-R scores). Further, normative sex differences are attenuated but not abolished in adults with autism. The findings provide strong support for the EMB theory of autism, and highlight differences between males and females with autism.
C1 [Baron-Cohen, Simon; Cassidy, Sarah; Auyeung, Bonnie; Allison, Carrie; Achoukhi, Maryam; Robertson, Sarah; Pohl, Alexa; Lai, Meng-Chuan] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Baron-Cohen, Simon; Lai, Meng-Chuan] Cambridgeshire & Peterborough Natl Hlth Serv Fdn, Cambridge Lifespan Asperger Syndrome Serv CLASS C, Cambridge, England.
[Auyeung, Bonnie] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland.
[Lai, Meng-Chuan] Natl Taiwan Univ Hosp & Coll Med, Dept Psychiat, Taipei, Taiwan.
RP Baron-Cohen, S (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
EM sb205@cam.ac.uk; mcl45@cam.ac.uk
FU UK Medical Research Council; Wellcome Trust; Autism Research Trust;
William Binks Autism Neuroscience Fellowship; European Autism
Interventions - A Multicentre Study for Developing New Medications
(EU-AIMS); Wolfson College, Cambridge
FX This study received funding from the UK Medical Research Council, the
Wellcome Trust, and the Autism Research Trust. Meng-Chuan Lai was
supported by the William Binks Autism Neuroscience Fellowship, the
European Autism Interventions - A Multicentre Study for Developing New
Medications (EU-AIMS), and Wolfson College, Cambridge. The funders had
no role in study design, data collection and analysis, decision to
publish, or preparation of the manuscript.
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NR 58
TC 4
Z9 4
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 16
PY 2014
VL 9
IS 7
AR e102251
DI 10.1371/journal.pone.0102251
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO4KM
UT WOS:000341306600051
PM 25029203
ER
PT J
AU Gebauer, L
Skewes, J
Westphael, G
Heaton, P
Vuust, P
AF Gebauer, Line
Skewes, Joshua
Westphael, Gitte
Heaton, Pamela
Vuust, Peter
TI Intact brain processing of musical emotions in autism spectrum disorder,
but more cognitive load and arousal in happy vs. sad music
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; music; emotion; fMRI
ID SUPERIOR TEMPORAL SULCUS; ASPERGERS-SYNDROME; FACIAL EXPRESSIONS;
PERCEPTION; RESPONSES; CHILDREN; FACE; ALEXITHYMIA; RECOGNITION;
EXPERIENCE
AB Music is a potent source for eliciting emotions, but not everybody experience emotions in the same way. Individuals with autism spectrum disorder (ASD) show difficulties with social and emotional cognition. Impairments in emotion recognition are widely studied in ASD, and have been associated with atypical brain activation in response to emotional expressions in faces and speech. Whether these impairments and atypical brain responses generalize to other domains, such as emotional processing of music, is less clear. Using functional magnetic resonance imaging, we investigated neural correlates of emotion recognition in music in high-functioning adults with ASD and neurotypical adults. Both groups engaged similar neural networks during processing of emotional music, and individuals with ASD rated emotional music comparable to the group of neurotypical individuals. However, in the ASD group, increased activity in response to happy compared to sad music was observed in dorsolateral prefrontal regions and in the rolandic operculum/insula, and we propose that this reflects increased cognitive processing and physiological arousal in response to emotional musical stimuli in this group.
C1 [Gebauer, Line; Skewes, Joshua; Westphael, Gitte; Vuust, Peter] Aarhus Univ, Ctr Functionally Integrat Neurosci, Dept Clin Med, DK-8000 Aarhus, Denmark.
[Gebauer, Line] Aarhus Univ, Interacting Minds Ctr, DK-8000 Aarhus, Denmark.
[Heaton, Pamela] Goldsmiths Univ London, Dept Psychol, London, England.
[Vuust, Peter] Royal Acad Mus, Aarhus, Denmark.
RP Gebauer, L (reprint author), Aarhus Univ, Ctr Functionally Integrat Neurosci, Dept Clin Med, Noerrebrogade 44,Build 10G,5th Floor, DK-8000 Aarhus, Denmark.
EM gebauer@pet.auh.dk
FU Lundbeck Foundation [R32-A2846]
FX This work was supported by the Lundbeck Foundation (R32-A2846 to Line
Gebauer).
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NR 105
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD JUL 15
PY 2014
VL 8
AR 192
DI 10.3389/fnins.2014.00192
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AW8GK
UT WOS:000346499100001
PM 25076869
ER
PT J
AU Vogan, VM
Morgan, BR
Lee, W
Powell, TL
Smith, ML
Taylor, MJ
AF Vogan, Vanessa M.
Morgan, Benjamin R.
Lee, Wayne
Powell, Tamara L.
Smith, Mary Lou
Taylor, Margot J.
TI The neural correlates of visuo-spatial working memory in children with
autism spectrum disorder: effects of cognitive load
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Working memory; Autism spectrum disorder; Functional magnetic resonance
imaging; Executive function; Cognitive load; Frontal lobe; Parietal lobe
ID HIGH-FUNCTIONING AUTISM; DORSAL VISUAL PATHWAY; EXECUTIVE FUNCTION;
LEARNING-DIFFICULTIES; CORTICAL ACTIVATION; FRONTAL-CORTEX; GREY-MATTER;
BRAIN; DEFICITS; FMRI
AB Background: Research on the neural bases of cognitive deficits in autism spectrum disorder (ASD) has shown that working memory (WM) difficulties are associated with abnormalities in the prefrontal cortex. However, cognitive load impacts these findings, and no studies have examined the relation between WM load and neural underpinnings in children with ASD. Thus, the current study determined the effects of cognitive load on WM, using a visuo-spatial WM capacity task in children with and without ASD with functional magnetic resonance imaging (fMRI).
Methods: We used fMRI and a 1-back colour matching task (CMT) task with four levels of difficulty to compare the cortical activation patterns associated with WM in children (7-13 years old) with high functioning autism (N = 19) and matched controls (N = 17) across cognitive load.
Results: Performance on CMT was comparable between groups, with the exception of one difficulty level. Using linear trend analyses, the control group showed increasing activation as a function of difficulty level in frontal and parietal lobes, particularly between the highest difficulty levels, and decreasing activation as a function of difficulty level in the posterior cingulate and medial frontal gyri. In contrast, children with ASD showed increasing activation only in posterior brain regions and decreasing activation in the posterior cingulate and medial frontal gyri, as a function of difficulty level. Significant differences were found in the precuneus, dorsolateral prefrontal cortex and medial premotor cortex, where control children showed greater positive linear relations between cortical activity and task difficulty level, particularly at the highest difficulty levels, but children with ASD did not show these trends.
Conclusions: Children with ASD showed differences in activation in the frontal and parietal lobes-both critical substrates for visuo-spatial WM. Our data suggest that children with ASD rely mainly on posterior brain regions associated with visual and lower level processing, whereas controls showed activity in frontal lobes related to the classic WM network. Findings will help guide future work by localizing areas of vulnerability to developmental disturbances.
C1 [Vogan, Vanessa M.; Morgan, Benjamin R.; Lee, Wayne; Powell, Tamara L.; Smith, Mary Lou; Taylor, Margot J.] Hosp Sick Children, Diagnost Imaging & Res Inst, Toronto, ON M5G 1X8, Canada.
[Vogan, Vanessa M.; Taylor, Margot J.] Univ Toronto, Ontario Inst Studies Educ, Dept Appl Psychol & Human Dev, Toronto, ON M5S 1V6, Canada.
[Smith, Mary Lou; Taylor, Margot J.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1V6, Canada.
RP Vogan, VM (reprint author), Hosp Sick Children, Diagnost Imaging & Res Inst, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM vanessa.vogan@sickkids.ca
FU Crescent School in Toronto; Canadian Institutes of Health Research
[MOP-106582]
FX The authors would like to thank all of the families and children for
their support and participation. We would also like to thank Rina Goukon
for her assistance with participant recruitment and data collection.
Many thanks to Rachel Leung and Becky Baatjes for administering the
ADOS-R and ADOS-2 and Dr. Jessica Brian for reviewing all assessments.
Sincere thanks to our MRI technicians, Ruth Weiss and Tammy Rayner, for
all their support in data acquisition. The authors would also like to
thank Marie Arsalidou for developing the CMT task and allowing us to use
it. Lastly, thanks to Crescent School in Toronto for their support and
participation in this project. This research was funded by Canadian
Institutes of Health Research (MOP-106582) and preliminary analyses of
these data were presented as a poster at the International Meeting for
Autism Research (IMFAR) 2013.
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NR 79
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD JUL 15
PY 2014
VL 6
AR 19
DI 10.1186/1866-1955-6-19
PG 15
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AL6ZU
UT WOS:000339283400001
PM 25057329
ER
PT J
AU Mostafa, GA
El-Sherif, DF
Ai-Ayadhi, LY
AF Mostafa, Gehan A.
El-Sherif, Dalia F.
Ai-Ayadhi, Laila Y.
TI Systemic auto-antibodies in children with autism
SO JOURNAL OF NEUROIMMUNOLOGY
LA English
DT Article
DE Anti-ds-DNA antibodies; ANA, autism; Autoimmunity; Family history of
autoimmunity
ID ELEVATED SERUM-LEVELS; LUPUS-ERYTHEMATOSUS; ANTINUCLEAR ANTIBODIES;
AUTOIMMUNE-DISEASES; INCREASED FREQUENCY; FAMILY-HISTORY; ASSOCIATION;
DISORDERS; PROTEIN; BRAIN
AB Autoimmunity to central nervous system may have a role in the pathogenesis of autism. A subset of anti-ds-DNA antibodies has been recently proved to be pathogenic to the brain as well as to the kidney. Due to the paucity of studies investigating the frequency of systemic auto-antibodies in autism, we are the first to investigate the frequency of anti-ds-DNA antibodies in a group of autistic children. The seropositivity of anti-nuclear antibodies (ANA) was also investigated. Serum anti-ds-DNA antibodies and ANA were measured in 100 autistic children, aged between 4 and 11 years, in comparison to 100 healthy-matched children. The seropositivity of anti-ds-DNA antibodies and ANA in autistic children was 34% and 25%, respectively. In addition, 42% of autistic children were seropositive for anti-ds-DNA antibodies and/or ANA. The frequencies of anti-ds-DNA antibodies and ANA in autistic children were significantly higher than that in healthy children (4% and 2%, respectively), (P < 0.001 and P < 0.001, respectively). Autistic children with a family history of autoimmunity (45%) had significantly higher frequency of serum anti-ds-DNA antibodies (48.9%) than patients without such a history (21.8%), P = 0.008. There was a significant positive association between the seropositivity of anti-ds-DNA antibodies and ANA (P < 0.001). In conclusion, anti-ds-DNA antibodies and ANA were found in the sera of a subgroup of autistic children. However, replication studies of larger samples are warranted to validate whether these antibodies are a mere association or have a pathogenic role in some autistic children. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Mostafa, Gehan A.; El-Sherif, Dalia F.] Ain Shams Univ, Fac Med, Dept Pediat, Cairo, Egypt.
[Mostafa, Gehan A.; Ai-Ayadhi, Laila Y.] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Dept Physiol,Al Amodi Autism Res Chair, Riyadh, Saudi Arabia.
RP Mostafa, GA (reprint author), 9 Ahmed El Samman St Makram Ebaid, Cairo 11511, Egypt.
EM gehan.mostafa2000@yahoo.com
FU King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia;
NPST, Health Research and Studies Program at Kind Saud University
FX This work was financially supported by the King Abdulaziz City for
Science and Technology, Riyadh, Saudi Arabia. It was also supported by
NPST, Health Research and Studies Program at Kind Saud University.
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NR 38
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-5728
EI 1872-8421
J9 J NEUROIMMUNOL
JI J. Neuroimmunol.
PD JUL 15
PY 2014
VL 272
IS 1-2
BP 94
EP 98
DI 10.1016/j.jneuroim.2014.04.011
PG 5
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AK7MX
UT WOS:000338613500014
PM 24837704
ER
PT J
AU Di Nardo, A
Wertz, MH
Kwiatkowski, E
Tsai, PT
Leech, JD
Greene-Colozzi, E
Goto, J
Dilsiz, P
Talos, DM
Clish, CB
Kwiatkowski, DJ
Sahin, M
AF Di Nardo, Alessia
Wertz, Mary H.
Kwiatkowski, Erica
Tsai, Peter T.
Leech, Jarrett D.
Greene-Colozzi, Emily
Goto, June
Dilsiz, Pelin
Talos, Delia M.
Clish, Clary B.
Kwiatkowski, David J.
Sahin, Mustafa
TI Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent
regulation of ULK1
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; ACTIVATED PROTEIN-KINASE; NEURODEGENERATIVE
DISEASES; SERINE/THREONINE KINASE; CAENORHABDITIS-ELEGANS;
HUNTINGTONS-DISEASE; ENHANCE AUTOPHAGY; PHOSPHORYLATION; DYSFUNCTION;
CELLS
AB Tuberous sclerosis complex (TSC) is a disorder arising from mutation in the TSC1 or TSC2 gene, characterized by the development of hamartomas in various organs and neurological manifestations including epilepsy, intellectual disability and autism. TSC1/2 protein complex negatively regulates the mammalian target of rapamycin complex 1 (mTORC1) a master regulator of protein synthesis, cell growth and autophagy. Autophagy is a cellular quality-control process that sequesters cytosolic material in double membrane vesicles called autophagosomes and degrades it in autolysosomes. Previous studies in dividing cells have shown that mTORC1 blocks autophagy through inhibition of Unc-51-like-kinase1/2 (ULK1/2). Despite the fact that autophagy plays critical roles in neuronal homeostasis, little is known on the regulation of autophagy in neurons. Here we show that unlike in non-neuronal cells, Tsc2-deficient neurons have increased autolysosome accumulation and autophagic flux despite mTORC1-dependent inhibition of ULK1. Our data demonstrate that loss of Tsc2 results in autophagic activity via AMPK-dependent activation of ULK1. Thus, in Tsc2-knockdown neurons AMPK activation is the dominant regulator of autophagy. Notably, increased AMPK activity and autophagy activation are also found in the brains of Tsc1-conditional mouse models and in cortical tubers resected from TSC patients. Together, our findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK. By uncovering the autophagy dysfunction associated with Tsc2 loss in neurons, our work sheds light on a previously uncharacterized cellular mechanism that contributes to altered neuronal homeostasis in TSC disease.
C1 [Di Nardo, Alessia; Wertz, Mary H.; Kwiatkowski, Erica; Tsai, Peter T.; Leech, Jarrett D.; Greene-Colozzi, Emily; Sahin, Mustafa] Harvard Univ, Sch Med, Childrens Hosp Boston, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA 02115 USA.
[Goto, June; Kwiatkowski, David J.] Harvard Univ, Sch Med, Brigham & Womens Hosp, Div Translat Med,Dept Med, Boston, MA 02115 USA.
[Dilsiz, Pelin; Talos, Delia M.] NYU, Sch Med, Dept Neurol, New York, NY 10016 USA.
[Clish, Clary B.] Broad Inst Massachusetts Inst Technol & Harvard U, Cambridge, MA 02142 USA.
RP Sahin, M (reprint author), Childrens Hosp, Dept Neurol, 300 Longwood Ave,CLSB 13074, Boston, MA 02115 USA.
EM mustafa.sahin@childrens.harvard.edu
FU Nancy Lurie Marks Family Foundation; Autism Speaks; Boston Children's
Hospital Translational Research Program; National Institute of Health
[P01 NS024279, K08 NS083733]; Tuberous Sclerosis Alliance; FACES
[Finding a Cure for Epilepsy and Seizures]; National Institute of Child
Health and Human Development-Brain and Tissue Bank for Developmental
Disorders at the University of Maryland, Baltimore, MD, USA
[HHSN275200900011C, N01-HD-9-0011]
FX This work was supported by Nancy Lurie Marks Family Foundation, Autism
Speaks and Boston Children's Hospital Translational Research Program (to
M. S.), National Institute of Health [P01 NS024279 (to D.J.K.) and K08
NS083733 (to P. T. T.)], the Tuberous Sclerosis Alliance (to A.D.N.),
FACES [Finding a Cure for Epilepsy and Seizures (to D. M. T.)]. Control
human tissue was obtained from the National Institute of Child Health
and Human Development-Brain and Tissue Bank for Developmental Disorders
at the University of Maryland, Baltimore, MD, USA, contract
HHSN275200900011C, Ref. No. N01-HD-9-0011.
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NR 46
TC 6
Z9 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUL 15
PY 2014
VL 23
IS 14
BP 3865
EP 3874
DI 10.1093/hmg/ddu101
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK7TJ
UT WOS:000338630300021
PM 24599401
ER
PT J
AU Forrester, GS
Pegler, R
Thomas, MSC
Mareschal, D
AF Forrester, Gillian S.
Pegler, Ruth
Thomas, Michael S. C.
Mareschal, Denis
TI Handedness as a marker of cerebral lateralization in children with and
without autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Cerebral lateralization; Handedness; Autism; Self-directed behavior
ID CHIMPANZEES PAN-TROGLODYTES; HAND PREFERENCE; SPECTRUM DISORDERS;
NONHUMAN-PRIMATES; DEVELOPMENTAL INSTABILITY; EMOTIONAL VALENCE;
YOUNG-CHILDREN; BRAIN; ASYMMETRIES; LANGUAGE
AB We employed a multiple case studies approach to investigate lateralization of hand actions in typically and atypically developing children between 4 and 5 years of age. We report on a detailed set of over 1200 hand actions made by four typically developing boys and four boys with autism. Participants were assessed for unimanual hand actions to both objects and the self (self-directed behaviors). Individual and group analyses suggest that typically developing children have a right hand dominance for hand actions to objects and a left hand dominance for hand actions for self-directed behaviors, revealing a possible dissociation for functional specialization of the left and right hemispheres respectively. Children with autism demonstrated mixed-handedness for both target conditions, consistent with the hypothesis that there is reduced cerebral specialization in these children. The findings are consistent with the view that observed lateralized motor action can serve as an indirect behavioral marker for evidence of cerebral lateralization. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Forrester, Gillian S.; Pegler, Ruth] Univ Westminster, Dept Psychol, London W1B 2HW, England.
[Thomas, Michael S. C.; Mareschal, Denis] Birkbeck Univ London, Dept Psychol Sci, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
RP Forrester, GS (reprint author), Univ Westminster, Dept Psychol, 309 Regent St, London W1B 2HW, England.
EM g.forrester@westminster.ac.uk
FU European (ANALOGY) [FP6-NEST-029088]; European (ACT)
[FP7-MC-ITN-289404]; ESRC [RES-062-23-2721]; University of Westminster's
Psychology Publication Stimulus Scheme
FX We are grateful to the parents, teachers and children of Livingstone
Primary School for their participation and to Dr. Kristelle Hudry for
conducting diagnostic testing. We gratefully acknowledge funding support
provided in part by European Grants: FP6-NEST-029088(ANALOGY),
FP7-MC-ITN-289404(ACT), ESRC grant RES-062-23-2721 and the University of
Westminster's Psychology Publication Stimulus Scheme.
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NR 101
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD JUL 15
PY 2014
VL 268
BP 14
EP 21
DI 10.1016/j.bbr.2014.03.040
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ4MQ
UT WOS:000337650900003
PM 24704491
ER
PT J
AU Weidner, KL
Buenaventura, DF
Chadman, KK
AF Weidner, Kate L.
Buenaventura, Diego F.
Chadman, Kathryn K.
TI Mice over-expressing BDNF in forebrain neurons develop an altered
behavioral phenotype with age
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Brain derived neurotrophic factor; Transgenic mice; Autism; Social
approach; Behavioral phenotype
ID MARBLE-BURYING BEHAVIOR; NEUROTROPHIC FACTOR; EPILEPTIFORM ACTIVITY;
OVEREXPRESSING MICE; SPECTRUM DISORDERS; MENTAL-RETARDATION; INBRED
STRAINS; PROTEIN-LEVELS; AUTISM; MOUSE
AB Evidence from clinical studies suggests that abnormal activity of brain derived neurotrophic factor (BDNF) contributes to the pathogenesis of autism spectrum disorders (ASDs). A genetically modified line of mice over-expressing a BDNF transgene in forebrain neurons was used to investigate if this mutation leads to changes in behavior consistent with ASD. The mice used in these experiments were behaviorally tested past 5 months of age when spontaneous seizures were evident. These seizures were not observed in age-matched wildtype (WT) mice or younger mice from this transgenic line. The BDNF mice in these experiments weighed less than their WT littermates. The BDNF transgenic (BDNF-tg) mice demonstrated similar levels of sociability in the social approach test. Conversely, the BDNF-tg mice demonstrated less obsessive compulsive-like behavior in the marble burying test, less anxiety-like behavior in the elevated plus maze test, and less depressive-like behavior in the forced swim test. Changes in behavior were found in these older mice that have not been observed in younger mice from this transgenic line, which may be due to the development of seizures as the mice age. These mice do not have an ASD phenotype but may be useful to study adult onset epilepsy. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Weidner, Kate L.; Buenaventura, Diego F.] CUNY Coll Staten Isl, Staten Isl, NY 10314 USA.
[Weidner, Kate L.; Buenaventura, Diego F.; Chadman, Kathryn K.] New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA.
RP Chadman, KK (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM klw7fu@virginia.edu; kathryn.chadman@opwdd.ny.gov
FU New York State Office for People with Developmental Disabilities; Center
for Developmental Neuroscience at the College of Staten Island, City
University of New York
FX This work was supported by the New York State Office for People with
Developmental Disabilities and was done in conjunction with the Center
for Developmental Neuroscience at the College of Staten Island, City
University of New York. We thank Dr. G.Y. Wen for PCR equipment and Dr.
J.N. Crawley for the gift of the original BDNF-tg breeding pairs. We
also thank Drs. G.Y. Wen and S.R. Guariglia, for critical reading of the
manuscript.
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NR 44
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD JUL 15
PY 2014
VL 268
BP 222
EP 228
DI 10.1016/j.bbr.2014.04.025
PG 7
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AJ4MQ
UT WOS:000337650900026
PM 24768643
ER
PT J
AU Park, MTM
Pipitone, J
Baer, LH
Winterburn, JL
Shah, Y
Chavez, S
Schira, MM
Lobaugh, NJ
Lerch, JP
Voineskos, AN
Chakravarty, MM
AF Park, Min Tae M.
Pipitone, Jon
Baer, Lawrence H.
Winterburn, Julie L.
Shah, Yashvi
Chavez, Sofia
Schira, Mark M.
Lobaugh, Nancy J.
Lerch, Jason P.
Voineskos, Aristotle N.
Chakravarty, M. Mallar
TI Derivation of high-resolution MRI atlases of the human cerebellum at 3 T
and segmentation using multiple automatically generated templates
SO NEUROIMAGE
LA English
DT Article
DE MRI; High resolution; Atlas; Cerebellum; Lobule; Automatic
ID INTRINSIC FUNCTIONAL CONNECTIVITY; COGNITIVE-AFFECTIVE SYNDROME;
MAGNETIC-RESONANCE; ALZHEIMERS-DISEASE; ONSET SCHIZOPHRENIA; WARPING
TECHNIQUES; BRAIN; REGISTRATION; AUTISM; VERMIS
AB The cerebellum has classically been linked to motor learning and coordination. However, there is renewed interest in the role of the cerebellum in non-motor functions such as cognition and in the context of different neuropsychiatric disorders. The contribution of neuroimaging studies to advancing understanding of cerebellar structure and function has been limited, partly due to the cerebellum being understudied as a result of contrast and resolution limitations of standard structural magnetic resonance images (MRI). These limitations inhibit proper visualization of the highly compact and detailed cerebellar foliations. In addition, there is a lack of robust algorithms that automatically and reliably identify the cerebellum and its subregions, further complicating the design of large-scale studies of the cerebellum. As such, automated segmentation of the cerebellar lobules would allow detailed population studies of the cerebellum and its subregions. In this manuscript, we describe a novel set of high-resolution in vivo atlases of the cerebellum developed by pairing MR imaging with a carefully validated manual segmentation protocol. Using these cerebellar atlases as inputs, we validate a novel automated segmentation algorithm that takes advantage of the neuroanatomical variability that exists in a given population under study in order to automatically identify the cerebellum, and its lobules. Our automatic segmentation results demonstrate good accuracy in the identification of all lobules (mean Kappa [kappa] = 0.731; range 0.40-0.89), and the entire cerebellum (means kappa = 0.925; range 0.90-0.94) when compared to "gold-standard" manual segmentations. These results compare favorably in comparison to other publically available methods for automatic segmentation of the cerebellum. The completed cerebellar atlases are available freely online (http://imaging-genetics.camh.ca/cerebellum) and can be customized to the unique neuroanatomy of different subjects using the proposed segmentation pipeline (https://github.com/pipitone/MAGeTbrain). (C) 2014 Elsevier Inc. All rights reserved.
C1 [Park, Min Tae M.; Pipitone, Jon; Winterburn, Julie L.; Shah, Yashvi; Voineskos, Aristotle N.; Chakravarty, M. Mallar] Ctr Addict & Mental Hlth, Res Imaging Ctr, Kimel Family Translat Imaging Genet Res Lab, Toronto, ON M5T 1R8, Canada.
[Baer, Lawrence H.] Concordia Univ, Dept Psychol, Montreal, PQ H3G 1M8, Canada.
[Chavez, Sofia; Lobaugh, Nancy J.] Ctr Addict & Mental Hlth, Res Imaging Ctr, MRI Unit, Toronto, ON M5T 1R8, Canada.
[Chavez, Sofia; Voineskos, Aristotle N.; Chakravarty, M. Mallar] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Schira, Mark M.] Univ Wollongong, Sch Psychol, Wollongong, NSW, Australia.
[Schira, Mark M.] Neurosci Res Australia, Sydney, NSW, Australia.
[Lobaugh, Nancy J.] Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada.
[Lerch, Jason P.] Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 1X8, Canada.
[Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
RP Park, MTM (reprint author), Ctr Addict & Mental Hlth, Res Imaging Ctr, Kimel Family Translat Imaging Genet Res Lab, 250 Coll St, Toronto, ON M5T 1R8, Canada.
EM mtpark89@gmail.com; mallar.chakravarty@camh.ca
FU CAMH Foundation; W. Garfield Weston Foundation; Canadian Institutes of
Health Research; Ontario Mental Health Foundation; NARSAD; National
Institute of Mental Health [R01MH099167]; Canada Foundation for
Innovation under the Compute Canada; Government of Ontario; Ontario
Research Fund - Research Excellence; University of Toronto
FX We wish to thank Anusha Ravichandran for help with image acquisition,
and we acknowledge support from the CAMH Foundation, thanks to Michael
and Sonja Koerner, the Kimel Family, and the Paul E. Garfinkel New
Investigator Catalyst Award. MMC is funded by the W. Garfield Weston
Foundation and ANV is funded by the Canadian Institutes of Health
Research, Ontario Mental Health Foundation, NARSAD, and the National
Institute of Mental Health (R01MH099167). Computations were performed on
the GPC supercomputer at the SciNet HPC Consortium. SciNet is funded by:
the Canada Foundation for Innovation under the auspices of Compute
Canada; the Government of Ontario; Ontario Research Fund - Research
Excellence; and the University of Toronto.
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NR 79
TC 6
Z9 6
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD JUL 15
PY 2014
VL 95
BP 217
EP 231
DI 10.1016/j.neuroimage.2014.03.037
PG 15
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AI9QN
UT WOS:000337267900021
PM 24657354
ER
PT J
AU Faust, M
Kenett, YN
AF Faust, Miriam
Kenett, Yoed N.
TI Rigidity, chaos and integration: hemispheric interaction and individual
differences in metaphor comprehension
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE metaphors; creative language; cerebral hemispheres; network science;
chaos; rigidity; integration
ID HIGH-FUNCTIONING AUTISM; SMALL-WORLD NETWORKS; SEMANTIC NETWORKS;
CEREBRAL HEMISPHERES; ASPERGERS SYNDROME; BRAIN; LANGUAGE;
SCHIZOPHRENIA; CREATIVITY; DYNAMICS
AB Neurotypical individuals cope flexibly with the full range of semantic relations expressed in human language, including metaphoric relations. This impressive semantic ability may be associated with distinct and flexible patterns of hemispheric interaction, including higher right hemisphere (RH) involvement for processing novel metaphors. However this ability may be impaired in specific clinical conditions, such as Asperger syndrome (AS) and schizophrenia. The impaired semantic processing is accompanied by different patterns of hemispheric interaction during semantic processing, showing either reduced (in Asperger syndrome) or excessive (in schizophrenia) RH involvement. This paper interprets these individual differences using the terms Rigidity Chaos and Integration, which describe patterns of semantic memory network states that either lead to semantic well-being or are disruptive of it. We argue that these semantic network states lie on a rigidity-chaos semantic continuum. We define these terms via network science terminology and provide network, cognitive and neural evidence to support our claim. This continuum includes left hemisphere (LH) hyper rigid semantic memory state on one end (e g., in persons with AS), and RH chaotic and over-flexible semantic memory state on the other end (e.g., in persons with schizophrenia). In between these two extremes lie different states of semantic memory structure which are related to individual differences in semantic creativity. We suggest that efficient semantic processing is achieved by semantic integration, a balance between semantic rigidity and semantic chaos. Such integration is achieved via intra-hemispheric communication. However, impairments to this well-balanced and integrated pattern of hemispheric interaction, e.g., when one hemisphere dominates the other, may lead to either semantic rigidity or semantic chaos, moving away from semantic integration and thus impairing the processing of metaphoric language.
C1 [Faust, Miriam; Kenett, Yoed N.] Bar Ilan Univ, Leslie & Susan Gonda Goldschmied Multidisciplinar, IL-52900 Ramat Gan, Israel.
[Faust, Miriam] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
RP Faust, M (reprint author), Bar Ilan Univ, Leslie & Susan Gonda Goldschmied Multidisciplinar, Bldg 901, IL-52900 Ramat Gan, Israel.
EM faustm@mail.biu.ac.il
FU Israel Science Foundation (ISF) [724/09]; I-CORE Program of the Planning
and Budgeting Committee
FX We thank Dror Kenett for his helpful remarks on this manuscript. This
research was supported by the Israel Science Foundation (ISF) grant
(number 724/09) to Miriam Faust and partially supported by the I-CORE
Program of the Planning and Budgeting Committee.
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NR 100
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JUL 14
PY 2014
VL 8
AR 511
DI 10.3389/fnhum.2014.00511
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7QQ
UT WOS:000340063100001
PM 25071534
ER
PT J
AU Marnetto, D
Molineris, I
Grassi, E
Provero, P
AF Marnetto, Davide
Molineris, Ivan
Grassi, Elena
Provero, Paolo
TI Genome-wide Identification and Characterization of Fixed Human-Specific
Regulatory Regions
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID SEMANTIC SIMILARITY; GO TERMS; EVOLUTION; EXPRESSION; ELEMENTS; DNA;
STICKLEBACKS; HYPOTHESIS; DISORDERS; FOREBRAIN
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C1 [Marnetto, Davide; Molineris, Ivan; Grassi, Elena; Provero, Paolo] Univ Turin, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy.
[Provero, Paolo] Ist Sci San Raffaele, Ctr Translat Genom & Bioinformat, I-20132 Milan, Italy.
RP Provero, P (reprint author), Univ Turin, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy.
EM paolo.provero@unito.it
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TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD JUL 13
PY 2014
VL 95
IS 1
BP 39
EP 48
DI 10.1016/j.ajhg.2014.05.011
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA AL1RP
UT WOS:000338904100003
PM 24995867
ER
PT J
AU Liang, MK
Zhong, J
Liu, HX
Lopatina, O
Nakada, R
Yamauchi, AM
Higashida, H
AF Liang, Mingkun
Zhong, Jing
Liu, Hong-Xiang
Lopatina, Olga
Nakada, Ryusuke
Yamauchi, Agnes-Mikiko
Higashida, Haruhiro
TI Pairmate-dependent pup retrieval as parental behavior in male mice
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE parental behavior; paternal care; pup retrieval behavior; paternity;
mouse
ID MEDIAL PREOPTIC AREA; AUTISM SPECTRUM DISORDER; BRAIN OXYTOCIN
SECRETION; PATERNAL BEHAVIOR; MATERNAL-BEHAVIOR;
PEROMYSCUS-CALIFORNICUS; NUCLEUS-ACCUMBENS; VENTRAL PALLIDUM; BIPARENTAL
CARE; SOCIAL-BEHAVIOR
AB Appropriate parental care by fathers can greatly facilitate healthy human family life. However, much less is known about paternal behavior in animals compared to those regarding maternal behavior. Previously, we reported that male ICR strain laboratory mice, although not spontaneously parental, can be induced to display maternal-like parental care (pup retrieval) when separated from their pups by signals from the pairmate dam (Liu et al., 2013). This parental behavior by the ICR sires, which are not genetically biparental, is novel and has been designated as pairmate-dependent paternal behavior. However, the factors critical for this paternal behavior are unclear. Here, we report that the pairmate-dependent paternal retrieval behavior is observed especially in the ICR strain and not in C57BL/6 or BALB/c mice. An ICR sire displays retrieval behavior only toward his biological pups. A sire co-housed with an unrelated non-pairing dam in a new environment, under which 38-kHz ultrasonic vocalizations are not detected, does not show parenting behavior. It is important for sires to establish their own home territory (cage) by continuous housing and testing to display retrieval behavior. These results indicated that the ICR sires display distinct paternity, including father-child social interaction, and shed light on parental behavior, although further analyses of paternal care at the neuroendocrinological and neurocircuitry levels are required.
C1 [Liang, Mingkun; Zhong, Jing; Liu, Hong-Xiang; Lopatina, Olga; Higashida, Haruhiro] Kanazawa Univ, Res Ctr Child Mental Dev, Dept Basic Res Social Recognit & Memory, Kanazawa, Ishikawa 9208640, Japan.
[Liang, Mingkun; Zhong, Jing; Nakada, Ryusuke; Yamauchi, Agnes-Mikiko] Kanazawa Univ, Grad Sch Med Sci, Dept Biophys Genet, Kanazawa, Ishikawa 9208640, Japan.
RP Higashida, H (reprint author), Kanazawa Univ, Res Ctr Child Mental Dev, Dept Basic Res Social Recognit & Memory, 13-1 Takara Machi, Kanazawa, Ishikawa 9208640, Japan.
EM haruhiro@med.kanazawa-u.ac.jp
FU Core Research for Evolutional Science and Technology (CREST) from the
Japan Science and Technology Agency; Strategic Research Program for
Brain Sciences from Ministry of Education, Culture, Sports, Science, and
Technology, Japan
FX This work was supported in part by the Core Research for Evolutional
Science and Technology (CREST) from the Japan Science and Technology
Agency and by the Strategic Research Program for Brain Sciences from
Ministry of Education, Culture, Sports, Science, and Technology, Japan.
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NR 65
TC 0
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD JUL 11
PY 2014
VL 8
AR 186
DI 10.3389/fnins.2014.00186
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AW8GE
UT WOS:000346498400001
PM 25071431
ER
PT J
AU Bacchelli, E
Ceroni, F
Pinto, D
Lomartire, S
Giannandrea, M
D'Adamo, P
Bonora, E
Parchi, P
Tancredi, R
Battaglia, A
Maestrini, E
AF Bacchelli, Elena
Ceroni, Fabiola
Pinto, Dalila
Lomartire, Silvia
Giannandrea, Maila
D'Adamo, Patrizia
Bonora, Elena
Parchi, Piero
Tancredi, Raffaella
Battaglia, Agatino
Maestrini, Elena
TI A CTNNA3 compound heterozygous deletion implicates a role for alpha
T-catenin in susceptibility to autism spectrum disorder
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); CTNNA3; alpha T-catenin; Alpha
T-catenin; Cell adhesion; DNA copy number variants
ID ONSET ALZHEIMERS-DISEASE; REPEAT TRANSMEMBRANE PROTEINS; GENOME-WIDE
ASSOCIATION; COPY NUMBER VARIATIONS; COMMON FRAGILE SITES; RARE DE-NOVO;
CELL-ADHESION; GENES; EXPRESSION; VARIANTS
AB Background: Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution.
Methods: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding alpha T-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse.
Results: The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development.
Conclusion: The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility.
C1 [Bacchelli, Elena; Ceroni, Fabiola; Lomartire, Silvia; Maestrini, Elena] Univ Bologna, Dept Pharm & Biotechnol, I-40126 Bologna, Italy.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Giannandrea, Maila; D'Adamo, Patrizia] Ist Sci San Raffaele, Div Neurosci, Dulbecco Telethon Inst, I-20132 Milan, Italy.
[D'Adamo, Patrizia] Univ Vita Salute San Raffaele, I-20132 Milan, Italy.
[Bonora, Elena] Univ Bologna, S Orsola Malpighi Hosp, Dept Med & Surg Sci, Unit Med Genet, I-40138 Bologna, Italy.
[Parchi, Piero] IRCCS Inst Neurol Sci, I-40139 Bologna, Italy.
[Parchi, Piero] Univ Bologna, Dept Biomed & Neuromotor Sci, I-40139 Bologna, Italy.
[Tancredi, Raffaella; Battaglia, Agatino] Stella Maris Clin Res Inst Child & Adolescent Neu, I-56128 Pisa, Italy.
RP Maestrini, E (reprint author), Univ Bologna, Dept Pharm & Biotechnol, Via Selmi 3, I-40126 Bologna, Italy.
EM elena.maestrini@unibo.it
FU University of Bologna (RFO)
FX We gratefully acknowledge all the families who have participated in the
study, the professionals who made this study possible and the
international Autism Genome Project (AGP) Consortium for sharing
pre-publication CTNNA3 CNV data and controls and for advice. We wish to
thank Jolanda van Hengel for providing the anti-alpha T-catenin
polyclonal antibody. Funding for this work comes from the University of
Bologna (RFO).
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NR 55
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD JUL 10
PY 2014
VL 6
AR 17
DI 10.1186/1866-1955-6-17
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AL6CG
UT WOS:000339219200001
PM 25050139
ER
PT J
AU Poliakov, E
Koonin, EV
Rogozin, IB
AF Poliakov, Eugenia
Koonin, Eugene V.
Rogozin, Igor B.
TI Impairment of translation in neurons as a putative causative factor for
autism
SO BIOLOGY DIRECT
LA English
DT Article
DE Synonymous mutations; Single nucleotide polymorphism; Codon usage;
Splicing enhancer; Splicing silencer; mRNA secondary structure;
Transcription factor binding; Neurotoxin
ID EXONIC SPLICING ENHANCERS; SYNONYMOUS CODON USAGE; HAZARDOUS
AIR-POLLUTANTS; RNA SECONDARY STRUCTURE; DE-NOVO MUTATIONS; SPECTRUM
DISORDERS; MOLECULAR CHAPERONES; PURIFYING SELECTION;
HUNTINGTONS-DISEASE; POSITIVE SELECTION
AB Background: A dramatic increase in the prevalence of autism and Autistic Spectrum Disorders (ASD) has been observed over the last two decades in USA, Europe and Asia. Given the accumulating data on the possible role of translation in the etiology of ASD, we analyzed potential effects of rare synonymous substitutions associated with ASD on mRNA stability, splicing enhancers and silencers, and codon usage.
Presentation of the hypothesis: We hypothesize that subtle impairment of translation, resulting in dosage imbalance of neuron-specific proteins, contributes to the etiology of ASD synergistically with environmental neurotoxins.
Testing the hypothesis: A statistically significant shift from optimal to suboptimal codons caused by rare synonymous substitutions associated with ASD was detected whereas no effect on other analyzed characteristics of transcripts was identified. This result suggests that the impact of rare codons on the translation of genes involved in neuron development, even if slight in magnitude, could contribute to the pathogenesis of ASD in the presence of an aggressive chemical background. This hypothesis could be tested by further analysis of ASD-associated mutations, direct biochemical characterization of their effects, and assessment of in vivo effects on animal models.
C1 [Poliakov, Eugenia] NEI, Retinal Cell & Mol Biol Lab, NIH, Bethesda, MD 20892 USA.
[Koonin, Eugene V.; Rogozin, Igor B.] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA.
RP Koonin, EV (reprint author), NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA.
EM koonin@ncbi.nlm.nih.gov; rogozin@ncbi.nlm.nih.gov
FU Intramural Research Program of the National Eye Institute; Intramural
Research Program of the National Library of Medicine at the National
Institutes of Health (US Department Health and Human Services)
FX This work was supported by the by the Intramural Research Program of the
National Eye Institute and the Intramural Research Program of the
National Library of Medicine at the National Institutes of Health (US
Department Health and Human Services).
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NR 124
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1745-6150
J9 BIOL DIRECT
JI Biol. Direct
PD JUL 10
PY 2014
VL 9
AR 16
DI 10.1186/1745-6150-9-16
PG 13
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AL3GX
UT WOS:000339016000001
PM 25011470
ER
PT J
AU Agam, Y
Vangel, M
Roffman, JL
Gallagher, PJ
Chaponis, J
Haddad, S
Goff, DC
Greenberg, JL
Wilhelm, S
Smoller, JW
Manoach, DS
AF Agam, Yigal
Vangel, Mark
Roffman, Joshua L.
Gallagher, Patience J.
Chaponis, Jonathan
Haddad, Stephen
Goff, Donald C.
Greenberg, Jennifer L.
Wilhelm, Sabine
Smoller, Jordan W.
Manoach, Dara S.
TI Dissociable Genetic Contributions to Error Processing: A Multimodal
Neuroimaging Study
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED FMRI; OBSESSIVE COMPULSIVE SCALE; DOPAMINE-D4 RECEPTOR
GENE; SURFACE-BASED ANALYSIS; HUMAN CEREBRAL-CORTEX;
METHYLENETETRAHYDROFOLATE REDUCTASE; ANTERIOR CINGULATE;
PARKINSONS-DISEASE; HEALTHY-VOLUNTEERS; PREFRONTAL CORTEX
AB Background: Neuroimaging studies reliably identify two markers of error commission: the error-related negativity (ERN), an event-related potential, and functional MRI activation of the dorsal anterior cingulate cortex (dACC). While theorized to reflect the same neural process, recent evidence suggests that the ERN arises from the posterior cingulate cortex not the dACC. Here, we tested the hypothesis that these two error markers also have different genetic mediation.
Methods: We measured both error markers in a sample of 92 comprised of healthy individuals and those with diagnoses of schizophrenia, obsessive-compulsive disorder or autism spectrum disorder. Participants performed the same task during functional MRI and simultaneously acquired magnetoencephalography and electroencephalography. We examined the mediation of the error markers by two single nucleotide polymorphisms: dopamine D4 receptor (DRD4) C-521T (rs1800955), which has been associated with the ERN and methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), which has been associated with error-related dACC activation. We then compared the effects of each polymorphism on the two error markers modeled as a bivariate response.
Results: We replicated our previous report of a posterior cingulate source of the ERN in healthy participants in the schizophrenia and obsessive-compulsive disorder groups. The effect of genotype on error markers did not differ significantly by diagnostic group. DRD4 C-521T allele load had a significant linear effect on ERN amplitude, but not on dACC activation, and this difference was significant. MTHFR C677T allele load had a significant linear effect on dACC activation but not ERN amplitude, but the difference in effects on the two error markers was not significant.
Conclusions: DRD4 C-521T, but not MTHFR C677T, had a significant differential effect on two canonical error markers. Together with the anatomical dissociation between the ERN and error-related dACC activation, these findings suggest that these error markers have different neural and genetic mediation.
C1 [Agam, Yigal; Roffman, Joshua L.; Goff, Donald C.; Greenberg, Jennifer L.; Wilhelm, Sabine; Smoller, Jordan W.; Manoach, Dara S.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Agam, Yigal; Vangel, Mark; Manoach, Dara S.] Harvard Univ, Sch Med, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA USA.
[Gallagher, Patience J.; Chaponis, Jonathan; Haddad, Stephen; Smoller, Jordan W.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Ctr Human Genet Res, Boston, MA USA.
RP Manoach, DS (reprint author), Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
EM dara@nmr.mgh.harvard.edu
FU NIH [F32 MH088081, K24MH094614, R01 MH67720]
FX This work was supported in part by NIH grants F32 MH088081 (YA);
K24MH094614 (JWS); and R01 MH67720 (DSM). The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 74
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 10
PY 2014
VL 9
IS 7
AR e101784
DI 10.1371/journal.pone.0101784
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK9RG
UT WOS:000338763800038
PM 25010186
ER
PT J
AU Budday, S
Raybaud, C
Kuhl, E
AF Budday, Silvia
Raybaud, Charles
Kuhl, Ellen
TI A mechanical model predicts morphological abnormalities in the
developing human brain
SO SCIENTIFIC REPORTS
LA English
DT Article
DE MECHANICAL ENGINEERING; COMPUTATIONAL BIOPHYSICS
ID SURFACE-BASED MORPHOMETRY; CEREBRAL-CORTEX; AXONAL ELONGATION; ADJOINING
SULCI; GROWTH; SCHIZOPHRENIA; GYRIFICATION; TISSUES; GYRUS; MRI
AB The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.
C1 [Budday, Silvia; Kuhl, Ellen] Stanford Univ, Dept Mech Engn, Stanford, CA 94305 USA.
[Raybaud, Charles] Hosp Sick Children, Div Neuroradiol, Toronto, ON M5G 1X8, Canada.
[Kuhl, Ellen] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA.
RP Kuhl, E (reprint author), Stanford Univ, Dept Mech Engn, Stanford, CA 94305 USA.
EM ekuhl@stanford.edu
RI Kuhl, Ellen/G-4444-2011
OI Kuhl, Ellen/0000-0002-6283-935X
FU National Science Foundation CAREER Award [CMMI 0952021]; National
Science Foundation INSPIRE Grant [1233054]; National Institutes of
Health [U54 GM072970]
FX This work was supported by the National Science Foundation CAREER Award
CMMI 0952021 and the INSPIRE Grant 1233054 and by the National
Institutes of Health Grant U54 GM072970 to E.K.
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GA AK9RF
UT WOS:000338763700006
PM 25008163
ER
PT J
AU Karayannis, T
Au, E
Patel, JC
Kruglikov, I
Markx, S
Delorme, R
Heron, D
Salomon, D
Glessner, J
Restituito, S
Gordon, A
Rodriguez-Murillo, L
Roy, NC
Gogos, JA
Rudy, B
Rice, ME
Karayiorgou, M
Hakonarson, H
Keren, B
Huguet, G
Bourgeron, T
Hoeffer, C
Tsien, RW
Peles, E
Fishell, G
AF Karayannis, T.
Au, E.
Patel, J. C.
Kruglikov, I.
Markx, S.
Delorme, R.
Heron, D.
Salomon, D.
Glessner, J.
Restituito, S.
Gordon, A.
Rodriguez-Murillo, L.
Roy, N. C.
Gogos, J. A.
Rudy, B.
Rice, M. E.
Karayiorgou, M.
Hakonarson, H.
Keren, B.
Huguet, G.
Bourgeron, T.
Hoeffer, C.
Tsien, R. W.
Peles, E.
Fishell, G.
TI Cntnap4 differentially contributes to GABAergic and dopaminergic
synaptic transmission
SO NATURE
LA English
DT Article
ID CORTICAL INTERNEURONS; GABA(A) RECEPTORS; PREPULSE INHIBITION;
TOURETTES-SYNDROME; SCHIZOPHRENIA; SYNAPSES; NUMBER; ASSOCIATION;
LINKAGE; RELEASE
AB Although considerable evidence suggests that the chemical synapse is a lynchpin underlying affective disorders, how molecular insults differentially affect specific synaptic connections remains poorly understood. For instance, Neurexin 1a and 2 (NRXN1 and NRXN2) and CNTNAP2 (also known as CASPR2), all members of the neurexin superfamily of transmembrane molecules, have been implicated in neuropsychiatric disorders. However, their loss leads to deficits that have been best characterized with regard to their effect on excitatory cells(1,2). Notably, other disease-associated genes such as BDNF and ERBB4 implicate specific interneuron synapses in psychiatric disorders(3,4). Consistent with this, cortical interneuron dysfunction has been linked to epilepsy, schizophrenia and autism(5,6). Using a microarray screen that focused upon synapse-associated molecules, we identified Cntnap4 (contactin associated protein-like 4, also known as Caspr4) as highly enriched in developing murine interneurons. In this study we show that Cntnap4 is localized presynaptically and its loss leads to a reduction in the output of cortical parvalbumin (PV)-positive GABAergic (gamma-aminobutyric acid producing) basket cells. Paradoxically, the loss of Cntnap4 augments midbrain dopaminergic release in the nucleus accumbens. In Cntnap4 mutant mice, synaptic defects in these disease-relevant neuronal populations are mirrored by sensory-motor gating and grooming endophenotypes; these symptoms could be pharmacologically reversed, providing promise for therapeutic intervention in psychiatric disorders.
C1 [Karayannis, T.; Au, E.; Kruglikov, I.; Restituito, S.; Roy, N. C.; Rudy, B.; Hoeffer, C.; Tsien, R. W.; Fishell, G.] NYU, Dept Neurosci & Physiol, Neurosci Inst, New York, NY 10016 USA.
[Patel, J. C.; Rice, M. E.] NYU, Dept Neurosurg Neurosci & Physiol, Langone Med Ctr, New York, NY 10016 USA.
[Markx, S.; Rodriguez-Murillo, L.; Karayiorgou, M.] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA.
[Delorme, R.; Hakonarson, H.; Huguet, G.; Bourgeron, T.] Inst Pasteur, Human Genet & Cognit Funct Unit, F-75724 Paris, France.
[Delorme, R.; Huguet, G.; Bourgeron, T.] Inst Pasteur, URA Genes Synapses & Cognit 2182, CNRS, F-75724 Paris, France.
[Delorme, R.] Hop Robert Debre, AP HP, Dept Child & Adolescent Psychiat, F-75019 Paris, France.
[Heron, D.] Grp Hosp Pitie Salpetriere, AP HP, Unite Fonct Genet Med, Dept Genet & Cytogenet,Ctr Reference,CRicm,UMR S9, F-75013 Paris, France.
[Salomon, D.; Gordon, A.] Weizmann Inst Sci, Dept Mol Cell Biol, IL-76100 Rehovot, Israel.
[Glessner, J.] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Roy, N. C.] Natl Inst Deafness & Other Commun Disorders, Sect Synapt Transmiss, NIH, Bethesda, MD 20892 USA.
[Gogos, J. A.] Columbia Univ, Med Ctr, Dept Physiol, New York, NY 10032 USA.
[Gogos, J. A.] Columbia Univ, Med Ctr, Dept Cellular Biophys & Neurosci, New York, NY 10032 USA.
[Keren, B.] Grp Hosp Pitie Salpetriere, AP HP, Unite Fonct Genet Chromosom, Dept Genet & Cytogenet,CRicm,UMR S975, F-75013 Paris, France.
[Huguet, G.; Bourgeron, T.] Univ Paris Diderot, Sorbonne Paris Cite, F-75005 Paris, France.
[Bourgeron, T.] FondaMental Fdn, F-94000 Creteil, France.
RP Fishell, G (reprint author), NYU, Dept Neurosci & Physiol, Neurosci Inst, New York, NY 10016 USA.
EM gordon.fishell@med.nyu.edu
RI Karayannis, Theofanis/O-5194-2014
FU NIH [R01 NS081297, R01 MH071679, R01 NS074972, P01 NS074972, R01
NS036362, R01 DA033811, NS30989, NS50220]; Simons Foundation [94534];
Attilio and Olympia Ricciardi Research Fund; Israel Science Foundation;
Patterson Trust; Roche; New York State through its NYSTEM initiative
[C024326]; Canadian Institutes of Health Research; NYU COE Addiction
Seed Grant; Institut Pasteur; INSERM; AP-HP; University Paris Diderot;
Bettencourt-Schueller foundation; Orange foundation; FondaMental
foundation; Conny-Maeva foundation; Cognacq-Jay foundation
FX The authors are grateful to R. Froemke for critically reading the
manuscript, to B. Benedetti, M. McKenzie Chang, L. Cobbs, B. A. Heller,
T. Petros and N. Yumoto (all NYU) for help with experiments and analysis
and to Charles Nicholson (NYU) for providing specialized software to
analyse Vmax. Research in the Fishell laboratory is supported by the NIH
(grants R01 NS081297, R01 MH071679, R01 NS074972, P01 NS074972 to B. R.
and G. F.) and the Simons Foundation (94534). The Rice laboratory is
supported by the NIH (grants R01 NS036362 and R01 DA033811) and the
Attilio and Olympia Ricciardi Research Fund. The Rudy laboratory is
supported by the NIH (NS30989). The Peles laboratory is supported by the
NIH (grant NS50220) and the Israel Science Foundation. T. K. support was
provided through postdoctoral fellowships from the Patterson Trust and
Roche. E. A. support was provided by New York State through its NYSTEM
initiative (C024326) and fellowship from Canadian Institutes of Health
Research. J.C.P support was provided by NYU COE Addiction Seed Grant.
This work was funded by the Institut Pasteur, INSERM, AP-HP, University
Paris Diderot and the Bettencourt-Schueller, Orange, FondaMental,
Conny-Maeva, Cognacq-Jay foundations.
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TC 5
Z9 5
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JUL 10
PY 2014
VL 511
IS 7508
BP 236
EP +
DI 10.1038/nature13248
PG 19
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK8AP
UT WOS:000338649800047
PM 24870235
ER
PT J
AU Gallagher, S
AF Gallagher, Shaun
TI In your face: transcendence in embodied interaction
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE interaction; face; ethics; transcendence; Levinas
ID MOBIUS SEQUENCE; IMITATION; RECOGNITION; PERCEPTION; INFANTS; NEWBORNS;
MEMORY
AB In cognitive psychology, studies concerning the face tend to focus on questions about face recognition, theory of mind (ToM) and empathy. Questions about the face, however, also fit into a very different set of issues that are central to ethics. Based especially on the work of Levinas, philosophers have come to see that reference to the face of another person can anchor conceptions of moral responsibility and ethical demand. Levinas points to a certain irreducibility and transcendence implicit in the face of the other. In this paper I argue that the notion of transcendence involved in this kind of analysis can be given a naturalistic interpretation by drawing on recent interactive approaches to social cognition found in developmental psychology, phenomenology, and the study of autism.
C1 [Gallagher, Shaun] Memphis State Univ, Dept Philosophy, Memphis, TN 38152 USA.
[Gallagher, Shaun] Univ Hertfordshire, Sch Humanities, Dept Philosophy, Hatfield AL10 9AB, Herts, England.
[Gallagher, Shaun] Univ Wollongong, Fac Law Humanities & Arts, Dept Philosophy, Wollongong, NSW, Australia.
RP Gallagher, S (reprint author), Memphis State Univ, Dept Philosophy, 331 Clement Hall, Memphis, TN 38152 USA.
EM s.gallagher@memphis.edu
FU Marie-Curie Initial Training Network, TESIS: toward an Embodied Science
of Inter Subjectivity [PEOPLE-2010-ITN, 264828]; Humboldt Foundation,
Anneliese Maier Research Award
FX This work is supported the Marie-Curie Initial Training Network," TESIS:
toward an Embodied Science of Inter Subjectivity" (FP7-PEOPLE-2010-ITN,
264828), and the Humboldt Foundation, Anneliese Maier Research Award. An
earlier version of this paper was presented at the Workshop on Other
Minds. St. Hilda's College, Oxford University (12 March 2013).
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NR 66
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JUL 9
PY 2014
VL 8
AR 495
DI 10.3389/fnhum.2014.00495
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7OO
UT WOS:000340057400001
PM 25071523
ER
PT J
AU Sansone, SM
Schneider, A
Bickel, E
Berry-Kravis, E
Prescott, C
Hessl, D
AF Sansone, Stephanie M.
Schneider, Andrea
Bickel, Erika
Berry-Kravis, Elizabeth
Prescott, Christina
Hessl, David
TI Improving IQ measurement in intellectual disabilities using true
deviation from population norms
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE IQ; Intellectual disability; Autism spectrum disorder; Fragile X
syndrome; Cognitive assessment
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS;
COGNITIVE-ABILITIES; MENTAL-RETARDATION; AUTISM; INTELLIGENCE; CHILDREN;
INDIVIDUALS; CARRIERS
AB Background: Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals.
Methods: We describe the development and validation of a method of raw z-score transformation (based on general population norms) that ameliorates floor effects and improves the precision of IQ measurement in ID using the Stanford Binet 5 (SB5) in fragile X syndrome (FXS; n = 106), the leading inherited cause of ID, and in individuals with idiopathic autism spectrum disorder (ASD; n = 205). We compared the distributional characteristics and Q-Q plots from the standardized scores with the deviation z-scores. Additionally, we examined the relationship between both scoring methods and multiple criterion measures.
Results: We found evidence that substantial and meaningful variation in cognitive ability on standardized IQ tests among individuals with ID is lost when converting raw scores to standardized scaled, index and IQ scores. Use of the deviation z-score method rectifies this problem, and accounts for significant additional variance in criterion validation measures, above and beyond the usual IQ scores. Additionally, individual and group-level cognitive strengths and weaknesses are recovered using deviation scores.
Conclusion: Traditional methods for generating IQ scores in lower functioning individuals with ID are inaccurate and inadequate, leading to erroneously flat profiles. However assessment of cognitive abilities is substantially improved by measuring true deviation in performance from standardization sample norms. This work has important implications for standardized test development, clinical assessment, and research for which IQ is an important measure of interest in individuals with neurodevelopmental disorders and other forms of cognitive impairment.
C1 [Sansone, Stephanie M.; Schneider, Andrea; Bickel, Erika; Hessl, David] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth; Prescott, Christina] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Schneider, Andrea] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA.
RP Hessl, D (reprint author), Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM david.hessl@ucdmc.ucdavis.edu
FU National Institute of Mental Health [1U24MH081810]; UC Davis School of
Medicine Office; National Fragile X Foundation
FX We gratefully acknowledge the resources provided by the Autism Genetic
Resource Exchange (AGRE) Consortium and the participating AGRE families.
The Autism Genetic Resource Exchange is a program of Autism Speaks and
is supported, in part, by grant 1U24MH081810 from the National Institute
of Mental Health to Clara M Lajonchere (PI). We thank Gale Roid (lead
author of the SB5), Elizabeth Allen (Director of Research and
Development at PRO-ED, Inc.), Ryan Butler and Tiffany Torigoe (AGRE),
and Shrikant Pandya (data entry at Rush). The UC Davis School of
Medicine Office of the Dean and a philanthropic donation from the
Fragile X LINKS Group of Greater Chicago in conjunction with the
National Fragile X Foundation supported this work.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Backes M, 2000, AM J MED GENET, V95, P150
Ben IE, 2008, RES DEV DISABIL, V29, P447
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NR 30
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD JUL 8
PY 2014
VL 6
AR 16
DI 10.1186/1866-1955-6-16
PG 14
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA CC5ZL
UT WOS:000350444000001
ER
PT J
AU Schreiber, JM
Lanham, DC
Trescher, WH
Sparks, SE
Wassif, CA
Caffo, BS
Porter, FD
Tierney, E
Gropman, AL
Ewen, JB
AF Schreiber, John M.
Lanham, Diane C.
Trescher, William H.
Sparks, Susan E.
Wassif, Christopher A.
Caffo, Brian S.
Porter, Forbes D.
Tierney, Elaine
Gropman, Andrea L.
Ewen, Joshua B.
TI Variations in EEG discharges predict ADHD severity within individual
Smith-Lemli-Opitz patients
SO NEUROLOGY
LA English
DT Article
ID INTERICTAL EEG; EPILEPSY; CHILDREN; ABNORMALITIES; DIAGNOSIS
AB Objective: We sought to examine the prevalence of EEG abnormalities in Smith-Lemli-Opitz syndrome (SLOS) as well as the relationship between interictal epileptiform discharges (IEDs) and within-subject variations in attentional symptom severity.
Methods: In the context of a clinical trial for SLOS, we performed cross-sectional and repeated-measure observational studies of the relationship between EEG findings and cognitive/behavioral factors on 23 children (aged 4-17 years). EEGs were reviewed for clinical abnormalities, including IEDs, by readers blinded to participants' behavioral symptoms. Between-group differences in baseline characteristics of participants with and without IEDs were analyzed. Within-subject analyses examined the association between the presence of IEDs and changes in attention-deficit/hyperactivity disorder (ADHD) symptoms.
Results: Of 85 EEGs, 43 (51%) were abnormal, predominantly because of IEDs. Only one subject had documented clinical seizures. IEDs clustered in 13 subjects (57%), whereas 9 subjects (39%) had EEGs consistently free of IEDs. While there were no significant group differences in sex, age, intellectual disability, language level, or baseline ADHD symptoms, autistic symptoms tended to be more prevalent in the "IED" group (according to Autism Diagnostic Observation Schedule-2 criteria). Within individuals, the presence of IEDs on a particular EEG predicted, on average, a 27% increase in ADHD symptom severity.
Conclusions: Epileptiform discharges are common in SLOS, despite a relatively low prevalence of epilepsy. Fluctuations in the presence of epileptiform discharges within individual children with a developmental disability syndrome may be associated with fluctuations in ADHD symptomatology, even in the absence of clinical seizures.
C1 [Schreiber, John M.] NINDS, EEG Sect, NIH, Bethesda, MD 20892 USA.
[Sparks, Susan E.; Gropman, Andrea L.] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA.
[Wassif, Christopher A.] NICHD, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USA.
[Lanham, Diane C.; Tierney, Elaine] Kennedy Krieger Inst, Dept Child & Adolescent Psychiat, Baltimore, MD USA.
[Trescher, William H.; Ewen, Joshua B.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
[Trescher, William H.; Ewen, Joshua B.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Tierney, Elaine] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Trescher, William H.; Porter, Forbes D.] Penn State Hershey Childrens Hosp, Dept Pediat Neurol, Hershey, PA USA.
[Caffo, Brian S.] Johns Hopkins Univ, Sch Publ Hlth, Dept Biostat, Baltimore, MD USA.
[Gropman, Andrea L.] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA.
[Gropman, Andrea L.] George Washington Univ Hlth Sci, Washington, DC USA.
RP Ewen, JB (reprint author), Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
EM Ewen@kennedykrieger.org
FU Autism Speaks; Eunice Kennedy Shriver National Institute of Child Health
and Human Development (NICHD); Kennedy Krieger/Johns Hopkins NICHD
Intellectual and Developmental Disabilities Research Center core grant
[P30 HD024061]; National Center for Advancing Translational Sciences
(NCATS), a component of the NIH [UL1 TR 000424-06]; NIH Roadmap for
Medical Research; Bench to Bedside award from the Office of Rare
Diseases; NIH Clinical Center; NICHD; National Institute of Neurological
Disorders and Stroke/NIH [K23 NS073626]
FX This research was supported by Autism Speaks, the intramural research
program of the Eunice Kennedy Shriver National Institute of Child Health
and Human Development (NICHD), and by the Kennedy Krieger/Johns Hopkins
NICHD Intellectual and Developmental Disabilities Research Center core
grant P30 HD024061. This publication was made possible by the Johns
Hopkins Institute for Clinical and Translational Research (ICTR), which
is funded in part by grant UL1 TR 000424-06 from the National Center for
Advancing Translational Sciences (NCATS), a component of the NIH, and
NIH Roadmap for Medical Research. Its contents are solely the
responsibility of the authors and do not necessarily represent the
official view of the Johns Hopkins ICTR, NCATS, or NIH. This project was
also supported by a Bench to Bedside award to F. D. P. from the Office
of Rare Diseases, NIH Clinical Center, and NICHD; and by National
Institute of Neurological Disorders and Stroke/NIH grant K23 NS073626
awarded to J.B.E.
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NR 30
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0028-3878
EI 1526-632X
J9 NEUROLOGY
JI Neurology
PD JUL 8
PY 2014
VL 83
IS 2
BP 151
EP 159
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AM8EI
UT WOS:000340103400041
PM 24920862
ER
PT J
AU Jeste, SS
Wu, JY
Senturk, D
Varcin, K
Ko, J
McCarthy, B
Shimizu, C
Dies, K
Vogel-Farley, V
Sahin, M
Nelson, CA
AF Jeste, Shafali Spurling
Wu, Joyce Y.
Senturk, Damla
Varcin, Kandice
Ko, Jordan
McCarthy, Brigid
Shimizu, Christina
Dies, Kira
Vogel-Farley, Vanessa
Sahin, Mustafa
Nelson, Charles A., III
TI Early developmental trajectories associated with ASD in infants with
tuberous sclerosis complex
SO NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; SEIZURE
ONSET; BABY SIBLINGS; CHILDREN; EPILEPSY; RISK
AB Objective: We performed a longitudinal cohort study of infants with tuberous sclerosis complex (TSC), with the overarching goal of defining early clinical, behavioral, and biological markers of autism spectrum disorder (ASD) in this high-risk population.
Methods: Infants with TSC and typically developing controls were recruited as early as 3 months of age and followed longitudinally until 36 months of age. Data gathered at each time point included detailed seizure history, developmental testing using the Mullen Scales of Early Learning, and social-communication assessments using the Autism Observation Scale for Infants. At 18 to 36 months, a diagnostic evaluation for ASD was performed using the Autism Diagnostic Observation Schedule.
Results: Infants with TSC demonstrated delays confined to nonverbal abilities, particularly in the visual domain, which then generalized to more global delays by age 9 months. Twenty-two of 40 infants with TSC were diagnosed with ASD. Both 12-month cognitive ability and developmental trajectories over the second and third years of life differentiated the groups. By 12 months of age, the ASD group demonstrated significantly greater cognitive delays and a significant decline in nonverbal IQ from 12 to 36 months.
Conclusions: This prospective study characterizes early developmental markers of ASD in infants with TSC. The early delay in visual reception and fine motor ability in the TSC group as a whole, coupled with the decline in nonverbal ability in infants diagnosed with ASD, suggests a domain-specific pathway to ASD that can inform more targeted interventions for these high-risk infants.
C1 [Jeste, Shafali Spurling; Ko, Jordan; McCarthy, Brigid; Shimizu, Christina] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat, Los Angeles, CA 90024 USA.
[Jeste, Shafali Spurling] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Neurol, Los Angeles, CA 90024 USA.
[Wu, Joyce Y.] Univ Calif Los Angeles, Mattel Childrens Hosp, Div Pediat Neurol, Los Angeles, CA USA.
[Senturk, Damla] Univ Calif Los Angeles, Sch Publ Hlth, Dept Biostat, Los Angeles, CA 90024 USA.
[Varcin, Kandice; Vogel-Farley, Vanessa; Nelson, Charles A., III] Harvard Univ, Sch Med, Boston Childrens Hosp, Labs Cognit Neurosci, Boston, MA USA.
[Dies, Kira] Harvard Univ, Sch Med, Dept Neurol, Div Dev Med,Boston Childrens Hosp, Boston, MA 02115 USA.
[Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA USA.
Harvard Univ, Sch Med, Dept Neurol, Boston Childrens Hosp, Boston, MA 02115 USA.
RP Jeste, SS (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat, Los Angeles, CA 90024 USA.
EM Sjeste@mednet.ucla.edu
FU Department of Defense (DOD CDMRP TSCRP); UCLA CTSI [UL1RR033176]
FX Supported by the Department of Defense (DOD CDMRP TSCRP: 2011-2014) and
UCLA CTSI (UL1RR033176).
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NR 34
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0028-3878
EI 1526-632X
J9 NEUROLOGY
JI Neurology
PD JUL 8
PY 2014
VL 83
IS 2
BP 160
EP 168
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AM8EI
UT WOS:000340103400042
ER
PT J
AU Castro, J
Garcia, RI
Kwok, S
Banerjee, A
Petravicz, J
Woodson, J
Mellios, N
Tropea, D
Sur, M
AF Castro, Jorge
Garcia, Rodrigo I.
Kwok, Showming
Banerjee, Abhishek
Petravicz, Jeremy
Woodson, Jonathan
Mellios, Nikolaos
Tropea, Daniela
Sur, Mriganka
TI Functional recovery with recombinant human IGF1 treatment in a mouse
model of Rett Syndrome
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE molecular therapeutic; respiration; synaptic function; male mice; female
mice
ID GROWTH-FACTOR-I; AUTISM SPECTRUM DISORDERS; MECP2 MUTANT MICE;
RESPIRATORY-FUNCTION; SYNDROME PHENOTYPES; BRAIN; NEURONS; PLASTICITY;
DEFICITS; INACTIVATION
AB Rett Syndrome is a neurodevelopmental disorder that arises from mutations in the X-linked gene methyl-CpG binding protein 2 (MeCP2). MeCP2 has a large number of targets and a wide range of functions, suggesting the hypothesis that functional signaling mechanisms upstream of synaptic and circuit maturation may contribute to our understanding of the disorder and provide insight into potential treatment. Here, we show that insulin-like growth factor-1 (IGF1) levels are reduced in young male Mecp2-null (Mecp2(-/y)) mice, and systemic treatment with recombinant human IGF1 (rhIGF1) improves lifespan, locomotor activity, heart rate, respiration patterns, and social and anxiety behavior. Furthermore, Mecp2-null mice treated with rhIGF1 show increased synaptic and activated signaling pathway proteins, enhanced cortical excitatory synaptic transmission, and restored dendritic spine densities. IGF1 levels are also reduced in older, fully symptomatic heterozygous (Mecp2(-/+)) female mice, and short-term treatment with rhIGF1 in these animals improves respiratory patterns, reduces anxiety levels, and increases exploratory behavior. In addition, rhIGF1 treatment normalizes abnormally prolonged plasticity in visual cortex circuits of adult Mecp2(-/+) female mice. Our results provide characterization of the phenotypic development of Rett Syndrome in a mouse model at the molecular, circuit, and organismal levels and demonstrate a mechanism-based therapeutic role for rhIGF1 in treating Rett Syndrome.
C1 [Castro, Jorge; Garcia, Rodrigo I.; Kwok, Showming; Banerjee, Abhishek; Petravicz, Jeremy; Woodson, Jonathan; Mellios, Nikolaos; Sur, Mriganka] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[Tropea, Daniela] St James Hosp, Trinity Ctr Hlth Sci, Neuropsychiat Genet Dept, Dublin D8, Ireland.
RP Sur, M (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, E25-618, Cambridge, MA 02139 USA.
EM msur@mit.edu
FU National Science Foundation [2388357]; Simons Center for the Social
Brain; National Institutes of Health; Simons Foundation
FX We thank Alexandra Clemente and Jitendra Sharma, along with members of
the M. S. laboratory, for technical assistance. This work was supported
by National Science Foundation Graduate Research Fellowship 2388357 (to
R. I. G.), a postdoctoral fellowship from the Simons Center for the
Social Brain (to S. K. and A. B.), and grants from the National
Institutes of Health and the Simons Foundation (to M.S.).
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NR 56
TC 5
Z9 7
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD JUL 8
PY 2014
VL 111
IS 27
BP 9941
EP 9946
DI 10.1073/pnas.1311685111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK6CH
UT WOS:000338514800056
PM 24958891
ER
PT J
AU Wesseling, H
Guest, PC
Lee, CM
Wong, EHF
Rahmoune, H
Bahn, S
AF Wesseling, Hendrik
Guest, Paul C.
Lee, Chi-Ming
Wong, Erik H. F.
Rahmoune, Hassan
Bahn, Sabine
TI Integrative proteomic analysis of the NMDA NR1 knockdown mouse model
reveals effects on central and peripheral pathways associated with
schizophrenia and autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE ApoA1; Glutamate; Leptin; Major depressive disorder; Oligodendrocytes;
Proteomics; Serum biomarkers; SRMstats
ID GROWTH-FACTOR-I; HIPPOCAMPAL SYNAPTIC PLASTICITY; KINASE SUBSTRATE
MARCKS; PHENCYCLIDINE RAT MODEL; APOLIPOPROTEIN-A-I;
CEREBROSPINAL-FLUID; RECEPTOR FUNCTION; ANTIPSYCHOTIC-DRUGS; BRAIN
ABNORMALITIES; PREFRONTAL CORTEX
AB Background: Over the last decade, the transgenic N-methyl-D-aspartate receptor (NMDAR) NR1-knockdown mouse (NR1(neo-/-)) has been investigated as a glutamate hypofunction model for schizophrenia. Recent research has now revealed that the model also recapitulates cognitive and negative symptoms in the continuum of other psychiatric diseases, particularly autism spectrum disorders (ASD). As previous studies have mostly focussed on behavioural readouts, a molecular characterisation of this model will help to identify novel biomarkers or potential drug targets.
Methods: Here, we have used multiplex immunoassay analyses to investigate peripheral analyte alterations in serum of NR1(neo-/-) mice, as well as a combination of shotgun label-free liquid chromatography mass spectrometry, bioinformatic pathway analyses, and a shotgun-based 40-plex selected reaction monitoring (SRM) assay to investigate altered molecular pathways in the frontal cortex and hippocampus. All findings were cross compared to identify translatable findings between the brain and periphery.
Results: Multiplex immunoassay profiling led to identification of 29 analytes that were significantly altered in sera of NR1(neo-/-) mice. The highest magnitude changes were found for neurotrophic factors (VEGFA, EGF, IGF-1), apolipoprotein A1, and fibrinogen. We also found decreased levels of several chemokines. Following this, LC-MSE profiling led to identification of 48 significantly changed proteins in the frontal cortex and 41 in the hippocampus. In particular, MARCS, the mitochondrial pyruvate kinase, and CamKII-alpha were affected. Based on the combination of protein set enrichment and bioinformatic pathway analysis, we designed orthogonal SRM-assays which validated the abnormalities of proteins involved in synaptic long-term potentiation, myelination, and the ERK-signalling pathway in both brain regions. In contrast, increased levels of proteins involved in neurotransmitter metabolism and release were found only in the frontal cortex and abnormalities of proteins involved in the purinergic system were found exclusively in the hippocampus.
Conclusions: Taken together, this multi-platform profiling study has identified peripheral changes which are potentially linked to central alterations in synaptic plasticity and neuronal function associated with NMDAR-NR1 hypofunction. Therefore, the reported proteomic changes may be useful as translational biomarkers in human and rodent model drug discovery efforts.
C1 [Wesseling, Hendrik; Guest, Paul C.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge CB2 1QT, England.
[Lee, Chi-Ming; Wong, Erik H. F.] AstraZeneca, Wilmington, DE 19850 USA.
[Bahn, Sabine] Erasmus MC, Dept Neurosci, NL-3000 CA Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Dept Chem Engn & Biotechnol, Tennis Court Rd, Cambridge CB2 1QT, England.
EM sb209@cam.ac.uk
FU Stanley Medical Research Institute (SMRI); Innovative Medicines
Initiative for Novel Methods leading to New Medications in Depression
and Schizophrenia (IMI NEWMEDS); Dutch Fund for Economic Structure
Reinforcement [0908]; Autism Speaks grant [6009]
FX This research was kindly supported by the Stanley Medical Research
Institute (SMRI), the Innovative Medicines Initiative for Novel Methods
leading to New Medications in Depression and Schizophrenia (IMI
NEWMEDS), the Dutch Fund for Economic Structure Reinforcement ((#0908)
the NeuroBasic PharmaPhenomics project), and the Autism Speaks grant
(#6009). Additional information is available at Molecular Autism's
website.
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NR 119
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 4
PY 2014
VL 5
AR 38
DI 10.1186/2040-2392-5-38
PG 17
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AM0YX
UT WOS:000339574700001
PM 25061506
ER
PT J
AU Kushki, A
Brian, J
Dupuis, A
Anagnostou, E
AF Kushki, Azadeh
Brian, Jessica
Dupuis, Annie
Anagnostou, Evdokia
TI Functional autonomic nervous system profile in children with autism
spectrum disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Autonomic nervous system; Heart rate;
Respiratory sinus arrhythmia
ID RESPIRATORY SINUS ARRHYTHMIA; HEART-RATE-VARIABILITY;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; ASPERGER-SYNDROME; SUSTAINED
ATTENTION; ANXIETY DISORDERS; RESPONSE-INHIBITION; REVISED VERSION;
SOCIAL ANXIETY; AMYGDALA
AB Background: Autonomic dysregulation has been recently reported as a feature of autism spectrum disorder (ASD). However, the nature of autonomic atypicalities in ASD remain largely unknown. The goal of this study was to characterize the cardiac autonomic profile of children with ASD across four domains affected in ASD (anxiety, attention, response inhibition, and social cognition), and suggested to be affected by autonomic dysregulation.
Methods: We compared measures of autonomic cardiac regulation in typically developing children (n = 34) and those with ASD (n = 40) as the children performed tasks eliciting anxiety, attention, response inhibition, and social cognition. Heart rate was used to quantify overall autonomic arousal, and respiratory sinus arrhythmia (RSA) was used as an index of vagal influences. Associations between atypical autonomic findings and intellectual functioning (Weschler scale), ASD symptomatology (Social Communication Questionnaire score), and co-morbid anxiety (Revised Children's Anxiety and Depression Scale) were also investigated.
Results: The ASD group had marginally elevated basal heart rate, and showed decreased heart rate reactivity to social anxiety and increased RSA reactivity to the social cognition task. In this group, heart rate reactivity to the social anxiety task was positively correlated with IQ and task performance, and negatively correlated with generalized anxiety. RSA reactivity in the social cognition task was positively correlated with IQ.
Conclusions: Our data suggest overall autonomic hyperarousal in ASD and selective atypical reactivity to social tasks.
C1 [Kushki, Azadeh; Brian, Jessica; Anagnostou, Evdokia] Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Kushki, Azadeh] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON M5S 3G9, Canada.
[Dupuis, Annie] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
RP Kushki, A (reprint author), Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM akushki@hollandbloorview.ca
FU Ontario government
FX This research was conducted with the support of the Ontario Brain
Institute, an independent non-profit corporation, funded partially by
the Ontario government. The opinions, results, and conclusions are those
of the authors, and no endorsement by the Ontario Brain Institute is
intended or should be inferred. We would like to thank Krissy
Doyle-Thomas, Seth Sobel, Danielle D'Alessandro, Tom Nantis, Susan Day
Fragiadakis, Naomi Sklar, and Johnny Au for their contributions to the
study.
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NR 73
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 4
PY 2014
VL 5
AR 39
DI 10.1186/2040-2392-5-39
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL4AS
UT WOS:000339075800001
PM 25031832
ER
PT J
AU Keita, L
Guy, J
Berthiaume, C
Mottron, L
Bertone, A
AF Keita, Luc
Guy, Jacalyn
Berthiaume, Claude
Mottron, Laurent
Bertone, Armando
TI An early origin for detailed perception in Autism Spectrum Disorder:
biased sensitivity for high-spatial frequency information.
SO SCIENTIFIC REPORTS
LA English
DT Article
ID HIGH-FUNCTIONING INDIVIDUALS; VISUAL-ACUITY; CONTRAST SENSITIVITY; GABA
CONCENTRATION; ASPERGER-SYNDROME; DISCRIMINATION; CORTEX; BRAIN;
PERFORMANCE; MECHANISMS
AB Autistics demonstrate superior performances on several visuo-spatial tasks where local or detailed information processing is advantageous. Altered spatial filtering properties at an early level of visuo-spatial analysis may be a plausible perceptual origin for such detailed perception in Autism Spectrum Disorder. In this study, contrast sensitivity for both luminance and texture-defined vertically-oriented sine-wave gratings were measured across a range of spatial frequencies (0.5, 1, 2, 4 & 8 cpd) for autistics and non-autistic participants. Contrast sensitivity functions and peak frequency ratios were plotted and compared across groups. Results demonstrated that autistic participants were more sensitivity to luminance-defined, high spatial frequency gratings (8 cpd). A group difference in peak distribution was also observed as 35% of autistic participants manifested peak sensitivity for luminance-defined gratings of 4 cpd, compared to only 7% for the comparison group. These findings support that locally-biased perception in Autism Spectrum Disorder originates, at least in part, from differences in response properties of early spatial mechanisms favouring detailed spatial information processing.
C1 [Keita, Luc] Univ Montreal, Ctr Rech Neuropsychol & Cognit CERNEC, Montreal, PQ H3C 3J7, Canada.
[Guy, Jacalyn; Bertone, Armando] McGill Univ, Perceptual Neurosci Lab Autism & Dev, Montreal, PQ H3A 2T5, Canada.
[Guy, Jacalyn] McGill Univ, Integrated Program Neurosci, Montreal, PQ H3A 2T5, Canada.
[Berthiaume, Claude; Mottron, Laurent; Bertone, Armando] Univ Montreal, Ctr Excellence Pervas Dev Disorders CETEDUM, Montreal, PQ H3C 3J7, Canada.
[Berthiaume, Claude; Mottron, Laurent; Bertone, Armando] Univ Montreal, Dept Psychiat, Montreal, PQ H3C 3J7, Canada.
[Bertone, Armando] McGill Univ, Sch Appl Child Psychol, Dept Educ & Counselling Psychol, Montreal, PQ H3A 2T5, Canada.
RP Bertone, A (reprint author), McGill Univ, Perceptual Neurosci Lab Autism & Dev, Montreal, PQ H3A 2T5, Canada.
EM armando.bertone@mcgill.ca
FU Autism Speaks mentor-based fellowship; Canadian Institute for Health
Research operating Grant
FX This study was supported by funding from an Autism Speaks mentor-based
(L.M. and A.B.) fellowship to L.K. and a Canadian Institute for Health
Research operating Grant to L.M. and A.B. We thank all the participants
for their involvement in this project.
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NR 50
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD JUL 4
PY 2014
VL 4
AR 5475
DI 10.1038/srep05475
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AK5ZL
UT WOS:000338506000001
PM 24993026
ER
PT J
AU Troyb, E
Rosenthal, M
Eigsti, IM
Kelley, E
Tyson, K
Orinstein, A
Barton, M
Fein, D
AF Troyb, Eva
Rosenthal, Michael
Eigsti, Inge-Marie
Kelley, Elizabeth
Tyson, Katherine
Orinstein, Alyssa
Barton, Marianne
Fein, Deborah
TI Executive functioning in individuals with a history of ASDs who have
achieved optimal outcomes
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Outcome; Executive functioning; Optimal outcome; High-functioning
autism; Autism
ID AUTISTIC-CHILDREN; FOLLOW-UP; BEHAVIORAL TREATMENT; SPECTRUM DISORDERS;
ABOVE-AVERAGE; INTELLIGENCE; AGE; COMMUNICATION; INTERVENTION;
PERFORMANCE
AB Executive functioning (EF) is examined among children and adolescents once diagnosed with an autism spectrum disorder (ASD), but who no longer meet diagnostic criteria. These individuals have average social and language skills, receive minimal school support and are considered to have achieved "optimal outcomes" (OOs). Since residual impairments in these individuals might be expected in deficits central to autism, and in developmentally advanced skills, EF was examined in 34 individuals who achieved OOs, 43 individuals with high-functioning autism (HFA), and 34 typically developing (TD) peers. Groups were matched on age (M = 13.49), gender, and nonverbal IQ (NVIQ) but differed on verbal IQ (VIQ; HFA < TD, OO). On direct assessment, all three groups demonstrated average EF; however, the OO and HFA groups exhibited more impulsivity and less efficient planning and problem-solving than the TD group, and more HFA participants exhibited below average inhibition than did OO and TD participants. Parent-report measures revealed average EF among the OO and TD groups; however, the OO group exhibited more difficulty than the TD group on set-shifting and working memory. HFA participants demonstrated more difficulty on all parent-reported EF domains, with a clinical impairment in attention-shifting. Results suggest that EF in OO appears to be within the average range, even for functions that were impaired among individuals with HFA. Despite their average performance, however, the OO and TD groups differed on measures of impulsivity, set-shifting, problem-solving, working memory, and planning, suggesting that the OO group does not have the above-average EF scores of the TD group despite their high-average IQs.
C1 [Troyb, Eva; Eigsti, Inge-Marie; Tyson, Katherine; Orinstein, Alyssa; Barton, Marianne; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
[Rosenthal, Michael] Child Mind Inst, New York, NY USA.
[Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
[Fein, Deborah] Univ Connecticut, Dept Pediat, Farmington, CT USA.
RP Troyb, E (reprint author), Univ Connecticut, Dept Psychol, Unit 1020, 406 Babbidge Rd, Storrs, CT 06269 USA.
EM eva.troyb@uconn.edu
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NR 44
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0929-7049
EI 1744-4136
J9 CHILD NEUROPSYCHOL
JI Child Neuropsychol.
PD JUL 4
PY 2014
VL 20
IS 4
BP 378
EP 397
DI 10.1080/09297049.2013.799644
PG 20
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF8VA
UT WOS:000334992500001
PM 23731181
ER
PT J
AU Rothwell, PE
Fuccillo, MV
Maxeiner, S
Hayton, SJ
Gokce, O
Lim, BK
Fowler, SC
Malenka, RC
Sudhof, TC
AF Rothwell, Patrick E.
Fuccillo, Marc V.
Maxeiner, Stephan
Hayton, Scott J.
Gokce, Ozgun
Lim, Byung Kook
Fowler, Stephen C.
Malenka, Robert C.
Suedhof, Thomas C.
TI Autism-Associated Neuroligin-3 Mutations Commonly Impair Striatal
Circuits to Boost Repetitive Behaviors
SO CELL
LA English
DT Article
ID NUCLEUS-ACCUMBENS; SYNAPTIC PATHOPHYSIOLOGY; BASAL GANGLIA; SOCIAL
REWARD; MOUSE MODEL; DE-NOVO; MICE; PLASTICITY; SKILL; ACQUISITION
AB In humans, neuroligin-3 mutations are associated with autism, whereas in mice, the corresponding mutations produce robust synaptic and behavioral changes. However, different neuroligin-3 mutations cause largely distinct phenotypes in mice, and no causal relationship links a specific synaptic dysfunction to a behavioral change. Using rotarod motor learning as a proxy for acquired repetitive behaviors in mice, we found that different neuroligin-3 mutations uniformly enhanced formation of repetitive motor routines. Surprisingly, neuroligin-3 mutations caused this phenotype not via changes in the cerebellum or dorsal striatum but via a selective synaptic impairment in the nucleus accumbens/ventral striatum. Here, neuroligin-3 mutations increased rotarod learning by specifically impeding synaptic inhibition onto D1-dopamine receptor-expressing but not D2-dopamine receptor-expressing medium spiny neurons. Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology.
C1 [Rothwell, Patrick E.; Fuccillo, Marc V.; Maxeiner, Stephan; Gokce, Ozgun; Suedhof, Thomas C.] Stanford Univ, Sch Med, Dept Mol & Cellular Physiol, Stanford, CA 94305 USA.
[Rothwell, Patrick E.; Fuccillo, Marc V.; Hayton, Scott J.; Lim, Byung Kook; Malenka, Robert C.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Nancy Pritzker Lab, Stanford, CA 94305 USA.
[Suedhof, Thomas C.] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA.
[Fowler, Stephen C.] Univ Kansas, Dept Pharmacol & Toxicol, Lawrence, KS 66045 USA.
RP Malenka, RC (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Nancy Pritzker Lab, Stanford, CA 94305 USA.
EM malenka@stanford.edu; tcs1@stanford.edu
FU NIMH [P50 MH086403, K99 MH099243, F32 MH096491]; Simons Foundation
FX We thank A. Darvishzadeh, A. Afjei, G. Sun, S. Ghosh, and N. Huang for
technical assistance, C. Foldy for advice, and all Malenka and Sudhof
lab members for helpful discussions. This work was supported by grants
from the NIMH (P50 MH086403 to R.C.M. and T.C.S., K99 MH099243 to
M.V.F., and F32 MH096491 to P.E.R.); initial stages were also supported
by the Simons Foundation (to R.C.M. and T.C.S.).
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NR 46
TC 14
Z9 14
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD JUL 3
PY 2014
VL 158
IS 1
BP 198
EP 212
DI 10.1016/j.cell.2014.04.045
PG 15
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AN9QQ
UT WOS:000340943100018
PM 24995986
ER
PT J
AU Yoon, KJ
Nguyen, HN
Ursini, G
Zhang, FY
Kim, NS
Wen, ZX
Makri, G
Nauen, D
Shin, JH
Park, Y
Chung, R
Pekle, E
Zhang, C
Towe, M
Mohammed, S
Hussaini, Q
Lee, Y
Rujescu, D
St Clair, D
Kleinman, JE
Hyde, TM
Krauss, G
Christian, KM
Rapoport, JL
Weinberger, DR
Song, HJ
Ming, GL
AF Yoon, Ki-Jun
Ha Nam Nguyen
Ursini, Gianluca
Zhang, Fengyu
Kim, Nam-Shik
Wen, Zhexing
Makri, Georgia
Nauen, David
Shin, Joo Heon
Park, Youngbin
Chung, Raeeun
Pekle, Eva
Zhang, Ce
Towe, Maxwell
Mohammed, Syed
Hussaini, Qasim
Lee, Yohan
Rujescu, Dan
St Clair, David
Kleinman, Joel E.
Hyde, Thomas M.
Krauss, Gregory
Christian, Kimberly M.
Rapoport, Judith L.
Weinberger, Daniel R.
Song, Hongjun
Ming, Guo-li
TI Modeling a Genetic Risk for Schizophrenia in iPSCs and Mice Reveals
Neural Stem Cell Deficits Associated with Adherens Junctions and
Polarity
SO CELL STEM CELL
LA English
DT Article
ID COPY NUMBER VARIANTS; RECURRENT MICRODELETIONS; NEURONAL MIGRATION;
CEREBRAL-CORTEX; PROTEIN; AUTISM; DROSOPHILA; 15Q11.2; WAVE2;
PATHOGENESIS
AB Defects in brain development are believed to contribute toward the onset of neuropsychiatric disorders, but identifying specific underlying mechanisms has proven difficult. Here, we took a multifaceted approach to investigate why 15q11.2 copy number variants are prominent risk factors for schizophrenia and autism. First, we show that human iPSC-derived neural progenitors carrying 15q11.2 microdeletion exhibit deficits in adherens junctions and apical polarity. This results from haploinsufficiency of CYFIP1, a gene within 15q11.2 that encodes a subunit of the WAVE complex, which regulates cytoskeletal dynamics. In developing mouse cortex, deficiency in CYFIP1 and WAVE signaling similarly affects radial glial cells, leading to their ectopic localization outside of the ventricular zone. Finally, targeted human genetic association analyses revealed an epistatic interaction between CYFIP1 and WAVE signaling mediator ACTR2 and risk for schizophrenia. Our findings provide insight into how CYFIP1 regulates neural stem cell function and may contribute to the susceptibility of neuropsychiatric disorders.
C1 [Yoon, Ki-Jun; Ha Nam Nguyen; Kim, Nam-Shik; Wen, Zhexing; Makri, Georgia; Nauen, David; Park, Youngbin; Chung, Raeeun; Pekle, Eva; Zhang, Ce; Towe, Maxwell; Mohammed, Syed; Christian, Kimberly M.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Inst Cell Engn, Baltimore, MD 21205 USA.
[Yoon, Ki-Jun; Kim, Nam-Shik; Wen, Zhexing; Makri, Georgia; Zhang, Ce; Krauss, Gregory; Christian, Kimberly M.; Weinberger, Daniel R.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Ha Nam Nguyen; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Grad Program Cellular & Mol Med, Baltimore, MD 21205 USA.
[Ursini, Gianluca; Zhang, Fengyu; Shin, Joo Heon; Kleinman, Joel E.; Hyde, Thomas M.; Weinberger, Daniel R.] Johns Hopkins Univ, Sch Med, Lieber Inst Brain Dev, Baltimore, MD 21205 USA.
[Nauen, David] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA.
[Lee, Yohan; Rapoport, Judith L.] NIMH, Child Psychiat Branch, Bethesda, MD 20892 USA.
[Rujescu, Dan] Univ Munich, Dept Psychiat, D-80336 Munich, Germany.
[St Clair, David] Univ Aberdeen, Royal Cornhill Hosp, Aberdeen AB25 2ZD, Scotland.
[Weinberger, Daniel R.; Song, Hongjun; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA.
RP Ming, GL (reprint author), Johns Hopkins Univ, Sch Med, Inst Cell Engn, Baltimore, MD 21205 USA.
EM shongju1@jhmi.edu; gming1@jhmi.edu
RI Wen, Zhexing/B-9313-2014
FU NIH [NS048271, HD069184, NS047344, MH087874, F31MH102978]; Brain and
Behavior Research Foundation (NARSAD); Maryland Stem Cell Research Fund
(MSCRF); Simons Foundation Autism Research Initiative (SFARI);
International Mental Health Research Organization (IMHRO); Lieber
Institute for Brain Development; NARSAD; MSCRF; HFSP
FX We would like to thank members of G.-l.M. and H.S. laboratories for
discussion, ICE stem cell core and H. Kim for generating some iPSC
lines, K. Ahn, T. Andersen, V. Villagomez, L. Liu, and Y. Cai for
technical support and help. This work was supported by NIH (NS048271,
HD069184), the Brain and Behavior Research Foundation (NARSAD), and the
Maryland Stem Cell Research Fund (MSCRF) (to G.-l. M.), the Simons
Foundation Autism Research Initiative (SFARI), NIH (NS047344, MH087874),
and the International Mental Health Research Organization (IMHRO) to H.
S., the Lieber Institute for Brain Development to D.R.W., J.E.K., and
T.M.H., NARSAD and MSCRF to K.M.C., by fellowships from HFSP to K-j.Y.
and MSCRF to G.M., N.-S.K., and Z.W., and from NIH (F31MH102978) to
H.N.N.
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NR 53
TC 6
Z9 6
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 1934-5909
EI 1875-9777
J9 CELL STEM CELL
JI Cell Stem Cell
PD JUL 3
PY 2014
VL 15
IS 1
BP 79
EP 91
DI 10.1016/j.stem.2014.05.003
PG 13
WC Cell & Tissue Engineering; Cell Biology
SC Cell Biology
GA AN8TX
UT WOS:000340878600013
PM 24996170
ER
PT J
AU Maskey, M
Lowry, J
Rodgers, J
McConachie, H
Parr, JR
AF Maskey, Morag
Lowry, Jessica
Rodgers, Jacqui
McConachie, Helen
Parr, Jeremy R.
TI Reducing Specific Phobia/Fear in Young People with Autism Spectrum
Disorders (ASDs) through a Virtual Reality Environment Intervention
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; COMORBID PSYCHIATRIC-DISORDERS; ANXIETY
DISORDERS; CONTROLLED-TRIAL; CHILDREN; ADOLESCENTS; SYMPTOMS; YOUTH;
POPULATION; RESPONSES
AB Anxiety is common in children with autism spectrum disorders (ASD), with specific fears and phobias one of the most frequent subtypes. Specific fears and phobias can have a serious impact on young people with ASD and their families. In this study we developed and evaluated a unique treatment combining cognitive behaviour therapy (CBT) with graduated exposure in a virtual reality environment (VRE). Nine verbally fluent boys with an ASD diagnosis and no reported learning disability, aged 7 to 13 years old, were recruited. Each had anxiety around a specific situation (e. g. crowded buses) or stimulus (e. g. pigeons). An individualised scene was recreated in our 'wrap-around' VRE. In the VRE participants were coached by a psychologist in cognitive and behavioural techniques (e.g. relaxation and breathing exercises) while the exposure to the phobia/fear stimulus was gradually increased as the child felt ready. Each child received four 20-30 minute sessions. After participating in the study, eight of the nine children were able to tackle their phobia situation. Four of the participants completely overcame their phobia. Treatment effects were maintained at 12 months. These results provide evidence that CBT with VRE can be a highly effective treatment for specific phobia/fear for some young people with ASD.
C1 [Maskey, Morag; Rodgers, Jacqui; Parr, Jeremy R.] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Lowry, Jessica; McConachie, Helen] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
RP Maskey, M (reprint author), Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM morag.maskey@ncl.ac.uk; Jeremy.parr@ncl.ac.uk
FU Newcastle University
FX Dr Morag Maskey has a Daphne Jackson Fellowship sponsored by Newcastle
University (http://www.daphnejackson.org/). The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 49
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 2
PY 2014
VL 9
IS 7
AR e100374
DI 10.1371/journal.pone.0100374
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BA
UT WOS:000341354100029
PM 24987957
ER
PT J
AU Ross, KA
AF Ross, Kenneth Andrew
TI Coherent Somatic Mutation in Autoimmune Disease
SO PLOS ONE
LA English
DT Article
ID SYSTEMIC-LUPUS-ERYTHEMATOSUS; AUTISM SPECTRUM DISORDERS; JUVENILE
IDIOPATHIC ARTHRITIS; INFLAMMATORY-BOWEL-DISEASE;
CORONARY-ARTERY-DISEASE; PRIMARY BILIARY-CIRRHOSIS;
NATURAL-KILLER-CELLS; MYELIN-ASSOCIATED GLYCOPROTEIN; ANTI-PITUITARY
ANTIBODIES; OF-FUNCTION MUTATIONS
AB Background: Many aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.
Results: Protein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (p<3.0 x 10(-7)). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.
Conclusions: The results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.
C1 Columbia Univ, Dept Comp Sci, New York, NY 10027 USA.
RP Ross, KA (reprint author), Columbia Univ, Dept Comp Sci, New York, NY 10027 USA.
EM kar@cs.columbia.edu
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NR 462
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Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 2
PY 2014
VL 9
IS 7
AR e101093
DI 10.1371/journal.pone.0101093
PG 24
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO5BA
UT WOS:000341354100059
PM 24988487
ER
PT J
AU van de Leemput, J
Boles, NC
Kiehl, TR
Corneo, B
Lederman, P
Menon, V
Lee, C
Martinez, RA
Levi, BP
Thompson, CL
Yao, SY
Kaykas, A
Temple, S
Fasano, CA
AF van de Leemput, Joyce
Boles, Nathan C.
Kiehl, Thomas R.
Corneo, Barbara
Lederman, Patty
Menon, Vilas
Lee, Changkyu
Martinez, Refugio A.
Levi, Boaz P.
Thompson, Carol L.
Yao, Shuyuan
Kaykas, Ajamete
Temple, Sally
Fasano, Christopher A.
TI CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral
Cortex Development from Human Embryonic Stem Cells
SO NEURON
LA English
DT Article
ID MESSENGER-RNA EXPRESSION; CENTRAL-NERVOUS-SYSTEM; CORTICAL DEVELOPMENT;
HUMAN BRAIN; NEOCORTICAL NEURONOGENESIS; SIGNALING PATHWAY; AUTISM;
DIFFERENTIATION; NEURONS; GENE
AB Many neurological and psychiatric disorders affect the cerebral cortex, and a clearer understanding of the molecular processes underlying human corticogenesis will provide greater insight into such pathologies. To date, knowledge of gene expression changes accompanying corticogenesis is largely based on murine data. Here we present a searchable, comprehensive, temporal gene expression data set encompassing cerebral cortical development from human embryonic stem cells (hESCs). Using a modified differentiation protocol that yields neurons suggestive of prefrontal cortex, we identified sets of genes and long noncoding RNAs that significantly change during corticogenesis and those enriched for disease-associations. Numerous alternatively spliced genes with varying temporal patterns of expression are revealed, including TGIF1, involved in holoprosencephaly, and MARK1, involved in autism. We have created a database (http://cortecon.neuralsci.org/) that provides online, query-based access to changes in RNA expression and alternatively spliced transcripts during human cortical development.
C1 [van de Leemput, Joyce; Boles, Nathan C.; Kiehl, Thomas R.; Corneo, Barbara; Lederman, Patty; Temple, Sally; Fasano, Christopher A.] Neural Stem Cell Inst, Rensselaer, NY 12144 USA.
[Kiehl, Thomas R.] SUNY Albany, Coll Comp & Informat, Dept Comp Sci, Albany, NY 12144 USA.
[Menon, Vilas; Lee, Changkyu; Martinez, Refugio A.; Levi, Boaz P.; Thompson, Carol L.; Yao, Shuyuan; Kaykas, Ajamete] Allen Inst Brain Sci, Seattle, WA 98103 USA.
RP Temple, S (reprint author), Neural Stem Cell Inst, Rensselaer, NY 12144 USA.
EM sallytemple@neuralsci.org; chrisfasano@neuralsci.org
FU NINDS [NS072434-01A1]; Regenerative Research Foundation; Allen Institute
for Brain Science
FX This work was supported by grants from NINDS (NS072434-01A1 to C. A. F.)
and the Regenerative Research Foundation. This collaborative work was
supported in part by the Allen Institute for Brain Science. Its authors
wish to thank the Allen Institute founders, Paul G. Allen and Jody
Allen, for their vision, encouragement, and support.
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NR 63
TC 5
Z9 6
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD JUL 2
PY 2014
VL 83
IS 1
BP 51
EP 68
DI 10.1016/j.neuron.2014.05.013
PG 18
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800007
PM 24991954
ER
PT J
AU Yamada, T
Yang, Y
Hemberg, M
Yoshida, T
Cho, HY
Murphy, JP
Fioravante, D
Regehr, WG
Gygi, SP
Georgopoulos, K
Bonni, A
AF Yamada, Tomoko
Yang, Yue
Hemberg, Martin
Yoshida, Toshimi
Cho, Ha Young
Murphy, J. Patrick
Fioravante, Diasynou
Regehr, Wade G.
Gygi, Steven P.
Georgopoulos, Katia
Bonni, Azad
TI Promoter Decommissioning by the NuRD Chromatin Remodeling Complex
Triggers Synaptic Connectivity in the Mammalian Brain
SO NEURON
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; HISTONE DEACETYLASE;
NEURAL DEVELOPMENT; MI-2/NURD COMPLEX; BREAST-CANCER; GRANULE CELL;
HUMAN GENOME; STEM-CELLS; DIFFERENTIATION
AB Precise control of gene expression plays fundamental roles in brain development, but the roles of chromatin regulators in neuronal connectivity have remained poorly understood. We report that depletion of the NuRD complex by in vivo RNAi and conditional knockout of the core NuRD subunit Chd4 profoundly impairs the establishment of granule neuron parallel fiber/Purkinje cell synapses in the rodent cerebellar cortex in vivo. By interfacing genome-wide sequencing of transcripts and ChIP-seq analyses, we uncover a network of repressed genes and distinct histone modifications at target gene promoters that are developmentally regulated by the NuRD complex in the cerebellum in vivo. Finally, in a targeted in vivo RNAi screen of NuRD target genes, we identify a program of NuRD-repressed genes that operate as critical regulators of presynaptic differentiation in the cerebellar cortex. Our findings define NuRD-dependent promoter decommissioning as a developmentally regulated programming mechanism that drives synaptic connectivity in the mammalian brain.
C1 [Yamada, Tomoko; Yang, Yue; Cho, Ha Young; Bonni, Azad] Washington Univ, Sch Med, Dept Anat & Neurobiol, St Louis, MO 63110 USA.
[Yamada, Tomoko; Yang, Yue; Cho, Ha Young; Fioravante, Diasynou; Regehr, Wade G.; Bonni, Azad] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA.
[Hemberg, Martin] Childrens Hosp Boston, Dept Ophthalmol, Boston, MA 02115 USA.
[Yoshida, Toshimi; Georgopoulos, Katia] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Cutaneous Biol Res Ctr, Charlestown, MA 02129 USA.
[Gygi, Steven P.] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA.
RP Bonni, A (reprint author), Washington Univ, Sch Med, Dept Anat & Neurobiol, St Louis, MO 63110 USA.
EM bonni@wustl.edu
FU NIH [NS041021, AG000222, NS032405, NS007484]; Mathers Foundation; Japan
Society for the Promotion of Science; NCI [P30 CA91842]; ICTS/CTSA
[UL1TR000448]
FX We thank members of the Bonni laboratory for helpful discussions and
critical reading of the manuscript. Supported by NIH grant NS041021 (to
A. B.), the Mathers Foundation (to A. B.), the Japan Society for the
Promotion of Science (to T. Yamada), NIH training grant AG000222 (to
Y.Y.), NIH grant NS032405 (to W. G. R.), and NIH training grant NS007484
(to D. F.). We thank the Genome Technology Access Center at Washington
University, which is supported by NCI P30 CA91842 to the Siteman Cancer
Center and by ICTS/CTSA UL1TR000448.
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NR 45
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD JUL 2
PY 2014
VL 83
IS 1
BP 122
EP 134
DI 10.1016/j.neuron.2014.05.039
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800012
PM 24991957
ER
PT J
AU Antzoulatos, EG
Miller, EK
AF Antzoulatos, Evan G.
Miller, Earl K.
TI Increases in Functional Connectivity between Prefrontal Cortex and
Striatum during Category Learning
SO NEURON
LA English
DT Article
ID BETA-BAND OSCILLATIONS; BASAL GANGLIA; GRANGER CAUSALITY; CORTICAL
NETWORK; BRAIN NETWORKS; TOP-DOWN; SYNCHRONIZATION; CATEGORIZATION;
ATTENTION; MEMORY
AB Functional connectivity between the prefrontal cortex (PFC) and striatum (STR) is thought critical for cognition and has been linked to conditions like autism and schizophrenia. We recorded from multiple electrodes in PFC and STR while monkeys acquired new categories. Category learning was accompanied by an increase in beta band synchronization of LFPs between, but not within, the PFC and STR. After learning, different pairs of PFC-STR electrodes showed stronger synchrony for one or the other category, suggesting category-specific functional circuits. This category-specific synchrony was also seen between PFC spikes and STR LFPs, but not the reverse, reflecting the direct monosynaptic connections from the PFC to STR. However, causal connectivity analyses suggested that the polysynaptic connections from STR to the PFC exerted a stronger overall influence. This supports models positing that the basal ganglia "train'' the PFC. Category learning may depend on the formation of functional circuits between the PFC and STR.
C1 [Antzoulatos, Evan G.; Miller, Earl K.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
[Antzoulatos, Evan G.] Univ Calif Davis, Dept Neurobiol Physiol & Behav, Ctr Neurosci, Davis, CA 95618 USA.
RP Antzoulatos, EG (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, E25-618, Cambridge, MA 02139 USA.
EM eantzoulatos@ucdavis.edu; ekmiller@mit.edu
RI Antzoulatos, Evan/D-3204-2012
OI Antzoulatos, Evan/0000-0002-7366-2078
FU National Institute of Mental Health [5R01MH065252-12]; Picower
Foundation
FX The authors thank B. Gray, S. Koopman, and D. Ouellette for technical
assistance; S. Brincat, J. Donoghue, S. Kornblith, R. Loonis, M.
Lundqvist, M. Moazami, V. Puig, J. Rose, J. Roy, and M. Silver for
helpful discussions; and M. Wicherski for comments on the manuscript.
This work was funded by the National Institute of Mental Health
(5R01MH065252-12) and the Picower Foundation.
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NR 50
TC 8
Z9 8
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD JUL 2
PY 2014
VL 83
IS 1
BP 216
EP 225
DI 10.1016/j.neuron.2014.05.005
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AN3HJ
UT WOS:000340476800019
PM 24930701
ER
PT J
AU Ichikawa, H
Kitazono, J
Nagata, K
Manda, A
Shimamura, K
Sakuta, R
Okada, M
Yamaguchi, MK
Kanazawa, S
Kakigi, R
AF Ichikawa, Hiroko
Kitazono, Jun
Nagata, Kenji
Manda, Akira
Shimamura, Keiichi
Sakuta, Ryoichi
Okada, Masato
Yamaguchi, Masami K.
Kanazawa, So
Kakigi, Ryusuke
TI Novel method to classify hemodynamic response obtained using
multi-channel fNIRS measurements into two groups: exploring the
combinations of channels
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE hemodynamic data; near-infrared spectroscopy (NIRS); support vector
machine (SVM); sparse modeling; attention-deficit/hyperactivity disorder
(ADHD); autism spectrum disorders (ASD)
ID NEAR-INFRARED SPECTROSCOPY; AUTISM SPECTRUM DISORDER; NEURAL
REPRESENTATION; FEATURE-SELECTION; INFANT BRAIN; FACE; CHILDREN;
RECOGNITION; SYMPTOMS; CLASSIFICATION
AB Near-infrared spectroscopy (NIRS) in psychiatric studies has widely demonstrated that cerebral hemodynamics differs among psychiatric patients. Recently we found that children with attention-deficit/hyperactivity disorder (ADHD) and children with autism spectrum disorders (ASD) showed different hemodynamic responses to their own mother's face. Based on this finding, we may be able to classify the hemodynamic data into two those groups and predict to which diagnostic group an unknown participant belongs. In the present study, we proposed a novel statistical method for classifying the hemodynamic data of these two groups. By applying a support vector machine (SVM), we searched the combination of measurement channels at which the hemodynamic response differed between the ADHD and the ASD children. The SVM found the optimal subset of channels in each data set and successfully classified the ADHD data from the ASD data. For the 24-dimensional hemodynamic data, two optimal subsets classified the hemodynamic data with 84% classification accuracy, while the subset contained all 24 channels classified with 62% classification accuracy. These results indicate the potential application of our novel method for classifying the hemodynamic data into two groups and revealing the combinations of channels that efficiently differentiate the two groups.
C1 [Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Dept Psychol, Tokyo 1920393, Japan.
[Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Res Dev Initiat, Tokyo 1920393, Japan.
[Ichikawa, Hiroko] Japan Soc Promot Sci, Tokyo, Japan.
[Kitazono, Jun; Nagata, Kenji; Manda, Akira; Okada, Masato] Univ Tokyo, Dept Complex Sci & Engn, Kashiwa, Chiba, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Dept Pediat, Koshigaya, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Ctr Child Dev & Psychosomat Med, Koshigaya, Japan.
[Okada, Masato] RIKEN, Brain Sci Inst, Wako, Saitama, Japan.
[Kanazawa, So] Japan Womens Univ, Dept Psychol, Kawasaki, Kanagawa, Japan.
[Kakigi, Ryusuke] Natl Inst Physiol Sci, Dept Integrat Physiol, Okazaki, Aichi 444, Japan.
RP Ichikawa, H (reprint author), Chuo Univ, Dept Psychol, 742-1 Higashi Nakano, Tokyo 1920393, Japan.
EM ichihiro@tamacc.chuo-u.ac.jp
FU MEXT KAKENHI [20119002, 23119708]; JSPS KAKENHI [25120009, 26120529,
25106506, 22700230, 10J06155, 24 7809]
FX This study was supported by Grant-in-Aid for Scientific Research on
Innovative Areas, "Face perception and recognition" from MEXT KAKENHI
(20119002 to Masami K. Yamaguchi, 23119708 to Masato Okada);
Grant-in-Aid for Scientific Research on Innovative Areas, "Sparse
Modeling" from JSPS KAKENHI (25120009 to Masato Okada and Kenji Nagata,
26120529 to Hiroko Ichikawa); Grant-in-Aid for Scientific Research on
Innovative Areas, "Exploring the Limits of Computation (ELC)" from JSPS
KAKENHI (25106506 to Kenji Nagata); Grant-in-Aid for Scientific Research
(A) from JSPS KAKENHI (20240020 to Masato Okada); Grant-in-Aid for Young
Scientists (B) from JSPS KAKENHI (22700230 to Kenji Nagata) and a
Grant-in-Aid for JSPS Fellows from JSPS KAKENHI (10J06155 to Jun
Kitazono, 24 7809 to Hiroko Ichikawa).
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NR 51
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JUL 2
PY 2014
VL 8
AR 480
DI 10.3389/fnhum.2014.00480
PG 10
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM7MZ
UT WOS:000340053100001
PM 25071510
ER
PT J
AU Dekker, V
Nauta, MH
Mulder, EJ
Timmerman, ME
de Bildt, A
AF Dekker, Vera
Nauta, Maaike H.
Mulder, Erik J.
Timmerman, Marieke E.
de Bildt, Annelies
TI A randomized controlled study of a social skills training for
preadolescent children with autism spectrum disorders: generalization of
skills by training parents and teachers?
SO BMC PSYCHIATRY
LA English
DT Article
DE Social skills training; Autism spectrum disorder; RCT; Primary school;
Treatment efficacy
ID HIGH-FUNCTIONING AUTISM; ASPERGERS-SYNDROME; INTERVENTION; PROGRAM;
EFFICACY
AB Background: Social skills training (SST) is a common intervention for children with autism spectrum disorders (ASDs) to improve their social and communication skills. Despite the fact that SSTs are often applied in clinical practice, the evidence for the effectiveness of these trainings for children with ASD is inconclusive. Moreover, long term outcome and generalization of learned skills are little evaluated. Additionally, there is no research on the influence of involvement of parents and teachers on effectiveness of SST and on the generalization of learned social skills to daily life. We expect parent and teacher involvement in SST to enhance treatment efficacy and to facilitate generalization of learned skills to daily life.
Method/Design: In a randomized controlled trial (RCT) with three conditions, 120 participants with ASD at the end of primary school (10-12 years of calendar age) have been randomized to SST, SST-PTI SST with Parent & Teacher Involvement), or care-as-usual. The SST consists of 18 group sessions of 1.5 hours for the children. In the SST-PTI condition, parents additionally participate in 8 parent sessions and parents and teachers are actively involved in homework assignments. Assessment takes place at three moments: before and immediately after the intervention period and at 6 months follow-up. Primary outcome is socialization, as an aspect of adaptive functioning. Secondary outcomes focus on specific social skills children learn during SST and on more general social skills pertaining to home and community settings from a multi informant perspective. Additionally, possible predictors of treatment outcome will be assessed.
Discussion: The current study is an RCT study evaluating SST in a large sample of Dutch children with ASD in a specific age range (10-12 years). Strengths of the study are the use of one manualized protocol, application of standardized and internationally used rating instruments, use of multiple raters, investigation of generalization of learned skills to daily life, and the evaluation of efficacy in the longer term by follow-up measures at 6 months after the end of training.
C1 [Dekker, Vera; Nauta, Maaike H.; Mulder, Erik J.; de Bildt, Annelies] Univ Groningen, Univ Med Ctr Groningen, Accare Groningen, Dept Child & Adolescent Psychiat, NL-9700 RB Groningen, Netherlands.
[Nauta, Maaike H.; Timmerman, Marieke E.] Univ Groningen, Dept Clin Psychol, NL-9712 TS Groningen, Netherlands.
RP Dekker, V (reprint author), Univ Groningen, Univ Med Ctr Groningen, Accare Groningen, Dept Child & Adolescent Psychiat, Hanzepl 1, NL-9700 RB Groningen, Netherlands.
EM v.dekker@accare.nl
FU Netherlands Organization for Health Research and Development (ZonMw)
[157003005]
FX This study has been funded by the Netherlands Organization for Health
Research and Development (ZonMw, nr 157003005). Barbara van den
Hoofdakker, Lianne van der Veen, Sjoukje van Warners, and Leonieke Vet
have developed the intervention protocols used in the study.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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White SW, 2007, J AUTISM DEV DISORD, V37, P1858, DOI 10.1007/s10803-006-0320-x
Yoo HJ, AUTISM RES
NR 34
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-244X
J9 BMC PSYCHIATRY
JI BMC Psychiatry
PD JUL 2
PY 2014
VL 14
AR 189
DI 10.1186/1471-244X-14-189
PG 13
WC Psychiatry
SC Psychiatry
GA AL4PT
UT WOS:000339115600001
PM 24989854
ER
PT J
AU Smith, JD
Rho, JM
Masino, SA
Mychasiuk, R
AF Smith, Jacklyn D.
Rho, Jong M.
Masino, Susan A.
Mychasiuk, Richelle
TI Inchworming: A Novel Motor Stereotypy in the BTBR T+ Itpr3(tf/)J Mouse
Model of Autism
SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
LA English
DT Article
DE Behavior; Issue 89; mice; inbred C57BL; social behavior; animal models;
autism; BTBR; motor stereotypy; repetitive
ID BEHAVIORS; MICE; ANXIETY
AB Autism Spectrum Disorder (ASD) is a behaviorally defined neurodevelopmental disorder characterized by decreased reciprocal social interaction, abnormal communication, and repetitive behaviors with restricted interest. As diagnosis is based on clinical criteria, any potentially relevant rodent models of this heterogeneous disorder should ideally recapitulate these diverse behavioral traits. The BTBR T+ Itpr(3tf)/J (BTBR) mouse is an established animal model of ASD, displaying repetitive behaviors such as increased grooming, as well as cognitive inflexibility. With respect to social interaction and interest, the juvenile play test has been employed in multiple rodent models of ASD. Here, we show that when BTBR mice are tested in a juvenile social interaction enclosure containing sawdust bedding, they display a repetitive synchronous digging motion. This repetitive motor behavior, referred to as "inchworming," was named because of the stereotypic nature of the movements exhibited by the mice while moving horizontally across the floor. Inchworming mice must use their fore- and hind-limbs in synchrony to displace the bedding, performing a minimum of one inward and one outward motion. Although both BTBR and C56BL/6J (B6) mice exhibit this behavior, BTBR mice demonstrate a significantly higher duration and frequency of inchworming and a decreased latency to initiate inchworming when placed in a bedded enclosure. We conclude that this newly described behavior provides a measure of a repetitive motor stereotypy that can be easily measured in animal models of ASD.
C1 [Smith, Jacklyn D.; Rho, Jong M.; Mychasiuk, Richelle] Univ Calgary, Fac Med, Alberta Childrens Hosp, Res Inst,Dept Paediat & Clin Neurosci, Calgary, AB T2N 1N4, Canada.
[Masino, Susan A.] Trin Coll, Dept Psychol, Neurosci Program, Cambridge, England.
RP Mychasiuk, R (reprint author), Univ Calgary, Fac Med, Alberta Childrens Hosp, Res Inst,Dept Paediat & Clin Neurosci, Calgary, AB T2N 1N4, Canada.
EM rmmychas@ucalgary.ca
FU Alberta Children's Hospital Foundation; Alberta Children's Hospital
Research Institute
FX The authors are grateful for the technical and logistical assistance and
expertise provided by Rose Tobias, Younghee Ahn, and David N. Ruskin.
The work described here was funded by the Alberta Children's Hospital
Foundation and the Alberta Children's Hospital Research Institute.
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NR 12
TC 0
Z9 0
PU JOURNAL OF VISUALIZED EXPERIMENTS
PI CAMBRIDGE
PA 1 ALEWIFE CENTER, STE 200, CAMBRIDGE, MA 02140 USA
SN 1940-087X
J9 JOVE-J VIS EXP
JI J. Vis. Exp.
PD JUL
PY 2014
IS 89
AR e50791
DI 10.3791/50791
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA CB0DR
UT WOS:000349296100005
ER
PT J
AU Farah, R
Schmithorst, VJ
Keith, RW
Holland, SK
AF Farah, Rola
Schmithorst, Vincent J.
Keith, Robert W.
Holland, Scott K.
TI Altered white matter microstructure underlies listening difficulties in
children suspected of auditory processing disorders: a DTI study
SO BRAIN AND BEHAVIOR
LA English
DT Article
DE Attention; auditory processing disorder; dichotic listening; diffusion
tensor imaging; listening difficulties
ID DEFICIT-HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDER;
CORPUS-CALLOSUM; LANGUAGE LATERALIZATION; HUMAN BRAIN; SPEECH
LATERALIZATION; COGNITIVE CONTROL; SPINAL-CORD; DIFFUSION; ATTENTION
AB Introduction: The purpose of the present study was to identify biomarkers of listening difficulties by investigating white matter microstructure in children suspected of auditory processing disorder (APD) using diffusion tensor imaging (DTI). Behavioral studies have suggested that impaired cognitive and/or attention abilities rather than a pure sensory processing deficit underlie listening difficulties and auditory processing disorder (APD) in children. However, the neural signature of listening difficulties has not been investigated. Methods: Twelve children with listening difficulties and atypical left ear advantage (LEA) in dichotic listening and twelve age- and gender-matched typically developing children with typical right ear advantage (REA) were tested. Using voxel-based analysis, fractional anisotropy (FA), and mean, axial and radial diffusivity (MD, AD, RD) maps were computed and contrasted between the groups. Results: Listening difficulties were associated with altered white matter microstructure, reflected by decreased FA in frontal multifocal white matter regions centered in prefrontal cortex bilaterally and left anterior cingulate. Increased RD and decreased AD accounted for the decreased FA, suggesting delayed myelination in frontal white matter tracts and disrupted fiber organization in the LEA group. Furthermore, listening difficulties were associated with increased MD (with increase in both RD and AD) in the posterior limb of the internal capsule (sublenticular part) at the auditory radiations where auditory input is transmitted between the thalamus and the auditory cortex. Conclusions: Our results provide direct evidence that listening difficulties in children are associated with altered white matter microstructure and that both sensory and supramodal deficits underlie the differences between the groups.
C1 [Farah, Rola] Cincinnati Childrens Hosp Med Ctr, Commun Sci Res Ctr, Cincinnati, OH 45229 USA.
[Farah, Rola; Keith, Robert W.] Univ Cincinnati, Coll Allied Hlth Sci, Dept Commun Sci & Disorders, Cincinnati, OH USA.
[Schmithorst, Vincent J.] UPMC, Childrens Hosp Pittsburgh, Dept Radiol, Pittsburgh, PA USA.
[Holland, Scott K.] Cincinnati Childrens Hosp Med Ctr, Dept Radiol, Pediat Neuroimaging Res Consortium, Cincinnati, OH 45229 USA.
RP Farah, R (reprint author), Cincinnati Childrens Hosp Med Ctr, Commun Sci Res Ctr, 3333 Burnet Ave, Cincinnati, OH 45229 USA.
EM Rola.farrah@cchmc.org
FU University of Cincinnati Research Council grant; Imaging Research Center
at Cincinnati Children's Hospital Medical Center
FX This work was supported in part by a University of Cincinnati Research
Council grant and by the Imaging Research Center at Cincinnati
Children's Hospital Medical Center.
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NR 82
TC 0
Z9 0
PU JOHN WILEY & SONS INC
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN, NJ 07030 USA
SN 2162-3279
J9 BRAIN BEHAV
JI Brain Behav.
PD JUL
PY 2014
VL 4
IS 4
BP 531
EP 543
DI 10.1002/brb3.237
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AX5NQ
UT WOS:000346973900008
PM 25161820
ER
PT J
AU Keselman, A
Smith, CA
Hundal, S
AF Keselman, Alla
Smith, Catherine Arnott
Hundal, Savreen
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LA English
DT Article
ID CHILDREN; PARENTS
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NR 16
TC 0
Z9 0
PU MEDICAL LIBRARY ASSOC
PI CHICAGO
PA 65 EAST WACKER PLACE, STE 1900, CHICAGO, IL 60601-7298 USA
SN 1536-5050
J9 J MED LIBR ASSOC
JI J. Med. Libr. Assoc.
PD JUL
PY 2014
VL 102
IS 3
BP 205
EP U73
DI 10.3163/1536-5050.102.3.012
PG 6
WC Information Science & Library Science
SC Information Science & Library Science
GA AW2UW
UT WOS:000346145700012
PM 25031563
ER
PT J
AU Sen, F
Oksar, RE
Golkarian, M
Yaldiz, S
AF Sen, Fatih
Oksar, Rustu Efe
Golkarian, Mina
Yaldiz, Sevde
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the Supply Chain
SO NOTULAE BOTANICAE HORTI AGROBOTANICI CLUJ-NAPOCA
LA English
DT Article
DE antioxidants; firmness; marketing pitting; Prunus autism L;
transportation
ID PRUNUS-AVIUM L.; ANTIOXIDANT ACTIVITY; SHELF-LIFE; BING CHERRIES;
COLD-STORAGE; ATMOSPHERES; FRAP
AB Transportation of sweet cherry fruits to distant markets and further marketing processes often takes approximately 2-3 weeks. The present study investigates the quality changes during this time period at three stages for three sweet cherry cultivars: 'Early Burlat', 'Napoleon', and '0900 Ziraat'. Following pre-cooling, the sweet cherries were placed in modified atmosphere packages and exposed to the following stages for the indicated durations: transportation (T) [8 days at 2 C and 85% relative humidity (RH)]; distribution center (DC) (4 days at 6.5 C and 80% RH), and shelf-life (SL) (2 days at 19 C and 70% RH). Weight losses at the end of the SL stage were 3.11, 3.18, and 2.74%, respectively in 'Early Burlat', 'Napoleon' and '0900 Ziraai. Fruit firmness decreased after SL as compared CO that at other stages and was more remarkable in '0900 Ziraat'. Decreased Chroma values which indicates, the intensity or color saturation were observed in all cultivars, whereas decreased hue angle values colours expressed in degrees were observed in the 'Early Burlat' and '0900 Ziraat'. In addition, a decrease was noted in the titratable acidity of all cultivars at the end of SL. The total soluble solids, total phenolic content, and antioxidant activities were similar for all cultivars at all stages. The visual appearance scores of 'Early Burlat' cherries decreased at the end of SL, because of development of pitting on the fruit surface. The fruit quality changes were limited at T and DC stages; however, these changes became more distinctive during the SL period. It was thus concluded that the SL duration and conditions were of the highest significance with regard to maintenance of the sweet cherry fruit quality.
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RP Sen, F (reprint author), Ege Univ, Fac Agr, Dept Hort, TR-35100 Izmir, Turkey.
EM fsenmacar@gmail.com
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NR 34
TC 0
Z9 0
PU UNIV AGR SCI & VETERINARY MED CLUJ-NAPOCA
PI CLUJ-NAPOCA
PA 3-5 MANASTUR ST, CLUJ-NAPOCA, 400372, ROMANIA
SN 0255-965X
J9 NOT BOT HORTI AGROBO
JI Not. Bot. Horti Agrobot. Cluj-Na.
PD JUL-DEC
PY 2014
VL 42
IS 2
BP 501
EP 506
DI 10.1583/nbha4229596
PG 6
WC Plant Sciences
SC Plant Sciences
GA AW5PM
UT WOS:000346326700029
ER
PT J
AU Courgeon, M
Rautureau, G
Martin, JC
Grynszpan, O
AF Courgeon, Matthieu
Rautureau, Gilles
Martin, Jean-Claude
Grynszpan, Ouriel
TI Joint Attention Simulation Using Eye-Tracking and Virtual Humans
SO IEEE TRANSACTIONS ON AFFECTIVE COMPUTING
LA English
DT Article
DE Interaction techniques; virtual reality; evaluation/methodology;
handicapped persons/special needs
ID AUTISM SPECTRUM DISORDER; SOCIAL COGNITION; GAZE DIRECTION;
VISUAL-ATTENTION; CHILDREN; PERCEPTION; FIXATION; LOOKING; ADULTS;
PERFORMANCE
AB This article analyses the issues pertaining to the simulation of joint attention with virtual humans. Gaze represents a powerful communication channel illustrated by the pivotal role of joint attention in social interactions. To our knowledge, there have been only few attempts to simulate gazing patterns associated with joint attention as a mean for developing empathic virtual agents. Eye-tracking technologies now enable creating non-invasive gaze-contingent systems that empower the user with the ability to lead a virtual human's focus of attention in real-time. Although gaze control can be deliberate, most of our visual behaviors in everyday life are not. This article reports empirical data suggesting that users only have partial awareness of controlling gaze-contingent displays. The technical challenges induced by detecting the user's focus of attention in virtual reality are reviewed and several solutions are compared. We designed and tested a platform for creating virtual humans endowed with the ability to follow the user's attention. The article discusses the advantages of simulating joint attention for improving interpersonal skills and user engagement. Joint attention plays a major role in the development of autism. The platform we designed is intended for research and treatment of autism and tests included participants with this disorder.
C1 [Courgeon, Matthieu] Univ Bretagne Sud, Lab STICC, F-29238 Brest 3, France.
[Rautureau, Gilles] Hop La Pitie Salpetriere, Emot Ctr, CNRS, USR 3246, F-75651 Paris, France.
[Martin, Jean-Claude] Univ Paris 11, CNRS, LIMSI, F-91403 Orsay, France.
[Grynszpan, Ouriel] Univ Paris 06, Hop La Pitie Salpetriere, Emot Ctr, CNRS USR 3246, F-75651 Paris, France.
RP Courgeon, M (reprint author), Univ Bretagne Sud, Lab STICC, F-29238 Brest 3, France.
EM courgeon@gmail.com; gilles.rautureau@upmc.fr; martin@limsi.fr;
ouriel.grynszpan@upmc.fr
FU La Fondation Orange [71/2012]; La Fondation de France et La Fondation
Adrienne et Pierre Sommer [2007 005874]; L'Agence Nationale de la
Recherche [ANR 12 SAMA 011 01]
FX The authors wish to thank Rachel Dupuis and Aliye Karasu for
experimental assistance. We are very grateful to Jacqueline Nadel for
her advices in experimental design. This work was supported by grants
from La Fondation Orange (project #71/2012, coordinator: O. Grynszpan),
La Fondation de France et La Fondation Adrienne et Pierre Sommer
(project #2007 005874, coordinator: O. Grynszpan) and L'Agence Nationale
de la Recherche (project #ANR 12 SAMA 011 01, coordinator: P. Fossati).
The corresponding author is Ouriel Grynszpan (ouriel.grynszpan@upmc.fr).
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NR 69
TC 1
Z9 1
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1949-3045
J9 IEEE T AFFECT COMPUT
JI IEEE Trans. Affect. Comput.
PD JUL-SEP
PY 2014
VL 5
IS 3
BP 238
EP 250
DI 10.1109/TAFFC.2014.2335740
PG 13
WC Computer Science, Artificial Intelligence; Computer Science, Cybernetics
SC Computer Science
GA AS9WP
UT WOS:000344589600005
ER
PT J
AU Shopen, R
AF Shopen, Roey
TI The Case for Private Speech As a Mode of Self-Formation What Its Absence
Contributes to Understanding Autism
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE autism; private speech; self
ID THEORY-OF-MIND; SPECTRUM DISORDER; INNER SPEECH; CHILDREN; MEMORY;
RECOGNITION; ADULTS; ADOLESCENTS; DIFFICULTY; TASK
AB Private speech is common among 3- to 7-year-olds but rare among children with autism spectrum disorders (ASDs). Thus far, this phenomenon has only been studied in narrow cognitive contexts. This article presents a case for why the phenomenon of private speech is essential for the development of self and subjectivity and for why an analysis of private speech from this standpoint will enable a better and broader understanding of difficulties in the experience of self among individuals with ASD. The article discusses the importance of the concept of the self for development and presents evidence of limited concepts of self in autism. Furthermore, it surveys theories on the development of components essential to the development of the self (e.g., self-dialogue, inner speech). Finally, the article lays out a model for how to think about private speech in a broader framework related to individuals with ASD.
C1 Schneider Childrens Hosp, Psychol Med Mental Hlth Clin, IL-645321 Petah Tiqwa, Israel.
RP Shopen, R (reprint author), Schneider Childrens Hosp, Psychol Med Mental Hlth Clin, IL-645321 Petah Tiqwa, Israel.
EM roshpen@gmail.com
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NR 66
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD JUL-SEP
PY 2014
VL 34
IS 3
BP 240
EP 251
DI 10.1097/TLD.0000000000000023
PG 12
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CX
UT WOS:000345027700006
ER
PT J
AU Timler, GR
Boone, WJ
Bergmann, AA
AF Timler, Geralyn R.
Boone, William J.
Bergmann, Amelia A.
TI Development of the Conversation Participation Rating Scale Intervention
Planning Implications for Two School-Age Children With Autism Spectrum
Disorders
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE autism spectrum disorders; conversation participation; school-age
children; social (pragmatic) communication disorders; WHO-ICF
ID SPEECH-LANGUAGE PATHOLOGY; HIGH-FUNCTIONING AUTISM; PRAGMATIC LANGUAGE;
SOCIAL-SKILLS; CONTROLLED-TRIAL; SELF; ADOLESCENTS; PERCEPTIONS;
QUALITY; ANXIETY
AB Purpose: School-age children with autism spectrum disorders (ASDs) have pervasive challenges in social interactions with peers. This study examined the feasibility of eliciting children's perceptions of their conversation participation with peers for the purposes of assessment and intervention planning. Methods: Two school-age children with ASD completed a newly developed self-report measure, the Conversation Participation Rating Scale (CPRS), designed for children and adolescents between the ages of 7 and 16 years, with social communication and peer interaction difficulties. Descriptive analyses examined agreement and discrepancy among child self-report, parent report, and standardized social language tests. Results: Both children provided a range of responses on the CPRS, revealing participation strengths as well as awareness of specific activity limitations and participation restrictions. Both children scored within the normal range on a social language test, even though parent report measures revealed significant concerns with pragmatic language and social skills. Discussion: The CPRS results contributed unique information to the assessment process. These results provide preliminary support for the feasibility of using a self-report conversation participation measure as a method for obtaining children's unique perspective of social communication activities and challenges in school settings.
C1 [Timler, Geralyn R.; Bergmann, Amelia A.] Miami Univ, Dept Speech Pathol & Audiol, Oxford, OH 45056 USA.
[Boone, William J.] Miami Univ, Dept Educ Psychol, Oxford, OH 45056 USA.
RP Timler, GR (reprint author), Miami Univ, Dept Speech Pathol & Audiol, 2 Bachelor Hall, Oxford, OH 45056 USA.
EM timlergr@miamioh.edu
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NR 48
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD JUL-SEP
PY 2014
VL 34
IS 3
BP 252
EP 267
DI 10.1097/TLD.0000000000000021
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CX
UT WOS:000345027700007
ER
PT J
AU Lotta, LT
Conrad, K
Cory-Slechta, D
Schor, NF
AF Lotta, L. T.
Conrad, K.
Cory-Slechta, D.
Schor, N. F.
TI Cerebellar Purkinje cell p75 neurotrophin receptor and autistic behavior
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID NERVE GROWTH-FACTOR; INTRACELLULAR DOMAIN; MICE; EXPRESSION; CHILDREN;
STRESS; DEPENDENCE; APOPTOSIS; NEURONS; SYSTEM
AB The p75 neurotrophin receptor (p75NTR) is normally expressed in cerebellar Purkinje cells throughout the lifespan. Children with autism spectrum behavior exhibit apparent cerebellar Purkinje cell loss. Cerebellar transcriptome changes seen in the murine prenatal valproate exposure model of autism include all of the proteins known to constitute the p75NTR interactome. p75NTR is a modulator of cytoplasmic and mitochondrial redox potential, and others have suggested that aberrant response to oxidant stress has a major role in the pathogenesis of autism. We have created Purkinje cell-selective p75NTR knockout mice that are the progeny of hemizygous Cre-Purkinje cell protein 2 C57Bl mice and p75NTR floxed C57Bl mice. These Cre-loxP mice exhibit complete knockout of p75NTR in similar to 50% of the cerebellar Purkinje cells. Relative to Cre-only mice and wild-type C57Bl mice, this results in a behavioral phenotype characterized by less allogrooming of (P < 0.05; one-way analysis of variance) and socialization or fighting with (each P < 0.05) other mice; less (1.2-fold) non-ambulatory exploration of their environment than wild-type (P < 0.01) or Cre only (P < 0.01) mice; and almost twofold more stereotyped jumping behavior than wild-type (P < 0.05) or Cre (P < 0.02) mice of the same strain. Wild-type mice have more complex dendritic arborization than Cre-loxP mice, with more neurites per unit area (P < 0.025, Student's t-test), more perpendicular branches per unit area (P < 0.025) and more short branches/long neurite (P < 0.0005). Aberrant developmental regulation of expression of p75NTR in cerebellar Purkinje cells may contribute to the pathogenesis of autism.
C1 [Lotta, L. T.; Conrad, K.; Cory-Slechta, D.; Schor, N. F.] Univ Rochester, Sch Med & Dent, Dept Pediat, Rochester, NY 14642 USA.
RP Schor, NF (reprint author), Univ Rochester, Med Ctr, 601 Elmwood Ave,POB 777, Rochester, NY 14642 USA.
EM Nina_Schor@urmc.rochester.edu
FU William H. Eilinger Endowment of the Golisano Children's Hospital at the
University of Rochester Medical Center; Strong Children's Research
Center Pilot Grant; NIH
FX We are grateful to Vesa Kaartinen for providing the p75NTR-floxed
founder mice for these studies and to Robert H Schor and Simeng Wang for
assistance with preparation of the figures. We also thank Christopher
Stodgell for pointing out the relationship between the p75NTR
interactome and the valproate model transcriptome. These studies were
funded by the William H. Eilinger Endowment of the Golisano Children's
Hospital at the University of Rochester Medical Center and by a Strong
Children's Research Center Pilot Grant. NFS and DC-S have been funded by
the NIH.
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NR 38
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD JUL
PY 2014
VL 4
AR e416
DI 10.1038/tp.2014.55
PG 6
WC Psychiatry
SC Psychiatry
GA AT3HP
UT WOS:000344826700013
PM 25072321
ER
PT J
AU Luke, S
Vail, CO
Ayres, KM
AF Luke, Sara
Vail, Cynthia O.
Ayres, Kevin M.
TI Using Antecedent Physical Activity to Increase On-Task Behavior in Young
Children
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID SELF-STIMULATORY BEHAVIOR; PRESCHOOL-CHILDREN; INAPPROPRIATE BEHAVIORS;
ACADEMIC-ACHIEVEMENT; EXERCISE; AUTISM; CLASSROOM; COGNITION; RECESS
AB A withdrawal design was used to investigate how physical activity affects on-task behavior of young children with significant developmental delays in a special education preschool classroom. Five preschool age children with significant developmental delays engaged in either physical activity or seated center activities for 20 min prior to a 15-min teacher-directed group activity. Momentary time sampling was used to calculate the percentage of intervals the participants were on-task using 15-s intervals. Results indicated all of the participants' on-task behavior was higher during the physical activity condition. These findings suggest physical activity may be used as a proactive behavioral intervention to improve the on-task behavior of young children with significant developmental delays during teacher-directed group activities.
C1 [Luke, Sara; Vail, Cynthia O.; Ayres, Kevin M.] Univ Georgia, Loganville, GA 30052 USA.
RP Luke, S (reprint author), Univ Georgia, POB 1447, Loganville, GA 30052 USA.
EM slukee@uga.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
BACHMAN JE, 1988, RES DEV DISABIL, V9, P73, DOI 10.1016/0891-4222(88)90021-2
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NR 40
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD JUL
PY 2014
VL 80
IS 4
BP 489
EP 503
DI 10.1177/0014402914527241
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9YZ
UT WOS:000343934900008
ER
PT J
AU Cassidy, S
Bradley, P
Robinson, J
Allison, C
McHugh, M
Baron-Cohen, S
AF Cassidy, Sarah
Bradley, Paul
Robinson, Janine
Allison, Carrie
McHugh, Meghan
Baron-Cohen, Simon
TI Suicidal ideation and suicide plans or attempts in adults with
Asperger's syndrome attending a specialist diagnostic clinic: a clinical
cohort study
SO LANCET PSYCHIATRY
LA English
DT Article
ID FUNCTIONING AUTISM; DISORDERS; SPECTRUM; INDIVIDUALS; QUOTIENT; CHILDREN
AB Background Asperger's syndrome in adulthood is frequently associated with depression, but few studies have explored the lifetime experience of self-reported suicidal ideation and suicide plans or attempts in this clinical group. We aimed to assess this prevalence in a clinical cohort of patients in the UK.
Method In a clinical cohort study, we undertook a retrospective analysis of clinical survey data from adults newly diagnosed with Asperger's syndrome at a specialist diagnostic clinic between Jan 23, 2004, and July 8, 2013, in England. Patients completed a self-report questionnaire before clinical assessment, recording lifetime experience of depression, suicidal ideation, and suicide plans or attempts, along with self-reported measures of autistic traits and empathy. We compared the rate of suicidal ideation in the sample with published rates of suicidal ideation in the general population and other clinical groups. We also assessed associations between depression, autistic traits, empathy, and likelihood of suicidal ideation and suicide plans or attempts.
Findings 374 adults (256 men and 118 women) were diagnosed with Asperger's syndrome in the study period. 243 (66%) of 367 respondents self-reported suicidal ideation, 127 (35%) of 365 respondents self-reported plans or attempts at suicide, and 116 (31%) of 368 respondents self-reported depression. Adults with Asperger's syndrome were significantly more likely to report lifetime experience of suicidal ideation than were individuals from a general UK population sample (odds ratio 9.6 [95% CI 7.6-11.9], p < 0.0001), people with one, two, or more medical illnesses (p < 0. 0001), or people with psychotic illness (p = 0.019). Compared with people diagnosed with Asperger's syndrome without depression, people with Asperger's syndrome and depression were more likely to report suicidal ideation (p < 0.0001) and suicide plans or attempts (p < 0.0001).
Interpretation Our findings lend support to anecdotal reports of increased rates of suicidal ideation in adults with Asperger's syndrome, and depression as an important potential risk factor for suicidality in adults with this condition. Because adults with Asperger's syndrome often have many risk factors for secondary depression (eg, social isolation or exclusion, and unemployment), our findings emphasise the need for appropriate service planning and support to reduce risk in this clinical group. Copyright (C) Cassidy et al.
C1 [Cassidy, Sarah; Allison, Carrie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Bradley, Paul; Robinson, Janine; McHugh, Meghan; Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge, England.
RP Cassidy, S (reprint author), Coventry Univ, Ctr Res Psychol Behav & Achievement, Coventry CV1 5FB, W Midlands, England.
EM sarah.cassidy@coventry.ac.uk
FU Three Guineas Trust; Baily Thomas Foundation; Medical Research Council;
NIHR-CLAHRC-EoE; Cambridgeshire and Peterborough NHS Foundation Trust
(CPFT); Autism Research Trust
FX The Three Guineas Trust, the Baily Thomas Foundation, the Medical
Research Council, NIHR-CLAHRC-EoE, Cambridgeshire and Peterborough NHS
Foundation Trust (CPFT), and the Autism Research Trust.
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NR 33
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2215-0374
J9 LANCET PSYCHIAT
JI Lancet Psychiatry
PD JUL
PY 2014
VL 1
IS 2
BP 142
EP 147
DI 10.1016/S2215-0366(14)70248-2
PG 6
WC Psychiatry
SC Psychiatry
GA AR6OP
UT WOS:000343703200026
ER
PT J
AU Reynolds, BM
Gast, DL
Luscre, D
AF Reynolds, Brooke M.
Gast, David L.
Luscre, Deanna
TI Self-Management of Social Initiations by Kindergarten Students With
Disabilities in the General Education Classroom
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE self-management; social initiations; social interactions
ID AUTISM; CHILDREN; INTERVENTION; ADOLESCENTS; BEHAVIOR; PRESCHOOLERS;
ATTENTION; ASKING; SKILLS
AB The effectiveness of a self-management intervention on social interaction behaviors was evaluated for students with disabilities and social deficits. Four students enrolled in a general education kindergarten classroom were taught to self-monitor social initiations during nonstructured social time via a digital wrist counter. The number of social initiations and concurrent engagement in social interactions were recorded in 10-min observation sessions, within the context of a multiple baseline design across participants. Generalization was assessed in novel social situations through pre- and postintervention sessions. The number of social initiations and mean percentage of intervals participants were interacting increased for all participants. Topics for future research and implications for special education professionals are discussed.
C1 [Reynolds, Brooke M.; Gast, David L.; Luscre, Deanna] Univ Georgia, Athens, GA 30602 USA.
RP Reynolds, BM (reprint author), Univ Georgia, 516 Aderhold Hall, Athens, GA 30602 USA.
EM brookemreynolds@gmail.com
CR Alpern G. D., 2008, DEV PROFILE 3
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NR 34
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1098-3007
EI 1538-4772
J9 J POSIT BEHAV INTERV
JI J. Posit. Behav. Interv.
PD JUL
PY 2014
VL 16
IS 3
BP 137
EP 148
DI 10.1177/1098300713483176
PG 12
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA AQ5DB
UT WOS:000342824100003
ER
PT J
AU Axelrod, MI
Bellini, S
Markoff, K
AF Axelrod, Michael I.
Bellini, Scott
Markoff, Kimberly
TI Video Self-Modeling: A Promising Strategy for Noncompliant Children
SO BEHAVIOR MODIFICATION
LA English
DT Article
DE behavior; noncompliant children; intervention; video self-modeling
ID PEER INTERACTIONS; CLASSROOM-BEHAVIOR; FEEDBACK; STUDENTS;
INTERVENTIONS; DISORDERS; AUTISM
AB The current study investigated the effects of a Video Self-Modeling (VSM) intervention on the compliance and aggressive behavior of three children placed in a psychiatric hospital. Each participant viewed brief video clips of himself following simple adult instructions just prior to the school's morning session and the unit's afternoon free period. A multiple baseline design across settings was used to evaluate the effects of the VSM intervention on compliance with staff instructions and aggressive behavior on the hospital unit and in the hospital-based classroom. All three participants exhibited higher levels of compliance and fewer aggressive episodes during the intervention condition, and the effects were generally maintained when the intervention was withdrawn. Hospital staff reported at the conclusion of the study that the VSM intervention was easy to implement and beneficial for all participants. Taken altogether, the results suggest VSM is a promising, socially acceptable, and proactive intervention approach for improving the behavior of noncompliant children.
C1 [Axelrod, Michael I.] Univ Wisconsin, Ctr Human Dev, Eau Claire, WI 54702 USA.
[Axelrod, Michael I.] Univ Wisconsin, Dept Psychol, Eau Claire, WI 54702 USA.
[Bellini, Scott] Indiana Univ, Sch Psychol, Bloomington, IN 47405 USA.
[Bellini, Scott] Indiana Univ, Social Skill Res Clin, Bloomington, IN 47405 USA.
[Markoff, Kimberly] Indiana Univ, Sch Psychol Program, Bloomington, IN 47405 USA.
RP Axelrod, MI (reprint author), Univ Wisconsin, Dept Psychol, HSS 160A, Eau Claire, WI 54702 USA.
EM axelromi@uwec.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Baker S. D., 2009, ED TREATMENT CHILDRE, V32, P403, DOI DOI 10.1353/ETC.0.0065
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Nikopoulos CK, 2004, J APPL BEHAV ANAL, V37, P93, DOI 10.1901/jaba.2004.37-93
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NR 25
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0145-4455
EI 1552-4167
J9 BEHAV MODIF
JI Behav. Modificat.
PD JUL
PY 2014
VL 38
IS 4
BP 567
EP 586
DI 10.1177/0145445514521232
PG 20
WC Psychology, Clinical
SC Psychology
GA AQ3HB
UT WOS:000342681000006
ER
PT J
AU Bronson, SL
Bale, TL
AF Bronson, Stefanie L.
Bale, Tracy L.
TI Prenatal Stress-Induced Increases in Placental Inflammation and
Offspring Hyperactivity Are Male-Specific and Ameliorated by Maternal
Antiinflammatory Treatment
SO ENDOCRINOLOGY
LA English
DT Article
ID PITUITARY-ADRENAL AXIS; IMMUNE ACTIVATION; BRAIN-DEVELOPMENT;
NUCLEUS-ACCUMBENS; DOPAMINERGIC SYSTEM; PREFRONTAL CORTEX;
SEXUAL-DIMORPHISM; RECEPTOR-BINDING; GENE-EXPRESSION; FETAL-BRAIN
AB Adverse experiences during gestation such as maternal stress and infection are known risk factors for neurodevelopmental disorders, including schizophrenia, autism, and attention deficit/hyperactivity disorder. The mechanisms by which these distinct exposures may confer similar psychiatric vulnerability remain unclear, although likely involve pathways common to both stress and immune responses at the maternal-fetal interface. We hypothesized that maternal stress-induced activation of immune pathways within the placenta, the sex-specific maternal-fetal intermediary, may contribute to prenatal stress programming effects on the offspring. Therefore, we assessed for markers indicative of stress-induced placental inflammation, and examined the ability of maternal nonsteroidal antiinflammatory drug (NSAID) treatment to ameliorate placental effects and thereby rescue the stress-dysregulation phenotype observed in our established mouse model of early prenatal stress (EPS). As expected, placental gene expression analyses revealed increased levels of immune response genes, including the proinflammatory cytokines IL-6 and IL-1 beta, specifically in male placentas. NSAID treatment partially ameliorated these EPS effects. Similarly, in adult offspring, males displayed stress-induced locomotor hyperactivity, a hallmark of dopaminergic dysregulation, which was ameliorated by maternal NSAID treatment. Fitting with these outcomes and supportive of dopamine pathway involvement, expression of dopamine D1 and D2 receptors was altered by EPS in males. These studies support an important interaction between maternal stress and a proinflammatory state in the long-term programming effects of maternal stress.
C1 [Bronson, Stefanie L.; Bale, Tracy L.] Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
RP Bale, TL (reprint author), Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA.
EM tbale@vet.upenn.edu
FU National Institutes of Health [MH087597, MH091258]
FX This work was supported by National Institutes of Health Grants MH087597
and MH091258.
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NR 97
TC 6
Z9 6
PU ENDOCRINE SOC
PI WASHINGTON
PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA
SN 0013-7227
EI 1945-7170
J9 ENDOCRINOLOGY
JI Endocrinology
PD JUL
PY 2014
VL 155
IS 7
BP 2635
EP 2646
DI 10.1210/en.2014-1040
PG 12
WC Endocrinology & Metabolism
SC Endocrinology & Metabolism
GA AP8QI
UT WOS:000342343400030
PM 24797632
ER
PT J
AU Chi, DL
AF Chi, Donald L.
TI Caregivers Who Refuse Preventive Care for Their Children: The
Relationship Between Immunization and Topical Fluoride Refusal
SO AMERICAN JOURNAL OF PUBLIC HEALTH
LA English
DT Article
ID COMMUNITY WATER FLUORIDATION; PERSONAL-BELIEF EXEMPTIONS; AUTISM
SPECTRUM DISORDERS; HEALTH SUPERVISION VISITS; LOW-INCOME CHILDREN;
CHILDHOOD IMMUNIZATION; ELEMENTARY-SCHOOL; DECISION-MAKING;
UNITED-STATES; ORAL-HEALTH
AB Objectives. The aim of this study was to examine caregivers' refusal of preventive medical and dental care for children.
Methods. Prevalence rates of topical fluoride refusal based on dental records and caregiver self-reports were estimated for children treated in 3 dental clinics in Washington State. A 60-item survey was administered to 1024 caregivers to evaluate the association between immunization and topical fluoride refusal. Modified Poisson regression models were used to estimate prevalence rate ratios (PRRs).
Results. The prevalence of topical fluoride refusal was 4.9% according to dental records and 12.7% according to caregiver self-reports. The rate of immunization refusal was 27.4%. In the regression models, immunization refusalwas significantly associated with topical fluoride refusal (dental record PRR = 1.61; 95% confidence interval [CI] = 1.32, 1.96; P < .001; caregiver self-report PRR = 6.20; 95% CI = 3.21, 11.98; P < .001). Caregivers younger than 35 years were significantly more likely than older caregivers to refuse both immunizations and topical fluoride (P < .05).
Conclusions. Caregiver refusal of immunizations is associated with topical fluoride refusal. Future research should identify the behavioral and social factors related to caregiver refusal of preventive care with the goal of developing multidisciplinary strategies to help caregivers make optimal preventive care decisions for children.
C1 Univ Washington, Sch Dent, Dept Oral Hlth Sci, Seattle, WA 98195 USA.
RP Chi, DL (reprint author), Univ Washington, Sch Dent, Dept Oral Hlth Sci, Box 357475, Seattle, WA 98195 USA.
EM dchi@uw.edu
FU National Institute of Dental and Craniofacial Research of the National
Institutes of Health [K08DE020856, L60MD003921, R03DE021439,
U54DE019346]; University of Washington Institute for Translational
Health Sciences [UL1RR025014]; William T. Grant Foundation Scholars
Program
FX This study was supported by the National Institute of Dental and
Craniofacial Research of the National Institutes of Health (grants
K08DE020856, L60MD003921, R03DE021439, and U54DE019346), the University
of Washington Institute for Translational Health Sciences (grant
UL1RR025014), and the William T. Grant Foundation Scholars Program.
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NR 99
TC 1
Z9 1
PU AMER PUBLIC HEALTH ASSOC INC
PI WASHINGTON
PA 800 I STREET, NW, WASHINGTON, DC 20001-3710 USA
SN 0090-0036
EI 1541-0048
J9 AM J PUBLIC HEALTH
JI Am. J. Public Health
PD JUL
PY 2014
VL 104
IS 7
BP 1327
EP 1333
DI 10.2105/AJPH.2014.301927
PG 7
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP1EM
UT WOS:000341809500051
PM 24832428
ER
PT J
AU Williams, KE
Hendy, HM
AF Williams, Keith E.
Hendy, Helen M.
TI Variables Associated With the Use of Complete Oral Calorie Supplements
in Children With Feeding Problems
SO JOURNAL OF NUTRITION EDUCATION AND BEHAVIOR
LA English
DT Article
DE supplements; child; developmental disability; feeding problems;
underweight; overweight; parent; meal
ID MEALTIME ACTION SCALE; DISABILITIES; BEHAVIOR
AB Objective: To examine child and parent variables associated with complete oral calorie supplement use among children with feeding problems.
Design: Correlational examination of data from patient intake surveys.
Setting: Hospital-based feeding program.
Participants: Participants included 281 parents of children referred to a hospital-based feeding clinic, including 114 who received supplements (70.2% boys; mean age, 60.1 months) and 167 who did not receive (79.6% boys; mean age, 67.5 months).
Variables Measured: Children's age, gender, weight status, diagnostic category (no special needs, autism, or other special needs), supplement intake, oral motor problems, child mealtime behavior (using the Child Eating Behavior Questionnaire), parent feeding practices (using the Parent Mealtime Action Scale), and diet variety for child and parent.
Analysis: Chi-square analyses compared children who did and did not receive supplements for their percentage of gender, diagnostic, and weight status categories; t tests or Mann-Whitney U tests compared children who did and did not receive supplements, for age, oral motor problems, children's mealtime behavior, parent feeding practices, and diet variety.
Results: Compared with children who did not receive nutritional supplements, those who did were younger (P < .01) and more underweight (P < .001), and showed less Food Responsiveness (P < .001), less Food Enjoyment (P < .001), more Food Satiety (P < .001, and more Slow Eating (P < .001), and their parents were more likely to use Insistence on Eating (P < .001).
Conclusions: Whereas supplement use was related to underweight, 78.2% of children receiving them were normal weight or overweight, which suggests that supplements are being used to address mealtime selective eating. The use of supplements should be considered carefully because they do not appear to increase diet variety and may increase the chance of overweight over time.
C1 [Williams, Keith E.] Penn State Hershey Med Ctr, Feeding Program, Hershey, PA 17033 USA.
[Hendy, Helen M.] Penn State Univ, Psychol Program, Schuylkill Haven, PA USA.
RP Williams, KE (reprint author), Penn State Hershey Med Ctr, Feeding Program, Hershey, PA 17033 USA.
EM kwilliams2@hmc.psu.edu
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NR 19
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1499-4046
EI 1878-2620
J9 J NUTR EDUC BEHAV
JI J. Nutr. Educ. Behav.
PD JUL-AUG
PY 2014
VL 46
IS 4
BP 236
EP 240
DI 10.1016/j.jneb.2014.01.003
PG 5
WC Education, Scientific Disciplines; Nutrition & Dietetics
SC Education & Educational Research; Nutrition & Dietetics
GA AP5RB
UT WOS:000342135300004
PM 24629907
ER
PT J
AU Kanemura, H
Sano, F
Ohyama, T
Sugita, K
Aihara, M
AF Kanemura, Hideaki
Sano, Fumikazu
Ohyama, Tetsuo
Sugita, Kanji
Aihara, Masao
TI Effect of levetiracetam on behavioral problems in pervasive
developmental disorder children with epilepsy
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Levetiracetam; Pervasive developmental disorder (PDD); Refractory
epilepsy; EEG paroxysmal abnormalities; Behavior; Frontal
ID INTERICTAL EPILEPTIFORM DISCHARGES; AUTISM SPECTRUM DISORDERS; CHILDHOOD
EPILEPSY; REFRACTORY EPILEPSY; EEG ABNORMALITIES; FOLLOW-UP; EFFICACY;
SPIKES; FREQUENCY; SEIZURES
AB Aims: We investigated the relationship between behavioral problems, location of electroencephalogram (EEG) paroxysmal abnormalities (PA), and treatment with levetiracetam in children with pervasive developmental disorder (PDD) and epilepsy.
Methods: Twelve PDD children with epilepsy were included in the study. All patients had EEG PA (frontal spikes, 8; rolandic, 3; generalized, 1). After a 3-month baseline period, patients were given levetiracetam with an initial dose of 10 mg/kg/day for the first week, followed by increments of 5 mg/kg/day every week. Levetiracetam dosage was then adjusted up to a maximum of 60 mg/kg/day. EEG recordings were performed every 3 months, focusing on PA frequency. We counted the frequency of seizures and EEG PA, and scored instances of panic/aggressive behaviors.
Results: Eight (66.7%) of the 12 patients were considered to be responders to clinical seizures and EEG findings (>= 50% reduction in both seizures and PA frequency). Six (75%) of these eight patients were considered to be responders for behavioral problems (>= 50% reduction in panic/aggressive behavior). These six patients had frontal EEG paroxysms, whereas the remaining two patients without behavioral responses had rolandic EEG paroxysms. Patients with frontal PA showed a significantly higher correlation between EEG/clinical seizures and behavioral improvements (p < 0.05).
Conclusion: The present data indicated the usefulness of LEV in reducing behavioral problems related to the reduction of seizures and frontal spikes in PDD for some but not all of the patients. Thus, levetiracetam represents an important addition to treatment for PDD children with epilepsy presenting with frontal EEG paroxysms. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Kanemura, Hideaki; Sano, Fumikazu; Ohyama, Tetsuo; Sugita, Kanji] Univ Yamanashi, Fac Med, Dept Paediat, Kofu, Yamanashi 4093898, Japan.
[Aihara, Masao] Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Kofu, Yamanashi 4093898, Japan.
RP Kanemura, H (reprint author), Univ Yamanashi, Fac Med, Dept Paediat, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
EM ykimu@yamanashi.ac.jp
CR Aeby A, 2005, EPILEPSIA, V46, P1937, DOI 10.1111/j.1528-1167.2005.00337.x
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 31
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1090-3798
EI 1532-2130
J9 EUR J PAEDIATR NEURO
JI Eur. J. Paediatr. Neurol.
PD JUL
PY 2014
VL 18
IS 4
BP 482
EP 488
DI 10.1016/j.ejpn.2014.03.007
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AL0OA
UT WOS:000338825000005
PM 24703761
ER
PT J
AU Banji, D
Banji, OJF
Ragini, M
Annamalai, AR
AF Banji, David
Banji, Otilia J. F.
Ragini, M.
Annamalai, A. R.
TI Carbosulfan exposure during embryonic period can cause developmental
disability in rats
SO ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY
LA English
DT Article
DE Carbosulfan; Embryonic period; Behavior; Acetylcholinesterase; Oxidative
stress
ID ACETYLCHOLINESTERASE ACTIVITY; PESTICIDES; ECOTOXICITY; GLUTATHIONE;
CEREBELLUM; CARBOFURAN; REDUCTASE; SYSTEM; AUTISM; BRAIN
AB Carbosulfan, a wide spectrum pesticide is used to improve crop productivity. During their application, they disperse in the environment exerting harmful consequences on human health. We speculated that exposure to carbosulfan, a carbamate insecticide during early development can affect neurogenesis and synaptic development. In order to test this, pregnant dams were exposed to carbosulfan in four doses (0.5, 1, 2, and 4 mg/kg) during the embryonic period (ED 1-15). Offspring were evaluated for neurobehavioral changes, oxidative markers, acetylcholinesterase levels, and formation of carbonylated proteins. Histopathology of the cerebellum was carried out. Carbosulfan exposure produced alteration in sensorimotor tasks, motor function and elevated anxiety in pups. Carbosulfan affected growth rate of pups in a dose dependent manner. A significant increase in melondialdehyde, a lipid peroxide marker, carbonylated proteins and a dose dependent decrease in the levels of glutathione and glutathione peroxidase were observed. Carbosulfan produced a decline in acetylcholinesterase levels which might contribute to poor exploratory behavior. Distinct changes in the Purkinje cells were observed as the dose of carbosulfan increased. Largely, alteration in behavior can be due to oxidative damage, thereby, affecting neurogenesis, synaptogenesis and myelination. Therefore the propensity of carbosulfan to induce developmental disability is high and should be cautiously avoided during embryonic development. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Banji, David; Banji, Otilia J. F.; Ragini, M.] Nalanda Coll Pharm, Dept Pharmacol & Toxicol, Nalgonda 508001, Andhra Pradesh, India.
[Annamalai, A. R.] Annamalai Univ, Rajah Muthiah Med Coll, Dept Pharmacol, Chidambaram, Tamil Nadu, India.
RP Banji, D (reprint author), Nalanda Coll Pharm, Dept Pharmacol & Toxicol, Hyderabad Rd, Nalgonda 508001, Andhra Pradesh, India.
EM davidbanji@gmail.com
FU Nalanda Educational Society, Nalgonda, Andhra Pradesh, India
[NES/55/RG/2012]
FX The authors express their gratitude to Nalanda Educational Society,
grant number is NES/55/RG/2012 dated 15-11-2012, Nalgonda 508001, Andhra
Pradesh, India for providing financial support and facilities for
carrying out this work.
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NR 52
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1382-6689
EI 1872-7077
J9 ENVIRON TOXICOL PHAR
JI Environ. Toxicol. Pharmacol.
PD JUL
PY 2014
VL 38
IS 1
BP 230
EP 238
DI 10.1016/j.etap.2014.05.009
PG 9
WC Environmental Sciences; Pharmacology & Pharmacy; Toxicology
SC Environmental Sciences & Ecology; Pharmacology & Pharmacy; Toxicology
GA AO6NN
UT WOS:000341468900025
PM 24973665
ER
PT J
AU Daunhauer, LA
Fidler, DJ
Hahn, L
Will, E
Lee, NR
Hepburn, S
AF Daunhauer, Lisa A.
Fidler, Deborah J.
Hahn, Laura
Will, Elizabeth
Lee, Nancy Raitano
Hepburn, Susan
TI Profiles of Everyday Executive Functioning in Young Children With Down
Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE executive function; cognition; Down syndrome; trisomy 21
ID BEHAVIOR RATING INVENTORY; CONFIRMATORY FACTOR-ANALYSIS; PREFRONTAL
CORTEX; PRESCHOOL-CHILDREN; EFFORTFUL CONTROL; UNITED-STATES; FRAGILE-X;
MEMORY; DISORDERS; AUTISM
AB We investigated executive functioning (EF) in children with Down syndrome (DS; n = 25) and typically developing (TD) children matched for mental age (MA; n = 23) using the Behavior Rating Inventory of Executive Function-Preschool. We sought to (1) compare children with DS to a developmentally matched control group, and (2) to characterize the EF profile of children with DS. Across teacher and parent reports, significant deficits in working memory and planning were observed in the DS group. Parents, but not teachers, of children with DS also reported difficulties in inhibitory control relative to the comparison group. Results extend earlier findings regarding EF impairments in children with DS. The complementary role inhibitory control may play in this profile is discussed.
C1 [Daunhauer, Lisa A.; Fidler, Deborah J.; Will, Elizabeth] Colorado State Univ, Ft Collins, CO 80523 USA.
[Hahn, Laura] Univ Kansas, Lawrence, KS 66045 USA.
[Lee, Nancy Raitano] NIMH, Bethesda, MD USA.
[Hepburn, Susan] Univ Colorado, Sch Med, Boulder, CO 80309 USA.
RP Daunhauer, LA (reprint author), Colorado State Univ, Room 447,Behav Sci Bldg, Ft Collins, CO 80523 USA.
EM Lisa.Daunhauer@colostate.edu
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NR 67
TC 2
Z9 2
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JUL
PY 2014
VL 119
IS 4
BP 303
EP 318
DI 10.1352/1944-7558-119.4.303
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900002
PM 25007296
ER
PT J
AU Turkstra, LS
Abbeduto, L
Meulenbroek, P
AF Turkstra, Lyn S.
Abbeduto, Leonard
Meulenbroek, Peter
TI Social Cognition in Adolescent Girls With Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE social cognition; fragile X syndrome; executive function; social
outcome; adolescent
ID TRAUMATIC BRAIN-INJURY; HIGH-FUNCTIONING AUTISM; THEORY-OF-MIND;
EXECUTIVE FUNCTION; ASPERGER-SYNDROME; FRONTOTEMPORAL DEMENTIA; LANGUAGE
IMPAIRMENT; TURNER-SYNDROME; SELF-CONCEPT; EYES TEST
AB This study aimed to characterize social cognition, executive functions (EFs), and everyday social functioning in adolescent girls with fragile X syndrome, and identify relationships among these variables. Participants were 20 girls with FXS and 20 age-matched typically developing peers. Results showed significant between-groups differences in social cognition, accounted for by differences in IQ and language. Within the FXS group, IQ and language were related to social cognition; parent-reported social functioning was related to language and EFs; and self-reported social functioning was generally good and not related to cognitive or social cognition variables. Results suggest that intervention might focus on managing language and cognitive contributions to social functioning, rather than social cognition, and underscore the importance of considering parent and adolescent perspectives.
C1 [Turkstra, Lyn S.] Univ Wisconsin, Dept Commun Sci & Disorders, Madison, WI 53706 USA.
[Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Abbeduto, Leonard] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Meulenbroek, Peter] Univ Wisconsin, Madison, WI 53706 USA.
RP Turkstra, LS (reprint author), Univ Wisconsin, Dept Commun Sci & Disorders, 1975 Willow Dr, Madison, WI 53706 USA.
EM lsturkstra@wisc.edu
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NR 99
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JUL
PY 2014
VL 119
IS 4
BP 319
EP 339
DI 10.1352/1944-7558-119.4.319
PG 21
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900003
PM 25007297
ER
PT J
AU Schroeder, SR
Marquis, JG
Reese, RM
Richman, DM
Mayo-Ortega, L
Oyama-Ganiko, R
LeBlanc, J
Brady, N
Butler, MG
Johnson, T
Lawrence, L
AF Schroeder, Stephen R.
Marquis, Janet G.
Reese, R. Matthew
Richman, David M.
Mayo-Ortega, Liliana
Oyama-Ganiko, Rosa
LeBlanc, Judith
Brady, Nancy
Butler, Merlin G.
Johnson, Tiffany
Lawrence, Linda
TI Risk Factors for Self-Injury, Aggression, and Stereotyped Behavior Among
Young Children At Risk for Intellectual and Developmental Disabilities
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE aggression; self-injurious behavior; stereotyped behavior; infants;
toddlers; intellectual and developmental disabilities
ID AUTISM SPECTRUM DISORDER; LONG-TERM TREATMENT; CHALLENGING BEHAVIORS;
PROBLEMS-INVENTORY; INFANT SCREEN; REPETITIVE-BEHAVIOR;
MENTAL-RETARDATION; ANIMAL-MODELS; TODDLERS; INDIVIDUALS
AB Before the 1990s, research on the early identification and prevention of severe behavior disorders (SBDs), such as aggression, self-injury, and stereotyped behavior, among young children with intellectual and developmental disabilities (IDD), was mostly done with children 3 years or older. More recent work suggests that signs of SBDs may occur as early as 6 months in some infants. The present study combined a cross-sectional and longitudinal approach to examine SBDs in 180 young children aged 4-48 months recruited through mass screening, then receiving an interdisciplinary evaluation and sixmonth follow-ups for one year. Twelve potential risk factors related to SBDs were examined. Eight of these risk factors, including age, gender, diagnosis, intellectual and communication levels, visual impairment, parent education, family income, were differentially related to scores for Aggression, SIB, and Stereotyped Behavior subscales on the Behavior Problems Inventory (BPI-01) at initial interdisciplinary evaluation. BPI-01 scores decreased over the year for 57% of the children and increased for 43%. The amount of decrease on each BPI-01 subscale varied with age, gender, and diagnosis.
C1 [Schroeder, Stephen R.; LeBlanc, Judith] Univ Kansas, Life Span Inst, Lawrence, KS 66045 USA.
[Marquis, Janet G.; Reese, R. Matthew; Brady, Nancy] Univ Kansas, Lawrence, KS 66045 USA.
[Richman, David M.] Texas Tech Univ, Lubbock, TX 79409 USA.
[Mayo-Ortega, Liliana; Oyama-Ganiko, Rosa] Ctr Ann Sullivan Peru, Lima, Peru.
[Butler, Merlin G.; Johnson, Tiffany; Lawrence, Linda] Univ Kansas, Med Ctr, Lawrence, KS 66045 USA.
RP Schroeder, SR (reprint author), Univ Kansas, Life Span Inst, 1000 Sunnyside Ave, Lawrence, KS 66045 USA.
EM srs@ku.edu
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NR 73
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1944-7515
EI 1944-7558
J9 AJIDD-AM J INTELLECT
JI AJIDD-Am. J. Intellect. Dev. Disabil.
PD JUL
PY 2014
VL 119
IS 4
BP 351
EP 370
DI 10.1352/1944-7558-119.4.351
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO3XP
UT WOS:000341270900005
PM 25007299
ER
PT J
AU McCullough, E
Stedmon, J
Dallos, R
AF McCullough, Elaine
Stedmon, Jacqui
Dallos, Rudi
TI Narrative responses as an aid to understanding the presentation of
maltreated children who meet criteria for autistic spectrum disorder and
reactive attachment disorder: A case series study
SO CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autistic spectrum disorder; qualitative research; mentalisation; Story
Stems; attachment; theory of mind
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; FALSE-BELIEF; DIFFICULTIES
QUESTIONNAIRE; MENTAL-HEALTH; NORMAL ADULTS; RIGHT BRAIN; MIND; EMOTION;
LANGUAGE
AB This paper offers research case studies of four severely maltreated children who had received a diagnosis of autistic spectrum disorder. A range of measures were employed to explore the children's psychological and emotional functioning, including Theory of Mind assessment (Sally-Anne Test), attachment measures (Story Stems Assessment Profile and Relationship Problems Questionnaire), along with measures to assess general psychological and emotional well-being. Contrary to the diagnosis, the children did not reveal a theory of mind deficit. However, they did indicate a profile of difficulties in mentalisation on the Story Stems. The findings are discussed in terms of the extent to which mentalisation and theory of mind are influenced by situational factors, especially the anxiety evoked by the Story Stem attachment scenarios. Clinical implications regarding mentalisation as a state vs. trait phenomenon are discussed.
C1 [McCullough, Elaine; Stedmon, Jacqui; Dallos, Rudi] Univ Plymouth, Plymouth PL4 8AA, Devon, England.
RP McCullough, E (reprint author), Family Futures, 3 & 4 Floral Pl,7-9 Northampton Grove, London N1 2PL, England.
EM Elaine_McCullough@hotmail.co.uk
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NR 53
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1359-1045
EI 1461-7021
J9 CLIN CHILD PSYCHOL P
JI Clin. Child Psychol. Psychiatry
PD JUL
PY 2014
VL 19
IS 3
BP 392
EP 411
DI 10.1177/1359104513503353
PG 20
WC Psychology, Clinical; Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AO0BS
UT WOS:000340974700006
PM 24121230
ER
PT J
AU Gomez, R
Corr, PJ
AF Gomez, Rapson
Corr, Philip J.
TI ADHD and personality: A meta-analytic review
SO CLINICAL PSYCHOLOGY REVIEW
LA English
DT Article
DE Meta-analysis; ADHD; Inattention; Hyperactivity; Personality;
Five-Factor Model
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; AUTISM SPECTRUM DISORDERS; LATENT STRUCTURE; KOREAN CHILDREN;
5-FACTOR MODEL; PATHWAY MODEL; EFFECT SIZE; TEMPERAMENT; CHARACTER
AB We report a meta-analysis of up to 40 data sets that examined the personality dimensions in the Five-Factor Model (FFM) and the integrated Five-Factor Model (IFFM) in relation to ADHD symptom domains of inattention (IA) and hyperactivity/impulsivity (HI). The IFFM incorporated the dimensions of other personality models (in particular, those of Eysenck, Tellegen, and Cloninger, as well as the FFM). Major findings were: (1) IA and HI were both associated with low conscientious inhibition/conscientiousness, and low agreeable inhibition/agreeableness, and with high negative emotionality/neurotidsm; (2) conscientious inhibition and conscientiousness were more strongly related to IA than HI; (3) agreeable inhibition and agreeableness were more strongly related to HI than IA; and (4) the association of conscientious inhibition and conscientiousness with HI was moderated by age group and source from where participants were recruited (associations were stronger in children than adults, and clinical samples than community samples). These findings are discussed in relation to single and multiple pathway theories, underlying factors and processes for the personality-ADHD link, and clinical implications. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gomez, Rapson] Federat Univ, Ballarat, Vic 3353, Australia.
[Corr, Philip J.] City Univ London, London, England.
RP Gomez, R (reprint author), Federat Univ, Sch Hlth Sci, POB 663, Ballarat, Vic 3353, Australia.
EM rapson.gomez@federation.edu.au
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NR 94
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0272-7358
EI 1873-7811
J9 CLIN PSYCHOL REV
JI Clin. Psychol. Rev.
PD JUL
PY 2014
VL 34
IS 5
BP 376
EP 388
DI 10.1016/j.cpr.2014.05.002
PG 13
WC Psychology, Clinical
SC Psychology
GA AO1JD
UT WOS:000341067500002
PM 24929793
ER
PT J
AU Kothare, SV
Singh, K
Hochman, T
Chalifoux, JR
Staley, BA
Weiner, HL
Menzer, K
Devinsky, O
AF Kothare, Sanjeev V.
Singh, Kanwaljit
Hochman, Tsivia
Chalifoux, Jason R.
Staley, Brigid A.
Weiner, Howard L.
Menzer, Kimberly
Devinsky, Orrin
TI Genotype/phenotype in tuberous sclerosis complex: Associations with
clinical and radiologic manifestations
SO EPILEPSIA
LA English
DT Article
DE Tuberous sclerosis complex; Epilepsy; Autism spectrum disorders
ID AUTISM SPECTRUM DISORDERS; GIANT-CELL TUMORS; CHILDREN; EPILEPSY
AB Objectives: Patients with tuberous sclerosis complex (TSC) frequently have autism spectrum disorders and neuropsychiatric disorders. Subependymal giant cell astrocytomas (SEGAs) have been reported to occur in 5-20% of patients with TSC; however, the relationship between SEGAs and neuropsychiatric disorders in TSC remains unknown. We utilized a large multicenter database to study associations between SEGAs and neuropsychiatric disorders in patients with TSC.
Methods: Associations between the presence of SEGAs and neuropsychiatric disorders were examined in a retrospective review of 916 patients enrolled in the TSC Natural History Database Project (Tuberous Sclerosis Alliance).
Results: Among the 916 TSC patients, 226 had SEGAs (25%) and 155 had autism spectrum disorder (ASD) (17%). Compared to patients without SEGAs, patients with SEGAs were 1.83 (95% confidence interval [CI] 1.26-2.66) times more likely to have ASD. No significant relationship was found between SEGAs and intellectual disability, attention-deficit/hyperactive disorder, or major depressive disorder.
Significance: The clinical presentation of TSC is highly variable and not well understood. These data show that SEGAs are associated with ASD in patients with TSC, suggesting that the pathologic changes leading to SEGA formation may also predispose patients to ASD.
C1 [Kothare, Sanjeev V.; Chalifoux, Jason R.; Weiner, Howard L.; Menzer, Kimberly; Devinsky, Orrin] NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
[Singh, Kanwaljit] Harvard Univ, Childrens Hosp, Sch Med, Div Clin Neurophysiol,Dept Neurol, Boston, MA 02115 USA.
[Singh, Kanwaljit] Harvard Univ, Sch Med, Massachusetts Gen Hosp Children, Lurie Ctr, Boston, MA USA.
[Hochman, Tsivia] NYU, Langone Med Ctr, Div Biostat, New York, NY USA.
[Staley, Brigid A.; Weiner, Howard L.] NYU, Dept Neurosurg, Langone Med Ctr, New York, NY 10016 USA.
RP Kothare, SV (reprint author), NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
EM sanjeev.kothare@nyumc.org
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NR 21
TC 0
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD JUL
PY 2014
VL 55
IS 7
BP 1020
EP 1024
DI 10.1111/epi.12627
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN4YI
UT WOS:000340595500015
PM 24754401
ER
PT J
AU Kothare, SV
Singh, K
Chalifoux, JR
Staley, BA
Weiner, HL
Menzer, K
Devinsky, O
AF Kothare, Sanjeev V.
Singh, Kanwaljit
Chalifoux, Jason R.
Staley, Brigid A.
Weiner, Howard L.
Menzer, Kimberly
Devinsky, Orrin
TI Severity of manifestations in tuberous sclerosis complex in relation to
genotype
SO EPILEPSIA
LA English
DT Article
DE Tuberous sclerosis complex; Epilepsy; TSC mutations
ID AUTISM SPECTRUM DISORDERS; GENE-PRODUCTS; TSC2 GENE; EPILEPSY; HAMARTIN;
MUTATIONS
AB Objective: Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC1 and TSC2 genotype with patient and disease characteristics in a retrospective review of a large TSC Natural History Database consisting of 919 patients with TSC.
Methods: Univariate logistic regression was conducted to evaluate the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics.
Results: As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002).
Significance: The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms.
C1 [Kothare, Sanjeev V.; Singh, Kanwaljit; Chalifoux, Jason R.; Weiner, Howard L.; Menzer, Kimberly; Devinsky, Orrin] NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
[Singh, Kanwaljit] Univ Massachusetts, Sch Med, Dept Pediat Neurol, Worcester, MA USA.
[Staley, Brigid A.; Weiner, Howard L.] NYU, Dept Neurosurg, Langone Med Ctr, New York, NY 10016 USA.
RP Kothare, SV (reprint author), NYU, Dept Neurol, Langone Med Ctr, Comprehens Epilepsy Ctr, New York, NY 10016 USA.
EM Sanjeev.Kothare@nyumc.org
CR Au Kit Sing, 2007, Genet Med, V9, P88, DOI 10.1097/GIM.0b013e31803068c7
Berg AT, 2012, EPILEPSY BEHAV, V23, P193, DOI 10.1016/j.yebeh.2012.01.015
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Wu WE, 2013, EPILEPSY BEHAV, V27, P319, DOI 10.1016/j.yebeh.2013.02.018
NR 20
TC 1
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0013-9580
EI 1528-1167
J9 EPILEPSIA
JI Epilepsia
PD JUL
PY 2014
VL 55
IS 7
BP 1025
EP 1029
DI 10.1111/epi.12680
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN4YI
UT WOS:000340595500016
PM 24917535
ER
PT J
AU Greenslade, KJ
Coggins, TE
AF Greenslade, Kathryn J.
Coggins, Truman E.
TI Assessing young children's intention-reading in authentic communicative
contexts: preliminary evidence and clinical utility
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE assessment; children; intention-reading; social communication
ID JOINT ATTENTION; AUTISM; RELIABILITY; MIND; AGE; INVENTORY; LANGUAGE;
INFANCY
AB Background: Identifying what a communication partner is looking at (referential intention) and why (social intention) is essential to successful social communication, and may be challenging for children with social communication deficits. This study explores a clinical task that assesses these intention-reading abilities within an authentic context.
Aims: To gather evidence of the task's reliability and validity, and to discuss its clinical utility.
Methods & Procedures: The intention-reading task was administered to twenty 4-7-year-olds with typical development (TD) and ten with autism spectrum disorder (ASD). Task items were embedded in an authentic activity, and they targeted the child's ability to identify the examiner's referential and social intentions, which were communicated through joint attention behaviours. Reliability and construct validity evidence were addressed using established psychometric methods.
Outcomes & Results: Reliability and validity evidence supported the use of task scores for identifying children whose intention-reading warranted concern. Evidence supported the reliability of task administration and coding, and item-level codes were highly consistent with overall task performance. Supporting task validity, group differences aligned with predictions, with children with ASD exhibiting poorer and more variable task scores than children with TD. Also, as predicted, task scores correlated significantly with verbal mental age and ratings of parental concerns regarding social communication abilities.
Conclusions & Implications: The evidence provides preliminary support for the reliability and validity of the clinical task's scores in assessing young children's real-time intention-reading abilities, which are essential for successful interactions in school and beyond.
C1 [Greenslade, Kathryn J.; Coggins, Truman E.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98105 USA.
RP Greenslade, KJ (reprint author), Univ Washington, Dept Speech & Hearing Sci, Eagleson Hall,1417 NE 42nd St,Box 354875, Seattle, WA 98105 USA.
EM greenskj@uw.edu
FU National Institutes of Health [T32DC000033]
FX The first author was supported by a National Institutes of Health
training grant (Research Training Program in Speech and Hearing
Sciences: T32DC000033) while conducting the present research. The
authors thank the reviewers for their thoughtful contributions to
revisions of this paper. They also acknowledge their colleagues, Lesley
B. Olswang, PamelaCrooke, Julie Feuerstein and Amy Rodda, for cogent
comments. Declaration of interest: The authors report no conflicts of
interest. The authors alone are responsible for the content and writing
of the paper.
CR Allen M., 1979, INTRO MEASUREMENT TH
American Psychiatric Association, 2013, DIAGN STAT MAN, V5th
American Speech-Language-Hearing Association, 2006, GUID SPEECH LANG PAT
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BILLINGSLEY F, 1980, BEHAV ASSESS, V2, P229
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NR 33
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 463
EP 477
DI 10.1111/1460-6984.12076
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700005
PM 24684559
ER
PT J
AU Lerna, A
Esposito, D
Conson, M
Massagli, A
AF Lerna, Anna
Esposito, Dalila
Conson, Massimiliano
Massagli, Angelo
TI Long-term effects of PECS on social-communicative skills of children
with autism spectrum disorders: a follow-up study
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE Picture Exchange Communication System (PECS); autism spectrum disorders;
long-term effects; social and communicative skills
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; SYSTEM PECS;
YOUNG-CHILDREN; INTERVENTION; PREDICTORS; PRESCHOOLERS; INDIVIDUALS;
ACQUISITION; IMITATION
AB Background: The Picture Exchange Communication System (PECS) is a popular augmentative communication system frequently used with 'nonverbal' children with autism. Several studies suggested that PECS could represent an effective tool for promoting improvement of several social-communicative skills. Only sparse evidence is instead available on the long-term effectiveness of this treatment system.
Aims: To test the long-term effects of PECS, for which a follow-up study was conducted by assessing social-communicative skills in nonverbal preschool children with autism after 12 months from treatment completion.
Methods & Procedures: Two groups of children (N = 14) were assessed; one group had completed the PECS training and the other conventional language therapy (CLT). At follow-up all children received the same pre- and post-treatment assessment. Outcome measures were the following: Communication and Social domains of Autism Diagnostic Observation Schedule (ADOS); Language and Personal-Social subscales of the Griffiths' Mental Developmental Scales (GMDS); Communication and Social Abilities domains of the Vineland Adaptive Behavior Scales (VABS); and several social-communicative variables coded in an unstructured setting.
Outcomes & Results: The PECS group showed significant improvements compared with the CLT group on ADOS severity scores (Communication, Social and Total), on GMDS Social domain and on VABS Communication and Social domains. PECS-related gains on the VABS Social domain and on specific social-communicative measures coded during free-play, i.e. frequency of joint attention and initiation, and duration of cooperative play, were stable after 1-year follow-up. Cooperative play continued to improve on follow-up with respect to both post-and pre-treatment assessment.
Conclusions & Implications: These findings demonstrated that PECS training can promote long-term enhancement of specific socio-communicative skills in children with autism.
C1 [Lerna, Anna; Esposito, Dalila; Massagli, Angelo] IRCCS Eugenio Medea, Child Psychopathol Unit, Inst Sci, Ostuni, Brindisi, Italy.
[Conson, Massimiliano] Univ Naples 2, Dept Psychol, Neuropsychol Lab, Caserta, Italy.
RP Massagli, A (reprint author), IRCCS Eugenio Medea, Child Psychopathol Unit, Dept Neurorehabil 2, Inst Sci, Ostuni, Brindisi, Italy.
EM angelo.massagli@irccs.os.lnf.it
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Boesch MC, 2013, AUGMENT ALTERN COMM, V29, P197, DOI 10.3109/07434618.2013.818059
BONDY A. S., 1994, PECS PICTURE EXCHANG
Bondy Andrew S., 1998, Seminars in Speech and Language, V19, P373, DOI 10.1055/s-2008-1064055
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Charlop-Christy MH, 2002, J APPL BEHAV ANAL, V35, P213, DOI 10.1901/jaba.2002.35-213
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Greenspan S. I., 1998, CHILD SPECIAL NEEDS
Griffiths R., 1984, GRIFFITHS MENTAL DEV
Hartley SL, 2008, J INTELL DISABIL RES, V52, P819, DOI 10.1111/j.1365-2788.2008.01065.x
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Yoder P, 2006, J CONSULT CLIN PSYCH, V74, P426, DOI 10.1037/0022-006X.74.3.426
Yoder P, 2006, J SPEECH LANG HEAR R, V49, P698, DOI 10.1044/1092-4388(2006/051)
NR 39
TC 0
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 478
EP 485
DI 10.1111/1460-6984.12079
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700006
PM 24655345
ER
PT J
AU Loukusa, S
Makinen, L
Kuusikko-Gauffin, S
Ebeling, H
Moilanen, I
AF Loukusa, Soile
Makinen, Leena
Kuusikko-Gauffin, Sanna
Ebeling, Hanna
Moilanen, Irma
TI Theory of mind and emotion recognition skills in children with specific
language impairment, autism spectrum disorder and typical development:
group differences and connection to knowledge of grammatical morphology,
word-finding abilities and verbal working memory
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE specific language impairment; autism spectrum disorder; theory of mind;
emotion recognition
ID UNDERSTANDING EMOTIONS; ASPERGER-SYNDROME; COMPREHENSION; INDIVIDUALS;
CONTEXT; AGE
AB Background: Social perception skills, such as understanding the mind and emotions of others, affect children's communication abilities in real-life situations. In addition to autism spectrum disorder (ASD), there is increasing knowledge that children with specific language impairment (SLI) also demonstrate difficulties in their social perception abilities.
Aims: To compare the performance of children with SLI, ASD and typical development (TD) in social perception tasks measuring Theory of Mind (ToM) and emotion recognition. In addition, to evaluate the association between social perception tasks and language tests measuring word-finding abilities, knowledge of grammatical morphology and verbal working memory.
Method & Procedures: Children with SLI (n = 18), ASD (n = 14) and TD (n = 25) completed two NEPSY-II subtests measuring social perception abilities: (1) Affect Recognition and (2) ToM (includes Verbal and non-verbal Contextual tasks). In addition, children's word-finding abilities were measured with the TWF-2, grammatical morphology by using the Grammatical Closure subtest of ITPA, and verbal working memory by using subtests of Sentence Repetition or Word List Interference (chosen according the child's age) of the NEPSY-II.
Outcomes & Results: Children with ASD scored significantly lower than children with SLI or TD on the NEPSY-II Affect Recognition subtest. Both SLI and ASD groups scored significantly lower than TD children on Verbal tasks of the ToM subtest of NEPSY-II. However, there were no significant group differences on non-verbal Contextual tasks of the ToM subtest of the NEPSY-II. Verbal tasks of the ToM subtest were correlated with the Grammatical Closure subtest and TWF-2 in children with SLI. In children with ASD correlation between TWF-2 and ToM: Verbal tasks was moderate, almost achieving statistical significance, but no other correlations were found.
Conclusions & Implications: Both SLI and ASD groups showed difficulties in tasks measuring verbal ToM but differences were not found in tasks measuring non-verbal Contextual ToM. The association between Verbal ToM tasks and language tests was stronger in children with SLI than in children with ASD. There is a need for further studies in order to understand interaction between different areas of language and cognitive development.
C1 [Loukusa, Soile; Makinen, Leena] Univ Oulu, Fac Humanities, Child Language Res Ctr, FIN-90014 Oulu, Finland.
[Kuusikko-Gauffin, Sanna; Ebeling, Hanna; Moilanen, Irma] Univ Oulu, Fac Med, Inst Clin Med, Dept Child Psychiat, FIN-90014 Oulu, Finland.
[Kuusikko-Gauffin, Sanna; Ebeling, Hanna; Moilanen, Irma] Univ Hosp Oulu, Oulu, Finland.
RP Loukusa, S (reprint author), Univ Oulu, Fac Humanities, Child Language Res Ctr, POB 1000, FIN-90014 Oulu, Finland.
EM soile.loukusa@oulu.fi
FU Academy of Finland; Alma and K. A. Snellman Foundation, Oulu, Finland
FX The authors are grateful to the children and their parents who
participated in this study. This research was financially supported by
the Academy of Finland and the Alma and K. A. Snellman Foundation, Oulu,
Finland. Declaration of interest: The authors report no conflicts of
interest. The authors alone are responsible for the content and writing
of the paper.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Baron-Cohen S., 2000, UNDERSTANDING OTHER, P3
BARONCOHEN S, 1991, CHILD DEV, V62, P385, DOI 10.1111/j.1467-8624.1991.tb01539.x
Bishop DVM, 2010, BEHAV GENET, V40, P618, DOI 10.1007/s10519-010-9381-x
Castelli F, 2005, AUTISM, V9, P428, DOI 10.1177/1362361305056082
Clegg J, 2005, J CHILD PSYCHOL PSYC, V46, P128, DOI 10.1111/j.1469-7610.2004.00342.x
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World Health Organization, 1993, INT CLASS MENT BEH D
NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1368-2822
EI 1460-6984
J9 INT J LANG COMM DIS
JI Int. J. Lang. Commun. Disord.
PD JUL-AUG
PY 2014
VL 49
IS 4
BP 498
EP 507
DI 10.1111/1460-6984.12091
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AN4ZW
UT WOS:000340599700008
PM 24888967
ER
PT J
AU Yu, TW
Berry-Kravis, E
AF Yu, Timothy W.
Berry-Kravis, Elizabeth
TI Autism and Fragile X Syndrome
SO SEMINARS IN NEUROLOGY
LA English
DT Article
DE fragile X syndrome; autism spectrum disorder; fragile X mental
retardation protein; fragile X mental retardation 1 geneintellectual
disability
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SYNAPTIC
PLASTICITY; MENTAL-RETARDATION; FUNCTIONAL IMPACT; MOUSE MODEL; CGG
REPEAT; OPEN-LABEL; FMR1 GENE
AB Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions. These glimpses on one hand reinforce the idea that synapse development and plasticity are one of the major pathways disrupted in autism, but beyond that are providing fresh molecular support to the idea of mechanistic parallels between idiopathic ASD and specific syndromic neurodevelopmental disorders like fragile X syndrome (FXS). Fragile X syndrome is already recognized as the most common identifiable genetic cause of intellectual disability and ASDs, with many overlapping phenotypic features. Fragile X syndrome is associated with a variety of cognitive, behavioral, physical, and medical problems, which are managed through supportive treatment. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model, and early clinical trials of targeted treatments in humans with FXS. Thus translational strategies in FXS may be poised to serve as models for ASD and other cognitive disorders.
C1 [Yu, Timothy W.] Harvard Univ, Sch Med, Div Genet & Genom, Boston Childrens Hosp, Boston, MA 02115 USA.
[Yu, Timothy W.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA.
RP Yu, TW (reprint author), Harvard Univ, Sch Med, Div Genet & Genom, Boston Childrens Hosp, 300 Longwood Ave, Boston, MA 02115 USA.
EM timothy.yu@childrens.harvard.edu; Elizabeth_m_berry-kravis@rush.edu
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NR 96
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0271-8235
EI 1098-9021
J9 SEMIN NEUROL
JI Semin. Neurol.
PD JUL
PY 2014
VL 34
IS 3
BP 258
EP 265
DI 10.1055/s-0034-1386764
PG 8
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO4AQ
UT WOS:000341279000005
PM 25192504
ER
PT J
AU Stockler-Ipsiroglu, S
van Karnebeek, CDM
AF Stockler-Ipsiroglu, Sylvia
van Karnebeek, Clara D. M.
TI Cerebral Creatine Deficiencies: A Group of Treatable Intellectual
Developmental Disorders
SO SEMINARS IN NEUROLOGY
LA English
DT Article
DE GATM; guanidinoacetate methyltransferase; SLC6A8; magnetic resonance
spectroscopy; treatment; intellectual disability; developmental delay;
autism
ID AMIDINOTRANSFERASE AGAT DEFICIENCY; METHYLTRANSFERASE GAMT DEFICIENCY;
TRANSPORTER DEFICIENCY; INBORN ERROR; BRAIN; METABOLISM; ARGININE;
DEFECT; SLC6A8; SPECTRUM
AB Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders.
C1 [Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Div Biochem Dis, Dept Pediat, BC Childrens Hosp, Vancouver, BC V6H 3V4, Canada.
[Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Treatable Intellectual Disabil Endeavor British C, Vancouver, BC V6H 3V4, Canada.
[Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M.] Univ British Columbia, Child & Family Res Inst, Vancouver, BC V6H 3V4, Canada.
[van Karnebeek, Clara D. M.] Univ British Columbia, Ctr Mol Med & Therapeut, Vancouver, BC V6H 3V4, Canada.
RP Stockler-Ipsiroglu, S (reprint author), Univ British Columbia, Dept Pediat, Child & Family Res Inst, K3-204-4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM sstockler@cw.bc.ca
FU B.C. Children's Hospital Foundation for TIDE-BC
FX This work was supported by funding from the B.C. Children's Hospital
Foundation for TIDE-BC as the "1st Collaborative Area of Innovation."
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NR 41
TC 0
Z9 0
PU THIEME MEDICAL PUBL INC
PI NEW YORK
PA 333 SEVENTH AVE, NEW YORK, NY 10001 USA
SN 0271-8235
EI 1098-9021
J9 SEMIN NEUROL
JI Semin. Neurol.
PD JUL
PY 2014
VL 34
IS 3
BP 350
EP 356
DI 10.1055/s-0034-1386772
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO4AQ
UT WOS:000341279000013
PM 25192512
ER
PT J
AU Hardstaff, S
AF Hardstaff, Sarah
TI "Maybe he's on the toy train": empathising and systemising in an
encounter with David Macaulay's Black and White
SO LITERACY
LA English
DT Article
DE children's literature; autism; fiction; narrative; picture books; reader
response; empathy; perspective-taking
AB This study explores the responses of Abby, a young person with autism, to David Macaulay's 1990 picturebook Black and White. Although both picturebook researchers and autism practitioners focus on the importance of encouraging empathetic responses to fictional characters, I build on Louise Collins' argument that Macaulay's work offers an opportunity to develop a different kind of "moral literacy" (2002, p.31). Different ways of practising and understanding perspective-taking in relation to fiction are considered in light of Abby's responses to Black and White and to fiction more generally. This study, in considering its own weaknesses, also offers a critique of the typical approaches to picturebook research whereby taking the perspective of fictional characters is sometimes seen as indicative of reading competence.
C1 Univ Cambridge, Fac Educ, Cambridge CB2 8PQ, England.
RP Hardstaff, S (reprint author), Univ Cambridge, Fac Educ, Hills Rd, Cambridge CB2 8PQ, England.
EM sarahlayzellhardstaff@gmail.com
CR Arizpe E., 2003, CHILDREN READING PIC
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Keen Suzanne, 2007, EMPATHY NOVEL
Kubrick Stanley, 1980, SHINING
Lewis David, 2001, READING CONT PICTURE
Macaulay D., 1990, BLACK WHITE
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Scott Carole, 2006, PICTUREBOOKS WORK
Shyamalan M. Night, 1999, 6 SENSE
NR 20
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1741-4350
EI 1741-4369
J9 LITERACY
JI Literacy
PD JUL
PY 2014
VL 48
IS 2
BP 80
EP 85
DI 10.1111/lit.12033
PG 6
WC Education & Educational Research; Linguistics; Language & Linguistics
SC Education & Educational Research; Linguistics
GA AN4ZB
UT WOS:000340597500005
ER
PT J
AU Jantzie, LL
Getsy, PM
Firl, DJ
Wilson, CG
Miller, RH
Robinson, S
AF Jantzie, L. L.
Getsy, P. M.
Firl, D. J.
Wilson, C. G.
Miller, R. H.
Robinson, S.
TI Erythropoietin attenuates loss of potassium chloride co-transporters
following prenatal brain injury
SO MOLECULAR AND CELLULAR NEUROSCIENCE
LA English
DT Article
DE Calpain; Erythropoietin; Hypoxia-ischemia; KCC2; Perinatal brain injury
ID HYPOXIC-ISCHEMIC ENCEPHALOPATHY; CL-COTRANSPORTER KCC2; RECOMBINANT
ERYTHROPOIETIN; NEUROTROPHIC FACTOR; DOWN-REGULATION; NEUROPATHIC PAIN;
PRETERM INFANTS; CALPAIN; EXPRESSION; PHARMACOKINETICS
AB Therapeutic agents that restore the inhibitory actions of gamma-amino butyric acid (GABA) by modulating intracellular chloride concentrations will provide novel avenues to treat stroke, chronic pain, epilepsy, autism, and neurodegenerative and cognitive disorders. During development, upregulation of the potassium-chloride co-transporter KCC2, and the resultant switch from excitatory to inhibitory responses to GABA guide the formation of essential inhibitory circuits. Importantly, maturation of inhibitory mechanisms is also central to the development of excitatory circuits and proper balance between excitatory and inhibitory networks in the developing brain. Loss of KCC2 expression occurs in postmortem samples from human preterm infant brains with white matter lesions. Here we show that late gestation brain injury in a rat model of extreme prematurity impairs the developmental upregulation of potassium chloride co-transporters during a critical postnatal period of circuit maturation in CA3 hippocampus by inducing a sustained loss of oligomeric KCC2 via a calpain-dependent mechanism. Further, administration of erythropoietin (EPO) in a clinically relevant postnatal dosing regimen following the prenatal injury protects the developing brain by reducing calpain activity, restoring oligomeric KCC2 expression and attenuating KCC2 fragmentation, thus providing the first report of a safe therapy to address deficits in KCC2 expression. Together, these data indicate it is possible to reverse abnormalities in KCC2 expression during the postnatal period, and potentially reverse deficits in inhibitory circuit formation central to cognitive impairment and epileptogenesis. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Jantzie, L. L.; Firl, D. J.; Robinson, S.] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Harvard Med Sch, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Boston Childrens Hosp, Dept Neurosurg, Boston, MA 02115 USA.
[Jantzie, L. L.; Firl, D. J.; Robinson, S.] Harvard Med Sch, Boston, MA 02115 USA.
[Getsy, P. M.; Wilson, C. G.] Case Western Reserve Univ, Sch Med, Dept Pediat, Cleveland, OH 44106 USA.
[Miller, R. H.] Case Western Reserve Univ, Sch Med, Dept Neurosci, Cleveland, OH 44106 USA.
RP Robinson, S (reprint author), Boston Childrens Hosp, Dept Neurosurg, Hunnewell 2,300 Longwood Ave, Boston, MA 02115 USA.
EM Shenandoah.Robinson@childrens.harvard.edu
FU National Institute of Neurological Diseases and Stroke at the National
Institutes of Health [RO1 NS060765]
FX This work was supported by the National Institute of Neurological
Diseases and Stroke at the National Institutes of Health (RO1 NS060765
to S.R.). We thank Cecil Yeung, James Messegee, Elizabeth Schick, Mark
Eden, and Qing Li for their exceptional technical assistance. We are
very appreciative of the Boston Children's Hospital Intellectual and
Developmental Disabilities Research Center (BCH IDDRC) Cellular Imaging
Core (P30 HD18655).
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NR 64
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1044-7431
EI 1095-9327
J9 MOL CELL NEUROSCI
JI Mol. Cell. Neurosci.
PD JUL
PY 2014
VL 61
BP 152
EP 162
DI 10.1016/j.mcn.2014.06.009
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AN6FN
UT WOS:000340690400015
PM 24983520
ER
PT J
AU Warlaumont, AS
Richards, JA
Gilkerson, J
Oller, DK
AF Warlaumont, Anne S.
Richards, Jeffrey A.
Gilkerson, Jill
Oller, D. Kimbrough
TI A Social Feedback Loop for Speech Development and Its Reduction in
Autism
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE social interaction; speech development; autism; socioeconomic status;
rewards
ID AUTOMATED VOCAL ANALYSIS; JOINT ATTENTION; SPECTRUM DISORDER; BRAIN
OVERGROWTH; CHILDREN; LANGUAGE; COMMUNICATION; INTERVENTION; ABILITIES;
INFANTS
AB We analyzed the microstructure of child-adult interaction during naturalistic, daylong, automatically labeled audio recordings (13,836 hr total) of children (8- to 48-month-olds) with and without autism. We found that an adult was more likely to respond when the child's vocalization was speech related rather than not speech related. In turn, a child's vocalization was more likely to be speech related if the child's previous speech-related vocalization had received an immediate adult response rather than no response. Taken together, these results are consistent with the idea that there is a social feedback loop between child and caregiver that promotes speech development. Although this feedback loop applies in both typical development and autism, children with autism produced proportionally fewer speech-related vocalizations, and the responses they received were less contingent on whether their vocalizations were speech related. We argue that such differences will diminish the strength of the social feedback loop and have cascading effects on speech development over time. Differences related to socioeconomic status are also reported.
C1 [Warlaumont, Anne S.] Univ Calif Merced, Merced, CA 95343 USA.
[Richards, Jeffrey A.; Gilkerson, Jill] LENA Res Fdn, Boulder, CO USA.
[Gilkerson, Jill] Univ Colorado, Dept Speech Language & Hearing Sci, Boulder, CO 80309 USA.
[Oller, D. Kimbrough] Univ Memphis, Sch Commun Sci & Disorders, Memphis, TN 38152 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Klosterneuburg, Austria.
RP Warlaumont, AS (reprint author), Univ Calif Merced, Sch Social Sci Humanities & Arts, 5200 North Lake Rd, Merced, CA 95343 USA.
EM awarlaumont2@ucmerced.edu
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NR 41
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0956-7976
EI 1467-9280
J9 PSYCHOL SCI
JI Psychol. Sci.
PD JUL
PY 2014
VL 25
IS 7
BP 1314
EP 1324
DI 10.1177/0956797614531023
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AM8NA
UT WOS:000340131300003
PM 24840717
ER
PT J
AU Wagner, DV
Borduin, CM
Kanne, SM
Mazurek, MO
Farmer, JE
Brown, RMA
AF Wagner, David V.
Borduin, Charles M.
Kanne, Stephen M.
Mazurek, Micah O.
Farmer, Janet E.
Brown, Rachel M. A.
TI MULTISYSTEMIC THERAPY FOR DISRUPTIVE BEHAVIOR PROBLEMS IN YOUTHS WITH
AUTISM SPECTRUM DISORDERS: A PROGRESS REPORT
SO JOURNAL OF MARITAL AND FAMILY THERAPY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; INTELLECTUAL DISABILITY; FAMILY
THERAPISTS; COPING STRATEGIES; PARENTING STRESS; PRESCHOOL-CHILDREN;
SOCIAL SUPPORT; YOUNG-ADULTS; ADOLESCENTS; ADJUSTMENT
AB Youths with autism spectrum disorders (ASD) often engage in serious disruptive behaviors that interfere with their ability to successfully manage day-to-day responsibilities and contribute to relationship problems with caregivers, peers, and teachers. Effective treatments are needed to address the factors linked with disruptive behavior problems in this population of youths. Multisystemic therapy (MST) is a comprehensive family-and community-based treatment approach that has been effective with other difficult-to-treat populations of youths and holds promise for youths with ASD. In this article, we review the broad range of factors associated with disruptive behaviors among youths with ASD and discuss how MST interventions can be adapted to address those factors. We also present a framework for our adaptation of the MST model for youths with ASD. This framework includes a recently completed pilot study as well as an ongoing efficacy trial that together have served to identify key interventions for our adaptation of the MST model.
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RP Borduin, CM (reprint author), Univ Missouri, 108A McAlester Hall,S 6th St, Columbia, MO 65211 USA.
EM borduinc@missouri.edu
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NR 73
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0194-472X
EI 1752-0606
J9 J MARITAL FAM THER
JI J. Marital Fam. Ther.
PD JUL
PY 2014
VL 40
IS 3
BP 319
EP 331
DI 10.1111/jmft.12012
PG 13
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AM6HF
UT WOS:000339964100005
PM 24749815
ER
PT J
AU Bourne, Y
Marchot, P
AF Bourne, Yves
Marchot, Pascale
TI The Neuroligins and Their Ligands: from Structure to Function at the
Synapse
SO JOURNAL OF MOLECULAR NEUROSCIENCE
LA English
DT Article; Proceedings Paper
CT 14th International Symposium on Cholinergic Mechanisms (ISCM)
CY MAY, 2013
CL Hangzhou, PEOPLES R CHINA
DE Acetylcholinesterase; Adhesion; alpha/beta-hydrolase; Autism; Complex;
Ectodomain; Enzyme; Model; Neurexin; Neuroligin; Partnership; Structure;
Synapse
ID CELL-ADHESION MOLECULES; CRYSTAL-STRUCTURE; BETA-NEUREXINS;
EXTRACELLULAR DOMAIN; INHIBITORY SYNAPSES; ALPHA-NEUREXINS; NMDA
RECEPTORS; PROTEIN; BINDING; ACETYLCHOLINESTERASE
AB The neuroligins are cell adhesion proteins whose extracellular domain belongs to the alpha/beta-hydrolase fold family of proteins, mainly containing enzymes and exemplified by acetylcholinesterase. The ectodomain of postsynaptic neuroligins interacts through a calcium ion with the ectodomain of presynaptic neurexins to form flexible trans-synaptic associations characterized by selectivity for neuroligin or neurexin subtypes. This heterophilic interaction, essential for synaptic differentiation, maturation, and maintenance, is regulated by gene selection, alternative mRNA splicing, and posttranslational modifications. Mutations leading to deficiencies in the expression, folding, maturation, and binding properties of either partner are associated with autism spectrum disorders. The currently available structural and functional data illustrate how these two families of cell adhesion molecules bridge the synaptic cleft to participate in synapse plasticity and support its dynamic nature. Neuroligin partners distinct from the neurexins, and which may undergo either trans or cis interaction, have also been described, and tridimensional structures of some of them are available. Our study emphasizes the partnership versatility of the neuroligin ectodomain associated with molecular flexibility and alternative binding sites, proposes homology models of the structurally non-characterized neuroligin partners, and exemplifies the large structural variability at the surface of the alpha/beta-hydrolase fold subunit. This study also provides new insights into possible surface binding sites associated with non-catalytic properties of the acetylcholinesterase subunit.
C1 [Bourne, Yves; Marchot, Pascale] Aix Marseille Univ, CNRS, F-13288 Marseille 09, France.
RP Bourne, Y (reprint author), Aix Marseille Univ, CNRS, Campus Luminy Case 932, F-13288 Marseille 09, France.
EM yves.bourne@afmb.univ-mrs.fr; pascale.marchot@univ-amu.fr
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NR 75
TC 1
Z9 1
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0895-8696
EI 1559-1166
J9 J MOL NEUROSCI
JI J. Mol. Neurosci.
PD JUL
PY 2014
VL 53
IS 3
BP 387
EP 396
DI 10.1007/s12031-014-0234-6
PG 10
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AM6ES
UT WOS:000339956700015
PM 24497299
ER
PT J
AU Nakai, T
Nagai, T
Wang, R
Yamada, S
Kuroda, K
Kaibuchi, K
Yamada, K
AF Nakai, Tsuyoshi
Nagai, Taku
Wang, Rui
Yamada, Shinnosuke
Kuroda, Keisuke
Kaibuchi, Kozo
Yamada, Kiyofumi
TI Alterations of GABAergic and dopaminergic systems in mutant mice with
disruption of exons 2 and 3 of the Disc1 gene
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Disc1; Dopamine release; Methamphetamine; Parvalbumin-positive
interneuron; Schizophrenia
ID CONDITIONED PLACE PREFERENCE; VENTRAL TEGMENTAL AREA; IN-VIVO
MICRODIALYSIS; PREFRONTAL CORTEX; WORKING-MEMORY; ANIMAL-MODELS;
HIPPOCAMPAL INTERNEURONS; BEHAVIORAL DEFICITS; NEUROTROPHIC FACTOR;
INHIBITORY NEURONS
AB Disrupted-in-schizophrenia-1 (DISC1) has been widely associated with several psychiatric disorders, including schizophrenia, mood disorders and autism. We previously reported that a deficiency of DISCI may induce low anxiety and/or high impulsivity in mice with disruption of exons 2 and 3 of the Disc) gene (Disc1(Delta 2-3/Delta 2-3)). It remains unclear, however, if deficiency of DISCI leads to specific alterations in distinct neuronal systems. In the present study, to understand the role of DISCI in gamma-aminobutyric acid (GABA) interneurons and mesocorticolimbic dopaminergic (DAergic) neurons, we investigated the number of parvalbumin (PV)-positive interneurons, methamphetamine (METH)-induced DA release and the expression levels of GABA(A), DA transporter (DAT) and DA receptors in wild-type (Disc1(+/+)) and Disc1(Delta 2-3/Delta 2-3) mice. Female Disc1(Delta 2-3/Delta 2-3) mice showed a significant reduction of PV-positive interneurons in the hippocampus, while no apparent changes were observed in mRNA expression levels of GABA(A) receptor subunits. METH-induced DA release was significantly potentiated in the nucleus accumbens (NAc) of female Disc1(Delta 2-3/Delta 2-3) mice, although there were no significant differences in the expression levels of DAT. Furthermore, the expression levels of DA receptor mRNA were upregulated in the NAc of female Disc1(Delta 2-3/Delta 2-3) mice. Male Disc1(Delta 2-3/Delta 2-3) mice showed no apparent differences in all experiments. DISCI may play a critical role in gender-specific developmental alteration in GABAergic inhibitory interneurons and DAergic neurons. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Nakai, Tsuyoshi; Nagai, Taku; Wang, Rui; Yamada, Shinnosuke; Yamada, Kiyofumi] Nagoya Univ, Grad Sch Med, Dept Neuropsychopharmacol, Showa Ku, Nagoya, Aichi 4668560, Japan.
[Nakai, Tsuyoshi; Nagai, Taku; Wang, Rui; Yamada, Shinnosuke; Yamada, Kiyofumi] Nagoya Univ, Grad Sch Med, Hosp Pharm, Showa Ku, Nagoya, Aichi 4668560, Japan.
[Kuroda, Keisuke; Kaibuchi, Kozo] Nagoya Univ, Grad Sch Med, Dept Cell Pharmacol, Showa Ku, Nagoya, Aichi 4668560, Japan.
RP Yamada, K (reprint author), Nagoya Univ, Grad Sch Med, Dept Neuropsychopharmacol, Showa Ku, 65 Tsuruma Cho, Nagoya, Aichi 4668560, Japan.
EM kyamada@med.nagoya-u.ac.jp
RI Kuroda, Keisuke/K-5255-2013
OI Kuroda, Keisuke/0000-0002-6715-5125
FU JSPS KAKENHI from JST [243493]; JSPS; SRPBS from MEXT, CREST; MEXT
[24111518, 25116515, 25460093, 26670121, 26293053]; MHLW
[H25-Iyaku-Ippan-020]; Intramural Research Grant for Neurological and
Psychiatric Disorders of NCNP [24-12]; SRF Grant for Biomedical Research
FX We thank the Division for Research of Laboratory Animals, Center for
Research of Laboratory Animals and Medical Research Engineering
(Technical Staff, Yasutaka Ohya and Kumiko Yano) for animal care and
use. This work was supported by the following funding sources: JSPS
KAKENHI (243493) from JST, Exploratory Research from JSPS, "Integrated
Research on Neuropsychiatric Disorders" and "Bioinformatics for Brain
Sciences" carried out under the SRPBS from MEXT, CREST, Grants-in-Aid
for Scientific Research (24111518, 25116515, 25460093, 26670121,
26293053) from the MEXT, Health and Labour Sciences Research Grant
(H25-Iyaku-Ippan-020) from MHLW, Intramural Research Grant (24-12) for
Neurological and Psychiatric Disorders of NCNP and SRF Grant for
Biomedical Research.
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NR 101
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 74
BP 74
EP 83
DI 10.1016/j.neuint.2014.06.009
PG 10
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AN0YJ
UT WOS:000340309600010
PM 24973713
ER
PT J
AU Jenkins, TG
Aston, KI
Pflueger, C
Cairns, BR
Carrell, DT
AF Jenkins, Timothy G.
Aston, Kenneth I.
Pflueger, Christian
Cairns, Bradley R.
Carrell, Douglas T.
TI Age-Associated Sperm DNA Methylation Alterations: Possible Implications
in Offspring Disease Susceptibility
SO PLOS GENETICS
LA English
DT Article
ID PARENTAL AGE; PATERNAL AGE; HUNTINGTONS-DISEASE; CHILDHOOD LEUKEMIA;
BIPOLAR DISORDER; TELOMERE LENGTH; TNXB LOCUS; GENE; SCHIZOPHRENIA; SEX
AB Recent evidence demonstrates a role for paternal aging on offspring disease susceptibility. It is well established that various neuropsychiatric disorders (schizophrenia, autism, etc.), trinucleotide expansion associated diseases (myotonic dystrophy, Huntington's, etc.) and even some forms of cancer have increased incidence in the offspring of older fathers. Despite strong epidemiological evidence that these alterations are more common in offspring sired by older fathers, in most cases the mechanisms that drive these processes are unclear. However, it is commonly believed that epigenetics, and specifically DNA methylation alterations, likely play a role. In this study we have investigated the impact of aging on DNA methylation in mature human sperm. Using a methylation array approach we evaluated changes to sperm DNA methylation patterns in 17 fertile donors by comparing the sperm methylome of 2 samples collected from each individual 9-19 years apart. With this design we have identified 139 regions that are significantly and consistently hypomethylated with age and 8 regions that are significantly hypermethylated with age. A representative subset of these alterations have been confirmed in an independent cohort. A total of 117 genes are associated with these regions of methylation alterations (promoter or gene body). Intriguingly, a portion of the age-related changes in sperm DNA methylation are located at genes previously associated with schizophrenia and bipolar disorder. While our data does not establish a causative relationship, it does raise the possibility that the age-associated methylation of the candidate genes that we observe in sperm might contribute to the increased incidence of neuropsychiatric and other disorders in the offspring of older males. However, further study is required to determine whether, and to what extent, a causative relationship exists.
C1 [Jenkins, Timothy G.; Aston, Kenneth I.; Carrell, Douglas T.] Univ Utah, Sch Med, Dept Surg, Androl & IVF Labs, Salt Lake City, UT 84112 USA.
[Pflueger, Christian; Cairns, Bradley R.] Univ Utah, Sch Med, Huntsman Canc Inst, Dept Oncol Sci, Salt Lake City, UT USA.
[Cairns, Bradley R.] Howard Hughes Med Inst, Chevy Chase, MD USA.
[Carrell, Douglas T.] Univ Utah, Sch Med, Dept Genet, Salt Lake City, UT USA.
[Carrell, Douglas T.] Univ Utah, Sch Med, Dept Obstet & Gynecol, Salt Lake City, UT 84132 USA.
RP Jenkins, TG (reprint author), Univ Utah, Sch Med, Dept Surg, Androl & IVF Labs, Salt Lake City, UT 84112 USA.
EM Brad.Cairns@hci.utah.edu; douglas.carrell@hsc.utah.edu
FU University of Utah Center on Aging
FX An internal University of Utah small grant from the "University of Utah
Center on Aging" was used for this study. Additionally, clinical funds
were used for this study. No outside grant agency funds were applied.
The funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 37
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD JUL
PY 2014
VL 10
IS 7
AR e1004458
DI 10.1371/journal.pgen.1004458
PG 13
WC Genetics & Heredity
SC Genetics & Heredity
GA AM5ME
UT WOS:000339902600016
PM 25010591
ER
PT J
AU Tulgren, ED
Turgeon, SM
Opperman, KJ
Grill, B
AF Tulgren, Erik D.
Turgeon, Shane M.
Opperman, Karla J.
Grill, Brock
TI The Nesprin Family Member ANC-1 Regulates Synapse Formation and Axon
Termination by Functioning in a Pathway with RPM-1 and beta-Catenin
SO PLOS GENETICS
LA English
DT Article
ID UBIQUITIN LIGASE RPM-1; MAP KINASE PATHWAY; C-ELEGANS RPM-1;
CAENORHABDITIS-ELEGANS; NUCLEAR-ENVELOPE; WNT PATHWAY;
NEUROMUSCULAR-JUNCTION; GLUTAMATE RECEPTORS; NEURONAL MIGRATION; NEURITE
OUTGROWTH
AB Mutations in Nesprin-1 and 2 (also called Syne-1 and 2) are associated with numerous diseases including autism, cerebellar ataxia, cancer, and Emery-Dreifuss muscular dystrophy. Nesprin-1 and 2 have conserved orthologs in flies and worms called MSP-300 and abnormal nuclear Anchorage 1 (ANC-1), respectively. The Nesprin protein family mediates nuclear and organelle anchorage and positioning. In the nervous system, the only known function of Nesprin-1 and 2 is in regulation of neurogenesis and neural migration. It remains unclear if Nesprin-1 and 2 regulate other functions in neurons. Using a proteomic approach in C. elegans, we have found that ANC-1 binds to the Regulator of Presynaptic Morphology 1 (RPM-1). RPM-1 is part of a conserved family of signaling molecules called Pam/Highwire/RPM-1 (PHR) proteins that are important regulators of neuronal development. We have found that ANC-1, like RPM-1, regulates axon termination and synapse formation. Our genetic analysis indicates that ANC-1 functions via the beta-catenin BAR-1, and the ANC-1/BAR-1 pathway functions cell autonomously, downstream of RPM-1 to regulate neuronal development. Further, ANC-1 binding to the nucleus is required for its function in axon termination and synapse formation. We identify variable roles for four different Wnts (LIN-44, EGL-20, CWN-1 and CWN-2) that function through BAR-1 to regulate axon termination. Our study highlights an emerging, broad role for ANC-1 in neuronal development, and unveils a new and unexpected mechanism by which RPM-1 functions.
C1 [Tulgren, Erik D.] Univ Minnesota, Dept Pharmacol, Minneapolis, MN 55455 USA.
[Turgeon, Shane M.; Opperman, Karla J.; Grill, Brock] Scripps Res Inst Florida, Dept Neurosci, Jupiter, FL USA.
RP Tulgren, ED (reprint author), Univ Minnesota, Dept Pharmacol, 3-249 Millard Hall, Minneapolis, MN 55455 USA.
EM bgrill@scripps.edu
FU NIH [R01 NS072129]; NSF [IOS-1121095]
FX BG was supported by the NIH (R01 NS072129) and the NSF (IOS-1121095).
The funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 90
TC 6
Z9 6
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1553-7390
EI 1553-7404
J9 PLOS GENET
JI PLoS Genet.
PD JUL
PY 2014
VL 10
IS 7
AR e1004481
DI 10.1371/journal.pgen.1004481
PG 16
WC Genetics & Heredity
SC Genetics & Heredity
GA AM5ME
UT WOS:000339902600033
PM 25010424
ER
PT J
AU St Peter, CC
Brunson, LY
Cook, JE
Subramaniam, S
Larson, NA
Clingan, M
Poe, SG
AF St Peter, Claire C.
Brunson, Lashanna Y.
Cook, James E.
Subramaniam, Shrinidhi
Larson, Nicholas A.
Clingan, Mark
Poe, Susannah G.
TI ADHERENCE TO DISCRETE-TRIAL INSTRUCTION PROCEDURES BY RURAL PARENTS OF
CHILDREN WITH AUTISM
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID TEACHING SKILLS; DRUG-THERAPY; STAFF; IMPLEMENTATION; INTERVENTION;
ASSESSMENTS; ACQUISITION; PERFORMANCE; PREFERENCE; BEHAVIOR
AB Parents of children with autism spectrum disorders may not attempt treatment, even when effective treatment options are available. Little is known about how to improve frequency of attempts to implement treatment ('treatment adherence'). We provided 32 rural parents of young children with autism spectrum disorders with either written or video training materials about how to implement discrete-trial instruction and compared parental adherence between the written (control) and video (experimental) groups. Parents who received video instructions adhered to the training procedures to a significantly greater extent than did parents who received written instructions, suggesting that instruction format is a predictor of training success. Copyright (C) 2014 John Wiley & Sons, Ltd.
C1 [St Peter, Claire C.; Cook, James E.; Subramaniam, Shrinidhi] W Virginia Univ, Dept Psychol, Morgantown, WV 26506 USA.
[Brunson, Lashanna Y.; Larson, Nicholas A.; Clingan, Mark; Poe, Susannah G.] W Virginia Univ, Ctr Excellence Disabil, Morgantown, WV 26505 USA.
RP St Peter, CC (reprint author), W Virginia Univ, Dept Psychol, POB 6040, Morgantown, WV 26506 USA.
EM Claire.StPeter@mail.wvu.edu
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NR 36
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD JUL
PY 2014
VL 29
IS 3
BP 200
EP 212
DI 10.1002/bin.1386
PG 13
WC Psychology, Clinical
SC Psychology
GA AM6EG
UT WOS:000339955100003
ER
PT J
AU Guercio, JM
Murray, WJ
AF Guercio, John M.
Murray, William J.
TI LICENSURE FOR BEHAVIOR ANALYSTS: THE PATH TO RESPONSIBLE AND COOPERATIVE
ACTION
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID CHILDREN; AUTISM; DISORDER
AB The increase in the prevalence of autism spectrum disorders in the last decade has contributed to growth in the field of applied behavior analysis (ABA). This growth has been spurred by consumer demand for access to this evidence-based treatment for those with an autism spectrum disorder. Presently, there are at least 34 states that have laws or regulations in place that mandate insurance coverage for autism spectrum disorders. There are also 14 states that have passed licensure or a similar regulatory mechanism for identifying competent providers of ABA. The following paper documents the process of insuring consumer advocacy and protection in the states of Missouri and Wisconsin through the passage of legislation that established licensure for practitioners of ABA. The evolution of this process in both of these states will be detailed as well as a number of lessons learned that should prove to be helpful as additional states move toward licensure for practitioners of ABA. Copyright (C) 2014 John Wiley & Sons, Ltd.
C1 [Guercio, John M.] Missouri Assoc Behav Anal, St Louis, MO USA.
[Murray, William J.] Wisconsin Assoc Behav Anal, Madison, WI USA.
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EM jguercio@gtec.com
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Sallows GO, 2005, AM J MENT RETARD, V110, P417, DOI 10.1352/0895-8017(2005)110[417:IBTFCW]2.0.CO;2
Shook G. L., 2009, BEHAV ANAL CERTIFICA, P1
Smith T, 2000, AM J MENT RETARD, V105, P269, DOI 10.1352/0895-8017(2000)105<0269:RTOIEI>2.0.CO;2
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NR 18
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD JUL
PY 2014
VL 29
IS 3
BP 225
EP 240
DI 10.1002/bin.1388
PG 16
WC Psychology, Clinical
SC Psychology
GA AM6EG
UT WOS:000339955100005
ER
PT J
AU Wetie, AGN
Wormwood, K
Thome, J
Dudley, E
Taurines, R
Gerlach, M
Woods, AG
Darie, CC
AF Wetie, Armand G. Ngounou
Wormwood, Kelly
Thome, Johannes
Dudley, Edward
Taurines, Regina
Gerlach, Manfred
Woods, Alisa G.
Darie, Costel C.
TI A pilot proteomic study of protein markers in autism spectrum disorder
SO ELECTROPHORESIS
LA English
DT Article
DE Apolipoprotein; ASD; Autism; Biomarkers; Cholesterol; Oxidative stress
ID APOLIPOPROTEIN-A-IV; INTENSIVE BEHAVIORAL INTERVENTION; EXPANDED FMR1
ALLELES; LEMLI-OPITZ-SYNDROME; INTRON 1 METHYLATION; DE-NOVO MUTATIONS;
MASS-SPECTROMETRY; CEREBROSPINAL-FLUID; MENTAL-RETARDATION; FEMALE
CARRIERS
AB Autism spectrum disorder (ASD) diagnosis is increasing, with 1/88 children believed to be affected by the disorder, with a most recent survey suggesting numbers as high as 1/50. Treatment and understanding of ASD causes is a pressing health concern. ASD protein biomarkers may provide clues about ASD cause. Protein biomarkers for ASDs could be used for ASD diagnosis, subtyping, treatment monitoring, and identifying therapeutic targets. Here, we analyzed the sera from seven children with ASD and seven matched controls using Tricine gel electrophoresis (Tricine-PAGE) and LC-MS/MS. Overall, we found increased levels of apolipoproteins ApoA1 and ApoA4, involved in cholesterol metabolism and of serum paraoxanase/arylesterase 1, involved in preventing oxidative damage, in the sera of children with ASD, compared with their matched controls. All three proteins are predicted to interact with each other and are parts of high-density lipoproteins. Further studies are needed to validate these findings in larger subject numbers.
C1 [Wetie, Armand G. Ngounou; Wormwood, Kelly; Woods, Alisa G.; Darie, Costel C.] Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, Potsdam, NY 13699 USA.
[Thome, Johannes] Univ Rostock, Dept Psychiat, D-18055 Rostock, Germany.
[Thome, Johannes; Dudley, Edward] Swansea Univ, Coll Med, Swansea, W Glam, Wales.
[Taurines, Regina; Gerlach, Manfred] Univ Wurzburg, Dept Child & Adolescent Psychiat, Wurzburg, Germany.
RP Darie, CC (reprint author), Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, 8 Clarkson Ave, Potsdam, NY 13699 USA.
EM cdarie@clarkson.edu
FU U.S./Army Research Office (DURIP) [W911NF-11-1-0304]; David A. Walsh '67
Fellowship
FX We thank Mr. Tobias Ternent (PRIDE Team) for support in submission of
the mass spectrometry data to the ProteomeX-change Consortium via the
PRIDE repository. This work was supported partially by the U.S./Army
Research Office (DURIP grant #W911NF-11-1-0304 to C.C.D.), private
donations, the Alexander von Humboldt Foundation (A.G.W.) and the
generosity of SciFund Challenge-3 donors. KLW and CCD were supported
during the Summer 2013 by the David A. Walsh '67 Fellowship.
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NR 70
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0173-0835
EI 1522-2683
J9 ELECTROPHORESIS
JI Electrophoresis
PD JUL
PY 2014
VL 35
IS 14
BP 2046
EP 2054
DI 10.1002/elps.201300370
PG 9
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AM2EG
UT WOS:000339661300016
ER
PT J
AU Fujiwara, T
Kawachi, I
AF Fujiwara, Takeo
Kawachi, Ichiro
TI Are Maternal Social Networks and Perceptions of Trust Associated with
Suspected Autism Spectrum Disorder in Offspring? A Population-Based
Study in Japan
SO PLOS ONE
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; QUALITY-OF-LIFE; ZINC-DEFICIENCY;
PARENTAL AGE; CHILDREN; RISK; HEALTH; COPPER; LEVEL
AB Objective: To investigate the associations of maternal social networks and perceptions of trust with the prevalence of suspected autism spectrum disorders in 18-month-old offspring in Japan.
Methods: Questionnaires included measurements of maternal social networks (number of relatives or friends they could call upon for assistance), maternal perceptions of trust, mutual assistance (i.e. individual measures of "cognitive social capital"), and social participation (i.e. individual measures of "structural social capital") as well as the Modified Checklist for Autism in Toddlers to detect suspected autism spectrum disorder (ASD). These tools were mailed to all families with 18-month-old toddlers in Chiba, a city near Tokyo (N = 6061; response rate: 64%). The association between social capital or social network indicators and suspected ASD were analyzed, adjusted for covariates by logistic regression analysis.
Results: Low maternal social trust was found to be significantly positively associated with suspected ASD in toddlers compared with high maternal social trust (adjusted odds ratio [OR]: 1.82, 95% confidence interval [CI]: 1.38 to 2.40); mutual aid was also significantly positively related (low vs. high: OR, 1.82, 95% CI: 1.38 to 2.40). However, maternal community participation showed U-shape association with suspected ASD of offspring. Maternal social network showed consistent inverse associations with suspected ASD of offspring, regardless of the type of social connection (e. g., relatives, neighbors, or friends living outside of their neighborhood).
Conclusions: Mothers' cognitive social capital and social networks, but not structural social capital, might be associated with suspected ASD in offspring.
C1 [Fujiwara, Takeo] Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
[Kawachi, Ichiro] Harvard Univ, Sch Publ Hlth, Dept Soc & Behav Sci, Boston, MA 02115 USA.
RP Fujiwara, T (reprint author), Natl Res Inst Child Hlth & Dev, Dept Social Med, Setagaya Ku, Tokyo, Japan.
EM fujiwara-tk@ncchd.go.jp
FU Ministry of Education, Culture, Sports, Science and Technology KAKENHI
[21119003]
FX This study was supported by grants from a Grant-in-aid for Scientific
Research on Innovative Areas, Ministry of Education, Culture, Sports,
Science and Technology KAKENHI (21119003). The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 39
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JUL 1
PY 2014
VL 9
IS 7
AR e101359
DI 10.1371/journal.pone.0101359
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AM1UX
UT WOS:000339635000096
PM 24983630
ER
PT J
AU Cheng, H
Chang, CC
Chang, YC
Lee, WK
Tzang, RF
AF Cheng, Helen
Chang, Cheng-Chen
Chang, Yue-Cune
Lee, Wen-Kuei
Tzang, Ruu-Fen
TI A Pilot Study: Association between Minor Physical Anomalies in Childhood
and Future Mental Problems
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Minor physical anomalies; Psychiatric symptom
ID NORMAL-CHILDREN; BEHAVIOR; SCHIZOPHRENIA; FAMILIES; AUTISM
AB Objective This study aims to investigate association between early recognizable minor physical abnormality (MPA) during childhood is associated with mental health problems in young adults.
Methods In 1984, 169 preschool children in central Taiwan underwent a detailed physical examination for subtle abnormalities (MPA). Fourteen years later, the Brief Symptom Rating Scale (BSRS) and Chinese Health Questionnaire (CHQ) were used to measure specific psychiatric symptoms.
Results There is an association between MPA during childhood and adult characterized with interpersonal, sensitivity, anxiety, depression and paranoid mental health symptoms.
Conclusion The signs of childhood MPA can be easily identified and should be regarded as risk factors when predicting mental disorder. Mental health professionals should consider MPAs as important signs for possible development of emotional problems.
C1 [Cheng, Helen; Chang, Cheng-Chen] Changhua Christian Hosp, Dept Psychiat, Changhua, Taiwan.
[Chang, Cheng-Chen] Chung Shan Med Univ, Inst Med, Taichung, Taiwan.
[Chang, Yue-Cune] Tamkang Univ, Dept Math, Taipei, Taiwan.
[Lee, Wen-Kuei] Triserv Gen Hosp, Beitou Branch, Dept Psychiat, Taipei, Taiwan.
[Tzang, Ruu-Fen] Mackay Mem Hosp, Dept Psychiat, Taipei 104, Taiwan.
[Tzang, Ruu-Fen] Natl Taipei Univ Nursing & Hlth Sci, Dept Hlth Care Management, Taipei, Taiwan.
RP Tzang, RF (reprint author), Mackay Mem Hosp, Dept Psychiat, 92,Sec 2,Chung Shan N Rd, Taipei 104, Taiwan.
EM rf.tzang@msa.hinet.net
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NR 22
TC 0
Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 228
EP 231
DI 10.4306/pi.2014.11.3.228
PG 4
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000003
PM 25110493
ER
PT J
AU Say, GN
Sahin, B
Aslan, K
Akbas, S
Incesu, L
Ceyhan, M
AF Say, Gokce Nur
Sahin, Bunyamin
Aslan, Kerim
Akbas, Seher
Incesu, Lutfi
Ceyhan, Meltem
TI Increased Laterality of the Thalamus in Children and Adolescents with
Asperger's Disorder: An MRI and Proton Spectroscopy Study
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Asperger; Autism; Thalamus; Laterality; Language; Children
ID AUTISM SPECTRUM DISORDERS; BRAIN SIZE; VOLUME; IMAGES
AB Objective Thalamic abnormalities have been reported in people with pervasive developmental disorders (PDD) including Asperger's Disorder (ASP). The aim of the present study was to compare the volume and volume fraction of the thalamus and the metabolite concentrations in children and adolescents with ASP using the magnetic resonance imaging and proton magnetic resonance spectroscopy. Additionally, the relationships between thalamic abnormalities and clinical features were examined.
Methods Volume and volume fractional and metabolic measurements of bilateral thalamus were collected from 15 boys with ASP with a total IQ over 70 (age range 7-18 years, mean age 11.6 +/- 3.79 years), and 15 healthy controls matching age, sex and IQ. The thalamic volumes, hemisphere volumes and total brain volumes (TBV) were estimated using the stereological methods on magnetic resonance images. Chemical metabolites of thalamus were evaluated by H-1 spectroscopy.
Results No differences in thalamic volumes, volume fractions and metabolites were observed between the groups. There were significant correlation between thalamic volume and total brain volume in both groups. The ASP group showed a significant left-minus-right thalamus difference as well as a significantly greater laterality index. In addition, a significant correlation between the laterality index and Autism Behavior Checklist language scores was observed.
Conclusion Findings from this investigation point to a significant increase in laterality of the thalamus and a relationship with language problems in individuals with ASP. Our findings suggest that thalamic abnormalities may be related to mild language problems observed in ASP.
C1 [Say, Gokce Nur; Akbas, Seher] Ondokuz Mayis Univ, Fac Med, Dept Child & Adolescent Psychiat, TR-55139 Kurupelit, Samsun, Turkey.
[Sahin, Bunyamin] Ondokuz Mayis Univ, Fac Med, Dept Anat, TR-55139 Kurupelit, Samsun, Turkey.
[Aslan, Kerim; Incesu, Lutfi; Ceyhan, Meltem] Ondokuz Mayis Univ, Fac Med, Dept Radiol, TR-55139 Kurupelit, Samsun, Turkey.
RP Say, GN (reprint author), Ondokuz Mayis Univ, Tip Fak Hastanesi, Cocuk & Ergen Psikiyatrisi Anabilim Dali, TR-55139 Kurupelit, Samsun, Turkey.
EM gokcenurtasdemir@yahoo.com.tr
RI Sahin, Bunyamin/L-5414-2014
OI Sahin, Bunyamin/0000-0001-8538-8443
FU Ondokuz Mayis University Scientific Research
FX This study was supported by Ondokuz Mayis University Scientific Research
Funding.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Aoki Y, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2011.65
Friedman SD, 2003, NEUROLOGY, V60, P100
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NR 20
TC 0
Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 237
EP 242
DI 10.4306/pi.2014.11.3.237
PG 6
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000005
PM 25110495
ER
PT J
AU Yoo, HJ
Yang, SY
Cho, IH
Park, M
Kim, SA
AF Yoo, Hee Jeong
Yang, So Young
Cho, In Hee
Park, Mira
Kim, Soon Ae
TI Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based
Association Study with Korean Trios
SO PSYCHIATRY INVESTIGATION
LA English
DT Article
DE Autism spectrum disorders; Brain derived neurotropic factor;
Quantitative transmission disequilibrium test; Family based association
study
ID NEUROTROPHIC FACTOR; MENTAL-RETARDATION; SYNAPSES; SERUM
AB Objective Autism spectrum disorders (ASPS) are a group of early childhood-onset neurodevelopmental disorders characterized by deficits in social interaction and language skills, and repetitive behaviors. Brain-derived neurotrophic factor (BDNF) plays a critical role in the differentiation of normal neuronal cells during embryonic and postnatal neuronal development through its neurotrophic effects.
Methods In this study, we performed a family-based association test (FBAT) between single nucleotide polymorphisms (SNPs; rs6265, rs11030101, rs7103411, and rs7103873) or haplotypes in the BDNF gene and affection status Or several quantitative traits characterized by ADI-R with 151 Korean trios, including a child diagnosed as ASDs.
Results While no significant association was found between SNPs or haplotypes and the ASDs disease status, a quantitative transmission disequilibrium test (QTDT) by using quantitative traits identified associations of the SNPs (rs6265 and rs11030101) with a domain score for "Restricted, Repetitive and Stereotyped patterns of behavior" (C domain), especially at the subdomain scores for "encompassing preoccupation or circumscribed pattern of interest" (C1) (rs6265A allele, dominant model, p-value=0.019; rs11030101 A allele, additive model, p-value=0.015) and "preoccupations with part of objects or non-functional elements of material" (C4) (rs11030101 A allele, additive Model, p-value=0.015) within the ADI-R diagnostic algorithm. In addition, significant associations were also identified between the haplotypes and these quantitative traits (C1, p-value=0.016; C4, p-Value=0.012).
Conclusion We conclude that BDNF gene polymorphisms have a possible role in the pathogenesis of ASDs.
C1 [Yoo, Hee Jeong] Seoul Natl Univ, Bundang Hosp, Dept Neuropsychiat, Songnam, South Korea.
[Yang, So Young] Chungnam Natl Univ, Coll Pharm, Dept Pharmacol, Taejon, South Korea.
[Cho, In Hee] Gachon Univ Med & Sci, Dept Psychiat, Inchon, South Korea.
[Park, Mira] Eulji Univ, Sch Med, Dept Prevent Med, Taejon 301768, South Korea.
[Kim, Soon Ae] Eulji Univ, Sch Med, Dept Pharmacol, Taejon 301768, South Korea.
RP Kim, SA (reprint author), Eulji Univ, Sch Med, Dept Pharmacol, 77 Gyeryong Ro, Taejon 301768, South Korea.
EM sakim@eulji.ac.kr
FU National Research Foundation of Korea (NRF) - Korea government (MEST)
[2010-0007583]; Korea Healthcare Technology R&D Project from the
Ministry of Health and Welfare, Republic of Korea [A120029]; Basic
Science Research Program through the National Research Foundation of
Korea (NRF) - Ministry of Education, Science and Technology
[20100012133]
FX This work was supported by the National Research Foundation of Korea
(NRF) grant funded by the Korea government (MEST) (2010-0007583). This
work was also supported by a research grant from Korea Healthcare
Technology R&D Project (A120029) from the Ministry of Health and
Welfare, Republic of Korea. Mira Park was was supported by the Basic
Science Research Program through the National Research Foundation of
Korea (NRF) funded by the Ministry of Education, Science and Technology
(20100012133).
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NR 32
TC 0
Z9 0
PU KOREAN NEUROPSYCHIATRIC ASSOC
PI SEOUL
PA RN 522, G-FIVE CENTRAL PLAZA 1685-8 SEOCHO 4-DONG, SEOCHO-GU, SEOUL,
137-882, SOUTH KOREA
SN 1738-3684
EI 1976-3026
J9 PSYCHIAT INVEST
JI Psychiatry Investig.
PD JUL
PY 2014
VL 11
IS 3
BP 319
EP 324
DI 10.4306/pi.2014.11.3.319
PG 6
WC Psychiatry
SC Psychiatry
GA AM3SV
UT WOS:000339774000016
PM 25110506
ER
PT J
AU Perkins, MR
AF Perkins, Michael R.
TI Linguistic recycling in typical and atypical interaction
SO CLINICAL LINGUISTICS & PHONETICS
LA English
DT Article
DE Alignment; interaction; linguistic recycling; memory; priming
ID LANGUAGE; AUTISM; COMMUNICATION; CONVERSATION; PSYCHOLOGY; REPETITION;
ECHOLALIA; ALIGNMENT
AB I present evidence that linguistic "recycling" - i.e., the redeployment of linguistic material from prior utterances during conversation - is a striking and prevalent feature not only of interaction between typical speakers, but also, and notably, of interaction involving the communication impaired. In the latter case, recycling may sometimes be used as a compensatory communicative resource when linguistic ability is compromised. Despite its prevalence, however, recycling has largely been ignored by clinical linguists. In addition to providing illustrations of linguistic recycling across a range of communication disorders, I also examine how it is subserved by phenomena such as priming, short-term memory and alignment. I subsequently argue for a shift in perspective that puts recycling at the heart of our perception of how typical and atypical interaction works, and suggest a number of potential benefits for clinical linguistics, ranging from the way we understand and analyse communication disorders to how we assess and treat them.
C1 Univ Sheffield, Dept Human Commun Sci, Sheffield S10 2TS, S Yorkshire, England.
RP Perkins, MR (reprint author), Univ Sheffield, Dept Human Commun Sci, 362 Mushroom Lane, Sheffield S10 2TS, S Yorkshire, England.
EM m.perkins@sheffield.ac.uk
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NR 36
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0269-9206
EI 1464-5076
J9 CLIN LINGUIST PHONET
JI Clin. Linguist. Phon.
PD JUL-AUG
PY 2014
VL 28
IS 7-8
BP 590
EP 601
DI 10.3109/02699206.2014.926995
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AL9UJ
UT WOS:000339487100011
PM 25000380
ER
PT J
AU Weiss, AL
Rohland, P
AF Weiss, Amy L.
Rohland, Pamela
TI "Measuring up" to ethical standards in service delivery to college
students on the Autism Spectrum: A practical application of Powell's
model for ethical practices in clinical phonetics and linguistics
SO CLINICAL LINGUISTICS & PHONETICS
LA English
DT Article
DE Autism; ethical standards; intervention
AB This paper examined an interdisciplinary college-based support programme, the Communication Coaching Program (CCP), designed for students diagnosed on the autism spectrum in light of six ethical constructs described by Powell. Collecting data to monitor the successes and ongoing needs of individual participants in the programme is of vital importance, of course, but only addresses a portion of the efficacy question. In addition, the authors, who co-direct the programme and represent different professional expertise and perspectives, recognize the importance of determining whether their evolving intervention model has also been successful in meeting the ethical standards of their respective professions. Careful review of the 4 years of the CCP's operation in terms of ethical constructs has yielded evidence that the CCP, although based on sound principles of theory and scholarship, should be further individualized to meet the particular needs of participants diagnosed with deficits in social communication and executive functioning skills.
C1 [Weiss, Amy L.] Univ Rhode Isl, Dept Commun Disorders, Kingston, RI 02881 USA.
[Rohland, Pamela] Univ Rhode Isl, Off Student Life, Disabil Serv Students, Kingston, RI 02881 USA.
RP Weiss, AL (reprint author), Univ Rhode Isl, Dept Commun Disorders, Kingston, RI 02881 USA.
EM weissa@mail.uri.edu
CR AHEAD-Association of Higher Education and Disability, 2004, PROF STAND
AHEAD-Association of Higher Education and Disability, 2004, COD ETH
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Speech-Language-Hearing Association, 2010, COD ETH ETH
American Speech-Language-Hearing Association, 2006, ROL RESP SPEECH LANG
Brown J., 2009, STUDENTS ASPERGER SY
Council for Clinical Certification in Audiology and Speech-Language Pathology of the American Speech-Language-Hearing Association, 2012, 2014 STAND CERT CLIN
Hewitt LE, 2011, TOP LANG DISORD, V31, P273, DOI 10.1097/TLD.0b013e318227fd19
Larson V., 2005, ASPERGER SYNDROME ST
Pope R. L., 2004, MULTICULTURAL COMPET
Powell TW, 2007, CLIN LINGUIST PHONET, V21, P851, DOI 10.1080/02699200701576777
Shattuck PT, 2012, PEDIATRICS, V129, P1042, DOI 10.1542/peds.2011-2864
Young Margaret B., 2012, Morbidity and Mortality Weekly Report, V61, P1
White SW, 2011, AUTISM, V15, P683, DOI 10.1177/1362361310393363
NR 14
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0269-9206
EI 1464-5076
J9 CLIN LINGUIST PHONET
JI Clin. Linguist. Phon.
PD JUL-AUG
PY 2014
VL 28
IS 7-8
BP 627
EP 638
DI 10.3109/02699206.2014.927002
PG 12
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AL9UJ
UT WOS:000339487100014
PM 25000383
ER
PT J
AU Sahun, I
Marechal, D
Pereira, PL
Nalesso, V
Gruart, A
Garcia, JMD
Antonarakis, SE
Dierssen, M
Herault, Y
AF Sahun, Ignasi
Marechal, Damien
Pereira, Patricia Lopes
Nalesso, Valerie
Gruart, Agnes
Delgado Garcia, Jose Maria
Antonarakis, Stylianos E.
Dierssen, Mara
Herault, Yann
TI Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy
of a Genomic Region Implicated in Down Syndrome
SO GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; COPY-NUMBER VARIATION; LONG-TERM DEPRESSION;
RARE DE-NOVO; FUNCTIONAL IMPACT; MICE; GENE; BEHAVIOR; DELPHILIN;
REVEALS
AB Down syndrome (DS) is due to increased copy number of human chromosome 21. The contribution of different genetic regions has been tested using mouse models. As shown previously, the Abcg1-U2af1 genetic region contributes to cognitive defects in working and short-term recognition memory in Down syndrome mouse models. Here we analyzed the impact of monosomy of the same genetic interval, using a new mouse model, named Ms2Yah. We used several cognitive paradigms and did not detect defects in the object recognition or the Morris water maze tests. However, surprisingly, Ms2Yah mice displayed increased associative memory in a pure contextual fear-conditioning test and decreased social novelty interaction along with a larger long-term potentiation recorded in the CA1 area following stimulation of Schaffer collaterals. Whole-genome expression studies carried out on hippocampus showed that the transcription of only a small number of genes is affected, mainly from the genetic interval (Cbs, Rsph1, Wdr4), with a few additional ones, including the postsynaptic Gabrr2, Gabbr1, Grid2p, Park2, and Dlg1 and the components of the Ubiquitin-mediated proteolysis (Anapc1, Rnf7, Huwe1, Park2). The Abcgl-U2af1 region is undeniably encompassing dosage-sensitive genes or elements whose change in copy number directly affects learning and memory, synaptic function, and autistic related behavior.
C1 [Sahun, Ignasi; Dierssen, Mara] Univ Pompeu Fabra, Ctr Genom Regulat, Syst Biol Programme, E-08003 Barcelona, Spain.
[Sahun, Ignasi; Dierssen, Mara] Ctr Invest Biomed Red Enfermedades Raras, E-08003 Barcelona, Spain.
[Sahun, Ignasi; Marechal, Damien; Pereira, Patricia Lopes; Nalesso, Valerie; Herault, Yann] Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Ctr Natl Rech Sci, UMR7104, F-67404 Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Inst Natl Sante & Rech Med, U964, Illkirch Graffenstaden, France.
[Marechal, Damien; Nalesso, Valerie; Herault, Yann] Univ Strasbourg, F-67400 Illkirch Graffenstaden, France.
[Gruart, Agnes; Delgado Garcia, Jose Maria] Univ Pablo Olavide, Div Neurociencias, Seville 41013, Spain.
[Antonarakis, Stylianos E.] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland.
[Herault, Yann] Groupement lnteret Econ Ctr Europeen Rech Biol Mo, PHENOMIN, Inst Clin Souris, F-67404 Illkirch Graffenstaden, France.
RP Herault, Y (reprint author), Ctr Natl Rech Sci, Inst Genet & Biol Mol & Cellulaire, 1 Rue Laurent Fries,BP 10142,Parc Innovat, F-67404 Illkirch Graffenstaden, France.
EM herault@igbmc.fr
RI Antonarakis, Stylianos/N-8866-2014
OI Antonarakis, Stylianos/0000-0001-8907-5823
FU French CNRS; French Institut National de la Sante et de la Recherche
Medicale; University of Strasbourg; "Centre Europeen de Recherche en
Biomedecine"; "Fondation Jerome Lejeune"; Koplowitz Foundation; Fragile
X Research Foundation (FRAXA); Association Francaise contre les
Myopathies (AFM) Foundation; Spanish Ministry of Economy [SAF2010-16427,
SAF2007-31093-E, FIS-PI 082038]; Marato TV3; European Commission
(AnEUploidy project) [LSHG-CT-2006-037627]; DURSI [Grups consolidats 09
2009SGR1313]
FX We thank members of the research group, of the Institut de Genetique de
Biologie Moleculaire et Cellulaire (IGBM), of the Institut Clinique de
la Souris (ICS), and of the AnEUploidy consortium for their helpful
comments (www.aneuploidy.org). We are grateful to the animal caretakers
of the Centre National de la Recherche Scientifique (CNRS) UPS44 TAAM
unit and of the ICS. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript. This project was supported by the French CNRS; the French
Institut National de la Sante et de la Recherche Medicale; the
University of Strasbourg and the "Centre Europeen de Recherche en
Biomedecine"; the "Fondation Jerome Lejeune"; Koplowitz, Fragile X
Research Foundation (FRAXA), and Association Francaise contre les
Myopathies (AFM) Foundations; the Spanish Ministry of Economy
(SAF2010-16427, SAF2007-31093-E, and FIS-PI 082038); Marato TV3; and the
European Commission (AnEUploidy project LSHG-CT-2006-037627 to Y.H. and
M.D.) The laboratory of M.D. is supported by DURSI (Grups consolidats 09
2009SGR1313).
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NR 58
TC 1
Z9 1
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 0016-6731
EI 1943-2631
J9 GENETICS
JI Genetics
PD JUL
PY 2014
VL 197
IS 3
BP 899
EP 912
DI 10.1534/genetics.114.165241
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA AL8MA
UT WOS:000339391900009
PM 24752061
ER
PT J
AU Kato, F
Iwanaga, R
Chono, M
Fujihara, S
Tokunaga, A
Murata, J
Tanaka, K
Nakane, H
Tanaka, G
AF Kato, Fumi
Iwanaga, Ryoichiro
Chono, Mami
Fujihara, Saori
Tokunaga, Akiko
Murata, Jun
Tanaka, Koji
Nakane, Hideyuki
Tanaka, Goro
TI Relationship between Sympathetic Skin Responses and Auditory
Hypersensitivity to Different Auditory Stimuli
SO JOURNAL OF PHYSICAL THERAPY SCIENCE
LA English
DT Article
DE Auditory hypersensitivity; Sympathetic nervous system; Auditory stimuli
ID MENTAL SWEATING RESPONSE; AUTISTIC SPECTRUM; SENSORY PROFILE; CHILDREN;
ABNORMALITIES; DISORDER; HUMANS
AB [Purpose] Auditory hypersensitivity has been widely reported in patients with autism spectrum disorders. However, the neurological background of auditory hypersensitivity is currently not clear. The present study examined the relationship between sympathetic nervous system responses and auditory hypersensitivity induced by different types of auditory stimuli. [Methods] We exposed 20 healthy young adults to six different types of auditory stimuli. The amounts of palmar sweating resulting from the auditory stimuli were compared between groups with (hypersensitive) and without (non-hypersensitive) auditory hypersensitivity. [Results] Although no group x type of stimulus x first stimulus interaction was observed for the extent of reaction, significant type of stimulus x first stimulus interaction was noted for the extent of reaction. For an 80 dB-6,000 Hz stimulus, the trends for palmar sweating differed between the groups. For the first stimulus, the variance became larger in the hypersensitive group than in the non-hypersensitive group. [Conclusion] Subjects who regularly felt excessive reactions to auditory stimuli tended to have excessive sympathetic responses to repeated loud noises compared with subjects who did not feel excessive reactions. People with auditory hypersensitivity may be classified into several subtypes depending on their reaction patterns to auditory stimuli.
C1 [Kato, Fumi; Iwanaga, Ryoichiro; Tokunaga, Akiko; Murata, Jun; Tanaka, Koji; Nakane, Hideyuki; Tanaka, Goro] Nagasaki Univ, Grad Sch Biomed Sci, Dept Psychiat Rehabil Sci, Nagasaki 8528520, Japan.
[Chono, Mami] Hirado City Hlth & Welf Ctr Children Disabil, Hirado, Japan.
[Fujihara, Saori] NPO Peaacas, Gifu, Japan.
RP Kato, F (reprint author), Nagasaki Univ, Grad Sch Biomed Sci, Dept Psychiat Rehabil Sci, 1-7-1 Sakamoto, Nagasaki 8528520, Japan.
EM fumik_de@hotmail.com
CR Ashburner J, 2008, AM J OCCUP THER, V62, P564
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NR 19
TC 0
Z9 0
PU SOC PHYSICAL THERAPY SCIENCE
PI TOKYO
PA C/O PUBLICATION CENTER, 1-24-12 SUGAMO, TOSHIMA-KU, TOKYO, 170-0002,
JAPAN
SN 0915-5287
EI 2187-5626
J9 J PHYS THER SCI
JI J. Phys. Ther. Sci.
PD JUL
PY 2014
VL 26
IS 7
BP 1087
EP 1091
PG 5
WC Rehabilitation
SC Rehabilitation
GA AM1RU
UT WOS:000339626700031
PM 25140103
ER
PT J
AU Swettenham, J
Remington, A
Murphy, P
Feuerstein, M
Grim, K
Lavie, N
AF Swettenham, John
Remington, Anna
Murphy, Patrick
Feuerstein, Maike
Grim, Kelly
Lavie, Nilli
TI Seeing the Unseen: Autism Involves Reduced Susceptibility to
Inattentional Blindness
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; inattentional blindness; attention; perceptual
load; development
ID SUPERIOR VISUAL-SEARCH; SELECTIVE ATTENTION; PERCEPTUAL LOAD; SPECTRUM
DISORDER; COGNITIVE CONTROL; CHILDREN; TASK; CORTEX; INDIVIDUALS;
RESPONSES
AB Objective: Attention research in individuals with autism spectrum disorder (ASD) has produced conflicting results. Some findings demonstrate greater distractibility while others suggest superior focused attention. Applying Lavie's load theory of attention to account for this discrepancy led us to hypothesize increased perceptual capacity in ASD. Preliminary support for our hypothesis has so far been found for adults with ASD with reaction time (RT) and signal detection sensitivity measures. Here we test the novel prediction we derived from this hypothesis that children with ASD should have lower rates of inattentional blindness than controls. Method: Twenty-four children with ASD (mean age = 10 years 10 months) and 39 typically developing children (age and IQ matched) took part in the study. We assessed the effects of perceptual load on the rates of inattentional blindness in each group. Participants performing a line discrimination task in either a high load or low load condition were presented with an unexpected extra stimulus on a critical trial. Performance on the line judgment task and rates of detection and stimulus identification were recorded. Results: Overall rates of detection and identification were higher in the ASD group than in the controls. Moreover, whereas both detection and identification rates were significantly lower in the high (compared with low) load conditions for the controls, these were unaffected by load in the ASD group. Conclusion: Reduced inattentional blindness rates under load in ASD suggests higher perceptual capacity is a core feature, present from childhood and leading to superior performance in various measures of perception and attention.
C1 [Swettenham, John; Murphy, Patrick; Feuerstein, Maike; Grim, Kelly; Lavie, Nilli] UCL, London WC1N 1PF, England.
[Remington, Anna; Murphy, Patrick; Feuerstein, Maike; Grim, Kelly; Lavie, Nilli] UCL, Inst Cognit Neurosci, London WC1N 1PF, England.
[Remington, Anna] Univ Oxford, Dept Expt Psychol, Oxford OX1 2JD, England.
RP Swettenham, J (reprint author), UCL, Chandler House,2 Wakefield St, London WC1N 1PF, England.
EM j.swettenham@ucl.ac.uk
FU Department of Developmental Science; Scott Family Junior Research
Fellowship
FX We thank Dr Eleni Matechou for her advice regarding statistical
analyses. Preparation of this article was supported by the Department of
Developmental Science (JS) and the Scott Family Junior Research
Fellowship (AR). We gratefully acknowledge the efforts of staff and
pupils at schools in London who participated in the research, the
National Autistic Society (United Kingdom) and the charity Resources for
Autism.
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NR 49
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0894-4105
EI 1931-1559
J9 NEUROPSYCHOLOGY
JI Neuropsychology
PD JUL
PY 2014
VL 28
IS 4
BP 563
EP 570
DI 10.1037/neu0000042
PG 8
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA AL8OF
UT WOS:000339398000009
PM 24417193
ER
PT J
AU Crepel, A
De Wolf, V
Brison, N
Ceulemans, B
Walleghem, D
Peuteman, G
Lambrechts, D
Steyaert, J
Noens, I
Devriendt, K
Peeters, H
AF Crepel, An
De Wolf, Veerle
Brison, Nathalie
Ceulemans, Berten
Walleghem, Didier
Peuteman, Gilian
Lambrechts, Diether
Steyaert, Jean
Noens, Ilse
Devriendt, Koen
Peeters, Hilde
TI Association of CDH11 With Non-Syndromic ASD
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE cadherin; autism; chromosomal rearrangement; de novo
ID AUTISM SPECTRUM DISORDERS; CRYPTIC GENOMIC IMBALANCES; COPY-NUMBER
VARIATION; DE-NOVO; CHROMOSOMAL REARRANGEMENTS; STRUCTURAL VARIATION;
ARRAY CGH; TRANSLOCATIONS; COMMON; CADHERINS
AB We report a sporadic patient with Autism Spectrum Disorder (ASD), mild intellectual disability and attention deficit hyperactivity disorder (ADHD) with a de novo partial deletion of CADHERIN 11 (CDH11). The deletion is associated with one of the breakpoints of a de novo complex chromosomal rearrangement 46, XY,t(3;16;5)(q29;q22;q15)inv4(p14;q21) ins(4;5)(q21;q14.3q15). Cadherins are cell adhesion molecules involved in synaptic plasticity. Since genetic evidence points towards a role for cadherins in ASD, we studied the possible contribution of CDH11 to ASD. A case-control association study for 14 SNP variants in 519 ASD cases and 1,192 controls showed significant overrepresentation of rs7187376C/C genotypes in the patient group [P = 0.0049 (Chi-square = 7.90 1 df) and O.R. 3.88 C.I. = 1.403-10.733]. There was no association for C/T versus T/T [P = 0.6772 (Chi-square = 0.17 1 df)] nor was there association at the allelic level [P = 0.4373 (Chi-square = 0.6 1 df)]. In addition to the association of common variants in CDH11 with ASD, we studied the possible contribution of rare variants by sequencing CDH11 in 247 patients, and found three novel variants in the coding region of CDH1, of which two variants were unlikely to be causal. Targeted CNV screening in these 247 patients did not reveal copy number variation in CDH11. In conclusion, the data provide evidence for the involvement of CDH11 in ASD which is consistent with the association of other cadherins with ASD and neuropsychiatric diseases. (C) 2014 Wiley Periodicals, Inc.
C1 [Crepel, An; De Wolf, Veerle; Brison, Nathalie; Devriendt, Koen; Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.
[Crepel, An; De Wolf, Veerle; Brison, Nathalie; Steyaert, Jean; Noens, Ilse; Devriendt, Koen; Peeters, Hilde] Leuven Autism Res LAuRes, Leuven, Belgium.
[Ceulemans, Berten] Univ Antwerp, Antwerp Univ Hosp UZA, Dept Neurol Pediat Neurol, Edegem, Belgium.
[Walleghem, Didier] Univ Child & Adolescent Psychiat, Antwerp Hosp Network ZNA, Antwerp, Belgium.
[Peuteman, Gilian; Lambrechts, Diether] VIB, Vesalius Res Ctr, Leuven, Belgium.
[Peuteman, Gilian; Lambrechts, Diether] Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium.
[Steyaert, Jean] Katholieke Univ Leuven, Dept Child & Adolescent Psychiat, Leuven, Belgium.
[Steyaert, Jean] Maastricht Univ, Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands.
[Steyaert, Jean] Maastricht Univ, Res Inst Growth & Dev GROW, Maastricht, Netherlands.
[Noens, Ilse] Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium.
[Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
RP Peeters, H (reprint author), Univ Leuven, Ctr Human Genet, Herestr 49, B-3000 Leuven, Belgium.
EM hilde.peeters@med.kuleuven.be
RI Steyaert, Jean/B-5326-2015
OI Steyaert, Jean/0000-0003-2512-4694
FU Research Actions KULeuven [GOA/12/015]; Belgian Science Policy Office
Interuniversity Attraction Poles (BELSPO-IAP) IAP [P7/43-BeMGI];
Clinical Research Foundation of UZLeuven
FX Grant sponsor: Research Actions KULeuven GOA/12/015; Grant sponsor:
Belgian Science Policy Office Interuniversity Attraction Poles
(BELSPO-IAP) IAP; Grant number: P7/43-BeMGI. K.D.; Grant sponsor:
Clinical Research Foundation of UZLeuven.
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NR 46
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD JUL
PY 2014
VL 165
IS 5
BP 391
EP 398
DI 10.1002/ajmg.b.32243
PG 8
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AL4IU
UT WOS:000339097200001
PM 24839052
ER
PT J
AU Cozzolino, R
De Magistris, L
Saggese, P
Stocchero, M
Martignetti, A
Di Stasio, M
Malorni, A
Marotta, R
Boscaino, F
Malorni, L
AF Cozzolino, Rosaria
De Magistris, Laura
Saggese, Paola
Stocchero, Matteo
Martignetti, Antonella
Di Stasio, Michele
Malorni, Antonio
Marotta, Rosa
Boscaino, Floriana
Malorni, Livia
TI Use of solid-phase microextraction coupled to gas chromatography-mass
spectrometry for determination of urinary volatile organic compounds in
autistic children compared with healthy controls
SO ANALYTICAL AND BIOANALYTICAL CHEMISTRY
LA English
DT Article
DE Autism; Urine samples; Solid-phase microextraction; Volatile organic
compounds; Orthogonal projections to latent structures discriminant
analysis
ID SPECTRUM DISORDERS; CANCER BIOMARKERS; OXIDATIVE STRESS; METABOLOMICS;
METABONOMICS; DIAGNOSIS; TRIMETHYLAMINE; IDENTIFICATION; CHEMOMETRICS;
SEROTONIN
AB Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders which have a severe life-long effect on behavior and social functioning, and which are associated with metabolic abnormalities. Their diagnosis is on the basis of behavioral and developmental signs usually detected before three years of age, and there is no reliable biological marker. The objective of this study was to establish the volatile urinary metabolomic profiles of 24 autistic children and 21 healthy children (control group) to investigate volatile organic compounds (VOCs) as potential biomarkers for ASDs. Solid-phase microextraction (SPME) using DVB/CAR/PDMS sorbent coupled with gas chromatography-mass spectrometry was used to obtain the metabolomic information patterns. Urine samples were analyzed under both acid and alkaline pH, to profile a range of urinary components with different physicochemical properties. Multivariate statistics techniques were applied to bioanalytical data to visualize clusters of cases and to detect the VOCs able to differentiate autistic patients from healthy children. In particular, orthogonal projections to latent structures discriminant analysis (OPLS-DA) achieved very good separation between autistic and control groups under both acidic and alkaline pH, identifying discriminating metabolites. Among these, 3-methyl-cyclopentanone, 3-methyl-butanal, 2-methyl-butanal, and hexane under acid conditions, and 2-methyl-pyrazine, 2,3-dimethyl-pyrazine, and isoxazolo under alkaline pH had statistically higher levels in urine samples from autistic children than from the control group. Further investigation with a higher number of patients should be performed to outline the metabolic origins of these variables, define a possible association with ASDs, and verify the usefulness of these variables for early-stage diagnosis.
C1 [Cozzolino, Rosaria; Saggese, Paola; Martignetti, Antonella; Di Stasio, Michele; Boscaino, Floriana] CNR, Inst Food Sci, I-83100 Avellino, Italy.
[De Magistris, Laura] Univ Naples 2, CIRANAD, I-80131 Naples, Italy.
[Stocchero, Matteo] S IN Soluzioni Informat Srl, I-36100 Vicenza, Italy.
[Malorni, Antonio] Univ Naples 2, Dept Environm Biol & Pharmaceut Sci & Technol, I-81100 Caserta, Italy.
[Marotta, Rosa] Magna Graecia Univ Catanzaro, Dept Psychiat, I-88100 Catanzaro, Italy.
[Malorni, Livia] Univ Naples 2, Dept Expt Med, Sect Hyg Occupat Med & Forens Med,Sch Med, I-80138 Naples, Italy.
RP Cozzolino, R (reprint author), CNR, Inst Food Sci, Via Roma 64, I-83100 Avellino, Italy.
EM rcozzolino@isa.cnr.it
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NR 62
TC 0
Z9 0
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1618-2642
EI 1618-2650
J9 ANAL BIOANAL CHEM
JI Anal. Bioanal. Chem.
PD JUL
PY 2014
VL 406
IS 19
BP 4649
EP 4662
DI 10.1007/s00216-014-7855-z
PG 14
WC Biochemical Research Methods; Chemistry, Analytical
SC Biochemistry & Molecular Biology; Chemistry
GA AL5EE
UT WOS:000339155500009
PM 24828982
ER
PT J
AU Liu, YZ
Li, BS
Tan, RJ
Zhu, XL
Wang, YD
AF Liu, Yongzhuang
Li, Bingshan
Tan, Renjie
Zhu, Xiaolin
Wang, Yadong
TI A gradient-boosting approach for filtering de novo mutations in
parent-offspring trios
SO BIOINFORMATICS
LA English
DT Article
ID GENERATION SEQUENCING DATA; INTELLECTUAL DISABILITY; SOMATIC MUTATION;
DISCOVERY; AUTISM; SCHIZOPHRENIA; IDENTIFICATION; PATTERNS; MACHINE;
RATES
AB Motivation: Whole-genome and -exome sequencing on parent-offspring trios is a powerful approach to identifying disease-associated genes by detecting de novo mutations in patients. Accurate detection of de novo mutations from sequencing data is a critical step in triobased genetic studies. Existing bioinformatic approaches usually yield high error rates due to sequencing artifacts and alignment issues, which may either miss true de novo mutations or call too many false ones, making downstream validation and analysis difficult. In particular, current approaches have much worse specificity than sensitivity, and developing effective filters to discriminate genuine from spurious de novo mutations remains an unsolved challenge. Results: In this article, we curated 59 sequence features in whole genome and exome alignment context which are considered to be relevant to discriminating true de novo mutations from artifacts, and then employed a machine-learning approach to classify candidates as true or false de novo mutations. Specifically, we built a classifier, named De Novo Mutation Filter (DNMFilter), using gradient boosting as the classification algorithm. We built the training set using experimentally validated true and false de novo mutations as well as collected false de novo mutations from an in-house large-scale exomesequencing project. We evaluated DNMFilter's theoretical performance and investigated relative importance of different sequence features on the classification accuracy. Finally, we applied DNMFilter on our in-house whole exome trios and one CEU trio from the 1000 Genomes Project and found that DNMFilter could be coupled with commonly used de novo mutation detection approaches as an effective filtering approach to significantly reduce false discovery rate without sacrificing sensitivity. Availability: The software DNMFilter implemented using a combination of Java and R is freely available from the website at http:// humangenome. duke. edu/software.
C1 [Liu, Yongzhuang; Tan, Renjie; Wang, Yadong] Harbin Inst Technol, Sch Comp Sci & Technol, Harbin 150001, Peoples R China.
[Liu, Yongzhuang; Tan, Renjie; Zhu, Xiaolin] Duke Univ, Ctr Human Genome Variat, Durham, NC 27708 USA.
[Li, Bingshan] Vanderbilt Univ, Dept Mol Physiol & Biophys, Ctr Human Genet Res, Nashville, TN 37235 USA.
RP Wang, YD (reprint author), Harbin Inst Technol, Sch Comp Sci & Technol, Harbin 150001, Peoples R China.
FU Epilepsy Phenome/Genome Project NIH [U01-NS053998]; Epi4K Project
1-Epileptic Encephalopathies NIH [U01-NS077364]; Epi4K-Sequencing,
Biostatistics and Bioinformatics Core NIH [U01-NS077303];
Epi4K-Phenotyping and Clinical Informatics Core NIH [U01-NS077276];
Natural Science Foundation of China [61173085, 61102149]; Governmental
scholarship from China Scholarship Council (CSC)
FX The Epilepsy Phenome/Genome Project NIH grant U01-NS053998; Epi4K
Project 1-Epileptic Encephalopathies NIH grant U01-NS077364;
Epi4K-Sequencing, Biostatistics and Bioinformatics Core NIH grant
U01-NS077303; Epi4K-Phenotyping and Clinical Informatics Core NIH grant
U01-NS077276; Natural Science Foundation of China [grant numbers:
61173085, 61102149]; Governmental scholarship from China Scholarship
Council (CSC) (to Y.L. and R.T.).
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NR 31
TC 1
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1367-4803
EI 1460-2059
J9 BIOINFORMATICS
JI Bioinformatics
PD JUL 1
PY 2014
VL 30
IS 13
BP 1830
EP 1836
DI 10.1093/bioinformatics/btu141
PG 7
WC Biochemical Research Methods; Biotechnology & Applied Microbiology;
Computer Science, Interdisciplinary Applications; Mathematical &
Computational Biology; Statistics & Probability
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Computer Science; Mathematical & Computational Biology; Mathematics
GA AL4SB
UT WOS:000339121900006
PM 24618463
ER
PT J
AU Tao, YL
Wu, Q
Guo, X
Zhang, ZZ
Shen, YY
Wang, FD
AF Tao, Yunlong
Wu, Qian
Guo, Xin
Zhang, Zhuzhen
Shen, Yuanyuan
Wang, Fudi
TI MBD5 regulates iron metabolism via methylation-independent genomic
targeting of Fth1 through KAT2A in mice
SO BRITISH JOURNAL OF HAEMATOLOGY
LA English
DT Article
DE haemochromatosis; iron overload; epigenetic; histone acetylation; DNA
methylation
ID HISTONE DEACETYLASE COMPLEX; AUTISM SPECTRUM DISORDER; BINDING-PROTEIN
MBD1; H-FERRITIN GENE; TRANSCRIPTIONAL REPRESSION; DEVELOPMENTAL DELAY;
2Q23.1 MICRODELETION; CELLS; MOUSE; HOMEOSTASIS
AB Ferritin plays important roles in iron metabolism and controls iron absorption in the intestine. The ferritin subunits ferritin heavy chain (Fth1) and ferritin light chain (Ftl1) are tightly regulated at both the transcriptional and post-transcriptional levels. However, mechanisms of maintaining stable, basal expression of Fth1 are poorly understood. Here, we show that global deletion of Mbd5 in mice induces an iron overload phenotype. Liver and serum iron levels in Mbd5(-/-) mice were 3.2-fold and 1.5-fold higher respectively, than wild-type littermates; moreover, serum ferritin was increased >5-fold in the Mbd5(-/-) mice. Mbd5 encodes a member of the methyl-CpG binding domain family; however, the precise function of this gene is poorly understood. Here, we found that intestinal Fth1 mRNA levels were decreased in Mbd5(-/-) mice. Loss of Fth1 expression in the intestine could lead to iron over-absorption. Furthermore, deleting Mbd5 specifically in the intestine resulted in a phenotype similar to that of conditional deletion of Fth1 mice. An Fth1 promoter-report luciferase assay indicated that overexpression of Mbd5 enhanced Fth1 transcription in a dose-dependent manner. Histone H4 acetylation of the Fth1 promoter was reduced in the intestine of Mbd5(-/-) mice and further analysis showed that histone acetyltransferase KAT2A was essential for MBD5-induced Fth1 transcription.
C1 [Tao, Yunlong; Wu, Qian; Guo, Xin; Zhang, Zhuzhen; Shen, Yuanyuan] Chinese Acad Sci, Key Lab Nutr & Metab, Shanghai Inst Biol Sci, Inst Nutr Sci,Grad Sch, Shanghai, Peoples R China.
[Tao, Yunlong; Wu, Qian; Guo, Xin; Zhang, Zhuzhen; Wang, Fudi] Zhejiang Univ, Sch Publ Hlth, Dept Nutr, Inst Nutr & Food Safety,Collaborat Innovat Ctr Di, Hangzhou 310058, Zhejiang, Peoples R China.
RP Wang, FD (reprint author), Zhejiang Univ, Sch Publ Hlth, Dept Nutr, 866 Yuhangtang Rd, Hangzhou 310058, Zhejiang, Peoples R China.
EM fwang@zju.edu.cn
FU Ministry of Science and Technology of China [2011CB966200,
2012BAD33B05]; National Natural Science Foundation of China [31030039,
31225013, 31330036]; Distinguished Professorship Programme of Zhejiang
University
FX The authors would like to thank Dr. Guoliang Xu (Institute of
Biochemistry and Cell Biology, SIBS, CAS) for sharing his
Mbd5-/- mice and Mbd5 expression plasmids, Dr. Yoshiaki Tsuji
(North Carolina State University) for providing the Fth1-promoter 4.8 kb
pGL3 plasmids, and Pere Puigserver (Harvard Medical School) for
providing KAT2A expression plasmid. This study was supported by research
grants from the Ministry of Science and Technology of China
(2011CB966200, and 2012BAD33B05) and the National Natural Science
Foundation of China (31030039, 31225013 and 31330036). This study was
also supported by the Distinguished Professorship Programme of Zhejiang
University (to FW).
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NR 49
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0007-1048
EI 1365-2141
J9 BRIT J HAEMATOL
JI Br. J. Haematol.
PD JUL
PY 2014
VL 166
IS 2
BP 279
EP 291
DI 10.1111/bjh.12863
PG 13
WC Hematology
SC Hematology
GA AL7VO
UT WOS:000339344700017
PM 24750026
ER
PT J
AU Hurt, E
Arnold, LE
Lofthouse, N
AF Hurt, Elizabeth
Arnold, L. Eugene
Lofthouse, Nicholas
TI Quantitative EEG Neurofeedback for the Treatment of Pediatric
Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorders,
Learning Disorders, and Epilepsy
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Neurofeedback; Neurotherapy; EEG biofeedback; Quantitative EEG; ADHD;
Autism spectrum disorders; Learning disorders; Epilepsy
ID RANDOMIZED CONTROLLED-TRIAL; DISABLED CHILDREN; CLINICAL-TRIAL; ADHD;
BIOFEEDBACK; IMPULSIVITY; METAANALYSIS; POTENTIALS
AB Neurofeedback (NF) using surface electroencephalographic signals has been used to treat various child psychiatric disorders by providing patients with video/audio information about their brain's electrical activity in real-time. Research data are reviewed and clinical recommendations are made regarding NF treatment of youth with attention deficit/hyperactivity disorder, autism, learning disorders, and epilepsy. Most NF studies are limited by methodological issues, such as failure to use or test the validity of a full-blind or sham NF. The safety of NF treatment has not been thoroughly investigated in youth or adults, although clinical experience suggests reasonable safety.
C1 [Hurt, Elizabeth] Wright State Univ, Sch Profess Psychol, Dayton, OH 45435 USA.
[Arnold, L. Eugene] Ohio State Univ, Nisonger Ctr, Dept Psychiat, Columbus, OH 43210 USA.
[Lofthouse, Nicholas] Sch Profess Psychol, Columbus, OH 43235 USA.
RP Hurt, E (reprint author), Wright State Univ, Sch Profess Psychol, 053 Student Union, Dayton, OH 45435 USA.
EM Beth.Hurt@wright.edu
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 67
TC 1
Z9 1
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 1056-4993
EI 1558-0490
J9 CHILD ADOL PSYCH CL
JI Child Adolesc. Psychiatr. N. Am.
PD JUL
PY 2014
VL 23
IS 3
BP 465
EP +
DI 10.1016/j.chc.2014.02.001
PG 23
WC Psychiatry
SC Psychiatry
GA AL8TH
UT WOS:000339411900003
PM 24975622
ER
PT J
AU Yinger, OS
Gooding, L
AF Yinger, Olivia Swedberg
Gooding, Lori
TI Music Therapy and Music Medicine for Children and Adolescents
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Music therapy; Music medicine; Child and adolescent psychiatry; Mental
health; Research
ID GROUP-PSYCHOTHERAPY; SELF-ESTEEM; AUTISM; PROGRAM; SKILLS; BEHAVIOR;
INTERVENTIONS; METAANALYSIS; PREDICTORS; DISORDERS
AB This article summarizes the research on music therapy and music medicine for children and adolescents with diagnoses commonly treated by psychiatrists. Music therapy and music medicine are defined, effects of music on the brain are described, and music therapy research in psychiatric treatment is discussed. Music therapy research with specific child/adolescent populations is summarized, including disorders usually diagnosed in childhood, substance abuse, mood/anxiety disorders, and eating disorders. Clinical implications are listed, including suggestions for health care professionals seeking to use music medicine techniques. Strengths and weaknesses of music therapy treatment are discussed, as well as areas for future research.
C1 [Yinger, Olivia Swedberg; Gooding, Lori] Univ Kentucky, Coll Fine Arts, Sch Mus, Lexington, KY 40506 USA.
RP Yinger, OS (reprint author), Univ Kentucky, Coll Fine Arts, Sch Mus, 105 Fine Arts, Lexington, KY 40506 USA.
EM olivia.yinger@uky.edu
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American Music Therapy Association, 2011, PROF REQ MUS THER
American Music Therapy Association, 2011, WHAT IS MUS THER
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NR 86
TC 0
Z9 0
PU W B SAUNDERS CO-ELSEVIER INC
PI PHILADELPHIA
PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA
SN 1056-4993
EI 1558-0490
J9 CHILD ADOL PSYCH CL
JI Child Adolesc. Psychiatr. N. Am.
PD JUL
PY 2014
VL 23
IS 3
BP 535
EP +
DI 10.1016/j.chc.2013.03.003
PG 20
WC Psychiatry
SC Psychiatry
GA AL8TH
UT WOS:000339411900005
PM 24975624
ER
PT J
AU Terzian, ALB
Micale, V
Wotjak, CT
AF Terzian, Ana Luisa B.
Micale, Vincenzo
Wotjak, Carsten T.
TI Cannabinoid receptor type 1 receptors on GABAergic vs. glutamatergic
neurons differentially gate sex-dependent social interest in mice
SO EUROPEAN JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE CB1; depression; GABA; glutamate; sexual interest; social behavior
ID ENDOCANNABINOID SYSTEM; ANXIETY RESPONSES; BIMODAL CONTROL; KNOCKOUT
MICE; ANIMAL-MODELS; CB1; BEHAVIOR; DEPRESSION; FEAR; AROUSAL
AB Abnormalities in social behavior are found in almost all psychiatric disorders, such as anxiety, depression, autism, and schizophrenia. Thus, comprehension of the neurobiological basis of social interaction is important for a better understanding of numerous pathologies and improved treatments. Several findings have suggested that an alteration of cannabinoid receptor type 1 (CB1) receptor function could be involved in the pathophysiology of such disorders. However, the role of CB1 receptors is still unclear, and their localisation on different neuronal subpopulations may produce distinct outcomes. To dissect the role of CB1 receptors in different neuronal populations, we used male knockout mice and their respective control littermates [total deletion (CB1(-/-)); specific deletion on cortical glutamatergic neurons (Glu-CB1(-/-)) or on GABAergic interneurons (GABA-CB1(-/-)), and wild-type (WT) mice treated with the CB1 antagonist/inverse agonist SR141716A (3 mg/kg). Mice were required to perform different social tasks - direct social interaction and social investigation. Direct interaction of two male mice was not modified in any group; however, when they were paired with females, Glu-CB1(-/-) mice showed reduced interaction. Also, exploration of the male stimulus subject in the three-chamber social investigation test was almost unaffected. The situation was completely different when a female was used as the stimulus subject. In this case, Glu-CB1(-/-) mice showed reduced interest in the social stimulus, mimicking the phenotype of CB1(-/-) or WT mice treated with SR141716A. GABA-CB1(-/-) mice showed the opposite phenotype, by spending more time investigating the social stimulus. In conclusion, we provide evidence that CB1 receptors specifically modulate the social investigation of female mice in a neuronal subtype-specific manner.
C1 [Terzian, Ana Luisa B.; Micale, Vincenzo; Wotjak, Carsten T.] Max Planck Inst Psychiat, Res Grp Neural Plast, D-80804 Munich, Germany.
[Terzian, Ana Luisa B.] Univ Munich, Grad Sch Syst Neurosci, Munich, Germany.
[Micale, Vincenzo] Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic.
RP Wotjak, CT (reprint author), Max Planck Inst Psychiat, Res Grp Neural Plast, Kraepelinstr 2-10, D-80804 Munich, Germany.
EM wotjak@mpipsykl.mpg.de
FU CNPq [290008/2009-3]; ECNP Research Grant for Young Scientists; project
'CEITEC - Central European Institute of Technology' from the European
Regional Development Fund [CZ.1.05/1.1.00/02.0068]
FX A. L. Terzian is supported by a CNPq scholarship (process
290008/2009-3), and V. Micale was supported by an ECNP Research Grant
for Young Scientists 2010 and by the project 'CEITEC - Central European
Institute of Technology' (CZ.1.05/1.1.00/02.0068) from the European
Regional Development Fund.
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NR 43
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0953-816X
EI 1460-9568
J9 EUR J NEUROSCI
JI Eur. J. Neurosci.
PD JUL
PY 2014
VL 40
IS 1
BP 2293
EP 2298
DI 10.1111/ejn.12561
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AL6QJ
UT WOS:000339257400013
PM 24698342
ER
PT J
AU Yangngam, S
Plong-On, O
Sripo, T
Roongpraiwan, R
Hansakunachai, T
Wirojanan, J
Sombuntham, T
Ruangdaraganon, N
Limprasert, P
AF Yangngam, Supaporn
Plong-On, Oradawan
Sripo, Thanya
Roongpraiwan, Rawiwan
Hansakunachai, Tippawan
Wirojanan, Juthamas
Sombuntham, Tasnawat
Ruangdaraganon, Nichara
Limprasert, Pornprot
TI Mutation Screening of the Neurexin 1 Gene in Thai Patients with
Intellectual Disability and Autism Spectrum Disorder
SO GENETIC TESTING AND MOLECULAR BIOMARKERS
LA English
DT Article
ID STRUCTURAL VARIANTS; MENTAL-RETARDATION; INDIVIDUALS; DELETIONS; NRXN1;
ADHESION; NLGN3
AB Aim: Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (alpha-NRXN1) and beta-neurexin 1 (beta-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). Methods: The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115 Thai patients with ID and ASD by direct DNA sequencing. Results: Nine novel variants of the NRXN1 gene were identified. Four novel variants were found in the beta-NRXN1 gene, one variant of six GGC repeats in exon 1, and three variants at the 5'UTR. Five novel variants were identified in the alpha-NRXN1 gene, four intronic variants and one missense variant in exon 14 (c.2713T > A or p.F905I). Conclusion: Mutation screening of the NRXN1gene in patients with ID and ASD may be useful to identify potential variants predisposing to ID and ASD. However, further studies utilizing protein functional analysis of the novel variants are required for a more definite conclusion.
C1 [Yangngam, Supaporn] Prince Songkla Univ, Fac Med, Grad Program Biomed Sci, Hat Yai 90110, Songkhla, Thailand.
[Yangngam, Supaporn] Prince Songkla Univ, Fac Med Technol, Hat Yai 90110, Songkhla, Thailand.
[Plong-On, Oradawan; Sripo, Thanya; Limprasert, Pornprot] Prince Songkla Univ, Fac Med, Div Human Genet, Dept Pathol, Hat Yai 90110, Songkhla, Thailand.
[Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand.
[Hansakunachai, Tippawan] Thammasat Univ, Dept Pediat, Fac Med, Pathum Thani, Thailand.
[Wirojanan, Juthamas] Prince Songkla Univ, Fac Med, Dept Pediat, Hat Yai 90110, Songkhla, Thailand.
RP Limprasert, P (reprint author), Prince Songkla Univ, Fac Med, Div Human Genet, Dept Pathol, Hat Yai 90110, Songkhla, Thailand.
EM lpornpro@yahoo.com
FU National Center for Genetic Engineering and Biotechnology (BIOTEC)
[BT-B-01-MG-18-4814]; Faculty of Medicine [48/364-006, 48/364-006-1,
48/364-006-2]; Prince of Songkla University [MED5202355, MED5406475]
FX This study was supported by the National Center for Genetic Engineering
and Biotechnology (BIOTEC) grant no. BT-B-01-MG-18-4814, and co-research
funding between the Faculty of Medicine (48/364-006, 48/364-006-1 and
48/364-006-2) and Prince of Songkla University (MED5202355 and
MED5406475).
CR Bena F, 2013, AM J MED GENET B, V162B, P388, DOI 10.1002/ajmg.b.32148
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Kim HG, 2008, AM J HUM GENET, V82, P199, DOI 10.1016/j.ajhg.2007.09.011
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Zweier C, 2009, AM J HUM GENET, V85, P655, DOI 10.1016/j.ajhg.2009.10.004
NR 22
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1945-0265
EI 1945-0257
J9 GENET TEST MOL BIOMA
JI Genet. Test. Mol. Biomark.
PD JUL
PY 2014
VL 18
IS 7
BP 510
EP 515
DI 10.1089/gtmb.2014.0003
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AL8MG
UT WOS:000339392600010
PM 24832020
ER
PT J
AU Chan, DFY
Chan, SHY
So, HK
Li, AM
Ng, RCM
Tsang, N
AF Chan, D. F. Y.
Chan, S. H. Y.
So, H. K.
Li, A. M.
Ng, R. C. M.
Tsang, N.
TI Dental Health of Preschool Children with Autism Spectrum Disorder in
Hong Kong
SO HONG KONG JOURNAL OF PAEDIATRICS
LA English
DT Article
DE Austism spectrum disorder; Dental health; Preschool children
ID CARIES EXPERIENCE; CARE NEEDS; PROGRAM
AB Children with autism spectrum disorder (ASD) were reported to have higher rates of unmet dental needs and behavioural problems that leading to dental care or oral hygiene problems. With the lack of dental services for preschool children in Hong Kong, the severity of dental problems in this group of children has not been documented locally. The aim of this study is to evaluate how well the preschool aged children with autism spectrum disorder comply with the recommendations from the dental profession, namely of tooth brushing habits, dental visits and rate of dental caries. Seventy percent of the 196 recruited children diagnosed with ASD with a mean age of 5.36 years from thirteen rehabilitation centres had established a twice daily tooth brushing habit at a mean age of 2.5 years. Eight-three of the children reported to have behavioural problems during toothbrushing. Thirty-six percent of these behavioural problems were unrelated to the toothbrushing procedure, including crying, screaming and other aggressive behaviour. Twenty-six percent suffered from dental caries of which 60% were reported as severe. Only 48% of them had visited dental services, the majority of these attending for dental checkups. Dental caries was significant higher in mother with low educational level and low-income families with children of ASD. Dental problems in this group of children are not a minor issue. A primary screening dental checkup service for preschool children with ASD especially in low-income families should be deeply considered in Hong Kong.
C1 [Chan, D. F. Y.; Chan, S. H. Y.; So, H. K.; Li, A. M.] Chinese Univ Hong Kong, Fac Med, Dept Paediat, Shatin, Hong Kong, Peoples R China.
[Ng, R. C. M.; Tsang, N.] Heep Hong Soc, Hong Kong, Hong Kong, Peoples R China.
RP Chan, DFY (reprint author), Chinese Univ Hong Kong, Fac Med, Dept Paediat, Shatin, Hong Kong, Peoples R China.
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
[Anonymous], 2001, OR HLTH SURV 2001 RE
Carvalho TS, 2012, BRAZ ORAL RES, V26, P557, DOI 10.1590/S1806-83242012000600012
Jaber MA, 2011, J APPL ORAL SCI, V19, P212, DOI 10.1590/S1678-77572011000300006
Jokela J, 2003, ACTA ODONTOL SCAND, V61, P110, DOI 10.1080/00016350310002450
Kogan MD, 2008, PEDIATRICS, V122, pE1149, DOI 10.1542/peds.2008-1057
Kopycka-Kedzierawski DT, 2008, PEDIATR DENT, V30, P54
Kuhaneck Heather Miller, 2012, Spec Care Dentist, V32, P229, DOI 10.1111/j.1754-4505.2012.00283.x
Lai BE, 2012, J AUTISM DEV DISORD, V42, P1294, DOI 10.1007/s10803-011-1362-2
Locker D, 2004, J PUBLIC HEALTH DENT, V64, P63, DOI 10.1111/j.1752-7325.2004.tb02729.x
Loo CY, 2008, J AM DENT ASSOC, V139, P1518
Marshall J, 2007, PEDIATR DENT, V29, P369
Morinushi Takanobu, 2001, J CLIN PEDIATR DENT, V25, P323
NCBDDD, 2012, CDC DAT STAT AUT SPE
Nelson LP, 2011, PEDIATR DENT, V33, P29
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Scottish Intercollegiate Guidelines Network (SIGN), 2005, PREV MAN DENT DEC PR
U.S. National Institutes of Health National Institute of Dental and Craniofacial Research, PRACT OR CAR PEOPL A
Wong VCN, 2008, J CHILD NEUROL, V23, P67, DOI 10.1177/0883073807308702
Woo EKF, 2007, 3 CASER
NR 20
TC 0
Z9 0
PU MEDCOM LTD
PI CHAI WAN
PA ROOM 504-5, CHEUNG TAT CENTRE, 18 CHEUNG LEE ST, CHAI WAN, HONG KONG
00000, PEOPLES R CHINA
SN 1013-9923
J9 HONG KONG J PAEDIATR
JI Hong Kong J. Paediatr.
PD JUL
PY 2014
VL 19
IS 3
BP 161
EP 168
PG 8
WC Pediatrics
SC Pediatrics
GA AL8UJ
UT WOS:000339414900004
ER
PT J
AU Yang, WZ
Zhao, YJ
AF Yang, W. Z.
Zhao, Y. J.
TI Clinical Report: A Female with Down Syndrome and Autism
SO HONG KONG JOURNAL OF PAEDIATRICS
LA English
DT Article
DE Autism; Comorbidity; Down syndrome
ID DISORDERS
AB Objective: The association of autism and Down syndrome (DS) is comparatively uncommon, especially in females. We report a female patient with both DS and autism with detailed clinical information. Methods: The diagnosis of DS based on a particular set of facial characteristics, delayed growth and chromosomal analysis. Autism Behavior Checklist and the DSM-IV criteria of autism were used for the diagnosis of autism. Case presentation: A five-year-old girl was sent to our department due to unusual social development, language delay and restricted behaviour. At 8 months, she was diagnosed to have DS with the karyotype of 47, XX, +21. Autism was diagnosed based on the behaviour and the DSM-IV criteria. On the modified ABC, the score given by her mother was 90, which further supported the diagnosis. Conclusion: With low index of suspicion, autism/autism spectrum disorders can easily be missed in patients with DS. Increase in awareness that the 2 conditions can coexist in the same patient is important to paediatricians.
C1 [Yang, W. Z.; Zhao, Y. J.] China Med Univ, Shengjing Hosp, Dept Dev Pediat, Shenyang 110004, Peoples R China.
RP Zhao, YJ (reprint author), China Med Univ, Shengjing Hosp, Dept Dev Pediat, 36 Sanhao St, Shenyang 110004, Peoples R China.
FU National Natural Science Foundation of China [81101019]
FX This study was supported by a grant from the National Natural Science
Foundation of China (no. 81101019). Special thanks to the patient and
her guardian for their support and participation.
CR Carter JC, 2007, AM J MED GENET B, V144B, P87, DOI 10.1002/ajmg.b.30407
Dykens EM, 2007, MENT RETARD DEV D R, V13, P272, DOI 10.1002/mrdd.20159
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Zhang ZX, 1996, CHIN J CLIN PSYCHOL, V4, P129
NR 8
TC 0
Z9 0
PU MEDCOM LTD
PI CHAI WAN
PA ROOM 504-5, CHEUNG TAT CENTRE, 18 CHEUNG LEE ST, CHAI WAN, HONG KONG
00000, PEOPLES R CHINA
SN 1013-9923
J9 HONG KONG J PAEDIATR
JI Hong Kong J. Paediatr.
PD JUL
PY 2014
VL 19
IS 3
BP 185
EP 187
PG 3
WC Pediatrics
SC Pediatrics
GA AL8UJ
UT WOS:000339414900008
ER
PT J
AU Fishman, I
Keown, CL
Lincoln, AJ
Pineda, JA
Muller, RA
AF Fishman, Irina
Keown, Christopher L.
Lincoln, Alan J.
Pineda, Jaime A.
Mueller, Ralph-Axel
TI Atypical Cross Talk Between Mentalizing and Mirror Neuron Networks in
Autism Spectrum Disorder
SO JAMA PSYCHIATRY
LA English
DT Article
ID INTRINSIC FUNCTIONAL CONNECTIVITY; RESTING HUMAN BRAIN; STRUCTURAL
CONNECTIVITY; ASPERGER-SYNDROME; MIND; IMITATION; CHILDREN; ACTIVATION;
MECHANISMS; DEFICITS
AB IMPORTANCE Converging evidence indicates that brain abnormalities in autism spectrum disorder (ASD) involve atypical network connectivity, but it is unclear whether altered connectivity is especially prominent in brain networks that participate in social cognition.
OBJECTIVE To investigate whether adolescents with ASD show altered functional connectivity in 2 brain networks putatively impaired in ASD and involved in social processing, theory of mind (ToM) and mirror neuron system (MNS).
DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study using resting-state functional magnetic resonance imaging involving 25 adolescents with ASD between the ages of 11 and 18 years and 25 typically developing adolescents matched for age, handedness, and nonverbal IQ.
MAIN OUTCOMES AND MEASURES Statistical parametric maps testing the degree of whole-brain functional connectivity and social functioning measures.
RESULTS Relative to typically developing controls, participants with ASD showed a mixed pattern of both over- and underconnectivity in the ToM network, which was associated with greater social impairment. Increased connectivity in the ASD group was detected primarily between the regions of the MNS and ToM, and was correlated with sociocommunicative measures, suggesting that excessive ToM-MNS cross talk might be associated with social impairment. In a secondary analysis comparing a subset of the 15 participants with ASD with the most severe symptomology and a tightly matched subset of 15 typically developing controls, participants with ASD showed exclusive overconnectivity effects in both ToM and MNS networks, which were also associated with greater social dysfunction.
CONCLUSIONS AND RELEVANCE Adolescents with ASD showed atypically increased functional connectivity involving the mentalizing and mirror neuron systems, largely reflecting greater cross talk between the 2. This finding is consistent with emerging evidence of reduced network segregation in ASD and challenges the prevailing theory of general long-distance underconnectivity in ASD. This excess ToM-MNS connectivity may reflect immature or aberrant developmental processes in 2 brain networks involved in understanding of others, a domain of impairment in ASD. Further, robust links with sociocommunicative symptoms of ASD implicate atypically increased ToM-MNS connectivity in social deficits observed in ASD.
C1 [Fishman, Irina; Keown, Christopher L.; Mueller, Ralph-Axel] San Diego State Univ, San Diego, CA 92120 USA.
[Lincoln, Alan J.] Alliant Int Univ, San Diego, CA USA.
[Pineda, Jaime A.] Univ Calif San Diego, La Jolla, CA 92093 USA.
RP Fishman, I (reprint author), San Diego State Univ, Brain Dev Imaging Lab, Dept Psychol, 6363 Alvarado Ct,Ste 200, San Diego, CA 92120 USA.
EM ifishman@mail.sdsu.edu
FU National Institutes of Health [R01 MH081023, K01 MH097972]; Autism
Science Foundation [12-1001]; Congressionally Directed Medical Research
Programs grant [AR093335]
FX This work was supported by grants from the National Institutes of Health
(grants R01 MH081023 to Dr Muller and K01 MH097972 to Dr Fishman) and
the Autism Science Foundation (grant 12-1001 to Dr Fishman). Data
acquisition in 7 participants was funded by a Congressionally Directed
Medical Research Programs grant (grant AR093335 to Dr Pineda).
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NR 72
TC 3
Z9 4
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD JUL
PY 2014
VL 71
IS 7
BP 751
EP 760
DI 10.1001/jamapsychiatry.2014.83
PG 10
WC Psychiatry
SC Psychiatry
GA AL5HU
UT WOS:000339165200005
PM 24740586
ER
PT J
AU Klitzman, R
Abbate, KJ
Chung, WK
Ottman, R
Leu, CS
Appelbaum, PS
AF Klitzman, Robert
Abbate, Kristopher J.
Chung, Wendy K.
Ottman, Ruth
Leu, Cheng-Shiun
Appelbaum, Paul S.
TI Views of Preimplantation Genetic Diagnosis Among Psychiatrists and
Neurologists
SO JOURNAL OF REPRODUCTIVE MEDICINE
LA English
DT Article
DE assisted reproductive technology; doctor-patient communication; ethics;
eugenics; gender selection; obstetrics/gynecology; preimplantation
genetic diagnosis; prenatal genetic testing
ID ATTITUDES; PHYSICIANS; RATES; CHINA; PGD
AB OBJECTIVE: To examine key aspects of neurologists' and psychiatrists' views and approaches regarding prenatal genetic testing (GT) and preimplantation genetic diagnosis (PGD).
STUDY DESIGN: We surveyed attitudes and practices among 163 neurologists and 372 psychiatrists.
RESULTS: A total of 24.9% of neurologists and 31.9% of psychiatrists had discussed prenatal GT with patients, but 95.3% did not feel comfortable discussing PGD; only 2.9% discussed it, and only 1.8% had patients ask about PGD. Most would refer for PGD for Huntington's disease and Tay-Sachs disease, fewer for cystic fibrosis, and fewer still for autism, Alzheimer's disease, or gender selection for family balancing; in each of these cases, psychiatrists' percentages were higher than those of neurologists. Providers who would refer for PGD for Huntington's disease, cystic fibrosis, or gender selection differed from others in proportions of patients with insurance and were more likely to have undergone a GT themselves and be concerned about discrimination.
CONCLUSION: These data, the first to examine how neurologists and psychiatrists view PGD, suggest that they do not feel comfortable discussing PGD but have strong views about its use. Potential PGD use is associated with concerns about discrimination and less experience with GT. These data highlight the need for enhancing education about these technologies among various providers.
C1 Columbia Univ, Med Ctr, Dept Clin Psychiat, New York, NY 10032 USA.
Columbia Univ, Med Ctr, Dept Epidemiol, New York, NY 10032 USA.
Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
Columbia Univ, Med Ctr, HIV Ctr Clin & Behav Studies, New York, NY 10032 USA.
New York State Psychiat Inst & Hosp, Gertrude H Sergievsky Ctr, New York, NY 10032 USA.
New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA.
RP Klitzman, R (reprint author), Columbia Univ, Dept Clin Psychiat, 1051 Riverside Dr,Unit 15, New York, NY 10032 USA.
EM rlk2@columbia.edu
RI Ottman, Ruth/O-2371-2013
FU National Human Genome Research Institute [1P20HG005535-01,
1P50HG007257-01]
FX This work was supported by National Human Genome Research Institute
grants #1P20HG005535-01 and #1P50HG007257-01 (Paul Appelbaum, Principal
Investigator).
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NR 21
TC 0
Z9 0
PU SCI PRINTERS & PUBL INC
PI ST LOUIS
PA PO DRAWER 12425 8342 OLIVE BLVD, ST LOUIS, MO 63132 USA
SN 0024-7758
EI 1943-3565
J9 J REPROD MED
JI J. Reprod. Med.
PD JUL-AUG
PY 2014
VL 59
IS 7-8
BP 385
EP 392
PG 8
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AL8UG
UT WOS:000339414600008
PM 25098029
ER
PT J
AU Wolff, ER
Madlon-Kay, DJ
AF Wolff, Emily R.
Madlon-Kay, Diane J.
TI Childhood Vaccine Beliefs Reported by Somali and Non-Somali Parents
SO JOURNAL OF THE AMERICAN BOARD OF FAMILY MEDICINE
LA English
DT Article
DE Autism; Measles; Somalia; Vaccination; Immunization
ID MEASLES
AB Background: In 2011, an outbreak of measles in Minnesota was traced back to an unvaccinated Somali child. The purpose of this project was to (1) ascertain whether Somali parents are more likely than non-Somalis to refuse childhood vaccinations, particularly the measles-mumps-rubella (MMR) vaccine and (2) determine what factors influence the decision not to vaccinate.
Methods: We explored parental perceptions and utilization of vaccines through a survey distributed to a convenience sample of Somali and non-Somali parents of children <= 5 years old in a family medicine clinic in Minneapolis, MN.
Results: A total of 99 surveys were completed, 28% (n = 27) by Somali parents. Somali parents were more likely than non-Somali parents to have refused the MMR vaccine for their child (odds ratio, 4.6; 95% confidence interval, 1.2-18.0). Most of them refused vaccines because they had heard of adverse effects associated with the vaccine or personally knew someone who suffered an adverse effect. Somali parents were significantly more likely to believe that autism is caused by vaccines (35% vs. 8% of non-Somali parents). Somalis were also more likely to be uncomfortable with administering multiple vaccines at one visit (odds ratio, 4.0; 95% confidence interval, 1.4-11.9) and more likely to believe that children receive too many vaccines.
Conclusions: Statistically significant differences in perceptions and use of vaccines were reported by Somali and non-Somali participants. Somali parents are more likely to believe that the MMR vaccine causes autism and more likely to refuse the MMR vaccine than non-Somali parents. These beliefs have contributed to an immunization gap between Somali and non-Somali children.
C1 [Madlon-Kay, Diane J.] Univ Minnesota, Dept Family Med & Community Hlth, Sch Med, Minneapolis, MN 55455 USA.
RP Wolff, ER (reprint author), Univ Minnesota, Med Sch Twin Cities, 420 Delaware St SE, Minneapolis, MN 55455 USA.
EM smit6761@umn.edu
FU David Mercy Summer Externship Program of the Minnesota Academy of Family
Physicians Foundation; Minnesota Academy of Family Physicians; American
Academy of Family Physicians
FX Funding: The study was funded by the David Mercy Summer Externship
Program of the Minnesota Academy of Family Physicians Foundation, The
Minnesota Academy of Family Physicians, and the American Academy of
Family Physicians.
CR Lynfield R., 2011, Morbidity and Mortality Weekly Report, V60, P421
McLean Huong, 2012, Morbidity and Mortality Weekly Report, V61, P253
Hewitt A, 2013, MINNEAPOLIS SOMALI A
Kennedy A, 2011, PEDIATRICS, V127, pS92, DOI 10.1542/peds.2010-1722N
Kulane A, 2007, SOMALI PARENTS ACCEP
Minnesota Department of Health, AUT SOM COMM REP STU
Poland GA, 2011, MAYO CLIN PROC, V86, P869, DOI 10.4065/mcp.2011.0467
Rubin R, 2011, WHATS LATEST MEASLES
Sabella C, 2010, CLEV CLIN J MED, V77, P207, DOI 10.3949/ccjm.77a.09123
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NR 10
TC 1
Z9 1
PU AMER BOARD FAMILY MEDICINE
PI LEXINGTON
PA 2228 YOUNG DR, LEXINGTON, KY 40505 USA
SN 1557-2625
EI 1558-7118
J9 J AM BOARD FAM MED
JI J. Am. Board Fam. Med.
PD JUL-AUG
PY 2014
VL 27
IS 4
BP 458
EP 464
DI 10.3122/jabfm.2014.04.130275
PG 7
WC Primary Health Care; Medicine, General & Internal
SC General & Internal Medicine
GA AL5IS
UT WOS:000339167800009
PM 25002000
ER
PT J
AU Varella, AAB
de Souza, DG
AF Varella, Andre A. B.
de Souza, Deisy G.
TI EMERGENCE OF AUDITORY-VISUAL RELATIONS FROM A VISUAL-VISUAL BASELINE
WITH AUDITORY-SPECIFIC CONSEQUENCES IN INDIVIDUALS WITH AUTISM
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE equivalence relations; outcome specific reinforcement; conditional
discrimination; auditory-visual discrimination; autism
ID MATCHING-TO-SAMPLE; STIMULUS-REINFORCER RELATIONS;
EQUIVALENCE-RELATIONS; CONDITIONAL DISCRIMINATION; DIFFERENTIAL
OUTCOMES; TRAINING PROCEDURE; SYMBOLIC BEHAVIOR; CLASS MEMBERSHIP;
CHILDREN; ADULTS
AB Empirical studies have demonstrated that class-specific contingencies may engender stimulus-reinforcer relations. In these studies, crossmodal relations emerged when crossmodal relations comprised the baseline, and intramodal relations emerged when intramodal relations were taught during baseline. This study investigated whether auditory-visual relations (crossmodal) would emerge after participants learned a visual-visual baseline (intramodal) with auditory stimuli presented as specific consequences. Four individuals with autism learned AB and CD relations with class-specific reinforcers. When A1 and C1 were presented as samples, the selections of B1 and D1, respectively, were followed by an edible (R1) and a sound (S1). Selections of B2 and D2 under the control of A2 and C2, respectively, were followed by R2 and S2. Probe trials tested for visual-visual AC, CA, AD, DA, BC, CB, BD, and DB emergent relations and auditory-visual SA, SB, SC, and SD emergent relations. All of the participants demonstrated the emergence of all auditory-visual relations, and three of four participants showed emergence of all visual-visual relations. Thus, the emergence of auditory-visual relations from specific auditory consequences suggests that these relations do not depend on crossmodal baseline training. The procedure has great potential for applied technology to generate auditory-visual discriminations and stimulus classes in the context of behavior-analytic interventions for autism.
C1 [Varella, Andre A. B.; de Souza, Deisy G.] Univ Fed Sao Carlos, BR-13565905 Sao Carlos, SP, Brazil.
RP Varella, AAB (reprint author), Univ Fed Sao Carlos, Lab Estudos Comportamento Humano, Rodovia Washington Luis,Km 235, BR-13565905 Sao Carlos, SP, Brazil.
EM andreavarella@gmail.com; ddgs@ufscar.br
FU Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
[2009/011-003]; CNPq [573972/2008-7]; FAPESP [08/57705-8]
FX This research was supported by Fundacao de Amparo a Pesquisa do Estado
de Sao Paulo (FAPESP; Doctoral scholarship #2009/011-003 to the first
author). This report is based on a doctoral dissertation submitted by
the first author to the Graduate Program in Psychology, Universidade
Federal de Sao Carlos. The study was part of the research program of
Instituto Nacional de Ciencia e Tecnologia sobre Comportamento, Cognicao
e Ensino, supported by grants from CNPq (Grant # 573972/2008-7) and
FAPESP (Grant # 08/57705-8).
CR Barros R. S., 2006, BRAZILIAN J BEHAV AN, V2, P79
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NR 48
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0022-5002
EI 1938-3711
J9 J EXP ANAL BEHAV
JI J. Exp. Anal. Behav.
PD JUL
PY 2014
VL 102
IS 1
BP 139
EP 149
DI 10.1002/jeab.93
PG 11
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA AL5GU
UT WOS:000339162500008
PM 24965883
ER
PT J
AU Serret, S
Hun, S
Iakimova, G
Lozada, J
Anastassova, M
Santos, A
Vesperini, S
Askenazy, F
AF Serret, Sylvie
Hun, Stephanie
Iakimova, Galina
Lozada, Jose
Anastassova, Margarita
Santos, Andreia
Vesperini, Stephanie
Askenazy, Florence
TI Facing the challenge of teaching emotions to individuals with low- and
high-functioning autism using a new Serious game: a pilot study
SO MOLECULAR AUTISM
LA English
DT Article
DE Serious game; High-functioning Autism; Low-functioning Autism; Social
Skills Training; Emotion Recognition; Computer-based Intervention
ID SPECTRUM DISORDERS; ASPERGER-SYNDROME; VIRTUAL-REALITY; CHILDREN;
RECOGNITION; FACES; SKILLS; CHILDHOOD; INTERVENTION; EXPRESSIONS
AB Background: It is widely accepted that emotion processing difficulties are involved in Autism Spectrum Conditions (ASC). An increasing number of studies have focused on the development of training programs and have shown promising results. However, most of these programs are appropriate for individuals with high-functioning ASC (HFA) but exclude individuals with low-functioning ASC (LFA). We have developed a computer-based game called JeStiMulE based on logical skills to teach emotions to individuals with ASC, independently of their age, intellectual, verbal and academic level.
The aim of the present study was to verify the usability of JeStiMulE (which is its adaptability, effectiveness and efficiency) on a heterogeneous ASC group. We hypothesized that after JeStiMulE training, a performance improvement would be found in emotion recognition tasks.
Methods: A heterogeneous group of thirty-three children and adolescents with ASC received two one-hour JeStiMulE sessions per week over four weeks. In order to verify the usability of JeStiMulE, game data were collected for each participant. Furthermore, all participants were presented before and after training with five emotion recognition tasks, two including pictures of game avatars (faces and gestures) and three including pictures of real-life characters (faces, gestures and social scenes).
Results: Descriptive data showed suitable adaptability, effectiveness and efficiency of JeStiMulE. Results revealed a significant main effect of Session on avatars (ANOVA: F (1,32) = 98.48, P < .001) and on pictures of real-life characters (ANOVA: F (1,32) = 49.09, P < .001). A significant Session x Task x Emotion interaction was also found for avatars (ANOVA: F (6,192) = 2.84, P = .01). This triple interaction was close to significance for pictures of real-life characters (ANOVA: F (12,384) = 1.73, P = .057). Post-hoc analyses revealed that 30 out of 35 conditions found a significant increase after training.
Conclusions: JeStiMulE appears to be a promising tool to teach emotion recognition not only to individuals with HFA but also those with LFA. JeStiMulE is thus based on ASC-specific skills, offering a model of logical processing of social information to compensate for difficulties with intuitive social processing.
C1 [Serret, Sylvie; Hun, Stephanie; Santos, Andreia; Vesperini, Stephanie] Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Autism Resources Ctr, Nice, France.
[Iakimova, Galina] Univ Nice Sophia Antipolis, Anthropol & Cognit & Social Psychol Res Unit, LAPCOS, EA 7278, F-06189 Nice, France.
[Lozada, Jose; Anastassova, Margarita] CEA LIST DIASI, Sensory & Ambient Interfaces Lab, Fontenay Aux Roses, France.
[Askenazy, Florence] Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Nice, France.
RP Serret, S (reprint author), Univ Hosp CHU Lenval, Child & Adolescent Psychiat Dept, Autism Resources Ctr, Nice, France.
EM serret.s@pediatrie-chulenval-nice.fr
FU Monaco Against Autism (MONAA); ABA Apprendre Autrement; Collectif
Handicap 06; CoBteK (Cognitive Behaviour Technology); French Ministry of
Industry
FX We are grateful to all children, adolescents and their families for
their participation in this study. We also thank our partners (Idees3
com, HLP Technologies, Autism Resources Center Nice, Day-care Units for
children and adolescents with autism ('La Caravelle', 'Les Coteaux
d'Azur' and 'Les Noisetiers') for their participation in this study.
Written informed consent was obtained from all participants and their
families. The consent form is held by the corresponding author and is
available for review by the Editor-in-Chief. We also acknowledge the
following associations for their support: Monaco Against Autism (MONAA),
ABA Apprendre Autrement, Collectif Handicap 06. We acknowledge the
support provided by CoBteK (Cognitive Behaviour Technology). The study
promoter was the Nice University Hospital (CHUN). The project was funded
by the French Ministry of Industry. The funding body had no role in the
study design, data collection, analyses, and data
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NR 68
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JUL 1
PY 2014
VL 5
AR 37
DI 10.1186/2040-2392-5-37
PG 17
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AL4AQ
UT WOS:000339075500001
PM 25018866
ER
PT J
AU Becerra, TA
von Ehrenstein, OS
Heck, JE
Olsen, J
Arah, OA
Jeste, SS
Rodriguez, M
Ritz, B
AF Becerra, Tracy A.
von Ehrenstein, Ondine S.
Heck, Julia E.
Olsen, Jorn
Arah, Onyebuchi A.
Jeste, Shafali S.
Rodriguez, Michael
Ritz, Beate
TI Autism Spectrum Disorders and Race, Ethnicity, and Nativity: A
Population-Based Study
SO PEDIATRICS
LA English
DT Article
DE autistic disorder; emigration and immigration; epidemiology; continental
population groups
ID DIAGNOSTIC OBSERVATION SCHEDULE; FOLIC ACID SUPPLEMENTATION; AMBIENT
AIR-POLLUTION; NON-HISPANIC WHITE; COUNTRY-OF-ORIGIN; LOW-BIRTH-WEIGHT;
UNITED-STATES; RISK-FACTORS; VITAMIN-D; REPRODUCTIVE AGE
AB OBJECTIVE: Our understanding of the influence of maternal race/ethnicity and nativity and childhood autistic disorder (AD) in African Americans/blacks, Asians, and Hispanics in the United States is limited. Phenotypic differences in the presentation of childhood AD in minority groups may indicate etiologic heterogeneity or different thresholds for diagnosis. We investigated whether the risk of developing AD and AD phenotypes differed according to maternal race/ethnicity and nativity.
METHODS: Children born in Los Angeles County with a primary AD diagnosis at ages 3 to 5 years during 1998-2009 were identified and linked to 1995-2006 California birth certificates (7540 children with AD from a cohort of 1 626 354 births). We identified a subgroup of children with AD and a secondary diagnosis of mental retardation and investigated heterogeneity in language and behavior.
RESULTS: We found increased risks of being diagnosed with AD overall and specifically with comorbid mental retardation in children of foreign-born mothers who were black, Central/South American, Filipino, and Vietnamese, as well as among US-born Hispanic and African American/black mothers, compared with US-born whites. Children of US African American/black and foreign-born black, foreign-born Central/South American, and US-born Hispanic mothers were at higher risk of exhibiting an AD phenotype with both severe emotional outbursts and impaired expressive language than children of US-born whites.
CONCLUSIONS: Maternal race/ethnicity and nativity are associated with offspring's AD diagnosis and severity. Future studies need to examine factors related to nativity and migration that may play a role in the etiology as well as identification and diagnosis of AD in children.
C1 [Becerra, Tracy A.; Heck, Julia E.; Olsen, Jorn; Arah, Onyebuchi A.; Ritz, Beate] Univ Calif Los Angeles, Dept Epidemiol, Fielding Sch Publ Hlth, Los Angeles, CA USA.
[von Ehrenstein, Ondine S.] Univ Calif Los Angeles, Dept Community Hlth Sci, Fielding Sch Publ Hlth, Los Angeles, CA USA.
[Jeste, Shafali S.] Univ Calif Los Angeles, Dept Psychiat & Behav Sci, Los Angeles, CA USA.
[Rodriguez, Michael] Univ Calif Los Angeles, Dept Family Med, Los Angeles, CA USA.
RP Ritz, B (reprint author), Fielding Sch Publ Hlth, Dept Epidemiol, Box 951772,650 Charles E Young Dr, Los Angeles, CA 90095 USA.
EM britz@ucla.edu
RI Heck, Julia/B-5230-2009; Ritz, Beate/E-3043-2015
FU University of California Los Angeles (UCLA) Graduate Division;
California Center for Population Research, UCLA - Eunice Kennedy Shriver
National Institute of Child Health and Human Development [R24HD041022];
NIEHS of the National Institutes of Health [R21ES022389]; National
Institutes of Health (NIH)
FX FUNDING: This research was sponsored by the University of California Los
Angeles (UCLA) Graduate Division, the California Center for Population
Research, UCLA, supported by infrastructure grant R24HD041022 from the
Eunice Kennedy Shriver National Institute of Child Health and Human
Development and by NIEHS of the National Institutes of Health under
award number R21ES022389. Funded by the National Institutes of Health
(NIH).
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NR 74
TC 2
Z9 2
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD JUL
PY 2014
VL 134
IS 1
BP E63
EP E71
DI 10.1542/peds.2013-3928
PG 9
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800009
PM 24958588
ER
PT J
AU Kasari, C
Lawton, K
Shih, W
Barker, TV
Landa, R
Lord, C
Orlich, F
King, B
Wetherby, A
Senturk, D
AF Kasari, Connie
Lawton, Kathy
Shih, Wendy
Barker, Tyson V.
Landa, Rebecca
Lord, Catherine
Orlich, Felice
King, Bryan
Wetherby, Amy
Senturk, Damla
TI Caregiver-Mediated Intervention for Low-Resourced Preschoolers With
Autism: An RCT
SO PEDIATRICS
LA English
DT Article
DE autism; early intervention; parent-child interactions; joint attention
ID RANDOMIZED CONTROLLED-TRIAL; JOINT ATTENTION; SPECTRUM DISORDER;
CHILDREN; PLAY; TODDLERS; ENGAGEMENT; DIAGNOSIS; MODEL
AB OBJECTIVES: To compare 2 short-term, community caregiver training interventions for preschool-aged children with Autism Spectrum Disorder who had low resources. Low resource was defined by the US Department of Housing and Urban Development low-income index or 1 "indicator," (eg, Medicaid eligibility). Child outcomes focused on joint engagement, joint attention, and play.
METHODS: Participants included 112 families of a child who had Autism Spectrum Disorder who met criteria for being low-resourced and who were randomly assigned to 1 of 2 3-month interventions, group caregiver education or individualized caregiver-mediated intervention (CMM). Children were assessed for social communication skills pre- and post-treatment, and followed up at 3 months.
RESULTS: All children improved in joint engagement and initiating joint attention, with significantly greater improvement by the CMM group. Outcomes on play skills were mixed, with improvement of symbolic play for the CMM group and no change in functional play skills. Joint engagement maintained over time for the CMM group, and initiating joint attention maintained for both groups over time.
CONCLUSIONS: This study is among the first randomized trials comparing 2 active interventions with a large sample of low-resourced families. Results suggest improvements in core autism deficits of joint engagement, joint attention, and symbolic play with relatively brief, caregiver-mediated interventions, but additional support is necessary to maintain and generalize these gains over time.
C1 [Kasari, Connie; Shih, Wendy; Senturk, Damla] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Kasari, Connie] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90024 USA.
[Lawton, Kathy] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA.
[Lawton, Kathy] Ohio State Univ, Dept Special Educ, Columbus, OH 43210 USA.
[Barker, Tyson V.] Univ Maryland, Dept Human Dev & Quantitat Methodol, College Pk, MD 20742 USA.
[Landa, Rebecca] Kennedy Krieger Inst, Baltimore, MD USA.
[Lord, Catherine] Weill Cornell Med Ctr, New York, NY USA.
[Orlich, Felice; King, Bryan] Childrens Hosp Seattle, Seattle, WA USA.
[Wetherby, Amy] Florida State Univ, Dept Clin Sci, Tallahassee, FL 32306 USA.
RP Kasari, C (reprint author), Univ Calif Los Angeles, Semel Inst 68 268, Los Angeles, CA 90024 USA.
EM ckasari@mednet.ucla.edu
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services [UA3 MC 11055
AIR-B]
FX All phases of this study were supported by grant UA3 MC 11055 AIR-B from
the Maternal and Child Health Research Program, Maternal and Child
Health Bureau (Combating Autism Act Initiative), Health Resources and
Services Administration, Department of Health and Human Services.
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NR 28
TC 3
Z9 3
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD JUL
PY 2014
VL 134
IS 1
BP E72
EP E79
DI 10.1542/peds.2013-3229
PG 8
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800010
PM 24958585
ER
PT J
AU Sorrell, J
Salvaggio, H
Garg, A
Guo, LL
Duck, SC
Paller, AS
AF Sorrell, Jennifer
Salvaggio, Heather
Garg, Abhimanyu
Guo, Lulu
Duck, Stephen C.
Paller, Amy S.
TI Eruptive Xanthomas Masquerading as Molluscum Contagiosum
SO PEDIATRICS
LA English
DT Article
DE behavior eating; BMI; dermatology; autism
ID HYPERTRIGLYCERIDEMIA SECONDARY; HYPOTHYROIDISM; INSULIN
AB Eruptive xanthomas are cutaneous manifestations of hyperlipidemias in which lipids accumulate in large foam cells within the skin. They classically present as crops of 1-to 4-mm yellow-orange papules and are often associated with extreme hypertriglyceridemia. We describe a 12-year-old boy with autism who was thought to have widespread molluscum contagiosum for a year before dermatologic consultation was obtained. Recognition of eruptive xanthomas led to the discovery of massive hypertriglyceridemia (serum triglycerides 6853 mg/dL) and diabetes mellitus. Through medical intervention, including insulin and fenofibrate therapy, and dietary modification with weight loss, the xanthomas cleared during the subsequent months, and his serum triglyceride levels nearly normalized.
C1 [Sorrell, Jennifer; Salvaggio, Heather; Guo, Lulu; Paller, Amy S.] Northwestern Univ, Feinberg Sch Med, Dept Dermatol, Chicago, IL 60611 USA.
[Sorrell, Jennifer; Salvaggio, Heather; Guo, Lulu; Paller, Amy S.] Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL 60611 USA.
[Garg, Abhimanyu] Univ Texas SW Med Ctr Dallas, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA.
[Duck, Stephen C.] Univ Chicago, Sch Med, Dept Pediat, Chicago, IL 60637 USA.
RP Paller, AS (reprint author), Northwestern Univ, Sch Med, Dept Dermatol, 676 North St Clair St,Suite 1600, Chicago, IL 60611 USA.
EM apaller@northwestern.edu
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PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD JUL
PY 2014
VL 134
IS 1
BP E257
EP E260
DI 10.1542/peds.2013-2108
PG 4
WC Pediatrics
SC Pediatrics
GA AK9UZ
UT WOS:000338774800031
PM 24918225
ER
PT J
AU Bekhet, AK
AF Bekhet, Abir K.
TI Self-Assessed Health in Caregivers of Persons With Autism Spectrum
Disorder: Associations With Depressive Symptoms, Positive Cognitions,
Resourcefulness, and Well-Being
SO PERSPECTIVES IN PSYCHIATRIC CARE
LA English
DT Article
DE Depressive symptoms; positive cognitions; resourcefulness; self-assessed
health
ID RELOCATION ADJUSTMENT; STRESS PROLIFERATION; PARENTING STRESS; CHILDREN;
MOTHERS; ADOLESCENTS; ASD; TODDLERS; OPTIMISM; ELDERS
AB PURPOSE: Caregiving for children with autism spectrum disorder (ASD) can affect family caregivers' self-assessed health. The purpose of this study was to determine whether depressive symptoms, positive cognitions, resourcefulness, and well-being will differ significantly among those who rated their health as fair, good, or excellent.
DESIGN AND METHODS: This study is a secondary analysis of 109 ASD caregivers who were recruited from the Interactive ASD Network.
FINDINGS: Depression was significantly lower among those who rated their health as excellent than among those who rated their health as fair. Positive cognitions, resourcefulness, and well-being were significantly higher among those who rated their health as excellent than among those who rated their health as fair.
PRACTICE IMPLICATIONS: Interventions to enhance caregivers' positive cognitions, resourcefulness, and well-being are recommended.
C1 Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
RP Bekhet, AK (reprint author), Marquette Univ, Coll Nursing, Milwaukee, WI 53233 USA.
EM abir.bekhet@marquette.edu
FU Way Klinger Young Scholar Award
FX The parent study is funded by the Way Klinger Young Scholar Award
awarded to Dr. Abir Bekhet. The author acknowledges the editorial
assistance of Elizabeth M. Tornquist (University of North Carolina at
Chapel Hill).
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NR 51
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0031-5990
EI 1744-6163
J9 PERSPECT PSYCHIATR C
JI Perspect. Psychiatr. Care
PD JUL
PY 2014
VL 50
IS 3
BP 210
EP 217
DI 10.1111/ppc.12046
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AL6WT
UT WOS:000339274900009
PM 24206628
ER
PT J
AU Horiuchi, F
Oka, Y
Uno, H
Kawabe, K
Okada, F
Saito, I
Tanigawa, T
Ueno, S
AF Horiuchi, Fumie
Oka, Yasunori
Uno, Hiroyuki
Kawabe, Kentaro
Okada, Fumi
Saito, Isao
Tanigawa, Takeshi
Ueno, Shu-ichi
TI Age- and sex-related emotional and behavioral problems in children with
autism spectrum disorders: Comparison with control children
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE autism spectrum disorders; emotional and behavioral problems; Strengths
and Difficulties Questionnaire
ID DIFFICULTIES QUESTIONNAIRE; MENTAL-HEALTH; PREVALENCE; ADOLESCENTS;
STRENGTHS; BRITAIN; RATES; RISK; SDQ
AB Aim: Children with autism spectrum disorders (ASD) often present with emotional and behavioral problems, which could change the clinical course, especially during childhood, and affect future quality of life. The aim of this study was to clarify the age- and sex-related differences of these problems in ASD.
Methods: The study subjects were 173 patients with ASD (age: 4-16 years) and 173 age-and sex-matched community children (control group). The parent version of the Strengths and Difficulties Questionnaire was used for comparison of the emotional and behavioral problems between the two groups.
Results: The Strengths and Difficulties Questionnaire scores were significantly higher in children with ASD than controls at all ages. The score of total difficulties was significantly higher in girls with ASD than in boys, while the score in male controls was significantly higher than in female controls. Age-related differences in emotional and behavioral problems were observed both in children with ASD and controls, but the characteristics were different: in children with ASD, emotional symptoms and peer problems in both sexes and conduct problems in girls increased significantly with age, while none of the problems in the controls changed with age except for a decrease in the score of hyperactivity/inattention developmentally in both sexes. Prosocial behaviors of children with ASD and controls showed small changes with age.
Conclusion: Emotional and behavioral problems are common in children with ASD and showed age-and sex-related differences. Our study emphasizes the importance of recognizing those differences among children with ASD for early intervention.
C1 [Horiuchi, Fumie; Kawabe, Kentaro; Okada, Fumi; Ueno, Shu-ichi] Ehime Univ, Grad Sch Med, Dept Neuropsychiat & Neurosci, Toon, Japan.
[Saito, Isao; Tanigawa, Takeshi] Ehime Univ, Grad Sch Med, Dept Publ Hlth, Toon City, Ehime 7910295, Japan.
[Saito, Isao] Ehime Univ, Grad Sch Med, Dept Basic Nursing & Hlth Sci, Toon City, Ehime 7910295, Japan.
[Oka, Yasunori] Ehime Univ, Grad Sch Med, Ctr Sleep Med, Toon City, Ehime 7910295, Japan.
[Uno, Hiroyuki] Hyogo Univ Teachers Educ, Dept Educ Disabled Children, Nagoya, Aichi, Japan.
[Okada, Fumi] Nagoya Univ, Ctr Dev Clin Psychol & Psychiat, Nagoya, Aichi 4648601, Japan.
RP Horiuchi, F (reprint author), Ehime Univ, Grad Sch Med, Dept Neuropsychiat & Neurosci, Toon City, Ehime 7910295, Japan.
EM matsufu@m.ehime-u.ac.jp
CR Allen CW, 2007, J AUTISM DEV DISORD, V37, P1272, DOI 10.1007/s10803-006-0279-7
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7
Centers for Disease Control Prevention, 2007, MMWR-MORBID MORTAL W, V9, P12
Constantino JN, 2005, SOCIAL RESPONSIVENES
de Bruin EI, 2007, J AUTISM DEV DISORD, V37, P877, DOI 10.1007/s10803-006-0215-x
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youthinmind, 1997, SDQ INF RES PROF STR
NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1323-1316
EI 1440-1819
J9 PSYCHIAT CLIN NEUROS
JI Psychiatry Clin. Neurosci.
PD JUL
PY 2014
VL 68
IS 7
BP 542
EP 550
DI 10.1111/pcn.12164
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AL4PB
UT WOS:000339113800007
PM 24447342
ER
PT J
AU Jain, A
Spencer, D
Yang, WY
Kelly, JP
Newschaffer, CJ
Johnson, J
Marshall, J
Azocar, F
Tabb, LP
Dennen, T
AF Jain, Anjali
Spencer, Donna
Yang, Wenya
Kelly, Jonathan P.
Newschaffer, Craig J.
Johnson, Jonathan
Marshall, Jaclyn
Azocar, Francisca
Tabb, Loni Philip
Dennen, Taylor
TI Injuries Among Children With Autism Spectrum Disorder
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE administrative claims; autism spectrum disorder; child injury;
commercial insurance
ID DEVELOPMENTAL-DISABILITIES; UNINTENTIONAL INJURY; UNITED-STATES; US
CHILDREN; RISK; ADOLESCENTS; INTERVALS; RATES; AGE
AB OBJECTIVE: We compared risk of injury among children with autism spectrum. disorder (ASD) to those without ASD, adjusting for demographic and clinical characteristics.
METHODS: We used claims data from 2001 to 2009 from a commercial health plan in the United States. A validated ASD case identification algorithm identified 33,565 children (ages 0-20 years) with ASD and 138,876 children without. Counting process models tested the association between ASD status and injury episodes with separate regressions run for children during different age periods.
RESULTS: Unadjusted results demonstrated that children with ASD had a 12% greater injury risk than children without ASD (hazard ratio [HR] = 1.119; P < .001). After including demographic variables, the HR was 1.03 (P < .05); after controlling for co-occurring conditions, such as seizures, depression, etc, HR decreased to 0.889 (P < .001). For the age period analysis, HR values were as follows: for 0 to 2 years, HR 1.141; 3 to 5 years, HR 1.282; 6 to 10 years, HR not significant; and 11 to 20 years, HR 0.634 (P < .05 for all significant results).
CONCLUSIONS: Children with ASD have more injuries than children without ASD. After controlling for demographic factors and co-occurring conditions, children with ASD are at lower risk of injury, suggesting that co-occurring conditions or the ways these conditions interact with ASD is related to injuries. Clinicians should understand that injury risk in children with ASD may be driven by co-occurring conditions. Treating these conditions could thus decrease injury risk as well as have other benefits. Injury prevention interventions are especially warranted for younger children with ASD and those with seizures, depression, visual impairment, or attention-deficit disorders.
C1 [Jain, Anjali; Yang, Wenya; Kelly, Jonathan P.; Marshall, Jaclyn; Dennen, Taylor] Lewin Grp, Falls Church, VA 22042 USA.
[Spencer, Donna; Johnson, Jonathan] OptumInsight Life Sci, Eden Prairie, MN USA.
[Newschaffer, Craig J.; Tabb, Loni Philip] Drexel Univ, Sch Publ Hlth, Philadelphia, PA 19104 USA.
[Azocar, Francisca] OptumHlth Behav Solut, San Francisco, CA USA.
RP Jain, A (reprint author), Lewin Grp, 3130 Fairview Pk Dr,Suite 500, Falls Church, VA 22042 USA.
EM anjali.jain@lewin.com
FU National Institute of Mental Health (NIMH), National Institutes of
Health, Department of Health and Human Services [HHSN-271-2010-00033-C]
FX This project was funded by the National Institute of Mental Health
(NIMH), National Institutes of Health, Department of Health and Human
Services, under contract HHSN-271-2010-00033-C. The authors acknowledge
the following for their contributions: Brady Post and Corey Lipow of the
Lewin Group; James Burke, Jeffrey McPheeters, Thomas Horstman, and Felix
Cao of OptumInsight; and Lindsey Lawer of Drexel University.
CR Agran PF, 2001, PEDIATRICS, V108, part. no., DOI 10.1542/peds.108.3.e45
Agran PF, 2003, PEDIATRICS, V111, pE683, DOI 10.1542/peds.111.6.e683
Anderson C, 2012, PEDIATRICS, V130, P870, DOI 10.1542/peds.2012-0762
Brenner RA, 2013, INT J INJ CONTROL SA, V20, P259, DOI 10.1080/17457300.2012.696662
Burke JP, 2014, AUTISM, V18, P321, DOI 10.1177/1362361312467709
Centers for Disease Control and Prevention, PROT ON YOU LOV CHIL
Centers for Disease Control and Prevention, PATT UN INJ 0 19 YEA
Gilchrist Julie, 2012, Morbidity and Mortality Weekly Report, V61, P270
Duerden EG, 2012, J AUTISM DEV DISORD, V42, P2460, DOI 10.1007/s10803-012-1497-9
Guo Z, 2008, METHOD INFORM MED, V47, P107, DOI 10.3414/ME0478
Huang P, 2012, J DEV BEHAV PEDIATR, V33, P70, DOI 10.1097/DBP.0b013e31823a43b7
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NR 21
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 390
EP 397
PG 8
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200012
PM 24976351
ER
PT J
AU Zuckerman, KE
Lindly, OJ
Bethell, CD
Kuhlthau, K
AF Zuckerman, Katharine E.
Lindly, Olivia J.
Bethell, Christina D.
Kuhlthau, Karen
TI Family Impacts Among Children With Autism Spectrum Disorder: The Role of
Health Care Quality
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; children with special health care needs;
delivery of health care; integrated; disabled children; family burden;
family health; financial burden; quality of health care
ID FINANCIAL BURDEN; NATIONAL-SURVEY; AGED CHILDREN; UNITED-STATES; MEDICAL
HOME; NEEDS; EMPLOYMENT; INSURANCE; SERVICES; DISABILITIES
AB OBJECTIVE: To compare health care quality and family employment and financial impacts among children with special health care needs (CSHCN) with autism spectrum disorder (CSHCN + ASD), CSHCN with functional limitations (CSHCN + FL), and CSHCN lacking these conditions (other CSHCN); to test whether high health care quality was associated with reduced family impacts among CSHCN + ASD.
METHODS: Data from the 2009-2010 National Survey of CSHCN were used to compare 3025 CSHCN + ASD, 6505 CSHCN + FL, and 28,296 other CSHCN. Weighted multivariate logistic regression analyses examined 6 age-relevant, federally defined health care quality indicators and 5 family financial and employment impact indicators. Two composite measures were additionally used: I) receipt of care that met all age-relevant quality indicators; and 2) had of the 5 adverse family impacts.
RESULTS: Across all health care quality indicators, CSHCN + ASD fared poorly, with only 7.4% meeting all age-relevant indicators. CSHCN + ASD had worse health care quality than other CSHCN, including CSHCN + FL. CSHCN + ASD also had high rates of adverse family impact, with over half experiencing adverse impacts. Rates of adverse family impact were higher in CSHCN + ASD than other CSHCN, including CSHCN + FL. Among CSHCN + ASD, those whose health care that met federal quality standards were less likely to have multiple adverse family impacts than CSHCN + ASD whose health care did not meet federal quality standards.
CONCLUSIONS: CSHCN + ASD are more prone to experience poor health care quality and family impacts than other CSHCN, even CSHCN + FL. Receipt of care meeting federal quality standards may potentially lessen adverse family impacts for CSHCN + ASD.
C1 [Zuckerman, Katharine E.; Lindly, Olivia J.; Bethell, Christina D.] Oregon Hlth & Sci Univ, Child & Adolescent Hlth Measurement Initiat, Portland, OR 97239 USA.
[Zuckerman, Katharine E.] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Lindly, Olivia J.] Oregon State Univ, Dept Publ Hlth, Corvallis, OR 97331 USA.
[Kuhlthau, Karen] Massachusetts Gen Hosp Children, Ctr Child & Adolescent Hlth Res & Policy, Boston, MA USA.
[Kuhlthau, Karen] Harvard Univ, Sch Med, Dept Pediat, Div Gen Pediat, Cambridge, MA 02138 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, Mail Code CDRC P 707 SW Gaines Rd, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
FU National Institute of Mental Health Mentored Career Development Award
[K23MH095828]; Nancy Lurie Marks Foundation; US Department of Health and
Human Services, Health Resources and Services Administration, Maternal
and Child Health Bureau [1-U59-MC06980-01]
FX Supported in part by National Institute of Mental Health Mentored Career
Development Award K23MH095828 (Dr Zuckerman), the Nancy Lurie Marks
Foundation (Dr Kuhlthau), and Cooperative Agreement 1-U59-MC06980-01
from the US Department of Health and Human Services, Health Resources
and Services Administration, Maternal and Child Health Bureau (Dr
Bethell). The authors thank Julie Robertson, MPH, MSW, for assistance
with data analysis.
CR Allik H, 2006, HEALTH QUAL LIFE OUT, V4, DOI 10.1186/1477-7525-4-1
Almansour MA, 2013, NEUROSCIENCES, V18, P58
[Anonymous], 2012, MMWR SURVEILLENCE SU, V61, P1
Association of Maternal and Child Health Programs, 2012, AFF CAR ACT CHILDR Y
Bethell CD, 2002, AMBUL PEDIATR, V2, P38, DOI 10.1367/1539-4409(2002)002<0038:ICWSHC>2.0.CO;2
Blumberg S.J., 2013, NATL HLTH STAT REPOR, V65, P1
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Lollar JD, 2012, PEDIATRICS, V129, pe714
Maglione Margaret A, 2012, Pediatrics, V130 Suppl 2, pS169, DOI 10.1542/peds.2012-0900O
McPherson M, 1998, PEDIATRICS, V102, P137, DOI 10.1542/peds.102.1.137
Montes G, 2008, PEDIATRICS, V122, pE202, DOI 10.1542/peds.2007-3037
Shattuck PT, 2006, PEDIATRICS, V117, P1028, DOI 10.1542/peds.2005-1516
Sikora Darryn M, 2012, Pediatrics, V130 Suppl 2, pS91, DOI 10.1542/peds.2012-0900G
Taylor JL, 2011, J AUTISM DEV DISORD, V41, P566, DOI 10.1007/s10803-010-1070-3
Thomas KC, 2012, MATERN CHILD HLTH J, V16, P1636, DOI 10.1007/s10995-011-0862-1
US Department of Health and Human Services, HLTH PEOPL 2020 MAT
Wazana A, 2007, J AM ACAD CHILD PSY, V46, P721, DOI 10.1097/chi.0b013e31804a7f3b
Wegner LM, 2009, PEDIATR ANN, V38, P57
NR 38
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 398
EP 407
PG 10
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200013
PM 24976352
ER
PT J
AU Broder-Fingert, S
Brazauskas, K
Lindgren, K
Iannuzzi, D
Van Cleave, J
AF Broder-Fingert, Sarabeth
Brazauskas, Karissa
Lindgren, Kristen
Iannuzzi, Dorothea
Van Cleave, Jeanne
TI Prevalence of Overweight and Obesity in a Large Clinical Sample of
Children With Autism
SO ACADEMIC PEDIATRICS
LA English
DT Article
DE autism; obesity; overweight
ID SPECTRUM DISORDERS; CHILDHOOD OBESITY; PHYSICAL-ACTIVITY; UNITED-STATES;
WEIGHT-GAIN; HEALTH; ADOLESCENTS; DISABILITIES; MEDICATIONS
AB BACKGROUND: Overweight and obesity are major pediatric public health problems in the United States; however, limited data exist on the prevalence and correlates of overnutrition in children with autism.
METHODS: Through a large integrated health care system's patient database, we identified 6672 children ages 2 to 20 years with an assigned ICD-9 code of autism (299.0), Asperger syndrome (299.8), and control subjects from 2008 to 2011 who had at least 1 weight and height recorded in the same visit. We calculated age-adjusted, sex-adjusted body mass index and classified children as overweight (body mass index 85th to 95th percentile) or obese (>= 95th percentile). We used multinomial logistic regression to compare the odds of overweight and obesity between groups. We then used logistic regression to evaluate factors associated with overweight and obesity in children with autism, including demographic and clinical characteristics.
RESULTS: Compared to control subjects, children with autism and Asperger syndrome had significantly higher odds of over-weight (odds ratio, 95% confidence interval: autism 2.24, 1.74-2.88; Asperger syndrome 1.49, 1.12-1.97) and obesity (autism 4.83, 3.85-6.06; Asperger syndrome 5.69, 4.50-7.21). Among children with autism, we found a higher odds of obesity in older children (aged 12-15 years 1.87, 1.33-2.63; aged 16-20 years 1.94, 1.39-2.71) compared to children aged 6 to 11 years. We also found higher odds of overweight and obesity in those with public insurance (overweight 1.54, 1.25-1.89; obese 1.16, 1.02-1.40) and with co-occurring sleep disorder (obese 1.23, 1.00-1.53).
CONCLUSIONS: Children with autism and Asperger syndrome had significantly higher odds of overweight and obesity than control subjects. Older age, public insurance, and co-occurring sleep disorder were associated with overweight or obesity in this population.
C1 [Broder-Fingert, Sarabeth; Iannuzzi, Dorothea; Van Cleave, Jeanne] Ctr Child & Adolescent Hlth Res & Policy, Div Gen Pediat, Boston, MA USA.
[Brazauskas, Karissa; Lindgren, Kristen] MassGen Hosp Children, Boston, MA USA.
RP Broder-Fingert, S (reprint author), MassGen Hosp Children, Ctr Child & Adolescent Hlth Res & Policy, Div Gen Pediat, 100 Cambridge St,Room 1542, Boston, MA 02114 USA.
EM sbroder-finger@partners.org
FU APA Resident Investigator Award
FX Supported in part by the APA Resident Investigator Award.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnard L, 2002, J PSYCHOPHARMACOL, V16, P93
Bauman ML, 2010, NEUROTHERAPEUTICS, V7, P320, DOI 10.1016/j.nurt.2010.06.001
Biro FM, 2010, AM J CLIN NUTR, V91, p1499S, DOI 10.3945/ajcn.2010.28701B
Blumberg S. J., 2013, 65 NAT CTR HLTH STAT
Curtin C, 2014, HARVARD REV PSYCHIAT, V22, P93, DOI 10.1097/HRP.0000000000000031
Curtin Carol, 2005, BMC Pediatr, V5, P48, DOI 10.1186/1471-2431-5-48
Curtin C, 2010, BMC PEDIATR, V10, DOI 10.1186/1471-2431-10-11
Ebbeling CB, 2002, LANCET, V360, P473, DOI 10.1016/S0140-6736(02)09678-2
Egan AM, 2013, CHILD OBES, V9, P125, DOI 10.1089/chi.2012.0028
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Han JC, 2010, LANCET, V375, P1737, DOI 10.1016/S0140-6736(10)60171-7
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Kuczmarski RJ, 2002, VITAL HLTH STAT, P11
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Zuckerman KE, J AUSTISM D IN PRESS
NR 31
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1876-2859
EI 1876-2867
J9 ACAD PEDIATR
JI Acad. Pediatr.
PD JUL-AUG
PY 2014
VL 14
IS 4
BP 408
EP 414
PG 7
WC Pediatrics
SC Pediatrics
GA AL0OC
UT WOS:000338825200014
PM 24976353
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Messana, T
Buonomo, AR
Portella, G
Sorrentino, R
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Messana, Tullio
Buonomo, Antonio Riccardo
Portella, Giuseppe
Sorrentino, Rosanna
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Prevalence and Titre of Antibodies to Cytomegalovirus and Epstein-Barr
Virus in Patients with Autism Spectrum Disorder
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; CMV; EBV; antibody titre
ID HERPES-SIMPLEX ENCEPHALITIS; MULTIPLE-SCLEROSIS; MATERNAL INFECTION;
INFANTILE-AUTISM; FETAL-BRAIN; VITAMIN-D; CHILDREN; ASSOCIATION;
RUBELLA; ACTIVATION
AB Background/Aim: The etiology of autism spectrum disorders (ASD) is currently unknown. Few studies have explored the role of Cytomegalovirus (CMV) and Epstein Barr Virus (EBV) as potential etiological factors of ASD. The aim of the present study was to evaluate the seropositivity rate and antibody titre to CMV and EBV in children with ASD compared to same-aged healthy controls. Patients and Methods: We compared the seropositivity rate and titre of antibodies to CMV and EBV in 54 children with ASD (19 with autistic disorder and 35 with non-autistic disorder ASD) and in 46 controls. Results: Seropositivity rate and titre of the two antibodies were not dissimilar between cases and controls. However, considering only patients with ASD, those seropositive for CMV tended to test worse to the major severity scales than the seronegative ones. Conclusion: Titre and seropositivity rate of antibodies to CMV and EBV are similar between children with ASD and healthy controls.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Dept Clin Med & Surg, Infect Dis Sect, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Sorrentino, Rosanna; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Messana, Tullio; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Dept Clin Med & Surg, Infect Dis Sect, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 2012, MMWR SURVEILL SUMM, V61, P1
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NR 57
TC 1
Z9 1
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 621
EP 626
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500028
PM 24982232
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Riccio, MP
Buonomo, AR
Portella, G
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Riccio, Maria Pia
Buonomo, Antonio Riccardo
Portella, Giuseppe
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Exposure to Varicella Zoster Virus Is Higher in Children with Autism
Spectrum Disorder than in Healthy Controls. Results from a Case-control
Study
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; etiopathogenesis; prevalence; titre; VZV
ID CONGENITAL CYTOMEGALOVIRUS-INFECTION; HERPES-SIMPLEX ENCEPHALITIS;
MATERNAL IMMUNE ACTIVATION; VITAMIN-D; RISK-FACTORS; FETAL-BRAIN;
ASSOCIATION; ANTIBODIES; EXPRESSION; SYMPTOMS
AB Background/Aim: Autism spectrum disorder (ASD) is a group of central nervous system disorders lacking a definite etiology. The aim of the present study was to compare the exposure rate and titer of antibodies to Varicella Zoster Virus (VZV) in children with ASD and in healthy controls. Patients and Methods: We enrolled 54 children with ASD and 46 control individuals. Results: The exposure rate and titer of anti-VZV antibodies were significantly higher in children with ASD compared to controls (59% vs. 39% and 694 mIU/ml vs. 94 mIU/ml, respectively). Conclusion: In the present case-control study, exposure to VZV was found to be independently associated with ASD.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Riccio, Maria Pia; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAG STAT MAN MENT D
American Psychiatric Association, 2013, DIAG STAT MAN MENT D
ANLAR B, 1994, J CHILD NEUROL, V9, P104
Autism and Developmental Disabilities Monitoring Network Surveillance Principal Investigators, 2012, MMWR SURVEILL SUMM, V61, P1
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Cannell JJ, 2008, MED HYPOTHESES, V70, P750, DOI 10.1016/j.mehy.2007.08.016
CHESS S, 1971, J AUTISM CHILD SCHIZ, V1, P33, DOI 10.1007/BF01537741
Comi AM, 1999, J CHILD NEUROL, V14, P388, DOI 10.1177/088307389901400608
DELONG GR, 1981, ARCH NEUROL-CHICAGO, V38, P191
Desmond MM, 1970, ADV TERATOL, V4, P39
DEYKIN EY, 1979, AM J EPIDEMIOL, V109, P628
Dogan Y, 2011, FETAL DIAGN THER, V30, P141, DOI 10.1159/000330636
Engel SM, 2011, EPIDEMIOLOGY, V22, P486, DOI 10.1097/EDE.0b013e31821daf1c
Eyles DW, 2012, FRONT NEUROENDOCRIN, V11, P11
FOWLER KB, 1992, NEW ENGL J MED, V326, P663, DOI 10.1056/NEJM199203053261003
Garbett KA, 2012, TRANSL PSYCHIAT, V2, DOI 10.1038/tp.2012.24
Gentile I, 2013, IN VIVO, V27, P377
Gentile I, 2010, BMC INFECT DIS, V10, DOI 10.1186/1471-2334-10-49
Gentile I, 2013, IN VIVO, V27, P843
Gentile I, 2013, PLATELETS, V24, P574, DOI 10.3109/09537104.2012.735721
Gentile I, 2013, J PSYCHIAT, V3, P18
Gentile I, 2013, MED HYPOTHESES, V81, P26, DOI 10.1016/j.mehy.2013.04.002
GHAZIUDDIN M, 1992, J AUTISM DEV DISORD, V22, P107, DOI 10.1007/BF01046406
GILLBERG C, 1986, J AUTISM DEV DISORD, V16, P369, DOI 10.1007/BF01531665
Grant William B, 2009, Dermatoendocrinol, V1, P223
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Jankosky C, 2012, VIRUS RES, V163, P424, DOI 10.1016/j.virusres.2011.11.010
JORGENSEN OS, 1982, ACTA PSYCHIAT SCAND, V66, P42, DOI 10.1111/j.1600-0447.1982.tb00913.x
Jyonouchi H, 2001, J NEUROIMMUNOL, V120, P170, DOI 10.1016/S0165-5728(01)00421-0
Kawashti Maha I S, 2006, Egypt J Immunol, V13, P99
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Keil A, 2010, EPIDEMIOLOGY, V21, P805, DOI 10.1097/EDE.0b013e3181f26e3f
King CR, 2011, MED HYPOTHESES, V76, P653, DOI 10.1016/j.mehy.2011.01.024
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Libbey JE, 2005, J NEUROVIROL, V11, P1, DOI 10.1080/13550280590900553
LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145
Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947
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Mora M, 2009, INVEST CLIN, V50, P315
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Schopler E., 1988, CHILDHOOD AUTISM RAT
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Sparrow S, 1984, VINELAND ADAPTIVE BE
STAGNO S, 1985, NEW ENGL J MED, V313, P1270, DOI 10.1056/NEJM198511143132006
STUBBS EG, 1978, J AUTISM CHILD SCHIZ, V8, P37, DOI 10.1007/BF01550276
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NR 58
TC 0
Z9 0
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 627
EP 631
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500029
PM 24982233
ER
PT J
AU Gentile, I
Zappulo, E
Bonavolta, R
Maresca, R
Riccio, MP
Buonomo, AR
Portella, G
Vallefuoco, L
Settimi, A
Pascotto, A
Borgia, G
Bravaccio, C
AF Gentile, Ivan
Zappulo, Emanuela
Bonavolta, Raffaele
Maresca, Roberta
Riccio, Maria Pia
Buonomo, Antonio Riccardo
Portella, Giuseppe
Vallefuoco, Luca
Settimi, Alessandro
Pascotto, Antonio
Borgia, Guglielmo
Bravaccio, Carmela
TI Prevalence of Herpes Simplex Virus 1 and 2 Antibodies in Patients with
Autism Spectrum Disorders
SO IN VIVO
LA English
DT Article
DE Autism spectrum disorder; etiopathogenesis; HSV1; HSV2
ID EPSTEIN-BARR-VIRUS; ENCEPHALITIS; INFECTION; CHILDREN; BRAIN;
ASSOCIATION; DEFICITS; GENES; ONSET
AB Background/Aim: The etiology of autism spectrum disorder (ASD) is unknown, even though it is hypothesized that a viral infection could trigger this disorder. The aim of this study was to evaluate the seropositivity rate and antibody level of Herpes Simplex Virus 1 (HSV1) and Herpes Simplex Virus 2 (HSV2) in children with ASD compared to same-aged healthy controls. Patients and Methods: We compared seropositivity rate and levels of antibodies to HSV1/2 in 54 children with ASD (19 with autistic disorder and 35 with non-autistic ASD) and in 46 controls. Results: Seropositivity rate and levels of anti-HSV1/2 were not dissimilar between cases and controls. Exposure to HSV2 was minimal. Conclusion: Rate of contact with HSV1 and HSV2 assessed by the mean of detection of specific antibodies was similar between children with ASD and healthy controls.
C1 [Gentile, Ivan; Zappulo, Emanuela; Buonomo, Antonio Riccardo; Borgia, Guglielmo] Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, I-80131 Naples, Italy.
[Bonavolta, Raffaele; Portella, Giuseppe; Vallefuoco, Luca; Settimi, Alessandro; Bravaccio, Carmela] Univ Naples Federico II, Dept Med Translat Sci, I-80131 Naples, Italy.
[Maresca, Roberta; Riccio, Maria Pia; Pascotto, Antonio] Univ Naples 2, Naples, Italy.
RP Gentile, I (reprint author), Univ Naples Federico II, Infect Dis Sect, Dept Clin Med & Surg, Via S Pansini 5, I-80131 Naples, Italy.
EM ivan.gentile@unina.it
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 34
TC 0
Z9 0
PU INT INST ANTICANCER RESEARCH
PI ATHENS
PA EDITORIAL OFFICE 1ST KM KAPANDRITIOU-KALAMOU RD KAPANDRITI, PO BOX 22,
ATHENS 19014, GREECE
SN 0258-851X
EI 1791-7549
J9 IN VIVO
JI In Vivo
PD JUL-AUG
PY 2014
VL 28
IS 4
BP 667
EP 671
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AK9VU
UT WOS:000338777500035
PM 24982239
ER
PT J
AU Atkinson, MA
Simpson, A
Skarratt, PA
Cole, GG
AF Atkinson, Mark A.
Simpson, Andrew
Skarratt, Paul A.
Cole, Geoff G.
TI Is social inhibition of return due to action co-representation?
SO ACTA PSYCHOLOGICA
LA English
DT Article
DE Social IOR; Joint action; Social attention; Biological motion; Objects;
Co-representation
ID OBJECT-CENTERED INHIBITION; INFLUENCE FREDS ACTION; VISUAL-ATTENTION;
SELECTIVE ATTENTION; POINTING MOVEMENTS; OTHERS ACTIONS; REACTION-TIME;
MOTOR; AUTISM; GAZE
AB When two individuals alternate reaching responses to visual targets presented on a shared workspace, one individual is slower to respond to targets occupying the same position as their partner's previous response. This phenomenon is thought to be due to processes that inhibit the initiation of a movement to a location recently acted upon. However, two distinct forms of the inhibition account have been posited, one based on inhibition of an action, the other based on inhibition of an action and location. Furthermore, an additional recent explanation suggests the phenomenon is due to mechanisms that give rise to action congruency effects. Thus the three different theories differ in the degree to which action co-representation plays a role in the effect. The aim of the present work was to examine these competing accounts. Three experiments demonstrated that when identical actions are made, the effect is modulated by the configuration of the visual stimuli acted upon and the perceptual demands of the task. In addition, when the co-actors perform different actions to the same target, the effect is still observed. These findings support the hypothesis that this particular joint action phenomenon is generated via social cues that induce location-based inhibition of return rather than being due to shared motor co-representations. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Atkinson, Mark A.; Simpson, Andrew; Cole, Geoff G.] Univ Essex, Ctr Brain Sci, Colchester CO4 3SQ, Essex, England.
[Skarratt, Paul A.] Univ Hull, Dept Psychol, Kingston Upon Hull HU6 7RX, N Humberside, England.
RP Atkinson, MA (reprint author), Univ Essex, Ctr Brain Sci, Wivenhoe Pk, Colchester CO4 3SQ, Essex, England.
EM matkinb@essex.ac.uk; ggcole@essex.ac.uk
CR Atmaca S, 2008, SOC NEUROSCI, V3, P410, DOI 10.1080/17470910801900908
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NR 66
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0001-6918
EI 1873-6297
J9 ACTA PSYCHOL
JI Acta Psychol.
PD JUL
PY 2014
VL 150
BP 85
EP 93
DI 10.1016/j.actpsy.2014.04.003
PG 9
WC Psychology, Experimental
SC Psychology
GA AL0IU
UT WOS:000338811400011
PM 24859672
ER
PT J
AU Zhao, S
Uono, S
Yoshimura, S
Toichi, M
AF Zhao, Shuo
Uono, Shota
Yoshimura, Sayaka
Toichi, Motomi
TI Attention orienting by eye gaze and arrows reveals flexibility to
environmental changes
SO ACTA PSYCHOLOGICA
LA English
DT Article
DE Orienting attention; Gaze; Arrow; Environmental changes
ID HIGH-FUNCTIONING AUTISM; JOINT ATTENTION; CUES; CHILDREN; SPECTRUM;
PERCEPTION; DIRECTION; MOVEMENT; CONTEXT; SOUND
AB This study aimed to evaluate the difference in non-predictive cues between gaze and arrows in attention orienting. Attention orienting was investigated with gaze or arrows as separate cues in a simple condition (i.e., block design) in Experiment 1 and in an unpredictable condition (i.e., randomized design) in Experiment 2. Two kinds of sound (voice and tone) stimuli were used as targets. Results showed that gaze and arrow cues induced enhanced attention orienting to a voice versus tone target in the block condition. However, in the randomized condition, enhanced attention orienting to a voice versus tone target was found in gaze but not arrow cues. The congruency of the meaning between a social cue (i.e., gaze) and a social target (i.e., voice) was clear in the randomized but not blocked design, because social gaze and non-social arrow cues were implemented in the same block. Thus, attention orienting might be mediated by the associated relationship of cue-target in a randomized condition, as an enhanced orienting effect was found when the associated relationship of cue-target was strong (i.e., social cue and target). The present study suggests that the difference in attention orienting between gaze and arrows is apparent in a randomized design (the unpredictable condition), and people employ a flexibly strategy of orienting to better respond to environmental changes. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Zhao, Shuo; Uono, Shota; Toichi, Motomi] Kyoto Univ, Grad Sch Med, Sch Hlth Sci, Kyoto 6068507, Japan.
[Yoshimura, Sayaka] Kyoto Univ, Grad Sch Med, Dept Psychiat, Kyoto 6068507, Japan.
[Zhao, Shuo; Toichi, Motomi] Org Promoting Dev Disorder Res, Kyoto 6068507, Japan.
RP Zhao, S (reprint author), Kyoto Univ, Grad Sch Med, Sch Hlth Sci, Sakyo Ku, 53 Shogoin Kawahara Cho, Kyoto 6068507, Japan.
EM zhaoshuo09@gmail.com
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NR 31
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0001-6918
EI 1873-6297
J9 ACTA PSYCHOL
JI Acta Psychol.
PD JUL
PY 2014
VL 150
BP 100
EP 105
DI 10.1016/j.actpsy.2014.05.003
PG 6
WC Psychology, Experimental
SC Psychology
GA AL0IU
UT WOS:000338811400013
PM 24866453
ER
PT J
AU Biscaldi, M
Rauh, R
Irion, L
Jung, NH
Mall, V
Fleischhaker, C
Klein, C
AF Biscaldi, Monica
Rauh, Reinhold
Irion, Lisa
Jung, Nikolai H.
Mall, Volker
Fleischhaker, Christian
Klein, Christoph
TI Deficits in motor abilities and developmental fractionation of imitation
performance in high-functioning autism spectrum disorders
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; Neuromotor deficit; Zurich Neuromotor
Assessment; Imitation; Non-meaningful gestures
ID MIRROR NEURON SYSTEM; ASPERGER-SYNDROME; NEUROMOTOR DEVELOPMENT;
DIAGNOSTIC INTERVIEW; GERMAN FORM; CHILDREN; RELIABILITY; DYSFUNCTION;
IMPAIRMENT; CEREBELLUM
AB The co-occurrence of motor and imitation disabilities often characterises the spectrum of deficits seen in patients with autism spectrum disorders (ASD). Whether these seemingly separate deficits are inter-related and whether, in particular, motor deficits contribute to the expression of imitation deficits is the topic of the present study and was investigated by comparing these deficits' cross-sectional developmental trajectories. To that end, different components of motor performance assessed in the Zurich Neuromotor Assessment and imitation abilities for facial movements and non-meaningful gestures were tested in 70 subjects (aged 6-29 years), including 36 patients with high-functioning ASD and 34 age-matched typically developed (TD) participants. The results show robust deficits in probands with ASD in timed motor performance and in the quality of movement, which are all independent of age, with one exception. Only diadochokinesis improves moderately with increasing age in ASD probands. Imitation of facial movements and of non-meaningful hand, finger, hand finger gestures not related to social context or tool use is also impaired in ASD subjects, but in contrast to motor performance this deficit overall improves with age. A general imitation factor, extracted from the highly inter-correlated imitation tests, is differentially correlated with components of neuromotor performance in ASD and TD participants. By developmentally fractionating developmentally stable motor deficits from developmentally dynamic imitation deficits, we infer that imitation deficits are primarily cognitive in nature.
C1 [Biscaldi, Monica; Rauh, Reinhold; Irion, Lisa; Fleischhaker, Christian; Klein, Christoph] Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, D-79104 Freiburg, Germany.
[Jung, Nikolai H.; Mall, Volker] Tech Univ Munich, Dept Paediat, D-80290 Munich, Germany.
[Klein, Christoph] Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
RP Biscaldi, M (reprint author), Univ Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, Hauptstr 8, D-79104 Freiburg, Germany.
EM monica.biscaldi-schaefer@uniklinik-freiburg.de
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NR 67
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD JUL
PY 2014
VL 23
IS 7
BP 599
EP 610
DI 10.1007/s00787-013-0475-x
PG 12
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AK9QG
UT WOS:000338761100010
PM 24085467
ER
PT J
AU Saunders, C
Siuta, M
Robertson, SD
Davis, AR
Sauer, J
Matthies, HJG
Gresch, PJ
Airey, DC
Lindsley, CW
Schetz, JA
Niswender, KD
Veenstra-Vanderweele, JM
Galli, A
AF Saunders, Christine
Siuta, Michael
Robertson, Sabrina D.
Davis, Adeola R.
Sauer, Jennifer
Matthies, Heinrich J. G.
Gresch, Paul J.
Airey, David C.
Lindsley, Craig W.
Schetz, John A.
Niswender, Kevin D.
Veenstra-Vanderweele, Jeremy M.
Galli, Aurelio
TI Neuronal ablation of p-Akt at Ser473 leads to altered 5-HT1A/2A receptor
function
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Serotonin; Akt; Cortex; 5HT(1A) receptor; 5HT(2A) receptor
ID SEROTONIN 2A RECEPTOR; NOREPINEPHRINE TRANSPORTER TRAFFICKING;
POSITRON-EMISSION-TOMOGRAPHY; HEAD-TWITCH RESPONSE; DOPAMINE
TRANSPORTER; IN-VIVO; RAT-BRAIN; BINDING; 5-HT2A; MICE
AB The serotonergic system regulates a wide range of behavior, including mood and impulsivity, and its dysregulation has been associated with mood disorders, autism spectrum disorder, and addiction. Diabetes is a risk factor for these conditions. Insulin resistance in the brain is specifically associated with susceptibility to psychostimulant abuse. Here, we examined whether phosphorylation of Akt, a key regulator of the insulin signaling pathway, controls serotonin (5-HT) signaling. To explore how impairment in Akt function regulates 5-HT homeostasis, we used a brain-specific rictor knockout (KO) mouse model of impaired neuronal phosphorylation of Akt at Ser473. Cortical 5-HT1A and 5-HT2A receptor binding was significantly elevated in rictor KO mice. Concomitant with this elevated receptor expression, the 5-HT1A receptor agonist 8-Hydroxy-2-(di-n-propylamino)tetralin (8-OH-DPAT) led to an increased hypothermic response in rictor KO mice. The increased cortical 5-HT1A receptor density was associated with higher 5-HT1A receptor levels on the cortical cell surface. In contrast, rictor KO mice displayed significantly reduced head-twitch response (HTR) to the 5-HT2A/C agonist 2,5-dimethoxy-4-iodamphetamine (DOI), with evidence of impaired 5-HT2A/C receptor signaling. In vitro, pharmacological inhibition of Akt significantly increased 5-HT1A receptor expression and attenuated DOI-induced 5-HT2A receptor signaling, thereby lending credence to the observed in vivo cross-talk between neuronal Akt signaling and 5-HT receptor regulation. These data reveal that defective central Akt function alters 5-HT signaling as well as 5-HT-associated behaviors, demonstrating a novel role for Akt in maintaining neuronal 5-HT receptor function. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Saunders, Christine; Gresch, Paul J.; Airey, David C.; Lindsley, Craig W.; Veenstra-Vanderweele, Jeremy M.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
[Siuta, Michael; Robertson, Sabrina D.; Davis, Adeola R.; Matthies, Heinrich J. G.; Galli, Aurelio] Vanderbilt Univ, Med Ctr, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA.
[Sauer, Jennifer; Veenstra-Vanderweele, Jeremy M.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA.
[Niswender, Kevin D.] Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN 37232 USA.
[Galli, Aurelio] Vanderbilt Univ, Med Ctr, Dept Neurosci, Program Subst Abuse, Nashville, TN 37232 USA.
[Schetz, John A.] Univ N Texas, Hlth Sci Ctr, Dept Pharmacol & Neurosci, Ft Worth, TX USA.
RP Veenstra-Vanderweele, JM (reprint author), Vanderbilt Univ, Med Ctr, Dept Psychiat, 465 21st Ave South,MRB3,Room 7158C, Nashville, TN 37232 USA.
EM j.vvw@vanderbilt.edu; aurelio.-galli@vanderbilt.edu
FU National Institutes of Health [P50 MH078028, MH063162, MH081066,
DK085712]
FX This work was supported by National Institutes of Health Grants P50
MH078028-Pilot Project (C.S.), MH063162 (J.A.S.), MH081066 (J.V.), and
DK085712 (A.G. and K.D.N.). We thank Amanda Poe for assistance in
genotyping and maintaining the mouse colonies. We are very grateful to
the Conte Center Bioanalytical Core, specifically to Brett Begely, for
his technical skills with the 5-HT receptor and transporter binding
studies.
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NR 73
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 113
EP 121
DI 10.1016/j.neuint.2013.09.015
PG 9
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800013
PM 24090638
ER
PT J
AU Whyte, A
Jessen, T
Varney, S
Carneiro, AMD
AF Whyte, Alonzo
Jessen, Tammy
Varney, Seth
Carneiro, Ana M. D.
TI Serotonin transporter and integrin beta 3 genes interact to modulate
serotonin uptake in mouse brain
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Serotonin transporter; Integrin; Genetic interaction; Neuropsychiatric
disorders; Autism
ID MICE; DEPRESSION; RECEPTOR
AB Dysfunctions in serotonin (5-hydroxytryptamine, 5-HT) systems have been associated with several psychiatric illnesses, including anxiety, depression, obsessive-compulsive disorders and autism spectrum disorders. Convergent evidence from genetic analyses of human subjects has implicated the integrin beta 3 subunit gene (ITGB3) as a modulator of serotonergic systems via genetic interactions with the 5-HT transporter gene (SLC6A4, SERT). While genetic interactions may result from contributions of each gene at several levels, we hypothesize that ITGB3 modulates the 5-HT system at the level of the synapse, through the actions of integrin alpha v beta 3. Here we utilized a genetic approach in mouse models to examine Itgb3 contributions to SERT function both in the context of normal and reduced SERT expression. As integrin alpha v beta 3 is expressed in postsynaptic membranes, we isolated synaptoneurosomes, which maintain intact pre- and post-synaptic associations. Citalopram binding revealed significant Slc6a4-driven reductions in SERT expression in midbrain synapses, whereas no significant changes were observed in hippocampal or cortical projections. Expecting corresponding changes to SERT function, we also measured 5-HT uptake activity in synaptoneurosomal preparations. Itgb3 single heterozygous mice displayed significant reductions in 5-HT V-max, with no changes in K in midbrain preparations. However, in the presence of both Itgb3 and Slc6a4 heterozygozity, 5-HT uptake was similar to wild-type levels, revealing a significant Slc6a4 by Itgb3 genetic interaction in the midbrain. Similar findings were observed in cortical preparations, whereas in the hippocampus, most V-max changes were driven solely by Slc6a4. Our findings provide evidence that integrin alpha v beta 3 is involved in the regulation of serotonergic systems in some, but not all 5-HT synapses, revealing novel contributions to synaptic specificity within the central nervous system. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Whyte, Alonzo] Vanderbilt Brain Inst, Neurosci Grad Program, Nashville, TN 37232 USA.
[Jessen, Tammy; Varney, Seth; Carneiro, Ana M. D.] Vanderbilt Univ, Sch Med, Dept Pharmacol, Nashville, TN 37232 USA.
RP Carneiro, AMD (reprint author), Vanderbilt Univ, Med Ctr, 461 Preston Res Bldg,23rd Ave South Pierce, Nashville, TN 37232 USA.
EM ana.carneiro@vanderbilt.edu
FU NIMH [090256-01A1]
FX We thank Dennis Murphy and Richard Hynes for generating the Slc6a4 and
Itgb3 lines used in this paper. We thank Jeremy Veenstra-Vanderweele and
Randy D. Blakely for many helpful discussions. This work was supported
by NIMH Grant 090256-01A1.
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NR 15
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 122
EP 126
DI 10.1016/j.neuint.2013.09.014
PG 5
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800014
PM 24083985
ER
PT J
AU Ilie, A
Weinstein, E
Boucher, A
McKinney, RA
Orlowski, J
AF Ilie, Alina
Weinstein, Erica
Boucher, Annie
McKinney, R. Anne
Orlowski, John
TI Impaired posttranslational processing and trafficking of an endosomal
Na+/H+ exchanger NHE6 mutant (Delta(WST372)-W-370) associated with
X-linked intellectual disability and autism
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE NHE6; Recycling endosomes; Vesicular trafficking; Neurodegeneration;
Intellectual disability
ID ENDOPLASMIC-RETICULUM STRESS; HIPPOCAMPAL PYRAMIDAL NEURONS;
GLYCOGEN-SYNTHASE KINASE-3; MENTAL-RETARDATION; DENDRITIC SPINES;
CHRISTIANSON SYNDROME; RECYCLING ENDOSOMES; ANGELMAN-SYNDROME; SLC9A6
MUTATIONS; AMPA RECEPTORS
AB Ne+/H+ exchanger NHE6/SLC9A6 is an X-linked gene that is widely expressed and especially abundant in brain, heart and skeletal muscle where it is implicated in endosomal pH homeostasis and trafficking as well as maintenance of cell polarity. Recent genetic studies have identified several mutations in the coding region of NHE6 that are linked with severe intellectual disability, autistic behavior, ataxia and other abnormalities. One such defect consists of an in-frame deletion of three amino acids ((370)Trp-Ser-Thr(372), Delta WST) that adjoin the predicted ninth transmembrane helix of the exchanger. To better understand the nature of this mutation, a NHE6 Delta WST construct was generated and assessed for its effects on the biochemical and cellular properties of the transporter. In transfected fibroblastic CHO and neuroblastoma SH-SY5Y cells, immunoblot analyses showed that the mutant protein was effectively synthesized, but its subsequent oligosaccharide maturation and overall half-life were dramatically reduced compared to wild-type. These changes correlated with significant accumulation of AWST in the endoplasmic reticulum, with only minor sorting to the plasma membrane and negligible trafficking to recycling endosomes. The diminished accumulation in recycling endosomes was associated with a significant decrease in the rate of endocytosis of cell surface AWST compared to wild-type. Furthermore, while ectopic expression of wild-type NHE6 enhanced the uptake of other vesicular cargo such as transferrin along the clathrin-mediated recycling endosomal pathway, this ability was lost in the AWST mutant. Similarly, in transfected primary mouse hippocampal neurons, wild-type NHE6 was localized in discrete puncta throughout the soma and neurites, whereas the AWST mutant displayed a diffuse reticular pattern. Remarkably, the extensive dendritic arborization observed in neurons expressing wild-type NHE6 was noticeably diminished in Delta WST-transfectants. These results suggest that deletion of (370)Trp-Ser-Thr(372) leads to endoplasmic reticulum retention and loss of NHE6 function which potentially impacts the trafficking of other membrane-bound cargo and cell polarity. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Ilie, Alina; Weinstein, Erica; Boucher, Annie; Orlowski, John] McGill Univ, Dept Physiol, Montreal, PQ H3G 0B1, Canada.
[McKinney, R. Anne] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 0B1, Canada.
RP Orlowski, J (reprint author), McGill Univ, Dept Physiol, McIntyre Med Sci Bldg, Montreal, PQ H3G 0B1, Canada.
EM john.orlowski@mcgill.ca
FU Canadian Institutes of Health [MOP-86724, MOP-111191]
FX We thank Mica Das Gupta and Cassandra McEwan for technical assistance.
We also acknowledge the technical assistance provided by the McGill Life
Sciences Imaging Facility and Genome Quebec. This work was supported by
Canadian Institutes of Health Research funding held by R.A.M.
(MOP-86724) and J.O. (MOP-111191).
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NR 56
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0197-0186
EI 1872-9754
J9 NEUROCHEM INT
JI Neurochem. Int.
PD JUL
PY 2014
VL 73
SI SI
BP 192
EP 203
DI 10.1016/j.neuint.2013.09.020
PG 12
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AL0FW
UT WOS:000338803800024
PM 24090639
ER
PT J
AU Duerden, EG
Card, D
Roberts, SW
Mak-Fan, KM
Chakravarty, MM
Lerch, JP
Taylor, MJ
AF Duerden, Emma G.
Card, Dallas
Roberts, S. Wendy
Mak-Fan, Kathleen M.
Chakravarty, M. Mallar
Lerch, Jason P.
Taylor, Margot J.
TI Self-injurious behaviours are associated with alterations in the
somatosensory system in children with autism spectrum disorder
SO BRAIN STRUCTURE & FUNCTION
LA English
DT Article
DE Autism; Spectrum disorder; Injury; Grey matter; White matter; Pain
ID REDUCED THALAMIC VOLUME; CORTICAL THICKNESS; REPETITIVE BEHAVIOR;
WARPING TECHNIQUES; BRAIN OVERGROWTH; MATTER STRUCTURE; PARIETAL LOBE;
RISK-FACTORS; MRI DATA; DIFFUSION
AB Children with autism spectrum disorder (ASD) frequently engage in self-injurious behaviours, often in the absence of reporting pain. Previous research suggests that altered pain sensitivity and repeated exposure to noxious stimuli are associated with morphological changes in somatosensory and limbic cortices. Further evidence from postmortem studies with self-injurious adults has indicated alterations in the structure and organization of the temporal lobes; however, the effect of self-injurious behaviour on cortical development in children with ASD has not yet been determined. Thirty children and adolescents (mean age = 10.6 +/- A 2.5 years; range 7-15 years; 29 males) with a clinical diagnosis of ASD and 30 typically developing children (N = 30, mean age = 10.7 +/- A 2.5 years; range 7-15 years, 26 males) underwent T1-weighted magnetic resonance and diffusion tensor imaging. No between-group differences were seen in cerebral volume, surface area or cortical thickness. Within the ASD group, self-injury scores negatively correlated with thickness in the right superior parietal lobule t = 6.3, p < 0.0001, bilateral primary somatosensory cortices (SI) (right: t = 4.4, p = 0.02; left: t = 4.48, p = 0.004) and the volume of the left ventroposterior (VP) nucleus of the thalamus (r = -0.52, p = 0.008). Based on these findings, we performed an atlas-based region-of-interest diffusion tensor imaging analysis between SI and the VP nucleus and found that children who engaged in self-injury had significantly lower fractional anisotropy (r = -0.4, p = 0.04) and higher mean diffusivity (r = 0.5, p = 0.03) values in the territory of the left posterior limb of the internal capsule. Additionally, greater incidence of self-injury was associated with increased radial diffusivity values in bilateral posterior limbs of the internal capsule (left: r = 0.5, p = 0.02; right: r = 0.5, p = 0.009) and corona radiata (left: r = 0.6, p = 0.005; right: r = 0.5, p = 0.009). Results indicate that self-injury is related to alterations in somatosensory cortical and subcortical regions and their supporting white-matter pathways. Findings could reflect use-dependent plasticity in the somatosensory system or disrupted brain development that could serve as a risk marker for self-injury.
C1 [Duerden, Emma G.; Card, Dallas; Roberts, S. Wendy; Mak-Fan, Kathleen M.; Taylor, Margot J.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Duerden, Emma G.; Lerch, Jason P.; Taylor, Margot J.] Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 1X8, Canada.
[Mak-Fan, Kathleen M.; Taylor, Margot J.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada.
[Chakravarty, M. Mallar] Ctr Addict & Mental Hlth, Kimel Family Translat Imaging Genet Res Lab, Res Imaging Ctr, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
[Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
RP Duerden, EG (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM emma.duerden@sickkids.ca
FU Canadian Institutes of Health Research [MOP-81161]; Hospital for Sick
Children; Reva Gerstein Fellowship in Paediatric Psychology
FX The authors would like to thank Wayne Lee for MRI technical and Dr.
Annie Dupuis, Hospital for Sick Children, for statistical analysis
support. This research was funded by the Canadian Institutes of Health
Research [grant number MOP-81161 to MJT], Research Training Competition
Fellowship from the Hospital for Sick Children (EGD), and a Reva
Gerstein Fellowship in Paediatric Psychology (EGD). We also sincerely
thank the children and their families who participated in this study.
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NR 81
TC 1
Z9 1
PU SPRINGER HEIDELBERG
PI HEIDELBERG
PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY
SN 1863-2653
EI 1863-2661
J9 BRAIN STRUCT FUNCT
JI Brain Struct. Funct.
PD JUL
PY 2014
VL 219
IS 4
BP 1251
EP 1261
DI 10.1007/s00429-013-0562-2
PG 11
WC Anatomy & Morphology; Neurosciences
SC Anatomy & Morphology; Neurosciences & Neurology
GA AK6DD
UT WOS:000338517400007
PM 23644587
ER
PT J
AU Lee, SY
Ramirez, J
Franco, M
Lectez, B
Gonzalez, M
Barrio, R
Mayor, U
AF Lee, So Young
Ramirez, Juanma
Franco, Maribel
Lectez, Benoit
Gonzalez, Monika
Barrio, Rosa
Mayor, Ugo
TI Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to
autism, regulates protein homeostasis through the proteasomal shuttle
Rpn10
SO CELLULAR AND MOLECULAR LIFE SCIENCES
LA English
DT Article
DE Ube3a; Ubiquitin; Angelman syndrome; Autism; Proteasome; Rpn10
ID DENDRITIC SPINES; DROSOPHILA-MELANOGASTER; SYNAPSE DEVELOPMENT; GENE
UBE3A; DEGRADATION; RECRUITMENT; EXPRESSION; MUTATIONS; COMPLEXES;
REVEALS
AB Ubiquitination, the covalent attachment of ubiquitin to a target protein, regulates most cellular processes and is involved in several neurological disorders. In particular, Angelman syndrome and one of the most common genomic forms of autism, dup15q, are caused respectively by lack of or excess of UBE3A, a ubiquitin E3 ligase. Its Drosophila orthologue, Ube3a, is also active during brain development. We have now devised a protocol to screen for substrates of this particular ubiquitin ligase. In a neuronal cell system, we find direct ubiquitination by Ube3a of three proteasome-related proteins Rpn10, Uch-L5, and CG8209, as well as of the ribosomal protein Rps10b. Only one of these, Rpn10, is targeted for degradation upon ubiquitination by Ube3a, indicating that degradation might not be the only effect of Ube3a on its substrates. Furthermore, we report the genetic interaction in vivo between Ube3a and the C-terminal part of Rpn10. Overexpression of these proteins leads to an enhanced accumulation of ubiquitinated proteins, further supporting the biochemical evidence of interaction obtained in neuronal cells.
C1 [Lee, So Young; Ramirez, Juanma; Franco, Maribel; Lectez, Benoit; Gonzalez, Monika; Barrio, Rosa; Mayor, Ugo] CIC BioGUNE, Derio 48160, Basque Country, Spain.
[Mayor, Ugo] Basque Fdn Sci, Ikerbasque, Bilbao 48011, Spain.
RP Mayor, U (reprint author), CIC BioGUNE, Bizkaia Teknol Pk,Bldg 801-A, Derio 48160, Basque Country, Spain.
EM umayor@cicbiogune.com
RI Barrio, Rosa/F-8712-2011
OI Barrio, Rosa/0000-0002-9663-0669
FU CIC bioGUNE Gene Silencing Platform; Basque Government [PI2011-24,
PI2009-16, PI2012/42]; March of Dimes Basil O'Connor Starter Scholar
Research Award [5-FY12-16]; Spanish MICINN [BFU2008-01884,
BFU2011-25986]; Bizkaia County; [CSD2007-008-25120]
FX We would like to thank Janice Fischer, Fen-Biao Gao, Zoltan Lipinszki,
Bloomington Stock Center, the DRSC, and The Developmental Studies
Hybridoma Bank-DSHB (University of Iowa) for flies, cells, dsRNA
templates, and antibodies, and David Gubb for helpful advice and
support. We thank J. D. Sutherland for his suggestion to use the
anti-GFP beads. We would also like to thank Larry Reiter and Catherine
Lindon for critical reading and comments on the manuscript. We
acknowledge the CIC bioGUNE Gene Silencing Platform for support. This
work was supported by a Basque Government research grant (PI2011-24) and
a March of Dimes Basil O'Connor Starter Scholar Research Award
(5-FY12-16) to U. M. RB thanks the Spanish MICINN (grants BFU2008-01884,
BFU2011-25986) and the Consolider Program (CSD2007-008-25120), the
Basque Government (PI2009-16 and PI2012/42), and the Bizkaia County.
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NR 46
TC 1
Z9 1
PU SPRINGER BASEL AG
PI BASEL
PA PICASSOPLATZ 4, BASEL, 4052, SWITZERLAND
SN 1420-682X
EI 1420-9071
J9 CELL MOL LIFE SCI
JI Cell. Mol. Life Sci.
PD JUL
PY 2014
VL 71
IS 14
BP 2747
EP 2758
DI 10.1007/s00018-013-1526-7
PG 12
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AK0SW
UT WOS:000338126600012
PM 24292889
ER
PT J
AU Tyszka, JM
Kennedy, DP
Paul, LK
Adolphs, R
AF Tyszka, J. Michael
Kennedy, Daniel P.
Paul, Lynn K.
Adolphs, Ralph
TI Largely Typical Patterns of Resting-State Functional Connectivity in
High-Functioning Adults with Autism
SO CEREBRAL CORTEX
LA English
DT Article
DE autism spectrum disorder; functional magnetic resonance imaging;
independent component analysis; resting-state networks; temporal
correlation
ID SPECTRUM DISORDERS; BRAIN CONNECTIVITY; PUBLICATION BIAS;
CORPUS-CALLOSUM; WORKING-MEMORY; NETWORKS; CORTEX; FMRI; MRI;
UNDERCONNECTIVITY
AB A leading hypothesis for the neural basis of autism postulates globally abnormal brain connectivity, yet the majority of studies report effects that are either very weak, inconsistent across studies, or explain results incompletely. Here we apply multiple analytical approaches to resting-state BOLD-fMRI data at the whole-brain level. Neurotypical and high-functioning adults with autism displayed very similar patterns and strengths of resting-state connectivity. We found only limited evidence in autism for abnormal resting-state connectivity at the regional level and no evidence for altered connectivity at the whole-brain level. Regional abnormalities in functional connectivity in autism spectrum disorder were primarily in the frontal and temporal cortices. Within these regions, functional connectivity with other brain regions was almost exclusively lower in the autism group. Further examination showed that even small amounts of head motion during scanning have large effects on functional connectivity measures and must be controlled carefully. Consequently, we suggest caution in the interpretation of apparent positive findings until all possible confounding effects can be ruled out. Additionally, we do not rule out the possibility that abnormal connectivity in autism is evident at the microstructural synaptic level, which may not be reflected sensitively in hemodynamic changes measured with BOLD-fMRI.
C1 [Tyszka, J. Michael; Adolphs, Ralph] CALTECH, Div Biol, Pasadena, CA 91125 USA.
[Kennedy, Daniel P.; Paul, Lynn K.; Adolphs, Ralph] CALTECH, Div Humanities & Social Sci, Pasadena, CA 91125 USA.
[Kennedy, Daniel P.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
RP Tyszka, JM (reprint author), CALTECH, 2A Broad 114-96,1200 E Calif Blvd, Pasadena, CA 91125 USA.
EM jmt@caltech.edu; dpk@indiana.edu
RI Tyszka, Julian/O-3498-2014
OI Tyszka, Julian/0000-0001-9342-9014
FU National Institutes of Health [P50MH094258, R01 MH080721,
K99MH094409/R00MH094409]; Simons Foundation [SFARI-07-01]; National
Alliance for Research on Schizophrenia and Depression (Young
Investigator Award)
FX This work was supported by a Conte Center grant from the National
Institutes of Health (P50MH094258 to R. A., J.M.T., L. K. P.) and grants
from the Simons Foundation (SFARI-07-01 to R. A.), the National
Institutes of Health (R01 MH080721 to R. A.; K99MH094409/R00MH094409 to
D. P. K.), and the National Alliance for Research on Schizophrenia and
Depression (2009 Young Investigator Award to L.K.P.).
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NR 70
TC 12
Z9 12
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD JUL
PY 2014
VL 24
IS 7
BP 1894
EP 1905
DI 10.1093/cercor/bht040
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AK0NS
UT WOS:000338110900017
PM 23425893
ER
PT J
AU Travis, KE
Curran, MM
Torres, C
Leonard, MK
Brown, TT
Dale, AM
Elman, JL
Halgren, E
AF Travis, Katherine E.
Curran, Megan M.
Torres, Christina
Leonard, Matthew K.
Brown, Timothy T.
Dale, Anders M.
Elman, Jeffrey L.
Halgren, Eric
TI Age-related Changes in Tissue Signal Properties Within Cortical Areas
Important for Word Understanding in 12-to 19-Month-Old Infants
SO CEREBRAL CORTEX
LA English
DT Article
DE brain development; infants; language; structural MRI
ID HUMAN CEREBRAL-CORTEX; NERVOUS-SYSTEM MYELINATION; AUTISM SPECTRUM
DISORDERS; NORMAL BRAIN-DEVELOPMENT; SURFACE-BASED ANALYSIS;
HIGH-RESOLUTION MRI; GRAY-MATTER; MORPHOMETRIC-ANALYSIS; IRON
CONCENTRATION; T2-WEIGHTED MRI
AB Recently, our laboratory has shown that the neural mechanisms for encoding lexico-semantic information in adults operate functionally by 12-18 months of age within left frontotemporal cortices (Travis et al., 2011. Spatiotemporal neural dynamics of word understanding in 12- to 18-month-old-infants. Cereb Cortex. 8:1832-1839). However, there is minimal knowledge of the structural changes that occur within these and other cortical regions important for language development. To identify regional structural changes taking place during this important period in infant development, we examined age-related changes in tissue signal properties of gray matter (GM) and white matter (WM) intensity and contrast. T-1-weighted surface-based measures were acquired from 12- to 19-month-old infants and analyzed using a general linear model. Significant age effects were observed for GM and WM intensity and contrast within bilateral inferior lateral and anterovental temporal regions, dorsomedial frontal, and superior parietal cortices. Region of interest (ROI) analyses revealed that GM and WM intensity and contrast significantly increased with age within the same left lateral temporal regions shown to generate lexico-semantic activity in infants and adults. These findings suggest that neurophysiological processes supporting linguistic and cognitive behaviors may develop before cellular and structural maturation is complete within associative cortices. These results have important implications for understanding the neurobiological mechanisms relating structural to functional brain development.
C1 [Travis, Katherine E.; Curran, Megan M.; Torres, Christina; Leonard, Matthew K.; Dale, Anders M.; Halgren, Eric] Univ Calif San Diego, Dept Radiol, San Diego, CA 92103 USA.
[Travis, Katherine E.; Curran, Megan M.; Torres, Christina; Leonard, Matthew K.; Brown, Timothy T.; Dale, Anders M.; Halgren, Eric] Univ Calif San Diego, Multimodal Imaging Lab, San Diego, CA 92103 USA.
[Brown, Timothy T.; Dale, Anders M.] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA.
[Elman, Jeffrey L.; Halgren, Eric] Univ Calif San Diego, Kavli Inst Brain & Mind, San Diego, CA 92103 USA.
[Elman, Jeffrey L.] Univ Calif San Diego, Dept Cognit Sci, San Diego, CA 92103 USA.
RP Travis, KE (reprint author), Stanford Univ, Dept Pediat, Sch Med, Grant Bldg S-224, Stanford, CA 94305 USA.
EM ktravis1@stanford.edu
FU Kavli Institute for Brain and Mind, UCSD; NIH/NINDA [R01 NS018741-23A1,
R21 HD066364]; NIH; Chancellor's Collaboratories Award, UCSD
FX Funding sources include Kavli Institute for Brain and Mind, UCSD
http://kibm.ucsd.edu/ and NIH/NINDA R01 NS018741-23A1, R21 HD066364
funding of E. H. K. E. T and M. K. L. have been supported by NIH
pre-doctoral training grants and the Chancellor's Collaboratories Award,
UCSD. The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 70
TC 0
Z9 0
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 1047-3211
EI 1460-2199
J9 CEREB CORTEX
JI Cereb. Cortex
PD JUL
PY 2014
VL 24
IS 7
BP 1948
EP 1955
DI 10.1093/cercor/bht052
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AK0NS
UT WOS:000338110900021
PM 23448869
ER
PT J
AU de Klerk, CCJM
Gliga, T
Charman, T
Johnson, MH
AF de Klerk, Carina C. J. M.
Gliga, Teodora
Charman, Tony
Johnson, Mark H.
CA BASIS Team
TI Face engagement during infancy predicts later face recognition ability
in younger siblings of children with autism
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID SPECTRUM DISORDERS; DEVELOPMENTAL DISORDERS; VISUAL-ATTENTION;
GAZE-FIXATION; HIGH-RISK; INDIVIDUALS; TODDLERS; PERCEPTION; DIAGNOSIS;
CIRCUITRY
AB Face recognition difficulties are frequently documented in children with autism spectrum disorders (ASD). It has been hypothesized that these difficulties result from a reduced interest in faces early in life, leading to decreased cortical specialization and atypical development of the neural circuitry for face processing. However, a recent study by our lab demonstrated that infants at increased familial risk for ASD, irrespective of their diagnostic status at 3 years, exhibit a clear orienting response to faces. The present study was conducted as a follow-up on the same cohort to investigate how measures of early engagement with faces relate to face-processing abilities later in life. We also investigated whether face recognition difficulties are specifically related to an ASD diagnosis, or whether they are present at a higher rate in all those at familial risk. At 3 years we found a reduced ability to recognize unfamiliar faces in the high-risk group that was not specific to those children who received an ASD diagnosis, consistent with face recognition difficulties being an endophenotype of the disorder. Furthermore, we found that longer looking at faces at 7 months was associated with poorer performance on the face recognition task at 3 years in the high-risk group. These findings suggest that longer looking at faces in infants at risk for ASD might reflect early face-processing difficulties and predicts difficulties with recognizing faces later in life.
C1 [de Klerk, Carina C. J. M.; Gliga, Teodora; Johnson, Mark H.] Univ London, Birbeck Coll, Ctr Brain & Cognit Dev, London WC1E 7HX, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, London, England.
RP de Klerk, CCJM (reprint author), Univ London, Birbeck Coll, Ctr Brain & Cognit Dev, Henry Wellcome Bldg, London WC1E 7HX, England.
EM c.deklerk@bbk.ac.uk
RI Pickles, Andrew/A-9625-2011
OI Pickles, Andrew/0000-0003-1283-0346
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NR 64
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1363-755X
EI 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JUL
PY 2014
VL 17
IS 4
BP 596
EP 611
DI 10.1111/desc.12141
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AK0OU
UT WOS:000338114300009
PM 24314028
ER
PT J
AU Bedford, R
Pickles, A
Gliga, T
Elsabbagh, M
Charman, T
Johnson, MH
AF Bedford, Rachael
Pickles, Andrew
Gliga, Teodora
Elsabbagh, Mayada
Charman, Tony
Johnson, Mark H.
CA BASIS Team
TI Additive effects of social and non-social attention during infancy
relate to later autism spectrum disorder
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID JOINT VISUAL-ATTENTION; CHILDREN; COMMUNICATION; DISENGAGEMENT; BEHAVIOR
AB Emerging findings from studies with infants at familial high risk for autism spectrum disorder (ASD), owing to an older sibling with a diagnosis, suggest that those who go on to develop ASD show early impairments in the processing of stimuli with both social and non-social content. Although ASD is defined by social-communication impairments and restricted and repetitive behaviours, the majority of cognitive theories of ASD posit a single underlying factor, which over development has secondary effects across domains. This is the first high-risk study to statistically differentiate theoretical models of the development of ASD in high-risk siblings using multiple risk factors. We examined the prediction of ASD outcome by attention to social and non-social stimuli: gaze following and attentional disengagement assessed at 13 months in low-risk controls and high-risk ASD infants (who were subsequently diagnosed with ASD at 3 years). When included in the same regression model, these 13-month measures independently predicted ASD outcome at 3 years of age. The data were best described by an additive model, suggesting that non-social attention, disengagement, and social attention as evidenced by gaze following, have a cumulative impact on ASD risk. These data argue against cognitive theories of ASD which propose that a single underlying factor has cascading effects across early development leading to an ASD outcome, and support multiple impairment models of ASD that are more consistent with recent genetic and neurobiological evidence.
C1 [Bedford, Rachael; Pickles, Andrew; Charman, Tony] Kings Coll London, Inst Psychiat, Dept Biostat, London SE5 8AF, England.
[Gliga, Teodora; Johnson, Mark H.] Univ London, Ctr Brain & Cognit Dev, Birkbeck, London WC1E 7HU, England.
[Elsabbagh, Mayada] McGill Univ, Dept Psychiat, Montreal, PQ H3A 2T5, Canada.
RP Bedford, R (reprint author), Kings Coll London, Inst Psychiat, Dept Biostat, P020,Decrespigny Pk, London SE5 8AF, England.
EM rachael.bedford@kcl.ac.uk
RI Pickles, Andrew/A-9625-2011
OI Pickles, Andrew/0000-0003-1283-0346
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NR 34
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1363-755X
EI 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JUL
PY 2014
VL 17
IS 4
BP 612
EP 620
DI 10.1111/desc.12139
PG 9
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AK0OU
UT WOS:000338114300010
PM 25089324
ER
PT J
AU Helbig, I
Swinkels, MEM
Aten, E
Caliebe, A
van 't Slot, R
Boor, R
von Spiczak, S
Muhle, H
Jahn, JA
van Binsbergen, E
van Nieuwenhuizen, O
Jansen, FE
Braun, KPJ
de Haan, GJ
Tommerup, N
Stephani, U
Hjalgrim, H
Poot, M
Lindhout, D
Brilstra, EH
Moller, RS
Koeleman, BPC
AF Helbig, Ingo
Swinkels, Marielle E. M.
Aten, Emmelien
Caliebe, Almuth
van 't Slot, Ruben
Boor, Rainer
von Spiczak, Sarah
Muhle, Hiltrud
Jaehn, Johanna A.
van Binsbergen, Ellen
van Nieuwenhuizen, Onno
Jansen, Floor E.
Braun, Kees P. J.
de Haan, Gerrit-Jan
Tommerup, Niels
Stephani, Ulrich
Hjalgrim, Helle
Poot, Martin
Lindhout, Dick
Brilstra, Eva H.
Moller, Rikke S.
Koeleman, Bobby P. C.
TI Structural genomic variation in childhood epilepsies with complex
phenotypes
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE CNV; structural genomic variation; childhood epilepsies; epileptic
encephalopathies
ID TERMINAL DELETION SYNDROME; MOLECULAR CHARACTERIZATION; 16P13.11
PREDISPOSE; CLASSIFICATION; MICRODELETIONS; AUTISM
AB A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more likely to carry a rare CNV. Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broader range of epilepsies than previously anticipated, including in patients with various brain anomalies detectable by MRI. Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies.
C1 [Helbig, Ingo; Boor, Rainer; von Spiczak, Sarah; Muhle, Hiltrud; Jaehn, Johanna A.; Stephani, Ulrich] Univ Med Ctr Schleswig Holstein UKSH, Dept Neuropediat, D-24105 Kiel, Germany.
[Swinkels, Marielle E. M.; van 't Slot, Ruben; van Binsbergen, Ellen; Poot, Martin; Lindhout, Dick; Brilstra, Eva H.; Koeleman, Bobby P. C.] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands.
[Swinkels, Marielle E. M.; de Haan, Gerrit-Jan; Lindhout, Dick] SEIN Epilepsy Inst Netherlands Fdn, Hoofddorp, Netherlands.
[Aten, Emmelien] Leiden Univ, Med Ctr, Dept Med Genet, Leiden, Netherlands.
[Caliebe, Almuth] Univ Med Ctr Schleswig Holstein UKSH, Dept Human Genet, D-24105 Kiel, Germany.
[van Nieuwenhuizen, Onno; Jansen, Floor E.; Braun, Kees P. J.] Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Clin Neurol, Utrecht, Netherlands.
[Tommerup, Niels; Moller, Rikke S.] Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark.
[Hjalgrim, Helle; Moller, Rikke S.] Danish Epilepsy Ctr, Dianalund, Denmark.
[Hjalgrim, Helle; Moller, Rikke S.] Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark.
RP Helbig, I (reprint author), Univ Med Ctr Schleswig Holstein UKSH, Dept Neuropediat, Bldg 9,Arnold Heller St 3, D-24105 Kiel, Germany.
EM i.helbig@pedneuro.uni-kiel.de
RI Poot, Martin/F-9427-2010; Stephani, Ulrich/D-1004-2010
FU EuroEPINOMICS projects within the EUROCORES framework of the European
Science Foundation; German Research Foundation (DFG HE) [5413/3-1]
FX We thank the patients and their parents for participation in this study.
This project was supported by the EuroEPINOMICS projects within the
EUROCORES framework of the European Science Foundation and funds of the
German Research Foundation (DFG HE 5413/3-1).
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NR 21
TC 3
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD JUL
PY 2014
VL 22
IS 7
BP 896
EP 901
DI 10.1038/ejhg.2013.262
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK3RP
UT WOS:000338342700011
PM 24281369
ER
PT J
AU Lee, H
Lin, MCA
Kornblum, HI
Papazian, DM
Nelson, SF
AF Lee, Hane
Lin, Meng-chin A.
Kornblum, Harley I.
Papazian, Diane M.
Nelson, Stanley F.
TI Exome sequencing identifies de novo gain of function missense mutation
in KCND2 in identical twins with autism and seizures that slows
potassium channel inactivation
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID CLOSED-STATE INACTIVATION; SPECTRUM DISORDER; K+ CHANNELS; YOUNG-ADULTS;
ION CHANNELS; EPILEPSY; KV4.2; MODULATION; PROTEIN; INDIVIDUALS
AB Numerous studies and case reports show comorbidity of autism and epilepsy, suggesting some common molecular underpinnings of the two phenotypes. However, the relationship between the two, on the molecular level, remains unclear. Here, whole exome sequencing was performed on a family with identical twins affected with autism and severe, intractable seizures. A de novo variant was identified in the KCND2 gene, which encodes the Kv4.2 potassium channel. Kv4.2 is a major pore-forming subunit in somatodendritic subthreshold A-type potassium current (I-SA) channels. The de novo mutation p.Val404Met is novel and occurs at a highly conserved residue within the C-terminal end of the transmembrane helix S6 region of the ion permeation pathway. Functional analysis revealed the likely pathogenicity of the variant in that the p.Val404Met mutant construct showed significantly slowed inactivation, either by itself or after equimolar coexpression with the wild-type Kv4.2 channel construct consistent with a dominant effect. Further, the effect of the mutation on closed-state inactivation was evident in the presence of auxiliary subunits that associate with Kv4 subunits to form I-SA channels in vivo. Discovery of a functionally relevant novel de novo variant, coupled with physiological evidence that the mutant protein disrupts potassium current inactivation, strongly supports KCND2 as the causal gene for epilepsy in this family. Interaction of KCND2 with other genes implicated in autism and the role of KCND2 in synaptic plasticity provide suggestive evidence of an etiological role in autism.
C1 [Lee, Hane; Nelson, Stanley F.] Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
[Lin, Meng-chin A.; Papazian, Diane M.] Univ Calif Los Angeles, Dept Physiol, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Mol & Med Pharmacol, Los Angeles, CA 90095 USA.
[Kornblum, Harley I.] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90095 USA.
[Nelson, Stanley F.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.
RP Nelson, SF (reprint author), Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA.
EM snelson@ucla.edu
FU P30 UCLA Muscular Dystrophy Core Center grant; National Institutes of
Health [5R01NS073871-03, 5R01GM043459-21]
FX The work was performed within the UCLA Clinical Genomics Center with
support from the P30 UCLA Muscular Dystrophy Core Center grant to S.N.,
National Institutes of Health grant 5R01NS073871-03 to S.N. and National
Institutes of Health grant 5R01GM043459-21 to D.M.P.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 55
TC 5
Z9 6
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD JUL
PY 2014
VL 23
IS 13
BP 3481
EP 3489
DI 10.1093/hmg/ddu056
PG 9
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AK0ST
UT WOS:000338126300011
PM 24501278
ER
EF