FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Cromartie, RS
Flood, WA
Luiselli, JK
AF Cromartie, R. Samuel
Flood, William A.
Luiselli, James K.
TI Graduated Exposure and Compliance Training Intervention for Blood Draw
Avoidance and Refusal in a Woman With Intellectual Disability and
Schizoaffective Disorder
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE medical avoidance; intellectual disability; graduated exposure;
compliance training
ID PROBABILITY REQUEST PROCEDURE; INCREASING COMPLIANCE;
MENTAL-RETARDATION; AUTISM; PHOBIA
AB This case report concerns a woman with intellectual disability, schizoaffective disorder, and avoidance and refusal of having her blood drawn. She required but refused blood draws to properly monitor the therapeutic dose of a necessary psychotropic medication. During intervention at a community-based habilitation setting and under simulated conditions, direct-care and supervisory staff (a) gradually exposed her to steps constituting a blood draw, (b) reinforced completed steps (praise and tokens), and (c) offered a monetary incentive to participate in an actual blood draw. Evaluated in a changing criterion design, the woman demonstrated increased compliance and eventually completed blood draws immediately following intervention, months later, and at 12- to 24-month follow-ups. We discuss implications from the case and the advantages of in vivo intervention for overcoming medical fears among people who have intellectual disability.
C1 [Cromartie, R. Samuel; Flood, William A.] May Inst, Orange Pk, FL 32073 USA.
[Luiselli, James K.] May Inst, Randolph, MA USA.
RP Flood, WA (reprint author), May Inst, 1409 Kingsley Ave,Bldg 1,Suite C, Orange Pk, FL 32073 USA.
EM wflood@mayinstitute.org
CR Conyers C, 2004, J APPL BEHAV ANAL, V37, P233, DOI 10.1901/jaba.2004.37-233
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Shabani DB, 2006, J APPL BEHAV ANAL, V39, P449, DOI 10.1901/jaba.2006.30-05
Slifer K. J., 2011, CLIN PEDIATR, V20, P1
NR 10
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 2
BP 95
EP 103
DI 10.1080/19315864.2012.750407
PG 9
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WW
UT WOS:000339712800001
ER
PT J
AU Russo-Ponsaran, NM
Berry-Kravis, E
Mckown, CA
Lipton, M
AF Russo-Ponsaran, Nicole M.
Berry-Kravis, Elizabeth
Mckown, Clark A.
Lipton, Meryl
TI A Pilot Study of Social Information Processing Skills in Girls With
Fragile X Syndrome
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; girls; social impairment; autism; social information
processing
ID AUTISM SPECTRUM DISORDERS; PROBLEM-SOLVING SKILLS; STRESSFUL LIFE
EVENTS; COMMUNICATION QUESTIONNAIRE; PROACTIVE AGGRESSION; ACADEMIC
ADJUSTMENT; PEER REJECTION; YOUNG GIRLS; CHILDREN; BOYS
AB Fragile X syndrome (FXS) is a well-described inherited cause of intellectual disability and the most common known genetic cause of autism. Social deficits in girls with FXS are not well understood. To better understand barriers to social functioning that may contribute to mental health outcomes, we administered a theoretically based social information processing (SIP) interview about challenging social situations to 11 verbal mental age-matched girls with and without FXS. We hypothesized that (a) girls with FXS have global SIP impairments and (b) less autism symptomatology is related to better SIP skills in girls with FXS. Compared to controls, girls with FXS performed significantly worse on an early SIP skill (problem identification). Scores on later SIP skills tended to be lower and exhibited moderate to strong effect sizes. Competency in goal generation was correlated with autistic-like communication skills. Systematic studies of SIP skills in larger cohorts of girls with FXS are warranted.
C1 [Russo-Ponsaran, Nicole M.; Mckown, Clark A.] Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, Chicago, IL USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Dept Biochem,Dept Neurol Sci, Chicago, IL USA.
[Lipton, Meryl] Rush Univ, Dept Behav Sci, Rush NeuroBehav Ctr, Dept Pediat,Dept Neurol Sci,Med Ctr, Chicago, IL USA.
RP Russo-Ponsaran, NM (reprint author), 4711 W Golf Rd,Suite 1100, Skokie, IL 60076 USA.
EM nicole_russo@rush.edu
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NR 67
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 2
BP 143
EP 168
DI 10.1080/19315864.2013.791358
PG 26
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WW
UT WOS:000339712800004
ER
PT J
AU Chan, GFC
Lai, KYC
Luk, ESL
Hung, SF
Leung, PWL
AF Chan, Grace Fong-Chun
Lai, Kelly Yee-Ching
Luk, Ernest Siu-Luen
Hung, Se-Fong
Leung, Patrick Wing-Leung
TI Clinical utility of the Chinese Strengths and Weaknesses of
ADHD-Symptoms and Normal-Behaviors questionnaire (SWAN) when compared
with DISC-IV
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE ADHD; SWAN; DISC-IV; validity
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PARENT RATING-SCALE;
DEFICIT-HYPERACTIVITY DISORDER; DIAGNOSTIC INTERVIEW SCHEDULE; AUTISM
SPECTRUM DISORDERS; PSYCHOMETRIC PROPERTIES; CRITERION VALIDITY;
GENDER-DIFFERENCES; HONG-KONG; CHILDREN
AB Background: Attention-deficit/hyperactivity disorder (ADHD) is a common and impairing child and adolescent psychiatric disorder. Early identification and prompt treatment are essential. Rating scales are commonly used by clinicians and researchers to assess ADHD children.
Objective: In the current study, we aimed to examine the clinical utility of the Chinese version of the Strengths and Weaknesses of ADHD Symptoms and Normal Behaviors (SWAN) questionnaire. We validated its subscale scores against the Diagnostic Interview Schedule for Children Version IV (DISC-IV) and looked into its ability to identify ADHD in a psychiatric clinic setting. We also tested age and gender effects on SWAN scores. Specific subscale cutoff scores of SWAN were subsequently determined.
Method: A total of 290 children aged 6-12 years old studying in local mainstream primary schools were recruited from a clinic setting and interviewed with the parent version of DISC-IV. Their parents and teachers completed the corresponding version of SWAN.
Results: Both parent and teacher versions of SWAN were found to have good concurrent validity with DISC-IV. It could identify ADHD well in a clinic sample. Gender-specific cutoff scores were determined. Sensitivities and specificities were found to be satisfactory. SWAN was also found to perform equally well in identifying ADHD in those with and without comorbid Autistic Spectrum Disorder.
Conclusion: SWAN was proven to be a useful tool to aid the assessment of ADHD in a clinic sample.
C1 [Chan, Grace Fong-Chun] Chinese Univ Hong Kong, Alice Ho Miu Ling Nethersole Hosp, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China.
[Lai, Kelly Yee-Ching; Hung, Se-Fong] Chinese Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China.
[Leung, Patrick Wing-Leung] Chinese Univ Hong Kong, Clin & Hlth Psychol Ctr, Dept Psychol, Hong Kong, Hong Kong, Peoples R China.
RP Chan, GFC (reprint author), Alice Ho Miu Ling Nethersole Hosp, Dept Psychiat, 11 Chuen Rd, Hong Kong, Hong Kong, Peoples R China.
EM gracygracie@yahoo.com.hk
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
American Psychiatric Association, 2013, DIAGN STAT MAN MANT
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NR 31
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 1533
EP 1542
DI 10.2147/NDT.S65879
PG 10
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN5GL
UT WOS:000340618600001
PM 25187717
ER
PT J
AU Shaheen, S
AF Shaheen, Sandra
TI How Child's Play Impacts Executive Function-Related Behaviors
SO APPLIED NEUROPSYCHOLOGY-CHILD
LA English
DT Article
DE executive function; interventions; play; self-regulation; TEAMS; Tools
of the Mind
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; YOUNG-CHILDREN; SPECTRUM
DISORDERS; PRESCHOOL-CHILDREN; BRAIN GYM(R); ADHD; INTERVENTION; AUTISM;
TRIAL; OLD
AB Executive functions refer to an array of organizing and self-regulating behaviors often associated with maturation of the prefrontal cortex. In fact, young children with rudimentary neurodevelopment of the prefrontal cortex develop ways to inhibit impulses and regulate behavior from a very early age. Can executive functioning be impacted by intervention, practice, or training? What interventions impact development of executive function in childhood, and how can these be studied? Several programs are reviewed that propose to positively impact executive/self-regulation skills. Evidence-based programs are contrasted with popular programs that have little empirical basis but have apparent wide acceptance by educators and families. As self-regulation has critical implications for later school and life success, interventions may well attenuate the negative consequences of attention-deficit hyperactivity disorder, brain injury, and social stressors. Programs with active play components may be more successful in eliciting improved executive function (defined here as self-regulation) because of the importance of motor learning early on and because of the social motivation aspects of learning. Caution is advised in the recommendation of programs where there is little empirical basis to support program claims. Carefully planned outcome studies can help bring the most effective components of programs to the mainstream.
C1 [Shaheen, Sandra] Boston Childrens Hosp, Dept Psychol, Boston, MA USA.
[Shaheen, Sandra] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
RP Shaheen, S (reprint author), 319 Longwood Ave, Boston, MA 02115 USA.
EM longwoodneuro@earthlink.net
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NR 46
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 2162-2965
EI 2162-2973
J9 APPL NEUROPSYCH-CHIL
JI Appl. Neuropsychol.-Child
PY 2014
VL 3
IS 3
SI SI
BP 182
EP 187
DI 10.1080/21622965.2013.839612
PG 6
WC Clinical Neurology; Psychology
SC Neurosciences & Neurology; Psychology
GA AM8SM
UT WOS:000340147400004
PM 25010084
ER
PT J
AU Isquith, PK
Roth, RM
Kenworthy, L
Gioia, G
AF Isquith, Peter K.
Roth, Robert M.
Kenworthy, Lauren
Gioia, Gerard
TI Contribution of Rating Scales to Intervention for Executive Dysfunction
SO APPLIED NEUROPSYCHOLOGY-CHILD
LA English
DT Article
DE executive function; intervention; measurement
ID TRAUMATIC BRAIN-INJURY; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM
SPECTRUM DISORDERS; HIGH-FUNCTIONING CHILDREN; DEFICIT HYPERACTIVITY
DISORDER; PERFORMANCE-BASED MEASURES; LISDEXAMFETAMINE DIMESYLATE;
CLINICAL-TRIAL; ECOLOGICAL VALIDITY; ASPERGERS-SYNDROME
AB Executive dysfunction is present in children, adolescents, and adults with a wide range of clinical conditions. A growing body of literature has demonstrated the usefulness of rating scales designed to gauge executive functioning in everyday life. In this article, we discuss evidence supporting the use of such rating scales to assess intervention outcome, how they may inform development of interventions, and how comparing rater perspectives can assess awareness of cognitive dysfunction. We provide an example of how an executive function rating scale helped define intervention targets and measured outcomes in a recently published real-world intervention for children with autism spectrum disorder. Rating scales of executive function provide valuable information with respect to treatment planning and assessment of intervention outcome.
C1 [Isquith, Peter K.; Roth, Robert M.] Geisel Sch Med Dartmouth, Dept Psychiat, Neuropsychol Program, Lebanon, NH 03756 USA.
[Kenworthy, Lauren] George Washington Univ, Sch Med, Div Pediat Neuropsychol, Rockville, MD USA.
[Gioia, Gerard] Childrens Natl Med Ctr, Div Neuropsychol, Washington, DC 20010 USA.
RP Isquith, PK (reprint author), Geisel Sch Med Dartmouth, Dept Psychiat, Neuropsychol Program, One Med Ctr Dr, Lebanon, NH 03756 USA.
EM peter.isquith@gmail.com
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NR 68
TC 5
Z9 5
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 2162-2965
EI 2162-2973
J9 APPL NEUROPSYCH-CHIL
JI Appl. Neuropsychol.-Child
PY 2014
VL 3
IS 3
SI SI
BP 197
EP 204
DI 10.1080/21622965.2013.870014
PG 8
WC Clinical Neurology; Psychology
SC Neurosciences & Neurology; Psychology
GA AM8SM
UT WOS:000340147400006
PM 24559500
ER
PT J
AU Runswick-Cole, K
AF Runswick-Cole, Katherine
TI 'Us' and 'them': the limits and possibilities of a 'politics of
neurodiversity' in neoliberal times
SO DISABILITY & SOCIETY
LA English
DT Article
DE neurodiversity; neoliberalism; identity; politics
ID DISABILITY; MODEL
AB The neurodiversity movement claims that there are neurological differences in the human population, and that autism is a natural variation among humans not a disease or a disorder, just 'a difference'. A 'politics of neurodiversity' is based on the claim that the 'neurodiverse' population constitutes a political grouping comparable with those of class, gender, sexuality or race. This paper considers the limits and possibilities of neurodiverse political activism, and concludes by calling for a politics of identity that does not depend on a politics of 'us' and 'them'.
C1 Manchester Metropolitan Univ, Res Inst Hlth & Social Change, Manchester M15 6BH, Lancs, England.
RP Runswick-Cole, K (reprint author), Manchester Metropolitan Univ, Res Inst Hlth & Social Change, Manchester M15 6BH, Lancs, England.
EM k.runswick-cole@mmu.ac.uk
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NR 37
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PY 2014
VL 29
IS 7
BP 1117
EP 1129
DI 10.1080/09687599.2014.910107
PG 13
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AN0EB
UT WOS:000340254800010
ER
PT J
AU Cronin, KA
AF Cronin, Kathleen A.
TI The Relationship Among Oral Language, Decoding Skills, and Reading
Comprehension in Children with Autism
SO EXCEPTIONALITY
LA English
DT Article
ID ACADEMIC-ACHIEVEMENT; SPECTRUM DISORDERS; POOR COMPREHENDERS;
IMPAIRMENT; READERS; DISABILITIES; INDIVIDUALS; HYPERLEXIA; ABILITIES;
PATTERNS
AB The purpose of this study was to examine the relationship among oral language, decoding, and reading comprehension for children with autism. Participants included 13 English-speaking children with a diagnosis of high-functioning autism (IQ > 70) who were included in a typical classroom, and who had parents who spoke English. Parts of the Clinical Evaluation of Language Fundamentals, OWLS: Listening Comprehension, and the Peabody Picture Vocabulary Test were administered to measure oral language abilities, and parts of the Woodcock Reading Mastery Test and Test of Word Reading Efficiency were given to assess decoding and reading comprehension. Results indicated there was no significant relationship between phonology and decoding, but there was a significant relationship between semantics and decoding. There were also significant relationships between semantics and comprehension and syntax and comprehension.
C1 [Cronin, Kathleen A.] New Mexico State Univ, Las Cruces, NM 88003 USA.
RP Cronin, KA (reprint author), New Mexico State Univ, Dept Special Educ & Commun Disorders, MSC 3SPE,POB 30001, Las Cruces, NM 88003 USA.
EM kacronin@nmsu.edu
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NR 40
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0936-2835
EI 1532-7035
J9 EXCEPTIONALITY
JI Exceptionality
PY 2014
VL 22
IS 3
BP 141
EP 157
DI 10.1080/09362835.2013.865531
PG 17
WC Education, Special
SC Education & Educational Research
GA AM8VI
UT WOS:000340155800002
ER
PT J
AU Graff, HJ
Berkeley, S
Evmenova, AS
Park, KL
AF Graff, Heidi J.
Berkeley, Sheri
Evmenova, Anya S.
Park, Kristy L.
TI Trends in Autism Research: A Systematic Journal Analysis
SO EXCEPTIONALITY
LA English
DT Article
ID DSM-5 DIAGNOSTIC-CRITERIA; SINGLE-SUBJECT RESEARCH; SPECIAL-EDUCATION;
SPECTRUM DISORDERS; IV-TR; PREVALENCE; CHILDREN; DESIGNS; STRESS
AB Autism Spectrum Disorder (ASD) is a lifelong disability for which prevalence rates continue to increase. Persons with ASD vary widely in both severity of disability and services required. Therefore it is important to identify trends in research and evaluate progress in the field. The current study uses a journal analysis to evaluate research over a 12 year period in three prominent autism focused research journals: Focus on Autism and Other Developmental Disabilities, Autism: The International Journal of Research and Practice, and Journal of Autism and Developmental Disorders. Findings include identification of trends in research designs, sample characteristics, and interventions.
C1 [Graff, Heidi J.; Berkeley, Sheri; Evmenova, Anya S.; Park, Kristy L.] George Mason Univ, Fairfax, VA 22030 USA.
RP Berkeley, S (reprint author), George Mason Univ, 110A Krug Hall,MSN 1F2, Fairfax, VA 22030 USA.
EM sberkele@gmu.edu
CR [Anonymous], 2012, FACTS AUT
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Centers for Disease Control and Prevention, 2009, PREV AUT SPECTR DIS
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NR 50
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0936-2835
EI 1532-7035
J9 EXCEPTIONALITY
JI Exceptionality
PY 2014
VL 22
IS 3
BP 158
EP 172
DI 10.1080/09362835.2013.865532
PG 15
WC Education, Special
SC Education & Educational Research
GA AM8VI
UT WOS:000340155800003
ER
PT J
AU Ishii, M
Matsuda, N
AF Ishii, Miyuki
Matsuda, Nobuko
TI CHALLENGES OF PUBLIC HEALTH NURSES IN COORDINATING RELATIONSHIPS: SCALE
DEVELOPMENT
SO SOCIAL BEHAVIOR AND PERSONALITY
LA English
DT Article
DE autism spectrum disorder; challenges; public health nurses; relationship
coordination
ID CONTENT VALIDITY; AUTISM SPECTRUM; DISORDERS; JAPAN; PREVALENCE;
CHILDREN; POPULATION; IMPACT
AB We developed a scale for measuring the challenges faced by public health nurses in coordinating relationships for supporting preschool children with autism spectrum disorder, and examined the scale's construct validity using a factorial structure model. Participants were 708 Japanese public health nurses. The secondary structural model consisted of 6 factors with 25 items. Internal consistency and reliability were high and confirmatory factor analysis using structural equation modeling indicated that the fit criteria were statistically significant. Attributes of public health nurses were significantly related to scale scores. These findings validate the efficacy of our scale to identify and assess the challenges of public health nurses in relationship coordination.
C1 [Ishii, Miyuki; Matsuda, Nobuko] Kobe Univ, Grad Sch Hlth Sci, Fac Hlth Sci, Suma Ku, Kobe, Hyogo 6540142, Japan.
RP Ishii, M (reprint author), Kobe Univ, Grad Sch Hlth Sci, Fac Hlth Sci, Suma Ku, 7-10-2 Tomogaoka, Kobe, Hyogo 6540142, Japan.
EM k-miyuki@person.kobe-u.ac.jp
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NR 39
TC 0
Z9 0
PU SOC PERSONALITY RES INC
PI PALMERSTON NORTH
PA P O BOX 1539, PALMERSTON NORTH 5330, NEW ZEALAND
SN 0301-2212
EI 1179-6391
J9 SOC BEHAV PERSONAL
JI Soc. Behav. Pers.
PY 2014
VL 42
IS 6
BP 1029
EP 1045
DI 10.2224/sbp.2014.42.6.1029
PG 17
WC Psychology, Social
SC Psychology
GA AM8FU
UT WOS:000340108500015
ER
PT J
AU Wang, SS
Wei, DT
Li, WF
Li, HJ
Wang, KC
Xue, S
Zhang, QL
Qiu, J
AF Wang, ShanShan
Wei, DongTao
Li, WenFu
Li, HaiJiang
Wang, KangCheng
Xue, Song
Zhang, Qinglin
Qiu, Jiang
TI A voxel-based morphometry study of regional gray and white matter
correlate of self-disclosure
SO SOCIAL NEUROSCIENCE
LA English
DT Article
DE Self-disclosure; Jourard Self-Disclosure Questionnaire (JSDQ);
Voxel-based morphometry (VBM); Regional gray matter volume (rGMV);
Regional white matter volume (rWMV)
ID ORBITOFRONTAL CORTEX; POSTCENTRAL-GYRUS; SOCIAL COGNITION; LIFE-SPAN;
BRAIN; INTELLIGENCE; AUTISM; FMRI; EXPERIENCE; BEHAVIOR
AB Self-disclosure is an important performance in human social communication. Generally, an individual is likely to have a good physical and mental health if he is prone to self-disclosure under stressful life events. However, as for now, little is known about the neural structure associated with self-disclosure. Therefore, in this study, we used voxel-based morphometry to explore regional gray matter volume (rGMV) and white matter volume (rWMV) associated with self-disclosure measured by the Jourard Self-disclosure Questionnaire in a large sample of college students. Results showed that individual self-disclosure was significantly and positively associated with rGMV of the left postcentral gyrus, which might be related to strengthen individual's ability of body feeling; while self-disclosure was significantly and negatively associated with rGMV of the right orbitofrontal cortex (OFC), which might be involved in increased positive emotion experience seeking (intrinsically rewarding). In addition, individual self-disclosure was also associated with smaller rWMV in the right inferior parietal lobule (IPL). These findings suggested a biological basis for individual self-disclosure, distributed across different gray and white matter areas of the brain.
C1 [Wang, ShanShan; Wei, DongTao; Li, WenFu; Li, HaiJiang; Wang, KangCheng; Xue, Song; Zhang, Qinglin; Qiu, Jiang] Minist Educ, Key Lab Cognit & Personal SWU, Chongqing, Peoples R China.
[Wang, ShanShan; Wei, DongTao; Li, WenFu; Li, HaiJiang; Wang, KangCheng; Xue, Song; Zhang, Qinglin; Qiu, Jiang] Southwest Univ, Dept Psychol, Chongqing 400715, Peoples R China.
RP Qiu, J (reprint author), Southwest Univ, Dept Psychol, 2 TianSheng Rd, Chongqing 400715, Peoples R China.
EM qiuj318@swu.edu.cn
FU National Natural Science Foundation of China [31271087]; Program for New
Century Excellent Talents in University; Ministry of Education; Program
for the Top Young Talents by Chongqing; Fundamental Research Funds for
the Central Universities, China [SWU1209101]; Chongqing Postdoctoral
Science Foundation [2012M510098, XM2012006]
FX This research was supported by the National Natural Science Foundation
of China [31271087], the Program for New Century Excellent Talents in
University (2011) by the Ministry of Education, the Program for the Top
Young Talents by Chongqing, the Fundamental Research Funds for the
Central Universities [SWU1209101], China, and Chongqing Postdoctoral
Science Foundation funded project [2012M510098; XM2012006]. The authors
declare no conflict of interest.
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NR 74
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1747-0919
EI 1747-0927
J9 SOC NEUROSCI-UK
JI Soc. Neurosci.
PY 2014
VL 9
IS 5
BP 495
EP 503
DI 10.1080/17470919.2014.925502
PG 9
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AM9GY
UT WOS:000340190300005
PM 24899238
ER
PT J
AU Janssen, G
van Aken, L
De Mey, H
Witteman, C
Egger, J
AF Janssen, Gwenny
van Aken, Loes
De Mey, Hubert
Witteman, Cilia
Egger, Jos
TI Decline of Executive Function in a Clinical Population: Age,
Psychopathology, and Test Performance on the Cambridge
Neuropsychological Test Automated Battery (CANTAB)
SO APPLIED NEUROPSYCHOLOGY-ADULT
LA English
DT Article
DE aging; psychopathology; tests
ID COGNITIVE DECLINE; LARGE-SAMPLE; SCHIZOPHRENIA; LIFE; INSTRUMENTS;
DYSFUNCTION; VOLUNTEERS; AUTISM; ISSUES
AB This study presents a cross-sectional examination of the age-related executive changes in a sample of adults with a history of psychiatric illness using the Cambridge Neuropsychological Test Automated Battery. A total of 406 patients, aged 18 to 72 years old, completed executive function tests of working memory, strategic planning, and set shifting. Using current Diagnostic and Statistical Manual for Mental Disorders-Fourth Edition criteria, patients were diagnosed with: (a) affective disorders (N = 153), (b) substance-related disorders (N = 112), (c) personality disorders (N = 82), or (d) pervasive developmental disorders (N = 59). Test performances were compared to those of 52 healthy adults. Similar rates of age-related executive decline were found for patients and healthy participants. However, as adults with a history of psychiatric illness started out with significantly lower baseline levels of executive functioning, they may require less time before reaching a critical threshold where functional deficits emerge. Limitations as well as implications for future research were discussed.
C1 [Janssen, Gwenny; van Aken, Loes; Egger, Jos] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands.
[Janssen, Gwenny; van Aken, Loes; De Mey, Hubert; Witteman, Cilia; Egger, Jos] Radboud Univ Nijmegen, Inst Behav Sci, NL-6525 ED Nijmegen, Netherlands.
[Egger, Jos] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Egger, Jos] Pro Persona, Pompe Inst Forens Psychiat, Nijmegen, Netherlands.
RP Janssen, G (reprint author), Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, Stn Weg 46, NL-5803 AC Venray, Netherlands.
EM gjanssen@vvgi.nl
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NR 48
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0908-4282
EI 1532-4826
J9 APPL NEUROPSYCH-ADUL
JI Appl. Neuropsychol.-Adult
PY 2014
VL 21
IS 3
BP 210
EP 219
DI 10.1080/09084282.2013.793191
PG 10
WC Clinical Neurology; Psychology
SC Neurosciences & Neurology; Psychology
GA AM9VN
UT WOS:000340229200005
PM 25084845
ER
PT J
AU Burgoyne, L
Dowling, L
Fitzgerald, A
Connolly, M
Browne, JP
Perry, IJ
AF Burgoyne, Louise
Dowling, Lisa
Fitzgerald, Anthony
Connolly, Micaela
Browne, John P.
Perry, Ivan J.
TI Parents' perspectives on the value of assistance dogs for children with
autism spectrum disorder: a cross-sectional study
SO BMJ OPEN
LA English
DT Article
ID THERAPY DOGS; SERVICE DOGS; BENEFITS; STRESS; IMPACT; CHALLENGES;
ELOPEMENT; FAMILY; TRIAL
AB Objective: While there is an emerging literature on the usefulness of assistance dogs for children with autism spectrum disorder (ASD), there is a dearth of quantitative data on the value of assistance dog interventions for the family unit and family functioning. Using previously validated scales and scales developed specifically for this study, we measured parents'/guardians' perceptions of how having an assistance dog affects: (1) child safety from environmental dangers, (2) public reception of ASD and (3) levels of caregiver strain and sense of competence. We also obtained open-ended response data from parents/guardians on benefits and constraints of having an assistance dog.
Setting: This study was based in the primary care setting, within the context of a specific accredited assistance dog centre in Ireland.
Participants: A total of 134 parents/guardians with an assistance dog, and 87 parents of children on the waiting list were surveyed.
Primary and secondary outcome measures: The primary outcome measures were scores on environmental hazards and public reception scales. The secondary outcome measures were scores on caregiver strain and competence scales.
Results: Parents/guardians of children who have ASD and an assistance dog rate their child as significantly safer from environmental dangers (p<0.001), perceive that the public act more respectfully and responsibly towards their child (p<0.001) and feel more competent about managing their child (p=0.023) compared with parents on the waiting list. There was a concentration of positive feeling towards assistance dog interventions with particular focus on safety and comfort for children, and a sense of freedom from family restrictions associated with ASD. The amount of dedication and commitment required to care for a dog were viewed as the primary constraints.
Conclusions: Our findings indicate that parents perceive that assistance dog interventions can be a valuable intervention for families with children who have ASD.
C1 [Burgoyne, Louise; Fitzgerald, Anthony; Browne, John P.; Perry, Ivan J.] Natl Univ Ireland Univ Coll Cork, Dept Epidemiol & Publ Hlth, Cork, Ireland.
[Dowling, Lisa] Natl Univ Ireland Univ Coll Cork, Sch Med, Cork, Ireland.
[Connolly, Micaela] Bros Charity Southern Serv, Cork, Ireland.
RP Burgoyne, L (reprint author), Natl Univ Ireland Univ Coll Cork, Dept Epidemiol & Publ Hlth, Cork, Ireland.
EM l.burgoyne@ucc.ie
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NR 40
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 2044-6055
J9 BMJ OPEN
JI BMJ Open
PY 2014
VL 4
IS 6
AR e004786
DI 10.1136/bmjopen-2014-004786
PG 10
WC Medicine, General & Internal
SC General & Internal Medicine
GA AM2YH
UT WOS:000339717100033
PM 24928583
ER
PT J
AU Wright, B
Marshall, D
Moore, DC
Ainsworth, H
Hackney, L
Adamson, J
Ali, S
Allgar, V
Cook, L
Dyson, L
Littlewood, E
Hargate, R
McLaren, A
McMillan, D
Trepel, D
Whitehead, J
Williams, C
AF Wright, Barry
Marshall, David
Moore, Danielle Collingridge
Ainsworth, Hannah
Hackney, Lisa
Adamson, Joy
Ali, Shehzad
Allgar, Victoria
Cook, Liz
Dyson, Lisa
Littlewood, Elizabeth
Hargate, Rebecca
McLaren, Anne
McMillan, Dean
Trepel, Dominic
Whitehead, Jo
Williams, Chris
TI Autism Spectrum Social Stories In Schools Trial (ASSSIST): study
protocol for a feasibility randomised controlled trial analysing
clinical and cost-effectiveness of Social Stories in mainstream schools
SO BMJ OPEN
LA English
DT Article
ID COMMUNICATION DEFICITS; CHILDREN; DISORDERS; INTERVENTION; BEHAVIORS;
SKILLS
AB Introduction: Current evidence suggests that Social Stories can be effective in tackling problem behaviours exhibited by children with autism spectrum disorder. Exploring the meaning of behaviour from a child's perspective allows stories to provide social information that is tailored to their needs. Case reports in children with autism have suggested that these stories can lead to a number of benefits including improvements in social interactions and choice making in educational settings.
Methods and analysis: The feasibility of clinical and cost-effectiveness of a Social Stories toolkit will be assessed using a randomised control framework. Participants (n=50) will be randomised to either the Social Stories intervention or a comparator group where they will be read standard stories for an equivalent amount of time. Statistics will be calculated for recruitment rates, follow-up rates and attrition. Economic analysis will determine appropriate measures of generic health and resource use categories for cost-effectiveness analysis. Qualitative analysis will ascertain information on perceptions about the feasibility and acceptability of the intervention.
Ethics and dissemination: National Health Service Ethics Approval (NHS; ref 11/YH/0340) for the trial protocol has been obtained along with NHS Research and Development permission from Leeds and York Partnership NHS Foundation Trust. All adverse events will be closely monitored, documented and reported to the study Data Monitoring Ethics Committee. At least one article in a peer reviewed journal will be published and research findings presented at relevant conferences.
C1 [Wright, Barry; Marshall, David; Hackney, Lisa; Hargate, Rebecca; McLaren, Anne; Whitehead, Jo; Williams, Chris] Lime Trees CAMHS, Res Team, York, N Yorkshire, England.
[Moore, Danielle Collingridge; Ali, Shehzad; Allgar, Victoria; Littlewood, Elizabeth; McMillan, Dean; Trepel, Dominic] Univ York, Dept Hlth Sci, York YO10 5DD, N Yorkshire, England.
[Ainsworth, Hannah; Adamson, Joy; Cook, Liz; Dyson, Lisa] Dept Hlth Sci, York Trials Unit, York, N Yorkshire, England.
RP Marshall, D (reprint author), Lime Trees CAMHS, Res Team, York, N Yorkshire, England.
EM d.marshall@nhs.net
FU National Institute for Health Research HTA [09/169/07]
FX This project was funded by the National Institute for Health Research
HTA (project number 09/169/07).
CR Abidin RR, 2012, PARENTING STRESS IND
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NR 26
TC 0
Z9 0
PU BMJ PUBLISHING GROUP
PI LONDON
PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
SN 2044-6055
J9 BMJ OPEN
JI BMJ Open
PY 2014
VL 4
IS 7
AR e005952
DI 10.1136/bmjopen-2014-005952
PG 6
WC Medicine, General & Internal
SC General & Internal Medicine
GA AM2ZS
UT WOS:000339720900141
PM 25009139
ER
PT J
AU Eapen, V
Crncec, R
Woolfenden, S
Blackmore, R
AF Eapen, Valsamma
Crncec, Rudi
Woolfenden, Susan
Blackmore, Roger
TI Screening for Autism Spectrum Disorders Using the PEDS and M-CHAT
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism; screening; PEDS; M-CHAT
ID PERVASIVE DEVELOPMENTAL DISORDERS; PEDIATRICIANS REPORTED PRACTICES;
MODIFIED CHECKLIST; DIAGNOSTIC-TESTS; YOUNG-CHILDREN; TODDLERS;
SURVEILLANCE; INFANTS; PARENTS; CARE
AB Early detection of autism spectrum disorders (ASD) is a prerequisite for early intervention. Questionnaires may offer a cost-effective alternative to clinician-led screening in identifying toddlers and preschoolers in primary-care settings requiring specialized ASD assessment. Parents of 97 children aged 16-60 months attending childcare centers were recruited. Parents completed the 10-item Parents' Evaluations of Developmental Status (PEDS) and an ASD screening questionnaire-the 23-item Modified Checklist for Autism in Toddlers (M-CHAT). Five percent of children required specialized ASD assessment based on their M-CHAT scores. Using a PEDS total score cutoff of 4 or more, these children were detected with an adjusted rate of 65% sensitivity and 88% specificity. These data provide some support for tiered screening with the PEDS and M-CHAT in identifying children requiring specialized ASD assessment. Given PEDS is a universally administered developmental screen in many jurisdictions, further research using PEDS and M-CHAT is warranted.
C1 [Eapen, Valsamma; Crncec, Rudi] Univ New S Wales, Acad Unit Child Psychiat, South West Sydney AUCS, Sydney, NSW, Australia.
[Eapen, Valsamma; Crncec, Rudi; Woolfenden, Susan; Blackmore, Roger] South Western Sydney Local Hlth Dist, Early Years Res Grp, Sydney, NSW, Australia.
[Woolfenden, Susan] Univ New S Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.
[Blackmore, Roger] South Western Sydney Local Hlth Dist, Dept Community Paediat, Sydney, NSW, Australia.
RP Eapen, V (reprint author), Liverpool Hosp, Acad Unit Child Psychiat, South Western Sydney Local Hlth Dist, South West Sydney AUCS,Mental Hlth Ctr Level ICAM, Locked Bag 7103, Liverpool, BC 1871, Canada.
EM v.eapen@unsw.edu.au
CR Barbaro J, 2011, J PEDIATR NURS, V26, P334, DOI 10.1016/j.pedn.2010.04.007
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NR 37
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 1
BP 1
EP 13
DI 10.1080/19315864.2012.704489
PG 13
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WU
UT WOS:000339712600001
ER
PT J
AU Neal, D
Matson, JL
Hattier, MA
AF Neal, Daniene
Matson, Johnny L.
Hattier, Megan A.
TI Validity of the Autism Spectrum Disorder Observation for Children
(ASD-OC)
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism; ASD-OC; validity; child
ID DIAGNOSTIC OBSERVATION SCHEDULE; PERVASIVE DEVELOPMENTAL DISORDERS;
YOUNG-CHILDREN; FOLLOW-UP; CLINICAL-ASSESSMENT; OBSERVATION SYSTEM;
OBSERVATION SCALE; CHILDHOOD AUTISM; RATING-SCALE; BEHAVIOR
AB The Autism Spectrum Disorder Observation for Children (ASD-OC) is a 45-item observation scale used to assess autistic symptomatology. The reliability of this measure has been established in previous research; therefore, the purpose of this study is to evaluate its validity among a sample of children (1-15 years). The large correlation between the ASD-OC and Childhood Autism Rating Scale (CARS) total scores was significant (r = .83), establishing convergent validity for the ASD-OC. To determine divergent validity, the correlation between the ASD-OC total score and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Daily Living Skills domain score was analyzed. Although this negative correlation was significant (r = -.43), autistic symptom severity has previously been shown to adversely affect daily living skills. Finally, diagnostic groups (i.e., ASD, atypically developing, typically developing) were compared on ASD-OC total scores to establish criterion validity. The ASD group demonstrated significantly higher scores, indicating greater impairment than both the atypically and typically developing groups. ASD-OC scores were also examined by age group (i.e., < 36 months; >= 36 months). The implications of these results, as well as directions for future research, are discussed.
C1 [Neal, Daniene; Matson, Johnny L.; Hattier, Megan A.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM johnmatson@aol.com
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NR 63
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 1
BP 14
EP 33
DI 10.1080/19315864.2012.704490
PG 20
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WU
UT WOS:000339712600002
ER
PT J
AU Muller, CM
Gmunder, L
AF Mueller, Christoph Michael
Gmuender, Lena
TI An Evaluation of the "Reading the Mind in the Eyes-Test" With Seventh to
Ninth Graders
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism; facial processing; theory of mind; psychometric evaluation;
Reading the Mind in the Eyes-Test
ID ASPERGER-SYNDROME; AUTISM; CHILDREN; EMPATHY; ADULTS
AB Individuals with autism spectrum disorders are often considered to have difficulty with using facial cues (e. g., cues from the eye region) to understand others' mental states. One of the pioneering assessments to test competence in this skill is the "Reading the Mind in the Eyes-Test" (RMET). In order to find out more about the psychometric properties of the instrument and to provide reference data from typically developing individuals, the child version of the RMET (28 items) was conducted with 596 typically developing students attending grades 7 to 9. The score distribution was negatively skewed and correct answers ranged from 6 to 27 (M = 17.8, SD = 3.5). Given that the internal consistency of the RMET (alpha = .53) was low and item-total correlations were not satisfactory, gender and grade differences found in this sample should be interpreted cautiously. The findings are discussed in reference to previous studies using the RMET and their relevance for clinical practice.
C1 [Mueller, Christoph Michael; Gmuender, Lena] Univ Fribourg, Dept Special Educ, CH-1700 Fribourg, Switzerland.
RP Muller, CM (reprint author), Univ Fribourg, Dept Special Educ, Petrus Kanisius Gasse 21, CH-1700 Fribourg, Switzerland.
EM christoph.mueller2@unifr.ch
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NR 20
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 1
BP 34
EP 44
DI 10.1080/19315864.2012.714055
PG 11
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WU
UT WOS:000339712600003
ER
PT J
AU Mandelberg, J
Laugeson, EA
Cunningham, TD
Ellingsen, R
Bates, S
Frankel, F
AF Mandelberg, Josh
Laugeson, Elizabeth Ann
Cunningham, Tina D.
Ellingsen, Ruth
Bates, Shannon
Frankel, Fred
TI Long-Term Treatment Outcomes for Parent-Assisted Social Skills Training
for Adolescents With Autism Spectrum Disorders: The UCLA PEERS Program
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE social skills; autism; Asperger's disorder; PEERS; long-term outcomes;
adolescents
ID HIGH-FUNCTIONING CHILDREN; ASPERGER-SYNDROME; INTERVENTIONS;
FRIENDSHIPS; BEHAVIOR; IMPROVE
AB Social deficits are a hallmark characteristic among adolescents with autism spectrum disorders (ASD), yet few evidence-based interventions exist aimed at improving social skills for this population, and none have examined the maintenance of treatment gains years after the intervention has ended. This study examines the durability of the Program for the Education and Enrichment of Relational Skills (PEERS), a manualized, parent-assisted social skills intervention for high-functioning adolescents with ASD. Targeted skills related to the development and maintenance of friendships were assessed 1-5 years following treatment for 53 adolescent participants and their parents. Results indicate that adolescents receiving PEERS maintained treatment gains at long-term follow-up on standardized measures of social functioning including the Social Skills Rating System and the Social Responsiveness Scale as well as in frequency of peer interactions and social skills knowledge. Perhaps due to parent involvement in treatment, results reveal additional improvements in social functioning at follow-up assessment.
C1 [Mandelberg, Josh] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90024 USA.
[Laugeson, Elizabeth Ann; Ellingsen, Ruth; Bates, Shannon; Frankel, Fred] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Cunningham, Tina D.] Eastern Virginia Med Sch, Grad Program Publ Hlth, Norfolk, VA USA.
RP Laugeson, EA (reprint author), Univ Calif Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90024 USA.
EM elaugeson@mednet.ucla.edu
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NR 47
TC 5
Z9 5
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 1
BP 45
EP 73
DI 10.1080/19315864.2012.730600
PG 29
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WU
UT WOS:000339712600004
ER
PT J
AU Xu, YM
Neece, CL
Parker, KH
AF Xu, Yangmu
Neece, Cameron L.
Parker, Kathleen H.
TI Parental Depression and Child Behavior Problems: A Pilot Study Examining
Pathways of Influence
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders (ASD); parental depression; child behavior
problems; parenting style
ID PRESCHOOL-CHILDREN; MENTAL-HEALTH; INTELLECTUAL DISABILITY;
PSYCHIATRIC-DISORDERS; MATERNAL DEPRESSION; DEVELOPMENTAL DELAY;
SPECTRUM DISORDERS; COPING STRATEGIES; DOWN-SYNDROME; MOTHERS
AB Parents of children with autism spectrum disorders (ASD) have higher rates of depressive symptoms than parents of typically developing children and parents of children with other developmental disorders. Parental depressive symptoms are strongly associated with problem behaviors in children; however, the mechanisms through which parental depression influences child behavior in families of children with ASD are unclear. The purpose of this study was to examine the relationship between parental depression and child behavior problems among families of children with ASD, more specifically to investigate the mediating variables that may explain the processes through which parental depression and child behavior problems are associated. The sample consisted of 33 parents of children with ASD (ages 2 to 5 years old). Findings suggested that authoritative parenting style significantly mediated the relationship between parental depression and behavior problems. This study highlights the importance of considering parental mental health and its impact on parenting behavior in interventions targeting child behavior problems.
C1 [Xu, Yangmu; Neece, Cameron L.; Parker, Kathleen H.] Loma Linda Univ, Dept Psychol, Loma Linda, CA 92350 USA.
RP Xu, YM (reprint author), Loma Linda Univ, Dept Psychol, 11130 Anderson St, Loma Linda, CA 92350 USA.
EM yaxu@llu.edu
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NR 65
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 2
BP 126
EP 142
DI 10.1080/19315864.2013.787479
PG 17
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WW
UT WOS:000339712800003
ER
PT J
AU Russo-Ponsaran, NM
Evans-Smith, B
Johnson, JK
Mckown, C
AF Russo-Ponsaran, Nicole M.
Evans-Smith, Bernadette
Johnson, Jason K.
Mckown, Clark
TI A Pilot Study Assessing the Feasibility of a Facial Emotion Training
Paradigm for School-Age Children With Autism Spectrum Disorders
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; facial emotion recognition; training;
intervention; imitation; expression; accuracy; speed
ID COMPUTER-ASSISTED-INSTRUCTION; AFFECT RECOGNITION; DEVELOPMENTAL
DISORDERS; SOCIAL COMPETENCE; INDIVIDUALS; FACES; SCHIZOPHRENIA;
INTERVENTION; EXPRESSIONS; IMPAIRMENTS
AB Many children with autism spectrum disorders (ASDs) demonstrate facial emotion recognition and expression impairments. These impairments may contribute to social disability and may put children with ASDs at risk for developing further mental health problems. In this pilot study, we examined the use of a coach-and computer-assisted facial emotion training program for children with ASDs. The intervention components focused on (a) increasing attention to relevant facial emotion cues, (b) increasing facial emotion recognition speed, and (c) using imitation to build skills of facial emotion expression. Three pilot participants demonstrated improved facial emotion recognition (accuracy and speed) of dynamic and static presentations of facial expressions and self-expression. Some improvements persisted 5 weeks after training. Results support the acceptability and feasibility of the training program. These preliminary findings are promising and suggest the need for replication with larger samples and further assessment of acceptability, feasibility, and efficacy.
C1 [Russo-Ponsaran, Nicole M.; Evans-Smith, Bernadette; Johnson, Jason K.; Mckown, Clark] Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, Chicago, IL USA.
RP Russo-Ponsaran, NM (reprint author), 4711 W Golf Rd,Suite 1100, Skokie, IL 60076 USA.
EM nicole_russo@rush.edu
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Sinzig J, 2008, EUR CHILD ADOLES PSY, V17, P63, DOI 10.1007/s00787-007-0637-9
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Stichter JP, 2010, J AUTISM DEV DISORD, V40, P1067, DOI [10.1007/s10803-010-0959-1, 10.1007/s10803-010-0968-0]
Tardif C, 2007, J AUTISM DEV DISORD, V37, P1469, DOI 10.1007/s10803-006-0223-x
Wechsler D, 1999, WECHSLER ABBREVIATED
Weiner S. G., 2006, EMOTION PROCESSING C
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NR 53
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 2
BP 169
EP 190
DI 10.1080/19315864.2013.793440
PG 22
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2WW
UT WOS:000339712800005
ER
PT J
AU Hammond, RK
Hoffman, JM
AF Hammond, Rachel K.
Hoffman, Jennifer M.
TI Adolescents With High-Functioning Autism: An Investigation of Comorbid
Anxiety and Depression
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE high-functioning autism; adolescents; depression; anxiety; assessment
ID SPECTRUM DISORDERS; ASPERGER-SYNDROME; PSYCHIATRIC-DISORDERS; CHILDREN;
SYMPTOMS; CHILDHOOD; DIAGNOSIS
AB Adolescents with high-functioning autism (HFA) possess core social and pragmatic deficits, which interfere with normal relationship development. At a time when friendships are increasingly important, many adolescents with HFA realize they are different from their peers. Initial research has indicated that adolescence is the time when symptoms of anxiety and depression are most likely to develop. The purpose of this study was to increase knowledge about anxiety and depression in HFA through focusing on the adolescent development period and obtaining assessment information from multiple sources. Results indicate that adolescents reported elevated levels of social anxiety, separation panic, and anhedonia compared with normative samples. Parents and teachers reported that adolescents experienced significant overall anxiety and depressive symptomatology compared with the normative samples. Manifestations of HFA were associated with higher levels of anxiety as reported by parents. Results bring into question the validity of self-report scales for adolescents with HFA in the ability to accurately self-report and in the measures' capacity to differentiate between internalizing symptoms and core HFA behaviors.
C1 [Hammond, Rachel K.; Hoffman, Jennifer M.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
RP Hammond, RK (reprint author), Univ Kentucky, Dept Educ Sch & Counseling Psychol, 170 G Taylor Educ Bldg, Lexington, KY 40506 USA.
EM rachel.hammond@uky.edu
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NR 47
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 3
BP 246
EP 263
DI 10.1080/19315864.2013.843223
PG 18
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2XB
UT WOS:000339713400004
ER
PT J
AU Feldman, BH
Dimitropoulos, A
AF Feldman, Benjamin H.
Dimitropoulos, Anastasia
TI Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum
Disorder
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE Prader-Willi syndrome; autism spectrum disorder; face processing
ID MATERNAL UNIPARENTAL DISOMY; MENTAL-RETARDATION; FACIAL EXPRESSION;
DEVELOPMENTAL DISORDERS; MALADAPTIVE BEHAVIOR; SOCIAL COMPETENCE;
PROXIMAL 15Q; RECOGNITION; CHILDREN; BRAIN
AB Individuals with Prader-Willi Syndrome (PWS) are at risk for autism spectrum disorder (ASD), including socialization problems. The PWS chromosome 15q11-13 maternal uniparental disomy (mUPD) subtype displays greater ASD symptoms than the paternal deletion (DEL) subtype. Since interpreting faces leads to successful socialization, we compared face discrimination in PWS with ASD to explore the socialization characteristics of these disorders. Although face processing impairment in ASD is well documented, PWS face processing research is limited. Forty-four PWS participants (14 DEL and 19 mUPD) and 17 participants with ASD were measured on face discrimination. PWS and ASD participants scored in the impaired functioning range. For primary findings, DEL and mUPD PWS genetic subtype groups did not differ. These findings suggest PWS individuals, regardless of subtype, show impaired face processing similar to ASD. This research highlights the need for additional research on social cognitive functioning in PWS to understand the role of 15q11-13 in ASD.
C1 [Feldman, Benjamin H.; Dimitropoulos, Anastasia] Case Western Reserve Univ, Cleveland, OH 44106 USA.
RP Feldman, BH (reprint author), Case Western Reserve Univ, 10900 Euclid Ave, Cleveland, OH 44106 USA.
EM bhf17@case.edu
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NR 88
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1931-5864
EI 1931-5872
J9 J MENT HEALTH RES IN
JI J. Ment. Health Res. Intellect. Disabil.
PY 2014
VL 7
IS 3
BP 264
EP 285
DI 10.1080/19315864.2013.857744
PG 22
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AM2XB
UT WOS:000339713400005
ER
PT J
AU Shang, XY
Fisher, KR
AF Shang, Xiaoyuan
Fisher, Karen R.
TI Social Support for Mothers of Children With Disabilities in China
SO JOURNAL OF SOCIAL SERVICE RESEARCH
LA English
DT Article
DE Child welfare; families of children with disabilities; rights of the
child; care; mothers' responsibilities; Chinese social policy
ID REPUBLIC-OF-CHINA; AUTISM; POLICY
AB This article analyzes the gendered parenting experiences of mothers of children with disabilities in China. These mothers struggle to meet their children's needs, including daily care, financial security, and child development. In the context of China's social welfare development, are social services responding to their needs, so that mothers can share responsibility for the needs of their children with disabilities? The research analyzed qualitative data about 6 case-study children in rural and urban China. The data were derived from observation and interviews with their parents and other family and community members. The analysis revealed that the capacity of the mother, community, and local social services had an impact on the rights of the children and mothers. They experienced social discrimination, insufficient social support, and local failure to implement central policy social services and income support. These findings are consistent with international research about disability rights. They reinforce the importance of economic redistribution to enable local implementation of the national disability rights policies, rather than merely relying on ephemeral concepts of cultural change. Further research about the comparative impact of economic and social change in China on mothers and children with disabilities would extend these findings.
C1 [Shang, Xiaoyuan] Univ New S Wales, Social Policy Res Ctr, Sydney, NSW 2052, Australia.
[Fisher, Karen R.] FASS, Social Policy Res Ctr, Sydney, NSW, Australia.
RP Shang, XY (reprint author), Univ New S Wales, Social Policy Res Ctr, Sydney, NSW 2052, Australia.
EM x.shang@unsw.edu.au
CR Chen Y., 2008, STATUS ANAL STRATEGI
Chinese Disabled Persons Federation, 2006, NOT ISS SPEECH SEN O
Fisher K, 2008, DISABIL SOC, V23, P171, DOI 10.1080/09687590701841216
Fisher K. R., 2011, CHINAS CHANGING WELF, P193
Fisher K. R., 2011, SOCIAL POLICY SOC, V10, P71, DOI 10.1017/S1474746410000400
Fisher KR, 2011, SOC POLICY ADMIN, V45, P633, DOI 10.1111/j.1467-9515.2011.00799.x
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Ma H., 2002, SOCIAL WELFARE PEOPL
McCabe H, 2008, DISABIL SOC, V23, P271, DOI 10.1080/09687590801954059
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Oliver M., 1996, UNDERSTANDING DISABI
Rajivan A., 2010, POWER VOICE RIGHTS T
Ryan S, 2008, DISABIL SOC, V23, P199, DOI 10.1080/09687590801953937
Shakespeare T, 2006, DISABILITY RIGHTS WR
Shang X., 2004, J SOCIAL POLICY SOC, V3, P259
Shang X., 2011, SOCIAL POLICY SOC, V10, P103, DOI 10.1017/S1474746410000436
Shang XY, 2011, INT J SOC WELF, V20, P298, DOI 10.1111/j.1468-2397.2009.00666.x
Sung S., 2012, GENDER E ASIAN WELFA, P90
Yang W., 2010, RENMIN DAILY 0913
NR 24
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0148-8376
EI 1540-7314
J9 J SOC SERV RES
JI J. Soc. Serv. Res.
PY 2014
VL 40
IS 4
BP 573
EP 586
DI 10.1080/01488376.2014.896849
PG 14
WC Social Work
SC Social Work
GA AM6GR
UT WOS:000339962300016
ER
PT J
AU Abu-Dahab, SMN
Malkawi, SH
Nadar, MS
Al Momani, F
Holm, MB
AF Abu-Dahab, Sana M. N.
Malkawi, Somaya Hussain
Nadar, Mohammad Shaban
Al Momani, Fidaa
Holm, Margo B.
TI The Validity and Reliability of the Arabic Infant/Toddler Sensory
Profile
SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS
LA English
DT Article
DE Arabic; infant; psychometric testing; sensory processing; sensory
profile; toddler
ID OCCUPATIONAL THERAPISTS; YOUNG-CHILDREN; AUTISM; PERFORMANCE;
MODULATION; DISORDERS; BEHAVIORS; MOTOR
AB In this study, we report the translation process, validity, and reliability of the Arabic Infant/Toddler Sensory Profile (IT_SP). A multistep approach was implemented to ensure the accuracy and equivalency of the Arabic and original English IT_SP. Factor analysis indicated that item loadings for over 50% of the items on the Arabic version were identical to the English version; all but three items had logical loadings. Intraclass correlation coefficients (ICC) between scores on the Arabic and English versions reported by parents who were bilingual were >.90 supporting bilingual validity. Alpha coefficients for each section varied from .40 to .74, which was within the range of the English version (.17 to .86), and were thus similar. ICCs between scores for repeated assessments varied from .81 to .99 supporting test-retest reliability. The results support the validity and reliability of the Arabic IT_SP.
C1 [Abu-Dahab, Sana M. N.; Malkawi, Somaya Hussain] Univ Jordan, Dept Occupat Therapy, Fac Rehabil Sci, Amman 11942, Jordan.
[Nadar, Mohammad Shaban] Kuwait Univ, Fac Allied Hlth Sci, Dept Occupat Therapy, Kuwait, Kuwait.
[Al Momani, Fidaa] Jordan Univ Sci & Technol, Fac Appl Med Sci, Dept Rehabil Sci, Irbid, Jordan.
[Holm, Margo B.] Univ Pittsburgh, Sch Hlth & Rehabil Sci, Dept Occupat Therapy, Pittsburgh, PA USA.
RP Abu-Dahab, SMN (reprint author), Univ Jordan, Dept Occupat Therapy, Fac Rehabil Sci, Queen Rania Al Abdulla St, Amman 11942, Jordan.
EM s.abudahab@ju.edu.jo
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NR 26
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0194-2638
EI 1541-3144
J9 PHYS OCCUP THER PEDI
JI Phys. Occup. Ther. Pediatr.
PY 2014
VL 34
IS 3
BP 300
EP 312
DI 10.3109/01942638.2013.823474
PG 13
WC Pediatrics; Rehabilitation
SC Pediatrics; Rehabilitation
GA AL9UZ
UT WOS:000339489300006
PM 23931241
ER
PT J
AU Rayner, C
Fluck, A
AF Rayner, Christopher
Fluck, Andrew
TI Pre-service teachers' perceptions of simSchool as preparation for
inclusive education: a pilot study
SO ASIA-PACIFIC JOURNAL OF TEACHER EDUCATION
LA English
DT Article
DE autism spectrum disorder; computer simulation; inclusive education;
simSchool; teacher education
ID DISORDERS; STUDENTS; AUTISM
AB The shift towards the inclusion of students with disabilities in regular schools has meant that general classroom teachers need to be skilled in educating students with a diverse range of needs and abilities. Together with theoretical study and as a supplement to practical experience, teacher educators have begun to explore virtual and simulated classrooms to help prepare pre-service teachers for the complexity of the teaching profession. In this pilot study, we examined the perspective of pre-service teachers on a classroom simulation program called "simSchool." Two-hour-long tutorial sessions focusing on catering for student diversity and the educational needs of students with autism spectrum disorder were conducted. The pre-service teachers' responses to an 11-item questionnaire are discussed, highlighting the potential of simSchool as well as some current limitations of this approach in the context of Australian teacher education courses.
C1 [Rayner, Christopher; Fluck, Andrew] Univ Tasmania, Fac Educ, Hobart, Tas 7001, Australia.
RP Rayner, C (reprint author), Univ Tasmania, Fac Educ, Hobart, Tas 7001, Australia.
EM Christopher.Rayner@utas.edu.au
CR ACARA (Australian Curriculum and Assessment Reporting Authority), 2013, DRAFT AUSTRALIAN CUR
Allen JM, 2009, TEACH TEACH EDUC, V25, P647, DOI 10.1016/j.tate.2008.11.011
American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
Australian Institute for Teaching and School Leadership, 2011, NATIONAL PROFESSIONA
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Stella CSC, 2007, ASIA-PAC J TEACH EDU, V35, P161, DOI 10.1080/13598660701268585
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Wu WH, 2012, J COMPUT ASSIST LEAR, V28, P265, DOI 10.1111/j.1365-2729.2011.00437.x
NR 37
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1359-866X
EI 1469-2945
J9 ASIA-PAC J TEACH EDU
JI Asia-Pac. J. Teach. Educ.
PY 2014
VL 42
IS 3
BP 212
EP 227
DI 10.1080/1359866X.2014.927825
PG 16
WC Education & Educational Research
SC Education & Educational Research
GA AL3VR
UT WOS:000339059200002
ER
PT J
AU Stein, LI
Lane, CJ
Williams, ME
Dawson, ME
Polido, JC
Cermak, SA
AF Stein, Leah I.
Lane, Christianne J.
Williams, Marian E.
Dawson, Michael E.
Polido, Jose C.
Cermak, Sharon A.
TI Physiological and Behavioral Stress and Anxiety in Children with Autism
Spectrum Disorders during Routine Oral Care
SO BIOMED RESEARCH INTERNATIONAL
LA English
DT Article
ID DENTAL-PATIENTS; MANAGEMENT PROBLEMS; FEAR; GUIDANCE
AB Background. Children with autism spectrum disorders (ASD) commonly exhibit uncooperative behaviors which impede oral care. Previous studies have utilized dentist-report measures of uncooperative behaviors in children with ASD but none have utilized an objective measure of children's behavior or a physiological measure of distress. This study investigated behavioral and physiological distress in children with ASD during routine oral care and examined factors associated with this distress. Methods. Participants were 44 children (n = 22 typical, n = 22 ASD) aged 6-12 receiving routine dental cleanings. Behavioral and physiological measures of stress and anxiety were collected during dental cleanings. Results. Children with ASD exhibited greater distress, compared to the typical group, on dentist-report and researcher-coded measures of overt distress behaviors and on physiological measures. Correlations between physiological and behavioral measures of distress were found in the ASD but not in the typical group. Behavioral distress was correlated with age in the typical group and with expressive communication ability and sensory processing difficulties in the ASD group; physiological distress was correlated with parent-report of anxiety in the typical group and sensory processing difficulties in the ASD group. Conclusions. Novel strategies may be required to decrease behavioral and physiological distress in children with ASD in the dental clinic.
C1 [Stein, Leah I.; Cermak, Sharon A.] Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, Los Angeles, CA 90089 USA.
[Lane, Christianne J.] Univ So Calif, Dept Prevent Med, Div Biostat, Los Angeles, CA 90089 USA.
[Williams, Marian E.] Childrens Hosp Los Angeles, USC UCEDD, Keck Sch Med USC, Los Angeles, CA 90027 USA.
[Dawson, Michael E.] Univ So Calif, Dept Psychol, Dana & David Dornsife Coll Letters Arts & Sci, Los Angeles, CA 90089 USA.
[Polido, Jose C.] Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA.
RP Stein, LI (reprint author), Univ So Calif, Herman Ostrow Sch Dent, Div Occupat Sci & Occupat Therapy, 1540 Alcazar St,CHP 133, Los Angeles, CA 90089 USA.
EM lstein@usc.edu
FU National Institute of Dental and Craniofacial Research [1R34DE022263-01,
NCT02077985]; University of Southern California Ostrow School of
Dentistry; Eunice Kennedy Shriver National Institute of Child Health and
Human Development of the National Institutes of Health [T32HD064578]
FX This study was funded by the National Institute of Dental and
Craniofacial Research (1R34DE022263-01; ClinicalTrials. gov identifier:
NCT02077985) and by a seed grant from the University of Southern
California Ostrow School of Dentistry. This publication was also
supported by the Eunice Kennedy Shriver National Institute of Child
Health and Human Development of the National Institutes of Health
(T32HD064578). The content is solely the responsibility of the authors
and does not necessarily represent the official views of the National
Institutes of Health. The authors would also like to thank Irina Zamora,
Psy.D., for assistance in confirming diagnosis of children with ASD.
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NR 47
TC 0
Z9 0
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 2314-6133
EI 2314-6141
J9 BIOMED RES INT
JI Biomed Res. Int.
PY 2014
AR 694876
DI 10.1155/2014/694876
PG 10
WC Biotechnology & Applied Microbiology; Medicine, Research & Experimental
SC Biotechnology & Applied Microbiology; Research & Experimental Medicine
GA AL6MI
UT WOS:000339246400001
ER
PT J
AU Ianiro, G
Bibbo, S
Gasbarrini, A
Cammarota, G
AF Ianiro, Gianluca
Bibbo, Stefano
Gasbarrini, Antonio
Cammarota, Giovanni
TI Therapeutic Modulation of Gut Microbiota: Current Clinical Applications
and Future Perspectives
SO CURRENT DRUG TARGETS
LA English
DT Article
DE Antibiotics; fecal microbiota transplantation; gut microbiota;
modulation; probiotics; therapy
ID IRRITABLE-BOWEL-SYNDROME; RANDOMIZED CONTROLLED-TRIAL;
PLACEBO-CONTROLLED TRIAL; CHRONIC-FATIGUE-SYNDROME;
CLOSTRIDIUM-DIFFICILE INFECTION; LACTOBACILLUS-PLANTARUM 299V;
QUALITY-OF-LIFE; DOUBLE-BLIND; ULCERATIVE-COLITIS; INTESTINAL MICROBIOTA
AB Human beings and gut microbiota are in a symbiotic relationship, and the hypothesis of a "super organism" composed of the human organism and microbes has been recently proposed. The gut microbiota fulfills important metabolic and immunological tasks, and the impairment of its composition might alter homeostasis and lead to the development of microbiota-related diseases. The most common illnesses associated with alterations of the gut microbiota include inflammatory bowel disease, gastroenteric infections, irritable bowel syndrome and other gastrointestinal functional diseases, colorectal cancer, metabolic syndrome and obesity, liver diseases, allergic diseases, and neurological diseases such as autism. In theory, every disease associated with the impairment of intestinal microflora might benefit from the therapeutic modulation of the gut microbiota. A number of attempts to manipulate the microbiota have not produced identical results for every disease. Although antibiotics and probiotics have been available for a long time, the so-called fecal microbiota transplantation, which is a very old remedy, was only recently re-evaluated as a promising therapeutic approach for microbiota impairment. A comprehensive understanding of the gut microbiota composition, in states of both health and various diseases, is needed for the development of future approaches for microbiota modulation and for developing targeted therapies. In this review, we describe the role of the microbiota in several diseases and the related treatment options that are currently available.
C1 [Ianiro, Gianluca; Bibbo, Stefano; Gasbarrini, Antonio; Cammarota, Giovanni] A Gemelli Univ Hosp, Div Gastroenterol & Internal Med, Dept Med Sci, Rome, Italy.
RP Cammarota, G (reprint author), Catholic Univ, Inst Internal Med, Largo A Gemelli 8, I-00168 Rome, Italy.
EM gcammarota@rm.unicatt.it
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NR 151
TC 5
Z9 5
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1389-4501
EI 1873-5592
J9 CURR DRUG TARGETS
JI Curr. Drug Targets
PY 2014
VL 15
IS 8
BP 762
EP 770
PG 9
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AL5MV
UT WOS:000339178800003
PM 24909808
ER
PT J
AU Mikami, K
Onishi, Y
Matsumoto, H
AF Mikami, Katsunaka
Onishi, Yuichi
Matsumoto, Hideo
TI ATTEMPTED SUICIDE OF AN ADOLESCENT WITH AUTISM SPECTRUM DISORDER
SO INTERNATIONAL JOURNAL OF PSYCHIATRY IN MEDICINE
LA English
DT Article
DE autism spectrum disorder; suicide attempt; adolescence; emergency room
ID YOUTH SUICIDE; CHILDREN; BEHAVIOR; PREVENTION; RISK; DEPRESSION;
DIAGNOSIS; IDEATION; ADULTS
AB Although the suicide risk of autism spectrum disorder (ASD) has been suggested to be higher than previously recognized, there are few case reports focusing on the process for preventing suicide reattempts. We reported that a 17-year-old male who had attempted suicide by jumping was admitted to our emergency department and hospitalized for lumbar spine fracture. In addition to the diagnosis of adjustment disorder, he was diagnosed as ASD according to his life history. This article presents the characteristics of the suicidal behaviors and the process for preventing a suicide reattempt associated with an adolescent with ASD who attempted suicide.
C1 [Mikami, Katsunaka; Onishi, Yuichi; Matsumoto, Hideo] Tokai Univ, Sch Med, Isehara, Kanagawa 2591193, Japan.
RP Mikami, K (reprint author), Tokai Univ, Sch Med, Dept Psychiat, 143 Shimokasuya, Isehara, Kanagawa 2591193, Japan.
EM mikami@is.icc.u-tokai.ac.jp
FU Kanagawa Prefectural Government; Tokai University, Kanagawa, Japan;
Yoshitomiyakuhin Corporation; Dainippon Sumitomo Pharma Co., Ltd.;
Pfizer Inc.; Meiji Seika Pharma Co., Lt.; Janssen Pharmaceutical K.K.;
Mitsubishi Tanabe Pharma Corporation
FX Dr. Mikami was supported by Kanagawa Prefectural Government. Dr. Mikami
received a grant to participate in an international conference from
Tokai University, Kanagawa, Japan, and honoraria from Janssen
Pharmaceutical K. K., Astellas Pharma Inc., Otsuka Pharmaceutical Co.,
Ltd., Yoshitomiyakuhin Corporation, Shionogi & Co., Ltd., Dainippon
Sumitomo Pharma Co., Ltd. and Mitsubishi Tanabe Pharma Corporation. Dr.
Onishi received honoraria from Otsuka Pharmaceutical Co., Ltd., Janssen
Pharmaceutical K. K., Eli Lilly and Company. Dr. Matsumoto received
research support from Yoshitomiyakuhin Corporation, Dainippon Sumitomo
Pharma Co., Ltd., Pfizer Inc., Meiji Seika Pharma Co., Lt., Janssen
Pharmaceutical K.K., and Mitsubishi Tanabe Pharma Corporation, and
honoraria from Eli Lilly and Company, Novartis Pharma K. K.,
Yoshitomiyakuhin Corporation, GlaxoSmithKline, Dainippon Sumitomo Pharma
Co., Ltd., Pfizer Inc., Meiji Seika Pharma Co., Ltd., Otsuka
Pharmaceutical Co., Ltd., Janssen Pharmaceutical K. K., Eisai Co., Ltd.
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NR 31
TC 0
Z9 0
PU BAYWOOD PUBL CO INC
PI AMITYVILLE
PA 26 AUSTIN AVE, PO BOX 337, AMITYVILLE, NY 11701 USA
SN 0091-2174
EI 1541-3527
J9 INT J PSYCHIAT MED
JI Int. J. Psychiatr. Med.
PY 2014
VL 47
IS 3
BP 263
EP 271
DI 10.2190/PM.47.3.g
PG 9
WC Psychiatry
SC Psychiatry
GA AL7JZ
UT WOS:000339311400007
PM 25084822
ER
PT J
AU Pozo, P
Sarria, E
AF Pozo, Pilar
Sarria, Encarnacion
TI Prediction of Stress in Mothers of Children with Autism Spectrum
Disorders
SO SPANISH JOURNAL OF PSYCHOLOGY
LA English
DT Article
DE Autism spectrum disorders; maternal stress; sense of coherence; social
support; longitudinal study
ID INDEX-SHORT FORM; SOCIAL SUPPORT; BEHAVIOR-PROBLEMS; MENTAL-HEALTH;
PARENTING STRESS; DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY;
SYMPTOM SEVERITY; COHERENCE SCALE; MATERNAL STRESS
AB Raising a child with autism spectrum disorders presents families with exceptional caregiving challenges. Consequently, parents, particularly mothers, evidence unusually high stress levels. Previous research has identified relevant variables that help explain maternal stress: the child's behavior problems, social support and the sense of coherence (SOC) as a perception of problem. However, there are few longitudinal studies demonstrating how these variables correlate over time. We present a longitudinal study of 21 Spanish mothers of children with autism spectrum disorders (ASD) at two measurement time points over an interval of 4.5 years. Our aims are to examine the predictive relationships of these variables (behavior problems, social support and SOC) to stress and to analyse their changes over time. Data were collected through questionnaires. The results of the regression analysis (multiple adjusted R-2 = .45, f(2) = .82) highlight the predictive values of SOC (adjusted R-2 = .31) and the initial stress levels (Delta adjusted R-2 = .14) for stress levels 4.5-years later. Our study used t-tests to compare measurements at the two time points; results demonstrate the permanence of stress levels and behavior problems and the effects of reduced social support and increased SOC levels (t(20) = 2.48, p = .02, Cohen's d = .63; t(20) = -4.22, p < .001, Cohen' d = .58). Implications for interventions are discussed.
C1 [Pozo, Pilar; Sarria, Encarnacion] Univ Nacl Educ Distancia, E-28040 Madrid, Spain.
RP Pozo, P (reprint author), Univ Nacl Educ Distancia, Dept Psicol Evolut & Educ, Fac Psicol, Juan del Rosal 10, E-28040 Madrid, Spain.
EM ppozo@psi.uned.es
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NR 75
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1138-7416
EI 1988-2904
J9 SPAN J PSYCHOL
JI Span. J. Psychol.
PY 2014
VL 17
AR e6
DI 10.1017/sjp.2014.6
PG 12
WC Psychology, Multidisciplinary
SC Psychology
GA AL2VJ
UT WOS:000338983400001
PM 25012691
ER
PT J
AU Brent, LJN
Chang, SWC
Gariepy, JF
Platt, ML
AF Brent, Lauren J. N.
Chang, Steve W. C.
Gariepy, Jean-Francois
Platt, Michael L.
BE Kingstone, A
Miller, MB
TI The neuroethology of friendship
SO YEAR IN COGNITIVE NEUROSCIENCE
SE Annals of the New York Academy of Sciences
LA English
DT Article; Book Chapter
DE friendship; cognition; ethology; social networks; evolution
ID MACAQUES MACACA-MULATTA; WILD FEMALE BABOONS; PRIMATE ORBITOFRONTAL
CORTEX; HYENA CROCUTA-CROCUTA; MALE BONNET MACAQUES; SOCIAL NETWORK
SIZE; LONG-TERM-MEMORY; RHESUS MACAQUES; RECIPROCAL ALTRUISM; INDIVIDUAL
RECOGNITION
AB Friendship pervades the human social landscape. These bonds are so important that disrupting them leads to health problems, and difficulties forming or maintaining friendships attend neuropsychiatric disorders like autism and depression. Other animals also have friends, suggesting that friendship is not solely a human invention but is instead an evolved trait. A neuroethological approach applies behavioral, neurobiological, and molecular techniques to explain friendship with reference to its underlying mechanisms, development, evolutionary origins, and biological function. Recent studies implicate a shared suite of neural circuits and neuromodulatory pathways in the formation, maintenance, and manipulation of friendships across humans and other animals. Health consequences and reproductive advantages in mammals additionally suggest that friendship has adaptive benefits. We argue that understanding the neuroethology of friendship in humans and other animals brings us closer to knowing fully what it means to be human.
C1 [Brent, Lauren J. N.; Chang, Steve W. C.; Gariepy, Jean-Francois; Platt, Michael L.] Duke Univ, Dept Neurobiol, Durham, NC 27708 USA.
[Brent, Lauren J. N.; Chang, Steve W. C.; Gariepy, Jean-Francois; Platt, Michael L.] Duke Univ, Duke Inst Brain Sci, Ctr Cognit Neurosci, Durham, NC 27708 USA.
[Chang, Steve W. C.] Yale Univ, Dept Psychol, New Haven, CT 06520 USA.
[Platt, Michael L.] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27708 USA.
[Platt, Michael L.] Duke Univ, Dept Evolutionary Anthropol, Durham, NC 27708 USA.
RP Brent, LJN (reprint author), Duke Univ, POB 90999,450 Res Dr, Durham, NC 27708 USA.
EM lauren.brent@duke.edu
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NR 198
TC 2
Z9 2
PU BLACKWELL SCIENCE PUBL
PI OXFORD
PA OSNEY MEAD, OXFORD OX2 0EL, ENGLAND
SN 0077-8923
J9 ANN NY ACAD SCI
JI Ann.NY Acad.Sci.
PY 2014
VL 1316
BP 1
EP 17
DI 10.1111/nyas.12315
PG 17
WC Psychology, Biological; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA BA6SA
UT WOS:000337269000001
PM 24329760
ER
PT J
AU Patil, I
Silani, G
AF Patil, Indrajeet
Silani, Giorgia
TI Alexithymia increases moral acceptability of accidental harms
SO JOURNAL OF COGNITIVE PSYCHOLOGY
LA English
DT Article
DE Alexithymia; Belief; Empathy; Intention; Moral judgement
ID VENTROMEDIAL PREFRONTAL CORTEX; HIGH-FUNCTIONING AUTISM; OXYTOCIN
RECEPTOR GENE; SOCIAL EVALUATIONS; EMPATHIC BRAIN; NEURAL BASIS;
JUDGMENT; FMRI; MIND; EMOTION
AB Previous research shows that when people judge moral acceptability of others' harmful behaviour, they not only take into account information about the consequences of the act but also an actor's belief while carrying out the act. A two-process model has been proposed to account for this pattern of moral judgements and posits: (1) a causal process that detects the presence of a harmful outcome and is motivated by empathic aversion stemming from victim suffering; (2) a mental state-based process that attributes beliefs, desires, intentions, etc. to the agent in question and is motivated by imagining personally carrying out harmful actions. One prediction of this model would be that personality traits associated with empathy deficits would find accidental harms more acceptable not because they focus on innocent intentions but because they have reduced concern for the victim's well-being. In this study, we show that one such personality trait, viz. alexithymia, indeed exhibits the predicted pattern and this increased acceptability of accidental harm in alexithymia is mediated by reduced dispositional empathic concern. Results attest to the validity of two-process model of intent-based moral judgements and emphasise key role affective empathy plays in harm-based moral judgements.
C1 [Patil, Indrajeet; Silani, Giorgia] Int Super Studi Avanzati, Neurosci Sect, Trieste, Italy.
RP Patil, I (reprint author), Int Sch Adv Studies SISSA ISAS, Neurosci Sect, Via Bonomea 265, I-34136 Trieste, Italy.
EM ipatil@sissa.it
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NR 94
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 2044-5911
EI 2044-592X
J9 J COGN PSYCHOL
JI J. Cogn. Psychol.
PY 2014
VL 26
IS 5
BP 597
EP 614
DI 10.1080/20445911.2014.929137
PG 18
WC Psychology, Experimental
SC Psychology
GA AK9SV
UT WOS:000338768000010
ER
PT J
AU Nicholl, J
Waters, W
Mulley, JC
Suwalski, S
Brown, S
Hull, Y
Barnett, C
Haan, E
Thompson, EM
Liebelt, J
Mcgregor, L
Harbord, MG
Entwistle, J
Munt, C
White, D
Chitti, A
Baulderstone, D
Ketteridge, D
Friend, K
Bain, SM
Yu, S
AF Nicholl, Jillian
Waters, Wendy
Mulley, John C.
Suwalski, Shanna
Brown, Sue
Hull, Yvonne
Barnett, Christopher
Haan, Eric
Thompson, Elizabeth M.
Liebelt, Jan
Mcgregor, Lesley
Harbord, Michael G.
Entwistle, John
Munt, Chris
White, Dierdre
Chitti, Anthony
Baulderstone, David
Ketteridge, David
Friend, Kathryn
Bain, Sharon M.
Yu, Sui
CA Array Referral Consortium
TI Cognitive deficit and autism spectrum disorders: prospective diagnosis
by array CGH
SO PATHOLOGY
LA English
DT Article
DE Array CGH; autism spectrum disorders; CNV; copy number variation;
developmental delay; intellectual disability; molecular cytogenetics
ID COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION;
MENTAL-RETARDATION; MICRODELETION SYNDROME; INTELLECTUAL DISABILITY;
CONGENITAL-ANOMALIES; DEVELOPMENTAL DELAY; DUPLICATIONS; DELETIONS;
EPILEPSY
AB The aim of this study was to determine prospectively the frequency of pathogenic chromosomal microdeletions and microduplications in a large group of referred patients with developmental delay (DD), intellectual disability (ID) or autism spectrum disorders (ASD) within a genetic diagnostic service. First tier testing was applied using a standardised oligo-array comparative genomic hybridization (CGH) platform, replacing conventional cytogenetic testing that would have been used in the past. Copy number variants (CNVs) found to be responsible for the clinical condition on the request form could all be subdivided into three groups: well established pathogenic microdeletion/microduplication/aneuploidy syndromes, predicted pathogenic CNVs as interpreted by the laboratory, and recently established pathogenic disease susceptibility CNVs. Totalled from these three groups, with CNVs of uncertain significance excluded, detection rates were: DD (13.0%), ID (15.6%), ASD (2.3%), ASD with DD (8.2%), ASD with ID (12.7%) and unexplained epilepsy with DD, ID and ASD (10.9%). The greater diagnostic sensitivity arising from routine application of array CGH, compared with previously used conventional cytogenetics, outweighs the interpretative issues for the reporting laboratory and referring clinician arising from detection of CNVs of uncertain significance. Precise determination of any previously hidden molecular defect responsible for the patient's condition is translated to improved genetic counselling.
C1 [Nicholl, Jillian; Waters, Wendy; Mulley, John C.; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Friend, Kathryn; Bain, Sharon M.; Yu, Sui] Womens & Childrens Hosp, Dept Med Genet, Directorate Genet & Mol Pathol, SA Pathol, Adelaide, SA 5006, Australia.
[Mulley, John C.; Bain, Sharon M.; Yu, Sui] Univ Adelaide, Sch Mol & Biomed Sci, Adelaide, SA, Australia.
[Mulley, John C.; Barnett, Christopher; Haan, Eric; Thompson, Elizabeth M.; Yu, Sui] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.
[Barnett, Christopher; Haan, Eric; Thompson, Elizabeth M.; Liebelt, Jan; Mcgregor, Lesley] Womens & Childrens Hosp, SA Pathol, South Australian Clin Genet Serv, Adelaide, SA 5006, Australia.
[Harbord, Michael G.; Entwistle, John] Modbury Hosp, North East Clin, Ctr Disabil Hlth, Adelaide, SA, Australia.
[Munt, Chris] Ashford Med Ctr, Adelaide, SA, Australia.
[White, Dierdre] Flinders Med Ctr, Bedford Pk, SA, Australia.
[Chitti, Anthony] Calvary Hosp, Adelaide, SA, Australia.
[Baulderstone, David] Womens & Childrens Hlth Network, Adelaide, SA, Australia.
[Ketteridge, David] Pk Community Hlth Serv, Angle Pk, SA, Australia.
RP Yu, S (reprint author), Womens & Childrens Hosp, Dept Med Genet, Directorate Genet & Mol Pathol, SA Pathol, 72 King William Rd, Adelaide, SA 5006, Australia.
EM sui.yu@health.sa.gov.au
FU SA Pathology
FX This work was supported by SA Pathology. The authors state that there
are no conflicts of interest to disclose.
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NR 37
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0031-3025
EI 1465-3931
J9 PATHOLOGY
JI Pathology
PD JAN
PY 2014
VL 46
IS 1
BP 41
EP 45
DI 10.1097/PAT.0000000000000043
PG 5
WC Pathology
SC Pathology
GA AK8RD
UT WOS:000338694800008
PM 24300712
ER
PT J
AU Russo, SR
Tincani, M
Axelrod, S
AF Russo, Samantha R.
Tincani, Matt
Axelrod, Saul
TI Evaluating Open-Ended Parent Reports and Direct Preference Assessments
to Identify Reinforcers for Young Children With Autism
SO CHILD & FAMILY BEHAVIOR THERAPY
LA English
DT Article
DE autism; autism spectrum disorder; preference assessment; reinforcer
assessment
ID STIMULUS PREFERENCE; MULTIPLE-STIMULUS; DEVELOPMENTAL-DISABILITIES;
PROFOUND DISABILITIES; CHOICE ASSESSMENT; INDIVIDUALS; IDENTIFICATION;
DISORDERS; HANDICAPS; LEISURE
AB Little research has evaluated open-ended parent reports to identify reinforcers for children with autism. This study evaluated open-ended parent reports and direct preference assessments for six young children with autism in home-based therapy. Results indicated little correspondence between parent reports and direct assessment assessments for all but one child. However, a follow-up reinforcer assessment with two children showed that the top ranked stimulus from both assessments functioned as reinforcers, with one child demonstrating higher levels of responding for the top ranked stimulus from the parent report. Results tentatively support open-ended parent reports to identify reinforcers for young children with autism.
C1 [Russo, Samantha R.] Temple Univ, Interdisciplinary Master Sci Educ Program Appl Be, Philadelphia, PA 19122 USA.
[Tincani, Matt] Temple Univ, Dept Psychol Org & Leadership Studies, Philadelphia, PA 19122 USA.
[Axelrod, Saul] Temple Univ, Dept Teaching & Learning, Philadelphia, PA 19122 USA.
RP Tincani, M (reprint author), Temple Univ, Coll Educ, Dept Psychol Org & Leadership Studies, 1301 Cecil B Moore Ave,Ritter Hall 365, Philadelphia, PA 19122 USA.
EM tincani@temple.edu
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NR 26
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0731-7107
EI 1545-228X
J9 CHILD FAM BEHAV THER
JI Child Fam. Behav. Ther.
PY 2014
VL 36
IS 2
BP 107
EP 120
DI 10.1080/07317107.2014.910732
PG 14
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AK2XW
UT WOS:000338284600002
ER
PT J
AU Muir, K
Strnadova, I
AF Muir, Kristy
Strnadova, Iva
TI Whose responsibility? Resilience in families of children with
developmental disabilities
SO DISABILITY & SOCIETY
LA English
DT Article
DE family resilience; children with developmental disabilities; individual
characteristics and beliefs; families' skills and practices; access to
resources
ID QUALITY; AUTISM; LIFE
AB Families with children with disabilities are at higher risk of stress, financial disadvantage and breakdown. In recent decades, research and policy have shifted focus from these problems to a strengths-based approach, using concepts such as family resilience. By definition, resilience is the ability to cope in adverse circumstances, suggesting a reliance on the individual. If this is the case, then to what extent does ` family resilience' place another burden of responsibility onto families? Whose responsibility is family resilience? This paper begins to answer this question using interviews with parents of children with developmental disabilities based in New South Wales, Australia.
C1 [Muir, Kristy] Univ New S Wales, Ctr Social Impact, Sydney, NSW, Australia.
[Strnadova, Iva] Univ New S Wales, Sch Educ, Sydney, NSW, Australia.
RP Muir, K (reprint author), Univ New S Wales, Ctr Social Impact, Sydney, NSW, Australia.
EM k.muir@unsw.edu.au
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NR 37
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PY 2014
VL 29
IS 6
BP 922
EP 937
DI 10.1080/09687599.2014.886555
PG 16
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AK1SR
UT WOS:000338196900006
ER
PT J
AU Suzuki, M
Yamada, A
Watanabe, N
Akechi, T
Katsuki, F
Nishiyama, T
Imaeda, M
Miyachi, T
Otaki, K
Mitsuda, Y
Ota, A
Furukawa, TA
AF Suzuki, Masako
Yamada, Atsurou
Watanabe, Norio
Akechi, Tatsuo
Katsuki, Fujika
Nishiyama, Takeshi
Imaeda, Masayuki
Miyachi, Taishi
Otaki, Kazuo
Mitsuda, Yumiko
Ota, Akino
Furukawa, Toshi A.
TI A failure to confirm the effectiveness of a brief group
psychoeducational program for mothers of children with high-functioning
pervasive developmental disorders: a randomized controlled pilot trial
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE family psychoeducation; pervasive developmental disorder;
problem-solving therapy; parenting stress
ID AUTISM SPECTRUM DISORDERS; PARENTAL MENTAL-HEALTH; QUALITY-OF-LIFE;
PSYCHIATRIC-DISORDERS; PRESCHOOL-CHILDREN; ASPERGER-SYNDROME; STRESS;
TODDLERS; VALIDITY; VERSION
AB Objective: The purpose of this study was to examine the effectiveness of group psychoeducation to relieve the psychological distress of mothers of children with high-functioning pervasive developmental disorders (HFPDD) and to improve the behaviors of the children.
Methods: Seventy-two mothers of preschool outpatients with HFPDD were randomly assigned to a four-session brief group psychoeducational program (GP). The sessions were held every second week in addition to the usual treatment (GP + treatment as usual [ TAU] group), or to a TAU-alone group. The primary outcome was self-reported symptoms of maternal mental health as assessed using the 28-item General Health Questionnaire (GHQ-28) at 21 weeks post-randomization (week 21). The GHQ-28 at the end of the intervention (week 7), Aberrant Behavior Checklist (ABC) for the behavior of the children, the Zarit Burden Interview (ZBI), and the Medical Outcomes Study 36-item Short Form Health Survey (SF-36) were carried out at weeks 7 and 21. We tested the group effects with the interaction between the intervention and the evaluation points.
Results: The GHQ-28 score at week 21 was significantly higher in the GP + TAU group as compared to that in the TAU-alone group, indicating a greater improvement in the TAU-alone group. There was no evidence that GP + TAU led to a greater improvement of maternal mental health than TAU-alone at week 7. Similarly, no evidence was obtained to indicate that GP + TAU led to a reduction in the ABC or ZBI scores by week 7 or 21. The adjusted scores for the RF (role emotional) and MH (mental health) subscales of the SF-36 at week 21 were also significantly lower in the GP + TAU group, indicating a similar tendency to that of the change of the GHQ-28 score at week 21.
Conclusion: The psychoeducational program did not alleviate maternal distress, aberrant behaviors of the children, or caregiver burden.
C1 [Suzuki, Masako; Yamada, Atsurou; Watanabe, Norio; Akechi, Tatsuo] Nagoya City Univ, Grad Sch Med Sci, Dept Psychiat & Cognit Behav Med, Nagoya, Aichi 4678601, Japan.
[Katsuki, Fujika] Nagoya City Univ, Sch Nursing, Dept Psychiat & Mental Hlth Nursing, Nagoya, Aichi 4678601, Japan.
[Nishiyama, Takeshi] Nagoya City Univ Hosp, Clin Trial Management Ctr, Nagoya, Aichi, Japan.
[Imaeda, Masayuki; Miyachi, Taishi] Nagoya City Univ, Grad Sch Med Sci, Dept Neonatol & Pediat, Nagoya, Aichi 4678601, Japan.
[Otaki, Kazuo] Kazuo Mental Clin, Toyohashi, Aichi, Japan.
[Mitsuda, Yumiko; Ota, Akino] Toyokawa Sakura Hosp, Toyokawa, Japan.
[Furukawa, Toshi A.] Kyoto Univ, Grad Sch Med, Sch Publ Hlth, Dept Hlth Promot & Human Behav, Kyoto, Japan.
RP Suzuki, M (reprint author), Nagoya City Univ, Grad Sch Med Sci, Dept Psychiat & Cognit Behav Med, Mizuho Ku, Mizuho Cho, Nagoya, Aichi 4678601, Japan.
EM masako8886@yahoo.co.jp
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NR 55
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 1141
EP 1153
DI 10.2147/NDT.S60058
PG 13
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AK4YA
UT WOS:000338429300001
PM 25061301
ER
PT J
AU Enticott, PG
Kennedy, HA
Johnston, PJ
Rinehart, NJ
Tonge, BJ
Taffe, JR
Fitzgerald, PB
AF Enticott, Peter G.
Kennedy, Hayley A.
Johnston, Patrick J.
Rinehart, Nicole J.
Tonge, Bruce J.
Taffe, John R.
Fitzgerald, Paul B.
TI Emotion recognition of static and dynamic faces in autism spectrum
disorder
SO COGNITION & EMOTION
LA English
DT Article
DE Autism; Asperger's disorder; Facial emotion recognition; Dynamic faces
ID HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSIONS; ASPERGER-SYNDROME;
CHILDREN; QUOTIENT; ADULTS; DEFICITS
AB There is substantial evidence for facial emotion recognition (FER) deficits in autism spectrum disorder (ASD). The extent of this impairment, however, remains unclear, and there is some suggestion that clinical groups might benefit from the use of dynamic rather than static images. High-functioning individuals with ASD (n = 36) and typically developing controls (n = 36) completed a computerised FER task involving static and dynamic expressions of the six basic emotions. The ASD group showed poorer overall performance in identifying anger and disgust and were disadvantaged by dynamic (relative to static) stimuli when presented with sad expressions. Among both groups, however, dynamic stimuli appeared to improve recognition of anger. This research provides further evidence of specific impairment in the recognition of negative emotions in ASD, but argues against any broad advantages associated with the use of dynamic displays.
C1 [Enticott, Peter G.; Kennedy, Hayley A.; Fitzgerald, Paul B.] Monash Univ, Alfred & Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Melbourne, Vic 3004, Australia.
[Enticott, Peter G.; Rinehart, Nicole J.; Tonge, Bruce J.; Taffe, John R.] Monash Univ, Sch Psychol & Psychiat, Ctr Dev Psychiat & Psychol, Clayton, Vic, Australia.
[Johnston, Patrick J.] Univ York, Dept Psychol, York YO10 5DD, N Yorkshire, England.
RP Enticott, PG (reprint author), Deakin Univ, Sch Psychol, 221 Burwood Hwy, Burwood, Vic 3125, Australia.
EM peter.enticott@deakin.edu.au
RI Johnston, Patrick/P-3158-2014
OI Johnston, Patrick/0000-0001-7703-1073
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NR 25
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0269-9931
EI 1464-0600
J9 COGNITION EMOTION
JI Cogn. Emot.
PY 2014
VL 28
IS 6
BP 1110
EP 1118
DI 10.1080/02699931.2013.867832
PG 9
WC Psychology, Experimental
SC Psychology
GA AJ8TE
UT WOS:000337979700011
PM 24341852
ER
PT J
AU Volkmar, FR
McPartland, JC
AF Volkmar, Fred R.
McPartland, James C.
BE Cannon, TD
Widiger, T
TI From Kanner to DSM-5: Autism as an Evolving Diagnostic Concept
SO ANNUAL REVIEW OF CLINICAL PSYCHOLOGY, VOL 10
SE Annual Review of Clinical Psychology
LA English
DT Article; Book Chapter
DE autism; autism spectrum; DSM-5; diagnosis; classification
ID PERVASIVE DEVELOPMENTAL DISORDERS; III-R CRITERIA; CHILDHOOD
DISINTEGRATIVE DISORDER; SPECTRUM DISORDER; ASPERGER-SYNDROME;
RETT-SYNDROME; IV-TR; PSYCHIATRIC-DIAGNOSIS; INFANTILE-AUTISM; FIELD
TRIALS
AB Seven decades have elapsed since Leo Kanner described the syndrome he termed early infantile autism. Over this time, and particularly over the past two decades, noteworthy changes have occurred in how the condition is conceptualized. Here we provide an overview of these changes, beginning with a brief discussion of the significance of classification in general before discussing Kanner's original paper and subsequent changes. We touch on relevant issues, such as comorbidity, dimensional aspects of diagnosis and screening, and the complex issue of diagnosis relative to eligibility for services. Approaches to diagnosis have tended to swing from emphasizing overarching groups (lumping) to focusing on potentially distinct subgroups (splitting). Autism raises particular problems given the broad range of syndrome expression over age and developmental level. The most recent revision of the American Psychiatric Association's diagnostic taxonomy marks a significant departure from its predecessor and has been the focus of much debate. It remains unclear which of the currently existing categorical approaches will ultimately be most widely applied. We hope to convey a sense of areas in which consensus has been achieved and areas of continued controversy.
C1 [Volkmar, Fred R.; McPartland, James C.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
RP Volkmar, FR (reprint author), Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
EM fred.volkmar@yale.edu; james.mcpartland@yale.edu
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NR 130
TC 1
Z9 3
PU ANNUAL REVIEWS
PI PALO ALTO
PA 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0897 USA
SN 1548-5943
BN 978-0-8243-3910-4
J9 ANNU REV CLIN PSYCHO
JI Annu. Rev. Clin. Psychol.
PY 2014
VL 10
BP 193
EP 212
DI 10.1146/annurev-clinpsy-032813-153710
PG 20
WC Psychology, Clinical; Psychology
SC Psychology
GA BA4XX
UT WOS:000336428200009
PM 24329180
ER
PT J
AU Hovey, D
Zettergren, A
Jonsson, L
Melke, J
Anckarsater, H
Lichtenstein, P
Westberg, L
AF Hovey, Daniel
Zettergren, Anna
Jonsson, Lina
Melke, Jonas
Anckarsater, Henrik
Lichtenstein, Paul
Westberg, Lars
TI Associations between oxytocin-related genes and autistic-like traits
SO SOCIAL NEUROSCIENCE
LA English
DT Article
DE Autism; Oxytocin; ARNT2; SIM1; CD38
ID SPECTRUM DISORDERS; SOCIAL-BEHAVIOR; CD38 GENE; TELEPHONE INTERVIEW;
INTRANASAL OXYTOCIN; CHILDHOOD AUTISM; A-TAC; VASOPRESSIN; COMMON; SIM1
AB Oxytocin has repeatedly been shown to influence human behavior in social contexts; also, a relationship between oxytocin and the pathophysiology of autism spectrum disorder (ASD) has been suggested. In the present study, we investigated single-nucleotide polymorphisms (SNPs) in the oxytocin gene (OXT) and the genes for single-minded 1 (SIM1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) and cluster of differentiation 38 (CD38) in a population of 1771 children from the Child and Adolescent Twin Study in Sweden (CATSS). Statistical analyses were performed to investigate any association between SNPs and autistic-like traits (ALTs), measured through ASD scores in the Autism-Tics, ADHD and other Co-morbidities inventory. Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously. Furthermore, nominal associations were found between ASD scores and SNPs in OXT, ARNT2 and CD38. In summary, the present study lends support to the hypothesis that oxytocin and oxytocin neuron development may have an influence on the development of ALTs and suggests a new candidate gene in the search for the pathophysiology of ASD.
C1 [Hovey, Daniel; Zettergren, Anna; Jonsson, Lina; Melke, Jonas; Westberg, Lars] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Pharmacol, S-40530 Gothenburg, Sweden.
[Anckarsater, Henrik] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Psychol, Dept Forens Psychiat, S-40530 Gothenburg, Sweden.
[Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Hovey, D (reprint author), Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Pharmacol, POB 431, S-40530 Gothenburg, Sweden.
EM daniel.johansson@neuro.gu.se
FU Swedish Research Council; Swedish Research Council for Working Life and
Social Research; Swedish Brain Foundation; Svenska Sallskapet for
Medicinsk Forskning (SSMF); Fredrik and Ingrid Thurings stiftelse; Ake
Wibergs stiftelse; Ahlen-stiftelsen; Jeanssons-stiftelsen; Magnus
Bergvalls stiftelse; Soderstrom-Konigska stiftelsen; Marta Lundqvists
stiftelse; Novo Nordisk Foundation
FX This work was supported by grants from the Swedish Research Council,
Swedish Research Council for Working Life and Social Research, Swedish
Brain Foundation, Svenska Sallskapet for Medicinsk Forskning (SSMF),
Fredrik and Ingrid Thurings stiftelse, Ake Wibergs stiftelse,
Ahlen-stiftelsen, Jeanssons-stiftelsen, Magnus Bergvalls stiftelse,
Soderstrom-Konigska stiftelsen, Marta Lundqvists stiftelse and the Novo
Nordisk Foundation.
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NR 58
TC 2
Z9 2
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1747-0919
EI 1747-0927
J9 SOC NEUROSCI-UK
JI Soc. Neurosci.
PY 2014
VL 9
IS 4
BP 378
EP 386
DI 10.1080/17470919.2014.897995
PG 9
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AJ3XH
UT WOS:000337600700007
PM 24635660
ER
PT J
AU Riekki, T
Lindeman, M
Raij, TT
AF Riekki, Tapani
Lindeman, Marjaana
Raij, Tuukka T.
TI Supernatural believers attribute more intentions to random movement than
skeptics: An fMRI study
SO SOCIAL NEUROSCIENCE
LA English
DT Article
DE Supernatural beliefs; Theory of mind; Intentionality; fMRI
ID SOCIAL COGNITION; EVOLUTIONARY PSYCHOLOGY; NEURAL FOUNDATIONS;
BIOLOGICAL MOTION; RELIGIOUS BELIEF; BRAIN; PERCEPTION; MIND; PURPOSE;
AUTISM
AB A host of research has attempted to explain why some believe in the supernatural and some do not. One suggested explanation for commonly held supernatural beliefs is that they are a by-product of theory of mind (ToM) processing. However, this does not explain why skeptics with intact ToM processes do not believe. We employed fMRI to investigate activation differences in ToM-related brain circuitries between supernatural believers (N = 12) and skeptics (N = 11) while they watched 2D animations of geometric objects moving intentionally or randomly and rated the intentionality of the animations. The ToM-related circuitries in the medial prefrontal cortex (mPFC) were localized by contrasting intention-rating-related and control-rating-related brain activation. Compared with the skeptics, the supernatural believers rated the random movements as more intentional and had stronger activation of the ToM-related circuitries during the animation with random movement. The strength of the ToM-related activation covaried with the intentionality ratings. These findings provide evidence that differences in ToM-related activations are associated with supernatural believers' tendency to interpret random phenomena in mental terms. Thus, differences in ToM processing may contribute to differences between believing and unbelieving.
C1 [Riekki, Tapani; Lindeman, Marjaana] Univ Helsinki, Inst Behav Sci, Div Cognit Psychol & Neuropsychol, FIN-00014 Helsinki, Finland.
[Raij, Tuukka T.] Aalto Univ, Sch Sci, OV Lounasmaa Lab, Brain Res Unit, Espoo, Finland.
[Raij, Tuukka T.] Aalto Univ, Sch Sci, Adv Magnet Imaging Ctr, Espoo, Finland.
RP Riekki, T (reprint author), Univ Helsinki, Inst Behav Sci, Div Cognit Psychol & Neuropsychol, POB 9, FIN-00014 Helsinki, Finland.
EM tapani.riekki@helsinki.fi
FU Research Funds of the University of Helsinki; National Centers of
Excellence Programme; European Research Council Advanced Grant [232946]
FX This study was supported by a grant from the Research Funds of the
University of Helsinki awarded to Marjaana Lindeman and by the National
Centers of Excellence Programme 2006-2011 and the European Research
Council Advanced Grant [grant number 232946] to Riitta Hari.
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NR 56
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1747-0919
EI 1747-0927
J9 SOC NEUROSCI-UK
JI Soc. Neurosci.
PY 2014
VL 9
IS 4
BP 400
EP 411
DI 10.1080/17470919.2014.906366
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AJ3XH
UT WOS:000337600700009
PM 24720663
ER
PT J
AU Hadjikhani, N
Zurcher, NR
Rogier, O
Hippolyte, L
Lemonnier, E
Ruest, T
Ward, N
Lassalle, A
Gillberg, N
Billstedt, E
Helles, A
Gillberg, C
Solomon, P
Prkachin, KM
Gillberg, C
AF Hadjikhani, N.
Zuercher, N. R.
Rogier, O.
Hippolyte, L.
Lemonnier, E.
Ruest, T.
Ward, N.
Lassalle, A.
Gillberg, N.
Billstedt, E.
Helles, A.
Gillberg, C.
Solomon, P.
Prkachin, K. M.
Gillberg, C.
TI Emotional contagion for pain is intact in autism spectrum disorders
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
DE autism; emotion perception; fMRI; pain
ID ASPERGER-SYNDROME; COGNITIVE EMPATHY; NEURAL SYSTEMS; DIAGNOSTIC
INTERVIEW; FUNCTIONING AUTISM; FACIAL EXPRESSIONS; BRAIN MECHANISMS;
FUSIFORM GYRUS; MIRROR NEURON; ADULTS
AB Perceiving others in pain generally leads to empathic concern, consisting of both emotional and cognitive processes. Empathy deficits have been considered as an element contributing to social difficulties in individuals with autism spectrum disorders (ASD). Here, we used functional magnetic resonance imaging and short video clips of facial expressions of people experiencing pain to examine the neural substrates underlying the spontaneous empathic response to pain in autism. Thirty-eight adolescents and adults of normal intelligence diagnosed with ASD and 35 matched controls participated in the study. In contrast to general assumptions, we found no significant differences in brain activation between ASD individuals and controls during the perception of pain experienced by others. Both groups showed similar levels of activation in areas associated with pain sharing, evidencing the presence of emotional empathy and emotional contagion in participants with autism as well as in controls. Differences between groups could be observed at a more liberal statistical threshold, and revealed increased activations in areas involved in cognitive reappraisal in ASD participants compared with controls. Scores of emotional empathy were positively correlated with brain activation in areas involved in embodiment of pain in ASD group only. Our findings show that simulation mechanisms involved in emotional empathy are preserved in high-functioning individuals with autism, and suggest that increased reappraisal may have a role in their apparent lack of caring behavior.
C1 [Hadjikhani, N.; Zuercher, N. R.; Rogier, O.; Hippolyte, L.; Ruest, T.; Lassalle, A.] Ecole Polytech Fed Lausanne, Brain Mind Inst, CH-1015 Lausanne, Switzerland.
[Hadjikhani, N.; Gillberg, N.; Billstedt, E.; Helles, A.; Gillberg, C.; Gillberg, C.] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Hadjikhani, N.; Zuercher, N. R.; Ward, N.] Harvard Univ, Sch Med, Athinoula A Martinos Ctr Biomed Imaging, Massachusetts Gen Hosp, Charlestown, MA 02129 USA.
[Lemonnier, E.] Univ Bretagne Occidentale, Lab Neurosci Brest, EA4685, Brest, France.
[Solomon, P.] McMaster Univ, Sch Rehabil Sci, Hamilton, ON, Canada.
[Prkachin, K. M.] Univ No British Columbia, Hlth Psychol Lab, Prince George, BC V2L 5P2, Canada.
RP Hadjikhani, N (reprint author), Harvard Univ, Sch Med, Athinoula A Martinos Ctr Biomed Imaging, 149,13th St, Charlestown, MA 02129 USA.
EM nouchine@nmr.mgh.harvard.edu
RI Centre d'imagerie Biomedicale, CIBM/B-5740-2012
FU Swiss National Science Foundation [PP00P3-130191]; Velux Stiftung;
Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne
(UNIL); Swiss Federal Institute of Technology Lausanne (EPFL); Swedish
Science Council; Canadian Institutes of Health Research; Foundation
Rossi Di Montalera
FX We thank all participants and their families. We also thank K.
Metrailler for her support in participants' recruitment, C. Burget for
her administrative assistance, A. Lissot and J. Snyder for their help in
data analysis and technical support, and K. B. Jensen for her insightful
comments on the manuscript. This work was supported by the Swiss
National Science Foundation (PP00P3-130191 to NH), the Velux Stiftung,
the Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne
(UNIL), the Swiss Federal Institute of Technology Lausanne (EPFL), the
Swedish Science Council, as well as the Foundation Rossi Di Montalera.
Preparation of the facial pain videos was supported by a grant from the
Canadian Institutes of Health Research. The funders had no role in the
design and conduct of the study; collection, management, analysis, and
interpretation of the data; and preparation, review, or approval of the
manuscript.
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NR 88
TC 4
Z9 4
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 JAN
PY 2014
VL 4
AR e343
DI 10.1038/tp.2013.113
PG 9
WC Psychiatry
SC Psychiatry
GA AJ2RL
UT WOS:000337507500005
PM 24424389
ER
PT J
AU Wittkowski, KM
Sonakya, V
Bigio, B
Tonn, MK
Shic, F
Ascano, M
Nasca, C
Gold-Von Simson, G
AF Wittkowski, K. M.
Sonakya, V.
Bigio, B.
Tonn, M. K.
Shic, F.
Ascano, M., Jr.
Nasca, C.
Gold-Von Simson, G.
TI A novel computational biostatistics approach implies impaired
dephosphorylation of growth factor receptors as associated with severity
of autism
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
DE genetics; autism; epilepsy; computational biostatistics; genome-wide
significance; genome-wide association studies; minor allele frequency
ID GENOME-WIDE ASSOCIATION; LINKED INTELLECTUAL DISABILITY;
PROTEIN-TYROSINE PHOSPHATASES; COMMON GENETIC-VARIANTS; SPECTRUM
DISORDERS; NEURONAL EXCITABILITY; PROGESTERONE-RECEPTORS; 6-MONTH-OLD
INFANTS; HEAD CIRCUMFERENCE; NERVOUS-SYSTEM
AB The prevalence of autism spectrum disorders (ASDs) has increased 20-fold over the past 50 years to >1% of US children. Although twin studies attest to a high degree of heritability, the genetic risk factors are still poorly understood. We analyzed data from two independent populations using u-statistics for genetically structured wide-locus data and added data from unrelated controls to explore epistasis. To account for systematic, but disease-unrelated differences in (non-randomized) genome-wide association studies (GWAS), a correlation between P-values and minor allele frequency with low granularity data and for conducting multiple tests in overlapping genetic regions, we present a novel study-specific criterion for 'genome-wide significance'. From recent results in a comorbid disease, childhood absence epilepsy, we had hypothesized that axonal guidance and calcium signaling are involved in autism as well. Enrichment of the results in both studies with related genes confirms this hypothesis. Additional ASD-specific variations identified in this study suggest protracted growth factor signaling as causing more severe forms of ASD. Another cluster of related genes suggests chloride and potassium ion channels as additional ASD-specific drug targets. The involvement of growth factors suggests the time of accelerated neuronal growth and pruning at 9-24 months of age as the period during which treatment with ion channel modulators would be most effective in preventing progression to more severe forms of autism. By extension, the same computational biostatistics approach could yield profound insights into the etiology of many common diseases from the genetic data collected over the last decade.
C1 [Wittkowski, K. M.; Sonakya, V.; Bigio, B.] Rockefeller Univ, Ctr Clin & Translat Sci, New York, NY 10065 USA.
[Tonn, M. K.] Hsch Koblenz, Remagen, Germany.
[Shic, F.] Yale Univ, Sch Med, Yale Autism Program, New Haven, CT USA.
[Ascano, M., Jr.] Rockefeller Univ, Tuschl Lab RNA Mol Biol, New York, NY 10065 USA.
[Nasca, C.] Rockefeller Univ, McEwen Lab Neuroendocrinol, New York, NY 10065 USA.
[Gold-Von Simson, G.] NYU, Langone Med Ctr, New York, NY USA.
RP Wittkowski, KM (reprint author), Rockefeller Univ, Ctr Clin & Translat Sci, 1230 York Ave Box 322, New York, NY 10065 USA.
EM kmw@rockefeller.edu
FU US National Center for Research Resources (NCRR) [2 UL1 RR024143];
Clinical and Translational Science Award (CTSA); NCRR [8 UL1 TR000043];
US National Center for Advancing Translational Sciences (NCATS); Simons
Foundation Autism Research Initiative [2448132]; NCATS [UL1 TR000038,
UL1 RR024139]; US National Institute of Diabetes and Digestive and
Kidney Diseases (NIDDK) [R25DK092170-01A1]; National Institute of Child
Health and Human Development (NICHD) [HD003008]; National Institute of
Mental Health (NIHM) [MH100182, MH086732, MH092618-01A1, MH18268]; CTSA
FX KMW, VS and BB were in part funded by grant #2 UL1 RR024143 from the US
National Center for Research Resources (NCRR) and the Clinical and
Translational Science Award (CTSA) and #8 UL1 TR000043 from the NCRR and
the US National Center for Advancing Translational Sciences (NCATS). KMW
and VS were in part funded by grant #2448132 from the Simons Foundation
Autism Research Initiative. GGVS was in part funded by grant #UL1
TR000038 from NCATS and grant #R25DK092170-01A1 from the US National
Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). FS was
in part funded by grant #HD003008 from the National Institute of Child
Health and Human Development (NICHD), grants #MH100182, #MH086732,
#MH092618-01A1 and #MH18268 from the National Institute of Mental Health
(NIHM), and CTSA grant #UL1 RR024139 from NCATS. We thank Bernie Devlin
and Lambertus Klei for providing critical information about the AGP data
and previous analyses performed on it, James G. Krueger, Jules Hirsch,
Donald Pfaff and Brian T. Chait for a critical review, and Daniel Li and
Corin Bronsther for their help with data analysis and manuscript
preparation.
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NR 165
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 JAN
PY 2014
VL 4
AR e354
DI 10.1038/tp.2013.124
PG 14
WC Psychiatry
SC Psychiatry
GA AJ2RL
UT WOS:000337507500016
PM 24473445
ER
PT J
AU Zhubi, A
Chen, Y
Dong, E
Cook, EH
Guidotti, A
Grayson, DR
AF Zhubi, A.
Chen, Y.
Dong, E.
Cook, E. H.
Guidotti, A.
Grayson, D. R.
TI Increased binding of MeCP2 to the GAD1 and RELN promoters may be
mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD)
cerebellum
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
DE autism; cerebellum; epigenetics; gene expression; postmortem
ID DNA DEMETHYLATION; RETT-SYNDROME; BRAIN; METHYLATION;
5-HYDROXYMETHYLCYTOSINE; NEURONS; TET1; 5-METHYLCYTOSINE;
PHOSPHORYLATION; HYDROXYLATION
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by symptoms related to altered social interactions/communication and restricted and repetitive behaviors. In addition to genetic risk, epigenetic mechanisms (which include DNA methylation/demethylation) are thought to be important in the etiopathogenesis of ASD. We studied epigenetic mechanisms underlying the transcriptional regulation of candidate genes in cerebella of ASD patients, including the binding of MeCP2 (methyl CpG binding protein-2) to the glutamic acid decarboxylase 67 (GAD1), glutamic acid decarboxylase 65 (GAD2), and Reelin (RELN) promoters and gene bodies. Moreover, we performed methyl DNA immunoprecipitation (MeDIP) and hydroxymethyl DNA immunoprecipitation (hMeDIP) to measure total 5-methylcytosine (5-mC) and 5-hydroxymethylcytosine (5-hmC) in the same regions of these genes. The enrichment of 5-hmC and decrease in 5-mC at the GAD1 or RELN promoters detected by 5-hmC and 5-mC antibodies was confirmed by Tet-assisted bisulfite (TAB) pyrosequencing. The results showed a marked and significant increase in MeCP2 binding to the promoter regions of GAD1 and RELN, but not to the corresponding gene body regions in cerebellar cortex of ASD patients. Moreover, we detected a significant increase in TET1 expression and an enrichment in the level of 5-hmC, but not 5-mC, at the promoters of GAD1 and RELN in ASD when compared with CON. Moreover, there was increased TET1 binding to these promoter regions. These data are consistent with the hypothesis that an increase of 5-hmC (relative to 5-mC) at specific gene domains enhances the binding of MeCP2 to 5-hmC and reduces expression of the corresponding target genes in ASD cerebella.
C1 [Zhubi, A.; Chen, Y.; Dong, E.; Guidotti, A.; Grayson, D. R.] Univ Illinois, Coll Med, Dept Psychiat, Inst Psychiat, Chicago, IL 60612 USA.
[Cook, E. H.] Univ Illinois, Coll Med, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA.
RP Grayson, DR (reprint author), Univ Illinois, Coll Med, Dept Psychiat, 1601W Taylor, Chicago, IL 60612 USA.
EM dgrayson@psych.uic.edu
FU NIH [R24 MH-068855, P50 HD055751, 5R01 MH093348]
FX We would like to acknowledge the Autism Tissue Program and the Harvard
Brain Tissue Resource Center (supported in part by NIH R24 MH-068855)
for providing human brain tissue samples. This work was supported in
part by NIH P50 HD055751 and 5R01 MH093348 to EHC and AG, respectively.
We would also like to thank the families for their sacrifice and
contribution to the research.
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NR 37
TC 12
Z9 12
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 JAN
PY 2014
VL 4
AR e349
DI 10.1038/tp.2013.123
PG 7
WC Psychiatry
SC Psychiatry
GA AJ2RL
UT WOS:000337507500011
PM 24448211
ER
PT J
AU Bollmer, GD
AF Bollmer, Grant David
TI PATHOLOGIES OF AFFECT The 'new wounded' and the politics of ontology
SO CULTURAL STUDIES
LA English
DT Article
DE affect theory; the body; social relation; neuropsychology; autism;
psychopathy
ID AUTISM
AB This essay juxtaposes the ontological variant of affect theorized by cultural theory with what Catherine Malabou terms the 'new wounded' - bodies defined by their inability to produce and experience specific neurological affects. Ontological affect theory positions the capacity of a body to affect and be affected as the foundation for relation both beyond and between individuals, often drawing on neuropsychology for the legitimation of its claims. The new wounded, however, exist as a form of life that cannot be acknowledged by these theories. The varied pathologies that comprise the new wounded are identified specifically by the inability to produce the affects that supposedly ground the ontology of relation. The first part of this essay examines how neuropsychology constructs and identifies the pathological other of the new wounded through discursive, medical and technological means. A body's capacity to experience affect is not something biologically given, but is instead produced through techniques that sort proper and improper bodies, defining the new wounded as less than fully human. The second part discusses the mobilization of neuropsychological norms in ontological affect theory. The turn to the biological in affect theory, often made in order to theorize a non-representational sphere of existence beyond the symbolic, relies on but cannot acknowledge the discursive and technological production of affective and affectless bodies in neuropsychology. The ontology of affect, consequentially, should be thought of as a normative political construct defined by the absent and erased other of the affectless body. I conclude by claiming that a politics of ontology must acknowledge how materialist and realist constructs of the ontological such as affect are inherently produced within and mobilized by historical contingencies, contexts and conjunctures.
C1 Univ Sydney, Dept Media & Commun, Digital Cultures Programme, Sydney, NSW 2006, Australia.
RP Bollmer, GD (reprint author), Univ Sydney, Dept Media & Commun, Digital Cultures Programme, Sydney, NSW 2006, Australia.
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NR 50
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0950-2386
EI 1466-4348
J9 CULT STUD
JI Cult. Stud.
PY 2014
VL 28
IS 2
BP 298
EP 326
DI 10.1080/09502386.2013.826264
PG 29
WC Anthropology; Cultural Studies
SC Anthropology; Cultural Studies
GA AI8OF
UT WOS:000337178000006
ER
PT J
AU Castro, S
Pinto, A
Simeonsson, RJ
AF Castro, Susana
Pinto, Ana
Simeonsson, Rune J.
TI Content analysis of Portuguese individualized education programmes for
young children with autism using the ICF-CY framework
SO EUROPEAN EARLY CHILDHOOD EDUCATION RESEARCH JOURNAL
LA English
DT Article
DE ICF-CY; intervention; assessment; preschool; biopsychosocial; autism
ID QUALITATIVE CONTENT-ANALYSIS; INTERNATIONAL CLASSIFICATION; DISABILITY;
LINKING; HEALTH; YOUTH
AB This study analysed 33 Individualised Education Programmes developed for pre-schoolers with autism, attending inclusive special education services in North Portugal, based on the International Classification of Functioning, Disability and Health for Children and Youth. The study identified dimensions of functioning addressed in the Individualised Education Programs and the correspondence between the assessment data on children's functionality and the intervention goals. The extent, to which the functioning dimensions overlap with the dimensions considered as essential to the assessment-intervention of children with autism, was also analysed. Results illustrate: the majority of domains addressed in the Portuguese Individualised Education Programmes relates to Activities and Participation; few domains are included both at the assessment and at the intervention level; Environmental Factors are not included in intervention goals; on average, the Individualised Education Programmes included only 32.8% of the dimensions considered to be essential; none of the eight essential Environmental Factors were included in any of the analysed Individualised Education Programmes, demonstrating a lack of consistency in assessment-intervention and difficulties in shifting paradigm. Results are discussed in light of the Ecological models of development and of the Diffusion of Innovation Theory.
C1 [Castro, Susana; Pinto, Ana] Univ Porto, Fac Psychol & Educ Sci, P-4100 Oporto, Portugal.
[Simeonsson, Rune J.] Univ N Carolina, Sch Educ, Chapel Hill, NC 27599 USA.
RP Castro, S (reprint author), Univ Porto, Fac Psychol & Educ Sci, Rua Campo Alegre 823, P-4100 Oporto, Portugal.
EM susanacastro161@gmail.com
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NR 27
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1350-293X
EI 1752-1807
J9 EUR EARLY CHILD EDUC
JI Eur. Early Child. Educ. Res. J.
PY 2014
VL 22
IS 1
BP 91
EP 104
DI 10.1080/1350293X.2012.704303
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA AI9EX
UT WOS:000337234000007
ER
PT J
AU Signorini, C
Leoncini, S
De Felice, C
Pecorelli, A
Meloni, I
Ariani, F
Mari, F
Amabile, S
Paccagnini, E
Gentile, M
Belmonte, G
Zollo, G
Valacchi, G
Durand, T
Galano, JM
Ciccoli, L
Renieri, A
Hayek, J
AF Signorini, Cinzia
Leoncini, Silvia
De Felice, Claudio
Pecorelli, Alessandra
Meloni, Ilaria
Ariani, Francesca
Mari, Francesca
Amabile, Sonia
Paccagnini, Eugenio
Gentile, Mariangela
Belmonte, Giuseppe
Zollo, Gloria
Valacchi, Giuseppe
Durand, Thierry
Galano, Jean-Marie
Ciccoli, Lucia
Renieri, Alessandra
Hayek, Joussef
TI Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical
Rett Syndrome
SO OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
LA English
DT Article
ID AGED HUMAN SKIN; OXIDATIVE STRESS; MATRIX METALLOPROTEINASE-1; COLLAGEN
FRAGMENTATION; DOCOSAHEXAENOIC ACID; CONNECTIVE-TISSUE; AUTISM; MECP2;
GLUTATHIONE; DISEASE
AB Evidence of oxidative stress has been reported in the blood of patients with Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations in the gene encoding the Methyl-CpG-binding protein 2. Little is known regarding the redox status in RTT cellular systems and its relationship with the morphological phenotype. In RTT patients (n = 16) we investigated four different oxidative stress markers, F-2 -Isoprostanes (F-2 -IsoPs), F-4 -Neuroprostanes (F-4 -NeuroPs), nonprotein bound iron (NPBI), and (4-HNE PAs), and glutathione in one of the most accessible cells, that is, skin fibroblasts, and searched for possible changes in cellular/intracellular structure and qualitativemodifications of synthesized collagen. Significantly increased F-4-NeuroPs (12-folds), F-2 -IsoPs (7.5-folds) NPBI (2.3-folds), 4-HNE PAs (1.48-folds), and GSSG (1.44-folds) were detected, with significantly decreased GSH(-43.6%) and GSH/GSSG ratio (-3.05 folds). A marked dilation of the rough endoplasmic reticulum cisternae, associated with several cytoplasmic multilamellar bodies, was detectable in RTT fibroblasts. Colocalization of collagen I and collagen III, as well as the percentage of type I collagen as derived by semiquantitative immunofluorescence staining analyses, appears to be significantly reduced in RTT cells. Our findings indicate the presence of a redox imbalance and previously unrecognized morphological skin fibroblast abnormalities in RTT patients.
C1 [Signorini, Cinzia; Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Ciccoli, Lucia] Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy.
[Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Hayek, Joussef] Univ Hosp Azienda Osped Univ Senese AOUS, Child Neuropsychiat Unit, I-53100 Siena, Italy.
[De Felice, Claudio] Univ Hosp AOUS, Policlin SM Alle Scotte, Neonatal Intens Care Unit, I-53100 Siena, Italy.
[Meloni, Ilaria; Ariani, Francesca; Mari, Francesca; Amabile, Sonia; Renieri, Alessandra] Univ Siena, I-53100 Siena, Italy.
[Paccagnini, Eugenio; Gentile, Mariangela] Univ Siena, Dept Life Sci, I-53100 Siena, Italy.
[Belmonte, Giuseppe] Univ Siena, Dept Med Surg & Neurosci, I-53100 Siena, Italy.
[Valacchi, Giuseppe] Univ Ferrara, Dept Life Sci & Biotechnol, I-44121 Ferrara, Italy.
[Durand, Thierry; Galano, Jean-Marie] UMR 5247 CNRS UM I UM II ENSCM, Inst Biomol Max Mousseron, F-34093 Montpellier 5, France.
[Renieri, Alessandra] Azienda Osped Univ Senese, I-53100 Siena, Italy.
RP Signorini, C (reprint author), Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy.
EM cinzia.signorini@unisi.it; geniente@gmail.com
FU Italian Health Ministry and Tuscan Region; [RF-TOS-20081225570]
FX This work was supported by the Grant no. RF-TOS-20081225570-Bando
Malattie Rare to AR. The present research project has been mainly funded
by the Italian Health Ministry and Tuscan Region. This research is
dedicated to all the Rett girls and their families. The authors thank
Dr. Pierluigi Tosi, Dr. Silvia Briani, and Dr. Roberta Croci from the
Administrative Direction of the Azienda Ospedaliera Senese for continued
support to our studies and for prior purchasing of the gas spectrometry
instrumentation. They also thank professional singer Matteo Setti for
his artistic contributions to the exploration of Rett syndrome and his
many charity concerts dedicated to the Rett girls and their families.
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NR 74
TC 1
Z9 1
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 1942-0900
EI 1942-0994
J9 OXID MED CELL LONGEV
JI Oxidative Med. Cell. Longev.
PY 2014
AR 195935
DI 10.1155/2014/195935
PG 10
WC Cell Biology
SC Cell Biology
GA AJ1OW
UT WOS:000337426400001
ER
PT J
AU Nadal-Desbarats, L
Aidoud, N
Emond, P
Blasco, H
Filipiak, I
Sarda, P
Bonnet-Brilhault, F
Mavel, S
Andres, CR
AF Nadal-Desbarats, Lydie
Aidoud, Nacima
Emond, Patrick
Blasco, Helene
Filipiak, Isabelle
Sarda, Pierre
Bonnet-Brilhault, Frederique
Mavel, Sylvie
Andres, Christian R.
TI Combined H-1-NMR and H-1-C-13 HSQC-NMR to improve urinary screening in
autism spectrum disorders
SO ANALYST
LA English
DT Article
ID MITOCHONDRIAL DYSFUNCTION; BIOMARKER DISCOVERY; CHILDREN; PLASMA;
SPECTROSCOPY; METABOLOMICS; METABONOMICS; BIOFLUIDS; DISEASE; ACIDS
AB Autism spectrum disorders (ASD) are neurodevelopmental diseases with complex genetic and environmental etiological factors. Although genetic causes play a significant part in the etiology of ASD, metabolic disturbances may also play a causal role or modulate the clinical features of ASD. The number of ASD studies involving metabolomics is increasing, and sometime with conflicting findings. We assessed the metabolomics profiling of urine samples to determine a comprehensive biochemical signature of ASD. Furthermore, to date no study has combined metabolic profiles obtained from different analytical techniques to distinguish patient with ASD from healthy individuals. We obtained H-1-NMR spectra and 2D H-1-C-13 HSQC NMR spectra from urine samples of patients with ASD or healthy controls. We analyzed these spectra by multivariate statistical data analysis. The OPLS-DA model obtained from H-1 NMR spectra showed a good discrimination between ASD samples and non-ASD samples ((RY)-Y-2(cum) -0.70 and Q(2) -0.51). Combining the 1H NMR spectra and the 2D H-1-C-13 HSQC NMR spectra increased the overall quality and predictive value of the OPLS-DA model ((RY)-Y-2(cum) = 0.84 and Q(2) = 0.71), leading to a better sensitivity and specificity. Urinary excretion of succinate, glutamate and 3-methyl-histidine differed significantly between ASD and non-ASD samples. Urinary screening of children with neurodevelopmental disorders by combining NMR spectroscopies (1D and 2D) in multivariate analysis is a better sensitive and a straightforward method that could help the diagnosis ASD.
C1 [Nadal-Desbarats, Lydie; Aidoud, Nacima; Emond, Patrick; Blasco, Helene; Mavel, Sylvie; Andres, Christian R.] Univ Tours, INSERM U930, Equipe Neurogenet & Neurometabol, PPF Anal Syst Biol,UFR Med, F-37000 Tours, France.
[Nadal-Desbarats, Lydie; Emond, Patrick; Blasco, Helene; Andres, Christian R.] CHRU Tours, Serv Biochim & Biol Mol, F-37000 Tours, France.
[Nadal-Desbarats, Lydie; Emond, Patrick] PPF Anal Syst Biol, Dept Anal Chim Biol & Mol, Tours, France.
[Bonnet-Brilhault, Frederique] CHRU Tours, Ctr Univ Psedopsychiat, F-37000 Tours, France.
[Sarda, Pierre] CHU Montpellier, Serv Genet Med, F-34000 Montpellier, France.
[Filipiak, Isabelle] Univ Tours, INSERM U930, Equipe Imagerie & Ultrasons, F-37000 Tours, France.
[Bonnet-Brilhault, Frederique] Univ Tours, INSERM U930, Equipe Autisme, F-37000 Tours, France.
RP Nadal-Desbarats, L (reprint author), Univ Tours, INSERM U930, Equipe Neurogenet & Neurometabol, PPF Anal Syst Biol,UFR Med, 10 BlvdTonnelli, F-37000 Tours, France.
EM nadal@med.univ-tours.fr
FU "Institut National de la Sante et de la Recherche" INSERM; University
Francois-Rabelais
FX This work was supported by the "Institut National de la Sante et de la
Recherche" INSERM and the University Francois-Rabelais. We would like to
thank the children and their parents/guardians who volunteered to
participate in this study. We thank the center "Sesame Autisme Loiret"
for their participation in this study.
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NR 64
TC 0
Z9 0
PU ROYAL SOC CHEMISTRY
PI CAMBRIDGE
PA THOMAS GRAHAM HOUSE, SCIENCE PARK, MILTON RD, CAMBRIDGE CB4 0WF, CAMBS,
ENGLAND
SN 0003-2654
EI 1364-5528
J9 ANALYST
JI Analyst
PY 2014
VL 139
IS 13
BP 3460
EP 3468
DI 10.1039/c4an00552j
PG 9
WC Chemistry, Analytical
SC Chemistry
GA AI8AT
UT WOS:000337125600037
PM 24841505
ER
PT J
AU Ahlstrom, BH
Wentz, E
AF Ahlstrom, Britt H.
Wentz, Elisabet
TI Difficulties in everyday life: Young persons with
attention-deficit/hyperactivity disorder and autism spectrum disorders
perspectives. A chat-log analysis
SO INTERNATIONAL JOURNAL OF QUALITATIVE STUDIES ON HEALTH AND WELL-BEING
LA English
DT Article
DE ADHD; autism; coaching; content analysis; everyday life; Internet-based
support; vulnerability; young persons
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; ADULT ADHD; ADOLESCENCE;
CHILDHOOD; CONCEPTIONS; PREVALENCE; TRANSITION; DIAGNOSIS; CHILDREN
AB This study focuses on the everyday life of young persons with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). There are follow-up studies describing ADHD, and ASD in adults, and residual impairments that affect life. Few qualitative studies have been conducted on the subject of their experiences of everyday life, and even fewer are from young persons' perspectives. This study's aim was to describe how young persons with ADHD and ASD function and how they manage their everyday life based on analyses of Internet-based chat logs. Twelve young persons (7 males and 5 females aged 15 - 26) diagnosed with ADHD and ASD were included consecutively and offered 8 weeks of Internet-based Support and Coaching (IBSC). Data were collected from 12 chat logs (445 pages of text) produced interactively by the participants and the coaches. Qualitative content analysis was applied. The text was coded and sorted into subthemes and further interpreted into themes. The findings revealed two themes: "fighting against an everyday life lived in vulnerability" with the following subthemes: "difficult things," "stress and rest," and "when feelings and thoughts are a concern"; and the theme "struggling to find a life of one's own" with the following subthemes: "decide and carry out," "making life choices," and "taking care of oneself." Dealing with the problematic situations that everyday encompasses requires personal strength and a desire to find adequate solutions, as well as to discover a role in society. This study, into the provision of support and coaching over the Internet, led to more in-depth knowledge about these young persons' everyday lives and revealed their ability to use IBSC to express the complexity of everyday life for young persons with ADHD and ASD. The implications of the findings are that using online coaching makes available new opportunities for healthcare professionals to acknowledge these young persons' problems.
C1 [Ahlstrom, Britt H.] Univ West, Dept Nursing Hlth & Culture, Trollhattan, Sweden.
[Ahlstrom, Britt H.; Wentz, Elisabet] Swedish Inst Hlth Sci, Vardal Inst, Lund, Sweden.
[Wentz, Elisabet] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
RP Ahlstrom, BH (reprint author), Univ West Hogskolan Vast, Dept Nursing Hlth & Culture, SE-46186 Trollhattan, Sweden.
EM britt.hedman.ahlstrom@hv.se
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World Medical Association Declaration of Helsinki, 2008, 52 WMA GEN ASS SEOUL
Wright L. M., 1999, J FAMILY NURSING, V5, P259, DOI DOI 10.1177/107484079900500302
NR 40
TC 0
Z9 0
PU CO-ACTION PUBLISHING
PI JARFALLA
PA RIPVAGEN 7, JARFALLA, SE-175 64, SWEDEN
SN 1748-2623
EI 1748-2631
J9 INT J QUAL STUD HEAL
JI Int. J. Qual. Stud. Health Well-Being
PY 2014
VL 9
AR 23376
DI 10.3402/qhw.v9.23376
PG 10
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AI5LO
UT WOS:000336908700001
PM 24875238
ER
PT J
AU Sylvia, LG
Shesler, LW
Peckham, AD
Grandin, T
Kahn, DA
AF Sylvia, Louisa Grandin
Shesler, Leah W.
Peckham, Andrew D.
Grandin, Temple
Kahn, David A.
TI Adjunctive Deep Touch Pressure for Comorbid Anxiety in Bipolar Disorder:
Mediated by Control of Sensory Input?
SO JOURNAL OF PSYCHIATRIC PRACTICE
LA English
DT Article
DE deep touch pressure; bipolar disorder; anxiety; comorbidity
ID AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER;
OVER-RESPONSIVITY; CHILDREN; PSYCHOSIS; EFFICACY; MASSAGE
AB Previous studies have shown that individuals with autism spectrum disorders and attention-deficit/hyperactivity disorder (ADHD) experience sensory over-responsivity (SOR) in which a heightened response is evoked by stimuli in the environment. These individuals also display symptoms of anxiety such as irritability, avoidance, and sweating. Deep touch pressure, a technique in which firm touch is applied to the body either by the self or by a machine, has been shown to improve functioning and reduce symptoms of anxiety in these populations. A patient presenting with bipolar I disorder and comorbid anxiety, ADHD, and dyslexia was taught deep touch pressure strategies to alleviate severe symptoms of sensory over-responsivity and anxiety. The patient reported that the techniques were helpful as they allowed her to cope with potentially overwhelming situations in her environment. Clinician-rated functioning also improved over the course of treatment. This case study suggests that deep touch pressure may be useful in patients with bipolar disorder who have SOR and anxiety as comorbid conditions.
C1 [Sylvia, Louisa Grandin; Shesler, Leah W.; Peckham, Andrew D.] Massachusetts Gen Hosp, Boston, MA 02114 USA.
[Sylvia, Louisa Grandin] Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
[Grandin, Temple] Colorado State Univ, Ft Collins, CO 80523 USA.
[Kahn, David A.] Columbia Univ Coll Phys & Surg, New York, NY 10032 USA.
RP Sylvia, LG (reprint author), Massachusetts Gen Hosp, Boston, MA 02114 USA.
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NR 33
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1527-4160
EI 1538-1145
J9 J PSYCHIATR PRACT
JI J. Psychiatr. Pract.
PD JAN
PY 2014
VL 20
IS 1
BP 71
EP 77
DI 10.1097/01.pra.0000442942.01479.ce
PG 7
WC Psychiatry
SC Psychiatry
GA AI4AN
UT WOS:000336807600011
PM 24419314
ER
PT J
AU Aldemir, O
Gursel, O
AF Aldemir, Ozgul
Gursel, Oguz
TI The Effectiveness of the Constant Time Delay Procedure in Teaching
Pre-school Academic Skills to Children with Developmental Disabilities
in a Small Group Teaching Arrangement
SO KURAM VE UYGULAMADA EGITIM BILIMLERI
LA English
DT Article
DE Constant Time Delay Procedure; Developmental Disability; Observational
Learning; Pre-school Academic Skills; Small Group Teaching Arrangement
ID SMALL-GROUP INSTRUCTION; CHAINED TASKS; STUDENTS; ACQUISITION;
INFORMATION; AUTISM; FEEDBACK
AB Children with developmental disabilities are trained using different teaching arrangements. One of these arrangements is called small group teaching. It has been ascertained that a small group teaching arrangement is more effective than a one-to-one teaching arrangement. In that sense, teaching academic skills to pre-school children in small-group arrangements is crucial in order to make them ready for their future educational environment. Considering this, the present study investigated the effectiveness of the constant time delay procedure in teaching pre-school academic skills to children with developmental disabilities in a small group teaching arrangement. It was also examined to what extent learning through observation can be achieved using the small-group teaching arrangement with a constant time delay. The study was conducted using four children with developmental disabilities between the ages of four and six. The multiple probe design across behaviors was applied individually to the four subjects in the study. The findings indicated that the use of constant time delay teaching in small-group arrangements was effective for children with developmental disabilities in teaching different pre-school academic skills using different stimuli. Furthermore, it was observed that the children acquired the skills more precisely through observational learning.
C1 [Aldemir, Ozgul; Gursel, Oguz] Anadolu Univ, Fac Educ, Dept Special Educ, Eskisehir, Turkey.
RP Aldemir, O (reprint author), Anadolu Univ, Fac Educ, Dept Special Educ, Eskisehir, Turkey.
EM oaldemir@anadolu.edu.tr; gurselogz@gmail.com
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NR 37
TC 0
Z9 0
PU EDAM
PI ISTANBUL
PA KISIKLI MH ALEMDAG CD YAN YOL SK, SBK IS MERKEZI NO 5, KAT 1 USKUDAR,
ISTANBUL, 81190, TURKEY
SN 1303-0485
J9 KURAM UYGUL EGIT BIL
JI Kuram Uygulamada Egit. Bilim.
PY 2014
VL 14
IS 2
BP 733
EP 740
PG 8
WC Education & Educational Research
SC Education & Educational Research
GA AI5MQ
UT WOS:000336911900016
ER
PT S
AU Wu, Q
Liu, J
Fang, A
Li, R
Bai, Y
Kriegstein, AR
Wang, XQ
AF Wu, Qian
Liu, Jing
Fang, Ai
Li, Rui
Bai, Ye
Kriegstein, Arnold R.
Wang, Xiaoqun
BE Nguyen, L
Hippenmeyer, S
TI The Dynamics of Neuronal Migration
SO CELLULAR AND MOLECULAR CONTROL OF NEURONAL MIGRATION
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
DE Neuronal migration; Neural stem cells; Radial Glia; Microtubules;
Neuronal migration disorders; Lissencephaly
ID NEURAL STEM-CELLS; CENTRAL-NERVOUS-SYSTEM; RADIAL GLIAL-CELLS;
CORTICAL-NEURONS; PROGENITOR CELLS; CEREBRAL-CORTEX; RAT MODEL; TYROSINE
PHOSPHORYLATION; ALZHEIMERS-DISEASE; ADULT BRAIN
AB Proper lamination of the cerebral cortex is precisely orchestrated, especially when neurons migrate from their place of birth to their final destination. The consequences of failure or delay in neuronal migration cause a wide range of disorders, such as lissencephaly, schizophrenia, autism and mental retardation. Neuronal migration is a dynamic process, which requires dynamic remodeling of the cytoskeleton. In this context microtubules and microtubule- related proteins have been suggested to play important roles in the regulation of neuronal migration. Here, we will review the dynamic aspects of neuronal migration and brain development, describe the molecular and cellular mechanisms of neuronal migration and elaborate on neuronal migration diseases.
C1 [Wu, Qian; Liu, Jing; Fang, Ai; Li, Rui; Bai, Ye; Wang, Xiaoqun] Chinese Acad Sci, Inst Biophys, Beijing 100101, Peoples R China.
[Kriegstein, Arnold R.] Eli & Edythe Broad Ctr Regenerat Med & Stem Cell, San Francisco, CA 94143 USA.
[Kriegstein, Arnold R.] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA.
RP Wang, XQ (reprint author), Chinese Acad Sci, Inst Biophys, 15 Datun Rd, Beijing 100101, Peoples R China.
EM xiaoqunwang@ibp.ac.cn
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NR 89
TC 5
Z9 5
PU SPRINGER
PI DORDRECHT
PA PO BOX 17, 3300 AA DORDRECHT, NETHERLANDS
SN 0065-2598
BN 978-94-007-7686-9; 978-94-007-7687-6
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 800
BP 25
EP 36
DI 10.1007/978-94-007-7687-6
D2 10.1007/978-94-007-7687-6
PG 12
WC Developmental Biology; Medicine, Research & Experimental; Neurosciences
SC Developmental Biology; Research & Experimental Medicine; Neurosciences &
Neurology
GA BA2LM
UT WOS:000333646000003
PM 24243098
ER
PT S
AU Breuss, M
Keays, DA
AF Breuss, Martin
Keays, David A.
BE Nguyen, L
Hippenmeyer, S
TI Microtubules and Neurodevelopmental Disease: The Movers and the Makers
SO CELLULAR AND MOLECULAR CONTROL OF NEURONAL MIGRATION
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
DE Microtubule; Cytoskeleton; Neurodevelopment; Neuronal migration;
Tubulinopathies
ID BETA-TUBULIN GENE; AUTISM SPECTRUM DISORDERS; SEPARATE MESSENGER-RNAS;
AMINO-ACID-SEQUENCE; ALPHA-TUBULIN; NEURONAL MIGRATION; CYTOPLASMIC
MICROTUBULES; GAMMA-TUBULIN; CAENORHABDITIS-ELEGANS;
ASPERGILLUS-NIDULANS
AB The development of the mammalian cortex requires the generation, migration and differentiation of neurons. Each of these cellular events requires a dynamic microtubule cytoskeleton. Microtubules are required for interkinetic nuclear migration, the separation of chromatids in mitosis, nuclear translocation during migration and the outgrowth of neurites. Their importance is underlined by the finding that mutations in a host of microtubule associated proteins cause detrimental neurological disorders. More recently, the structural subunits of microtubules, the tubulin proteins, have been implicated in a spectrum of human diseases collectively known as the tubulinopathies. This chapter reviews the discovery of microtubules, the role they play in neurodevelopment, and catalogues the tubulin isoforms associated with neurodevelopmental disease. Our focus is on the molecular and cellular mechanisms that underlie the pathology of tubulin-associated diseases. Finally, we reflect on whether different tubulin genes have distinct intrinsic functions.
C1 [Breuss, Martin; Keays, David A.] Inst Mol Pathol, A-1030 Vienna, Austria.
RP Keays, DA (reprint author), Inst Mol Pathol, Dr Bohr Gasse 7, A-1030 Vienna, Austria.
EM david.keays@imp.ac.at
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NR 141
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA PO BOX 17, 3300 AA DORDRECHT, NETHERLANDS
SN 0065-2598
BN 978-94-007-7686-9; 978-94-007-7687-6
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 800
BP 75
EP 96
DI 10.1007/978-94-007-7687-6_5
D2 10.1007/978-94-007-7687-6
PG 22
WC Developmental Biology; Medicine, Research & Experimental; Neurosciences
SC Developmental Biology; Research & Experimental Medicine; Neurosciences &
Neurology
GA BA2LM
UT WOS:000333646000006
PM 24243101
ER
PT J
AU Calabrese, P
Markowitsch, HJ
Carota, A
AF Calabrese, Pasquale
Markowitsch, Hans J.
Carota, Antonio
TI The Perception of Facial Emotions - Cues from the Left Amygdaloid
Complex
SO EUROPEAN NEUROLOGY
LA English
DT Article
DE Amygdala; Emotion; Facial expression
ID URBACH-WIETHE-DISEASE; FUNCTIONAL AMYGDALA; NEURAL RESPONSES;
EXPRESSIONS; FEAR; DAMAGE; ABSENCE; AUTISM; FACES; RECOGNITION
AB The history and the behavioral profile of 2 patients with brain abnormalities in the region of the left amygdaloidal complex might suggest that the dysfunction of the neural pathways related to the left amygdala has to occur at an early developmental stage to result in impaired emotional judgments of facial expressions. This is in line with the hypothesis that emotional information processing is based on a distributed neural network which, during ontogenesis, gradually expands from the amygdala and the amygdaloidal complex to further components of the limbic system. (C) 2014 S. Karger AG, Basel
C1 [Calabrese, Pasquale; Carota, Antonio] Univ Basel, Div Mol & Cognit Neurosci, CH-4055 Basel, Switzerland.
[Carota, Antonio] Genolier Clin, GSMN Neuroctr, Genolier, Switzerland.
[Markowitsch, Hans J.] Univ Bielefeld, Dept Physiol Psychol, D-33615 Bielefeld, Germany.
RP Calabrese, P (reprint author), Univ Basel, Fac Psychol, Div Mol & Cognit Neurosci, Birmannsgasse 8, CH-4055 Basel, Switzerland.
EM Pasquale.Calabrese@unibas.ch
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NR 39
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0014-3022
EI 1421-9913
J9 EUR NEUROL
JI Eur. Neurol.
PY 2014
VL 71
IS 5-6
BP 242
EP 246
DI 10.1159/000357204
PG 5
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AH8ZA
UT WOS:000336425800006
PM 24557332
ER
PT J
AU Class, QA
Abel, KM
Khashan, AS
Rickert, ME
Dalman, C
Larsson, H
Hultman, CM
Langstrom, N
Lichtenstein, P
D'Onofrio, BM
AF Class, Q. A.
Abel, K. M.
Khashan, A. S.
Rickert, M. E.
Dalman, C.
Larsson, H.
Hultman, C. M.
Langstrom, N.
Lichtenstein, P.
D'Onofrio, B. M.
TI Offspring psychopathology following preconception, prenatal and
postnatal maternal bereavement stress
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Attention deficit hyperactivity disorder; autism; postnatal;
preconception; prenatal; psychiatric; psychopathology; schizophrenia;
stress; suicide
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SEVERE LIFE EVENTS;
POPULATION-BASED COHORT; SUICIDAL-BEHAVIOR; PRETERM BIRTH; RISK-FACTORS;
PSYCHIATRIC-DISORDERS; SPECTRUM DISORDERS; DEPRESSED MOTHERS; HEALTH
OUTCOMES
AB Background. Preconception, prenatal and postnatal maternal stress is associated with increased offspring psychopathology, but findings are inconsistent and need replication. We estimated associations between maternal bereavement stress and offspring autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), bipolar disorder, schizophrenia, suicide attempt and completed suicide.
Method. Using Swedish registers, we conducted the largest population-based study to date examining associations between stress exposure in 738144 offspring born 1992-2000 for childhood outcomes and 2155221 offspring born 1973-1997 for adult outcomes with follow-up to 2009. Maternal stress was defined as death of a first-degree relative during (a) the 6 months before conception, (b) pregnancy or (c) the first two postnatal years. Cox proportional survival analyses were used to obtain hazard ratios (HRs) in unadjusted and adjusted analyses.
Results. Marginal increased risk of bipolar disorder and schizophrenia following preconception bereavement stress was not significant. Third-trimester prenatal stress increased the risk of ASD [ adjusted HR (aHR) 1.58, 95% confidence interval (CI) 1.15-2.17] and ADHD (aHR 1.31, 95% CI 1.04-1.66). First postnatal year stress increased the risk of offspring suicide attempt (aHR 1.13, 95% CI 1.02-1.25) and completed suicide (aHR 1.51, 95% CI 1.08-2.11). Bereavement stress during the second postnatal year increased the risk of ASD (aHR 1.30, 95% CI 1.09-1.55).
Conclusions. Further research is needed regarding associations between preconception stress and psychopathological outcomes. Prenatal bereavement stress increases the risk of offspring ASD and ADHD. Postnatal bereavement stress moderately increases the risk of offspring suicide attempt, completed suicide and ASD. Smaller previous studies may have overestimated associations between early stress and psychopathological outcomes.
C1 [Class, Q. A.; Rickert, M. E.; D'Onofrio, B. M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN 47405 USA.
[Abel, K. M.] Univ Manchester, Ctr Womens Mental Hlth, Manchester Acad Hlth Sci, Manchester M13 9PL, Lancs, England.
[Khashan, A. S.] Natl Univ Ireland Univ Coll Cork, Dept Obstet & Gynaecol, Anu Res Ctr, Cork, Ireland.
[Dalman, C.] Karolinska Inst, Dept Publ Hlth Sci, Div Publ Hlth Epidemiol, Stockholm, Sweden.
[Larsson, H.; Hultman, C. M.; Langstrom, N.; Lichtenstein, P.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Class, QA (reprint author), Indiana Univ, Dept Psychol & Brain Sci, 1101 East 10th St, Bloomington, IN 47405 USA.
EM qaclass@indiana.edu
FU National Institute of Mental Health [MH094011]; National Institute of
Child Health and Development [HD061817]; Swedish Council for Working
Life and Social Research; Swedish Research Council (Medicine); Swedish
Society of Medicine Soderstrom-Konigska sjukhemmet
FX The study was supported by grants from the National Institute of Mental
Health (MH094011), the National Institute of Child Health and
Development (HD061817), the Swedish Council for Working Life and Social
Research, the Swedish Research Council (Medicine) and the Swedish
Society of Medicine Soderstrom-Konigska sjukhemmet.
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NR 90
TC 5
Z9 5
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 JAN
PY 2014
VL 44
IS 1
BP 71
EP 84
DI 10.1017/S0033291713000780
PG 14
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AI2EX
UT WOS:000336671400008
PM 23591021
ER
PT J
AU Anholt, GE
Aderka, IM
van Balkom, AJLM
Smit, JH
Schruers, K
van der Wee, NJA
Eikelenboom, M
De Luca, V
van Oppen, P
AF Anholt, G. E.
Aderka, I. M.
van Balkom, A. J. L. M.
Smit, J. H.
Schruers, K.
van der Wee, N. J. A.
Eikelenboom, M.
De Luca, V.
van Oppen, P.
TI Age of onset in obsessive-compulsive disorder: admixture analysis with a
large sample
SO PSYCHOLOGICAL MEDICINE
LA English
DT Article
DE Admixture analysis; age of onset; obsessive-compulsive disorder
ID CLINICAL CHARACTERISTICS; SYMPTOM DIMENSIONS; BIPOLAR DISORDER; DSM-V;
ANXIETY; SUBTYPES; OCD; SEVERITY; FEATURES; AUTISM
AB Background. Research into age of onset in obsessive-compulsive disorder (OCD) has indicated significant differences between patients with early and late onset of the disorder. However, multiple criteria have been used arbitrarily for differentiating between early-and late-onset OCD, rendering inconsistent results that are difficult to interpret.
Method. In the current study, admixture analysis was conducted in a sample of 377 OC patients to determine the number of underlying populations of age of onset and associated demographic and clinical characteristics. Various measures of anxiety, depression, co-morbidity, autism, OCD, tics and attention deficit hyperactivity disorder (ADHD) symptoms were administered.
Results. A bimodal age of onset was established and the best-fitting cut-off score between early and late age of onset was 20 years (early age of onset 419 years). Patients with early age of onset were more likely to be single. Early age of onset patients demonstrated higher levels of OCD severity and increased symptoms on all OCD dimensions along with increased ADHD symptoms and higher rates of bipolar disorder.
Conclusions. It is suggested that 20 years is the recommended cut-off age for the determination of early versus late age of onset in OCD. Early age of onset is associated with a generally graver OCD clinical picture and increased ADHD symptoms and bipolar disorder rates, which may be related to greater functional implications of the disorder. We propose that age of onset could be an important marker for the subtyping of OCD.
C1 [Anholt, G. E.; van Balkom, A. J. L. M.; Smit, J. H.; Eikelenboom, M.; van Oppen, P.] Vrije Univ Amsterdam Med Ctr, Dept Psychiat, NL-1081 HL Amsterdam, Netherlands.
[Anholt, G. E.; van Balkom, A. J. L. M.; Smit, J. H.; Eikelenboom, M.; van Oppen, P.] Vrije Univ Amsterdam Med Ctr, EMGO Inst, NL-1081 HL Amsterdam, Netherlands.
[Anholt, G. E.; van Balkom, A. J. L. M.; Smit, J. H.; Eikelenboom, M.; van Oppen, P.] GGZ InGeest, Acad Outpatient Clin Anxiety Disorders, NL-1081 HL Amsterdam, Netherlands.
[Anholt, G. E.] Ben Gurion Univ Negev, Dept Psychol, IL-84105 Beer Sheva, Israel.
[Aderka, I. M.] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
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[Schruers, K.] Maastricht Univ, Acad Anxiety Ctr, PsyQ Maastricht, Maastricht, Netherlands.
[Schruers, K.] Maastricht Univ, Res Inst Mental Hlth & Neurosci, Maastricht, Netherlands.
[van der Wee, N. J. A.] Leiden Univ, Med Ctr, Dept Psychiat, Leiden, Netherlands.
[van der Wee, N. J. A.] Leiden Univ, Med Ctr, Leiden Inst Brain & Cognit, Leiden, Netherlands.
[De Luca, V.] Univ Toronto, Neurogenet Sect, Ctr Addict & Mental Hlth, Toronto, ON M5S 1A1, Canada.
RP Anholt, GE (reprint author), Vrije Univ Amsterdam Med Ctr, Dept Psychiat, AJ Ernststr 1187, NL-1081 HL Amsterdam, Netherlands.
EM ganholt@bgu.ac.il
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NR 48
TC 2
Z9 2
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 JAN
PY 2014
VL 44
IS 1
BP 185
EP 194
DI 10.1017/S0033291713000470
PG 10
WC Psychology, Clinical; Psychiatry; Psychology
SC Psychology; Psychiatry
GA AI2EX
UT WOS:000336671400017
PM 23517651
ER
PT J
AU Lee, SM
Gao, T
McCarthy, G
AF Lee, Su Mei
Gao, Tao
McCarthy, Gregory
TI Attributing intentions to random motion engages the posterior superior
temporal sulcus
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE fMRI; posterior superior temporal sulcus; intention attribution;
biological motion; social perception
ID SOCIAL-PERCEPTION; BRAIN; AUTISM; ACTIVATION; ANIMACY; FMRI; ATTENTION;
REGION
AB The right posterior superior temporal sulcus (pSTS) is a neural region involved in assessing the goals and intentions underlying the motion of social agents. Recent research has identified visual cues, such as chasing, that trigger animacy detection and intention attribution. When readily available in a visual display, these cues reliably activate the pSTS. Here, using functional magnetic resonance imaging, we examined if attributing intentions to random motion would likewise engage the pSTS. Participants viewed displays of four moving circles and were instructed to search for chasing or mirror-correlated motion. On chasing trials, one circle chased another circle, invoking the percept of an intentional agent; while on correlated motion trials, one circle's motion was mirror reflected by another. On the remaining trials, all circles moved randomly. As expected, pSTS activation was greater when participants searched for chasing vs correlated motion when these cues were present in the displays. Of critical importance, pSTS activation was also greater when participants searched for chasing compared to mirror-correlated motion when the displays in both search conditions were statistically identical random motion. We conclude that pSTS activity associated with intention attribution can be invoked by top-down processes in the absence of reliable visual cues for intentionality.
C1 [Lee, Su Mei; Gao, Tao; McCarthy, Gregory] Yale Univ, Dept Psychol, New Haven, CT 06520 USA.
RP McCarthy, G (reprint author), Yale Univ, Dept Psychol, POB 208205, New Haven, CT 06520 USA.
EM gregory.mccarthy@yale.edu
FU Yale University FAS Imaging Fund; National Institutes of Health
[MH05286]
FX We thank Rebecca Dyer, Miranda Farmer and Cora Mukerji for their help in
data collection. This work was supported by the Yale University FAS
Imaging Fund and by the National Institutes of Health (MH05286 to G.M.).
T.G. is currently at the Department of Brain and Cognitive Sciences at
MIT.
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NR 26
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 JAN
PY 2014
VL 9
IS 1
BP 81
EP 87
DI 10.1093/scan/nss110
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9TY
UT WOS:000336487400011
PM 22983598
ER
PT J
AU Kana, RK
Libero, LE
Hu, CP
Deshpande, HD
Colburn, JS
AF Kana, Rajesh K.
Libero, Lauren E.
Hu, Christi P.
Deshpande, Hrishikesh D.
Colburn, Jeffrey S.
TI Functional Brain Networks and White Matter Underlying Theory-of-Mind in
Autism
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE functional MRI; theory-of-mind; intentional causality; physical
causality; causal attribution; diffusion tensor imaging; fractional
anisotropy; functional connectivity; autism
ID TEMPORO-PARIETAL JUNCTION; MIRROR-NEURON SYSTEM; ASPERGER-SYNDROME;
SOCIAL COGNITION; SENTENCE COMPREHENSION; SPECTRUM DISORDERS;
PERSPECTIVE-TAKING; BODY EXPERIENCE; REVISED VERSION; NORMAL-CHILDREN
AB Human beings constantly engage in attributing causal explanations to one's own and to others actions, and theory-of-mind (ToM) is critical in making such inferences. Although children learn causal attribution early in development, children with autism spectrum disorders (ASDs) are known to have impairments in the development of intentional causality. This functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) study investigated the neural correlates of physical and intentional causal attribution in people with ASDs. In the fMRI scanner, 15 adolescents and adults with ASDs and 15 age-and IQ-matched typically developing peers made causal judgments about comic strips presented randomly in an event-related design. All participants showed robust activation in bilateral posterior superior temporal sulcus at the temporo-parietal junction (TPJ) in response to intentional causality. Participants with ASDs showed lower activation in TPJ, right inferior frontal gyrus and left premotor cortex. Significantly weaker functional connectivity was also found in the ASD group between TPJ and motor areas during intentional causality. DTI data revealed significantly reduced fractional anisotropy in ASD participants in white matter underlying the temporal lobe. In addition to underscoring the role of TPJ in ToM, this study found an interaction between motor simulation and mentalizing systems in intentional causal attribution and its possible discord in autism.
C1 [Kana, Rajesh K.; Libero, Lauren E.; Hu, Christi P.; Deshpande, Hrishikesh D.; Colburn, Jeffrey S.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235 G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU McNulty-Civitan Scientist Award; CCTS Pilot Grant [5UL1 RR025777]
FX This research was supported by the McNulty-Civitan Scientist Award and
the CCTS Pilot Grant (5UL1 RR025777) to R.K. The authors would like to
thank Eric Brunet for generously providing us with his stimulus set of
cartoon strip vignettes. The authors would also like to thank Laura
Klinger, Heather Wadsworth, Brittany Travers, Christopher Klein, Kathy
Pearson and Elizabeth Blum for their help with different aspects of this
study.
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NR 97
TC 17
Z9 17
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 JAN
PY 2014
VL 9
IS 1
BP 98
EP 105
DI 10.1093/scan/nss106
PG 8
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9TY
UT WOS:000336487400013
PM 22977198
ER
PT J
AU Tottenham, N
Hertzig, ME
Gillespie-Lynch, K
Gilhooly, T
Millner, AJ
Casey, BJ
AF Tottenham, Nim
Hertzig, Margaret E.
Gillespie-Lynch, Kristen
Gilhooly, Tara
Millner, Alexander J.
Casey, B. J.
TI Elevated amygdala response to faces and gaze aversion in autism spectrum
disorder
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE fMRI; amygdala; face expressions; autism spectrum disorders;
eye-tracking
ID HIGH-FUNCTIONING AUTISM; MEDIAL TEMPORAL-LOBE; ASPERGER-SYNDROME; FACIAL
EXPRESSIONS; EMOTIONAL FACES; FIXATION PATTERNS; NEURAL CIRCUITRY;
SOCIAL BRAIN; CHILDREN; FMRI
AB Autism spectrum disorders (ASD) are often associated with impairments in judgment of facial expressions. This impairment is often accompanied by diminished eye contact and atypical amygdala responses to face stimuli. The current study used a within-subjects design to examine the effects of natural viewing and an experimental eye-gaze manipulation on amygdala responses to faces. Individuals with ASD showed less gaze toward the eye region of faces relative to a control group. Among individuals with ASD, reduced eye gaze was associated with higher threat ratings of neutral faces. Amygdala signal was elevated in the ASD group relative to controls. This elevated response was further potentiated by experimentally manipulating gaze to the eye region. Potentiation by the gaze manipulation was largest for those individuals who exhibited the least amount of naturally occurring gaze toward the eye region and was associated with their subjective threat ratings. Effects were largest for neutral faces, highlighting the importance of examining neutral faces in the pathophysiology of autism and questioning their use as control stimuli with this population. Overall, our findings provide support for the notion that gaze direction modulates affective response to faces in ASD.
C1 [Tottenham, Nim; Gillespie-Lynch, Kristen] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Tottenham, Nim; Casey, B. J.] Weill Cornell Med Coll, Dept Psychiat, Sackler Inst Dev Psychobiol, New York, NY 10065 USA.
[Hertzig, Margaret E.] Weill Cornell Med Coll, Dept Psychiat, New York, NY 10065 USA.
[Gillespie-Lynch, Kristen] CUNY Coll Staten Isl, Dept Psychol, Staten Isl, NY 10314 USA.
[Gilhooly, Tara] St Johns Univ, Dept Psychol, Queens, NY 11439 USA.
[Millner, Alexander J.] Harvard Univ, Dept Psychol, Cambridge, MA 02138 USA.
RP Tottenham, N (reprint author), UCLA Psychol Dev, 1285 Franz Hall,Box 951563, Los Angeles, CA 90095 USA.
EM nimtottenham@ucla.edu
FU Autism Speaks-National Alliance for Autism Research; Sackler Institute
for Developmental Psychobiology
FX Many thanks to Douglas Ballon, Henning Voss, Weill Cornell Medical
College Citigroup Biomedical Imaging Center (Douglas Ballon, director)
and the individuals who participated in this study. Supported by Autism
Speaks-National Alliance for Autism Research and the Sackler Institute
for Developmental Psychobiology.
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NR 90
TC 11
Z9 11
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 JAN
PY 2014
VL 9
IS 1
BP 106
EP 117
DI 10.1093/scan/nst050
PG 12
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9TY
UT WOS:000336487400014
PM 23596190
ER
PT J
AU McNaughton, D
Rackensperger, T
Dorn, D
Wilson, N
AF McNaughton, David
Rackensperger, Tracy
Dorn, Dana
Wilson, Natasha
TI "Home is at work and work is at home": Telework and individuals who use
augmentative and alternative communication
SO WORK-A JOURNAL OF PREVENTION ASSESSMENT & REHABILITATION
LA English
DT Article
DE Employment; severe disability; cerebral palsy; autism; assistive
technology
ID DISABILITIES; PEOPLE; ACCESS; AAC; TECHNOLOGIES; LESSONS; ADULTS; NEEDS;
SAY
AB BACKGROUND: Telework, the use of distance communication technologies to participate in the workforce, has been suggested as a promising employment strategy for individuals with disabilities.
OBJECTIVE: The goal of this study was to obtain a better understanding of the benefits and negative impacts of telework, as well as the supports and challenges to telework activities, for persons who use augmentative and alternative communication (AAC).
METHODS: This study used a series of focus group discussions, conducted on the internet, to examine the employment experiences of nine individuals with disabilities who used AAC and who held jobs that involved the use of telework.
RESULTS: Four major themes emerged from the discussion: (a) benefits of telework, (b) negative impacts of telework, (c) strategies for addressing negative impacts of telework, and (d) recommendations for improving employment outcomes for individuals who use AAC.
CONCLUSIONS: In summary, while participants identified the elimination of travel time and flexible work schedules as key strengths of telework, concerns were expressed regarding feelings of isolation and the difficulty in separating home and work environments. The participants also emphasized the important role of educational programs in supporting the acquisition of literacy and self-advocacy skills, and the need for post-secondary programs to support the school-to-workplace transition.
C1 [McNaughton, David; Dorn, Dana; Wilson, Natasha] Penn State Univ, Dept Counseling & Educ Psychol & Special Educ, University Pk, PA 16802 USA.
[Rackensperger, Tracy] Univ Georgia, Inst Human Dev & Disabil, Athens, GA 30602 USA.
RP McNaughton, D (reprint author), Penn State Univ, Dept Counseling & Educ Psychol & Special Educ, 227 CEDAR Bldg, University Pk, PA 16802 USA.
EM dbm2@psu.edu
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NR 47
TC 0
Z9 0
PU IOS PRESS
PI AMSTERDAM
PA NIEUWE HEMWEG 6B, 1013 BG AMSTERDAM, NETHERLANDS
SN 1051-9815
EI 1875-9270
J9 WORK
JI Work
PY 2014
VL 48
IS 1
BP 117
EP 126
DI 10.3233/WOR-141860
PG 10
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AI3FM
UT WOS:000336746100013
PM 24763351
ER
PT S
AU Mendoza, JK
Baldwin, D
AF Mendoza, Jennifer K.
Baldwin, Dare
BE Benson, JB
TI Shining Light on Infants' Discovery of Structure
SO ADVANCES IN CHILD DEVELOPMENT AND BEHAVIOR, VOL 46
SE Advances in Child Development and Behavior
LA English
DT Article; Book Chapter
ID LANGUAGE IMPAIRMENT; BRAIN POTENTIALS; MISMATCH NEGATIVITY; MUSIC; RULE;
SPEECH; PERCEPTION; AUTISM; ERP; MMN
AB Learning and discovery seem often to begin with noting patterns. Human infants are skilled at pattern detection, even patterns only definable at an abstract level, which is key to their acquisition of complex knowledge systems such as language and music. However, research examining infants' abstract rule learning has generated inconsistent results. We propose that apparent domain differences in infants' abstract rule learning may be the result of extraneous stimulus variation and discrepancies in the methodologies employed across studies probing this skill. We discuss how a behavioral methodology indexing infants' online learning would be valuable in furthering understanding of infants' (as well as adults') abstract rule learning and its neurophysiological concomitants. We outline current research aimed at developing such an index, and we propose future research, pairing such techniques with neurophysiological methods, aimed at shining more light on human skill at discovering structure.
C1 [Mendoza, Jennifer K.; Baldwin, Dare] Univ Oregon, Dept Psychol, Eugene, OR 97403 USA.
RP Mendoza, JK (reprint author), Univ Oregon, Dept Psychol, Eugene, OR 97403 USA.
EM jmendoz4@uoregon.edu
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NR 62
TC 0
Z9 0
PU ELSEVIER ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0065-2407
BN 978-0-12-800285-8
J9 ADV CHILD DEV BEHAV
JI Adv. Child Develop. Behav.
PY 2014
VL 46
BP 113
EP 148
DI 10.1016/B978-0-12-800285-8.00005-4
PG 36
WC Psychology, Developmental
SC Psychology
GA BA2IO
UT WOS:000333432600006
PM 24851348
ER
PT J
AU Szymanska, K
Szczaluba, K
Lugowska, A
Obersztyn, E
Radkowski, M
Nowakowska, BA
Kusmierska, K
Tryfon, J
Demkow, U
AF Szymanska, Krystyna
Szczaluba, Krzysztof
Lugowska, Agnieszka
Obersztyn, Ewa
Radkowski, Marek
Nowakowska, Beata A.
Kusmierska, Katarzyna
Tryfon, Jolanta
Demkow, Urszula
TI The Analysis of Genetic Aberrations in Children with Inherited
Neurometabolic and Neurodevelopmental Disorders
SO BIOMED RESEARCH INTERNATIONAL
LA English
DT Article
ID GLOBAL DEVELOPMENTAL DELAY; TRANSCRIPTION FACTOR; C-MAF; MEF2C;
DYSTONIA; LANGUAGE; SPEECH; AUTISM; REGION
AB Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131) and MAF (OMIM 177075) (1 case), an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome), and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case). The two other cases represented progressing dystonia. Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants of GALC gene and the absence of mutations in PSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper.
C1 [Szymanska, Krystyna] Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, Poland.
[Szymanska, Krystyna] Med Univ Warsaw, Dept Child Psychiat, PL-00576 Warsaw, Poland.
[Szczaluba, Krzysztof] GenCtr Reg Ctr Clin Genet & Modern Technol, PL-25375 Kielce, Poland.
[Lugowska, Agnieszka] Inst Psychiat & Neurol, Dept Genet, PL-02957 Warsaw, Poland.
[Obersztyn, Ewa; Nowakowska, Beata A.] Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland.
[Radkowski, Marek] Med Univ Warsaw, Dept Immunopathol Infect Dis, PL-02091 Warsaw, Poland.
[Kusmierska, Katarzyna; Demkow, Urszula] Inst Mother & Child Hlth, Clin Child & Adolescent Neurol, PL-01211 Warsaw, Poland.
[Tryfon, Jolanta] Med Univ Warsaw, Dept Lab Diagnost & Clin Immunol, PL-00576 Warsaw, Poland.
RP Szymanska, K (reprint author), Polish Acad Sci, Mossakowski Med Res Ctr, Dept Clin & Expt Neuropathol, PL-02106 Warsaw, Poland.
EM szymanska2@wp.pl
CR Barbosa AC, 2008, P NATL ACAD SCI USA, V105, P9391, DOI 10.1073/pnas.0802679105
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NR 28
TC 0
Z9 0
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 2314-6133
EI 2314-6141
J9 BIOMED RES INT
JI Biomed Res. Int.
PY 2014
AR 424796
DI 10.1155/2014/424796
PG 8
WC Biotechnology & Applied Microbiology; Medicine, Research & Experimental
SC Biotechnology & Applied Microbiology; Research & Experimental Medicine
GA AH7KO
UT WOS:000336312200001
ER
PT J
AU Haron, MH
Khan, IA
Dasmahapatra, AK
AF Haron, Mona H.
Khan, Ikhlas A.
Dasmahapatra, Asok K.
TI Developmental regulation of neuroligin genes in Japanese ricefish
(Oryzias latipes) embryogenesis maintains the rhythm during
ethanol-induced fetal alcohol spectrum disorder
SO COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY
LA English
DT Article
DE Neuroligin; Fetal alcohol spectrum disorder; Ethanol; Development;
Japanese ricefish
ID CELL-ADHESION MOLECULE; EXPRESSION; NEUREXIN; SYNAPSE; ZEBRAFISH;
AUTISM; GROWTH; BEHAVIOR; ELEGANS; BINDING
AB Although prenatal alcohol exposure is the potential cause of fetal alcohol spectrum disorder (FASD) in humans, the molecular mechanism(s) of FASD is yet unknown. We have used Japanese ricefish (Otyzias latipes) embryogenesis as an animal model of FASD and reported that this model has effectively generated several phenotypic features in the cardiovasculature and neurocranial cartilages by developmental ethanol exposure which is analogous to human FASD phenotypes. As FASD is a neurobehavioral disorder, we are searching for a molecular target of ethanol that alters neurological functions. In this communication, we have focused on neuroligin genes (nlgn) which are known to be active at the postsynaptic side of both excitatory and inhibitory synapses of the central nervous system. There are six human NLGN homologs of Japanese ricefish reported in public data bases. We have partially cloned these genes and analyzed their expression pattern during normal development and also after exposing the embryos to ethanol. Our data indicate that the expression of all six nip genes in Japanese ricefish embryos is developmentally regulated. Although ethanol is able to induce developmental abnormalities in Japanese ricefish embryogenesis comparable to the FASD phenotypes, quantitative real-time PCR (qPCR) analysis of nlgn mRNAs indicate unresponsiveness of these genes to ethanol. We conclude that the disruption of the developmental rhythm of Japanese ricefish embryogenesis by ethanol that leads to FASD may not affect the nlgn gene expression at the message level. Published by Elsevier Inc.
C1 [Khan, Ikhlas A.; Dasmahapatra, Asok K.] Univ Mississippi, Natl Ctr Nat Prod Res, University, MS 38677 USA.
[Haron, Mona H.; Dasmahapatra, Asok K.] Univ Mississippi, Dept Pharmacol, University, MS 38677 USA.
RP Dasmahapatra, AK (reprint author), Univ Mississippi, Sch Pharm, Natl Ctr Nat Prod Res, University, MS 38677 USA.
EM asok@olemiss.edu
FU National Center for Natural Product Research (NCNPR); Department of
Pharmacology, School of Pharmacy, University of Mississippi, UM; United
States Department of Agriculture (USDA); Agriculture Research Service,
Specific Cooperative [58-6408-2-009]
FX We are grateful to Professor Larry Walker, Director, National Center for
Natural Product Research (NCNPR), School of Pharmacy, University of
Mississippi, for his kind interest, continuous encouragement and
generous support to the work. This study was partially supported by the
National Center for Natural Product Research and the Department of
Pharmacology, School of Pharmacy, University of Mississippi, UM. This
work was also supported by the United States Department of Agriculture
(USDA), Agriculture Research Service, Specific Cooperative Agreement no.
58-6408-2-009.
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NR 41
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1532-0456
EI 1878-1659
J9 COMP BIOCHEM PHYS C
JI Comp. Biochem. Physiol. C-Toxicol. Pharmacol.
PD JAN
PY 2014
VL 159
BP 62
EP 68
DI 10.1016/j.cbpc.2013.10.001
PG 7
WC Biochemistry & Molecular Biology; Endocrinology & Metabolism;
Toxicology; Zoology
SC Biochemistry & Molecular Biology; Endocrinology & Metabolism;
Toxicology; Zoology
GA AH9NZ
UT WOS:000336470400007
PM 24126235
ER
PT J
AU Hermetz, KE
Newman, S
Conneely, KN
Martin, CL
Ballif, BC
Shaffer, LG
Cody, JD
Rudd, MK
AF Hermetz, Karen E.
Newman, Scott
Conneely, Karen N.
Martin, Christa L.
Ballif, Blake C.
Shaffer, Lisa G.
Cody, Jannine D.
Rudd, M. Katharine
TI Large Inverted Duplications in the Human Genome Form via a Fold-Back
Mechanism
SO PLOS GENETICS
LA English
DT Article
ID CLEAVAGE-STAGE EMBRYOS; COPY-NUMBER VARIATION; FUSION-BRIDGE CYCLES;
GENE AMPLIFICATION; DNA-REPLICATION; NONRECURRENT REARRANGEMENTS;
SUBTELOMERIC REARRANGEMENTS; CHROMOSOME INSTABILITY; COMPLEX
REARRANGEMENTS; TERMINAL DELETIONS
AB Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are several models for inverted duplication formation, most of which include a dicentric chromosome intermediate followed by breakage-fusion-bridge (BFB) cycles, but the mechanisms that give rise to the inverted dicentric chromosome in most inverted duplications remain unknown. Here we have combined high-resolution array CGH, custom sequence capture, next-generation sequencing, and long-range PCR to analyze the breakpoints of 50 nonrecurrent inverted duplications in patients with intellectual disability, autism, and congenital anomalies. For half of the rearrangements in our study, we sequenced at least one breakpoint junction. Sequence analysis of breakpoint junctions reveals a normal-copy disomic spacer between inverted and non-inverted copies of the duplication. Further, short inverted sequences are present at the boundary of the disomic spacer and the inverted duplication. These data support a mechanism of inverted duplication formation whereby a chromosome with a double-strand break intrastrand pairs with itself to form a "fold-back'' intermediate that, after DNA replication, produces a dicentric inverted chromosome with a disomic spacer corresponding to the site of the fold-back loop. This process can lead to inverted duplications adjacent to terminal deletions, inverted duplications juxtaposed to translocations, and inverted duplication ring chromosomes.
C1 [Hermetz, Karen E.; Newman, Scott; Conneely, Karen N.; Martin, Christa L.; Rudd, M. Katharine] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Conneely, Karen N.] Emory Univ, Sch Publ Hlth, Dept Biostat & Epidemiol, Atlanta, GA USA.
[Ballif, Blake C.; Shaffer, Lisa G.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA.
[Cody, Jannine D.] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 78229 USA.
[Cody, Jannine D.] Chromosome 18 Registry & Res Soc, San Antonio, TX USA.
RP Hermetz, KE (reprint author), Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
EM katie.rudd@emory.edu
FU NIH [MH092902]
FX This study was supported by a grant from the NIH (MH092902 to MKR). 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 69
TC 8
Z9 8
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 JAN
PY 2014
VL 10
IS 1
AR e1004139
DI 10.1371/journal.pgen.1004139
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA AI0GU
UT WOS:000336525000072
PM 24497845
ER
PT J
AU Barnard-Brak, L
Thompson, S
Wei, TL
Richman, D
AF Barnard-Brak, Lucy
Thompson, Samuel
Wei, Tianlan
Richman, David
TI Assistive Technology as a Predictor of General or Alternate Assessment
Among Elementary-aged Students With Autism Spectrum Disorders
SO ASSISTIVE TECHNOLOGY
LA English
DT Article
DE assessment and recommendation practices; assistive technology; education
ID DISABILITIES; IMPACT
AB The No Child Left Behind Act of 2001 specifically mandates that all students participate in the general assessment process or some form of alternate assessment as a measure of school accountability for student academic progress. Although levels of communication difficulties, intellectual impairment, and specific diagnoses such as autism spectrum disorders (ASDs) are correlated with increased probability of participating in alternate assessment methods, very little empirical research has focused on identifying predictors for students' assessment modality. Archival data from the Special Education Elementary Longitudinal Study (SEELS; 2005) were used to examine variables that predict whether elementary school students with ASD participated in the general or alternate assessment. Results indicated that receptive and expressive communication abilities appear to influence participation in the general vs. alternate assessment in tandem with access to assistive technology. Students with ASDs were approximately 2.71 times more likely to participate in the general assessment when they had access to assistive technology. Next, we performed a second, follow-up analysis for only ASD students with communication problems. The odds ratio value increased to 14.9 indicating that ASD students with communication problems that had access to assistive technology were almost 15 times more likely to participate in the general assessment than students with communication problems without access to assistive technology.
C1 [Barnard-Brak, Lucy; Thompson, Samuel; Wei, Tianlan; Richman, David] Texas Tech Univ, Lubbock, TX 79409 USA.
RP Barnard-Brak, L (reprint author), Texas Tech Univ, POB 41071, Lubbock, TX 79409 USA.
EM lucy.barnard-brak@ttu.edu
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NR 27
TC 0
Z9 0
PU R E S N A PRESS
PI ARLINGTON
PA 1700 MOORE ST, STE 1540, ARLINGTON, VA 22209-1903 USA
SN 1040-0435
EI 1949-3614
J9 ASSIST TECHNOL
JI Assist. Technol.
PY 2014
VL 26
IS 2
BP 81
EP 87
DI 10.1080/10400435.2013.833557
PG 7
WC Rehabilitation
SC Rehabilitation
GA AH2SS
UT WOS:000335972000003
PM 25112052
ER
PT J
AU McLaren, SJ
Page, WH
Parker, L
Rushton, M
AF McLaren, Stuart J.
Page, Wyatt H.
Parker, Lou
Rushton, Martin
TI Noise Producing Toys and the Efficacy of Product Standard Criteria to
Protect Health and Education Outcomes
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE noise; toy safety; autism; ISO standards; consumer products
ID CHILDREN; CLASSROOM; LEVEL; RISK
AB An evaluation of 28 commercially available toys imported into New Zealand revealed that 21% of these toys do not meet the acoustic criteria in the ISO standard, ISO 8124-1:2009 Safety of Toys, adopted by Australia and New Zealand as AS/NZS ISO 8124.1:2010. While overall the 2010 standard provided a greater level of protection than the earlier 2002 standard, there was one high risk toy category where the 2002 standard provided greater protection. A secondary set of toys from the personal collections of children known to display atypical methods of play with toys, such as those with autism spectrum disorders (ASD), was part of the evaluation. Only one of these toys cleanly passed the 2010 standard, with the remainder failing or showing a marginal-pass. As there is no tolerance level stated in the standards to account for interpretation of data and experimental error, a value of +2 dB was used. The findings of the study indicate that the current standard is inadequate in providing protection against excessive noise exposure. Amendments to the criteria have been recommended that apply to the recently adopted 2013 standard. These include the integration of the new approaches published in the recently amended European standard (EN 71) on safety of toys.
C1 [McLaren, Stuart J.; Page, Wyatt H.] Massey Univ, Coll Hlth, Wellington 6140, New Zealand.
[Parker, Lou; Rushton, Martin] Minist Business Innovat & Employment, Measurement & Prod Safety Serv, Wellington 6140, New Zealand.
RP McLaren, SJ (reprint author), Massey Univ, Coll Hlth, POB 756, Wellington 6140, New Zealand.
EM s.j.mclaren@massey.ac.nz; w.h.page@massey.ac.nz;
lou.parker@mbie.govt.nz; martin.rushton@mbie.govt.nz
FU MBIE
FX The authors would like to thank MBIE (formerly the Ministry of Consumer
Affairs) for the sponsorship and support of this project.
CR [Anonymous], TOYS SAF EUR STAND
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NR 27
TC 0
Z9 0
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 JAN
PY 2014
VL 11
IS 1
BP 47
EP 66
DI 10.3390/ijerph110100047
PG 20
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AB0BI
UT WOS:000331456400004
PM 24452254
ER
PT J
AU Grigore, AA
Rusu, AS
AF Grigore, Andreea A.
Rusu, Alina S.
TI Interaction with a Therapy Dog Enhances the Effects of Social Story
Method in Autistic Children
SO SOCIETY & ANIMALS
LA English
DT Article
DE ASD children; human-animal interaction; Social Story method;
animal-assisted activity
ID DEFICITS; SKILLS
AB This study explored the effects of a combination between two methods that have proved to enhance the social abilities of autistic children Social Story and Animal Assisted Therapy. The main hypothesis of this investigation was that a naturally enriched social environment (i.e., the presence of a therapy dog) improves the effectiveness of Social Story method. Two social skills were targeted: (1) the ability to greet a social partner and (2) the ability to introduce oneself to a social partner, by using a standard single-subject research design. Three preschool autistic children were included in the study. The dependent variables were the frequency of the appropriate social interactions relevant to the target social skill, the level of prompt needed to provide the expected social response, and the frequency of social initiations. The presence of the therapy dog while reading the social story increased the frequency of social initiations and decreased the level of social prompt needed to elicit social responses from children with autism.
C1 [Grigore, Andreea A.] Autism Transilvania Assoc, Res Dept, Gheorghe Marinescu, Romania.
[Rusu, Alina S.] Univ Babes Bolyai, Dept Special Educ, Fac Psychol & Sci Educ, R-3400 Cluj Napoca, Romania.
RP Grigore, AA (reprint author), Autism Transilvania Assoc, Res Dept, Gheorghe Marinescu, Romania.
EM alina.rusu@ubbcluj.ro
FU CNCS-UEFISCDI [PN-II-RU-TE-2011-3-0080]
FX The participation of Alina Simona Rusu in this research was supported by
CNCS-UEFISCDI, project number PN-II-RU-TE-2011-3-0080. The authors would
like to thank the Autism Transilvania Association (Cluj-Napoca, Romania)
for facilitating the participation of the three autistic children in
this investigation.
CR Autism Transilvania Association, 2011, DESCR DAIL CTR AUT T
Barol J. M., 2006, EFFECTS ANIMAL ASSIS
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NR 36
TC 0
Z9 0
PU BRILL ACADEMIC PUBLISHERS
PI LEIDEN
PA PLANTIJNSTRAAT 2, P O BOX 9000, 2300 PA LEIDEN, NETHERLANDS
SN 1063-1119
EI 1568-5306
J9 SOC ANIM
JI Soc. Anim.
PY 2014
VL 22
IS 3
BP 241
EP 261
DI 10.1163/15685306-12341326
PG 21
WC Sociology; Veterinary Sciences
SC Sociology; Veterinary Sciences
GA AH2FV
UT WOS:000335937800002
ER
PT J
AU Smirnova, L
Hogberg, HT
Leist, M
Hartung, T
AF Smirnova, Lena
Hogberg, Helena T.
Leist, Marcel
Hartung, Thomas
TI Developmental Neurotoxicity - Challenges in the 21st Century and In
Vitro Opportunities
SO ALTEX-ALTERNATIVES TO ANIMAL EXPERIMENTATION
LA English
DT Article
DE environmental exposure; developmental neurotoxicity; species
extrapolation; predictivity
ID EMBRYONIC STEM-CELLS; NEURODEVELOPMENTAL END-POINTS;
CENTRAL-NERVOUS-SYSTEM; EXPERT WORKING GROUP; RETROSPECTIVE PERFORMANCE
ASSESSMENT; METHYLMERCURY-INDUCED NEUROTOXICITY; AUTISM SPECTRUM
DISORDERS; NEURAL PROGENITOR CELLS; DOSE-RESPONSE ANALYSIS; TEST
GUIDELINE 426
AB In recent years neurodevelopmental problems in children have increased at a rate that suggests lifestyle factors and chemical exposures as likely contributors. When environmental chemicals contribute to neurodevelopmental disorders developmental neurotoxicity (DNT) becomes an enormous concern. But how can it be tackled? Current animal test-based guidelines are prohibitively expensive, at $1.4 million per substance, while their predictivity for human health effects may be limited, and mechanistic data that would help species extrapolation are not available. A broader screening for substances of concern requires a reliable testing strategy, applicable to larger numbers of substances, and sufficiently predictive to warrant further testing. This review discusses the evidence for possible contributions of environmental chemicals to DNT, limitations of the current test paradigm, emerging concepts and technologies pertinent to in vitro DNT testing and assay evaluation, as well as the prospect of a paradigm shift based on 21st century technologies.
C1 [Smirnova, Lena; Hogberg, Helena T.; Hartung, Thomas] Johns Hopkins Bloomberg Sch Publ Hlth, Ctr Alternat Anim Testing, Baltimore, MD 21205 USA.
[Leist, Marcel; Hartung, Thomas] Univ Konstanz, Constance, Germany.
RP Hartung, T (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Ctr Alternat Anim Testing, 615 North Wolfe St, Baltimore, MD 21205 USA.
EM thartung@jhsph.edu
RI Leist, Marcel/D-2133-2010
OI Leist, Marcel/0000-0002-3778-8693
FU Doerenkamp-Zbinden Foundation; FP7 EU program ESNATS; NIH Transformative
Research Grant "Mapping the Human Toxome by Systems Toxicology"
[R01ES020750]; FDA [U01FD004230]
FX We are grateful to many colleagues for insightful discussions and
comments. This work was supported by grants from the Doerenkamp-Zbinden
Foundation (M. L. and T. H.), the FP7 EU program ESNATS (M. L.), the NIH
Transformative Research Grant "Mapping the Human Toxome by Systems
Toxicology" (R01ES020750, T. H.), and FDA grant "DNTox-21c
Identification of pathways of developmental neurotoxicity for high
throughput testing by metabolomics" (U01FD004230, H.H. and T.H.).
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NR 228
TC 7
Z9 7
PU SPEKTRUM AKADEMISCHER VERLAG-SPRINGER-VERLAG GMBH
PI HEILDEBERG
PA TIERGARTENSTRASSE 17, HEILDEBERG, 69121, GERMANY
SN 1868-596X
EI 1868-8551
J9 ALTEX-ALTERN ANIM EX
JI ALTEX-Altern. Anim. Exp.
PY 2014
VL 31
IS 2
BP 129
EP 156
PG 28
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AG1WQ
UT WOS:000335207300003
PM 24687333
ER
PT J
AU Stoicescu, RM
Mihai, CM
Arghir, O
Cambrea, C
Halichidis, S
Lilios, G
AF Stoicescu, R. M.
Mihai, C. M.
Arghir, O.
Cambrea, C.
Halichidis, S.
Lilios, G.
TI SOIL INGESTION AMONG CHILDREN FROM THE CONSTANTA COUNTY DURING 2002-2012
SO JOURNAL OF ENVIRONMENTAL PROTECTION AND ECOLOGY
LA English
DT Article
DE helminths; geophagia; gastroenteritis
ID IMPACT; HEALTH; AREA; OVA
AB Children could be at risk if they eat soil because it is contaminated with bacteria, nematodes or chemical compounds. Eating soil, sand or mud is not always dangerous, but in some situations could reflect associated disorders such as anemia, rickets, malnutrition, autism, developmental delay or can determine several diseases. Our objective was to determine the relationship between the history of eating soil, sand, mud and the clinical symptoms and laboratory data in such children. We investigated the database of our Pediatric Department retrospectively, searching for children with history of eating soil, during 2002 to 2012. Out of total number of patients admitted in our department (73 592) during 10 years, 2976 came with a history of eating soil. From these, 851 patients were diagnosed with several diseases: 125 were infected with Toxocara canis, 89 with Ascaris lumbricoides, 255 were diagnosed with geophagia (pica), 3 with hemolytic uremia syndrome and 379 with gastroenteritis. Children with geophagia were anemic in proportion of 69.01% (177 cases), 38 were diagnosed with malnutrition, 25 with combined deficiencies (iron-deficiency anemia, rickets and malnutrition), 15 with developmental delay. 2134 children were from the countryside, 842 from Constanta and several small towns of the Constanta county. Mean hospital stay was 5.9 days. None was diagnosed with chemical poisoning secondary to soil ingestion because until recently the tracer methodology was not used. Epidemiological studies are necessary using a valid soil tracer methodology.
C1 [Stoicescu, R. M.; Lilios, G.] Ovidius Univ Constanta, Fac Pharm, Constanta, Romania.
[Mihai, C. M.; Arghir, O.; Cambrea, C.; Halichidis, S.] Ovidius Univ Constanta, Fac Med, Constanta, Romania.
RP Mihai, CM (reprint author), Ovidius Univ Constanta, Fac Med, 1 Al Univ, Constanta, Romania.
EM stoicescu.ramona@gmail.com
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BLINDER B. J., 2008, PSYCH TIMES, V25
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NR 16
TC 1
Z9 1
PU SCIBULCOM LTD
PI SOFIA
PA PO BOX 249, 1113 SOFIA, BULGARIA
SN 1311-5065
J9 J ENVIRON PROT ECOL
JI J. Environ. Prot. Ecol.
PY 2014
VL 15
IS 1
BP 321
EP 325
PG 5
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AE6TQ
UT WOS:000334131100041
ER
PT J
AU Malhi, P
Singhi, P
AF Malhi, Prahbhjot
Singhi, Pratibha
TI A retrospective study of toddlers with autism spectrum disorder:
Clinical and developmental profile
SO ANNALS OF INDIAN ACADEMY OF NEUROLOGY
LA English
DT Article
DE Autism spectrum disorders; development; India; toddlers
ID YOUNG-CHILDREN; RECOGNITION; INFANTS; DIAGNOSIS; RISK; LIFE; AGE
AB Objective: To retrospectively examine the developmental and clinical characteristics of children with autism spectrum disorders (ASD) in the first 2 years of life in order to narrow the interval between parental concern and getting a reliable diagnosis of autism. Materials and Methods: The case records of 21 children in whom a diagnosis of ASD was made in the first 2 years of life and confirmed 6 months to 1 year later were examined. The inclusion criterion was absence of neurological, metabolic, or genetic disorders and sensory or motor impairments. These case records were maintained in the Pediatric Psychology Clinic at the Department of Pediatrics of a tertiary care teaching hospital in North India. Results: The average age at presentation to the clinic was 21.23 months (SD = 2.18). The clinical characteristics that were found in two-thirds or more children included lack of speech, inability to follow verbal commands, lack of pretend play, no index finger pointing, difficulty in playing with toys in a constructive manner, lack of joint attention, and motor stereotypies. The mean IQ was 66.62 (SD = 15.11) and the mean SQ as measured by the Vineland Social Maturity Scale was 80.43 (SD = 17.45). Conclusions: Given the validity of early diagnosis over time, clinicians should be encouraged not only to make an early diagnosis but also to initiate early interventions in children with ASD.
C1 [Malhi, Prahbhjot; Singhi, Pratibha] Post Grad Inst Med Educ & Res, Dept Pediat, Chandigarh 160012, India.
RP Malhi, P (reprint author), Post Grad Inst Med Educ & Res, Dept Pediat, Sect 12, Chandigarh 160012, India.
EM pmalhi18@hotmail.com
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NR 33
TC 0
Z9 0
PU MEDKNOW PUBLICATIONS & MEDIA PVT LTD
PI MUMBAI
PA B-9, KANARA BUSINESS CENTRE, OFF LINK RD, GHAKTOPAR-E, MUMBAI, 400075,
INDIA
SN 0972-2327
EI 1998-3549
J9 ANN INDIAN ACAD NEUR
JI Ann. Indian Acad. Neurol.
PD JAN-MAR
PY 2014
VL 17
IS 1
BP 25
EP 29
DI 10.4103/0972-2327.128537
PG 5
WC Clinical Neurology
SC Neurosciences & Neurology
GA AF6OZ
UT WOS:000334835700006
PM 24753655
ER
PT J
AU Shetty, AN
Chiang, S
Maletic-Savatic, M
Kasprian, G
Vannucci, M
Lee, W
AF Shetty, Anil N.
Chiang, Sharon
Maletic-Savatic, Mirjana
Kasprian, Gregor
Vannucci, Marina
Lee, Wesley
TI Spatial Mapping of Translational Diffusion Coefficients Using Diffusion
Tensor Imaging: A Mathematical Description
SO CONCEPTS IN MAGNETIC RESONANCE PART A
LA English
DT Article
DE diffusion; diffusion anisotropy; diffusion tensor; tractography
ID AUTISM SPECTRUM DISORDERS; MULTIPLE FIBER ORIENTATIONS; GRADIENT
ENCODING-SCHEMES; WHITE-MATTER; MAGNETIC-RESONANCE; WEIGHTED MRI;
ANISOTROPY INDEXES; SCLEROSIS PATIENTS; WATER DIFFUSION; 2-TENSOR MODEL
AB In this article, we discuss the theoretical background for diffusion weighted imaging and diffusion tensor imaging. Molecular diffusion is a random process involving thermal Brownian motion. In biological tissues, the underlying microstructures restrict the diffusion of water molecules, making diffusion directionally dependent. Water diffusion in tissue is mathematically characterized by the diffusion tensor, the elements of which contain information about the magnitude and direction of diffusion and is a function of the coordinate system. Thus, it is possible to generate contrast in tissue based primarily on diffusion effects. Expressing diffusion in terms of the measured diffusion coefficient (eigenvalue) in any one direction can lead to errors. Nowhere is this more evident than in white matter, due to the preferential orientation of myelin fibers. The directional dependency is removed by diagonalization of the diffusion tensor, which then yields a set of three eigenvalues and eigenvectors, representing the magnitude and direction of the three orthogonal axes of the diffusion ellipsoid, respectively. For example, the eigenvalue corresponding to the eigenvector along the long axis of the fiber corresponds qualitatively to diffusion with least restriction. Determination of the principal values of the diffusion tensor and various anisotropic indices provides structural information. We review the use of diffusion measurements using the modified Stejskal-Tanner diffusion equation. The anisotropy is analyzed by decomposing the diffusion tensor based on symmetrical properties describing the geometry of diffusion tensor. We further describe diffusion tensor properties in visualizing fiber tract organization of the human brain. (c) 2014 Wiley Periodicals, Inc. Concepts Magn Reson Part A 43A: 1-27, 2014.
C1 [Shetty, Anil N.; Kasprian, Gregor; Lee, Wesley] Baylor Coll Med, Dept Obstet & Gynecol, Texas Childrens Pavil Women, Houston, TX 77030 USA.
[Chiang, Sharon; Vannucci, Marina] Rice Univ, Dept Stat, Houston, TX 77251 USA.
[Maletic-Savatic, Mirjana] Texas Childrens Hosp, Dept Pediat, Program Dev Biol, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA.
[Maletic-Savatic, Mirjana] Texas Childrens Hosp, Dept Neurosci, Program Dev Biol, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA.
RP Shetty, AN (reprint author), Baylor Coll Med, Dept Obstet & Gynecol, Texas Childrens Pavil Women, Houston, TX 77030 USA.
EM ashetty@bcm.edu
FU Department of Obstetrics and Gynecology at Baylor College of Medicine;
Texas Children's Hospital; McKnight Endowment for Science, Virginia;
L.E. Simmons Foundation; Nancy Chang Award for Research Excellence
FX The funding for this work was supported in part by the Department of
Obstetrics and Gynecology at Baylor College of Medicine and Texas
Children's Hospital (AS, WL, and GK); and McKnight Endowment for
Science, Virginia and L.E. Simmons Foundation, and Nancy Chang Award for
Research Excellence (M.M-S.).
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NR 98
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1546-6086
EI 1552-5023
J9 CONCEPT MAGN RESON A
JI Concepts Magn. Reson. Part A
PD JAN
PY 2014
VL 43
IS 1
BP 1
EP 27
DI 10.1002/cmr.a.21288
PG 27
WC Chemistry, Physical; Physics, Atomic, Molecular & Chemical; Radiology,
Nuclear Medicine & Medical Imaging; Spectroscopy
SC Chemistry; Physics; Radiology, Nuclear Medicine & Medical Imaging;
Spectroscopy
GA AE9EH
UT WOS:000334307000001
ER
PT J
AU Savarese, RJ
Zunshine, L
AF Savarese, Ralph James
Zunshine, Lisa
TI The Critic as Neurocosmopolite; Or, What Cognitive Approaches to
Literature Can Learn from Disability Studies: Lisa Zunshine in
Conversation with Ralph James Savarese
SO NARRATIVE
LA English
DT Article
ID AUTISM; THINKING
C1 [Savarese, Ralph James] Duke Univ, Inst Brain Sci, Durham, NC 27706 USA.
[Savarese, Ralph James] Grinnell Coll, Grinnell, IA 50112 USA.
[Zunshine, Lisa] Univ Kentucky, Lexington, KY 40506 USA.
RP Savarese, RJ (reprint author), Duke Univ, Inst Brain Sci, Durham, NC 27706 USA.
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NR 63
TC 0
Z9 0
PU OHIO STATE UNIV PRESS
PI COLUMBUS
PA 1050 CARMACK RD, COLUMBUS, OH 43210 USA
SN 1063-3685
EI 1538-974X
J9 NARRATIVE
JI Narrative
PD JAN
PY 2014
VL 22
IS 1
BP 17
EP 44
PG 28
WC Literature
SC Literature
GA AF3ZX
UT WOS:000334652300002
ER
PT J
AU Emerson, A
Ponte, L
Jerome, L
Doblin, R
AF Emerson, Amy
Ponte, Linnae
Jerome, Lisa
Doblin, Rick
TI History and Future of the Multidisciplinary Association for Psychedelic
Studies (MAPS)
SO JOURNAL OF PSYCHOACTIVE DRUGS
LA English
DT Article
DE harm reduction; LSD; MDMA; psychotherapy; PTSD
ID POSTTRAUMATIC-STRESS-DISORDER;
3,4-METHYLENEDIOXYMETHAMPHETAMINE-ASSISTED PSYCHOTHERAPY;
NONHUMAN-PRIMATES; CONTROLLED-TRIAL; MDMA ECSTASY; HUMANS; PTSD;
EFFICACY; SAFETY; RESISTANT
AB This article describes the teenage vision of the founder of the Multidisciplinary Association for Psychedelic Studies (MAPS) that humanity's future would be aided by the therapeutic and spiritual potential of psychedelic substances. The article traces the trajectory of MAPS from inception in 1986 to its present, noting future goals with respect to research, outreach, and harm reduction. MAPS was created as a non-profit psychedelic pharmaceutical company in response to the 1985 scheduling of 3,4-methylenedioxymethamphetamine (MDMA). Overcoming many hurdles, MAPS developed the first double-blind, placebo-controlled trial of MDMA-assisted psychotherapy for posttraumatic stress disorder (PTSD) and plans for FDA prescription approval in 2021. MAPS' program of research expanded to include a trial of lysergic acid diethylamide (LSD)-assisted psychotherapy for anxiety when facing life-threatening illness, observational studies of ibogaine in the treatment of addiction, and studies of MDMA for social anxiety in people with autism spectrum disorders. MAPS meets the challenges of drug development through a clinical research team led by a former Novartis drug development professional experienced in the conduct, monitoring, and analysis of clinical trials. MAPS' harm-reduction efforts are intended to avoid backlash and build a post-prohibition world by assisting non-medical users to transform difficult psychedelic experiences into opportunities for growth.
C1 [Emerson, Amy; Ponte, Linnae; Jerome, Lisa; Doblin, Rick] Multidisciplinary Assoc Psychedel Studies, Santa Cruz, CA USA.
RP Doblin, R (reprint author), 3 Francis St, Belmont, MA 02478 USA.
EM rick@maps.org
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NR 38
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0279-1072
EI 2159-9777
J9 J PSYCHOACTIVE DRUGS
JI J. Psychoact. Drugs
PD JAN-MAR
PY 2014
VL 46
IS 1
BP 27
EP 36
DI 10.1080/02791072.2014.877321
PG 10
WC Psychology, Clinical; Substance Abuse
SC Psychology; Substance Abuse
GA AE5JN
UT WOS:000334024500005
PM 24830183
ER
PT J
AU Theoharis, G
Causton, J
AF Theoharis, George
Causton, Julie
TI Leading Inclusive Reform for Students With Disabilities: A School- and
Systemwide Approach
SO THEORY INTO PRACTICE
LA English
DT Article
AB It is of great importance to maximize access to general education for all students with disabilities. This article focuses on how leaders create inclusive schools for all students-inclusive school reform. Inclusive school reform can result in all students with disabilities being placed into general education settings (including students with significant disabilities, students with mild disabilities, students with emotional disabilities, students with autism ... all students) and providing inclusive services to meet their needs while eliminating pullout or self-contained special education programs. In this article, we outline a 7-part process, as well as a set of tools for schools to use to create authentically inclusive schools.
C1 [Theoharis, George] Syracuse Univ, Sch Educ, Syracuse, NY 13244 USA.
[Theoharis, George] Syracuse Univ, Dept Teaching & Leadership, Syracuse, NY 13244 USA.
[Causton, Julie] Syracuse Univ, Sch Educ, Dept Teaching & Leadership, Syracuse, NY 13244 USA.
RP Theoharis, G (reprint author), Syracuse Univ, Sch Educ, Dept Teaching & Leadership, 153 Huntington Hall, Syracuse, NY 13244 USA.
EM gtheohar@syr.edu
CR Capper C., 2000, M NEEDS STUDENTS ALL
Capper C. A., 2008, M NEEDS STUDENTS ALL
Cosier M., 2010, THESIS SYRACUSE U SY
McLeskey J, 2002, PHI DELTA KAPPAN, V84, P65
Pearpoint J., 1993, PATH WORKBOOK PLANNI
Peterson J. M., 2003, INCLUSIVE TEACHING C
Riehl CJ, 2000, REV EDUC RES, V70, P55
Theoharis G., 2009, LEADERSHIP OUR CHILD
NR 8
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0040-5841
EI 1543-0421
J9 THEOR PRACT
JI Theory Pract.
PY 2014
VL 53
IS 2
SI SI
BP 82
EP 97
DI 10.1080/00405841.2014.885808
PG 16
WC Education & Educational Research
SC Education & Educational Research
GA AE7NX
UT WOS:000334185900002
ER
PT J
AU Feczko, E
Shulman, GL
Petersen, SE
Pruett, JR
AF Feczko, Eric
Shulman, Gordon L.
Petersen, Steven E.
Pruett, John R., Jr.
TI Interactions between concentric form-from-structure and face perception
revealed by visual masking but not adaptation
SO JOURNAL OF VISION
LA English
DT Article
DE face perception; Glass patterns; visual adaptation; visual masking;
moire perception; holistic processing
ID AUTISM SPECTRUM DISORDER; INFERIOR TEMPORAL CORTEX; GLASS PATTERNS;
THATCHER ILLUSION; FUSIFORM GYRUS; GLOBAL FORM; MACAQUE; RECOGNITION;
ORIENTATION; MECHANISMS
AB Findings from diverse subfields of vision research suggest a potential link between high-level aspects of face perception and concentric form-from-structure perception. To explore this relationship, typical adults performed two adaptation experiments and two masking experiments to test whether concentric, but not nonconcentric, Glass patterns (a type of form-from-structure stimulus) utilize a processing mechanism shared by face perception. For the adaptation experiments, subjects were presented with an adaptor for 5 or 20 s, prior to discriminating a target. In the masking experiments, subjects saw a mask, then a target, and then a second mask. Measures of discriminability and bias were derived and repeated measures analysis of variance tested for pattern-specific masking and adaptation effects. Results from Experiment 1 show no Glass pattern-specific effect of adaptation to faces; results from Experiment 2 show concentric Glass pattern masking, but not adaptation, may impair upright/inverted face discrimination; results from Experiment 3 show concentric and radial Glass pattern masking impaired subsequent upright/inverted face discrimination more than translational Glass pattern masking; and results from Experiment 4 show concentric and radial Glass pattern masking impaired subsequent face gender discrimination more than translational Glass pattern masking. Taken together, these findings demonstrate interactions between concentric form-from-structure and face processing, suggesting a possible common processing pathway.
C1 [Feczko, Eric; Pruett, John R., Jr.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
[Feczko, Eric] Emory Univ, Dept Dev & Cognit Neurosci, Atlanta, GA 30329 USA.
[Shulman, Gordon L.; Petersen, Steven E.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Petersen, Steven E.] Washington Univ, Sch Med, Dept Radiol, St Louis, MO 63110 USA.
[Petersen, Steven E.] Washington Univ, Sch Med, Dept Anat & Neurobiol, St Louis, MO 63110 USA.
[Petersen, Steven E.] Washington Univ, Dept Psychol, St Louis, MO 63130 USA.
[Petersen, Steven E.] Washington Univ, Dept Biomed Engn, St Louis, MO USA.
RP Feczko, E (reprint author), Emory Univ, Dept Dev & Cognit Neurosci, Atlanta, GA 30329 USA.
EM efeczko@emory.edu
FU McDonnell Center for Systems Neuroscience; [T32 EY013360]; [K12
EY016336]
FX This work was supported by the McDonnell Center for Systems
Neuroscience. Eric Feczko's effort was supported by T32 EY013360. John
Pruett's effort was supported by K12 EY016336. We thank Sridhar Kandala
for coordinating recruitment, scheduling, and assessments of the
subjects. We would like to thank Gagan Wig and Maital Neta for
contributing face stimulus sets. We would like to thank Bradley
Schlaggar and Larry Snyder for providing advice on experimental design.
We would like to thank Richard Mulligan and Sridhar Kandala for helping
to proofread the manuscript. We would like to thank the Washington
University School of Medicine Volunteers for Health for providing
sources for recruitment.
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NR 75
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 2
AR 15
DI 10.1167/14.2.15
PG 21
WC Ophthalmology
SC Ophthalmology
GA AE5YE
UT WOS:000334064400015
ER
PT J
AU Muratori, F
Narzisi, A
AF Muratori, Filippo
Narzisi, Antonio
CA IDIA Grp
TI Exploratory study describing 6 month outcomes for young children with
autism who receive treatment as usual in Italy
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE autism; preschoolers; treatment as usual; early intervention
ID RANDOMIZED CONTROLLED-TRIAL; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM
DISORDERS; BEHAVIORAL TREATMENT; EARLY INTERVENTION; TODDLERS; AGE;
IDENTIFICATION; PRESCHOOLERS; ENGAGEMENT
AB Background: In the last few years, the results of different studies have confirmed, in different ways, the importance of early intervention for autism. This study aims to evaluate the role of early "as usual" interventions in the outcome of toddlers diagnosed with autism spectrum disorder (ASD).
Method: Seventy children with ASD aged between 24 and 48 months were recruited at different centers in Italy. They were evaluated by blind researchers at baseline and after 6 months of using Autism Diagnostic Observation Schedule-Generic (ADOS-G), Griffiths Mental Developmental Scales, and Vineland Adaptive Behavior scales. Parents filled out the MacArthur Inventory, Social Communication Questionnaire, and Child Behavior Check List. All children were referred to community providers for available interventions.
Results: At the endpoint, most of the children were still classified as having an ADOS-G classification of ASD. However, 21 (34.2%) passed from autism to autism spectrum, and 3 (4.2%) passed from autism spectrum to no spectrum. Treatment effects were obtained for cognitive functioning, language, adaptive behavior, and child behavior without differences between development-oriented and behavior-oriented interventions. Parent involvement was a mediator for the best clinical outcome. Baseline low impairments of communication, language comprehension, and gesture were predictors of positive outcome.
Conclusion: Treatment as usual, composed of individual therapy plus school-supported inclusion, may be an effective intervention in ASD. Better initial levels of communication in child and parent involvement during treatment have an important role for a positive outcome. Keywords: autism, preschoolers, treatment as usual, early intervention
C1 [Muratori, Filippo; Narzisi, Antonio] IRCCS Stella Maris Fdn, Dept Dev Neurosci, I-56018 Pisa, Italy.
[Muratori, Filippo] Univ Pisa, Pisa, Italy.
RP Muratori, F (reprint author), IRCCS Stella Maris Fdn, Dept Dev Neurosci, Via Giacinti 2, I-56018 Pisa, Italy.
EM filippo.muratori@fsm.unipi.it
FU Italian Ministry of Health
FX This study has been financially supported by the Italian Ministry of
Health (Strategic Program IDIA "Inquiry into Disruption of
Intersubjective Equipment in Autism Spectrum Disorder in Childhood").
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NR 51
TC 2
Z9 2
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 577
EP 586
DI 10.2147/NDT.S58308
PG 10
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AE4AN
UT WOS:000333919800001
PM 24748794
ER
PT J
AU Samadi, SA
McConkey, R
AF Samadi, Sayyed Ali
McConkey, Roy
TI The utility of the Gilliam autism rating scale for identifying Iranian
children with autism
SO DISABILITY AND REHABILITATION
LA English
DT Article
DE Autism; Gilliam autism rating scale; Iran; parents; screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ACCURACY
AB Purpose: Screening and assessment tools for developmental disabilities such as autism may need to be adjusted to particular cultures. The aim of this study was to evaluate the use in Iran of a rating scale for autism commonly used in western society. Method: A Persian translation of the GARS was completed by parents of 658 children: 442 who had been diagnosed with Autism; 112 intellectually disabled and 102 normally developing. The psychometric properties of the subscales were assessed and comparisons made across the three groups. Results: Factor analysis broadly confirmed the three subscales; each of which had high internal consistency. Individuals with autism were clearly distinguished from the other two groups and a cut-off score was identified that maximised the scale's sensitivity and specificity. Ten items were identified that best discriminated the three groups and these could form the basis for a shorter screening tool as they had good internal reliability and predictive validity. Conclusions: Iranian parents identified items relating to impaired social interaction and repetitive behaviours as more indicative of autism rather than those relating to communication and language. Attuning screening tools to cultural contexts is an important step towards a better understanding of autism internationally.
C1 [Samadi, Sayyed Ali; McConkey, Roy] Univ Ulster, Inst Nursing Res, Newtownabbey BT37 0QB, North Ireland.
RP McConkey, R (reprint author), Univ Ulster, Inst Nursing Res, Newtownabbey BT37 0QB, North Ireland.
EM r.mcconkey@ulster.ac.uk
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NR 17
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0963-8288
EI 1464-5165
J9 DISABIL REHABIL
JI Disabil. Rehabil.
PY 2014
VL 36
IS 6
BP 452
EP 456
DI 10.3109/09638288.2013.797514
PG 5
WC Rehabilitation
SC Rehabilitation
GA AD9KQ
UT WOS:000333584400002
PM 23738615
ER
PT J
AU Wainer, J
Dautenhahn, K
Robins, B
Amirabdollahian, F
AF Wainer, Joshua
Dautenhahn, Kerstin
Robins, Ben
Amirabdollahian, Farshid
TI A Pilot Study with a Novel Setup for Collaborative Play of the Humanoid
Robot KASPAR with Children with Autism
SO INTERNATIONAL JOURNAL OF SOCIAL ROBOTICS
LA English
DT Article
DE Autonomous humanoid robot; Collaborative play; Robot-assisted play;
Children with autism; Dyadic interaction
ID SOCIAL-INTERACTION SKILLS; PRESCHOOL-CHILDREN
AB This article describes a pilot study in which a novel experimental setup, involving an autonomous humanoid robot, KASPAR, participating in a collaborative, dyadic video game, was implemented and tested with children with autism, all of whom had impairments in playing socially and communicating with others. The children alternated between playing the collaborative video game with a neurotypical adult and playing the same game with the humanoid robot, being exposed to each condition twice. The equipment and experimental setup were designed to observe whether the children would engage in more collaborative behaviours while playing the video game and interacting with the adult than performing the same activities with the humanoid robot. The article describes the development of the experimental setup and its first evaluation in a small-scale exploratory pilot study. The purpose of the study was to gain experience with the operational limits of the robot as well as the dyadic video game, to determine what changes should be made to the systems, and to gain experience with analyzing the data from this study in order to conduct a more extensive evaluation in the future. Based on our observations of the childrens' experiences in playing the cooperative game, we determined that while the children enjoyed both playing the game and interacting with the robot, the game should be made simpler to play as well as more explicitly collaborative in its mechanics. Also, the robot should be more explicit in its speech as well as more structured in its interactions.
Results show that the children found the activity to be more entertaining, appeared more engaged in playing, and displayed better collaborative behaviours with their partners (For the purposes of this article, 'partner' refers to the human/robotic agent which interacts with the children with autism. We are not using the term's other meanings that refer to specific relationships or emotional involvement between two individuals.) in the second sessions of playing with human adults than during their first sessions. One way of explaining these findings is that the children's intermediary play session with the humanoid robot impacted their subsequent play session with the human adult. However, another longer and more thorough study would have to be conducted in order to better re-interpret these findings. Furthermore, although the children with autism were more interested in and entertained by the robotic partner, the children showed more examples of collaborative play and cooperation while playing with the human adult.
C1 [Wainer, Joshua; Dautenhahn, Kerstin; Robins, Ben; Amirabdollahian, Farshid] Univ Hertfordshire, Adapt Syst Res Grp, Sch Comp Sci, Hatfield AL10 9AB, Herts, England.
RP Wainer, J (reprint author), Univ Hertfordshire, Adapt Syst Res Grp, Sch Comp Sci, Hatfield AL10 9AB, Herts, England.
EM j.wainer@herts.ac.uk; k.dautenhahn@herts.ac.uk; b.robins@herts.ac.uk;
f.amirabdollahian2@herts.ac.uk
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NR 62
TC 2
Z9 2
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 JAN
PY 2014
VL 6
IS 1
BP 45
EP 65
DI 10.1007/s12369-013-0195-x
PG 21
WC Robotics
SC Robotics
GA AE1VZ
UT WOS:000333760700005
ER
PT J
AU [Anonymous]
AF [Anonymous]
TI Management of Autism in the Adult Intensive Care Unit
SO JOURNAL OF INTENSIVE CARE MEDICINE
LA English
DT Article
AB Autism comprises a growing segment of the population and can be a management challenge in the intensive care unit (ICU). We present the case of a 22-year-old male with severe autism and intellectual disorder who developed respiratory failure and required a prolonged ICU course. This patient exhibited severe distress, aggression, and self-injurious behavior. Management challenges included sedation, weaning from sedation, and liberation from mechanical ventilation. Success was achieved with a multispecialty team and by tailoring the environment and interactions to the patient's known preferences. The use of dexmedetomidine to wean high-dose benzodiazepines and opiates also permitted successful liberation from mechanical ventilation.
NR 0
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0885-0666
EI 1525-1489
J9 J INTENSIVE CARE MED
JI J. Intensive Care Med.
PD JAN
PY 2014
VL 29
IS 1
BP 47
EP 52
DI 10.1177/0885066612470236
PG 6
WC Critical Care Medicine
SC General & Internal Medicine
GA 282UB
UT WOS:000329198000007
ER
PT J
AU Sanvicente-Vieira, B
Kluwe-Schiavon, B
Wearick-Silva, LE
Piccoli, GL
Scherer, L
Tonelli, HA
Grassi-Oliveira, R
AF Sanvicente-Vieira, Breno
Kluwe-Schiavon, Bruno
Wearick-Silva, Luis Eduardo
Piccoli, Giovanna Lopes
Scherer, Lilian
Tonelli, Helio Anderson
Grassi-Oliveira, Rodrigo
TI Revised Reading the Mind in the Eyes Test (RMET) - Brazilian version
SO REVISTA BRASILEIRA DE PSIQUIATRIA
LA English
DT Article
DE Mentalizing; Theory of Mind; autism; schizophrenia; social cognition;
tests
ID QUALITY-OF-LIFE; SOCIAL COGNITION; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; BIPOLAR DISORDER; SCHIZOPHRENIA; AUTISM; MECHANISMS;
METAANALYSIS; RELIABILITY
AB Objective: To translate and adapt to Brazilian Portuguese the Revised Reading the Mind in the Eyes Test (RMET), in both paper-and-pencil and computerized versions. The RMET is a well-accepted instrument for assessment of Theory of Mind (TOM), an important component of social cognition.
Methods: Following a guideline for translation of material for clinical populations, this study had three main phases: 1) formal translation and semantic adaptation to Brazilian Portuguese; 2) an acceptability trial with health professionals as judges evaluating picture-word matching; and 3) a trial using the paper-and-pencil and computerized versions (experiments built in E-Prime 2.0.10 software) with healthy participants to test whether the instrument has similar outputs to those expected in versions in other languages.
Results: RMET was adequately adapted to Brazilian Portuguese. This version showed acceptability and outputs similar to versions of the instrument in other languages, including the original one. We kept the same number of images as the original English version.
Conclusions: Considering the scarcity of cognitive assessment instruments adequately adapted to Portuguese and the importance of social cognition in many psychiatric disorders, this work adds an important resource to Brazilian research and is administrable in both paper-and-pencil and computerized versions.
C1 [Sanvicente-Vieira, Breno; Kluwe-Schiavon, Bruno; Wearick-Silva, Luis Eduardo; Piccoli, Giovanna Lopes; Grassi-Oliveira, Rodrigo] Pontificia Univ Catalica Rio Grande Sul PUCRS, Grad Program Psychol, Ctr Studies & Res Traumat Stress, BR-90619900 Porto Alegre, RS, Brazil.
[Scherer, Lilian] Pontificia Univ Catolica Rio Grande do Sul, Grad Program Linguist, Neurolinguist & Psycholinguist Study Grp, Porto Alegre, RS, Brazil.
[Tonelli, Helio Anderson] Inst Psiquiatria Parana, Curitiba, PR, Brazil.
RP Grassi-Oliveira, R (reprint author), Pontificia Univ Catalica Rio Grande Sul PUCRS, Av Ipiranga,6681,Predio 11,Sala 936, BR-90619900 Porto Alegre, RS, Brazil.
EM rodrigo.grassi@pucrs.br
FU Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq);
Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
FX Authors would like to thank Conselho Nacional de Desenvolvimento
Cientifico e Tecnologico (CNPq) and Coordenacao de Aperfeicoamento de
Pessoal de Nivel Superior (CAPES) for their support.
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NR 40
TC 0
Z9 0
PU ASSOC BRASILEIRA PSIQUIATRIA
PI SAO PAULO
PA SUBSCRIPTION DEPARTMENT, RUA PEDRO DE TOLEDO, 967 - CASA 01, SAO PAULO,
SP 04039-032 A, BRAZIL
SN 1516-4446
J9 REV BRAS PSIQUIATR
JI Rev. Bras. Psiquiatr.
PD JAN-MAR
PY 2014
VL 36
IS 1
BP 60
EP 67
DI 10.1590/1516-4446-2013-1162
PG 8
WC Psychiatry
SC Psychiatry
GA AE0LM
UT WOS:000333657800011
PM 24604455
ER
PT J
AU Figueroa, AM
Juarez-Ramirez, R
Inzunza, S
Valenzuela, R
AF Mejia Figueroa, Andres
Juarez-Ramirez, Reyes
Inzunza, Sergio
Valenzuela, Rocio
TI Implementing adaptive interfaces: a user model for the development of
usability in interactive systems
SO COMPUTER SYSTEMS SCIENCE AND ENGINEERING
LA English
DT Article
DE User models; User-Centered Design; Human-Centered Design; User Interface
Design
ID AUTISM SPECTRUM DISORDERS; CHILDREN; DESIGN
AB The current user-centered software development approaches place special emphasis on the characteristics of the user and the tasks to be accomplished, because these greatly affect the way the user interacts with the system. To be sure, most researchers on the subject propose some user characteristics. However, there is still no model that integrates most, if not all, of these characteristics, such as psychological, cognitive, and physical. In this paper, we propose an initial user model integrating most of the user characteristics, while also taking into account some aspects of the characteristics of special needs users, in this case an autistic user, with the purpose of developing an adaptive software interface, improving the overall usability of any system. The model draws on different disciplines, such as medicine and sociology, and the experiences of their practitioners. In order to validate the model, we have tested the user interfaces for various real projects, taking into account the characteristics of the real users. We have also presented an example of how a user interface can be adapted for a specific set of user capabilities.
C1 [Mejia Figueroa, Andres; Juarez-Ramirez, Reyes; Inzunza, Sergio; Valenzuela, Rocio] Autonomous Univ Baja Calif, Sch Chem Sci & Engn, Tijuana, Baja California, Mexico.
RP Figueroa, AM (reprint author), Autonomous Univ Baja Calif, Sch Chem Sci & Engn, Tijuana, Baja California, Mexico.
EM mejia.andres@uabc.edu.mx; reyesjua@uabc.edu.mx; sinzunza@uabc.edu.mx;
rocio.v.magdaleno@uabc.edu.mx
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American Psychiatric Association, DIAGN STAT MAN MENT
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NR 42
TC 0
Z9 0
PU C R L PUBLISHING LTD
PI LEICESTER
PA 5 WEIR RD, KIBWORTH BEAUCHAMP, LEICESTER LE8 0LQ, ENGLAND
SN 0267-6192
J9 COMPUT SYST SCI ENG
JI Comput. Syst. Sci. Eng.
PD JAN
PY 2014
VL 29
IS 1
SI SI
BP 95
EP 104
PG 10
WC Computer Science, Hardware & Architecture; Computer Science, Theory &
Methods
SC Computer Science
GA AD4PL
UT WOS:000333232900009
ER
PT J
AU Jacob, J
Ribes, V
Moore, S
Constable, SC
Sasai, N
Gerety, SS
Martin, DJ
Sergeant, CP
Wilkinson, DG
Briscoe, J
AF Jacob, John
Ribes, Vanessa
Moore, Steven
Constable, Sean C.
Sasai, Noriaki
Gerety, Sebastian S.
Martin, Darren J.
Sergeant, Chris P.
Wilkinson, David G.
Briscoe, James
TI Valproic acid silencing of ascl1b/Ascl1 results in the failure of
serotonergic differentiation in a zebrafish model of fetal valproate
syndrome
SO DISEASE MODELS & MECHANISMS
LA English
DT Article
DE Serotonin; Fetal valproate syndrome; Zebrafish; Notch; Proneural gene;
Hdac1
ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS; HISTONE
DEACETYLASE; TRANSCRIPTIONAL REPRESSION; NERVOUS-SYSTEM; SOMITE
DEVELOPMENT; PRENATAL EXPOSURE; CYCLOPS MUTANT; MOUSE MODEL; IN-VIVO
AB Fetal valproate syndrome (FVS) is caused by in utero exposure to the drug sodium valproate. Valproate is used worldwide for the treatment of epilepsy, as a mood stabiliser and for its pain-relieving properties. In addition to birth defects, FVS is associated with an increased risk of autism spectrum disorder (ASD), which is characterised by abnormal behaviours. Valproate perturbs multiple biochemical pathways and alters gene expression through its inhibition of histone deacetylases. Which, if any, of these mechanisms is relevant to the genesis of its behavioural side effects is unclear. Neuroanatomical changes associated with FVS have been reported and, among these, altered serotonergic neuronal differentiation is a consistent finding. Altered serotonin homeostasis is also associated with autism. Here we have used a chemical-genetics approach to investigate the underlying molecular defect in a zebrafish FVS model. Valproate causes the selective failure of zebrafish central serotonin expression. It does so by downregulating the proneural gene ascl1b, an ortholog of mammalian Ascl1, which is a known determinant of serotonergic identity in the mammalian brainstem. ascl1b is sufficient to rescue serotonin expression in valproate-treated embryos. Chemical and genetic blockade of the histone deacetylase Hdac1 downregulates ascl1b, consistent with the Hdac1-mediated silencing of ascl1b expression by valproate. Moreover, tonic Notch signalling is crucial for ascl1b repression by valproate. Concomitant blockade of Notch signalling restores ascl1b expression and serotonin expression in both valproate-exposed and hdac1 mutant embryos. Together, these data provide a molecular explanation for serotonergic defects in FVS and highlight an epigenetic mechanism for genome-environment interaction in disease.
C1 [Jacob, John; Ribes, Vanessa; Moore, Steven; Sasai, Noriaki; Briscoe, James] Natl Inst Med Res, MRC, Div Dev Biol, London NW7 1AA, England.
[Jacob, John] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England.
[Constable, Sean C.; Gerety, Sebastian S.; Wilkinson, David G.] Natl Inst Med Res, MRC, Div Dev Neurobiol, London NW7 1AA, England.
[Martin, Darren J.; Sergeant, Chris P.] Lincolns Inn Fields Labs, Canc Res UK, London Res Inst, London WC2A 3LY, England.
RP Jacob, J (reprint author), Natl Inst Med Res, MRC, Div Dev Biol, Mill Hill, London NW7 1AA, England.
EM jjacob@nimr.mrc.ac.uk; jbrisco@nimr.mrc.ac.uk
FU Autism Speaks Grant [1299]; MRC [U117560541]
FX This work was funded by an Autism Speaks Grant (#1299) to Alex Gould and
J.B. and by the MRC (U117560541).
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NR 103
TC 3
Z9 3
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 JAN
PY 2014
VL 7
IS 1
BP 107
EP 117
DI 10.1242/dmm.013219
PG 11
WC Cell Biology; Pathology
SC Cell Biology; Pathology
GA AD7QB
UT WOS:000333457700013
PM 24135485
ER
PT J
AU Egger, JIM
Verhoeven, WMA
Verbeeck, W
de Leeuw, N
AF Egger, Jos I. M.
Verhoeven, Willem M. A.
Verbeeck, Wim
de Leeuw, Nicole
TI Neuropsychological phenotype of a patient with a de novo 970 kb
interstitial deletion in the distal 16p11.2 region
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE SNP array; microdeletion; distal 16p11.2; neuropsychological phenotype;
social cognition
ID MICRODELETION SYNDROME; DEVELOPMENTAL DELAY; CHROMOSOME 16P11.2;
OBESITY; MICROARRAYS; IMBALANCE
AB The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to autism spectrum susceptibility and is functionally different from the more distal 16p12.2p11.2 region, which includes the so-called atypical 16p11.2 BP2-BP3 deletion (approximately 220 kb) presenting with developmental delay, behavioral problems and mild facial dysmorphisms. Here, an adult male with a long history of maladaptive behaviors is described who was referred for diagnostic assessment of his amotivational features. Extensive neuropsychological examination demonstrated rigid thinking, anxious beliefs, and ideas of reference in the presence of normal intelligence. Microarray analysis demonstrated a de novo 970 kb 16p11.2 BP1-BP4 microdeletion that can be regarded as explanatory for his behavioral profile. It is concluded that microdeletion syndromes are not exclusively related to intellectual disabilities and genetic testing is of putative relevance for the understanding of neuropsychiatric and neuropsychological phenomena.
C1 [Egger, Jos I. M.; Verhoeven, Willem M. A.] Ctr Excellence Neuropsychiat, Vincent van Gogh Inst Psychiat, NL-5803 AC Venray, Netherlands.
[Egger, Jos I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Egger, Jos I. M.] Radboud Univ Nijmegen, Behav Sci Inst, NL-6525 ED Nijmegen, Netherlands.
[Verhoeven, Willem M. A.] Erasmus Univ, Med Ctr, Dept Psychiat, Rotterdam, Netherlands.
[Verbeeck, Wim] Ctr Autism, Vincent van Gogh Inst Psychiat, Venray, Netherlands.
[Verbeeck, Wim] ADHD, Venray, Netherlands.
[de Leeuw, Nicole] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
RP Egger, JIM (reprint author), Ctr Excellence Neuropsychiat, Vincent van Gogh Inst Psychiat, Stationsweg 46, NL-5803 AC Venray, Netherlands.
EM j.egger@psych.ru.nl
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NR 19
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 513
EP 517
DI 10.2147/NDT.S58684
PG 5
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AD6SB
UT WOS:000333390100001
PM 24707176
ER
PT J
AU Musumeci, G
Loreto, C
Trovato, FM
Giunta, S
Imbesi, R
Castrogiovanni, P
AF Musumeci, Giuseppe
Loreto, Carla
Trovato, Francesca Maria
Giunta, Salvatore
Imbesi, Rosa
Castrogiovanni, Paola
TI Serotonin (5HT) expression in rat pups treated with high-tryptophan diet
during fetal and early postnatal development
SO ACTA HISTOCHEMICA
LA English
DT Article
DE Tryptophan; Serotonin; Growth hormone; Survival; Histology; Diet; Rat
ID GROWTH-HORMONE; PERINATAL TREATMENT; BRAIN-DEVELOPMENT;
5-HYDROXYTRYPTOPHAN; CONSEQUENCES; RELEASE; BINDING; AUTISM; TISSUE;
CELLS
AB Serotonin (5HT) is a neurotransmitter synthesized in serotonergic neurons of the central nervous system and in the enterochromaffin cells of the gastrointestinal tract. 5HT regulates growth and maturation of some cerebral regions in the developing brain as well as the secretion of pituitary growth hormone. This hormone is necessary for development and growth through the stimulation of insulin-like growth factor synthesis. The precursor of 5HT, tryptophan (Trp), is an essential amino acid, since the human organism is unable to synthesize it and it is assumed only through diet. The aim of our study was to analyze how a high-tryptophan diet in pregnant rats affects growth and survival of pups until weaning. We monitored the number and weight of pups until weaning. Then, we detected serotonin and growth hormone levels in whole blood by ELISA of surviving pups at the end of the lactation period. We also analyzed by means of immunohistochemistry and Western blot the expression of serotonin in rat gastric tissue and the morphological structure of skeletal muscle tissue of both control and experimental pups. Hyperserotonemia and very low levels of growth hormone were detected in experimental pups compared to controls. Immunohistochemistry demonstrated a strong serotonin expression in stomach samples confirming that a high intake of tryptophan increases the production of serotonin in enterochromaffin cells, thereby resulting in hyperserotonemia in pups. These data were also strengthened by Western blot analysis. Histological alterations of skeletal muscle fibers in experimental pups were found and showed that in experimental samples the muscle tissue demonstrated deleterious alterations, being less developed and defined: Our data suggest that a high-tryptophan diet in pregnant rats induces hyperserotonemia in the fetus. Hyperserotonemia results in an excess of serotonin in the brain where it has a negative influence on development of serotonergic neurons and consequently on growth hormone production. (C) 2013 Elsevier GmbH. All rights reserved.
C1 [Musumeci, Giuseppe; Loreto, Carla; Giunta, Salvatore; Imbesi, Rosa; Castrogiovanni, Paola] Univ Catania, Dept Biomed Sci, Human Anat & Histol Div, I-95124 Catania, Italy.
[Trovato, Francesca Maria] Univ Catania, Div Internal Med, Dept Med & Pediat Sci, I-95124 Catania, Italy.
RP Musumeci, G (reprint author), Univ Catania, Dept Biomed Sci, Human Anat & Histol Div, I-95124 Catania, Italy.
EM g.musumeci@unict.it
FU Department of Bio-Medical Sciences, University of Catania
FX The study was funded by the Department of Bio-Medical Sciences,
University of Catania. The authors would like to thank Prof. Iain
Halliday for commenting and making corrections to the paper.
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NR 39
TC 1
Z9 1
PU ELSEVIER GMBH, URBAN & FISCHER VERLAG
PI JENA
PA OFFICE JENA, P O BOX 100537, 07705 JENA, GERMANY
SN 0065-1281
EI 1618-0372
J9 ACTA HISTOCHEM
JI Acta Histochem.
PY 2014
VL 116
IS 2
BP 335
EP 343
DI 10.1016/j.acthis.2013.08.011
PG 9
WC Cell Biology
SC Cell Biology
GA AD0EO
UT WOS:000332907500006
PM 24071520
ER
PT J
AU Escobedo, L
Tentori, M
Quintana, E
Favela, J
Garcia-Rosas, D
AF Escobedo, Lizbeth
Tentori, Monica
Quintana, Eduardo
Favela, Jesus
Garcia-Rosas, Daniel
TI Using Augmented Reality to Help Children with Autism Stay Focused
SO IEEE PERVASIVE COMPUTING
LA English
DT Article
DE Autism; Medical treatment; Object recognition; Glass; Feature
extraction; Augmented reality; Servers; pervasive computing; augmented
reality; attention management; autism; pervasive interaction
C1 [Escobedo, Lizbeth] Univ Autonoma Baja California, Mexicali 21100, Baja California, Mexico.
RP Escobedo, L (reprint author), Univ Autonoma Baja California, Mexicali 21100, Baja California, Mexico.
EM lizbeth.escobedo@gmail.com; mtentori@cicese.mx; equintan@cicese.edu.mx;
favela@cicese.mx; jdgarcia@cicese.edu.mx
RI Favela, Jesus/J-8027-2013; Quintana, Eduardo/F-4578-2014
OI Favela, Jesus/0000-0003-2967-9654; Quintana, Eduardo/0000-0001-5718-4937
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NR 15
TC 4
Z9 4
PU IEEE COMPUTER SOC
PI LOS ALAMITOS
PA 10662 LOS VAQUEROS CIRCLE, PO BOX 3014, LOS ALAMITOS, CA 90720-1314 USA
SN 1536-1268
EI 1558-2590
J9 IEEE PERVAS COMPUT
JI IEEE Pervasive Comput.
PD JAN-MAR
PY 2014
VL 13
IS 1
BP 38
EP 46
DI 10.1109/MPRV.2014.19
PG 9
WC Computer Science, Information Systems; Engineering, Electrical &
Electronic; Telecommunications
SC Computer Science; Engineering; Telecommunications
GA AC7UO
UT WOS:000332737800008
ER
PT J
AU Gvozdjakova, A
Kucharska, J
Ostatnikova, D
Babinska, K
Nakladal, D
Crane, FL
AF Gvozdjakova, Anna
Kucharska, Jarmila
Ostatnikova, Daniela
Babinska, Katarina
Nakladal, Dalibor
Crane, Fred L.
TI Ubiquinol Improves Symptoms in Children with Autism
SO OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
LA English
DT Article
ID OXIDATIVE STRESS; MITOCHONDRIAL DYSFUNCTION; ANTIOXIDANT ENZYMES;
SPECTRUM DISORDERS; LIPID-PEROXIDATION; COENZYME Q(10); PLASMA;
BIOMARKERS
AB Background. Autism is a spectrum of neurodevelopmental disorders with manifestation within 3 years after birth. Manifestations of autism include behavior problems (hyperactivity, toys destruction, self-harm, and agression) and sleep and eating disorders. Etiology of autism is poorly understood. Oxidative stress and antioxidants can participate in pathobiochemical mechanisms of autism. Methods. Twenty-four children, aged 3-6 years, with autism according to the DSM IV criteria and using CARS were included in the study. Concentrations of CoQ(10-TOTAL), gamma- and alpha-tocopherol, beta-carotene, and lipid peroxidation were determined in plasma before and after three months of supportive therapy with ubiquinol at a daily dose 2 x 50 mg. Data on behavior of the children were collected from parents at the same time. Results. Ubiquinol supportive therapy improved symptoms in children with autism, as communication with parents (in 12%), verbal communication (in 21%), playing games of children (in 42%), sleeping (in 34%), and food rejection (in 17%), with CoQ(10-TOTAL) plasma level above 2.5 mu mol/L. Conclusions. Beneficial effect of ubiquinol in children with autism has been demonstrated for the first time. We assume that plasma concentration of CoQ(10-TOTAL) and lipid peroxidation could be used as relevant biomarkers of ubiquinol supportive therapy.
C1 [Gvozdjakova, Anna; Kucharska, Jarmila; Nakladal, Dalibor] Comenius Univ, Fac Med, Dept Med 3, Pharmacobiochem Lab, Bratislava 81108, Slovakia.
[Ostatnikova, Daniela; Babinska, Katarina] Comenius Univ, Fac Med, Inst Physiol, Bratislava 81108, Slovakia.
[Crane, Fred L.] Purdue Univ, Dept Biol Sci, W Lafayette, IN 47901 USA.
RP Gvozdjakova, A (reprint author), Comenius Univ, Fac Med, Dept Med 3, Pharmacobiochem Lab, Sasinkova 4, Bratislava 81108, Slovakia.
EM anna.gvozdjakova@fmed.uniba.sk
FU Ministry of Education of Slovakia, VEGA [1/0328/10, 1/0614/12]; APVV
[0254-11]; Tishcon Corp., USA for Li-QH product
FX This work is supported by the Grant of Ministry of Education of
Slovakia, VEGA 1/0328/10, 1/0614/12; APVV 0254-11; Tishcon Corp., USA
for Li-QH product; A. Stetkova for technical assistance; Autistic Center
ANDREAS, n.p., Bratislava, Slovakia for cooperation. Work was done in
Comenius University in Bratislava, Medical Faculty, Pharmacobiochemical
Laboratory of 3rd Medical Department, Slovakia, in the years 2011-2012.
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Zoroglu SS, 2004, EUR ARCH PSY CLIN N, V254, P143, DOI 10.1007/s00406-004-0456-7
NR 27
TC 2
Z9 2
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 1942-0900
EI 1942-0994
J9 OXID MED CELL LONGEV
JI Oxidative Med. Cell. Longev.
PY 2014
AR 798957
DI 10.1155/2014/798957
PG 6
WC Cell Biology
SC Cell Biology
GA AC5EK
UT WOS:000332543600001
ER
PT J
AU Lemke, JR
Hendrickx, R
Geider, K
Laube, B
Schwake, M
Harvey, RJ
James, VM
Pepler, A
Steiner, I
Hortnagel, K
Neidhardt, J
Ruf, S
Wolff, M
Bartholdi, D
Caraballo, R
Platzer, K
Suls, A
De Jonghe, P
Biskup, S
Weckhuysen, S
AF Lemke, Johannes R.
Hendrickx, Rik
Geider, Kirsten
Laube, Bodo
Schwake, Michael
Harvey, Robert J.
James, Victoria M.
Pepler, Alex
Steiner, Isabelle
Hoertnagel, Konstanze
Neidhardt, John
Ruf, Susanne
Wolff, Markus
Bartholdi, Deborah
Caraballo, Roberto
Platzer, Konrad
Suls, Arvid
De Jonghe, Peter
Biskup, Saskia
Weckhuysen, Sarah
TI GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal
Epilepsy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; INFANTILE SPASMS; NMDA
RECEPTORS; GENE; SUBUNIT; ENCEPHALOPATHIES; PHENOTYPES; DIVERSITY;
APHASIA
AB Objective: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.
Methods: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort.
Results: We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011-5_2011-4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg2+ block and higher Ca2+ permeability, leading to a dramatically increased Ca2+ influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype.
Interpretation: We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis.
C1 [Lemke, Johannes R.] Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, Switzerland.
[Lemke, Johannes R.; Suls, Arvid; De Jonghe, Peter; Weckhuysen, Sarah] RES Consortium, Partners EuroEPIN, Andover, Hants, England.
[Hendrickx, Rik; Suls, Arvid; De Jonghe, Peter; Weckhuysen, Sarah] Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium.
[Hendrickx, Rik; De Jonghe, Peter; Weckhuysen, Sarah] Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium.
[Geider, Kirsten; Laube, Bodo] Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Germany.
[Schwake, Michael] Univ Bielefeld, Fac Chem, Bielefeld, Germany.
[Harvey, Robert J.; James, Victoria M.; Pepler, Alex] UCL, Sch Pharm, Dept Pharmacol, London, England.
[Pepler, Alex; Steiner, Isabelle; Hoertnagel, Konstanze; Biskup, Saskia] CeGaT GmbH, Tubingen, Germany.
[Neidhardt, John] Univ Zurich, Inst Med Mol Genet, CH-8006 Zurich, Switzerland.
[Ruf, Susanne; Wolff, Markus] Univ Tubingen, Dept Neuropediat, Tubingen, Germany.
[Bartholdi, Deborah; Biskup, Saskia] Klin Stuttgart, Inst Clin Genet, Stuttgart, Germany.
[Caraballo, Roberto] Juan P Garrahan Pediat Hosp, Dept Neurol, Buenos Aires, DF, Argentina.
[Platzer, Konrad] Univ Lubeck, Dept Human Genet, Lubeck, Germany.
[De Jonghe, Peter] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium.
[Biskup, Saskia] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany.
[Biskup, Saskia] Univ Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany.
RP Lemke, JR (reprint author), Univ Bern, Inselspital, Univ Childrens Hosp, CH-3010 Bern, Switzerland.
EM johannes.lemke@insel.ch
FU EuroEPINOMICS-RES network [32EP30_136042 / 1]; EuroEPINOMICS-RES network
(FWO/ESF-ECRP) [G.A.136.11.N]; Medical Research Council [MR/J004049/1];
Federal Ministry for Education and Research [IonNeurONet: 01GM1105A];
German Research Foundation [SFB877]; Fonds Wetenschappelijk Onderzoek
FX J.R.L. (32EP30_136042 / 1) and P. D. J. (G.A.136.11.N, FWO/ESF-ECRP)
received financial support within the EuroEPINOMICS-RES network
(www.euroepinomics.org) within the Eurocores framework of the European
Science Foundation. R. J. H. received funding from the Medical Research
Council (MR/J004049/1). S. B. received further support from the Federal
Ministry for Education and Research (IonNeurONet: 01GM1105A). M. S.
received financial support from the German Research Foundation (SFB877).
A. S. received funding for a postdoctoral fellowship by the Fonds
Wetenschappelijk Onderzoek. We thank all patients and family members for
their participation in this study.
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NR 30
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0364-5134
EI 1531-8249
J9 ANN NEUROL
JI Ann. Neurol.
PD JAN
PY 2014
VL 75
IS 1
BP 147
EP 154
DI 10.1002/ana.24073
PG 8
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AA3WQ
UT WOS:000331026300016
PM 24272827
ER
PT J
AU Morgan, G
Meristo, M
Mann, W
Hjelmquist, E
Surian, L
Siegal, M
AF Morgan, Gary
Meristo, Marek
Mann, Wolfgang
Hjelmquist, Erland
Surian, Luca
Siegal, Michael
TI Mental state language and quality of conversational experience in deaf
and hearing children
SO COGNITIVE DEVELOPMENT
LA English
DT Article
DE Deaf; Social cognition; Conversation
ID SIGN-LANGUAGE; MIND; AUTISM; MOTHER; TALK; INPUT
AB Deaf children of hearing parents show a protracted delay in performance on 'theory of mind' measures that suggests they encounter difficulties in acquiring knowledge of false beliefs and other mental states. Considerable evidence indicates that children's early experience of adults' mental state talk predicts their later social-cognitive development. However, no previous study has analyzed very young deaf children's access to conversation about mental states. We compared the conversational turn-taking and input of hearing parents to deaf and hearing children aged 17-35 months in the UK and Sweden. Mothers of hearing children used far more cognitive mental state language with their infants and their conversations were characterized by more communicatively effective turn-taking than mothers of deaf children. Across two different cultures, these findings indicate that conversations differ significantly in these aspects of interaction thought to be crucial for later social-cognitive development. (c) 2013 Elsevier Inc. All rights reserved.
C1 [Morgan, Gary] City Univ London, London EC1V 0HB, England.
[Morgan, Gary; Mann, Wolfgang] DCAL Res Ctr, London, England.
[Meristo, Marek; Hjelmquist, Erland] Univ Gothenburg, Gothenburg, Sweden.
[Meristo, Marek; Surian, Luca] Univ Trento, Trento, Italy.
[Siegal, Michael] Univ Sheffield, Sheffield S10 2TN, S Yorkshire, England.
RP Morgan, G (reprint author), City Univ London, Dept Language & Commun Sci, Northampton Sq, London EC1V 0HB, England.
EM g.morgan@city.ac.uk; marek.meristo@gu.se
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NR 34
TC 3
Z9 3
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0885-2014
EI 1879-226X
J9 COGNITIVE DEV
JI Cogn. Dev.
PD JAN-MAR
PY 2014
VL 29
BP 41
EP 49
DI 10.1016/j.cogdev.2013.10.002
PG 9
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AB8OW
UT WOS:000332050900004
ER
PT J
AU Takarae, Y
Luna, B
Minshew, NJ
Sweeney, JA
AF Takarae, Yukari
Luna, Beatriz
Minshew, Nancy J.
Sweeney, John A.
TI Visual Motion Processing and Visual Sensorimotor Control in Autism
SO JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
LA English
DT Article
ID CONCURRENT TMS-FMRI; SPECTRUM DISORDERS; EYE-MOVEMENTS; AREA MT;
BIOLOGICAL MOTION; SMOOTH-PURSUIT; PERCEPTION; CORTEX; INFORMATION;
CHILDREN
C1 [Takarae, Yukari; Sweeney, John A.] Univ Texas Southwestern, Dept Psychiat, Ctr Autism & Dev Disabil, Dallas, TX 75390 USA.
[Luna, Beatriz; Minshew, Nancy J.] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA.
[Luna, Beatriz] Univ Pittsburgh, Dept Psychol, Pittsburgh, PA 15260 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA.
[Sweeney, John A.] Univ Texas Southwestern, Dept Pediat, Dallas, TX 75390 USA.
RP Takarae, Y (reprint author), Univ Texas Southwestern, Dept Psychiat, Ctr Autism & Dev Disabil, 5323 Harry Hines Blvd MC9086, Dallas, TX 75390 USA.
EM yukari.takarae@southwestern.edu
FU NICHD Collaborative Program of Excellence in Autism [HD35469]; NICHD
Autism Center of Excellence [HD055751]; National Alliance for Autism
Research; NIH Mentored Research Scientist Development Award [MH087720];
Janssen
FX This research was supported by an NICHD Collaborative Program of
Excellence in Autism (HD35469) and an NICHD Autism Center of Excellence
(HD055751), the National Alliance for Autism Research, and an NIH
Mentored Research Scientist Development Award (MH087720). Dr. Sweeney
serves as a member of advisory boards to Takeda, Lilly, BMS, Roche and
Pfizer, and has received support from Janssen that is unrelated to the
work presented in this manuscript. The authors report no actual or
potential conflict of interest in relation to this manuscript.
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NR 65
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1355-6177
EI 1469-7661
J9 J INT NEUROPSYCH SOC
JI J. Int. Neuropsychol. Soc.
PD JAN
PY 2014
VL 20
IS 1
BP 113
EP 122
PG 10
WC Clinical Neurology; Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA AC2VC
UT WOS:000332373400013
PM 24365486
ER
PT J
AU Moss, BG
Chugani, DC
AF Moss, Brian G.
Chugani, Diane C.
TI Increased Risk of Very Low Birth Weight, Rapid Postnatal Growth, and
Autism in Underweight and Obese Mothers
SO AMERICAN JOURNAL OF HEALTH PROMOTION
LA English
DT Article
DE Autism; Obesity; Postnatal Growth; Prevention Research
ID HIGH-FAT DIET; SPECTRUM DISORDERS; PREGNANCY OUTCOMES; MATERNAL OBESITY;
FETAL-BRAIN; CELL-GROWTH; PREVALENCE; INFLAMMATION; TRENDS; US
AB Purpose. To determine whether prepregnancy weight was associated with children's birth weight, early physical growth, and autism diagnosis.
Design. Early Childhood Longitudinal Study-Birth Cohort data.
Setting. United States.
Subjects. Representative sample of U. S. children followed from birth through kindergarten (n = 4800). Also, a subpopulation of the very low birth weight children was examined (n = 500).
Measures. Maternal variables included age and prepregnancy body mass index. Changes in children's height, weight, and head circumference between 9 months and 2 years were used as growth metrics. Children's sex, age, birth weight, and reported autism were also considered.
Analysis. Logistic and multinomial logistic models assessed the impact of prepregnancy weight on birth weight and children's subsequent rate of physical growth and autism.
Results. Children born to underweight or obese mothers had increased odds of very low birth weight. Very low birth weight was related to rapid height and weight growth and more than twice the likelihood to subsequently be diagnosed with autism. For the subgroup of very low birth weight children, rapid head growth was related to a fivefold increase in the odds of autism. After accounting for the impact birth weight and growth rates, we found prepregnancy weight indirectly impacted autism risk.
Conclusion. Being underweight or obese during prepregnancy indirectly increased risk for autism from increased odds of low birth weight and accelerated postnatal growth.
C1 [Moss, Brian G.; Chugani, Diane C.] Wayne State Univ, Detroit, MI 48202 USA.
[Chugani, Diane C.] Childrens Hosp Michigan, Detroit, MI 48201 USA.
RP Moss, BG (reprint author), Wayne State Univ, 2250 Fac Adm Bldg, Detroit, MI 48202 USA.
EM brian.moss@wayne.edu
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NR 41
TC 2
Z9 2
PU AMER JOURNAL HEALTH PROMOTION INC
PI TROY
PA PO BOX 1254, TROY, MI 48099-1254 USA
SN 0890-1171
EI 2168-6602
J9 AM J HEALTH PROMOT
JI Am. J. Health Promot.
PD JAN-FEB
PY 2014
VL 28
IS 3
BP 181
EP 188
DI 10.4278/ajhp.120705-QUAN-325
PG 8
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AB6JS
UT WOS:000331894900015
PM 23875984
ER
PT J
AU Bate, S
Cook, SJ
Duchaine, B
Tree, JJ
Burns, EJ
Hodgson, TL
AF Bate, Sarah
Cook, Sarah J.
Duchaine, Bradley
Tree, Jeremy J.
Burns, Edwin J.
Hodgson, Timothy L.
TI Intranasal inhalation of oxytocin improves face processing in
developmental prosopagnosia
SO CORTEX
LA English
DT Article
DE Oxytocin; Developmental prosopagnosia; Face processing; Face recognition
ID HIGH-FUNCTIONING AUTISM; HUMAN NEURAL SYSTEM; CONGENITAL PROSOPAGNOSIA;
HEREDITARY PROSOPAGNOSIA; MEMORY TEST; RECOGNITION ABILITY; UNFAMILIAR
FACES; TEMPORAL CORTEX; PERCEPTION; AMYGDALA
AB Developmental prosopagnosia (DP) is characterised by a severe lifelong impairment in face recognition. In recent years it has become clear that DP affects a substantial number of people, yet little work has attempted to improve face processing in these individuals. Intriguingly, recent evidence suggests that intranasal inhalation of the hormone oxytocin can improve face processing in unimpaired participants, and we investigated whether similar findings might be noted in DP. Ten adults with DP and 10 matched controls were tested using a randomized placebo-controlled double-blind within-subject experimental design (AB-BA). Each participant took part in two testing sessions separated by a 14-25 day interval. In each session, participants inhaled 24 IU of oxytocin or placebo spray, followed by a 45 min resting period to allow central oxytocin levels to plateau. Participants then completed two face processing tests: one assessing memory for a set of newly encoded faces, and one measuring the ability to match simultaneously presented faces according to identity. Participants completed the Multidimensional Mood Questionnaire (MMQ) at three points in each testing session to assess the possible mood-altering effects of oxytocin and to control for attention and wakefulness. Statistical comparisons revealed an improvement for DP but not control participants on both tests in the oxytocin condition, and analysis of scores on the MMQ indicated that the effect cannot be attributed to changes in mood, attention or wakefulness. This investigation provides the first evidence that oxytocin can improve face processing in DP, and the potential neural underpinnings of the findings are discussed alongside their implications for the treatment of face processing disorders. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Bate, Sarah] Bournemouth Univ, Psychol Res Ctr, Poole BH12 5BB, Dorset, England.
[Cook, Sarah J.] Dorset Healthcare Univ Fdn Trust, Bournemouth, Dorset, England.
[Duchaine, Bradley] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
[Tree, Jeremy J.; Burns, Edwin J.] Swansea Univ, Dept Psychol, Swansea, W Glam, Wales.
[Hodgson, Timothy L.] Lincoln Univ, Sch Psychol, Lincoln, England.
RP Bate, S (reprint author), Bournemouth Univ, Psychol Res Ctr, Poole House, Poole BH12 5BB, Dorset, England.
EM sbate@bournemouth.ac.uk
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NR 61
TC 3
Z9 3
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
EI 1973-8102
J9 CORTEX
JI Cortex
PD JAN
PY 2014
VL 50
BP 55
EP 63
DI 10.1016/j.cortex.2013.08.006
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB3AL
UT WOS:000331663600006
PM 24074457
ER
PT J
AU Peters, U
AF Peters, Uwe
TI Self-Knowledge and Consciousness of Attitudes
SO JOURNAL OF CONSCIOUSNESS STUDIES
LA English
DT Article
ID TRANSITIVE INFERENCE; BELIEFS; AUTISM; MIND
AB Suppose we know our own attitudes, e.g. judgments and decisions, only by unconsciously interpreting ourselves. Would this undermine the assumption that there are conscious attitudes? Carruthers (2011) has argued that if the mentioned view of self-knowledge is combined with either of the two most common approaches to consciousness, i.e. the higher-order state account (Rosenthal, 1997; 2005; Lycan, 1996; Carruthers, 2000) or the global workspace theory (Baars, 1988; Dehaene and Naccache, 2001), then the conjunction of these theories implies that there are no conscious attitudes. I shall show that Carruthers' argument against the existence of conscious attitudes doesn't succeed, and mention studies on autism and logical reasoning under cognitive load that suggest that there are conscious attitudes.
EM uwe.peters@kcl.ac.uk
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NR 52
TC 0
Z9 0
PU IMPRINT ACADEMIC
PI THORVERTON
PA PO BOX 1, THORVERTON EX5 5YX, ENGLAND
SN 1355-8250
J9 J CONSCIOUSNESS STUD
JI J. Conscious. Stud.
PD JAN-FEB
PY 2014
VL 21
IS 1-2
BP 139
EP 155
PG 17
WC Philosophy; Social Sciences, Interdisciplinary
SC Philosophy; Social Sciences - Other Topics
GA AB1ZC
UT WOS:000331591800008
ER
PT J
AU Arnold, RW
Armitage, MD
AF Arnold, Robert W.
Armitage, M. Diane
TI Performance of Four New Photoscreeners on Pediatric Patients With High
Risk Amblyopia
SO JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
LA English
DT Article
ID MTI PHOTOSCREENERS; ANISOMETROPIA; CALIBRATION; CHILDREN
AB Purpose: A new study by the American Academy of Pediatrics touts the benefits of photoscreening, especially in preverbal children who cannot yet perform monocular acuity screening. Emerging devices have not been compared in young and developmentally challenged children.
Methods: Consecutive patients in a pediatric eye practice had a comprehensive eye examination and four photoscreens: PlusoptiX (PlusoptiX, Nuremburg, Germany), SPOT (PediaVision, Lake Mary, FL), iScreen (iScreen, Memphis, TN), and the GoCheckKids application (Gobiquity, Aliso Viejo, CA) for the iPhone 4s (Apple, Cupertino, CA) with Delta Center Crescent interpretation. They were validated according to the 2003 American Association for Pediatric Ophthalmology and Strabismus uniform guidelines.
Results: One hundred eight children aged 1 to 12 years participated, with 56% having amblyopia risk factors and 10% having autism. For the four devices, sensitivity, specificity, and inconclusive results were as follows: PlusoptiX (83%, 86%, 23%), SPOT (80%, 85%, 4%), iScreen (75%, 88%, 13%) and iScreen (with Delta Center Crescent) (92%, 88%, 0%), and GoCheckKids (with Delta Center Crescent) (81%, 91%, 3%).
Conclusions: Even in high risk and young children, current instrument- based screeners can reliably screen for refractive and strabismic risk factors that lead to amblyopia. Some devices can reduce the proportion of inclusive results in challenging cases.
C1 Alaska Blind Child Discovery, Pediat Ophthalmol & Strabismus, Anchorage, AK USA.
[Arnold, Robert W.] Ophthalm Associates, Anchorage, AK 99501 USA.
RP Arnold, RW (reprint author), Ophthalm Associates, 542 West Second Ave, Anchorage, AK 99501 USA.
EM eyedoc@alaska.net
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Committee on Practice and Ambulatory Medicine Section on Ophthalmology; American Association of Certified Orthoptists; American Association for Pediatric Ophthalmology and Strabismus; American Academy of Ophthalmology, 2003, OPHTHALMOLOGY, V110, P860
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Wong AMF, 2012, CAN J OPHTHALMOL, V47, P399, DOI 10.1016/j.jcjo.2012.05.002
NR 17
TC 2
Z9 2
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 0191-3913
EI 1938-2405
J9 J PEDIAT OPHTH STRAB
JI J. Pediatr. Ophthalmol. Strabismus.
PD JAN-FEB
PY 2014
VL 51
IS 1
BP 46
EP 52
DI 10.3928/01913913-20131223-02
PG 7
WC Ophthalmology; Pediatrics
SC Ophthalmology; Pediatrics
GA AB6CV
UT WOS:000331876100009
PM 24369683
ER
PT J
AU Travers, BG
Bigler, ED
Tromp, DPM
Adluru, N
Froehlich, AL
Ennis, C
Lange, N
Nielsen, JA
Prigge, MBD
Alexander, AL
Lainhart, JE
AF Travers, Brittany G.
Bigler, Erin D.
Tromp, Do P. M.
Adluru, Nagesh
Froehlich, Alyson L.
Ennis, Chad
Lange, Nicholas
Nielsen, Jared A.
Prigge, Molly B. D.
Alexander, Andrew L.
Lainhart, Janet E.
TI Longitudinal processing speed impairments in males with autism and the
effects of white matter microstructure
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; Processing speed; Diffusion tensor imaging; White matter;
Executive function
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; WISC-IV; AGE; CHILDREN;
ADULTS; COGNITION; ACCOUNT; ADOLESCENCE; PREDICTORS
AB The present study used an accelerated longitudinal design to examine group differences and age-related changes in processing speed in 81 individuals with autism spectrum disorder (ASD) compared to 56 age-matched individuals with typical development (ages 6-39 years). Processing speed was assessed using the Wechsler Intelligence Scale for Children-3rd edition (WISC-III) and the Wechsler Adult Intelligence Scale-3rd edition (WAIS-III). Follow-up analyses examined processing speed subtest performance and relations between processing speed and white matter microstructure (as measured with diffusion tensor imaging [DTI] in a subset of these participants). After controlling for full scale IQ the present results show that processing speed index standard scores were on average 12 points lower in the group with ASD compared to the group with typical development. There were, however, no significant group differences in standard score age-related changes within this age range. For subtest raw scores, the group with ASD demonstrated robustly slower processing speeds in the adult versions of the IQ test (i.e., WAIS-III) but not in the child versions (WISC-III), even though age-related changes were similar in both the ASD and typically developing groups. This pattern of results may reflect difficulties that become increasingly evident in ASD on more complex measures of processing speed. Finally, DTI measures of whole-brain white matter microstructure suggested that fractional anisotropy (but not mean diffusivity, radial diffusivity, or axial diffusivity) made significant but small-sized contributions to processing speed standard scores across our entire sample. Taken together, the present findings suggest that robust decreases in processing speed may be present in ASD, more pronounced in adulthood, and partially attributable to white matter microstructural integrity. Published by Elsevier Ltd.
C1 [Travers, Brittany G.; Tromp, Do P. M.; Adluru, Nagesh; Ennis, Chad; Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Waisman Lab Brain Imaging & Behav, Madison, WI 53705 USA.
[Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Bigler, Erin D.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
[Bigler, Erin D.] Univ Utah, Brain Inst Utah, Salt Lake City, UT 84112 USA.
[Bigler, Erin D.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA.
[Froehlich, Alyson L.; Prigge, Molly B. D.] Univ Utah, Dept Radiol, Salt Lake City, UT 84132 USA.
[Lange, Nicholas] Harvard Univ, Dept Psychiat, Boston, MA 02115 USA.
[Lange, Nicholas] Harvard Univ, Dept Biostat, Boston, MA 02115 USA.
[Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02478 USA.
[Nielsen, Jared A.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84132 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Psychiat, Madison, WI 53719 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Med Phys, Madison, WI 53705 USA.
RP Travers, BG (reprint author), Univ Wisconsin, Waisman Lab Brain Imaging & Behav, 1500 Highland Ave, Madison, WI 53705 USA.
EM btravers@wisc.edu
FU National Institute of Mental Health [RO1 MH080826, RO1 MH084795]; Eunice
Kennedy Shriver National Institute of Child Health and Human Development
[T32 HD07489, P30 HD003352]; Hartwell Foundation; Poelman Foundation
FX This work was supported by the National Institute of Mental Health [RO1
MH080826 to JEL, ALA, NL, EDB; and RO1 MH084795 to JEL, NL], the Eunice
Kennedy Shriver National Institute of Child Health and Human Development
[T32 HD07489 to BGT, and P30 HD003352 to the Waisman Center], the
Hartwell Foundation [to BGT], and the Poelman Foundation [to EDB]. The
content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institute of
Mental Health, the National Institute of Child Health & Development, or
the National Institutes of Health. We thank Zhan Xu, Anne M. Bartosic,
Annahir Cariello, Celeste Knoles, Sam Doran, Dan Destiche, Steven Hesse,
and Daniel Witt for their contributions to this project. We acknowledge
other members of the UARP who were involved in the early stages of IQ
data collection. We sincerely thank the children, adolescents, and
adults with Autism, the individuals with typical development, and all
the families who participated in this study.
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NR 53
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD JAN
PY 2014
VL 53
BP 137
EP 145
DI 10.1016/j.neuropsychologia.2013.11.008
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AB3AG
UT WOS:000331663100014
PM 24269298
ER
PT J
AU Burket, JA
Benson, AD
Tang, AH
Deutsch, SI
AF Burket, Jessica A.
Benson, Andrew D.
Tang, Amy H.
Deutsch, Stephen I.
TI Rapamycin improves sociability in the BTBR T(+)Itpr3(tf)/J mouse model
of autism spectrum disorders
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Rapamycin; NMDA receptor; mTOR signaling; Sociability; BTBR mice
ID TYROSINE-PHOSPHATASE STEP; TUBEROUS SCLEROSIS; MAMMALIAN TARGET; BALB/C
MICE; SIGNALING PATHWAY; T+TF/J MICE; MTOR; INHIBITION; RELEVANT;
STEREOTYPIES
AB Overactivation of the mammalian target of rapamycin (mTOR) has been implicated in the pathogenesis of syndromic forms of autism spectrum disorders (ASDs), such as tuberous sclerosis complex, neurofibromatosis 1, and fragile X syndrome. Administration of mTORC1 (mTOR complex 1) inhibitors (e.g. rapamycin) in syndromic mouse models of ASDs improved behavior, cognition, and neuropathology. However, since only a minority of ASDs are due to the effects of single genes (similar to 10%), there is a need to explore inhibition of mTOR activity in mouse models that may be more relevant to the majority of nonsyndromic presentations, such as the genetically inbred BTBR T+Itpr3(tf)/j (BTBR) mouse model of ASDs. BTBR mice have social impairment and exhibit increased stereotypic behavior. In prior work, D-cycloserine, a partial glycinea site agonist that targets the N-methyl-D-aspartate (NMDA) receptor, was shown to improve sociability in both Balb/c and BTBR mouse models of ASDs. Importantly, NMDA receptor activation regulates mTOR signaling activity. The current study investigated the ability of rapamycin (10 mg/kg, i.p. x four days), an mTORC1 inhibitor, to improve sociability and stereotypic behavior in BTBR mice. Using a standard paradigm to assess mouse social behavior, rapamycin improved several measures of sociability in the BTBR mouse, suggesting that mTOR overactivation represents a therapeutic target that mediates or contributes to impaired sociability in the BTBR mouse model of ASDs. Interestingly, there was no effect of rapamycin on stereotypic behaviors in this mouse model. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Burket, Jessica A.; Benson, Andrew D.; Deutsch, Stephen I.] Eastern Virginia Med Sch, Dept Psychiat & Behav Sci, Norfolk, VA 23501 USA.
[Tang, Amy H.] Eastern Virginia Med Sch, Dept Microbiol & Mol Cell Biol, Norfolk, VA 23501 USA.
[Deutsch, Stephen I.] Dept Psychiat & Behav Sci, Anne Armistead Robinson Endowed Chair Psychiat, Norfolk, VA 23507 USA.
RP Deutsch, SI (reprint author), Dept Psychiat & Behav Sci, Anne Armistead Robinson Endowed Chair Psychiat, 825 FairFax Ave,Suite 710, Norfolk, VA 23507 USA.
EM deutscsi@evms.edu
FU Office of the Dean of Eastern Virginia Medical School; Research
Enhancement Grant from Eastern Virginia Medical School; Commonwealth
Health Research Board of the Commonwealth of Virginia
FX The authors acknowledge the support they received from the Office of the
Dean of Eastern Virginia Medical School, a Research Enhancement Grant
from Eastern Virginia Medical School, and a grant from the Commonwealth
Health Research Board of the Commonwealth of Virginia.
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NR 38
TC 7
Z9 8
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0361-9230
EI 1873-2747
J9 BRAIN RES BULL
JI Brain Res. Bull.
PD JAN
PY 2014
VL 100
BP 70
EP 75
DI 10.1016/j.brainresbull.2013.11.005
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AB0KG
UT WOS:000331480000010
PM 24295733
ER
PT J
AU Uzunova, G
Hollander, E
Shepherd, J
AF Uzunova, Genoveva
Hollander, Eric
Shepherd, Jason
TI The Role of Ionotropic Glutamate Receptors in Childhood
Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X
Syndrome
SO CURRENT NEUROPHARMACOLOGY
LA English
DT Article
DE AMPA receptor; Arc; autism spectrum disorder; Fragile X syndrome;
GRIP1/2; kainate receptor; MAP1B; memantine; metabotropic glutamate
receptor; neuroligin; NMDA receptor
ID LONG-TERM DEPRESSION; MENTAL-RETARDATION PROTEIN; PLACEBO-CONTROLLED
TRIAL; PERVASIVE DEVELOPMENTAL DISORDERS; TYROSINE-PHOSPHATASE STEP;
DOMAIN-CONTAINING PROTEIN; ANTERIOR PIRIFORM CORTEX; FAMILY-BASED
ASSOCIATION; MOSSY FIBER SYNAPSES; FMR1 KNOCKOUT MICE
AB Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS.
C1 [Uzunova, Genoveva; Hollander, Eric] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat, Autism & Obsess Compuls Spectrum Program, Bronx, NY 10467 USA.
[Shepherd, Jason] Univ Utah, Sch Med, Dept Neurobiol & Anat, Salt Lake City, UT 84132 USA.
RP Uzunova, G (reprint author), Montefiore Med Ctr, Albert Einstein Coll Med, Dept Psychiat, Autism & Obsess Compuls Spectrum Program, 111 E 210th St, Bronx, NY 10467 USA.
EM genoveva_uzunova@msn.com
FU NINDS [4R00NS076364-03]
FX Dr. Jason Shepherd is supported by the NINDS (4R00NS076364-03).
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NR 283
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1570-159X
EI 1875-6190
J9 CURR NEUROPHARMACOL
JI Curr. Neuropharmacol.
PD JAN
PY 2014
VL 12
IS 1
BP 71
EP 98
DI 10.2174/1570159X113116660046
PG 28
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AB0DL
UT WOS:000331461900006
PM 24533017
ER
PT J
AU Strecker, S
Hazelwood, ZJ
Shakespeare-Finch, J
AF Strecker, Shannon
Hazelwood, Zoe J.
Shakespeare-Finch, Jane
TI Postdiagnosis personal growth in an Australian population of parents
raising children with developmental disability
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE posttraumatic growth; parents; child disability; developmental
disability; salutogenesis
ID POSTTRAUMATIC GROWTH; FAMILIES; STRESS; AUTISM; ADJUSTMENT; SURVIVORS;
OUTCOMES; MOTHERS; TRAUMA; IMPACT
AB Background Parenting a child with a developmental disability presents a variety of long-term physical and emotional challenges. When exploring parent wellbeing, the disability field is dominated by a deficit model despite parents reportedly demonstrating coping and resilience. The current study is embedded in a salutogenic theory (Antonovsky, 1979) and explores the potential for parents of children diagnosed with a developmental disability to undergo positive changes.
Method Participants were 6 fathers and 27 mothers who completed measures of distress and posttraumatic growth.
Results Compared with a number of other Australian samples, participants reported significantly higher levels of posttraumatic growth. Reports of growth did not negate reports of distress. Results also indicated that constructs of distress and growth were independent.
Conclusions The research has important implications for disability support services, reminding providers to be cognisant of the potential for growth, as well as distress, thereby permitting an atmosphere conducive to exploring such outcomes.
C1 [Strecker, Shannon; Hazelwood, Zoe J.; Shakespeare-Finch, Jane] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Sch Psychol & Counselling, Brisbane, Qld 4001, Australia.
RP Hazelwood, ZJ (reprint author), Queensland Univ Technol, Sch Psychol & Counselling, Victoria Pk Rd, Kelvin Grove, Qld 4059, Australia.
EM z.hazelwood@qut.edu.au
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NR 46
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 1
EP 9
DI 10.3109/13668250.2013.835035
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400001
ER
PT J
AU Leong, HM
Stephenson, J
Carter, M
AF Leong, H. M.
Stephenson, Jennifer
Carter, Mark
TI The use of sensory integration therapy in Malaysia and Singapore by
special education teachers in early intervention settings
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE sensory integration therapy; early intervention; Malaysia; Singapore;
evidence-based practice; controversial therapies; desensitisation
ID AUTISM SPECTRUM DISORDERS; OCCUPATIONAL-THERAPY; MODULATION DISORDER;
CHILDREN; FIDELITY; EFFICACY; BEHAVIOR; DISABILITIES; MANAGEMENT;
STEREOTYPY
AB Background Sensory integration (SI) therapy is an intervention widely used with children with disability despite the lack of evidence regarding its efficacy.
Method A questionnaire was distributed to early intervention teachers in Malaysia and Singapore. Information was sought on how early intervention teachers learned about SI therapy, the forms of SI therapy they used, and the benefits they expected.
Results Many activities reported as SI therapy were common early intervention activities. Teachers appeared to be particularly interested in SI therapy as an intervention for challenging behaviours related to sensory stimuli but had difficulty explaining how the therapy resulted in the benefits they perceived. Teachers also reported limited monitoring of student outcomes when using SI therapy.
Conclusions In light of the very weak evidence for the efficacy of SI therapy, but noting that the intervention continues to be used, it is recommended that good monitoring practices are maintained by teachers. The intervention should be discontinued where clear progress is not evident. Teachers and therapists need additional training in evidence-based practices. Further, alternative intervention strategies should be considered for challenging behaviours related to sensory stimuli.
C1 [Leong, H. M.; Stephenson, Jennifer; Carter, Mark] Macquarie Univ, Special Educ Ctr, Sydney, NSW 2109, Australia.
RP Leong, HM (reprint author), Macquarie Univ, Special Educ Ctr, Inst Early Childhood, Sydney, NSW 2109, Australia.
EM danleohanming@gmail.com
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NR 73
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 10
EP 23
DI 10.3109/13668250.2013.854876
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400002
ER
PT J
AU Trezise, KL
Gray, KM
Taffe, J
Sheppard, DM
AF Trezise, Kim L.
Gray, Kylie M.
Taffe, John
Sheppard, Dianne M.
TI Working memory in adolescent males with Down syndrome and males with
autism and intellectual disability: Implications for the classroom
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE Down syndrome; autism; intellectual disability; working memory
ID SHORT-TERM-MEMORY; DEVELOPMENTAL BEHAVIOR CHECKLIST; HIGH-RESOLUTION
MRI; FRAGILE-X-SYNDROME; FUNCTIONAL NEUROANATOMY; PSYCHOMETRIC
PROPERTIES; COGNITIVE-PROCESSES; EXECUTIVE FUNCTION; CHILDREN;
DYSFUNCTION
AB Background To develop effective education strategies, a detailed knowledge of the working memory profile in Down syndrome (DS) and autism with intellectual disability (ID) is required.
Materials and Methods Fifteen adolescents with DS, 11 boys with autism and ID, and 12 boys with nonspecific ID (NSID) were compared on 2 versions of a novel working memory task that varied only in modality of presentation (visual or auditory).
Results The groups with DS and with autism and ID demonstrated significantly poorer working memory performances than the group with NSID. No predictors of working memory performance were found.
Conclusions Recommendations to support the working memory difficulties of the groups with DS and autism and ID in the classroom include reducing the amount of information to be processed at a time, as well as providing visual or verbal (as appropriate) prompts and cues to reduce the need to hold information in working memory.
C1 [Trezise, Kim L.] Monash Univ, Sch Psychiat & Psychol, Expt Neuropsychol Res Unit, Clayton, Vic 3800, Australia.
[Gray, Kylie M.; Taffe, John] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Sheppard, Dianne M.] Monash Univ, Monash Injury Res Inst, Clayton, Vic 3800, Australia.
RP Sheppard, DM (reprint author), Monash Univ, Monash Injury Res Inst, Bldg 70,Clayton Campus, Clayton, Vic 3800, Australia.
EM dianne.sheppard@monash.edu.au
RI Gray, Kylie/H-3345-2014
OI Gray, Kylie/0000-0001-6518-4240
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NR 65
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 24
EP 34
DI 10.3109/13668250.2013.874550
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400003
ER
PT J
AU Cridland, EK
Caputi, P
Jones, SC
Magee, CA
AF Cridland, Elizabeth K.
Caputi, Peter
Jones, Sandra C.
Magee, Christopher A.
TI Understanding high-functioning autism during adolescence: A personal
construct theory approach
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE personal construct theory; high-functioning autism; adolescence;
adolescent development; support services; Asperger syndrome
ID QUALITY-OF-LIFE; SPECTRUM DISORDERS; ASPERGER-SYNDROME;
LEARNING-DISABILITIES; SOCIAL SUPPORT; GRID TECHNIQUE; CHILDREN; FAMILY;
SYSTEM; MODEL
AB Background Personal construct theory (PCT) is a constructivist approach to understanding human thought and action. Preliminary research focusing on applying PCT concepts and methodologies to understanding individuals with high-functioning autism (HFA) has suggested its utility for both research and clinical interventions. The developmental period of adolescence has also been outlined according to PCT. However, PCT has not been applied to the more specific subgroup of adolescents with HFA, despite various theoretical tenets suggesting its utility.
Conclusions In addressing this research gap, we considered the following adolescent developmental tasks with particular reference to adolescents with HFA: (a) functioning within the increasingly complex world of adulthood, (b) identity development, and (c) development of higher order processing styles (including abstract thinking and flexible processing). These issues were described using PCT concepts. Finally, we considered ways to support individuals and families living with adolescents with HFA.
C1 [Cridland, Elizabeth K.; Caputi, Peter] Univ Wollongong, Sch Psychol, Wollongong, NSW 2522, Australia.
[Cridland, Elizabeth K.; Caputi, Peter; Jones, Sandra C.; Magee, Christopher A.] Univ Wollongong, Ctr Hlth Initiat, Wollongong, NSW 2522, Australia.
RP Cridland, EK (reprint author), Univ Wollongong, Sch Psychol, Bldg 41, Wollongong, NSW 2522, Australia.
EM ekc977@uowmail.edu.au
RI Jones, Sandra/D-3854-2011
OI Jones, Sandra/0000-0002-0258-3348
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NR 70
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 1
BP 108
EP 118
DI 10.3109/13668250.2013.870331
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA4HT
UT WOS:000331057400012
ER
PT J
AU Stiel, B
Clifford, CWG
Mareschal, I
AF Stiel, Ben
Clifford, Colin W. G.
Mareschal, Isabelle
TI Adaptation to vergent and averted eye gaze
SO JOURNAL OF VISION
LA English
DT Article
DE gaze; adaptation; vergence
ID SUPERIOR TEMPORAL SULCUS; VISUAL REPRESENTATION; PERCEPTION; DIRECTION;
LOOKING; FACE; CATEGORIES; AUTISM; ME
AB Previous adaptation studies have revealed the tuning properties of mechanisms coding left-right averted gaze. Here, Experiment 1 used an adaptation procedure to investigate the mechanisms that encode vergent eye gaze. Following prolonged exposure to convergent or divergent gaze, observers were more likely to categorize smaller gaze deviations in the adapted direction as parallel (i.e., nonvergent). We then examined whether adaptation was occurring to the eyes independently (monocular gaze direction) as opposed to the two eyes as a unitary stimulus (binocular gaze direction). In Experiment 2, we interleaved presentations of convergent and divergent adaptors and tested with either congruent (vergent) or incongruent (left-right) stimuli. Similarly, we interleaved presentations of leftward-and rightward-averted adaptors and tested with congruent (left-right) and incongruent (vergent) stimuli. If adaptation were driven solely by monocular gaze direction, congruent and incongruent adaptation would be similar because, at the level of an individual eye, the stimuli are identical. We find considerable adaptation in the incongruent conditions, consistent with adaptation to individual eye directions. However, we also find greater adaptation in congruent conditions, implicating the involvement of mechanisms that encode binocular gaze direction.
C1 [Stiel, Ben; Clifford, Colin W. G.; Mareschal, Isabelle] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Stiel, Ben; Clifford, Colin W. G.; Mareschal, Isabelle] Univ Sydney, Australian Ctr Excellence Vis Sci, Sydney, NSW 2006, Australia.
[Clifford, Colin W. G.] Univ New S Wales, Sch Psychol, Sydney, NSW, Australia.
[Mareschal, Isabelle] Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
RP Mareschal, I (reprint author), Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
EM i.mareschal@qmul.ac.uk
FU Australian Research Council Discovery Project [DP120102589]; Australian
Research Council Centre of Excellence in Vision Science; Australian
Research Council Future Fellowship [FT110100150]
FX This work is supported by Australian Research Council Discovery Project
DP120102589 to CC and Dr. Andy Calder and the Australian Research
Council Centre of Excellence in Vision Science. CC is supported by
Australian Research Council Future Fellowship FT110100150. Many thanks
to Cliff Deyo for his generous assistance in revising an earlier draft
of this manuscript.
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NR 39
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 1
DI 10.1167/14.1.15
PG 10
WC Ophthalmology
SC Ophthalmology
GA AA6QN
UT WOS:000331223000015
ER
PT J
AU Caldwell-Harris, CL
Jordan, CJ
AF Caldwell-Harris, Catherine L.
Jordan, Chloe J.
TI Systemizing and special interests: Characterizing the continuum from
neurotypical to autism spectrum disorder
SO LEARNING AND INDIVIDUAL DIFFERENCES
LA English
DT Article
DE Autism spectrum disorder; Asperger syndrome; Special interests; Adults;
Systemizing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; SEX-DIFFERENCES; QUOTIENT
AQ; CHILDREN; PERFORMANCE; ATTENTION; EMPATHY; ADULTS
AB Special interests have been studied in children with autism spectrum disorder (ASD) but not in adults. Using an online survey, it was found that individuals with ASD reported more intense interests in systemizable domains, relative to neurotypical adults. Self-reported systemizing preference was correlated with intensity of interest in systemizable domains both for those with ASD and for neurotypical young adults. Few gender differences were found in the neurotypical group in the expected categories of machines, technology and vehicles, where gender differences have been found in children. Gender differences in these categories did appear for the ASD group. We propose a strength-based model of special interests, with the hobbies of neurotypical forming a continuum with the special interests of ASD. (C) 2013 Elsevier Inc. All rights reserved.
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RP Caldwell-Harris, CL (reprint author), Boston Univ, Dept Psychol, 64 Cummington St, Boston, MA 02275 USA.
EM charris@bu.edu
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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 1041-6080
EI 1873-3425
J9 LEARN INDIVID DIFFER
JI Learn. Individ. Differ.
PD JAN
PY 2014
VL 29
BP 98
EP 105
DI 10.1016/j.lindif.2013.10.005
PG 8
WC Psychology, Educational
SC Psychology
GA AA9NO
UT WOS:000331420400012
ER
PT J
AU Lee, JH
Choi, E
Song, M
Shin, BS
AF Lee, Jin-Hee
Choi, Eikyu
Song, Minseok
Shin, Byeong-Seok
TI Dreamware: edutainment system for children with developmental disability
SO MULTIMEDIA TOOLS AND APPLICATIONS
LA English
DT Article
DE Edutainment system; Multimedia system; Embedded system; Developmental
disability; Authoring tool; Sensory integration
ID DISORDER; AUTISM; PLAY
AB We designed and implemented an edutainment platform, Dreamware. It effectively helps education, sensibility treatment and intelligence training for children with developmental disability. We developed special toy-like hardware and software tools: a content authoring tool that makes a variety of multimedia content operating on the hardware, a management tool that provides training results to instructors, and a real-time monitoring tool to observe the current state of learning. The hardware is designed to consider the characteristics of children with developmental disability. It can provide sensibility training, such as visual, auditory, and tactile senses to them. The easy-to-use authoring tool enables teachers and non-specialists to make educational content conveniently. In addition, the real-time monitoring tool helps observe the user's status, even outside the classroom. The management tool stores training results and provides the result for further steps. Efficient repetitive training is possible without restriction of time and location using this platform. We can recognize that our system is effective in improving their concentration and learning.
C1 [Lee, Jin-Hee; Choi, Eikyu; Song, Minseok; Shin, Byeong-Seok] Inha Univ, Dept Comp Sci & Informat Engn, Inchon 402751, South Korea.
RP Shin, BS (reprint author), Inha Univ, Dept Comp Sci & Informat Engn, 253 Yonghyun Dong, Inchon 402751, South Korea.
EM jhlee07@inhaian.net; luciel95@hanmail.net; mssong@inha.ac.kr;
bsshin@inha.ac.kr
FU IT R&D program of MKE/KEIT [10035243]
FX This work was supported by the IT R&D program of MKE/KEIT. [10035243,
Component based Design Theory and Control Kernel for CPS].
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NR 19
TC 3
Z9 3
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1380-7501
EI 1573-7721
J9 MULTIMED TOOLS APPL
JI Multimed. Tools Appl.
PD JAN
PY 2014
VL 68
IS 2
BP 305
EP 319
DI 10.1007/s11042-012-1089-x
PG 15
WC Computer Science, Information Systems; Computer Science, Software
Engineering; Computer Science, Theory & Methods; Engineering, Electrical
& Electronic
SC Computer Science; Engineering
GA AA4RI
UT WOS:000331083400008
ER
PT J
AU Rodrigues, DH
Rocha, NP
Sousa, LFD
Barbosa, IG
Kummer, A
Teixeira, AL
AF Rodrigues, David Henrique
Rocha, Natalia Pessoa
Sousa, Larissa Fonseca da Cunha
Barbosa, Izabela Guimaraes
Kummer, Arthur
Teixeira, Antonio Lucio
TI Changes in Adipokine Levels in Autism Spectrum Disorders
SO NEUROPSYCHOBIOLOGY
LA English
DT Article
DE Autism; Adipokines; Cytokines; Immune system
ID INSULIN-RESISTANCE; PLASMA LEPTIN; ADIPONECTIN; EXPRESSION;
INFLAMMATION; OBESITY; DISEASE
AB Background and Objective: The etiopathogenesis of autism spectrum disorders (ASD) is largely unknown, but it seems to involve dysfunction in several biological systems. Among many possible biological pathways, the immune system has emerged as potentially involved. Recent studies have shown association between cytokines (molecules that mediate immune cell interaction) and ASD. Adipokines are cytokines secreted mainly by adipose tissue and may have systemic effects. The main objective of this study was to compare the plasma levels of three adipokines between patients with ASD and healthy controls. Another aim was to correlate the levels of these adipokines and the severity of autistic symptoms as measured by the Social Responsiveness Scale (SRS). Methods: We collected plasma from 30 patients and 19 controls and measured the levels of adiponectin, leptin and resistin using a commercially available kit. We also used the SRS as a tool to assess the severity of autistic symptoms. Results: We found decreased levels of resistin, increased levels of leptin and unaltered levels of adiponectin in plasma from ASD subjects in comparison with controls. There was also a negative correlation between the levels of adiponectin and the severity of symptoms as assessed by the SRS. Conclusion: There are significant changes in the plasma levels of adipokines from patients with ASDs. They suggest the occurrence of systemic changes in ASD and may be hallmarks of the disease. (C) 2013 S. Karger AG, Basel
C1 [Rodrigues, David Henrique; Rocha, Natalia Pessoa; Sousa, Larissa Fonseca da Cunha; Barbosa, Izabela Guimaraes; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Sch Med, Translat Psychoneuroimmunol Grp, Lab Imunofarmacol, BR-31270901 Belo Horizonte, MG, Brazil.
[Barbosa, Izabela Guimaraes; Kummer, Arthur; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Sch Med, Neuropsychiat Branch, Neurol Unit, BR-31270901 Belo Horizonte, MG, Brazil.
[Kummer, Arthur] Univ Fed Minas Gerais, Sch Med, Dept Mental Hlth, BR-31270901 Belo Horizonte, MG, Brazil.
RP Rodrigues, DH (reprint author), Univ Fed Minas Gerais, Lab Imunofarmacol, Dept Bioquim & Imunol, Inst Ciencias Biol, Bloco 04,Sala 202,Av Antonio Carlos 6627, BR-31270901 Belo Horizonte, MG, Brazil.
EM dhenrodrigues@gmail.com
FU CAPES; CNPq; Fapemig, Brazil
FX This work was funded by CAPES, CNPq, and Fapemig, Brazil.
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NR 28
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0302-282X
EI 1423-0224
J9 NEUROPSYCHOBIOLOGY
JI Neuropsychobiology
PY 2014
VL 69
IS 1
BP 6
EP 10
DI 10.1159/000356234
PG 5
WC Neurosciences; Psychiatry; Psychology
SC Neurosciences & Neurology; Psychiatry; Psychology
GA AB3DA
UT WOS:000331670300002
PM 24401207
ER
PT J
AU Kayama, M
Haight, W
AF Kayama, Misa
Haight, Wendy
TI Disability and Stigma: How Japanese Educators Help Parents Accept Their
Children's Differences
SO SOCIAL WORK
LA English
DT Article
DE Japan; cognitive and behavioral disabilities; special education;
stigma-sensitive practice; support for families
ID STATE CARE; PERSPECTIVES; MOTHERS
AB In this report, part of a larger ethnographic study, the authors examined the support Japanese elementary school educators provide to parents of children with relatively mild cognitive and behavioral disabilities, such as learning disabilities, attention deficit/hyperactivity disorders, and high-functioning autism. Conditions that affect children's learning and behaviors are widespread, but cultures vary in responses to children with such difficulties and their families. In many cultures, disability remains a sensitive issue due to lingering stigma. Japan's recent implementation of special education services for children with mild cognitive and behavioral disabilities provided a unique context in which to examine otherwise taken-for-granted beliefs and practices related to disability. Participant observations in a Japanese elementary school and individual interviews with educators and parents suggest that parents' sensitivity to other people's "eyes," or stigma, can be an obstacle to their acceptance of their children's need for special education, permission for their children to receive services, and collaboration with educators. Educators supported parents through a steadfast focus on emotional support, communication, relationship building, and partnerships. Japanese practices and adults' reflections on stigma provide a broader context for international, school, and other social workers to reflect on their own beliefs and practices with families of children with disabilities.
C1 [Kayama, Misa; Haight, Wendy] Univ Minnesota Twin Cities, Sch Social Work, St Paul, MN 55108 USA.
RP Kayama, M (reprint author), Univ Minnesota Twin Cities, Sch Social Work, 1404 Gortner Ave, St Paul, MN 55108 USA.
EM mkayama@umn.edu
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NR 28
TC 1
Z9 1
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0037-8046
EI 1545-6846
J9 SOC WORK
JI Soc. Work
PD JAN
PY 2014
VL 59
IS 1
BP 24
EP 33
DI 10.1093/sw/swt027
PG 10
WC Social Work
SC Social Work
GA AB0ER
UT WOS:000331465100003
PM 24640228
ER
PT J
AU Nordenbaek, C
Jorgensen, M
Kyvik, KO
Bilenberg, N
AF Nordenbaek, Claudia
Jorgensen, Meta
Kyvik, Kirsten Ohm
Bilenberg, Niels
TI A Danish population-based twin study on autism spectrum disorders
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; Twins; Concordance rates; Population based;
Screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
CHILD-PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; SCREENING
QUESTIONNAIRE; ENVIRONMENTAL-FACTORS; PRESCHOOL-CHILDREN;
ASPERGER-SYNDROME; PREVALENCE; PAIRS
AB Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the "Child Behaviour Checklist" (CBCL) were used in the first screening phase, while screening in the second phase included the "Social and Communication Questionnaire" and the "Autism Spectrum Screening Questionnaire". The final clinical assessment was based on "gold standard" diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.
C1 [Nordenbaek, Claudia; Bilenberg, Niels] Univ Southern Denmark, Dept Child & Adolescent Psychiat Odense, DK-5000 Odense C, Denmark.
[Jorgensen, Meta] Aarhus Univ Hosp, Psychiat Hosp Children & Adolescents, DK-8800 Aarhus, Denmark.
[Kyvik, Kirsten Ohm] Univ Southern Denmark, Inst Reg Hlth Serv Res, DK-5000 Odense C, Denmark.
[Kyvik, Kirsten Ohm] Univ Southern Denmark, Odense Patient Data Explorat Network OPEN, DK-5000 Odense C, Denmark.
RP Nordenbaek, C (reprint author), Univ Southern Denmark, Dept Child & Adolescent Psychiat Odense, Sdr Blvd 29, DK-5000 Odense C, Denmark.
EM claudia@dadlnet.dk
RI Bilenberg, Niels/I-6027-2014
FU Danish Research Council; Psychiatric Research Foundation in the Region
of Southern Denmark; Clinical Institute at University of Southern
Denmark; Beatrice Surovell Haskell Foundation for Child Mental Health
Research of Copenhagen; Ludvig and Sara Elsass Foundation
FX We are very grateful to all the twin families who participated in this
study. The study has been supported by grants from the Danish Research
Council, the Psychiatric Research Foundation in the Region of Southern
Denmark, the Clinical Institute at University of Southern Denmark, the
Beatrice Surovell Haskell Foundation for Child Mental Health Research of
Copenhagen and the Ludvig and Sara Elsass Foundation.
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NR 71
TC 9
Z9 10
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 JAN
PY 2014
VL 23
IS 1
BP 35
EP 43
DI 10.1007/s00787-013-0419-5
PG 9
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA1AJ
UT WOS:000330828200005
PM 23661220
ER
PT J
AU Weiner, RH
Greene, RL
AF Weiner, Robert H.
Greene, Roger L.
TI INTENTION-BASED THERAPY FOR AUTISM SPECTRUM DISORDER: PROMISING RESULTS
OF A WAIT-LIST CONTROL STUDY IN CHILDREN
SO EXPLORE-THE JOURNAL OF SCIENCE AND HEALING
LA English
DT Article
DE Intention; consciousness; autism; ASD; NeuroModulation Technique;
therapy; treatment
ID ABERRANT BEHAVIOR CHECKLIST; SUBJECT VARIABLES; RATING-SCALE;
INTERVENTION; INDIVIDUALS; KINESIOLOGY; VALIDITY
AB Background: Autism is a complex neurodevelopmental disability that usually manifests during the first three years of life and typically lasts throughout a person's lifetime. The purpose of this study is to investigate the efficacy of NeuroModulation Technique (NMT), a form of intention-based therapy, in improving functioning in children diagnosed with autism.
Methods: A total of 18 children who met the study criteria were selected to participate. All children completed baseline measures. The children in the experimental group (n = 9) received two sessions a week of NMT for six weeks. Then, children in the wait-list control group (n = 9) received two sessions a week of NMT for six weeks. Primary efficacy outcome measures included the Pervasive Developmental Disorder Behavioral Inventory Autism Composite Index, the Aberrant Behavior Checklist Community Total Score, and the Autism Treatment Evaluation Checklist Total Score. Our hypotheses were that children in both groups would show significant improvement over their respective baseline scores following NMT treatment, which would reflect an improvement in adaptive behaviors as well as a decrease in maladaptive behaviors.
Results: Statistical analysis indicates a significant improvement in both the experimental and wait-list control group on all primary outcome measures following NMT treatment. The wait-list control group demonstrated no significant improvement on test measures over baseline scores during the wait period. No adverse reactions were reported.
Conclusions: These findings suggest that NMT is a promising intervention for autism that has the potential to produce a significant reduction in maladaptive behaviors and a significant increase in adaptive behaviors within a relatively short period of time.
C1 [Greene, Roger L.] Palo Alto Univ, Palo Alto, CA USA.
RP Weiner, RH (reprint author), 8499 Greenville Ave,Suite 106, Dallas, TX 75231 USA.
EM dr.r.weiner@gmail.com
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Schmitt WH, 1999, INT J NEUROSCI, V97, P77, DOI 10.3109/00207459908994304
Schopler E., 1988, CHILDHOOD AUTISM RAT
Tiller WA, 2006, J ALTERN COMPLEM MED, V12, P1015, DOI 10.1089/acm.2006.12.1015
Tiller WA, 2005, SOME SCI ADVENTURES
Tiller WA, 2001, CONSCIOUS ACTS CREAT
Tiller WA, 2007, PSYCHOENERGETIC SCI
Warren Z., 2011, COMP EFFECTIVENESS R, V26
Warren Z, 2011, PEDIATRICS, V127, pE1303, DOI 10.1542/peds.2011-0426
NR 48
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1550-8307
EI 1878-7541
J9 EXPLORE-NY
JI Explore-J Sci. Heal.
PD JAN-FEB
PY 2014
VL 10
IS 1
BP 13
EP 23
DI 10.1016/j.explore.2013.10.005
PG 11
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AA2KI
UT WOS:000330923100005
PM 24439092
ER
PT J
AU Benton, L
Johnson, H
AF Benton, Laura
Johnson, Hilary
TI Structured approaches to participatory design for children: can
targeting the needs of children with autism provide benefits for a
broader child population?
SO INSTRUCTIONAL SCIENCE
LA English
DT Article
DE Participatory design; Technology design; Children with special needs;
Structured design process
ID TECHNOLOGY
AB In the past technology products created to overcome accessibility and usability issues experienced by individuals with special needs have also resulted in greater usability for the wider population. Technology is increasingly being seen as a key component within the education of children with special needs and recently researchers have developed tailored approaches to involving this population in designing the technology. However, it is not known if these approaches could also benefit participation in a wider population. This paper investigates the potential benefits of using a new structured and supportive participatory design (PD) approach IDEAS, tailored to the specific needs of children with autism spectrum disorders (ASD), for mainstream schoolchildren. The development of this new approach is guided by the TEACCH program and additionally draws on ideas from existing PD approaches for children. A study has been undertaken to trial this approach with four design teams, two teams including children with ASD and two teams including mainstream schoolchildren. Their design task was to develop a mathematics game over a series of six design sessions following the IDEAS approach. The findings reveal that a structured and supportive PD approach can benefit both children with ASD and mainstream children. However, these benefits varied between and within different groups, with some children requiring the additional structure/support more than others. Future work intends to build upon these findings to develop a PD toolbox for a broader child population, enabling researchers to provide appropriate tailored support based on children's individual characteristics and needs.
C1 [Benton, Laura; Johnson, Hilary] Univ Bath, Bath BA2 7AY, Avon, England.
RP Benton, L (reprint author), Univ London, Inst Educ, London WC1N 1AZ, England.
EM l.benton@ioe.ac.uk
CR American Psychiatric Association (APA), 2000, DSM 4 DIAGN STAT MAN
Benton L., 2011, P 2011 ANN C HUM FAC, P1759, DOI DOI 10.1145/1979742.1979841
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Mesibov G. B., 2007, TEACCH APPROACH AUTI
Moraveji N, 2007, CONFERENCE ON HUMAN FACTORS IN COMPUTING SYSTEMS, VOLS 1 AND 2, P1371
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NR 20
TC 4
Z9 4
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0020-4277
EI 1573-1952
J9 INSTR SCI
JI Instr. Sci.
PD JAN
PY 2014
VL 42
IS 1
SI SI
BP 47
EP 65
DI 10.1007/s11251-013-9297-y
PG 19
WC Education & Educational Research; Psychology, Educational
SC Education & Educational Research; Psychology
GA AA0JP
UT WOS:000330781700004
ER
PT J
AU Waga, C
Asano, H
Sanagi, T
Suzuki, E
Nakamura, Y
Tsuchiya, A
Itoh, M
Goto, Y
Kohsaka, S
Uchino, S
AF Waga, Chikako
Asano, Hirotsugu
Sanagi, Tomomi
Suzuki, Eri
Nakamura, Yasuko
Tsuchiya, Akiko
Itoh, Masayuki
Goto, Yu-ichi
Kohsaka, Shinichi
Uchino, Shigeo
TI Identification of two novel Shank3 transcripts in the developing mouse
neocortex
SO JOURNAL OF NEUROCHEMISTRY
LA English
DT Article
DE autism spectrum disorder; DNA methylation; MeCP2; SHANK3
ID POSTSYNAPTIC DENSITY PROTEINS; DNA METHYLATION; RETT-SYNDROME; MUTANT
MICE; AUTISM; GENE; MUTATIONS; EXPRESSION; FAMILY; MECP2
AB SHANK3 is a synaptic scaffolding protein enriched in the post-synaptic density of excitatory synapses. Since several SHANK3 mutations have been identified in a particular phenotypic group of patients with autism spectrum disorder (ASD), SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD. Several SHANK3 isoforms are known to be produced in the developing brain, but they have not been fully investigated. Here, we identified two different amino-terminus truncated Shank3 transcripts. One transcript, designated as Shank3c-3, produces an isoform that contains the entire carboxyl-terminus, but the other transcript, designated as Shank3c-4, produces a carboxyl-terminus truncated isoform. During development, expression of the novel Shank3 transcripts increased after birth, transiently decreased at P14 and then gradually increased again thereafter. We also determined that methyl CpG-binding protein 2 (MeCP2) is involved in regulating expression of the novel Shank3 transcripts. MeCP2 is a transcriptional regulator that has been identified as the causative molecule of Rett syndrome, a neurodevelopmental disorder that includes autistic behavior. We demonstrated a difference between the expression of the novel Shank3 transcripts in wild-type mice and Mecp2-deficient mice. These findings suggest that the SHANK3 isoforms may be implicated in the synaptic abnormality in Rett syndrome.
C1 [Waga, Chikako; Asano, Hirotsugu; Sanagi, Tomomi; Suzuki, Eri; Nakamura, Yasuko; Tsuchiya, Akiko; Kohsaka, Shinichi; Uchino, Shigeo] Natl Inst Neurosci, Dept Neurochem, Kodaira, Tokyo 187, Japan.
[Waga, Chikako; Itoh, Masayuki; Goto, Yu-ichi] Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 187, Japan.
[Uchino, Shigeo] Teikyo Univ, Sch Sci & Engn, Dept Biosci, Utsunomiya, Tochigi 3208551, Japan.
RP Uchino, S (reprint author), Teikyo Univ, Sch Sci & Engn, Dept Biosci, 1-1 Toyosatodai, Utsunomiya, Tochigi 3208551, Japan.
EM uchino@nasu.bio.teikyo-u.ac.jp
FU Ministry of Health, Labour and Welfare of Japan; Ministry of Education,
Culture, Sports, and Science and Technology of Japan; Japan Foundation
for Pediatric Research
FX This study was supported by grants from the Ministry of Health, Labour
and Welfare of Japan (SU), the Ministry of Education, Culture, Sports,
and Science and Technology of Japan (CW), and The Japan Foundation for
Pediatric Research (SU). The authors have no conflicts of interest to
declare.
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NR 30
TC 2
Z9 3
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 JAN
PY 2014
VL 128
IS 2
BP 280
EP 293
DI 10.1111/jnc.12505
PG 14
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AA3FY
UT WOS:000330979500008
PM 24164323
ER
PT J
AU Parikh, S
Goldstein, A
Koenig, MK
Scaglia, F
Enns, GM
Saneto, R
Anselm, I
Collins, A
Cohen, BH
DeBrosse, SD
Dimmock, D
Falk, MJ
Ganesh, J
Greene, C
Gropman, AL
Haas, R
Kahler, SG
Kamholz, J
Kendall, F
Korson, MS
Mattman, A
Milone, M
Niyazov, D
Pearl, PL
Reimschisel, T
Salvarinova-Zivkovic, R
Sims, K
Tarnopolsky, M
Tsao, CY
van Hove, J
Walsh, L
Wolfe, LA
AF Parikh, Sumit
Goldstein, Amy
Koenig, Mary Kay
Scaglia, Fernando
Enns, Gregory M.
Saneto, Russell
Anselm, Irina
Collins, Abigail
Cohen, Bruce H.
DeBrosse, Suzanne D.
Dimmock, David
Falk, Marni J.
Ganesh, Jaya
Greene, Carol
Gropman, Andrea L.
Haas, Richard
Kahler, Stephen G.
Kamholz, John
Kendall, Fran
Korson, Mark S.
Mattman, Andre
Milone, Margherita
Niyazov, Dmitriy
Pearl, Phillip L.
Reimschisel, Tyler
Salvarinova-Zivkovic, Ramona
Sims, Katherine
Tarnopolsky, Mark
Tsao, Chang-Yong
van Hove, Johan
Walsh, Laurence
Wolfe, Lynne A.
CA Mitochondrial Med Soc Clinical Dir
MMS Clinical Director's Work Grp
TI Practice patterns of mitochondrial disease physicians in North America.
Part 1: Diagnostic and clinical challenges
SO MITOCHONDRION
LA English
DT Article
DE Mitochondrial disease; Mitochondrial medicine; Clinical guidelines
ID POLYACRYLAMIDE-GEL ELECTROPHORESIS; RESPIRATORY-CHAIN DEFICIENCIES;
OXIDATIVE-PHOSPHORYLATION; DISORDERS; CRITERIA; CHILDREN; AUTISM; TOOL;
DNA
AB Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set of rules and paradigms for preventive care and management based in part on anecdotal experience. The Mitochondrial Medicine Society (MMS) assessed the current state of clinical practice from diagnosis, to preventive care and treatment as provided by various mitochondrial disease specialists in North America. We hope that by obtaining this information we can begin moving towards formulating a set of consensus criteria and establishing standards of care. (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
C1 [Anselm, Irina] Boston Childrens Hosp, Boston, MA USA.
[Collins, Abigail] Univ Colorado, Sch Med, Denver, CO USA.
[Cohen, Bruce H.] Childrens Hosp, Med Ctr Akron, NeuroDev Sci Ctr, Akron, OH USA.
[DeBrosse, Suzanne D.] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH USA.
[DeBrosse, Suzanne D.] Case Western Reserve Univ, Cleveland, OH 44106 USA.
[Dimmock, David] Med Coll Wisconsin, Dept Pediat, Div Genet, Milwaukee, WI 53226 USA.
[Falk, Marni J.] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA.
[Falk, Marni J.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Ganesh, Jaya] Childrens Hosp Philadelphia, Sect Metab Dis, Philadelphia, PA 19104 USA.
[Greene, Carol] Univ Maryland, Med Ctr, Baltimore, MD 21201 USA.
[Gropman, Andrea L.; Pearl, Phillip L.] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA.
[Gropman, Andrea L.] George Washington Univ Hlth Sci, Washington, DC USA.
[Haas, Richard] UCSD Med Ctr, La Jolla, CA USA.
[Haas, Richard] Rady Childrens Hosp San Diego, La Jolla, CA USA.
[Kahler, Stephen G.] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA.
[Kahler, Stephen G.] Arkansas Childrens Hosp, Little Rock, AR 72202 USA.
[Kamholz, John] Wayne State Univ, Detroit, MI USA.
[Kendall, Fran] Virtual Med Practice LLC, Atlanta, GA USA.
[Korson, Mark S.] Tufts Med Ctr, Boston, MA USA.
[Mattman, Andre] Vancouver Gen Hosp, Adult Metab Dis Clin, Vancouver, BC, Canada.
[Milone, Margherita] Mayo Med Ctr, Rochester, MN USA.
[Niyazov, Dmitriy] Ochsner Clin Fdn, Dept Pediat, New Orleans, IA USA.
[Reimschisel, Tyler] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA.
[Salvarinova-Zivkovic, Ramona] Univ British Columbia, BC Childrens Hosp, Dept Pediat, Div Biochem Dis, Vancouver, BC V5Z 1M9, Canada.
[Sims, Katherine] Harvard Univ, Sch Med, Boston, MA USA.
[Sims, Katherine] Massachusetts Gen Hosp, Boston, MA 02114 USA.
[Tarnopolsky, Mark] McMaster Univ, Hamilton, ON, Canada.
[Tsao, Chang-Yong] Nationwide Childrens Hosp, Columbus, OH USA.
[van Hove, Johan] Childrens Hosp Colorado, Denver, CO USA.
[Walsh, Laurence] Indiana Univ Sch Med, Indianapolis, IN 46202 USA.
[Walsh, Laurence] James Whitcomb Riley Hosp Children, Indianapolis, IN 46202 USA.
[Wolfe, Lynne A.] NIH, Bethesda, MD 20892 USA.
[Parikh, Sumit] Cleveland Clin, Childrens Hosp, Ctr Child Neurol, Cleveland, OH 44195 USA.
[Goldstein, Amy] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA 15213 USA.
[Koenig, Mary Kay] Univ Texas Houston, Sch Med, Div Child & Adolescent Neurol, Houston, TX USA.
[Scaglia, Fernando] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Scaglia, Fernando] Texas Childrens Hosp, Houston, TX 77030 USA.
[Enns, Gregory M.] Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Palo Alto, CA 94304 USA.
[Saneto, Russell] Univ Washington, Seattle Childrens Hosp, Seattle, WA 98195 USA.
RP Parikh, S (reprint author), Cleveland Clin, 9500 Euclid Ave,S60, Cleveland, OH 44195 USA.
EM parikhs@ccf.org
RI Falk, Marni/K-1997-2014
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NR 21
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1567-7249
EI 1872-8278
J9 MITOCHONDRION
JI Mitochondrion
PD JAN
PY 2014
VL 14
BP 26
EP 33
DI 10.1016/j.mito.2013.07.116
PG 8
WC Cell Biology; Genetics & Heredity
SC Cell Biology; Genetics & Heredity
GA AA2GD
UT WOS:000330912200004
PM 23891656
ER
PT J
AU Papoulidis, I
Oikonomidou, E
Orru, S
Siomou, E
Kontodiou, M
Eleftheriades, M
Bacoulas, V
Cigudosa, JC
Suela, J
Thomaidis, L
Manolakos, E
AF Papoulidis, Ioannis
Oikonomidou, Eirini
Orru, Sandro
Siomou, Elisavet
Kontodiou, Maria
Eleftheriades, Makarios
Bacoulas, Vasilios
Cigudosa, Juan C.
Suela, Javier
Thomaidis, Loretta
Manolakos, Emmanouil
TI Prenatal detection of TAR syndrome in a fetus with compound inheritance
of an RBM8A SNP and a 334-kb deletion: A case report
SO MOLECULAR MEDICINE REPORTS
LA English
DT Article
DE thrombocytopenia-absent radius syndrome; deletion; genetic disorder;
array-comparative genomic hybridization; phenotype; prenatal
ID THROMBOCYTOPENIA
AB Thrombocytopenia-absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life-threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array-comparative genomic hybridization, and a 5 untranslated region (UTR) low-frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334-kb deletion in the 1q21.1 region and a low-frequency 5 UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.
C1 [Papoulidis, Ioannis; Oikonomidou, Eirini; Siomou, Elisavet; Kontodiou, Maria; Manolakos, Emmanouil] Eurogenetica SA, Genet Lab, Thessaloniki 55133, Greece.
[Orru, Sandro; Manolakos, Emmanouil] Univ Cagliari, Binaghi Hosp, Dept Med Genet, I-09126 Cagliari, Italy.
[Eleftheriades, Makarios] Embryocare, Fetal Med Unit, Athens 11522, Greece.
[Bacoulas, Vasilios] Fetal Med Ctr, Athens 10674, Greece.
[Cigudosa, Juan C.; Suela, Javier] NIMGenetics, Madrid 28049, Spain.
[Thomaidis, Loretta] Univ Athens, Aglaia Kyriakou Childrens Hosp, Dept Pediat, Athens 11527, Greece.
RP Papoulidis, I (reprint author), Eurogenetica SA, Genet Lab, 7 Adrianopoulou Str, Thessaloniki 55133, Greece.
EM papoulidis@eurogenetica.gr
CR Albers CA, 2012, NAT GENET, V44, P435, DOI 10.1038/ng.1083
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NR 9
TC 0
Z9 0
PU SPANDIDOS PUBL LTD
PI ATHENS
PA POB 18179, ATHENS, 116 10, GREECE
SN 1791-2997
EI 1791-3004
J9 MOL MED REP
JI Mol. Med. Rep.
PD JAN
PY 2014
VL 9
IS 1
BP 163
EP 165
DI 10.3892/mmr.2013.1788
PG 3
WC Oncology; Medicine, Research & Experimental
SC Oncology; Research & Experimental Medicine
GA AA0KJ
UT WOS:000330783700026
PM 24220582
ER
PT J
AU Dudova, I
Kasparova, M
Markova, D
Zemankova, J
Beranova, S
Urbanek, T
Hrdlicka, M
AF Dudova, Iva
Kasparova, Martina
Markova, Daniela
Zemankova, Jana
Beranova, Stepanka
Urbanek, Tomas
Hrdlicka, Michal
TI Screening for autism in preterm children with extremely low and very low
birth weight
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE autism spectrum disorder; preterm children; screening; Autism Diagnostic
Observation Schedule; prevalence
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; MODIFIED
CHECKLIST; INFANTS; TODDLERS; AGE; PREVALENCE; SYMPTOMS; GENETICS; RISK
AB Background: Studies of children with very low birth weight (VLBW, 1,000-1,500 g) and extremely low birth weight (ELBW, less than 1,000 g) indicate that this population seems to be at increased risk of autism spectrum disorder (ASD).
Methods: Parents of 101 VLBW and ELBW children (age 2 years, corrected for prematurity) agreed to participate in the study and signed informed consents; however, parents of only 75 children (44 boys, 31 girls) completed the screening questionnaires. The screening battery included the Modified Checklist for Autism in Toddlers (M-CHAT), Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC), and the Infant/Toddler Sensory Profile (ITSP). Children with disabilities were excluded. All children who screened positive on any of the screening tools were subsequently invited for a detailed assessment.
Results: Thirty-two children (42.7%) screened positive on at least one of the screening questionnaires. The screening tool with the most positive results was the CSBS-DP-ITC (26 positive screens), followed by the M-CHAT (19 positive screens) and the ITSP (11 positive screens). Of the 32 children who tested positive, 19 participated in the detailed follow-up assessment. A diagnosis of ASD was confirmed in eight of the 19 children. ASD prevalence, calculated from those 19 children and those with negative screening results (43 children), yielded a prevalence of 12.9% in the sample. The difference in frequency of positive screens between the tests was significant (P=0.011). In pair comparisons, ITSP was found to be significantly less positive than CSBS-DP-ITC (P=0.032). No significant differences were found between the M-CHAT and CSBS-DP-ITC or between the M-CHAT and ITSP.
Conclusion: The results strongly support the hypothesis of an increased prevalence of autism in children with a birth weight less than 1,500 g.
C1 [Dudova, Iva; Beranova, Stepanka; Hrdlicka, Michal] Charles Univ Prague, Fac Med 2, Dept Child Psychiat, Prague 15006, Czech Republic.
[Dudova, Iva; Kasparova, Martina; Beranova, Stepanka; Hrdlicka, Michal] Univ Hosp Motol, Prague, Czech Republic.
[Kasparova, Martina] Charles Univ Prague, Fac Med 2, Dept Pediat, Prague 15006, Czech Republic.
[Markova, Daniela] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague 15006, Czech Republic.
[Markova, Daniela] Gen Univ Hosp, Prague, Czech Republic.
[Zemankova, Jana] Charles Univ Prague, Fac Med, Dept Pediat, Kralove, Czech Republic.
[Zemankova, Jana] Univ Hosp, Kralove, Czech Republic.
[Urbanek, Tomas] Acad Sci Czech Republic, Inst Psychol, Brno, Czech Republic.
RP Dudova, I (reprint author), Charles Univ Prague, Univ Hosp Motol, Fac Med 2, Dept Child Psychiat, V Uvalu 84, Prague 15006, Czech Republic.
EM iva.dudova@lfmotol.cuni.cz
RI Urbanek, Tomas/G-9427-2014
OI Urbanek, Tomas/0000-0002-8807-4869
FU Ministry of Education, Youth and Sports, Czech Republic [COST LD11028];
Ministry of Health, Czech Republic (conceptual development of research
organization, University Hospital Motol, Prague, Czech Republic)
[00064203]; ESF (COST Action) [ESSEA BM1004]
FX This study was supported by the Ministry of Education, Youth and Sports,
Czech Republic (research grant COST LD11028), the Ministry of Health,
Czech Republic (conceptual development of research organization,
University Hospital Motol, Prague, Czech Republic 00064203), and by the
ESF (COST Action ESSEA BM1004). The authors would like to thank Thomas
Secrest for his assistance with the English version of the manuscript.
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NR 31
TC 1
Z9 1
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 277
EP 282
DI 10.2147/NDT.S57057
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AA4QC
UT WOS:000331079900001
PM 24627633
ER
PT J
AU Bersten, DC
Wright, JA
McCarthy, PJ
Whitelaw, ML
AF Bersten, David C.
Wright, Josephine A.
McCarthy, Peter J.
Whitelaw, Murray L.
TI Regulation of the neuronal transcription factor NPAS4 by REST and
microRNAs
SO BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
LA English
DT Article
DE Gene regulation; NPAS4; REST; microRNA; Transcription factor
ID RESTRICTIVE SILENCER ELEMENT; AUTISM SPECTRUM DISORDER; GABA(A) RECEPTOR
SUBUNIT; GENE-EXPRESSION; HEPATOCELLULAR-CARCINOMA; SYNAPSE DEVELOPMENT;
HUMAN GENOME; PROTEIN; CHROMATIN; PAS
AB NPAS4 is a brain restricted, activity-induced transcription factor which regulates the expression of inhibitory synapse genes to control homeostatic excitatory/inhibitory balance in neurons. NPAS4 is required for normal social interaction and contextual memory formation in mice. Protein and mRNA expression of NPAS4 is tightly coupled to neuronal depolarization and most prevalent in the cortical and hippocampal regions in the brain, however the precise mechanisms by which the NPAS4 gene is controlled remain unexplored. Here we show that expression of NPAS4 mRNA is actively repressed by RE-1 silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) in embryonic stem cells and non-neuronal cells by binding multiple sites within the promoter and Intron I of NPAS4. Repression by REST also appears to correlate with the binding of the zinc finger DNA binding protein CTCF within Intron I of NPAS4. In addition, we show that the 3' untranslated region (3' UTR) of NPAS4 can be targeted by two microRNAs, miR-203 and miR-224 to further regulate its expression. miR-224 is a midbrain/hypothalamus enriched microRNA which is expressed from an intron within the GABAA receptor epsilon (GABRE) gene and may further regionalize NPAS4 expression. Our results reveal REST and microRNA dependent mechanisms that restrict NPAS4 expression to the brain. Crown Copyright (C) 2013 Published by Elsevier B.V. All rights reserved.
C1 Univ Adelaide, Council Special Res, Ctr Mol Genet Dev, Sch Mol & Biomed Sci Biochem, Adelaide, SA 5005, Australia.
Univ Adelaide, Council Special Res, Ctr Mol Genet Dev, Australian Res, Adelaide, SA 5005, Australia.
RP Bersten, DC (reprint author), Univ Adelaide, Sch Mol & Biomed Sci Biochem, Adelaide, SA 5005, Australia.
EM david.bersten@adelaide.edu.au
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NR 61
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1874-9399
EI 0006-3002
J9 BBA-GENE REGUL MECH
JI Biochim. Biophys. Acta-Gene Regul. Mech.
PD JAN
PY 2014
VL 1839
IS 1
BP 13
EP 24
DI 10.1016/j.bbagrm.2013.11.004
PG 12
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA 303OH
UT WOS:000330683300002
PM 24291638
ER
PT J
AU Harony-Nicolas, H
Mamrut, S
Brodsky, L
Shahar-Gold, H
Barki-Harrington, L
Wagner, S
AF Harony-Nicolas, Hala
Mamrut, Shimrat
Brodsky, Leonid
Shahar-Gold, Hadar
Barki-Harrington, Liza
Wagner, Shlomo
TI Brain region-specific methylation in the promoter of the murine oxytocin
receptor gene is involved in its expression regulation
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin receptor; DNA methylation; Epigenetics; Bioinformatics;
Transcription regulation; Brain
ID AUTISM SPECTRUM DISORDERS; DNA METHYLATION; SOCIAL-ORGANIZATION; CENTRAL
VASOPRESSIN; POLYGAMOUS VOLES; DYNAMIC CHANGES; BINDING-SITES;
RAT-BRAIN; BEHAVIOR; MICE
AB Oxytocin is a nine amino acid neuropeptide that is known to play a critical role in fetal expulsion and breast-feeding, and has been recently implicated in mammalian social behavior. The actions of both central and peripheral oxytocin are mediated through the oxytocin receptor (Oxtr), which is encoded by a single gene. In contrast to the highly conserved expression of oxytocin in specific hypothalamic nuclei, the expression of its receptor in the brain is highly diverse among different mammalian species or even within individuals of the same species. The diversity in the pattern of brain Oxtr expression among mammals is thought to contribute to the broad range of social systems and organizations. Yet, the mechanisms underlying this diversity are poorly understood. DNA methylation is a major epigenetic mechanism that regulates gene transcription, and has been linked to reduced expression levels of the Oxtr in individuals with autism. Here we hypothesize that DNA methylation is involved in the expression regulation of Oxtr in the mouse brain. By combining bisulfite DNA conversion and Next-Generation Sequencing we found that specific CpG sites are differentially methylated between distinct brain regions expressing different levels of Oxtr mRNA. Some of these CpG sites are located within putative binding sites of transcription factors known to regulate Oxtr expression, including estrogen receptor a (ERa) and SP1. Specifically, methylation of the SP1 site was found to positively correlate with Oxtr expression. Furthermore, we revealed that the methylation levels of these sites in the various brain regions predict the relationship between ERce and Oxtr mRNA levels. Collectively, our results suggest that brain region-specific expression of the mouse Oxtr gene is epigenetically regulated by DNA methylation of its promoter. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Harony-Nicolas, Hala; Mamrut, Shimrat; Shahar-Gold, Hadar; Wagner, Shlomo] Univ Haifa, Fac Nat Sci, Dept Neurobiol, IL-31905 Haifa, Israel.
[Brodsky, Leonid] Univ Haifa, Fac Nat Sci, Tauber Bioinformat Res Ctr, IL-31905 Haifa, Israel.
[Brodsky, Leonid] Univ Haifa, Fac Nat Sci, Dept Evolutionary & Environm Biol, IL-31905 Haifa, Israel.
[Barki-Harrington, Liza] Univ Haifa, Fac Nat Sci, Dept Human Biol, IL-31905 Haifa, Israel.
RP Wagner, S (reprint author), Univ Haifa, Fac Nat Sci, Dept Neurobiol, IL-31905 Haifa, Israel.
EM shlomow@research.haifa.ac.il
FU Legacy Heritage Bio-Medical Program of the Israel Science Foundation
[1901/08]; Autism Speaks Foundation [3613]
FX This research was supported by the Legacy Heritage Bio-Medical Program
of the Israel Science Foundation (grant #1901/08 to SW and LBH) and by
the Autism Speaks Foundation (grant #3613 to SW).
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NR 48
TC 3
Z9 3
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 JAN
PY 2014
VL 39
BP 121
EP 131
DI 10.1016/j.psyneuen.2013.10.004
PG 11
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100013
PM 24275011
ER
PT J
AU Gould, GG
Burke, TF
Osorio, MD
Smolik, CM
Zhang, WQ
Onaivi, ES
Gu, TT
DeSilva, MN
Hensler, JG
AF Gould, Georgianna G.
Burke, Teresa F.
Osorio, Miguel D.
Smolik, Corey M.
Zhang, Wynne Q.
Onaivi, Emmanuel S.
Gu, Ting-Ting
DeSilva, Mauris N.
Hensler, Julie G.
TI Enhanced novelty-induced corticosterone spike and upregulated serotonin
5-HT1A and cannabinoid CB1 receptors in adolescent BTBR mice
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE 129S1/SvImJ; Adolescent; BTBR; C57BL; Cannabinoid; GTP gamma 5
autoradiography; Hippocampus; HPA feedback; Serotonin; Social behavior
ID CONTEXTUAL FEAR MEMORY; PLUS TF/J MOUSE; ENDOCANNABINOID SYSTEM; STRESS
REACTIVITY; SOCIAL-BEHAVIOR; IN-VIVO; AUTISM; GLUCOCORTICOIDS;
EXPRESSION; PHENOTYPES
AB Hypothalamic pituitary adrenal (HPA) axis responses to change and social challenges during adolescence can influence mental health and behavior into adulthood. To examine how HPA tone in adolescence may contribute to psychopathology, we challenged mate adolescent (5 weeks) and adult (16 weeks) BTBR rtf/J (BTBR) and 12951 /SvImJ (129S) mice with novelty in sociability tests. In prior studies these strains had exaggerated or altered HPA stress responses and low sociability relative to C57BL/6J mice in adulthood. In adolescence these strains already exhibited similar or worse sociability deficits than adults or age-matched C57 mice. Yet BTBR adolescents were less hyperactive and buried fewer marbles than adults. Novelty-induced corticosterone (CORT) spikes in adolescent BTBR were double adult levels, and higher than 129S or C57 mice at either age. Due to their established role in HPA feedback, we hypothesized that hippbcampal Gail o-coupled serotonin 5-HTiA and cannabioid CI31 receptor function might be upregulated in BTBR mice. Adolescent BTBR mice had higher hippocampal 5-HTIA density as measured by [H-3] 8hydroxy-2-(di-n-propylamino) tetralin (8-0H-DPAT) binding than C57 mice, and adult BTBR 8-0HDPAT-stimulated GTP-yS binding was higher than in either C57 or 1295 mice in this region. Further, BTBR hippocampal CB1 density measured by [H-3]CP55,940 binding was 15-20% higher than in C57. CP55, 940-stimulated GTP-yS binding in adult BTBR dentate gyrus was 30% higher then 129S (p < 0.05), but was not a product of greater neuronal or cell density defined by NeuN and DAPI staining. Hence hyperactive HPA responsiveness during adolescence may underlie 5-HT1A and CB1 receptor up-regulation and behavioral phenotype of BTBR mice. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Gould, Georgianna G.; Smolik, Corey M.; Zhang, Wynne Q.; Gu, Ting-Ting] Univ Texas Hlth Sci Ctr San Antonio, Dept Physiol, San Antonio, TX 78229 USA.
[Gould, Georgianna G.; Burke, Teresa F.; Smolik, Corey M.; Zhang, Wynne Q.; Gu, Ting-Ting; Hensler, Julie G.] Univ Texas Hlth Sci Ctr San Antonio, Ctr Biomed Neurosci, San Antonio, TX 78229 USA.
[Burke, Teresa F.; Hensler, Julie G.] Univ Texas Hlth Sci Ctr San Antonio, Dept Pharmacol, San Antonio, TX 78229 USA.
[Osorio, Miguel D.] Univ Texas Hlth Sci Ctr San Antonio, Sch Med, San Antonio, TX 78229 USA.
[Onaivi, Emmanuel S.] William Paterson Univ, Dept Biol, Wayne, NJ 07470 USA.
[DeSilva, Mauris N.] Univ Texas San Antonio, Dept Biomed Engn, San Antonio, TX 78249 USA.
RP Gould, GG (reprint author), Univ Texas Hlth Sci Ctr San Antonio, Dept Physiol, MS 7756, San Antonio, TX 78229 USA.
EM gouldg@uthscsa.edu
FU San Antonio Area Foundation; Morrison Trust; NIH [MH086708, MH52369,
MH071488, DA032890]; UTHSCSA R25 START UPs program [R25GM097632]; IIMS
CTSA grant [UL1RR025767]; William Paterson University
FX This research was supported by the San Antonio Area Foundation, the
Morrison Trust, NIH MH086708 (GGG), MH52369 (JGH) and MH071488 (JGH),
DA032890 (ESO), the UTHSCSA R25 START UPs program (R25GM097632) and IIMS
CTSA grant (UL1RR025767) and by funds from Dr. Sandra De Young, Dean of
Science and Health at William Paterson University. The authors thank Dr.
Lynette C. Daws, Department of Physiology, UTHSCSA for use of her
laboratory resources, the UT Medical School Summer Research Program,
Catherine Gonzalez of Health Careers High School, and Norman Schanz and
Dr. Robert Benno for their administrative and technical assistance.
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NR 51
TC 5
Z9 5
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 JAN
PY 2014
VL 39
BP 158
EP 169
DI 10.1016/j.psyneuen.2013.09.003
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100017
PM 24126181
ER
PT J
AU Rilling, JK
DeMarco, AC
Hackett, PD
Chen, X
Gautam, P
Stair, S
Haroon, E
Thompson, R
Ditzen, B
Patel, R
Pagnoni, G
AF Rilling, James K.
DeMarco, Ashley C.
Hackett, Patrick D.
Chen, Xu
Gautam, Pritam
Stair, Sabrina
Haroon, Ebrahim
Thompson, Richmond
Ditzen, Beate
Patel, Rajan
Pagnoni, Giuseppe
TI Sex differences in the neural and behavioral response to intranasal
oxytocin and vasopressin during human social interaction
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Oxytocin; Vasopressin; fMRI; Cooperation; Sex differences
ID AUTISM SPECTRUM DISORDERS; HUMAN BRAIN; MATERNAL-BEHAVIOR;
BINDING-SITES; COOPERATION; INCREASES; EVOLUTION; RAT; COMMUNICATION;
RECOGNITION
AB Both oxytocin (OT) and vasopressin (AVP) are known to modulate social behavior, and dysfunction in both systems has been postulated as a potential cause of certain psychiatric disorders that involve social behavioral deficits. In particular, there is growing interest in intranasal OT as a potential treatment for certain psychiatric disorders, and preliminary preclinical and clinical studies suggest efficacy in alleviating some of the associated symptoms. However, the vast majority of research participants in these studies have been male, and there is evidence for sexually differentiated effects of nonapeptides in both humans and non-human animals. To date, no study has investigated the effect of intranasal OT on brain function in human males and females within the same paradigm. Previously, in a randomized, placebo-controlled, double-blind fMRI study, we reported effects of intranasal OT and AVP on behavior and brain activity of human males as they played an interactive social game known as the Prisoner's Dilemma Game. Here, we present findings from an identical study in human females, and compare these with our findings from males. Overall, we find that both behavioral and neural responses to intranasal OT and AVP are highly sexually differentiated. In women; AVP increased conciliatory behavior, and both OT and AVP caused women to treat computer partners more like humans. In men, AVP increased reciprocation of cooperation from both human and computer partners. However, no specific drug effects on behavior were shared between men and women. During cooperative interactions, both OT and AVP increased brain activity in men within areas rich in OT and AVP receptors and in areas playing a key role in reward, social bonding, arousal and memory (e.g., the striatum, basal forebrain, insula, amygdala and hippocampus), whereas OT and AVP either had no effect or in some cases actually decreased brain activity in these regions in women. OT treatment rendered neural responses of males more similar to responses of females in the placebo group and vice versa, raising the prospect of an inverted u-shaped dose response to central OT levels. These findings emphasize the need to fully characterize the effects of intranasal OT and AVP in both males and females and at multiple doses before widespread clinical application will be warranted. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Rilling, James K.; Hackett, Patrick D.; Chen, Xu; Gautam, Pritam] Emory Univ, Dept Anthropol, Atlanta, GA 30322 USA.
[Rilling, James K.; Chen, Xu; Stair, Sabrina; Haroon, Ebrahim; Ditzen, Beate] Emory Univ, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA.
[Rilling, James K.; Ditzen, Beate] Emory Univ, Ctr Behav Neurosci, Atlanta, GA 30322 USA.
[Rilling, James K.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30322 USA.
[Rilling, James K.] Emory Univ, Ctr Translat Social Neurosci, Atlanta, GA 30322 USA.
[DeMarco, Ashley C.] Univ Kansas, Dept Psychol, Lawrence, KS 66045 USA.
[Thompson, Richmond] Bowdoin Coll, Dept Psychol, Brunswick, ME 04011 USA.
[Ditzen, Beate] Univ Zurich, Dept Psychol, CH-8006 Zurich, Switzerland.
[Patel, Rajan] Emory Univ, Dept Biostat, Atlanta, GA 30322 USA.
[Pagnoni, Giuseppe] Univ Modena & Reggio Emilia, Dept Neural Biomed & Metab Sci, Modena, Italy.
RP Rilling, JK (reprint author), Emory Univ, Dept Psychiat & Behav Sci, Dept Anthropol, 1557 Dickey Dr, Atlanta, GA 30322 USA.
EM jrillin@emory.edu
RI Chen, Xu/J-4650-2013; Pagnoni, Giuseppe/F-3398-2015
OI Pagnoni, Giuseppe/0000-0002-8272-8091
FU NIMH Grant [R01 MH084068-01A1]; PHS Grant from the Clinical and
Translational Science Award program [UL1 RR025008]; National Institutes
of Health; National Center for Research Resources; Yerkes National
Primate Research Center Base Grant [2P51RR000165-51]
FX Supported by NIMH Grant R01 MH084068-01A1 and PHS Grant UL1 RR025008
from the Clinical and Translational Science Award program, National
Institutes of Health, National Center for Research Resources. Assay
services were provided by the Biomarkers Core Laboratory at the Yerkes
National Primate Research Center. This facility is supported by the
Yerkes National Primate Research Center Base Grant 2P51RR000165-51.
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NR 53
TC 18
Z9 18
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 JAN
PY 2014
VL 39
BP 237
EP 248
DI 10.1016/j.psyneuen.2013.09.022
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100025
PM 24157401
ER
PT J
AU Chang, SC
Glymour, MM
Rewak, M
Cornelis, MC
Walter, S
Koenen, KC
Kawachi, I
Liang, LM
Tchetgen, EJT
Kubzansky, LD
AF Chang, Shun-Chiao
Glymour, M. Maria
Rewak, Marissa
Cornelis, Marilyn C.
Walter, Stefan
Koenen, Karestan C.
Kawachi, Ichiro
Liang, Liming
Tchetgen, Eric J. Tchetgen
Kubzansky, Laura D.
TI Are genetic variations in OXTR, AVPR1A, and CD38 genes important to
social integration? Results from two large US cohorts
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE OXTR; CD38; AVPR1A; Social integration; Sex-specific; Candidate gene
ID OXYTOCIN RECEPTOR GENE; AUTISM SPECTRUM DISORDER; POLYMORPHISM OXTR;
NURSES HEALTH; VASOPRESSIN; ASSOCIATION; MORTALITY; BEHAVIOR;
ATTACHMENT; SUPPORT
AB Some evidence suggests that genetic polymorphisms in oxytocin pathway genes influence various social behaviors, but findings thus far have been mixed. Many studies have been based in small samples and there is possibility of publication bias. Using data from 2 large U.S. prospective cohorts with over 11,000 individuals, we investigated 88 SNPs in OXTR, AVPR1A, and CD38, in relation to social integration (measured as social connectedness in both binary and continuous forms and being continuously married). After correction for multiple testing only one SNP in CD38 (rs12644506) was significantly associated with social integration and that SNP predicted when using a dichotomized indicator of social connectedness (adjusted p = 0.02), but not a continuous measure of social connectedness or the continuously married outcome. A significant gender-heterogeneous effect was identified in one OXTR SNP on dichotomized social connectedness; specifically, rs4686302 T allele was nominally associated with social connectedness in men, whereas the association direction was opposite in women (adjusted gender heterogeneity p = 0.02). Furthermore, the rs53576 A allele was significantly associated with social connectedness only in women, and the effect magnitude was stronger in a dominant genetic model (adjusted p = 0.003). In summary, our findings suggested that common genetic variants of OXTR, CD38, and AVPR1A are not associated with social integration as measured in this study using the simplified Berkman-Syme Social Network Index, but these findings and other work hint that effects may be modified by gender or other social experiences. Further work considering genetic pathways in relation to social integration may be more fruitful if these additional factors can be more comprehensively evaluated. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Chang, Shun-Chiao; Glymour, M. Maria; Rewak, Marissa; Walter, Stefan; Kawachi, Ichiro; Kubzansky, Laura D.] Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, Boston, MA 02115 USA.
[Glymour, M. Maria] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Cornelis, Marilyn C.] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.
[Koenen, Karestan C.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Liang, Liming; Tchetgen, Eric J. Tchetgen] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA.
RP Chang, SC (reprint author), Harvard Univ, Sch Publ Hlth, Dept Social & Behav Sci, 677 Huntington Ave, Boston, MA 02115 USA.
EM scchang@hsph.harvard.edu
FU NIH/NIMH [MH092707-01]
FX The study is supported by NIH/NIMH (MH092707-01). The sponsor has no
involvement in study design, data collection, analysis, interpretation
of data, writing of the report, and decision to submit the paper for
submission.
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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 JAN
PY 2014
VL 39
BP 257
EP 268
DI 10.1016/j.psyneuen.2013.09.024
PG 12
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AA0WM
UT WOS:000330818100027
PM 24209975
ER
PT J
AU Catala-Lopez, F
Suarez-Pinilla, M
Suarez-Pinilla, P
Valderas, JM
Gomez-Beneyto, M
Martinez, S
Balanza-Martinez, V
Climent, J
Valencia, A
McGrath, J
Crespo-Facorro, B
Sanchez-Moreno, J
Vieta, E
Tabares-Seisdedos, R
AF Catala-Lopez, Ferran
Suarez-Pinilla, Marta
Suarez-Pinilla, Paula
Valderas, Jose Maria
Gomez-Beneyto, Manuel
Martinez, Salvador
Balanza-Martinez, Vicent
Climent, Joan
Valencia, Alfonso
McGrath, John
Crespo-Facorro, Benedicto
Sanchez-Moreno, Jose
Vieta, Eduard
Tabares-Seisdedos, Rafael
TI Inverse and Direct Cancer Comorbidity in People with Central Nervous
System Disorders: A Meta-Analysis of Cancer Incidence in 577,013
Participants of 50 Observational Studies
SO PSYCHOTHERAPY AND PSYCHOSOMATICS
LA English
DT Article
DE Comorbidity; Multimorbidity; Cancer; Central nervous system disorders;
Alzheimer's disease; Amyotrophic lateral sclerosis; Autism spectrum
disorders; Down's syndrome; Huntington's disease; Multiple sclerosis;
Parkinson's disease; Schizophrenia
ID POPULATION-BASED COHORT; SERIOUS MENTAL-ILLNESS; PARKINSONS-DISEASE;
MULTIPLE-SCLEROSIS; DOWNS-SYNDROME; RECORD LINKAGE; BREAST-CANCER;
GLOBAL BURDEN; SCHIZOPHRENIC-PATIENTS; 1ST-DEGREE RELATIVES
AB Background: There is a lack of scientific consensus about cancer comorbidity in people with central nervous system (CNS) disorders. This study assesses the co-occurrence of cancers in patients with CNS disorders, including Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), autism spectrum disorders, Down's syndrome (DS), Huntington's disease (HD), multiple sclerosis (MS), Parkinson's disease (PD) and schizophrenia (SCZ). Method: Comprehensive search in PubMed/MEDLINE, Scopus and ISI Web of Knowledge of the literature published before March 2013. We identified 51 relevant articles from 2,229 discrete references, 50 of which contained data suitable for quantitative synthesis (577,013 participants). Pooled effect sizes (ES) were calculated using multiple random-effects meta-analyses. Sources of heterogeneity and uncertainty were explored by means of subgroup and sensitivity analyses, respectively. Results: The presence of CNS disorders was associated with a reduced co-occurrence of cancer (ES = 0.92; 95% confidence interval, CI: 0.87-0.98; I-2 = 94.5%). A consistently lower overall co-occurrence of cancer was detected in patients with neurodegenerative disorders (ES = 0.80; 95% CI: 0.75-0.86; I-2 = 82.8%), and in those with AD (ES = 0.32; 95% CI: 0.22-0.46; I-2 = 0.0%), PD (ES = 0.83; 95% CI: 0.76-0.91; I-2 = 80.0%), MS (ES = 0.91; 95% CI: 0.87-0.95; I-2 = 30.3%) and HD (ES = 0.53; 95% CI: 0.42-0.67; I-2 = 56.4%). Patients with DS had a higher overall co-occurrence of cancer (ES = 1.46; 95% CI: 1.08-1.96; I-2 = 87.9%). No association was observed between cancer and ALS (ES = 0.97; 95% CI: 0.76-1.25; I-2 = 0.0%) or SCZ (ES = 0.98; 95% CI: 0.90-1.07; I-2 = 96.3%). Patients with PD, MS and SCZ showed (a) higher co-occurrence of some specific cancers (e. g. PD with melanoma, MS with brain cancers and SCZ with breast cancer), and (b) lower co-occurrence of other specific cancers (e. g. lung, prostate and colorectal cancers in PD; lung and prostate cancers in MS; and melanoma and prostate cancer in SCZ). Conclusion: Increased and decreased co-occurrence of cancer in patients with CNS disorders represents an opportunity to discover biological and non-biological connections between these complex disorders. (C) 2014 S. Karger AG, Basel
C1 [Catala-Lopez, Ferran] Spanish Med & Healthcare Prod Agcy, Div Pharmacoepidemiol & Pharmacovigilance, Madrid, Spain.
[Suarez-Pinilla, Paula; Gomez-Beneyto, Manuel; Balanza-Martinez, Vicent; Crespo-Facorro, Benedicto; Sanchez-Moreno, Jose; Vieta, Eduard; Tabares-Seisdedos, Rafael] Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain.
[Valencia, Alfonso] Spanish Natl Canc Res Ctr CNIO, Madrid, Spain.
[Catala-Lopez, Ferran] Univ Valencia, Fdn Inst Invest Serv Salud, ES-46010 Valencia, Spain.
[Gomez-Beneyto, Manuel; Balanza-Martinez, Vicent; Tabares-Seisdedos, Rafael] Univ Valencia, Teaching Unit Psychiat & Psychol Med, Dept Med, ES-46010 Valencia, Spain.
[Climent, Joan; Tabares-Seisdedos, Rafael] Inst Invest Sanitaria Valencia NCLIVA, Valencia, Spain.
[Suarez-Pinilla, Marta] Univ Oviedo, Hosp Cent Asturias, Dept Neurol, E-33080 Oviedo, Spain.
[Suarez-Pinilla, Paula; Crespo-Facorro, Benedicto] Univ Cantabria, Sch Med, Dept Psychiat, Univ Hosp Marques Valdecilla,IFIMAV, E-39005 Santander, Spain.
[Martinez, Salvador] Univ Miguel Hernandez, CSIC, Inst Neurociencias Alicante, Alacant, Spain.
[Sanchez-Moreno, Jose; Vieta, Eduard] Univ Barcelon, IDIBAPS, Hosp Clin, Barcelona, Spain.
[Valderas, Jose Maria] Univ Oxford, Dept Primary Care Hlth Sci, Hlth Serv & Policy Res Grp, NIHR Sch Primary Care Res, Oxford, England.
[McGrath, John] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia.
RP Tabares-Seisdedos, R (reprint author), Univ Valencia, Dept Med, CIBERSAM, INCLIVA, Blasco Ibanez 15, ES-46010 Valencia, Spain.
EM Rafael.Tabares@uv.es
RI Valderas, Jose/G-7967-2014
OI Valderas, Jose/0000-0002-9299-1555
FU Spanish Ministry of Economy and Competitiveness; Institute of Health
Carlos III; CIBERSAM; INCLIVA; Generalitat Valenciana [PROMETEO
11/2011/042]
FX This article was supported in part by grants received by R.T.-S. from
the Spanish Ministry of Economy and Competitiveness, Institute of Health
Carlos III, CIBERSAM, INCLIVA, Generalitat Valenciana (PROMETEO
11/2011/042).
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ZISFEIN J, 1988, MT SINAI J MED, V55, P159
NR 83
TC 10
Z9 10
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0033-3190
EI 1423-0348
J9 PSYCHOTHER PSYCHOSOM
JI Psychother. Psychosom.
PY 2014
VL 83
IS 2
BP 89
EP 105
DI 10.1159/000356498
PG 17
WC Psychiatry; Psychology
SC Psychiatry; Psychology
GA 302WH
UT WOS:000330635300003
PM 24458030
ER
PT J
AU Poustka, L
Brandeis, D
Hohmann, S
Holtmann, M
Bolte, S
Banaschewski, T
AF Poustka, Luise
Brandeis, Daniel
Hohmann, Sarah
Holtmann, Martin
Bolte, Sven
Banaschewski, Tobias
TI Neurobiologically based interventions for autism spectrum
disorders-rationale and new directions
SO RESTORATIVE NEUROLOGY AND NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; intervention; novel treatments; neurofeedback;
neural plasticity
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; REAL-TIME
FMRI; COMPUTER-ASSISTED-INSTRUCTION; MIRROR NEURON DYSFUNCTION; IMPAIRED
MEMORY FUNCTIONS; FUSIFORM FACE AREA; ASPERGER-SYNDROME; WHITE-MATTER;
EXECUTIVE FUNCTION
AB Autism spectrum disorders (ASD) are heterogeneous, neurodevelopmental disorders with early onset, characterized by a triad of impairments in reciprocal interaction and communication as well as repetitive and restricted interests and activities. Though underlying causes still remain largely unknown, there is now evidence for abnormal growth trajectories in the early brain development in ASD during vulnerable periods and subsequent impairment of neuronal organization and differentiation of neuronal networks. A growing number of studies over the last 10 years support the efficacy of behaviorally based interventions in ASD for the improvement of social communication and behavioral functioning. In contrast, research on neurobiologically based therapies for ASD is still at its beginnings. In this article, we will provide a selective overview of novel interventions and trainings based on neurobiological principles. Directions and options for future research on treatment aiming at restoration of normal plasticity in disrupted brain circuits in ASD are discussed.
C1 [Poustka, Luise; Brandeis, Daniel; Hohmann, Sarah; Holtmann, Martin; Bolte, Sven; Banaschewski, Tobias] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Dept Child & Adolescent Psychiat & Psychotherapy, Mannheim, Germany.
[Brandeis, Daniel] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Brandeis, Daniel] Univ Zurich, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland.
[Bolte, Sven] Ruhr Univ Bochum, LWL Univ Hosp Child & Adolescent Psychiat Psychot, Hamm, Germany.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Stockholm, Sweden.
RP Poustka, L (reprint author), Cent Inst Mental Hlth, Dept Child & Adolescent Psychiat & Psychotherapy, J 5, D-68159 Mannheim, Germany.
EM luise.poustka@zi-mannheim.de
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NR 165
TC 1
Z9 1
PU IOS PRESS
PI AMSTERDAM
PA NIEUWE HEMWEG 6B, 1013 BG AMSTERDAM, NETHERLANDS
SN 0922-6028
EI 1878-3627
J9 RESTOR NEUROL NEUROS
JI Restor. Neurol. Neurosci.
PY 2014
VL 32
IS 1
BP 197
EP 212
DI 10.3233/RNN-139010
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA 302FQ
UT WOS:000330588100015
PM 23603445
ER
PT J
AU Grabrucker, S
Jannetti, L
Eckert, M
Gaub, S
Chhabra, R
Pfaender, S
Mangus, K
Reddy, PP
Rankovic, V
Schmeisser, MJ
Kreutz, MR
Ehret, G
Boeckers, TM
Grabrucker, AM
AF Grabrucker, Stefanie
Jannetti, Linda
Eckert, Matti
Gaub, Simone
Chhabra, Resham
Pfaender, Stefanie
Mangus, Katharina
Reddy, Parameshwar Pasham
Rankovic, Vladan
Schmeisser, Michael J.
Kreutz, Michael R.
Ehret, Guenter
Boeckers, Tobias M.
Grabrucker, Andreas M.
TI Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and
might contribute to autism spectrum disorders
SO BRAIN
LA English
DT Article
DE PSD; ASD; Shank3; synapse; Zn2+
ID 22Q13 DELETION SYNDROME; TRACE-ELEMENTS COPPER; NITRIC-OXIDE;
POSTSYNAPTIC DENSITY; METALLOTHIONEIN-III; INTRACELLULAR ZINC; SHANK3;
MICE; GENE; BRAIN
AB Proteins of the ProSAP/Shank family act as major organizing scaffolding elements within the postsynaptic density of excitatory synapses. Deletions, mutations or the downregulation of these molecules has been linked to autism spectrum disorders, the related Phelan McDermid Syndrome or Alzheimer's disease. ProSAP/Shank proteins are targeted to synapses depending on binding to zinc, which is a prerequisite for the assembly of the ProSAP/Shank scaffold. To gain insight into whether the previously reported assembly of ProSAP/Shank through zinc ions provides a crossing point between genetic forms of autism spectrum disorder and zinc deficiency as an environmental risk factor for autism spectrum disorder, we examined the interplay between zinc and ProSAP/Shank in vitro and in vivo using neurobiological approaches. Our data show that low postsynaptic zinc availability affects the activity dependent increase in ProSAP1/Shank2 and ProSAP2/Shank3 levels at the synapse in vitro and that a loss of synaptic ProSAP1/Shank2 and ProSAP2/Shank3 occurs in a mouse model for acute and prenatal zinc deficiency. Zinc-deficient animals displayed abnormalities in behaviour such as over-responsivity and hyperactivity-like behaviour (acute zinc deficiency) and autism spectrum disorder-related behaviour such as impairments in vocalization and social behaviour (prenatal zinc deficiency). Most importantly, a low zinc status seems to be associated with an increased incidence rate of seizures, hypotonia, and attention and hyperactivity issues in patients with Phelan-McDermid syndrome, which is caused by haploinsufficiency of ProSAP2/Shank3. We suggest that the molecular underpinning of prenatal zinc deficiency as a risk factor for autism spectrum disorder may unfold through the deregulation of zinc-binding ProSAP/Shank family members.
C1 [Grabrucker, Stefanie; Jannetti, Linda; Eckert, Matti; Chhabra, Resham; Mangus, Katharina; Grabrucker, Andreas M.] Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Neuroctr, D-89081 Ulm, Germany.
[Grabrucker, Stefanie; Gaub, Simone; Ehret, Guenter] Univ Ulm, Inst Neurobiol, D-89081 Ulm, Germany.
[Pfaender, Stefanie; Schmeisser, Michael J.; Boeckers, Tobias M.; Grabrucker, Andreas M.] Univ Ulm, Inst Anat & Cell Biol, D-89081 Ulm, Germany.
[Reddy, Parameshwar Pasham; Rankovic, Vladan; Kreutz, Michael R.] Leibniz Inst Neurobiol, RG Neuroplast, Magdeburg, Germany.
RP Grabrucker, AM (reprint author), Univ Ulm, Dept Neurol, WG Mol Anal Synaptopathies, Albert Einstein Allee 11, D-89081 Ulm, Germany.
EM andreas.grabrucker@uni-ulm.de
FU Baustein 3.2 [L.SBN.0083]; DAAD; ANR [ANR-08-MNPS-037-01 - SynGen];
Neuron-ERANET (EUHF-AUTISM); Fondation Orange; Fondation FondaMentale
FX This work was supported by Baustein 3.2 (L.SBN.0083) and the DAAD (to A.
M. G). T. B. was funded by the ANR (ANR-08-MNPS-037-01 - SynGen),
Neuron-ERANET (EUHF-AUTISM), Fondation Orange and the Fondation
FondaMentale. M. R. K by the DFG (SFB 779/TPB8; Kr1879/3-1). S. G. is a
member of the International Graduate School in Molecular Medicine at Ulm
University.
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NR 61
TC 12
Z9 12
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD JAN
PY 2014
VL 137
BP 137
EP 152
DI 10.1093/brain/awt303
PN 1
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 299ZK
UT WOS:000330434000015
PM 24277719
ER
PT J
AU Eilam-Stock, T
Xu, PF
Cao, M
Gu, XS
Van Dam, NT
Anagnostou, E
Kolevzon, A
Soorya, L
Park, Y
Siller, M
He, Y
Hof, PR
Fan, J
AF Eilam-Stock, Tehila
Xu, Pengfei
Cao, Miao
Gu, Xiaosi
Van Dam, Nicholas T.
Anagnostou, Evdokia
Kolevzon, Alexander
Soorya, Latha
Park, Yunsoo
Siller, Michael
He, Yong
Hof, Patrick R.
Fan, Jin
TI Abnormal autonomic and associated brain activities during rest in autism
spectrum disorder
SO BRAIN
LA English
DT Article
DE autism; autonomic nervous system; emotion; skin conductance; resting
state
ID SKIN-CONDUCTANCE RESPONSES; STATE FUNCTIONAL CONNECTIVITY; ANTERIOR
INSULAR CORTEX; DEFAULT-MODE NETWORK; NERVOUS-SYSTEM ACTIVITY;
HEART-RATE FEEDBACK; PHYSIOLOGICAL CONDITION; EMOTIONAL AWARENESS;
MAGNETIC-RESONANCE; SELF-REFLECTION
AB Autism spectrum disorders are associated with social and emotional deficits, the aetiology of which are not well understood. A growing consensus is that the autonomic nervous system serves a key role in emotional processes, by providing physiological signals essential to subjective states. We hypothesized that altered autonomic processing is related to the socio-emotional deficits in autism spectrum disorders. Here, we investigated the relationship between non-specific skin conductance response, an objective index of sympathetic neural activity, and brain fluctuations during rest in high-functioning adults with autism spectrum disorder relative to neurotypical controls. Compared with control participants, individuals with autism spectrum disorder showed less skin conductance responses overall. They also showed weaker correlations between skin conductance responses and frontal brain regions, including the anterior cingulate and anterior insular cortices. Additionally, skin conductance responses were found to have less contribution to default mode network connectivity in individuals with autism spectrum disorders relative to controls. These results suggest that autonomic processing is altered in autism spectrum disorders, which may be related to the abnormal socio-emotional behaviours that characterize this condition.
C1 [Eilam-Stock, Tehila; Van Dam, Nicholas T.; Fan, Jin] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
[Eilam-Stock, Tehila; Fan, Jin] CUNY, Grad Ctr, New York, NY 10016 USA.
[Eilam-Stock, Tehila; Van Dam, Nicholas T.; Anagnostou, Evdokia; Kolevzon, Alexander; Soorya, Latha; Park, Yunsoo; Fan, Jin] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Xu, Pengfei; Cao, Miao; He, Yong] Beijing Normal Univ, State Key Lab Cognit Neurosci, McGovern Inst Brain Res, Beijing 100875, Peoples R China.
[Xu, Pengfei; Cao, Miao; He, Yong] Beijing Normal Univ, Learning & Int Data Grp, McGovern Inst Brain Res, Beijing 100875, Peoples R China.
[Gu, Xiaosi] UCL, Wellcome Trust Ctr Neuroimaging, London WC1N 3BG, England.
[Gu, Xiaosi] Virginia Tech, Caril Res Inst, Roanoke, VA 24016 USA.
[Anagnostou, Evdokia; Kolevzon, Alexander; Soorya, Latha; Fan, Jin] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Siller, Michael] CUNY Hunter Coll, Dept Psychol, New York, NY 10065 USA.
[Hof, Patrick R.; Fan, Jin] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA.
[Hof, Patrick R.; Fan, Jin] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
RP Fan, J (reprint author), CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
EM jin.fan@qc.cuny.edu
RI Fan, Jin/A-6716-2009
OI Fan, Jin/0000-0001-9630-8330
FU National Institute of Health (NIH) [R21 MH083164]; Queens College, City
University of New York; National Center for Research Resources (NCRR)
[UL1 RR029887]; James S. McDonnell Foundation [22002078]; National
Natural Science Foundation [81030028]; National Science Fund for
Distinguished Young Scholars of China [81225012]; Beatrice and Samuel A.
Seaver Foundation
FX This research was supported by the National Institute of Health (NIH)
Grant R21 MH083164 and two Research Enhancement Awards from Queens
College, City University of New York, to J.F., along with the National
Center for Research Resources (NCRR) Grant UL1 RR029887, and a James S.
McDonnell Foundation grant (22002078, to P. R. H.). Two additional
grants, from the National Natural Science Foundation (Grant No.
81030028) and the National Science Fund for Distinguished Young Scholars
(Grant No. 81225012) of China to Y.H., helped in supporting this study.
The contents are the sole responsibility of the authors and do not
necessarily represent the official views of the aforementioned funding
agencies. We would like to acknowledge the Beatrice and Samuel A. Seaver
Foundation for their support. The authors report no biomedical financial
interests or potential conflicts of interest.
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NR 103
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0006-8950
EI 1460-2156
J9 BRAIN
JI Brain
PD JAN
PY 2014
VL 137
BP 153
EP 171
DI 10.1093/brain/awt294
PN 1
PG 19
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 299ZK
UT WOS:000330434000016
PM 24424916
ER
PT J
AU Nam, S
Chun, J
AF Nam, SungHee
Chun, JongSerl
TI Influencing factors on mothers' parenting style of young children at
risk for developmental delay in South Korea: The mediating effects of
parenting stress
SO CHILDREN AND YOUTH SERVICES REVIEW
LA English
DT Article
DE Parenting style; Children with or at risk of developmental delay;
Parenting stress
ID AUTISM SPECTRUM DISORDERS; MATERNAL SELF-EFFICACY; EARLY INTERVENTION;
INTENTIONAL COMMUNICATION; FAMILY INTERACTIONS; BEHAVIOR PROBLEMS; EARLY
EXPERIENCE; EARLY-CHILDHOOD; RESPONSIVENESS; INFANTS
AB Parenting style is regarded as one of the most significant factors for children's development, especially for children with or at risk of developmental delay. Due to the importance of parenting style, this study explored factors that affect the parenting style in families with children at risk for or with developmental delay in South Korea. Guided by the Transactional model of Development and the Belsky's Model of Parenting, this study specifically addressed the influence that parent, child, and social context characteristics have on parenting style. This study is a secondary data analysis of 470 mothers who participated in the second wave of the Panel Study on Korean Children conducted in 2009. The results showed that mother's employment, mother's age, parenting stress, and social support were significantly related to mother's parenting style. There were two major implications. First, early intervention programs need to provide services to both parents and children in order to improve children's outcomes. Second, mothers of children at risk of developmental delay need to be encouraged to participate as active agents in their children's development. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Nam, SungHee; Chun, JongSerl] Ewha Womans Univ, Dept Social Welf, Seoul 120750, South Korea.
RP Nam, S (reprint author), Ewha Womans Univ, Dept Social Welf, 11-1 Daehyun Dong, Seoul 120750, South Korea.
EM ebbunsh@gmail.com; jschun@ewha.ac.kr
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NR 100
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0190-7409
EI 1873-7765
J9 CHILD YOUTH SERV REV
JI Child. Youth Serv. Rev.
PD JAN
PY 2014
VL 36
BP 81
EP 89
DI 10.1016/j.childyouth.2013.11.008
PG 9
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 297NF
UT WOS:000330261500010
ER
PT J
AU Cortelazzo, A
De Felice, C
Guerranti, R
Signorini, C
Leoncini, S
Pecorelli, A
Zollo, G
Landi, C
Valacchi, G
Ciccoli, L
Bini, L
Hayek, J
AF Cortelazzo, Alessio
De Felice, Claudio
Guerranti, Roberto
Signorini, Cinzia
Leoncini, Silvia
Pecorelli, Alessandra
Zollo, Gloria
Landi, Claudia
Valacchi, Giuseppe
Ciccoli, Lucia
Bini, Luca
Hayek, Joussef
TI Subclinical Inflammatory Status in Rett Syndrome
SO MEDIATORS OF INFLAMMATION
LA English
DT Article
ID ERYTHROCYTE SEDIMENTATION-RATE; AUTISM SPECTRUM DISORDERS; OXIDATIVE
STRESS; BRAIN INFLAMMATION; PLASMA-PROTEIN; BINDING; MECP2; SERUM;
IDENTIFICATION; DYSFUNCTION
AB Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., "pseudo-autistic") RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P < 0.0001) were detectable in RTT, whereas C-reactive protein levels were unchanged (P = 0.63). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n = 6 spots) or negative (n = 9 spots), and to a lesser extent as proteins involved in the immune system (n = 2 spots), with some proteins having overlapping functions on metabolism (n = 7 spots). The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the "pseudo-autistic" phase of RTT, which is related to the severity carried by the MECP2 gene mutation.
C1 [Cortelazzo, Alessio; Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Hayek, Joussef] Univ Hosp Azienda Ospedaliera Univ Senese AOUS, Child Neuropsychiat Unit, I-53100 Siena, Italy.
[Cortelazzo, Alessio; Guerranti, Roberto] Univ Siena, Dept Med Biotechnol, I-53100 Siena, Italy.
[De Felice, Claudio] Univ Hosp AOUS, Neonatal Intens Care Unit, I-53100 Siena, Italy.
[Signorini, Cinzia; Leoncini, Silvia; Pecorelli, Alessandra; Zollo, Gloria; Ciccoli, Lucia] Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy.
[Landi, Claudia; Bini, Luca] Univ Siena, Dept Life Sci, I-53100 Siena, Italy.
[Valacchi, Giuseppe] Univ Ferrara, Dept Life Sci & Biotechnol, I-44100 Ferrara, Italy.
[Valacchi, Giuseppe] Kyung Hee Univ, Dept Food & Nutr, Seoul 130701, South Korea.
RP Cortelazzo, A (reprint author), Univ Hosp Azienda Ospedaliera Univ Senese AOUS, Child Neuropsychiat Unit, Viale M Bracci 16, I-53100 Siena, Italy.
EM corteale@gmail.com
FU Tuscany Region, Italy; Associazione Italiana Rett; Kiwanis Club and
Round Table 41 Club of Siena; Nencioni family from Fiesole and Florence;
Tanturli family from Fiesole and Florence
FX The present research project has been funded by the Tuscany Region
(Bando Salute 2009, "Antioxidants (omega-3 polyunsaturated fatty acids,
lipoic acid) supplementation in Rett syndrome: a novel approach to
therapy"), Italy. Furthermore the authors are grateful for support from
Associazione Italiana Rett, (A.I.R., President Mrs. Lucia Dovigo), the
Kiwanis Club and Round Table 41 Club of Siena, and the Nencioni and
Tanturli families from Fiesole and Florence. The authors acknowledge the
Medical Genetic Unit of the Siena University (Head: Professor Alessandra
Renieri) for gene mutations analysis. They sincerely thank Drs.
Pierluigi Tosi, Silvia Briani, and Roberta Croci from the Administrative
Direction of the Azienda Ospedaliera Senese for continued support to our
studies and the Azienda Ospedaliera Senese for prior purchasing of the
gas spectrometry instrumentation; Roberto Faleri from the Medical
Central Library (for online bibliographic research assistance). We are
very grateful to Maestro Roberto Innocenti (2008 winner of the IBBY Hans
Christian Andersen award as best illustrator) for kindly endorsing the
illustrations of a book in progress dedicated to the Rett syndrome girls
and families. They heartily thank the professional singer Matteo Setti
(http://www.matteosetti.com/) for having serendipitously triggered the
scientific studies on hypoxia-related oxidative stress in Rett girls and
autistic children, as well as his many charity concerts and continued
interest in the scientific aspects of our research. Finally, they
sincerely thank the Rett girls and their families.
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NR 76
TC 0
Z9 0
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 0962-9351
EI 1466-1861
J9 MEDIAT INFLAMM
JI Mediat. Inflamm.
PY 2014
AR 480980
DI 10.1155/2014/480980
PG 13
WC Cell Biology; Immunology
SC Cell Biology; Immunology
GA 301CO
UT WOS:000330510500001
ER
PT J
AU Stockler-Ipsiroglu, S
van Karnebeek, C
Longo, N
Korenke, GC
Mercimek-Mahmutoglu, S
Marquart, I
Barshop, B
Grolik, C
Schlune, A
Angle, B
Araujo, HC
Coskun, T
Diogo, L
Geraghty, M
Haliloglu, G
Konstantopoulou, V
Leuzzi, V
Levtova, A
MacKenzie, J
Maranda, B
Mhanni, AA
Mitchell, G
Morris, A
Newlove, T
Renaud, D
Scaglia, F
Valayannopoulos, V
van Spronsen, FJ
Verbruggen, KT
Yuskiv, N
Nyhan, W
Schulze, A
AF Stockler-Ipsiroglu, Sylvia
van Karnebeek, Clara
Longo, Nicola
Korenke, G. Christoph
Mercimek-Mahmutoglu, Saadet
Marquart, Iris
Barshop, Bruce
Grolik, Christiane
Schlune, Andrea
Angle, Brad
Araujo, Helena Caldeira
Coskun, Turgay
Diogo, Luisa
Geraghty, Michael
Haliloglu, Goknur
Konstantopoulou, Vassiliki
Leuzzi, Vincenzo
Levtova, Alina
MacKenzie, Jennifer
Maranda, Bruno
Mhanni, Aizeddin A.
Mitchell, Grant
Morris, Andrew
Newlove, Theresa
Renaud, Deborah
Scaglia, Fernando
Valayannopoulos, Vassili
van Spronsen, Francjan J.
Verbruggen, Krijn T.
Yuskiv, Nataliya
Nyhan, William
Schulze, Andreas
TI Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48
individuals and recommendations for diagnosis, treatment and monitoring
SO MOLECULAR GENETICS AND METABOLISM
LA English
DT Article
DE Creatine deficiency; Magnetic resonance spectroscopy; Speech delay;
Autism; Treatment evidence; Neurodevelopmental outcome
ID GLOBAL DEVELOPMENTAL DELAY; ARGININE RESTRICTION; CREATINE DEFICIENCY;
INBORN ERROR; PRESYMPTOMATIC TREATMENT; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; BRAIN; METABOLISM; ORNITHINE
AB We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, L-ornithine, sodium benzoate and protein/arginine restricted diets. The median age at treatment initiation was 25.5 and 39 months in patients with mild and moderate DD/ID, respectively, and 11 years in patients with severe DD/ID. Increase of cerebral creatine and decrease of plasma/CSF guanidinoacetate levels were achieved by supplementation with creatine-monohydrate combined with high dosages of t-ornithine and/or an arginine-restricted diet (250 mg/kg/d L-arginine). Therapy was associated with improvement or stabilization of symptoms in all of the symptomatic cases. The 4 patients treated younger than 9 months had normal or almost normal developmental outcomes. One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.
C1 [Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Newlove, Theresa; Yuskiv, Nataliya] Univ British Columbia, Dept Pediat, Vancouver, BC V6H 3V4, Canada.
[van Karnebeek, Clara] Univ British Columbia, Ctr Mol Med & Therapeut, Vancouver, BC V6H 3V4, Canada.
[Longo, Nicola] Univ Utah, Div Med Genet, Salt Lake City, UT USA.
[Korenke, G. Christoph; Marquart, Iris] Childrens Hosp Oldenburg, Dept Pediat Neurol, Oldenburg, Germany.
[Mercimek-Mahmutoglu, Saadet; Schulze, Andreas] Univ Toronto, Hosp Sick Children, Dept Pediat, Toronto, ON M5S 1A1, Canada.
[Barshop, Bruce; Nyhan, William] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA.
[Grolik, Christiane] Childrens Hosp Cologne, Dept Pediat Neurol, Cologne, Germany.
[Schlune, Andrea] Univ Dusseldorf, Univ Childrens Hosp, Fac Med, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany.
[Angle, Brad] Childrens Mem Hosp, Div Birth Defects & Metab, Chicago, IL 60614 USA.
[Araujo, Helena Caldeira] Univ Madeira, Unit Med Sci, Funchal, Madeira, Portugal.
[Coskun, Turgay; Haliloglu, Goknur] Hacettepe Univ, Dept Pediat, Ankara, Turkey.
[Diogo, Luisa] Pediat Hosp CHUC EPE, Coimbra, Portugal.
[Geraghty, Michael] Univ Ottawa, Dept Pediat, CHEO, Ottawa, ON K1N 6N5, Canada.
[Konstantopoulou, Vassiliki] Med Univ Vienna, Dept Pediat, Vienna, Austria.
[Leuzzi, Vincenzo] Univ Roma La Sapienza, Dept Pediat Child Neurol & Psychiat, I-00185 Rome, Italy.
[Levtova, Alina; Mitchell, Grant] St Justine Univ Hosp Ctr, Dept Pediat, Montreal, PQ, Canada.
[MacKenzie, Jennifer] Queens Univ, Dept Pediat, Kingston, ON K7L 3N6, Canada.
[Maranda, Bruno] Univ Sherbrooke, Div Genet, Sherbrooke, PQ J1K 2R1, Canada.
[Mhanni, Aizeddin A.] Univ Mannitoba, Dept Pediat & Child Hlth, Winnipeg, MB, Canada.
[Mitchell, Grant] St Justine Univ Res Ctr, Montreal, PQ, Canada.
[Morris, Andrew] Manchester Acad Hlth Sci Ctr, Dept Med Genet, Manchester, Lancs, England.
[Renaud, Deborah] Mayo Clin, Dept Neurol, Rochester, MN USA.
[Scaglia, Fernando] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Valayannopoulos, Vassili] Hop Necker Enfants Malad, Reference Ctr Inborn Errors Metab, Paris, France.
[van Spronsen, Francjan J.; Verbruggen, Krijn T.] Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, NL-9700 AB Groningen, Netherlands.
[Schulze, Andreas] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada.
RP Stockler-Ipsiroglu, S (reprint author), Univ British Columbia, British Columbia Childrens Hosp, Dept Pediat, Div Biochem Dis, K3-204-4480 Oak St, Vancouver, BC V6H 3V4, Canada.
EM sstockler@cw.bc.ca
FU BC-Children's Hospital Foundation
FX Funding for this project was obtained from TIDE BC (www.tidebc.org) a
BC-Children's Hospital Foundation funded Collaborative Area of
Innovation.
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NR 36
TC 7
Z9 7
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1096-7192
EI 1096-7206
J9 MOL GENET METAB
JI Mol. Genet. Metab.
PD JAN
PY 2014
VL 111
IS 1
BP 16
EP 25
DI 10.1016/j.ymgme.2013.10.018
PG 10
WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine,
Research & Experimental
SC Biochemistry & Molecular Biology; Genetics & Heredity; Research &
Experimental Medicine
GA 296AS
UT WOS:000330158100003
PM 24268530
ER
PT J
AU Scumpia, PO
Kelly-Scumpia, K
Stevens, BR
AF Scumpia, Philip O.
Kelly-Scumpia, Kindra
Stevens, Bruce R.
TI Alpha-lipoic acid effects on brain glial functions accompanying
double-stranded RNA antiviral and inflammatory signaling
SO NEUROCHEMISTRY INTERNATIONAL
LA English
DT Article
DE Lipoic acid; Double-stranded RNA; TLR3 (Toll-like receptor 3); PKR;
Glutamate
ID TOLL-LIKE RECEPTORS; GLUTAMATE TRANSPORTER EXPRESSION; DEPENDENT
PROTEIN-KINASE; INNATE IMMUNE-RESPONSES; NITRIC-OXIDE PRODUCTION;
BORNA-DISEASE VIRUS; SYSTEM X(C)(-); PERITONEAL-MACROPHAGES; ASTROGLIAL
CULTURES; HUNTINGTONS-DISEASE
AB Double-stranded RNAs (dsRNA) serve as viral ligands that trigger innate immunity in astrocytes and microglial, as mediated through Toll-like receptor 3 (TLR3) and dsRNA-dependent protein kinase (PKR). Beneficial transient TLR3 and PKR anti-viral signaling can become deleterious when events devolve into inflammation and cytotoxicity. Viral products in the brain cause glial cell dysfunction, and are a putative etiologic factor in neuropsychiatric disorders, notably schizophrenia, bipolar disorder, Parkinson's, and autism spectrum. Alpha-lipoic acid (LA) has been proposed as a possible therapeutic neuroprotectant. The objective of this study was to test our hypothesis that LA can control untoward antiviral mechanisms associated with neural dysfunction. Utilizing rat brain glial cultures (91% astrocytes:9% microglia) treated with PKR- and TLR3-ligand/viral mimetic dsRNA, polyinosinic-polycytidylic acid (polyl:C), we report in vitro glial antiviral signaling and LA reduction of the effects of this signaling. LA blunted the dsRNA-stimulated expression of IFNa/B-inducible genes Mxl, PKR, and TLR3. And in polyI:C treated cells, LA promoted gene expression of rate-limiting steps that benefit healthy neural redox status in glutamateric systems. To this end, LA decreased dsRNA-induced inflammatory signaling by downregulating IL-1 beta, IL-6, TNF alpha, iNOS, and CAT2 transcripts. In the presence of polyI:C, LA prevented cultured glial cytotoxicity which was correlated with increased expression of factors known to cooperatively control glutamate/cystine/glutathione redox cycling, namely glutamate uptake transporter GLAST/EAAT1, gamma-glutamyl cysteine ligase catalytic and regulatory subunits, and IL-10. Glutamate exporting transporter subunits 4F2hc and xCT were downregulated by LA in dsRNA-stimulated glia. L-Glutamate net uptake was inhibited by dsRNA, and this was relieved by LA. Glutathione synthetase mRNA levels were unchanged by dsRNA or LA. This study demonstrates the protective effects of LA in astroglial/microglial cultures, and suggests the potential for LA efficacy in virus-induced CNS pathologies, with the caveat that antiviral benefits are concomitantly blunted. It is concluded that LA averts key aspects of TLR3- and PKR-provoked glial dysfunction, and provides rationale for exploring LA in whole animal and human clinical studies to blunt or avert neuropsychiatric disorders. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Scumpia, Philip O.; Kelly-Scumpia, Kindra; Stevens, Bruce R.] Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL 32610 USA.
RP Stevens, BR (reprint author), Univ Florida, Coll Med, Dept Physiol & Funct Genom, 1600 SW Archer Rd,Room M552 FedEx,POB 100274 US M, Gainesville, FL 32610 USA.
EM stevensb@UFL.EDU
FU American Heart Association [50975B]; NIH [T35-HL07489]
FX We thank Conn Sumners and Vermali Rodriguez for useful discussion and
assistance. Supported by American Heart Association Grant 50975B (to
B.R.S.) and NIH Grant T35-HL07489 (to P.O.S.).
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NR 110
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 JAN
PY 2014
VL 64
BP 55
EP 63
DI 10.1016/j.neuint.2013.11.006
PG 9
WC Biochemistry & Molecular Biology; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 301SI
UT WOS:000330552000008
PM 24269587
ER
PT J
AU Russo-Ponsaran, NM
Yesensky, J
Hessl, D
Berry-Kravis, E
AF Russo-Ponsaran, Nicole M.
Yesensky, Jessica
Hessl, David
Berry-Kravis, Elizabeth
TI Feasibility, Reproducibility, and Clinical Validity of the Pediatric
Anxiety Rating Scale-Revised for Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; anxiety; outcome measure; rating scale
ID ABERRANT-BEHAVIOR-CHECKLIST; PSYCHOMETRIC PROPERTIES;
MENTAL-RETARDATION; YOUNG GIRLS; DISORDERS; CHILDREN; RELIABILITY;
DEPRESSION; FEMALES; QUESTIONNAIRE
AB Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common known genetic cause of autism. FXS is associated with psychiatric impairments, including anxiety disorders. There is a paucity of well-developed measures to characterize anxiety in FXS. However, such scales are needed to measure therapeutic responses to interventions. The Pediatric Anxiety Rating Scale-Revised (PARS-R) was evaluated in 49 individuals with FXS. Feasibility, reproducibility, and clinical validity were assessed. High inter-rater, test-retest, and cross-site reliability were achieved. PARS-R scores were correlated with parent-report and physician ratings of anxiety, suggesting good clinical validity. Results were similar within gender and age subgroups. The PARS-R is a promising tool for measuring the efficacy of interventions targeting anxiety in FXS.
C1 [Russo-Ponsaran, Nicole M.] Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, Skokie, IL 60076 USA.
[Yesensky, Jessica] Rush Univ, Med Ctr, Skokie, IL 60076 USA.
[Hessl, David] Univ Calif Davis, Med Ctr, MIND Inst, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Berry-Kravis, Elizabeth] Rush Univ, Med Ctr, Dept Pediat, Dept Biochem,Dept Neurol Sci, Skokie, IL 60076 USA.
RP Russo-Ponsaran, NM (reprint author), Rush Univ, Med Ctr, Dept Behav Sci, Rush NeuroBehav Ctr, 4711 W Golf Rd,Suite 1100, Skokie, IL 60076 USA.
EM nicole_russo@rush.edu
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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 JAN
PY 2014
VL 119
IS 1
BP 1
EP 16
DI 10.1352/1944-7558-119.1.1
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000001
PM 24450318
ER
PT J
AU Raspa, M
Bailey, DB
Bann, C
Bishop, E
AF Raspa, Melissa
Bailey, Donald B., Jr.
Bann, Carla
Bishop, Ellen
TI Modeling Family Adaptation to Fragile X Syndrome
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile 'X syndrome; quality of life; social support; well-being
ID AUTISM SPECTRUM DISORDER; NATIONAL PARENT SURVEY;
DEVELOPMENTAL-DISABILITIES; EARLY INTERVENTION; ABERRANT BEHAVIOR;
SOCIAL SUPPORT; YOUNG-CHILDREN; DOWN-SYNDROME; FIT INDEXES; MOTHERS
AB Using data from a survey of 1,099 families who have a child with Fragile X syndrome, we examined adaptation across 7 dimensions of family life: parenting knowledge, social support, social life, financial impact, well-being, quality of life, and overall impact. Results illustrate that although families report a high quality of life, they struggle with areas such as social support, social life, and parenting knowledge. Path analysis revealed that child and family factors play a role in adaptation, but family resources and social supports moderated their effect on quality of life, well-being, and overall impact. The interrelationship among multiple aspects of family life should be examined to improve family resiliency.
C1 [Raspa, Melissa; Bailey, Donald B., Jr.; Bann, Carla; Bishop, Ellen] RTI Int, Res Triangle Pk, NC 27709 USA.
RP Raspa, M (reprint author), RTI Int, Res Triangle Pk, NC 27709 USA.
EM mraspa@rti.org
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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 JAN
PY 2014
VL 119
IS 1
BP 33
EP 48
DI 10.1352/1944-7558-119.1.33
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000003
PM 24450320
ER
PT J
AU Burgess, S
Cimera, RE
AF Burgess, Sloane
Cimera, Robert E.
TI Employment Outcomes of Transition-Aged Adults With Autism Spectrum
Disorders: A State of the States Report
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; employment outcomes; transition-aged;
vocational rehabilitation
ID FOLLOW-UP; YOUNG-ADULTS; YOUTH
AB The primary purpose of this study was to evaluate the employment outcomes of transition-aged adults with autism spectrum disorders (ASD) served by vocational rehabilitation services (VR) over the last 10 years by state. A secondary purpose was to compare employment outcomes of individuals with ASD to those of the overall transition-aged population served by VR for the same time period. Although there was variability both within and among states, the results of this study indicate that, over time, the number of young adults with ASD seeking VR services has increased; however, employment outcomes including the percent of adults with ASD achieving employment, the number of hours worked, and wages earned have not improved for this group. The cost to provide VR services to transition-aged adults with ASD was relatively stable over time. Transition-aged adults with ASD were more likely to become successfully employed as a result of receiving VR services than the overall population of transition-aged adults served by VR. However, the employed transition-aged adults consistently worked fewer hours and earned lower wages than those in the overall population. Factors that may influence variability within and among states, and between groups, and implications for research and practice are discussed.
C1 [Burgess, Sloane] Kent State Univ, Coll Educ Hlth & Human Serv, Kent, OH 44242 USA.
[Cimera, Robert E.] Kent State Univ, Kent, OH 44242 USA.
RP Burgess, S (reprint author), Kent State Univ, Coll Educ Hlth & Human Serv, 150 Terrace Dr,405 White Hall, Kent, OH 44242 USA.
EM sburges8@kent.edu
CR Autism Society of North Carolina, 2013, VOC REH MOD IND AUT
Autism Speaks, 2012, NEW RES FINDS ANN CO
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NR 31
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 JAN
PY 2014
VL 119
IS 1
BP 64
EP 83
DI 10.1352/1944-7558-119.1.64
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000005
PM 24450322
ER
PT J
AU Ankenman, K
Elgin, J
Sullivan, K
Vincent, L
Bernier, R
AF Ankenman, Katy
Elgin, Jenna
Sullivan, Katherine
Vincent, Logan
Bernier, Raphael
TI Nonverbal and Verbal Cognitive Discrepancy Profiles in Autism Spectrum
Disorders: Influence of Age and Gender
SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; IQ
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; INTELLECTUAL ABILITIES; SEX-DIFFERENCES; CHILDREN;
IQ; INDIVIDUALS; SCORES
AB Research suggests that discrepant cognitive abilities are more common in children with autism spectrum disorder (ASD) and may indicate an important ASD endophenotype. The current study examined the frequency of IQ discrepancy profiles (nonverbal IQ > verbal IQ [NVIQ > VIQ], verbal IQ > nonverbal IQ [VIQ > NVIQ], and no split) and the relationship of gender, age, and ASD symptomatology to IQ discrepancy profile in a large sample of children with ASD. The NVIQ > VIQ profile occurred at a higher frequency than expected, had more young males, and showed more autism symptoms than the other groups. Results suggest that the NVIQ > VIQ profile may be less likely to represent a subtype of ASD, but rather a common developmental pathway for children with ASD and other disorders.
C1 [Ankenman, Katy; Elgin, Jenna; Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Sullivan, Katherine] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Vincent, Logan] Univ Washington, Sch Med, Seattle, WA 98195 USA.
RP Bernier, R (reprint author), Univ Washington, Dept Psychiat & Behav Sci, Box 357920, Seattle, WA 98195 USA.
EM rab2@uw.edu
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NR 37
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 JAN
PY 2014
VL 119
IS 1
BP 84
EP 99
DI 10.1352/1944-7558-119.1.84
PG 16
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 296LH
UT WOS:000330186000006
PM 24450323
ER
PT J
AU Hilton, CL
Cumpata, K
Klohr, C
Gaetke, S
Artner, A
Johnson, H
Dobbs, S
AF Hilton, Claudia List
Cumpata, Kristina
Klohr, Cheryl
Gaetke, Shannon
Artner, Amanda
Johnson, Hailey
Dobbs, Sarah
TI Effects of Exergaming on Executive Function and Motor Skills in Children
With Autism Spectrum Disorder: A Pilot Study
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE child development disorders pervasive; exercise; executive function;
motor skills disorders; video games
ID WORKING-MEMORY; PHYSICAL-ACTIVITY; ADOLESCENTS; PERFORMANCE; DEFICITS;
INTACT; IMPAIRMENT; PATTERNS
AB Executive function (EF) and motor deficits have consistently been documented in studies of people with autism spectrum disorders (ASD). We investigated the effects of a pilot 30-session Makoto arena training intervention, a light and sound speed-based exergame, on response speed, EF, and motor skills in school-aged children with ASD. Strong correlations were seen between certain EF and motor scores, suggesting a relationship between the two constructs. Participants increased their average reaction speed (effect size = 1.18). Significant improvement was seen in the EF areas of working memory and metacognition and the motor area of strength and agility. Findings suggest that use of exergaming, specifically the Makoto arena, has the potential to be a valuable addition to standard intervention for children with ASD who have motor and EF impairments.
C1 [Hilton, Claudia List] Univ Texas Med Branch, Occupat Therapy Dept, Galveston, TX 77555 USA.
[Cumpata, Kristina] Childrens Med Ctr, Dallas, TX 75235 USA.
[Klohr, Cheryl] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
[Gaetke, Shannon] Coastal Therapy Serv, Charleston, SC USA.
[Artner, Amanda] Smile Pediat Therapy, Los Angeles, CA USA.
[Johnson, Hailey] Anderson Hosp, Maryville, IL USA.
[Dobbs, Sarah] St Joseph Med Ctr, Kansas City, MO USA.
RP Hilton, CL (reprint author), Univ Texas Med Branch, Occupat Therapy Dept, Galveston, TX 77555 USA.
EM clhilton@utmb.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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World Health Organisation, 2001, INT CLASS FUNCT DIS
Wuang YP, 2011, RES DEV DISABIL, V32, P312, DOI 10.1016/j.ridd.2010.10.002
NR 48
TC 3
Z9 3
PU AMER OCCUPATIONAL THERAPY ASSOC, INC
PI BETHESDA
PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA
SN 0272-9490
EI 1943-7676
J9 AM J OCCUP THER
JI Am. J. Occup. Ther.
PD JAN-FEB
PY 2014
VL 68
IS 1
BP 57
EP 65
DI 10.5014/ajot.2014.008664
PG 9
WC Rehabilitation
SC Rehabilitation
GA 296CA
UT WOS:000330161500009
PM 24367956
ER
PT J
AU Suarez, MA
Atchison, BJ
Lagerwey, M
AF Suarez, Michelle A.
Atchison, Ben J.
Lagerwey, Mary
TI Phenomenological Examination of the Mealtime Experience for Mothers of
Children With Autism and Food Selectivity
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE autistic disorder; feeding behavior; food habits; meals; mothers
ID SPECTRUM DISORDERS; PARENTS; STRESS
AB Many children within the autism population also have food selectivity, and it is not clear how this comorbid difficulty affects the mealtime experience for families. The purpose of this qualitative interview study was to gain an understanding of the mealtime experience of mothers of children with autism and food selectivity. The transcribed interviews were analyzed using a phenomenological approach. Mothers in this study described mealtime as difficult and stressful. Reasons for mealtime stress included the child's self-restricted diet and difficulty sitting at the table. The mothers described attempts to improve mealtime but little success. Implications of the findings are discussed in the context of the literature.
C1 [Suarez, Michelle A.; Atchison, Ben J.] Western Michigan Univ, Occupat Therapy Dept, Coll Hlth & Human Serv, Kalamazoo, MI 49008 USA.
[Lagerwey, Mary] Western Michigan Univ, Bronson Sch Nursing, Kalamazoo, MI 49008 USA.
RP Suarez, MA (reprint author), Western Michigan Univ, Occupat Therapy Dept, Coll Hlth & Human Serv, 3405 CHHS, Kalamazoo, MI 49008 USA.
EM michelle.a.suarez@wmich.edu
CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 20
TC 2
Z9 2
PU AMER OCCUPATIONAL THERAPY ASSOC, INC
PI BETHESDA
PA 4720 MONTGOMERY LANE, BETHESDA, MD 20814-3425 USA
SN 0272-9490
EI 1943-7676
J9 AM J OCCUP THER
JI Am. J. Occup. Ther.
PD JAN-FEB
PY 2014
VL 68
IS 1
BP 102
EP 107
DI 10.5014/ajot.2014.008748
PG 6
WC Rehabilitation
SC Rehabilitation
GA 296CA
UT WOS:000330161500014
PM 24367961
ER
PT J
AU Razek, AA
Mazroa, J
Baz, H
AF Razek, Ahmed Abdel
Mazroa, Jehan
Baz, Hemmat
TI Assessment of white matter integrity of autistic preschool children with
diffusion weighted MR imaging
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Autism; Child; Diffusion; MR imaging
ID VOXEL-BASED MORPHOMETRY; SPECTRUM DISORDER; CORPUS-CALLOSUM;
YOUNG-CHILDREN; SCHIZOPHRENIA; BRAIN; ABNORMALITIES
AB The purpose was to assess white matter integrity of autistic preschool children with diffusion weighted MR imaging. Prospective study was carried on 19 autistic children (mean age 55.2 ms, IQ of 86.5) and 10 sex, age and IQ matched control (mean age 53.2 ms, IQ 84.5). The childhood Autism Rating Scale (CARS), social age and language age were calculated. Patients and controls underwent diffusion weighted MR imaging of the brain with b factor of 0, 500 and 1000 s/mm(2). The apparent diffusion coefficient (ADC) value at different regions of the white matter were calculated and correlated with CARS, social age and language age. There were significant differences at the ADC value of the white matter between autistic and control children at genu (P = 0.043), splenium (P = 0.003) of the corpus callosum, frontal white matter (P = 0.015) and temporal white matter (P = 0.020). There was positive correlation of CARS score with ADC value of the genu (r = 0.63, P = 0.001), splenium (r = 0.59, P = 0.005), frontal white matter (r = 0.81, P = 0.001) and temporal white matter (r = 0.74, P = 0.001). The social age well correlated with ADC value of the frontal white matter (r = 0.81, P = 0.001) and language age well correlated with ADC value of the temporal white matter (r = 0.78, P = 0.001). We concluded that ADC value can be helpful in assessment of integrity of the white matter in autistic preschool children and well correlated with CARS score, social age and language age. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Razek, Ahmed Abdel; Mazroa, Jehan] Mansoura Fac Med, Dept Diagnost Radiol, Mansoura 13551, Egypt.
[Baz, Hemmat] Mansoura Fac Med, ENT Dept, Phonet Unit, Mansoura 13551, Egypt.
RP Razek, AA (reprint author), Mansoura Fac Med, Dept Diagnost Radiol, Mansoura 13551, Egypt.
EM arazek@mans.edu.eg
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NR 45
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD JAN
PY 2014
VL 36
IS 1
BP 28
EP 34
DI 10.1016/j.braindev.2013.01.003
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA 296BO
UT WOS:000330160300007
ER
PT J
AU Matsuoka, M
Nagamitsu, S
Iwasaki, M
Iemura, A
Yamashita, Y
Maeda, M
Kitani, S
Kakuma, T
Uchimura, N
Matsuishi, T
AF Matsuoka, Michiko
Nagamitsu, Shinichiro
Iwasaki, Mizue
Iemura, Akiko
Yamashita, Yushiro
Maeda, Masaharu
Kitani, Shingo
Kakuma, Tatsuyuki
Uchimura, Naohisa
Matsuishi, Toyojiro
TI High incidence of sleep problems in children with developmental
disorders: Results of a questionnaire survey in a Japanese elementary
school
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Sleep problem; Children; The Children's Sleep Habits Questionnaire;
Pervasive developmental disorder; Attention deficit hyperactivity
disorder; Developmental disorder
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
HABITS QUESTIONNAIRE; DAYTIME SLEEPINESS; ASPERGER-SYNDROME; QUALITY
INDEX; CHILDHOOD; HYPERACTIVITY; SYMPTOMS; PARENTS
AB Objective: The aim of the present school-based questionnaire was to analyze the sleep problems of children with developmental disorders, such as pervasive developmental disorder and attention deficit hyperactivity disorder. Methods: The sleep problems of 43 children with developmental disorders were compared with those of 372 healthy children (control group). All children attended one public elementary school in Kurume, Japan; thus, the study avoided the potential bias associated with hospital-based surveys (i.e. a high prevalence of sleep disturbance) and provided a more complete picture of the children's academic performance and family situation compared with a control group under identical conditions. Children's sleep problems were measured with the Japanese version of the Children's Sleep Habits Questionnaire (CSHQ). Results: Children with developmental disorders had significantly higher total CSHQ scores, as well as mean scores on the parasomnias and sleep breathing subscales, than children in the control group. The total CSHQ score, bedtime resistance, sleep onset delay, and daytime sleepiness worsened with increasing age in children with developmental disorders; in contrast, these parameters were unchanged or became better with age in the control group. In children with developmental disorders, there was a significant association between a higher total CSHQ score and lower academic performance, but no such association was found in the control group. For both groups, children's sleep problems affected their parents' quality of sleep. There were no significant differences in physical, lifestyle, and sleep environmental factors, or in sleep/wake patterns, between the two groups. Conclusions: Children with developmental disorders have poor sleep quality, which may affect academic performance. It is important for physicians to be aware of age-related differences in sleep problems in children with developmental disorders. Further studies are needed to identify the association between sleep quality and school behavioral performance. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Matsuoka, Michiko; Nagamitsu, Shinichiro; Iwasaki, Mizue; Iemura, Akiko; Yamashita, Yushiro; Matsuishi, Toyojiro] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan.
[Matsuoka, Michiko; Maeda, Masaharu; Uchimura, Naohisa] Kurume Univ, Sch Med, Dept Neuropsychiat, Kurume, Fukuoka 830, Japan.
[Matsuoka, Michiko] Kurume Univ, Grad Sch Med, Dept Neuropsychiat, Kurume, Fukuoka 830, Japan.
[Kitani, Shingo] Kurume Univ, Grad Sch Med, Dept Biostat, Kurume, Fukuoka 830, Japan.
[Kakuma, Tatsuyuki] Kurume Univ, Ctr Biostat, Sch Med, Kurume, Fukuoka 830, Japan.
RP Matsuishi, T (reprint author), Kurume Univ, Sch Med, Dept Pediat & Child Hlth, 67 Asahi Machi, Kurume, Fukuoka 8300011, Japan.
EM tmatsu@med.kurume-u.ac.jp
FU Ministry of Education, Culture, Sports, Science, and Technology
[22591143]; NCNP [22-6]
FX This work was supported by a Grant from the Ministry of Education,
Culture, Sports, Science, and Technology (No. 22591143) and, in part, by
an Intramural Research Grant (22-6; Clinical Research for Diagnostic and
Therapeutic Innovations in Developmental Disorders) for Neurological and
Psychiatric Disorders of NCNP.
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NR 45
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0387-7604
EI 1872-7131
J9 BRAIN DEV-JPN
JI Brain Dev.
PD JAN
PY 2014
VL 36
IS 1
BP 35
EP 44
DI 10.1016/j.braindev.2013.12.004
PG 10
WC Clinical Neurology
SC Neurosciences & Neurology
GA 296BO
UT WOS:000330160300008
PM 23305729
ER
PT J
AU Stoner, CR
Stoner, JB
AF Stoner, Charles R.
Stoner, Julia B.
TI How can we make this work? Understanding and responding to working
parents of children with autism
SO BUSINESS HORIZONS
LA English
DT Article
DE Autism; Family-friendly workplace; Work-life balance; Organizational
culture; Parenting children disabilities and work
ID BEHAVIORAL-DISORDERS; ASPERGER-SYNDROME; DOWN-SYNDROME; DISABILITIES;
DIAGNOSIS; STRESS; FAMILIES; MOTHERS; TIME
AB As autism spectrum disorder (ASD) escalates in prevalence, organizations are likely to encounter employees whose lives are touched and reframed by this intense, pervasive, and lifelong condition. Families are dramatically affected as emotional and financial challenges are heightened. Employees want and need to remain productive members of their organizations, but some adjustments are necessary. However, little is known regarding the needs and expectations of employees whose children have been diagnosed with ASD. Even less is known about how organizations, managers, and co-workers can respond to provide sensitivity, maintain overall team equity, and ensure high-quality performance. This article reports the results of an in-depth study of working parents of children with ASD as they openly and candidly share perspectives on workplace needs and accommodations. Employees-adamant that performance expectations should not be mitigated discussed the support and the primary accommodation they sought: flexibility. Guides for both managers and co-workers are offered herein. (C) 2013 Kelley School of Business, Indiana University. Published by Elsevier Inc. All rights reserved.
C1 [Stoner, Charles R.] Bradley Univ, Dept Management & Leadership, Peoria, IL 61625 USA.
[Stoner, Julia B.] Illinois State Univ, Dept Special Educ, Normal, IL 61790 USA.
RP Stoner, CR (reprint author), Bradley Univ, Dept Management & Leadership, Peoria, IL 61625 USA.
EM crs@fsmail.bradley.edu; jbstone@ilstu.edu
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NR 37
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0007-6813
EI 1873-6068
J9 BUS HORIZONS
JI Bus. Horiz.
PD JAN-FEB
PY 2014
VL 57
IS 1
BP 85
EP 95
DI 10.1016/j.bushor.2013.10.002
PG 11
WC Business
SC Business & Economics
GA 295ZZ
UT WOS:000330156200010
ER
PT J
AU Ward, CS
AF Ward, Charles S.
TI Autism's cancer connection: The anti-proliferation hypothesis and why it
may matter
SO MEDICAL HYPOTHESES
LA English
DT Article
ID HISTONE DEACETYLASE INHIBITORS; TUMOR-NECROSIS-FACTOR; SEROTONIN
REUPTAKE INHIBITORS; DE-NOVO MUTATIONS; SPECTRUM DISORDERS; VALPROIC
ACID; DENDRITIC CELLS; FACTOR-ALPHA; ANTIDEPRESSANT SERTRALINE;
ANTICALMODULIN DRUGS
AB Autism remains an idiopathic disorder in 90% of cases. Recent prevalence, heritability, and genetic studies are suggestive that epigenetic and, therefore, environmental factors are important in autism pathogenesis. Among the environmental factors, only some uncommon viral infections and certain drugs have been conclusively linked to autism causation. Thalidomide, valproate, terbutaline and, most recently, antidepressants are the main drugs reported to elevate autism risk. This article discusses a phenomenal relationship between the drugs reported to elevate autism risk and the antiproliferative effects of the same drugs and/or analogs of the drugs in cancer cells.
Cancer treatment has entered a new era-epigenetic therapy. In cancer cell lines, thalidomide is anti-angiogenic and antiproliferative via suppression of tumor necrosis factor-alpha (TNF-alpha) and downstream effects on the nuclear factor (NF kappa B) cascade. Valproate shares similar mechanisms with thalidomide, but is best known in cancer therapy for its epigenetic effects as a histone deacetylase inhibitor. Terbutaline, a beta-adrenergic agonist, acts via adenylyl cyclase and cAMP-PKA signal transduction. Current cancer therapy aims to exploit this epigenetic pathway by developing site-selective cAMP analogs. Last, it has long been noted in preclinical studies that some antidepressants are antiproliferative in cancer cells but the mechanisms remain unclear.
Based on a systematic review of these drugs, it is hypothesized that all central nervous system-acting drugs, which show antiproliferative effects in cancer cell lines, share the potential to elevate autism risk when administered prenatally. It is further posited that, in autism, the drugs act as "triggers" that disturb the pro-proliferative fetal milieu using the same, mainly epigenetic, mechanisms that they demonstrate in rapidly proliferating cancer cells. In addition to their direct antiproliferative effects, evidence is suggestive that the drugs may lock in the pro-inflammatory bias of the prenatal immune system by preventing normal perinatal dendritic cell maturation.
This unifying hypothesis for how structurally different drugs elevate autism risk could help focus research on other drugs, or other xenobiotics, that may elevate autism risk. For example, there is evidence that an old class of drugs, the phenothiazines, is antiproliferative in cancer cell lines via inhibition of calmodulin and/or histaminic pathways. Promethazine, one of the first heterocyclic phenothiazines synthesized, is commonly prescribed during pregnancy; however, its role in elevating the risk of autism has not been investigated. Based on the anti-proliferation hypothesis, more studies of promethazine and other similar drugs are suggested to evaluate their potential to elevate autism risk following prenatal exposures. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Fincastle Family Med, LaFolette, TN 37766 USA.
RP Ward, CS (reprint author), Fincastle Family Med, 541 Old Middlesboro Hwy, LaFolette, TN 37766 USA.
EM docward@comcast.net
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NR 161
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD JAN
PY 2014
VL 82
IS 1
BP 26
EP 35
DI 10.1016/j.mehy.2013.10.029
PG 10
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 295WZ
UT WOS:000330148400007
PM 24275522
ER
PT J
AU Jaschke, AC
AF Jaschke, Artur C.
TI Music intervention as system: Reversing hyper systemising in autism
spectrum disorders to the comprehension of music as intervention
SO MEDICAL HYPOTHESES
LA English
DT Article
ID COGNITIVE-STYLE; SCERTS MODEL; CHILDREN; COMMUNICATION; MODULARITY; TOOL
AB This paper seeks to combine the notion of the Empathising-Systemising (E-S) theory and the resulting twist from the executive dysfunction theory in autism spectrum conditions (ASC) in light of music intervention as system.
To achieve these points it will be important to re-visit, nonetheless briefly, the above mentioned theories and re-define music intervention in the light of these.
Furthermore there is the need to adjust the executive dysfunction theory to a theory of dysfunctioning executive functions. These notions will create a different understanding of music intervention in this context, allowing the development of future and existing music intervention programs applied clinically. These applications will evolve around a structuralised approach to music intervention as system, proposing five consecutive systems. It will therefore argue the aspects of expanding existing theories in ASC together with the call for generalised interventions to better assess autism from a theoretical point of view. Theories have to be updated in a time of fast and ever-changing development. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Vrije Univ Amsterdam, Dept Clin Neuropsychol, NL-1081 BT Amsterdam, Netherlands.
RP Jaschke, AC (reprint author), Vrije Univ Amsterdam, Dept Clin Neuropsychol, Van der Boechorststr 1, NL-1081 BT Amsterdam, Netherlands.
EM a.c.jaschke@vu.nl
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NR 75
TC 0
Z9 0
PU CHURCHILL LIVINGSTONE
PI EDINBURGH
PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE,
LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND
SN 0306-9877
EI 1532-2777
J9 MED HYPOTHESES
JI Med. Hypotheses
PD JAN
PY 2014
VL 82
IS 1
BP 40
EP 48
DI 10.1016/j.mehy.2013.11.001
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 295WZ
UT WOS:000330148400009
PM 24280561
ER
PT J
AU Ferrari, PF
AF Ferrari, Pier F.
TI The neuroscience of social relations. A comparative-based approach to
empathy and to the capacity of evaluating others' action value
SO BEHAVIOUR
LA English
DT Article
DE mirror neurons; neuroeconomics; mimicry; embodiment; orbitofrontal
cortex
ID MIRROR-NEURON SYSTEM; AUTISM SPECTRUM DISORDERS; ORBITOFRONTAL CORTEX;
PREMOTOR CORTEX; FACIAL EXPRESSIONS; NEONATAL IMITATION; SHARED
MANIFOLD; PAIN; ORGANIZATION; MECHANISMS
AB One of the key questions in understanding human morality is how central are emotions in influencing our decisions and in our moral judgments. Theoretical work has proposed that empathy could play an important role in guiding our tendencies to behave altruistically or selfishly. Neurosciences suggest that one of the core elements of empathic behaviour in human and nonhuman primates is the capacity to internally mimic the behaviour of others, through the activation of shared motor representations. Part of the neural circuits involves parietal and premotor cortical regions (mirror system), in conjunction with other areas, such as the insula and the anterior cingulate cortex. Together with this embodied neural mechanism, there is a cognitive route in which individuals can evaluate the social situation without necessary sharing the emotional state of others. For example, several brain areas of the prefrontal cortex track the effects of one's own behaviour and of the value of one's own actions in social contexts. It is here proposed that, moral cognition could emerge as the consequence of the activity of emotional processing brain networks, probably involving mirror mechanisms, and of brain regions that, through abstract-inferential processing, evaluate the social context and the value of actions in terms of abstract representations. A comparative-based approach to the neurobiology of social relations and decision-making may explain how complex mental faculties, such as moral judgments, have their foundations in brain networks endowed with functions related to emotional and abstract-evaluation processing of goods. It is proposed that in primate evolution these brain circuits have been co-opted in the social domain to integrate mechanisms of self-reward, estimation of negative outcomes, with emotional engagement.
C1 Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
RP Ferrari, PF (reprint author), Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
EM pierfrancesco.ferrari@unipr.it
FU NIH [P01HD064653]
FX This research was supported by the NIH P01HD064653 grant. I would like
to thank Elizabeth Simpson for her comments on an early version of the
draft.
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NR 67
TC 1
Z9 1
PU BRILL ACADEMIC PUBLISHERS
PI LEIDEN
PA PLANTIJNSTRAAT 2, P O BOX 9000, 2300 PA LEIDEN, NETHERLANDS
SN 0005-7959
EI 1568-539X
J9 BEHAVIOUR
JI Behaviour
PY 2014
VL 151
IS 2-3
SI SI
BP 297
EP 313
DI 10.1163/1568539X-00003152
PG 17
WC Behavioral Sciences; Zoology
SC Behavioral Sciences; Zoology
GA 293OF
UT WOS:000329981200013
ER
PT J
AU Al Ageeli, E
Drunat, S
Delanoe, C
Perrin, L
Baumann, C
Capri, Y
Fabre-Teste, J
Aboura, A
Dupont, C
Auvin, S
El Khattabi, L
Chantereau, D
Moncla, A
Tabet, AC
Verloes, A
AF Al Ageeli, Essam
Drunat, Severine
Delanoe, Catherine
Perrin, Laurence
Baumann, Clarisse
Capri, Yline
Fabre-Teste, Jennifer
Aboura, Azzedine
Dupont, Celine
Auvin, Stephane
El Khattabi, Laila
Chantereau, Dominique
Moncla, Anne
Tabet, Anne-Claude
Verloes, Alain
TI Duplication of the 15q11-q13 region: Clinical and genetic study of 30
new cases
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Developmental delay; Autism; invdup(15); Parental origin; Seizure; EEG
ID PRADER-WILLI-SYNDROME; STRUCTURALLY ABNORMAL CHROMOSOMES; DUP(15)
SUPERNUMERARY MARKER; AUTISM SPECTRUM DISORDERS; IN-SITU HYBRIDIZATION;
PROXIMAL 15Q; INTERSTITIAL DUPLICATIONS; MOLECULAR CHARACTERIZATION;
DEVELOPMENTAL DISORDER; CYTOGENETIC ANALYSIS
AB Background: 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1-BP5). Duplication of this region is observed in two instances: presence of a supernumerary marker chromosome (SMC) derived of chromosome 15, or interstitial tandem duplication. Duplications are clinically characterized by a variable phenotype that includes central hypotonia, developmental delay, speech delay, seizure, minor dysmorphic features and autism.
Methods: Retrospective clinical and molecular study of 30 unrelated patients who were identified among the patients seen at the genetic clinics of Robert DEBRE hospital with microduplication of the 15q11-q13 region.
Results: Fifteen patients presented with a supernumerary marker derived from chromosome 15. In fourteen cases the SMC was of large size, encompassing the Prader-Willi/Angelman critical region. All but one was maternal in origin. One patient had a PWS-like phenotype in absence of maternal UPD. In one case, the marker had a smaller size and contained only the BP1-BP2 region. Fifteen patients presented with interstitial duplication. Four cases were inherited from phenotypically normal parents (3 maternal and 1 paternal). Phenotypic features were somewhat variable and 57% presented with autism. Twelve patients showed cerebral anomalies and 18 patients had an abnormal EEG with a typical, recognizable pattern of excessive diffuse rapid spikes in the waking record, similar to the pattern observed after benzodiazepine exposure. Duplication of paternally expressed genes MKRN3, MAGEL2 and NDN in two autistic patients without extra material of a neighboring region enhances their likelihood to be genes related to autism. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Al Ageeli, Essam; Drunat, Severine; Perrin, Laurence; Baumann, Clarisse; Capri, Yline; Fabre-Teste, Jennifer; Aboura, Azzedine; Dupont, Celine; El Khattabi, Laila; Chantereau, Dominique; Tabet, Anne-Claude; Verloes, Alain] Robert Debre Univ Hosp, APHP, Dept Med Genet, Paris, France.
[Al Ageeli, Essam; Drunat, Severine; Perrin, Laurence; Baumann, Clarisse; Capri, Yline; Fabre-Teste, Jennifer; Aboura, Azzedine; Dupont, Celine; El Khattabi, Laila; Chantereau, Dominique; Tabet, Anne-Claude; Verloes, Alain] Univ Paris 07, Paris, France.
[Al Ageeli, Essam] Jazan Univ, Fac Med, Jazan, Saudi Arabia.
[Delanoe, Catherine] Robert Debre Hosp, AP HP, Dept Physiol, Paris, France.
[Auvin, Stephane] Robert Debre Hosp, AP HP, Dept Child Neurol, Paris, France.
[Moncla, Anne] La Timone Hosp, Dept Med Genet, Marseille, France.
[Verloes, Alain] Robert Debre Hosp, INSERM PROTECT UMR676, Paris, France.
RP Verloes, A (reprint author), Hop Robert Debre, Dept Genet, 48 Bd Serurier, F-75019 Paris, France.
EM alain.verloes@rdb.aphp.fr
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NR 50
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 1769-7212
EI 1878-0849
J9 EUR J MED GENET
JI Eur. J. Med. Genet.
PD JAN
PY 2014
VL 57
IS 1
BP 5
EP 14
DI 10.1016/j.ejmg.2013.10.008
PG 10
WC Genetics & Heredity
SC Genetics & Heredity
GA 293LB
UT WOS:000329971500002
PM 24239951
ER
PT J
AU Sugiura, M
AF Sugiura, Motoaki
TI Neuroimaging studies on recognition of personally familiar people
SO FRONTIERS IN BIOSCIENCE-LANDMARK
LA English
DT Article
DE Face; Familiar; fMRI; Long-term memory; Name; Recognition; Review
ID SELF-FACE RECOGNITION; POSITRON-EMISSION-TOMOGRAPHY; AUTISM SPECTRUM
DISORDERS; EVENT-RELATED FMRI; NEURAL BASIS; ROMANTIC LOVE; FUNCTIONAL
NEUROANATOMY; ORBITOFRONTAL CORTEX; BRAIN RESPONSES; AUTOBIOGRAPHICAL
MEMORY
AB From an evolutionary viewpoint, readiness to engage in appropriate behavior toward a recognized person seems to be inherent in the human brain. In support of this hypothesis, functional neuroimaging studies have demonstrated activation in regions relevant to relationship-appropriate behavior during the recognition of personally familiar (PF) people. Recognition of friends and colleagues activates regions involved in real-time communication, including the regions for inference about the other's mental state, autobiographical memory retrieval, and self-referential processes. Recognition of people related by romantic love, maternal love, and lost love induces activation in regions involved in motivational, reward, and affective processes, reflecting behavioral readiness for mating, caretaking, and yearning, respectively. The involvement of motor-associated cortices during recognition of a personal enemy may reflect readiness for attack or defense. Self-recognition in a body-related modality uniquely activates sensory and motor association cortices reflecting the sensorimotor origin of the bodily self-concept, with social cognitive processes being suppressed or context dependent. Issues and future directions are also discussed.
C1 [Sugiura, Motoaki] Tohoku Univ, Inst Dev Aging & Canc, Aoba Ku, Sendai, Miyagi 9808575, Japan.
[Sugiura, Motoaki] Tohoku Univ, Int Res Inst Disaster Sci, Aoba Ku, Sendai, Miyagi 9808575, Japan.
RP Sugiura, M (reprint author), Tohoku Univ, Inst Dev Aging & Canc, Dept Funct Brain Imaging, Aoba Ku, Seiryo Machi 4-1, Sendai, Miyagi 9808575, Japan.
EM motoaki@idac.tohoku.ac.jp
FU MEXT [25101702]
FX Preparation of this manuscript was supported in part by KAKENHI 25101702
(MEXT).
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NR 109
TC 1
Z9 1
PU FRONTIERS IN BIOSCIENCE INC
PI IRVINE
PA 16471 SCIENTIFIC WAY, IRVINE, CA 92618 USA
SN 1093-9946
EI 1093-4715
J9 FRONT BIOSCI-LANDMRK
JI Front. Biosci.
PD JAN 1
PY 2014
VL 19
BP 672
EP 686
DI 10.2741/4235
PG 15
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA 294FR
UT WOS:000330029200007
PM 24389212
ER
PT J
AU Meinzen-Derr, J
Wiley, S
Bishop, S
Manning-Courtney, P
Choo, DI
Murray, D
AF Meinzen-Derr, Jareen
Wiley, Susan
Bishop, Somer
Manning-Courtney, Patricia
Choo, Daniel I.
Murray, Donna
TI Autism spectrum disorders in 24 children who are deaf or hard of hearing
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Article
DE Autism; ASD; Deaf; Hard of hearing; Hearing loss
ID COCHLEAR IMPLANTS; LANGUAGE-DEVELOPMENT; DEVELOPMENTAL DISORDERS;
DIAGNOSTIC INTERVIEW; YOUNG-CHILDREN; IDENTIFICATION; INTERVENTION;
DISABILITIES; AGE; SURVEILLANCE
AB Objectives: Approximately 4% of children who are deaf or hard of hearing have co-occurring autism spectrum disorder (ASD). Making an additional diagnosis of ASD in this population can be challenging, given the complexities of determining whether speech/language and social delays can be accounted for by their hearing loss, or whether these delays might be indicative of a comorbid ASD diagnosis. This exploratory study described a population of 24 children with the dual diagnosis of ASD and hearing loss.
Methods: Children completed a comprehensive ASD evaluation using standardized autism diagnostic instruments (Autism Diagnostic Observation Schedule, language and psychological testing). Children with permanent hearing loss who had a developmental evaluation between 2001 and 2011 and were diagnosed with an ASD based on the results of that evaluation were included. Information on communication modality, language and cognitive abilities was collected.
Results: The median age of diagnosis was 14 months (range 1-71) for hearing loss and 66.5 months (range 33-106) for ASD. Only 25% (n = 6) children were diagnosed with ASD <= 48 months of age and 46% by <= 6 years. Twelve (50%) children were diagnosed with ASD, 11 were diagnosed with pervasive developmental disorder not otherwise specified and 1 child had Asperger's. Most (67%) had profound degree of hearing loss. Fourteen (58%) children had received a cochlear implant, while 3 children had no amplification for hearing loss. Nine (38%) of the 24 children used speech as their mode of communication (oral communicators).
Conclusions: Communication delays in children who are deaf or hard of hearing are a serious matter and should not be assumed to be a direct consequence of the hearing loss. Children who received cochlear implants completed a multidisciplinary evaluation including a developmental pediatrician, which may have provided closer monitoring of speech and language progression and subsequently an earlier ASD diagnosis. Because children who are deaf or hard of hearing with ASD are challenging to evaluate, they may receive a diagnosis of ASD at older ages. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Meinzen-Derr, Jareen] Cincinnati Childrens Hosp Med Ctr, Div Biostat, Cincinnati, OH 45229 USA.
[Meinzen-Derr, Jareen] Cincinnati Childrens Hosp Med Ctr, Div Epidemiol, Cincinnati, OH 45229 USA.
[Meinzen-Derr, Jareen; Wiley, Susan; Manning-Courtney, Patricia; Choo, Daniel I.; Murray, Donna] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[Bishop, Somer] Weill Cornell Med Coll, Dept Psychiat, New York, NY USA.
RP Meinzen-Derr, J (reprint author), Cincinnati Childrens Hosp Med Ctr, 3333 Burnet Ave MLC 5041, Cincinnati, OH 45229 USA.
EM jareen.meinzen-derr@cchmc.org
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Title V, Social Security Act), Health Resources and Services
Administration, Department of Health and Human Services [R40MC21513]
FX This study was supported by grant R40MC21513 from the Maternal and Child
Health Research Program, Maternal and Child Health Bureau (Title V,
Social Security Act), Health Resources and Services Administration,
Department of Health and Human Services. The funding source had no
involvement in the study design, collection, analysis, or writing of the
manuscript.
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NR 50
TC 5
Z9 5
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD JAN
PY 2014
VL 78
IS 1
BP 112
EP 118
PG 7
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA 293GJ
UT WOS:000329959100024
PM 24290951
ER
PT J
AU Khor, AS
Gray, KM
Reid, SC
Melvin, GA
AF Khor, Angela S.
Gray, Kylie M.
Reid, Sophie C.
Melvin, Glenn A.
TI Feasibility and validity of ecological momentary assessment in
adolescents with high-functioning autism and Asperger's disorder
SO JOURNAL OF ADOLESCENCE
LA English
DT Article
DE Ecological momentary assessment; Autism spectrum disorder
ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; EMOTIONAL-PROBLEMS;
COPING STYLE; CHILDREN; STRESS; CONCEPTUALIZATION; INDIVIDUALS;
DEPRESSION; EXPERIENCE
AB Ecological Momentary Assessment (EMA) may increase accuracy of data compared with retrospective questionnaires by assessing behaviours as they occur, hence decreasing recall biases and increasing ecological validity. This study examined the feasibility and concurrent validity of an EMA tool for adolescents with High-Functioning Autism Spectrum Disorders (HFASD). Thirty-one adolescents with HFASD completed a mobile phone EMA application that assessed stressors and coping for two weeks. Parents and adolescents also completed retrospective measures of the adolescent's coping/stressors. Moderate compliance with the EMA tool was achieved and some concurrent validity was established with the retrospective measure of coping. Concordance was found between the types of stressors reported by parents and adolescents but not the quantity. The results suggest adolescents with HFASD are capable of reporting on their stressors and coping via EMA. EMA has the potential to be a valuable research tool in this population. (C) 2013 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.
C1 [Khor, Angela S.; Gray, Kylie M.; Melvin, Glenn A.] Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
[Reid, Sophie C.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
RP Melvin, GA (reprint author), Monash Univ, Ctr Dev Psychiat & Psychol, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia.
EM Angela.khor@gmail.com; Kylie.gray@monash.edu; Sophie.reid@mcri.edu.au;
Glenn.melvin@monash.edu
RI Gray, Kylie/H-3345-2014
OI Gray, Kylie/0000-0001-6518-4240
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NR 47
TC 1
Z9 1
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0140-1971
EI 1095-9254
J9 J ADOLESCENCE
JI J. Adolesc.
PD JAN
PY 2014
VL 37
IS 1
BP 37
EP 46
DI 10.1016/j.adolescence.2013.10.005
PG 10
WC Psychology, Developmental
SC Psychology
GA 293ZS
UT WOS:000330012800005
PM 24331303
ER
PT J
AU Burka, SD
Van Cleve, SN
Shafer, S
Barkin, JL
AF Burka, Stacy D.
Van Cleve, Susan N.
Shafer, Sheree
Barkin, Jennifer L.
TI Integration of Pediatric Mental Health Care: An Evidence-Based Workshop
for Primary Care Providers
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Mental health integration; primary care; pediatric mental health;
workshop
ID SUPPLEMENT NCS-A; ADOLESCENT PSYCHIATRISTS; SPACED EDUCATION; CHILDREN;
DISORDERS; AUTISM; TRIAL
AB Introduction: Pediatric primary care providers (PCPs) are being asked to care for children with mental health (MH) disorders but cite inadequate training as a barrier. An intensive workshop may improve the PCPs' level of knowledge and lead to an increase in quality care for children with MH disorders. We compared pediatric PCPs' knowledge, comfort, and practice in the evaluation and management of pediatric patients with attention deficit-hyperactivity disorder, depression, anxiety, and autism spectrum disorders before and after a 2-day educational workshop.
Method: Study participants (n = 30) were recruited from rural areas of Pennsylvania. A pre-and posttest design was used. A 15-question multiple choice knowledge test and a 19-question survey of comfort and practice were administered before and after the workshop.
Results: The mean knowledge test number correct increased from 9.19 before the workshop to 12.23 after the workshop (p <.0001). Survey scores increased from 34.6 before the workshop to 44.14 after the workshop (p <.0001).
Discussion: Intensive workshops may be an effective method of training PCPs on provision of MH care in pediatric primary care practice.
C1 [Burka, Stacy D.] Interim HealthCare, Pittsburgh, PA USA.
[Van Cleve, Susan N.] Robert Morris Univ, Sch Nursing & Hlth Sci, Moon Township, PA USA.
[Shafer, Sheree] Childrens Community Care Armstrong Pediat, Kittanning, PA USA.
[Barkin, Jennifer L.] Mercer Univ, Sch Med, Macon, GA 31207 USA.
RP Burka, SD (reprint author), 134 Merry Lane, Butler, PA 16001 USA.
EM sdbst14@mail.rmu.edu
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NR 50
TC 1
Z9 1
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0891-5245
EI 1532-656X
J9 J PEDIATR HEALTH CAR
JI J. Pediatr. Health Care
PD JAN-FEB
PY 2014
VL 28
IS 1
BP 23
EP 34
DI 10.1016/j.pedhc.2012.10.006
PG 12
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA 290UK
UT WOS:000329783600007
PM 23651700
ER
PT J
AU Walsh, S
Horgan, J
May, RJ
Dymond, S
Whelan, R
AF Walsh, Sinead
Horgan, Jennifer
May, Richard J.
Dymond, Simon
Whelan, Robert
TI FACILITATING RELATIONAL FRAMING IN CHILDREN AND INDIVIDUALS WITH
DEVELOPMENTAL DELAY USING THE RELATIONAL COMPLETION PROCEDURE
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE derived relational responding; relational completion procedure; autism
spectrum disorder; mouse click; touch screen; humans
ID EQUIVALENCE; TRANSFORMATION; ACCORDANCE; OPERANT
AB The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure.
C1 [Walsh, Sinead; Horgan, Jennifer] Univ Dublin Trinity Coll, Dublin 2, Ireland.
[May, Richard J.; Dymond, Simon] Swansea Univ, Swansea, W Glam, Wales.
[Whelan, Robert] Univ Coll Dublin, Belfield Dublin 4, Ireland.
RP Whelan, R (reprint author), Univ Coll Dublin, Dept Psychol, Belfield Dublin 4, Ireland.
EM whelanrob@gmail.com
RI Dymond, Simon/D-8503-2014
OI Dymond, Simon/0000-0003-1319-4492
FU Autism Speaks Treatment Grant [8049]
FX This research was partially supported by an Autism Speaks Treatment
Grant (#8049) awarded to Simon Dymond.
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NR 24
TC 1
Z9 1
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 JAN
PY 2014
VL 101
IS 1
BP 51
EP 60
DI 10.1002/jeab.66
PG 10
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA 290FM
UT WOS:000329739800005
PM 24338682
ER
PT J
AU Hayes, SC
Sanford, BT
AF Hayes, Steven C.
Sanford, Brandon T.
TI COOPERATION CAME FIRST: EVOLUTION AND HUMAN COGNITION
SO JOURNAL OF THE EXPERIMENTAL ANALYSIS OF BEHAVIOR
LA English
DT Article
DE relational frame theory; language; evolution; symmetry; cooperation;
eusociality
ID CHIMPANZEES PAN-TROGLODYTES; EQUIVALENCE CLASS FORMATION; AUTISM
SPECTRUM DISORDER; RELATIONAL FRAME-THEORY; TASTE-AVERSION; MEMORY
FORMATION; YOUNG-CHILDREN; SELECTION; LANGUAGE; COMPREHENSION
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RP Hayes, SC (reprint author), Univ Nevada, Dept Psychol 296, Reno, NV 89557 USA.
EM stevenchayes@gmail.com
RI Hayes, Steven/F-9306-2012
OI Hayes, Steven/0000-0003-4399-6859
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NR 147
TC 2
Z9 2
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 JAN
PY 2014
VL 101
IS 1
BP 112
EP 129
DI 10.1002/jeab.64
PG 18
WC Psychology, Biological; Behavioral Sciences; Psychology, Experimental
SC Psychology; Behavioral Sciences
GA 290FM
UT WOS:000329739800009
PM 24318964
ER
PT J
AU Feinberg, E
Augustyn, M
Fitzgerald, E
Sandler, J
Suarez, ZFC
Chen, N
Cabral, H
Beardslee, W
Silverstein, M
AF Feinberg, Emily
Augustyn, Marilyn
Fitzgerald, Elaine
Sandler, Jenna
Suarez, Zhandra Ferreira-Cesar
Chen, Ning
Cabral, Howard
Beardslee, William
Silverstein, Michael
TI Improving Maternal Mental Health After a Child's Diagnosis of Autism
Spectrum Disorder Results From a Randomized Clinical Trial
SO JAMA PEDIATRICS
LA English
DT Article
ID PARENTING STRESS INDEX; PROBLEM-SOLVING TREATMENT; HEAD-START
POPULATION; INNER-CITY CHILDREN; DEPRESSIVE SYMPTOMS; MINOR DEPRESSION;
YOUNG-CHILDREN; PRIMARY-CARE; SHORT FORM; FOLLOW-UP
AB IMPORTANCE The prevalence of psychological distress among mothers of children with autism spectrum disorder (ASD) suggests a need for interventions that address parental mental health during the critical period after the child's autism diagnosis when parents are learning to navigate the complex system of autism services.
OBJECTIVE To investigate whether a brief cognitive behavioral intervention, problem-solving education (PSE), decreases parenting stress and maternal depressive symptoms during the period immediately following a child's diagnosis of ASD.
DESIGN, SETTING, AND PARTICIPANTS A randomized clinical trial compared 6 sessions of PSE with usual care. Settings included an autism clinic and 6 community-based early intervention programs that primarily serve low-income families. Participants were mothers of 122 young children (mean age, 34 months) who recently received a diagnosis of ASD. Among mothers assessed for eligibility, 17.0% declined participation. We report outcomes after 3 months of follow-up (immediate postdiagnosis period).
INTERVENTIONS Problem-solving education is a brief, cognitive intervention delivered in six 30-minute individualized sessions by existing staff (early intervention programs) or research staff without formal mental health training (autism clinic).
MAIN OUTCOMES AND MEASURES Primary outcomes were parental stress and maternal depressive symptoms.
RESULTS Fifty-nine mothers were randomized to receive PSE and 63 to receive usual care. The follow-up rate was 91.0%. Most intervention mothers (78.0%) received the full PSE course. At the 3-month follow-up assessment, PSE mothers were significantly less likely than those serving as controls to have clinically significant parental stress (3.8% vs 29.3%; adjusted relative risk [ aRR], 0.17; 95% CI, 0.04 to 0.65). For depressive symptoms, the risk reduction in clinically significant symptoms did not reach statistical significance (5.7% vs 22.4%; aRR, 0.33; 95% CI, 0.10 to 1.08); however, the reduction in mean depressive symptoms was statistically significant (Quick Inventory of Depressive Symptomatology score, 4.6 with PSE vs 6.9 with usual care; adjusted mean difference, -1.67; 95% CI, -3.17 to -0.18).
CONCLUSIONS AND RELEVANCE The positive effects of PSE in reducing parenting stress and depressive symptoms during the critical postdiagnosis period, when parents are asked to navigate a complex service delivery system, suggest that it may have a place in clinical practice. Further work will monitor these families for a total of 9 months to determine the trajectory of outcomes.
C1 [Feinberg, Emily; Augustyn, Marilyn; Chen, Ning; Silverstein, Michael] Boston Univ, Sch Med, Dept Pediat, Boston, MA 02118 USA.
[Feinberg, Emily; Fitzgerald, Elaine; Suarez, Zhandra Ferreira-Cesar] Boston Univ, Sch Publ Hlth, Dept Community Hlth Sci, Boston, MA 02118 USA.
[Augustyn, Marilyn; Sandler, Jenna; Chen, Ning; Silverstein, Michael] Boston Med Ctr, Dept Pediat, Boston, MA USA.
[Fitzgerald, Elaine] Natl Initiat Childrens Healthcare Qual, Boston, MA USA.
[Cabral, Howard] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA.
[Beardslee, William] Childrens Hosp Boston, Dept Psychiat, Boston, MA USA.
RP Feinberg, E (reprint author), Boston Univ, Sch Publ Hlth, Crosstown Ctr, Dept Community Hlth Sci, Room 440,801 Massachusetts Ave, Boston, MA 02118 USA.
EM emfeinbe@bu.edu
FU Maternal and Child Health Bureau [R40MC15596]
FX This study was supported by grant R40MC15596 from the Maternal and Child
Health Bureau (Dr Feinberg).
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NR 44
TC 6
Z9 6
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 JAN
PY 2014
VL 168
IS 1
BP 40
EP 46
DI 10.1001/jamapediatrics.2013.3445
PG 7
WC Pediatrics
SC Pediatrics
GA 291RK
UT WOS:000329846600011
PM 24217336
ER
PT J
AU Williams, DM
Jarrold, C
Grainger, C
Lind, SE
AF Williams, David M.
Jarrold, Christopher
Grainger, Catherine
Lind, Sophie E.
TI Diminished Time-Based, but Undiminished Event-Based, Prospective Memory
Among Intellectually High-Functioning Adults With Autism Spectrum
Disorder: Relation to Working Memory Ability
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism; prospective memory; working memory; short-term memory (STM);
complex span
ID RETROSPECTIVE MEMORY; INDIVIDUAL-DIFFERENCES; QUESTIONNAIRE PRMQ;
EXECUTIVE CONTROL; ASPERGER SYNDROME; LATENT STRUCTURE; NORMATIVE DATA;
SHORT-TERM; CHILDREN; SPAN
AB Objective: Prospective memory (PM) is the ability to remember to carry out an intended action. Working memory is the ability to store information in mind while processing potentially distracting information. The few previous studies of PM in autism spectrum disorder (ASD) have yielded inconsistent findings. Studies of working memory ability in ASD have suggested a selective impairment of "visual working memory." However, it remains unclear whether any such impairment is the result of diminished (domain-specific; visual/verbal) storage capacity or diminished (domain-general) processing capacity. We aim to clarify these issues and explore the relation between PM and working memory in ASD. Method: Seventeen adults with ASD and 17 age-and IQ-matched comparison participants completed experimental measures of both event-based (perform action x when event y occurs) and time-based (perform action a at time b) PM, plus a self-report measure of PM skills. Participants also completed a working memory test battery. Results: Participants with ASD self-reported diminished PM skill, and showed diminished performance on the time-based, but not event-based, PM task. On the working memory test battery, visual but not verbal storage capacity was diminished among participants with ASD, as was processing ability. Whereas visual storage was associated with event-based PM task performance among comparison participants, verbal storage was associated among ASD participants. Conclusions: ASD appears to involve a selective deficit in time-based PM and a selective difficulty with aspects of working memory that depend on the storage of visual information. However, event-based PM may be achieved through compensatory strategies in ASD.
C1 [Williams, David M.; Grainger, Catherine; Lind, Sophie E.] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
[Jarrold, Christopher] Univ Bristol, Sch Expt Psychol, Bristol, Avon, England.
RP Williams, DM (reprint author), Univ Kent, Keynes Coll, Sch Psychol, Canterbury CT2 7NP, Kent, England.
EM d.m.williams@kent.ac.uk
FU Economic and Social Research Council United Kingdom [RES-000-22-4125,
RES-062-23-2192]; American Psychological Association; National Autistic
Society; Durham University Service for Students with Disabilities
FX This study was funded by an Economic and Social Research Council United
Kingdom Grant awarded to David M. Williams and Christopher Jarrold
(RES-000-22-4125). Sophie E. Lind was supported by an Economic and
Social Research Council United Kingdom Grant (RES-062-23-2192). This
article has been published under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/3.0/), which
permits unrestricted use, distribution, and reproduction in any medium,
provided the original author and source are credited. Copyright for this
article is retained by the author(s). Author(s) grant(s) the American
Psychological Association the exclusive right to publish the article and
identify itself as the original publisher. Sincere thanks to all of the
participants who took part in this study. Without their support, this
research would not have been possible. Thanks also to the National
Autistic Society and to Durham University Service for Students with
Disabilities for their support with participant recruitment. Finally,
thanks to Anna Peel for her assistance with data collection.
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World Health Organization, 1993, INT CLASS MENT BEH D
NR 62
TC 3
Z9 3
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 JAN
PY 2014
VL 28
IS 1
BP 30
EP 42
DI 10.1037/neu0000008
PG 13
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA 281RO
UT WOS:000329118900004
PM 24128041
ER
PT J
AU Lind, SE
Williams, DM
Bowler, DM
Peel, A
AF Lind, Sophie E.
Williams, David M.
Bowler, Dermot M.
Peel, Anna
TI Episodic Memory and Episodic Future Thinking Impairments in
High-Functioning Autism Spectrum Disorder: An Underlying Difficulty With
Scene Construction or Self-Projection?
SO NEUROPSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; episodic memory; episodic future thinking;
scene construction; self-projection
ID AUTOBIOGRAPHICAL MEMORY; AUTONOETIC CONSCIOUSNESS; ASPERGERS-SYNDROME;
CHILDREN; MIND; ADULTS; ABILITY; BRAIN; SPECIFICITY; EXPERIENCE
AB Objective: There appears to be a common network of brain regions that underlie the ability to recall past personal experiences (episodic memory) and the ability to imagine possible future personal experiences (episodic future thinking). At the cognitive level, these abilities are thought to rely on "scene construction" (the ability to bind together multimodal elements of a scene in mind-dependent on hippocampal functioning) and temporal "self-projection" (the ability to mentally project oneself through time-dependent on prefrontal cortex functioning). Although autism spectrum disorder (ASD) is characterized by diminished episodic memory, it is unclear whether episodic future thinking is correspondingly impaired. Moreover, the underlying basis of such impairments (difficulties with scene construction, self-projection, or both) is yet to be established. The current study therefore aimed to elucidate these issues. Method: Twenty-seven intellectually high-functioning adults with ASD and 29 age-and IQ-matched neurotypical comparison adults were asked to describe (a) imagined atemporal, non-self-relevant fictitious scenes (assessing scene construction), (b) imagined plausible self-relevant future episodes (assessing episodic future thinking), and (c) recalled personally experienced past episodes (assessing episodic memory). Tests of narrative ability and theory of mind were also completed. Results: Performances of participants with ASD were significantly and equally diminished in each condition and, crucially, this diminution was independent of general narrative ability. Conclusions: Given that participants with ASD were impaired in the fictitious scene condition, which does not involve self-projection, we suggest the underlying difficulty with episodic memory/future thinking is one of scene construction.
C1 [Lind, Sophie E.; Williams, David M.; Peel, Anna] Univ Durham, Dept Psychol, Durham DH1 3HP, England.
[Lind, Sophie E.; Bowler, Dermot M.] City Univ London, Dept Psychol, London EC1R 0JD, England.
RP Lind, SE (reprint author), City Univ London, Dept Psychol, Whiskin St, London EC1R 0JD, England.
EM Sophie.lind.2@city.ac.uk
FU Economic and Social Research Council UK [RES-062-23-2192,
RES-000-22-4125]; American Psychological Association
FX This study was funded by an Economic and Social Research Council UK
Grant awarded to Sophie Lind and Dermot Bowler (RES-062-23-2192). David
Williams was supported by an Economic and Social Research Council UK
Grant (RES-000-22-4125). This article has been published under the terms
of the Creative Commons Attribution License
(http://creativecommons.org/licenses/by/3.0/) which permits unrestricted
use, distribution, and reproduction in any medium, provided the original
author and source are credited. Copyright for this article is retained
by the author(s). Author(s) grant(s) the American Psychological
Association the exclusive right to publish the article and identify
itself as the original publisher. Sincere thanks to all of the
participants who took part in this study. Without their support, this
research would not have been possible. Thanks also to the National
Autistic Society and to Durham University Service for Students with
Disabilities for their support with participant recruitment. Thanks to
Western Psychological Services for giving us permission to use the
prepublication version of the Social Responsiveness Scale, Second
Edition. Finally, thanks to Catherine Grainger, Heather Payne, and Fiona
McKee for their assistance in conducting the study, transcribing audio
files, and coding the data. Some of the results reported in this
manuscript were presented at the International Meeting for Autism
Research (May 2013) in Donostia/San Sebastian, Basque Country/Spain.
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NR 55
TC 9
Z9 9
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 JAN
PY 2014
VL 28
IS 1
BP 55
EP 67
DI 10.1037/neu0000005
PG 13
WC Psychology, Clinical; Neurosciences; Psychology
SC Psychology; Neurosciences & Neurology
GA 281RO
UT WOS:000329118900006
PM 24015827
ER
PT J
AU Reyna, VF
Chick, CF
Corbin, JC
Hsia, AN
AF Reyna, Valerie F.
Chick, Christina F.
Corbin, Jonathan C.
Hsia, Andrew N.
TI Developmental Reversals in Risky Decision Making: Intelligence Agents
Show Larger Decision Biases Than College Students
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE decision making; risk taking
ID FUZZY-TRACE THEORY; YOUNG-CHILDREN; ADULTS; RATIONALITY; PROBABILITY;
PREFERENCES; COMPETENCE; THINKING; CHOICE; AUTISM
AB Intelligence agents make risky decisions routinely, with serious consequences for national security. Although common sense and most theories imply that experienced intelligence professionals should be less prone to irrational inconsistencies than college students, we show the opposite. Moreover, the growth of experience-based intuition predicts this developmental reversal. We presented intelligence agents, college students, and postcollege adults with 30 risky-choice problems in gain and loss frames and then compared the three groups' decisions. The agents not only exhibited larger framing biases than the students, but also were more confident in their decisions. The postcollege adults (who were selected to be similar to the students) occupied an interesting middle ground, being generally as biased as the students (sometimes more biased) but less biased than the agents. An experimental manipulation testing an explanation for these effects, derived from fuzzy-trace theory, made the students look as biased as the agents. These results show that, although framing biases are irrational (because equivalent outcomes are treated differently), they are the ironical output of cognitively advanced mechanisms of meaning making.
C1 [Reyna, Valerie F.; Chick, Christina F.; Corbin, Jonathan C.; Hsia, Andrew N.] Cornell Univ, Dept Human Dev, Ithaca, NY 14853 USA.
RP Reyna, VF (reprint author), Cornell Univ, Human Neurosci Inst, B44,Martha Van Rensselaer Hall, Ithaca, NY 14853 USA.
EM vr53@cornell.edu
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NR 41
TC 11
Z9 13
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 JAN
PY 2014
VL 25
IS 1
BP 76
EP 84
DI 10.1177/0956797613497022
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA 286RL
UT WOS:000329486300008
PM 24171931
ER
PT J
AU Drahota, A
Stadnick, N
Brookman-Frazee, L
AF Drahota, Amy
Stadnick, Nicole
Brookman-Frazee, Lauren
TI Therapist Perspectives on Training in a Package of Evidence-Based
Practice Strategies for Children with Autism Spectrum Disorders Served
in Community Mental Health Clinics
SO ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES
RESEARCH
LA English
DT Article
DE Therapist perspectives; Evidence-based practice; Autism spectrum
disorders; Community mental health clinics; Challenging behaviors
ID DISRUPTIVE BEHAVIOR PROBLEMS; PSYCHOTHERAPY; ATTITUDES; SERVICES;
PRACTITIONERS; CONTEXT; YOUTH
AB Therapist perspectives regarding delivery of evidence-based practice (EBP) strategies are needed to understand the feasibility of implementation in routine service settings. This qualitative study examined the perspectives of 13 therapists receiving training and delivering a package of EBPs to children with autism spectrum disorders (ASDs) in community mental health clinics. Therapists perceived the training and intervention delivery as effective at improving their clinical skills, the psychotherapy process, and child and family outcomes. Results expand parent pilot study findings, and add to the literature on training community providers and limited research on training providers to deliver EBPs to children with ASD.
C1 [Drahota, Amy] San Diego State Univ, Dept Psychol, San Diego, CA 92182 USA.
[Drahota, Amy; Stadnick, Nicole; Brookman-Frazee, Lauren] Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, San Diego, CA 92123 USA.
[Stadnick, Nicole] Univ Calif San Diego, San Diego State Univ, Joint Doctoral Program Clin Psychol, San Diego, CA 92103 USA.
[Brookman-Frazee, Lauren] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA.
RP Drahota, A (reprint author), Rady Childrens Hosp San Diego, Child & Adolescent Serv Res Ctr, 3020 Childrens Way MC 5033, San Diego, CA 92123 USA.
EM adrahota@casrc.org
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 43
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0894-587X
EI 1573-3289
J9 ADM POLICY MENT HLTH
JI Adm. Policy. Ment. Health
PD JAN
PY 2014
VL 41
IS 1
SI SI
BP 114
EP 125
DI 10.1007/s10488-012-0441-9
PG 12
WC Health Policy & Services; Public, Environmental & Occupational Health
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health
GA 283CG
UT WOS:000329221700012
PM 23086499
ER
PT J
AU Bartlett, CW
Hou, LP
Flax, JF
Hare, A
Cheong, SY
Fermano, Z
Zimmerman-Bier, B
Cartwright, C
Azaro, MA
Buyske, S
Brzustowicz, LM
AF Bartlett, Christopher W.
Hou, Liping
Flax, Judy F.
Hare, Abby
Cheong, Soo Yeon
Fermano, Zena
Zimmerman-Bier, Barbie
Cartwright, Charles
Azaro, Marco A.
Buyske, Steven
Brzustowicz, Linda M.
TI A Genome Scan for Loci Shared by Autism Spectrum Disorder and Language
Impairment
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID SOCIAL RESPONSIVENESS SCALE; OBSESSIVE-COMPULSIVE SCALE; DE-NOVO
MUTATIONS; PERVASIVE DEVELOPMENTAL DISORDERS; QUANTITATIVE TRAIT LOCUS;
DIAGNOSTIC INTERVIEW; SUSCEPTIBILITY GENE; LINKAGE; CHROMOSOME-2;
ASSOCIATION
AB Objective: The authors conducted a genetic linkage study of families that have both autism spectrum disorder (ASD) and language-impaired probands to find common communication impairment loci. The hypothesis was that these families have a high genetic loading for impairments in language ability, thus influencing the language and communication deficits of the family members with ASD. Comprehensive behavioral phenotyping of the families also enabled linkage analysis of quantitative measures, including normal, subclinical, and disordered variation in all family members for the three general autism symptom domains: social, communication, and compulsive behaviors.
Method: The primary linkage analysis coded persons with either ASD or specific language impairment as "affected." The secondary linkage analysis consisted of quantitative metrics of autism-associated behaviors capturing normal to clinically severe variation, measured in all family members.
Results: Linkage to language phenotypes was established at two novel chromosomal loci, 15q23-26 and 16p12. The secondary analysis of normal and disordered quantitative variation in social and compulsive, behaviors established linkage to two loci for social behaviors (at 14q and 15q) and one locus for repetitive behaviors (at 13q).
Conclusion: These data indicate shared etiology of ASD and specific language impairment at two novel loci. Additionally, non-language phenotypes based on social aloofness and rigid personality traits showed compelling evidence for linkage in this study group. Further genetic mapping is warranted at these loci.
C1 [Brzustowicz, Linda M.] Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Battelle Ctr Math Med, Columbus, OH 43210 USA.
Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
Rutgers State Univ, Human Genet Inst New Jersey, Dept Genet, Piscataway, NJ USA.
Rutgers State Univ, Dept Stat & Biostat, Piscataway, NJ USA.
St Peters Univ Hosp, Dept Pediat, New Brunswick, NJ USA.
Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Psychiat, Newark, NJ 07103 USA.
RP Brzustowicz, LM (reprint author), Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Battelle Ctr Math Med, Columbus, OH 43210 USA.
EM brzustowicz@biology.rutgers.edu
RI Bartlett, Christopher/B-4958-2009; Hou, Liping/G-1648-2011
OI Bartlett, Christopher/0000-0001-7837-6348; Hou,
Liping/0000-0003-3972-245X
FU NIMH [R01 MH-070366, RC1 MH-088288]; NIMH Center for Collaborative
Genomic Studies on Mental Disorders; Ohio Supercomputer Center
[PCCR0001-2]; [U24 MH-068457]
FX Supported by NIMH grants R01 MH-070366 and RC1 MH-088288 to Dr.
Brzustowicz; by the NIMH Center for Collaborative Genomic Studies on
Mental Disorders, funded by U24 MH-068457; and by computing time from
Ohio Supercomputer Center grant PCCR0001-2 to Dr. Bartlett.
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Steele MM, 2001, J AUTISM DEV DISORD, V31, P231, DOI 10.1023/A:1010759401344
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NR 46
TC 4
Z9 4
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 JAN
PY 2014
VL 171
IS 1
BP 72
EP 81
DI 10.1176/appi.ajp.2013.12081103
PG 10
WC Psychiatry
SC Psychiatry
GA 286OO
UT WOS:000329478800014
PM 24170272
ER
PT J
AU Stobbe, G
Liu, YJ
Wu, R
Hudgings, LH
Thompson, O
Hisama, FM
AF Stobbe, Gary
Liu, Yajuan
Wu, Rebecca
Hudgings, Laura Heath
Thompson, Owen
Hisama, Fuki M.
TI Diagnostic yield of array comparative genomic hybridization in adults
with autism spectrum disorders
SO GENETICS IN MEDICINE
LA English
DT Article
DE adult; array comparative genomic hybridization; autism; genetic testing;
pervasive developmental disorders
ID KRUPPEL-LIKE FACTOR-8; COPY NUMBER VARIANTS; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; MELATONIN PATHWAY; PROTEIN; GENE; MICRODUPLICATION;
IDENTIFICATION; TRANSCRIPTION
AB Purpose: Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.
Methods: We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.
Results: The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.
Conclusion: Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.
C1 [Stobbe, Gary; Hisama, Fuki M.] Univ Washington, Dept Neurol, Seattle, WA 98195 USA.
[Stobbe, Gary] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Liu, Yajuan] Univ Washington, Dept Pathol, Seattle, WA 98195 USA.
[Wu, Rebecca] Univ Washington, Dept Neurobiol, Seattle, WA 98195 USA.
[Hudgings, Laura Heath] Univ Washington, Dept Family Med, Seattle, WA 98195 USA.
[Thompson, Owen] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Hisama, Fuki M.] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA.
RP Hisama, FM (reprint author), Univ Washington, Dept Neurol, Seattle, WA 98195 USA.
EM fmh2@u.washington.edu
CR Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
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NR 40
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1098-3600
EI 1530-0366
J9 GENET MED
JI Genet. Med.
PD JAN
PY 2014
VL 16
IS 1
BP 70
EP 77
DI 10.1038/gim.2013.78
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA 284GO
UT WOS:000329304300010
PM 23765050
ER
PT J
AU Shea, L
Newschaffer, CJ
Xie, M
Myers, SM
Mandell, DS
AF Shea, Lindsay
Newschaffer, Craig J.
Xie, Ming
Myers, Scott M.
Mandell, David S.
TI Genetic testing and genetic counseling among medicaid-enrolled children
with autism spectrum disorder in 2001 and 2007
SO HUMAN GENETICS
LA English
DT Article
ID CHROMOSOMAL MICROARRAY; DEVELOPMENTAL DELAY; GENOMIC HYBRIDIZATION;
CLINICAL-IMPLICATIONS; ETHNIC DISPARITIES; MENTAL-HEALTH; DIAGNOSIS;
DISABILITIES; INDIVIDUALS; RECURRENCE
AB The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.
C1 [Shea, Lindsay; Newschaffer, Craig J.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
[Xie, Ming; Mandell, David S.] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA.
[Myers, Scott M.] Geisinger Hlth Syst, Danville, PA 17822 USA.
[Mandell, David S.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
RP Shea, L (reprint author), Drexel Univ, AJ Drexel Autism Inst, 3020 Market St,Suite 560, Philadelphia, PA 19104 USA.
EM ljl42@drexel.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 46
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6717
EI 1432-1203
J9 HUM GENET
JI Hum. Genet.
PD JAN
PY 2014
VL 133
IS 1
BP 111
EP 116
DI 10.1007/s00439-013-1362-8
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 283KH
UT WOS:000329244500009
PM 24036677
ER
PT J
AU Wong, VCN
Fung, CKY
Wong, PTY
AF Wong, Virginia C. N.
Fung, Cecilia K. Y.
Wong, Polly T. Y.
TI Use of Dysmorphology for Subgroup Classification on Autism Spectrum
Disorder in Chinese Children
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Dysmorphology; Subgroup classification
ID LANGUAGE; SUBTYPES; GENES
AB Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history and recurrence of ASD were not found to be significantly different between group statuses. It is suggested that results collected from the Chinese population generally resembles that found in the Caucasians with ethnical differences still present. Current study supports the result shown in Miles' study (Miles et al. in Am J Med Genet 135A:171-180, 2005), in which heterogeneity subtypes of autism of different genetic origins which could be distinguished by presence of dysmorphic features on the patients.
C1 [Wong, Virginia C. N.; Fung, Cecilia K. Y.; Wong, Polly T. Y.] Univ Hong Kong, Dept Pediat & Adolescent Med, Div Child Neurol Dev Paediat Neurohabilitat, Hong Kong, Hong Kong, Peoples R China.
[Wong, Virginia C. N.; Fung, Cecilia K. Y.; Wong, Polly T. Y.] Univ Hong Kong, Dept Pediat & Adolescent Med, Div Neurodev Paediat, Hong Kong, Hong Kong, Peoples R China.
RP Wong, VCN (reprint author), Univ Hong Kong, Dept Pediat & Adolescent Med, Div Child Neurol Dev Paediat Neurohabilitat, Hong Kong, Hong Kong, Peoples R China.
EM vcnwong@hku.hk; ceceky@gmail.com; pollywongty@hku.hk
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
Bauman M. L., 2004, NEUROBIOLOGY AUTISM
Census and Statistics Department in Hong Kong, 2008, 48 CENS STAT DEP HON
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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 JAN
PY 2014
VL 44
IS 1
BP 9
EP 18
DI 10.1007/s10803-013-1846-3
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000002
PM 23666520
ER
PT J
AU Taylor, LJ
Maybery, MT
Grayndler, L
Whitehouse, AJO
AF Taylor, Lauren J.
Maybery, Murray T.
Grayndler, Luke
Whitehouse, Andrew J. O.
TI Evidence for Distinct Cognitive Profiles in Autism Spectrum Disorders
and Specific Language Impairment
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive phenotype; Specific language impairment; Aetiological overlap
ID HIGH-FUNCTIONING AUTISM; WEAK CENTRAL COHERENCE; SCHOOL-AGE-CHILDREN;
NON-WORD REPETITION; EARLY ADULT LIFE; DISEMBEDDING PERFORMANCE;
PSYCHOLINGUISTIC MARKERS; DEVELOPMENTAL DISORDERS; LINGUISTIC ABILITIES;
NONWORD REPETITION
AB Findings that a subgroup of children with an autism spectrum disorder (ASD) have linguistic capabilities that resemble specific language impairment (SLI) have led some authors to hypothesise that ASD and SLI have a shared aetiology. While considerable research has explored overlap in the language phenotypes of the two conditions, little research has examined possible overlap in cognitive characteristics. In this study, we explored nonword and sentence repetition performance, as well as performance on the Children's Embedded Figures Test (CEFT) for children with ASD or SLI. As expected, 'language impaired' children with ASD (ALI) and children with SLI performed worse than both 'language normal' ASD (ALN) and typically developing (TD) children on the nonword and sentence repetition tests. Further, the SLI children performed worse than all other groups on the CEFT. This finding supports distinct cognitive profiles in ASD and SLI and may provide further evidence for distinct aetiological mechanisms in the two conditions.
C1 [Taylor, Lauren J.; Maybery, Murray T.; Whitehouse, Andrew J. O.] Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, Crawley, WA 6009, Australia.
[Taylor, Lauren J.; Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
[Grayndler, Luke] CHILD Assoc, Glenleighden Sch, Brisbane, Qld, Australia.
RP Taylor, LJ (reprint author), Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM 10412336@student.uwa.edu.au
RI Maybery, Murray/H-5390-2014
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NR 92
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 JAN
PY 2014
VL 44
IS 1
BP 19
EP 30
DI 10.1007/s10803-013-1847-2
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000003
PM 23670577
ER
PT J
AU Russell, G
Rodgers, LR
Ukoumunne, OC
Ford, T
AF Russell, Ginny
Rodgers, Lauren R.
Ukoumunne, Obioha C.
Ford, Tamsin
TI Prevalence of Parent-Reported ASD and ADHD in the UK: Findings from the
Millennium Cohort Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Attention deficit hyperactivity disorder; Autism; Prevalence;
Co-morbidity; Pervasive developmental disorder; Autism spectrum disorder
ID AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT HYPERACTIVITY DISORDER; MATERNAL MENTAL-HEALTH;
PSYCHIATRIC-DISORDERS; COMMUNITY SAMPLE; CHILDREN; AGE; DIAGNOSIS; RISK
AB The UK prevalence of parent-reported autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) were estimated from the Millennium Cohort Study. Case definition was if a doctor or health care professional had ever told parents that their child had ASD and/or ADHD. Data were collected in 2008/2009 for 14,043 children. 1.7 % of children were reported as having ASD (95 % CI 1.4-2.0) at mean age 7.2 years (SD = 0.2; range = 6.3-8.2). 1.4 % reportedly had ADHD (95 % CI 1.2-1.7), and 0.3 % had both ASD and ADHD (95 % CI 0.2-0.5). After adjusting for socio-economic disadvantage, only male sex (p < 0.001 for both conditions) and cognitive ability, p = 0.004 (ASD); p = 0.01 (ADHD) remained strongly associated. The observed prevalence of parent-reported ASD is high compared to earlier UK and US estimates. Parent-reported ADHD is low compared to US estimates using the same measure.
C1 [Russell, Ginny; Rodgers, Lauren R.; Ukoumunne, Obioha C.; Ford, Tamsin] Univ Exeter, Sch Med, NIHR CLAHRC South West Peninsula PenCLAHRC, Exeter, Devon, England.
RP Russell, G (reprint author), Veysey Bldg,Salmon Pool Lane, Exeter EX2 4SG, Devon, England.
EM g.russell@ex.ac.uk
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NR 53
TC 11
Z9 11
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 JAN
PY 2014
VL 44
IS 1
BP 31
EP 40
DI 10.1007/s10803-013-1849-0
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000004
PM 23719853
ER
PT J
AU Miltenberger, CA
Charlop, MH
AF Miltenberger, Catherine A.
Charlop, Marjorie H.
TI Increasing the Athletic Group Play of Children with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Interactive play; Motor skills; Speech
ID TEACHING-CHILDREN; PLAYGROUND GAMES; YOUNG-CHILDREN; SYMBOLIC PLAY;
PRETEND PLAY; SKILLS; INTERVENTIONS; PRESCHOOLERS; SCHOOL
AB A multiple baseline design across three children with autism and within child across activity was used to assess the effects of interventions designed to teach children with autism to play two common athletic group games, handball and 4-square. Treatment consisted of two phases. In Phase I, athletic skills training, the children participated in sessions designed facilitate their acquisition of the athletic skills required by the targeted games. During Phase II, rules training, the children were instructed on the rules of the targeted games. Mastering the athletic skills and participating in rules training resulted in increased athletic group play and concomitant increases in speech. These gains were maintained at 8-16 weeks follow-up. However, generalization to participation in school recess activities did not occur.
C1 [Miltenberger, Catherine A.] Claremont Grad Univ, Claremont, CA 91711 USA.
[Charlop, Marjorie H.] Claremont McKenna Coll, Claremont, CA 91711 USA.
RP Charlop, MH (reprint author), Claremont McKenna Coll, 850 Columbia Ave, Claremont, CA 91711 USA.
EM mcharlop@cmc.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT, P69
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NR 35
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 JAN
PY 2014
VL 44
IS 1
BP 41
EP 54
DI 10.1007/s10803-013-1850-7
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000005
PM 23700189
ER
PT J
AU Murray, AL
Booth, T
McKenzie, K
Kuenssberg, R
O'Donnell, M
AF Murray, Aja L.
Booth, Tom
McKenzie, Karen
Kuenssberg, Renate
O'Donnell, Michael
TI Are Autistic Traits Measured Equivalently in Individuals With and
Without An Autism Spectrum Disorder? An Invariance Analysis of the
Autism Spectrum Quotient Short Form
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autistic traits; Measurement invariance; Confirmatory factor
analysis; Autism spectrum quotient
ID TESTING MEASUREMENT INVARIANCE; FUNCTIONING AUTISM; FIT INDEXES; AQ;
VALIDATION; CRITERIA; VERSION; MODELS
AB It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent to which measures of autistic traits actually measure the same traits in the same way across those with and without an ASD. We addressed this question using a multi-group confirmatory factor invariance analysis of the Autism Quotient Short Form (AQ-S: Hoekstra et al. in J Autism Dev Disord 41(5):589-596, 2011) across those with (n = 148) and without (n = 168) ASD. Metric variance (equality of factor loadings), but not scalar invariance (equality of thresholds), held suggesting that the AQ-S measures the same latent traits in both groups, but with a bias in the manner in which trait levels are estimated. We, therefore, argue that the AQ-S can be used to investigate possible causes and consequences of autistic traits in both groups separately, but caution is due when combining or comparing levels of autistic traits across the two groups.
C1 [Murray, Aja L.; Booth, Tom] Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[McKenzie, Karen] Univ Edinburgh, Dept Clin Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
[Kuenssberg, Renate] NHS Fife, Kirkcaldy, Scotland.
[O'Donnell, Michael] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland.
RP Murray, AL (reprint author), Univ Edinburgh, Dept Psychol, Ctr Cognit Ageing & Cognit Epidemiol, 7 George Sq, Edinburgh EH8 9JZ, Midlothian, Scotland.
EM s0785823@sms.ed.ac.uk
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Yu C. Y., 2002, THESIS U CALIFORNIA
NR 35
TC 4
Z9 4
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 JAN
PY 2014
VL 44
IS 1
BP 55
EP 64
DI 10.1007/s10803-013-1851-6
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000006
PM 23695223
ER
PT J
AU Dickson, CA
MacDonald, RPF
Mansfield, R
Guilhardi, P
Johnson, C
Ahearn, WH
AF Dickson, Chata A.
MacDonald, Rebecca P. F.
Mansfield, Renee
Guilhardi, Paulo
Johnson, Cammarie
Ahearn, William H.
TI Social Validation of the New England Center for Children-Core Skills
Assessment
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Assessment; Social validation; Foundational skills; Goal
selection; Evidence-based practices
ID INTENSIVE BEHAVIORAL INTERVENTION; AUTISM; VALIDITY
AB We investigated the social validity of the NECC Core Skills Assessment (NECC-CSA) with parents and professionals as participants. The NECC-CSA is a measurement tool consisting of direct and indirect measures of skills important to all individuals with autism, across the lifespan. Participants (N = 245) were provided with a list of 66 skills, 47 of which were Core Skills from the NECC-CSA, and were asked to indicate which items they considered to be foundational. Participants endorsed items from the NECC-CSA as foundational skills, more than they endorsed the other items. Differences between parents and professionals are described and detailed with respect to individual assessment items. The NECC-CSA consists of socially validated skills that can be taken as a starting point for programs of instruction for individuals with ASDs.
C1 [Dickson, Chata A.; MacDonald, Rebecca P. F.; Mansfield, Renee; Guilhardi, Paulo; Johnson, Cammarie; Ahearn, William H.] New England Ctr Children, Southborough, MA 01772 USA.
[Dickson, Chata A.; MacDonald, Rebecca P. F.; Ahearn, William H.] Western New England Univ, Springfield, MA 01119 USA.
RP Dickson, CA (reprint author), New England Ctr Children, 33 Turnpike Rd, Southborough, MA 01772 USA.
EM cdickson@necc.org
CR Callahan K, 2008, J AUTISM DEV DISORD, V38, P678, DOI 10.1007/s10803-007-0434-9
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NR 18
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 JAN
PY 2014
VL 44
IS 1
BP 65
EP 74
DI 10.1007/s10803-013-1852-5
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000007
PM 23719854
ER
PT J
AU Tek, S
Mesite, L
Fein, D
Naigles, L
AF Tek, Saime
Mesite, Laura
Fein, Deborah
Naigles, Letitia
TI Longitudinal Analyses of Expressive Language Development Reveal Two
Distinct Language Profiles Among Young Children with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Language acquisition; Morphology and syntax
ID GRAMMATICAL MORPHEMES; WH-QUESTIONS; IMPAIRMENT; COMMUNICATION;
ACQUISITION; PHENOTYPES; SKILLS; SHOW
AB Although children with Autism spectrum disorders (ASD) show significant variation in language skills, research on what type(s) of language profiles they demonstrate has been limited. Using growth-curve analyses, we investigated how different groups of young children with ASD show increases in the size of their lexicon, morpho-syntactic production as measured by Brown's 14 grammatical morphemes, and wh-question complexity, compared to TD children, across six time points. Children with ASD who had higher verbal skills were comparable to TD children on most language measures, whereas the children with ASD who had low verbal skills had flatter trajectories in most language measures. Thus, two distinct language profiles emerged for children with ASD.
C1 [Tek, Saime] Bilkent Univ, Dept Psychol, TR-06800 Ankara, Turkey.
[Mesite, Laura] Brown Univ, Providence, RI 02912 USA.
[Fein, Deborah; Naigles, Letitia] Univ Connecticut, Storrs, CT 06269 USA.
RP Tek, S (reprint author), Bilkent Univ, Dept Psychol, TR-06800 Ankara, Turkey.
EM teksaime@gmail.com
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 48
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 JAN
PY 2014
VL 44
IS 1
BP 75
EP 89
DI 10.1007/s10803-013-1853-4
PG 15
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000008
PM 23719855
ER
PT J
AU Jansch, C
Hare, DJ
AF Jaensch, Claire
Hare, Dougal Julian
TI An Investigation of the "Jumping to Conclusions" Data-Gathering Bias and
Paranoid Thoughts in Asperger Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Reasoning biases; Jumping to conclusions; Asperger syndrome; Anxiety;
Depressions; Paranoia
ID DELUSION-PRONE INDIVIDUALS; PERSECUTORY DELUSIONS; FUNCTIONING AUTISM;
TO-CONCLUSIONS; INFERENCE TASK; DISORDER; BELIEFS; PEOPLE; ADULTS;
SCHIZOPHRENIA
AB The existence of a data-gathering bias, in the form of jumping to conclusions, and links to paranoid ideation was investigated in Asperger syndrome (AS). People with AS (N = 30) were compared to a neurotypical control group (N = 30) on the Reading the Mind in the Eyes and the Beads tasks, with self-report measures of depression, general anxiety, social anxiety, self-consciousness and paranoid ideation. The AS group performed less well than the control group on the Reading the Mind in the Eyes Task with regard to accuracy but responded more quickly and tended to make decisions on the basis of less evidence on the Beads Task with 50 % demonstrating a clear 'jumping to conclusions bias', whereas none of the control group showed such a bias. Depression and general anxiety were associated with paranoid ideation but not data-gathering style, which was contrary to expectation.
C1 [Jaensch, Claire; Hare, Dougal Julian] Univ Manchester, Sch Psychol Sci, Manchester M13 9PL, Lancs, England.
RP Hare, DJ (reprint author), Univ Manchester, Sch Psychol Sci, Zochonis Bldg,Brunswick St, Manchester M13 9PL, Lancs, England.
EM dougal.hare@manchester.ac.uk
RI Nagra, Sasha/I-8863-2014
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NR 66
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 JAN
PY 2014
VL 44
IS 1
BP 111
EP 119
DI 10.1007/s10803-013-1855-2
PG 9
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000010
PM 23933997
ER
PT J
AU Ouellette-Kuntz, H
Coo, H
Lam, M
Breitenbach, MM
Hennessey, PE
Jackman, PD
Lewis, MES
Dewey, D
Bernier, FP
Chung, AM
AF Ouellette-Kuntz, Helene
Coo, Helen
Lam, Miu
Breitenbach, Marlene M.
Hennessey, Paula E.
Jackman, Paulette D.
Lewis, M. E. Suzanne
Dewey, Deborah
Bernier, Francois P.
Chung, Amy M.
TI The changing prevalence of autism in three regions of Canada
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Surveillance; Canada; NEDSAC
ID SPECTRUM DISORDERS; BEHAVIORAL INTERVENTION; AGE; DIAGNOSIS; CHILDREN;
RATES; EPIDEMIOLOGY; REGRESSION; TAIWAN; HEALTH
AB In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started capturing information on children diagnosed with autism in different regions of the country. Based on data collected through 2008 in Newfoundland and Labrador and 2010 in Prince Edward Island and Southeastern Ontario, the estimated average annual percent increases in prevalence among children 2-14 years of age ranged from 9.7 % (95 % CI 7.8-11.6) to 14.6 % (95 % CI 11.3-18.0). Differential in-migration and identification of previously undetected cases may have contributed in part to the increases observed, but we cannot rule out the possibility of a true increase in incidence, particularly given the lack of a leveling-off of prevalence among the 6- to 9-year olds.
C1 [Ouellette-Kuntz, Helene; Coo, Helen; Lam, Miu] Queens Univ, Dept Publ Hlth Sci, Kingston, ON K7L 3N6, Canada.
[Ouellette-Kuntz, Helene; Coo, Helen; Lewis, M. E. Suzanne; Dewey, Deborah; Bernier, Francois P.] ASD CARC, Kingston, ON K7M 8A6, Canada.
[Ouellette-Kuntz, Helene] Ongwanada Resource Ctr, Kingston, ON K7M 8A6, Canada.
[Breitenbach, Marlene M.] Dept Educ & Early Childhood Dev, Summerside, PE C1N 1B6, Canada.
[Hennessey, Paula E.] Dept Hlth & Community Serv, St John, NF A1B 4J6, Canada.
[Lewis, M. E. Suzanne] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada.
[Lewis, M. E. Suzanne] Univ British Columbia, Childrens & Womens Hlth Ctr BC, Vancouver, BC V6H 3N1, Canada.
[Dewey, Deborah] Univ Calgary, Dept Pediat, Calgary, AB T2N 4Z6, Canada.
[Dewey, Deborah] Univ Calgary, Dept Community Hlth Sci, Calgary, AB T2N 4Z6, Canada.
[Dewey, Deborah] Alberta Childrens Prov Gen Hosp, Behav Res Unit, Calgary, AB T3B 6A8, Canada.
[Bernier, Francois P.] Univ Calgary, Dept Med Genet, Calgary, AB T2N 4N1, Canada.
[Chung, Amy M.] Queens Univ, Dept Community Hlth & Epidemiol, Kingston, ON K7L 3N6, Canada.
RP Ouellette-Kuntz, H (reprint author), Queens Univ, Dept Publ Hlth Sci, Carruthers Hall, Kingston, ON K7L 3N6, Canada.
EM helene.kuntz@queensu.ca
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Autism and Developmental Disabilities Monitoring Network Surveillance Year, 2007, MMWR SURVEILL SUMM, V56, P12
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NR 38
TC 4
Z9 4
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 JAN
PY 2014
VL 44
IS 1
BP 120
EP 136
DI 10.1007/s10803-013-1856-1
PG 17
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000011
PM 23771514
ER
PT J
AU Moseley, RL
Pulvermuller, F
Mohr, B
Lombardo, MV
Baron-Cohen, S
Shtyrov, Y
AF Moseley, Rachel L.
Pulvermueller, Friedemann
Mohr, Bettina
Lombardo, Michael V.
Baron-Cohen, Simon
Shtyrov, Yury
TI Brain Routes for Reading in Adults with and without Autism: EMEG
Evidence
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Reading; Dual-route model; Hyperlexia; Semantics; EEG; MEG
ID HIGH-FUNCTIONING AUTISM; INFERIOR PREFRONTAL CORTEX; VISUAL WORD
RECOGNITION; LONG-TERM-MEMORY; SPECTRUM DISORDERS; YOUNG-CHILDREN;
TIME-COURSE; FORM AREA; LANGUAGE; MOTOR
AB Reading utilises at least two neural pathways. The temporal lexical route visually maps whole words to their lexical entries, whilst the nonlexical route decodes words phonologically via parietal cortex. Readers typically employ the lexical route for familiar words, but poor comprehension plus precocity at mechanically 'sounding out' words suggests that differences might exist in autism. Combined MEG/EEG recordings of adults with autistic spectrum conditions (ASC) and controls while reading revealed preferential recruitment of temporal areas in controls and additional parietal recruitment in ASC. Furthermore, a lack of differences between semantic word categories was consistent with previous suggestion that people with ASC may lack a 'default' lexical-semantic processing mode. These results are discussed with reference to dual-route models of reading.
C1 [Moseley, Rachel L.; Shtyrov, Yury] MRC Cognit & Brain Sci Unit, Cambridge CB2 7EF, England.
[Pulvermueller, Friedemann] Free Univ Berlin, Dept Philosophy & Humanities, Brain Language Lab, Berlin, Germany.
[Mohr, Bettina] Anglia Ruskin Univ, Cambridge, England.
[Lombardo, Michael V.; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge, England.
[Shtyrov, Yury] Aarhus Univ, Ctr Functionally Integrat Neurosci, Aarhus, Denmark.
[Shtyrov, Yury] Lund Univ, Ctr Languages & Literature, Lund, Sweden.
RP Moseley, RL (reprint author), MRC Cognit & Brain Sci Unit, 15 Chaucer Rd, Cambridge CB2 7EF, England.
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NR 121
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 JAN
PY 2014
VL 44
IS 1
BP 137
EP 153
DI 10.1007/s10803-013-1858-z
PG 17
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000012
PM 23748435
ER
PT J
AU Hudry, K
Chandler, S
Bedford, R
Pasco, G
Gliga, T
Elsabbagh, M
Johnson, MH
Charman, T
AF Hudry, Kristelle
Chandler, Susie
Bedford, Rachael
Pasco, Greg
Gliga, Teodora
Elsabbagh, Mayada
Johnson, Mark H.
Charman, Tony
TI Early Language Profiles in Infants at High-Risk for Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Broader autism phenotype; High-risk siblings;
Receptive language; Expressive language; Language profiles
ID COMMUNICATIVE DEVELOPMENT; CHILDREN; PRESCHOOLERS; IMPAIRMENT;
VOCABULARY; ABILITIES; TODDLERS
AB Many preschoolers with autism spectrum disorders (ASD) present relative lack of receptive advantage over concurrent expressive language. Such profile emergence was investigated longitudinally in 54 infants at high-risk (HR) for ASD and 50 low-risk controls, with three language measures taken across four visits (around 7, 14, 24, 38 months). HR infants presented three outcome subgroups: ASD, other atypicality, and typical development. Reduced receptive vocabulary advantage was observed in HR infants by 14 months, but was maintained to 24 months only in ASD/other atypicality outcome subgroups while typically-developing HR infants regained a more normative profile. Few group differences appeared on a direct assessment of language and parent-reported functional communication. Processes of early development toward ASD outcome and in intermediate phenotypes are discussed.
C1 [Hudry, Kristelle] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
[Chandler, Susie; Pasco, Greg; Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London WC2R 2LS, England.
[Bedford, Rachael] Kings Coll London, Inst Psychiat, Dept Biostat, London WC2R 2LS, England.
[Gliga, Teodora; Elsabbagh, Mayada; Johnson, Mark H.] Univ London, Ctr Brain & Cognit Dev, London, England.
[Elsabbagh, Mayada] McGill Univ, Dept Psychiat, Montreal, PQ, Canada.
RP Hudry, K (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
EM k.hudry@latrobe.edu.au
RI Charman, Tony/A-2085-2014
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NR 34
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 JAN
PY 2014
VL 44
IS 1
BP 154
EP 167
DI 10.1007/s10803-013-1861-4
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000013
PM 23748385
ER
PT J
AU Kanne, SM
Mazurek, MO
Sikora, D
Bellando, J
Branum-Martin, L
Handen, B
Katz, T
Freedman, B
Powell, MP
Warren, Z
AF Kanne, Stephen M.
Mazurek, Micah O.
Sikora, Darryn
Bellando, Jayne
Branum-Martin, Lee
Handen, Benjamin
Katz, Terry
Freedman, Brian
Powell, Mary Paige
Warren, Zachary
TI The Autism Impact Measure (AIM): Initial Development of a New Tool for
Treatment Outcome Measurement
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Outcome; Treatment; Symptoms; Impairment
ID RECIPROCAL SOCIAL-BEHAVIOR; SPECTRUM DISORDERS; RATING-SCALE; DIAGNOSTIC
INTERVIEW; CHILDHOOD AUTISM; RESPONSE CATEGORIES; OPTIMAL NUMBER;
CHILDREN; INTERVENTION; VALIDATION
AB The current study describes the development and psychometric properties of a new measure targeting sensitivity to change of core autism spectrum disorder (ASD) symptoms, the Autism Impact Measure (AIM). The AIM uses a 2-week recall period with items rated on two corresponding 5-point scales (frequency and impact). Psychometric properties were examined using a large sample (n = 440) of children with ASD enrolled in the Autism Treatment Network. The exploratory factor analysis indicated four factors and resulted in a 25-item questionnaire with excellent overall model fit. Test-retest reliability, cross-informant reliability, and convergent validity with other measures of ASD symptoms and overall functioning were strong. The AIM is a reliable and valid measure of frequency and impact of core ASD symptoms.
C1 [Kanne, Stephen M.; Mazurek, Micah O.] Univ Missouri, Columbia, MO 65212 USA.
[Kanne, Stephen M.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Sikora, Darryn] Providence Neurodev Ctr Children, Portland, OR 97213 USA.
[Bellando, Jayne] Univ Arkansas Med Sci, Little Rock, AR 72202 USA.
[Branum-Martin, Lee] Georgia State Univ, Atlanta, GA 30302 USA.
[Handen, Benjamin] Univ Pittsburgh, Pittsburgh, PA 15203 USA.
[Katz, Terry] Univ Colorado, Sch Med, Aurora, CO 80045 USA.
[Freedman, Brian] Univ Delaware, Newark, DE 19716 USA.
[Powell, Mary Paige] Cornerstone Behav Med, High Point, NC 27265 USA.
[Warren, Zachary] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
RP Kanne, SM (reprint author), Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA.
EM kannest@missouri.edu
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NR 55
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 JAN
PY 2014
VL 44
IS 1
BP 168
EP 179
DI 10.1007/s10803-013-1862-3
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000014
PM 23748386
ER
PT J
AU Bouck, EC
Satsangi, R
Doughty, TT
Courtney, WT
AF Bouck, Emily C.
Satsangi, Rajiv
Doughty, Teresa Taber
Courtney, William T.
TI Virtual and Concrete Manipulatives: A Comparison of Approaches for
Solving Mathematics Problems for Students with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mathematics; Academic content; ASD; Elementary
ID MODERATE INTELLECTUAL DISABILITIES; COMPUTER-ASSISTED-INSTRUCTION;
OUTPUT COMMUNICATION AID; TEACH ADDITION FACTS; LEAST PROMPTS; CHILDREN;
SKILLS; VOCABULARY; PROGRAM; SYSTEM
AB Students with autism spectrum disorder (ASD) are included in general education classes and expected to participate in general education content, such as mathematics. Yet, little research explores academically-based mathematics instruction for this population. This single subject alternating treatment design study explored the effectiveness of concrete (physical objects that can be manipulated) and virtual (3-D objects from the Internet that can be manipulated) manipulatives to teach single- and double-digit subtraction skills. Participants in this study included three elementary-aged students (ages ranging from 6 to 10) diagnosed with ASD. Students were selected from a clinic-based setting, where all participants received medically necessary intensive services provided via one-to-one, trained therapists. Both forms of manipulatives successfully assisted students in accurately and independently solving subtraction problem. However, all three students demonstrated greater accuracy and faster independence with the virtual manipulatives as compared to the concrete manipulatives. Beyond correctly solving the subtraction problems, students were also able to generalize their learning of subtraction through concrete and virtual manipulatives to more real-world applications.
C1 [Bouck, Emily C.; Satsangi, Rajiv; Doughty, Teresa Taber; Courtney, William T.] Purdue Univ, Dept Educ Studies, W Lafayette, IN 47907 USA.
RP Bouck, EC (reprint author), Purdue Univ, Dept Educ Studies, 100 N Univ St, W Lafayette, IN 47907 USA.
EM bouck@purdue.edu
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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 JAN
PY 2014
VL 44
IS 1
BP 180
EP 193
DI 10.1007/s10803-013-1863-2
PG 14
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000015
PM 23743958
ER
PT J
AU Kamio, Y
Inada, N
Koyama, T
Inokuchi, E
Tsuchiya, K
Kuroda, M
AF Kamio, Yoko
Inada, Naoko
Koyama, Tomonori
Inokuchi, Eiko
Tsuchiya, Kenji
Kuroda, Miho
TI Effectiveness of Using the Modified Checklist for Autism in Toddlers in
Two-Stage Screening of Autism Spectrum Disorder at the 18-Month Health
Check-Up in Japan
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Community-based surveillance; Early detection;
Modified Checklist for Autism in Toddlers (M-CHAT); Screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; RATING-SCALE; CHILDREN; POPULATION;
IDENTIFICATION; QUESTIONNAIRE; CHILDHOOD; DIAGNOSIS; INTERVIEW; VALIDITY
AB To determine whether the Modified Checklist for Autism in Toddlers (M-CHAT) in conjunction with the routine 18-month health check-up identifies Japanese toddlers with autism spectrum disorder (ASD). Two-stage screening using the M-CHAT was conducted with 1,851 children attending the check-up. Final ASD diagnosis was confirmed at age a parts per thousand yen3 years. Screening identified 20/51 children with ASD: 12/20 true positives were developmentally delayed, whereas 16/22 false negatives were high-functioning. Sensitivity was 0.476, specificity 0.986, positive predictive value 0.455, and likelihood ratio 33.4 for children with ASD. With a few modifications, M-CHAT screening successfully detected toddlers with ASD with and without developmental delay and is a promising screening tool to complement existing community surveillance.
C1 [Kamio, Yoko; Inada, Naoko; Koyama, Tomonori; Inokuchi, Eiko; Kuroda, Miho] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, Kodaira, Tokyo 1878553, Japan.
[Tsuchiya, Kenji] Hamamatsu Univ, Sch Med, United Grad Sch Child Dev, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4312102, Japan.
RP Kamio, Y (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan.
EM kamio@ncnp.go.jp; nainada-tky@umin.ac.jp; tomok-tky@umin.ac.jp;
eiko_i@osa.att.ne.jp; tsuchiya@hama-med.ac.jp; pr6m-krd@asahi-net.or.jp
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NR 35
TC 4
Z9 4
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 JAN
PY 2014
VL 44
IS 1
BP 194
EP 203
DI 10.1007/s10803-013-1864-1
PG 10
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000016
PM 23740200
ER
PT J
AU Martin, J
Hamshere, ML
O'Donovan, MC
Rutter, M
Thapar, A
AF Martin, Joanna
Hamshere, Marian L.
O'Donovan, Michael C.
Rutter, Michael
Thapar, Anita
TI Factor Structure of Autistic Traits in Children with ADHD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE ADHD; ASD; Factor analysis; Neurodevelopment
ID DEFICIT-HYPERACTIVITY-DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; SOCIAL COMMUNICATION QUESTIONNAIRE; PSYCHIATRIC-ASSESSMENT
CAPA; SPECTRUM DISORDER; GENERAL-POPULATION; INTELLECTUAL DISABILITY;
ANXIETY DISORDERS; GENETIC OVERLAP; FAMILIAL TRAIT
AB Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur. Factor analyses of ASD traits in children with and without ASD indicate the presence of social and restrictive-repetitive behaviour (RRB) factors. This study used exploratory factor analyses to determine the structure of ASD traits (assessed using the Social Communication Questionnaire) in children with ADHD. Distinct factors were observed for 'social' and 'rigidity' traits, corresponding to previous factor analyses in clinical ASD and population samples. This indicates that the split between social-communicative and RRB dimensions is unaffected by ADHD in children. Moreover, the study also finds that there is some overlap across hyperactive-impulsive symptoms and RRB traits in children with ADHD, which merits further investigation.
C1 [Martin, Joanna; Hamshere, Marian L.; O'Donovan, Michael C.; Thapar, Anita] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci, Cardiff CF14 4XN, S Glam, Wales.
[Rutter, Michael] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr SGDP, London SE5 8AF, England.
RP Martin, J (reprint author), Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci, Heath Pk, Cardiff CF14 4XN, S Glam, Wales.
EM martinjm1@cardiff.ac.uk
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NR 54
TC 0
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 JAN
PY 2014
VL 44
IS 1
BP 204
EP 215
DI 10.1007/s10803-013-1865-0
PG 12
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000017
PM 23748436
ER
PT J
AU Malow, BA
Adkins, KW
Reynolds, A
Weiss, SK
Loh, A
Fawkes, D
Katz, T
Goldman, SE
Madduri, N
Hundley, R
Clemons, T
AF Malow, Beth A.
Adkins, Karen W.
Reynolds, Ann
Weiss, Shelly K.
Loh, Alvin
Fawkes, Diane
Katz, Terry
Goldman, Suzanne E.
Madduri, Niru
Hundley, Rachel
Clemons, Traci
TI Parent-Based Sleep Education for Children with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Insomnia; Actigraphy; Children's Sleep Habits Questionnaire; Repetitive
Behavior Scale-Revised; Child Behavior Checklist
ID PERVASIVE DEVELOPMENTAL DISORDERS; HABITS QUESTIONNAIRE; REPETITIVE
BEHAVIOR; STRESS; ACTIGRAPHY; CORTISOL; QUALITY; DISTURBANCES;
VALIDATION; TODDLERS
AB This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2-10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children's Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome.
C1 [Malow, Beth A.; Adkins, Karen W.; Fawkes, Diane; Goldman, Suzanne E.] Vanderbilt Univ, Sch Med, Dept Neurol, Sleep Disorders Div, Nashville, TN 37232 USA.
[Malow, Beth A.; Adkins, Karen W.; Fawkes, Diane; Goldman, Suzanne E.] Vanderbilt Univ, Sch Med, Vanderbilt Kennedy Ctr, Nashville, TN 37232 USA.
[Reynolds, Ann; Katz, Terry] Univ Colorado Denver, Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA.
[Weiss, Shelly K.] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Loh, Alvin] Surrey Pl Ctr, Toronto, ON M5S 2C2, Canada.
[Madduri, Niru; Hundley, Rachel] Vanderbilt Univ, Sch Med, Monroe Carell Jr Childrens Hosp Vanderbilt, Dept Pediat, Nashville, TN 37232 USA.
[Clemons, Traci] EMMES Corp, Rockville, MD 20850 USA.
RP Malow, BA (reprint author), Vanderbilt Univ, Sch Med, Dept Neurol, Sleep Disorders Div, 1161 21st Ave South,Room A-0116, Nashville, TN 37232 USA.
EM beth.malow@vanderbilt.edu
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Wechsler D., 2003, WECHSLER INTELLIGENC
NR 53
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 JAN
PY 2014
VL 44
IS 1
BP 216
EP 228
DI 10.1007/s10803-013-1866-z
PG 13
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000018
PM 23754339
ER
PT J
AU Zachor, DA
Ben-Itzchak, E
AF Zachor, Ditza A.
Ben-Itzchak, Esther
TI The Relationship Between Clinical Presentation and Unusual Sensory
Interests in Autism Spectrum Disorders: A Preliminary Investigation
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Unusual sensory interests; Negative sensory
responses; Autism severity; Adaptive skills; Cognitive ability
ID YOUNG-CHILDREN; DIAGNOSIS; PATTERNS; SUBTYPES
AB Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of 'unusual sensory interests' and 'negative sensory responses' and their relation to functioning in a large ASD population (n = 679). Having 'unusual sensory interests' was reported in 70.4 % and 'negative sensory responses' in 66.0 % of the ASD group. Having 'unusual sensory interests' was associated with more severe reported and observed autism symptoms, lower cognitive ability and lower adaptive skills. In contrast, having 'negative sensory responses' was only associated with more severe reported stereotyped behaviors. It is suggested that having 'unusual sensory interests' is a part of a primary more severe type of ASD involving numerous developmental domains that might have a unique neurobiological origin.
C1 [Zachor, Ditza A.] Assaf Harofeh Med Ctr, Autism Ctr, Dept Pediat, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel.
[Ben-Itzchak, Esther] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Ben-Itzchak, Esther] Ariel Univ, Dept Commun Disorders, IL-40700 Ariel, Israel.
RP Zachor, DA (reprint author), Assaf Harofeh Med Ctr, Autism Ctr, Dept Pediat, IL-70300 Zerifin, Israel.
EM dzachor@smile.net.il
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NR 33
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 JAN
PY 2014
VL 44
IS 1
BP 229
EP 235
DI 10.1007/s10803-013-1867-y
PG 7
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000019
ER
PT J
AU Holt, S
Yuill, N
AF Holt, Samantha
Yuill, Nicola
TI Facilitating Other-Awareness in Low-Functioning Children with Autism and
Typically-Developing Preschoolers Using Dual-Control Technology
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Childhood autism; Other-awareness; Collaboration; Social cognitive
development; Computer technology; Separate control of shared space
ID JOINT ATTENTION INTERVENTION; YOUNG-CHILDREN; 2ND YEAR; LANGUAGE;
SPECTRUM; PLAY; SELF; INSTRUCTION; COOPERATION; INTENTIONS
AB Children with autism are said to lack other-awareness, which restricts their opportunities for peer collaboration. We assessed other-awareness in non-verbal children with autism and typically-developing preschoolers collaborating on a shared computerised picture-sorting task. The studies compared a novel interface, designed to support other-awareness, with a standard interface, with adult and peer partners. The autism group showed no active other-awareness using the standard interface, but revealed clear active other-awareness using the supportive interface. Both groups displayed more other-awareness with the technology than without and also when collaborating with a peer than with an adult partner. We argue that children with autism possess latent abilities to coordinate social interaction that only become evident with appropriate support.
C1 [Holt, Samantha; Yuill, Nicola] Univ Sussex, Sch Psychol, Falmer BN1 9QH, E Sussex, England.
RP Holt, S (reprint author), Univ Sussex, Sch Psychol, Pevensey Bldg, Falmer BN1 9QH, E Sussex, England.
EM s.holt@sussex.ac.uk
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NR 40
TC 4
Z9 4
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 JAN
PY 2014
VL 44
IS 1
BP 236
EP 248
DI 10.1007/s10803-013-1868-x
PG 13
WC Psychology, Developmental
SC Psychology
GA 283GB
UT WOS:000329233000020
PM 23756935
ER
PT J
AU Scahill, L
Dimitropoulos, A
McDougle, CJ
Aman, MG
Feurer, ID
McCracken, JT
Tierney, E
Pu, J
White, S
Lecavalier, L
Hallett, V
Bearss, K
King, B
Arnold, LE
Vitiello, B
AF Scahill, Lawrence
Dimitropoulos, Anastasia
McDougle, Christopher J.
Aman, Michael G.
Feurer, Irene D.
McCracken, James T.
Tierney, Elaine
Pu, Jie
White, Susan
Lecavalier, Luc
Hallett, Victoria
Bearss, Karen
King, Bryan
Arnold, L. Eugene
Vitiello, Benedetto
TI Children's Yale-Brown Obsessive Compulsive Scale in Autism Spectrum
Disorder: Component Structure and Correlates of Symptom Checklist
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; clinical trials; outcome measures; repetitive
behavior
ID PERVASIVE DEVELOPMENTAL DISORDERS; SERIOUS BEHAVIORAL-PROBLEMS;
REPETITIVE BEHAVIOR; RISPERIDONE; QUESTIONNAIRE; RELIABILITY;
VALIDATION; INTERVIEW; TRIAL; SELF
AB Objective: Repetitive behaviors in autism spectrum disorders (ASD) range from motor stereotypy to immersion in restricted interests. The modified Children's Yale Brown Obsessive Compulsive Scale for children with autism spectrum disorder (CYBOCS-ASD) includes a Symptom Checklist (behavior present or absent) and 5 severity scales (Time Spent, Interference, Distress, Resistance and Control). Method: We assembled CYBOCS-ASD data from 3 Research Units on Pediatric Psychopharmacology Autism Network trials to explore the component structure of repetitive behaviors in children with ASD. Raters trained to reliability conducted the CYBOCS-ASD in 272 medication-free subjects. Fifteen Symptom Checklist items were endorsed for less than 5% of the sample and were dropped. Principal component analysis was used to explore the clustering of 23 checklist items. Component scores computed for each subject were correlated with other measures. We also examined the distribution of severity scales. Results: The subjects (229 boys and 43 girls; mean age = 7.8 +/- 2.6 years) met criteria for an ASD; half were intellectually disabled. The PCA resulted in a 5-component solution to classify repetitive behaviors (34.4% of the variance): hoarding and ritualistic behavior; sensory and arranging behavior; sameness and self-injurious behavior; stereotypy; restricted interests. Sensory and arranging and stereotypy components were associated with lower adaptive functioning (Pearson r = 0.2-0.3; p < .003). The resistance scale showed little variation, with more than 60% of the sample with the highest score. Conclusions: Rarely endorsed items can be dropped from the Checklist. The resistance item does not appear to be relevant for children with ASD.
C1 [Scahill, Lawrence; Bearss, Karen] Emory Univ, Atlanta, GA 30322 USA.
[Dimitropoulos, Anastasia] Case Western Reserve Univ, Cleveland, OH 44106 USA.
[McDougle, Christopher J.] Harvard Univ, Cambridge, MA 02138 USA.
[Aman, Michael G.; Lecavalier, Luc; Arnold, L. Eugene] Ohio State Univ, Columbus, OH 43210 USA.
[Feurer, Irene D.] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA.
[McCracken, James T.] Univ Calif Los Angeles, Los Angeles, CA 90024 USA.
[Tierney, Elaine] Johns Hopkins Univ, Baltimore, MD 21218 USA.
[Pu, Jie] Univ Arizona, Tucson, AZ 85721 USA.
[White, Susan] Virginia Polytech Univ, Blacksburg, VA 24061 USA.
[Hallett, Victoria] Kings Coll London, London WC2R 2LS, England.
[King, Bryan] Univ Washington, Seattle, WA 98195 USA.
[Vitiello, Benedetto] NIMH, Bethesda, MD USA.
RP Scahill, L (reprint author), Marcus Ctr, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM lawrence.scahill@emory.edu
FU NIMH by Research Unit on Pediatric Psychopharmacology (RUPP), Yale
[U10MH66764]; NIMH by Research Unit on Pediatric Psychopharmacology
(RUPP), Indiana University [U10MH66766]; NIMH by Research Unit on
Pediatric Psychopharmacology (RUPP), Ohio, State University
[U10MH66768]; Yale CTSA from the National Center for Research Resources
(NCRR) [UL1 RR024139]; IU CTSA from the National Center for Research
Resources (NCRR) [UL1 RR025761]; OSU CTSA from the National Center for
Research Resources (NCRR) [UL1 RR025755]
FX This work was funded by NIMH by the following Research Units on
Pediatric Psychopharmacology (RUPP) grants: Yale, U10MH66764; Indiana
University, U10MH66766, and Ohio, State University, U10MH66768. This
publication was also supported by the Yale CTSA, UL1 RR024139, IU CTSA
UL1 RR025761, OSU CTSA UL1 RR025755 from the National Center for
Research Resources (NCRR).
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NR 35
TC 1
Z9 1
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 JAN
PY 2014
VL 53
IS 1
BP 97
EP 107
DI 10.1016/j.jaac.2013.09.018
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 280GG
UT WOS:000329016100011
PM 24342389
ER
PT J
AU Steinberg, S
de Jong, S
Mattheisen, M
Costas, J
Demontis, D
Jamain, S
Pietilainen, OPH
Lin, K
Papiol, S
Huttenlocher, J
Sigurdsson, E
Vassos, E
Giegling, I
Breuer, R
Fraser, G
Walker, N
Melle, I
Djurovic, S
Agartz, I
Tuulio-Henriksson, A
Suvisaari, J
Lonnqvist, J
Paunio, T
Olsen, L
Hansen, T
Ingason, A
Pirinen, M
Strengman, E
Hougaard, DM
Orntoft, T
Didriksen, M
Hollegaard, MV
Nordentoft, M
Abramova, L
Kaleda, V
Arrojo, M
Sanjuan, J
Arango, C
Etain, B
Bellivier, F
Meary, A
Schurhoff, F
Szoke, A
Ribolsi, M
Magni, V
Siracusano, A
Sperling, S
Rossner, M
Christiansen, C
Kiemeney, LA
Franke, B
van den Berg, LH
Veldink, J
Curran, S
Bolton, P
Poot, M
Staal, W
Rehnstrom, K
Kilpinen, H
Freitag, CM
Meyer, J
Magnusson, P
Saemundsen, E
Martsenkovsky, I
Bikshaieva, I
Martsenkovska, I
Vashchenko, O
Raleva, M
Paketchieva, K
Stefanovski, B
Durmishi, N
Milovancevic, MP
Tosevski, DL
Silagadze, T
Naneishvili, N
Mikeladze, N
Surguladze, S
Vincent, JB
Farmer, A
Mitchell, PB
Wright, A
Schofield, PR
Fullerton, JM
Montgomery, GW
Martin, NG
Rubino, IA
van Winkel, R
Kenis, G
De Hert, M
Rethelyi, JM
Bitter, I
Terenius, L
Jonsson, EG
Bakker, S
van Os, J
Jablensky, A
Leboyer, M
Bramon, E
Powell, J
Murray, R
Corvin, A
Gill, M
Morris, D
O'Neill, FA
Kendler, K
Riley, B
Craddock, N
Owen, MJ
O'Donovan, MC
Thorsteinsdottir, U
Kong, A
Ehrenreich, H
Carracedo, A
Golimbet, V
Andreassen, OA
Borglum, AD
Mors, O
Mortensen, PB
Werge, T
Ophoff, RA
Nothen, MM
Rietschel, M
Cichon, S
Ruggeri, M
Tosato, S
Palotie, A
St Clair, D
Rujescu, D
Collier, DA
Stefansson, H
Stefansson, K
AF Steinberg, S.
de Jong, S.
Mattheisen, M.
Costas, J.
Demontis, D.
Jamain, S.
Pietilainen, O. P. H.
Lin, K.
Papiol, S.
Huttenlocher, J.
Sigurdsson, E.
Vassos, E.
Giegling, I.
Breuer, R.
Fraser, G.
Walker, N.
Melle, I.
Djurovic, S.
Agartz, I.
Tuulio-Henriksson, A.
Suvisaari, J.
Lonnqvist, J.
Paunio, T.
Olsen, L.
Hansen, T.
Ingason, A.
Pirinen, M.
Strengman, E.
Hougaard, D. M.
Orntoft, T.
Didriksen, M.
Hollegaard, M. V.
Nordentoft, M.
Abramova, L.
Kaleda, V.
Arrojo, M.
Sanjuan, J.
Arango, C.
Etain, B.
Bellivier, F.
Meary, A.
Schuerhoff, F.
Szoke, A.
Ribolsi, M.
Magni, V.
Siracusano, A.
Sperling, S.
Rossner, M.
Christiansen, C.
Kiemeney, L. A.
Franke, B.
van den Berg, L. H.
Veldink, J.
Curran, S.
Bolton, P.
Poot, M.
Staal, W.
Rehnstrom, K.
Kilpinen, H.
Freitag, C. M.
Meyer, J.
Magnusson, P.
Saemundsen, E.
Martsenkovsky, I.
Bikshaieva, I.
Martsenkovska, I.
Vashchenko, O.
Raleva, M.
Paketchieva, K.
Stefanovski, B.
Durmishi, N.
Milovancevic, M. Pejovic
Tosevski, D. Lecic
Silagadze, T.
Naneishvili, N.
Mikeladze, N.
Surguladze, S.
Vincent, J. B.
Farmer, A.
Mitchell, P. B.
Wright, A.
Schofield, P. R.
Fullerton, J. M.
Montgomery, G. W.
Martin, N. G.
Rubino, I. A.
van Winkel, R.
Kenis, G.
De Hert, M.
Rethelyi, J. M.
Bitter, I.
Terenius, L.
Jonsson, E. G.
Bakker, S.
van Os, J.
Jablensky, A.
Leboyer, M.
Bramon, E.
Powell, J.
Murray, R.
Corvin, A.
Gill, M.
Morris, D.
O'Neill, F. A.
Kendler, K.
Riley, B.
Craddock, N.
Owen, M. J.
O'Donovan, M. C.
Thorsteinsdottir, U.
Kong, A.
Ehrenreich, H.
Carracedo, A.
Golimbet, V.
Andreassen, O. A.
Borglum, A. D.
Mors, O.
Mortensen, P. B.
Werge, T.
Ophoff, R. A.
Noethen, M. M.
Rietschel, M.
Cichon, S.
Ruggeri, M.
Tosato, S.
Palotie, A.
St Clair, D.
Rujescu, D.
Collier, D. A.
Stefansson, H.
Stefansson, K.
CA GROUP
Wellcome Trust Case Control Consor
TI Common variant at 16p11.2 conferring risk of psychosis
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE association; bipolar disorder; cross-disorder; schizophrenia; 16p11.2
ID GENOME-WIDE ASSOCIATION; BIPOLAR-DISORDER; GENE-EXPRESSION;
SCHIZOPHRENIA; LOCUS; DISEASE; MICRODELETIONS; AUTISM; METAANALYSIS;
PHENOTYPES
AB Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio = 1.08; P = 6.6 x 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium data set; P = 0.00047 in 22 651 additional Icelanders).
C1 [Steinberg, S.; Huttenlocher, J.; Thorsteinsdottir, U.; Kong, A.; Stefansson, H.; Stefansson, K.] deCODE Genet, IS-101 Reykjavik, Iceland.
[de Jong, S.; Ophoff, R. A.] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA USA.
[Mattheisen, M.] Harvard Univ, Brigham & Womens Hosp, Sch Med, Channing Div Network Med, Boston, MA 02115 USA.
[Mattheisen, M.] Univ Bonn, Inst Genom Math, Bonn, Germany.
[Mattheisen, M.; Cichon, S.] Univ Bonn, Dept Genom, Life & Brain Ctr, Bonn, Germany.
[Costas, J.] CHUS, Galician Fdn Genom Med SERGAS, Santiago De Compostela, Spain.
[Demontis, D.; Borglum, A. D.] Aarhus Univ, Dept Biomed, Aarhus, Denmark.
[Demontis, D.; Borglum, A. D.] Aarhus Univ, iSEQ, Ctr Integrat Sequencing, Aarhus, Denmark.
[Demontis, D.; Nordentoft, M.; Borglum, A. D.; Mors, O.; Mortensen, P. B.; Werge, T.] Lundbeck Fdn Initiat Integrat Psychiat Res, iPSYCH, Aarhus, Denmark.
[Jamain, S.; Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Fdn FondaMental, Creteil, France.
[Jamain, S.; Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France.
[Pietilainen, O. P. H.; Rehnstrom, K.; Kilpinen, H.; Palotie, A.] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.
[Pietilainen, O. P. H.] Inst Hlth & Welf, Publ Hlth Genom Unit, Helsinki, Finland.
[Pietilainen, O. P. H.; Rehnstrom, K.; Kilpinen, H.; Palotie, A.] Wellcome Trust Sanger Inst, Cambridge, England.
[Lin, K.; Powell, J.] South London & Maudsley NHS Fdn Trust, NIHR Biomed Res Ctr Mental Hlth, Dept Neurosci, London, England.
[Lin, K.; Powell, J.; Murray, R.] Kings Coll London, London, England.
[Papiol, S.; Rossner, M.; Ehrenreich, H.] DFG Res Ctr Mol Physiol Brain CMPB, Gottingen, Germany.
[Papiol, S.; Sperling, S.; Ehrenreich, H.] Max Planck Inst Expt Med, Div Clin Neurosci, D-37075 Gottingen, Germany.
[Huttenlocher, J.] Univ Tubingen, Inst Human Genet, Dept Med Genet, Tubingen, Germany.
[Sigurdsson, E.] Natl Univ Hosp Reykjavik, Dept Psychiat, Reykjavik, Iceland.
[Sigurdsson, E.; Thorsteinsdottir, U.; Stefansson, K.] Univ Iceland, Sch Med, Reykjavik, Iceland.
[Vassos, E.; Curran, S.; Bolton, P.; Farmer, A.; Collier, D. A.] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Res Ctr, London, England.
[Giegling, I.; Rujescu, D.] Univ Munich, Dept Psychiat, Div Mol & Clin Neurobiol, D-80539 Munich, Germany.
[Breuer, R.; Rietschel, M.] Heidelberg Univ, Cent Inst Mental Hlth, Dept Genet Epidemiol Psychiat, Mannheim, Germany.
[Fraser, G.; St Clair, D.] Univ Aberdeen, Dept Mental Hlth, Royal Cornhill Hosp, Aberdeen, Scotland.
[Walker, N.] Ravenscraig Hosp, Greenock, Scotland.
[Melle, I.; Djurovic, S.; Agartz, I.; Andreassen, O. A.] Univ Oslo, Inst Clin Med, KG Jebsen Ctr Psychosis Res, Div Mental Hlth & Addict,Oslo Univ Hosp, Oslo, Norway.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.] Natl Inst Hlth & Welf, Dept Mental Hlth & Subst Abuse Serv, Helsinki, Finland.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.; Paunio, T.] Univ Helsinki, Dept Psychiat, SF-00180 Helsinki, Finland.
[Tuulio-Henriksson, A.; Suvisaari, J.; Lonnqvist, J.; Paunio, T.] Univ Helsinki, Cent Hosp, Helsinki, Finland.
[Paunio, T.] Natl Inst Hlth & Welf THL, Publ Hlth Genom Unit, Helsinki, Finland.
[Olsen, L.; Hansen, T.; Ingason, A.; Werge, T.] Univ Copenhagen, Mental Hlth Ctr Sct Hans, Inst Biol Psychiat, Roskilde, Denmark.
[Pirinen, M.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Strengman, E.; Poot, M.] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands.
[Hougaard, D. M.; Hollegaard, M. V.] Statens Serum Inst, Dept Clin Biochem Immunol & Genet, Sect Neonatal Screening & Hormones, DK-2300 Copenhagen, Denmark.
[Orntoft, T.] Aarhus Univ Hosp, Dept Mol Med, DK-8000 Aarhus, Denmark.
[Didriksen, M.] H Lundbeck & Co AS, Synapt Transmiss, Copenhagen, Denmark.
[Nordentoft, M.] Copenhagen Univ Hosp, Psychiat Ctr Copenhagen, Copenhagen, Denmark.
[Abramova, L.; Kaleda, V.; Golimbet, V.] Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia.
[Arrojo, M.] CHUS, Serv Psychiat, Santiago De Compostela, Spain.
[Sanjuan, J.] Univ Valencia, Network Ctr Biomed Res Mental Hlth CIBERSAM, Unit Psychiat, Fac Med, Valencia, Spain.
[Arango, C.] Univ Complutense, Hosp Gen Univ Gregorio Maranon, IiSGM, CIBERSAM, E-28040 Madrid, Spain.
[Etain, B.; Bellivier, F.; Meary, A.; Schuerhoff, F.; Szoke, A.; Leboyer, M.] Hop H Mondor A Chenevier, AP HP, Creteil, France.
[Bellivier, F.; Schuerhoff, F.; Leboyer, M.] Univ Paris Est, Fac Med, Creteil, France.
[Ribolsi, M.; Magni, V.; Siracusano, A.; Rubino, I. A.] Univ Roma Tor Vergata, Dept Neurosci, Sect Psychiat, Rome, Italy.
[Rossner, M.] Max Planck Inst Expt Med, Dept Neurogenet, D-37075 Gottingen, Germany.
[Christiansen, C.] Nord Biosci, Herlev, Denmark.
[Kiemeney, L. A.] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, NL-6525 ED Nijmegen, Netherlands.
[Kiemeney, L. A.] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands.
[Franke, B.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Franke, B.] Radboud Univ Nijmegen, Med Ctr, Dept Psychiat, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[van den Berg, L. H.; Veldink, J.] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands.
[Curran, S.; Bolton, P.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London, England.
[Staal, W.] Radboud Univ Nijmegen, Dept Cognit Neurosci, NL-6525 ED Nijmegen, Netherlands.
[Freitag, C. M.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Meyer, J.] Univ Trier, Dept Neurobehav Genet, Trier, Germany.
[Magnusson, P.] Natl Univ Hosp Reykjavik, Dept Child & Adolescent Psychiat, Reykjavik, Iceland.
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[Martsenkovsky, I.; Bikshaieva, I.; Martsenkovska, I.; Vashchenko, O.] Ukrainian Res Inst Social Forens Psychiat & Drug, Dept Child Adolescent Psychiat & Med Social Rehab, Kiev, Ukraine.
[Raleva, M.; Paketchieva, K.; Stefanovski, B.; Durmishi, N.] Univ Skopje, Dept Child & Adolescent Psychiat, Skopje, Macedonia.
[Milovancevic, M. Pejovic; Tosevski, D. Lecic] Inst Mental Hlth, Belgrade, Serbia.
[Milovancevic, M. Pejovic; Tosevski, D. Lecic] Univ Belgrade, Fac Med, Belgrade, Serbia.
[Silagadze, T.; Naneishvili, N.; Mikeladze, N.] Tbilisi State Med Univ TSMU, Dept Psychiat & Drug Addict, Tbilisi, Rep of Georgia.
[Surguladze, S.] Ilia State Univ, Social & Affect Neurosci Lab, Tbilisi, Rep of Georgia.
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[Mitchell, P. B.; Wright, A.] Prince Wales Hosp, Black Dog Inst, Randwick, NSW 2031, Australia.
[Mitchell, P. B.; Wright, A.] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Schofield, P. R.; Fullerton, J. M.] Neurosci Res Australia, Sydney, NSW, Australia.
[Schofield, P. R.; Fullerton, J. M.] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia.
[Montgomery, G. W.; Martin, N. G.] Queensland Inst Med Res, Brisbane, Qld 4006, Australia.
[van Winkel, R.; De Hert, M.] Catholic Univ Louvain, Univ Psychiat Ctr, Kortenberg, Belgium.
[van Winkel, R.; Kenis, G.] Maastricht Univ, European Grad Sch Neurosci EURON,Med Ctr, Sch Mental Hlth & Neurosci,Dept Psychiat & Psycho, South Limburg Mental Hlth Res & Teaching Network, Maastricht, Netherlands.
[Rethelyi, J. M.; Bitter, I.] Semmelweis Univ, Dept Psychiat & Psychotherapy, H-1085 Budapest, Hungary.
[Terenius, L.; Jonsson, E. G.] Karolinska Hosp & Inst, HUBIN Project, Dept Clin Neurosci, Stockholm, Sweden.
[Bakker, S.; Ophoff, R. A.] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Psychiat, Utrecht, Netherlands.
[van Os, J.] Maastricht Univ, Dept Psychiat, Med Ctr, Maastricht, Netherlands.
[Jablensky, A.] Univ Western Australia, Graylands Hosp, CCRN, Perth, WA 6009, Australia.
[Bramon, E.] UCL, Mental Hlth Sci Unit, London, England.
[Bramon, E.] UCL, Inst Cognit Neurosci, London, England.
[Murray, R.] South London & Maudsley NHS Fdn Trust, NIHR Biomed Res Ctr Mental Hlth, Dept Psychosis Studies, London, England.
[Corvin, A.; Gill, M.; Morris, D.] Trinity Coll Dublin, Sch Med, Neuropsychiat Genet Res Grp, Dublin, Ireland.
[O'Neill, F. A.] Queens Univ Belfast, Dept Psychiat, Belfast, Antrim, North Ireland.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA USA.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Richmond, VA USA.
[Kendler, K.; Riley, B.] Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA.
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[Carracedo, A.] Univ Santiago de Compostela, Biomed Network Res Ctr Rare Dis CIBERER, Galician Fdn Genom Med, Genom Med Grp, Santiago De Compostela, Spain.
[Borglum, A. D.; Mors, O.] Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark.
[Mortensen, P. B.] Aarhus Univ, Natl Ctr Register Based Res, Aarhus, Denmark.
[Noethen, M. M.] German Ctr Neurodegenerat Disorders DZNE, Bonn, Germany.
[Noethen, M. M.; Cichon, S.] Univ Bonn, Inst Human Genet, Bonn, Germany.
[Cichon, S.] Inst Neurosci & Med INM 1, Julich, Germany.
[Ruggeri, M.; Tosato, S.] Univ Verona, Sect Psychiat, I-37100 Verona, Italy.
[Palotie, A.] Broad Inst MIT & Harvard, Program Med & Populat Genet & Genet Anal Platform, Cambridge, MA USA.
[Palotie, A.] Univ Helsinki, Dept Med Genet, Helsinki, Finland.
[Palotie, A.] Univ Cent Hosp, Helsinki, Finland.
[Rujescu, D.] Univ Halle Wittenberg, Dept Psychiat, D-06108 Halle, Germany.
[Collier, D. A.] Eli Lilly & Co Ltd, Erl Wood Manor, Windlesham, Surrey, England.
RP Stefansson, K (reprint author), deCODE Genet, Sturlugata 8, IS-101 Reykjavik, Iceland.
EM kstefans@decode.is
RI Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014; Kiemeney,
Lambertus/D-3357-2009; Sigurdsson, Engilbert/D-2486-2014; Powell,
John/G-4412-2011; Poot, Martin/F-9427-2010; Franke, Barbara/D-4836-2009;
Bolton, Patrick/E-8501-2010; Deloukas, Panos/B-2922-2013; Costas,
Javier/B-5016-2008; Jablensky, Assen/H-5116-2014; Hansen,
Thomas/O-5965-2014; Jankowski, Janusz/H-2706-2012
OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X;
Kiemeney, Lambertus/0000-0002-2368-1326; Sigurdsson,
Engilbert/0000-0001-9404-7982; Powell, John/0000-0001-6124-439X; Franke,
Barbara/0000-0003-4375-6572; Bolton, Patrick/0000-0002-5270-6262;
Deloukas, Panos/0000-0001-9251-070X; Costas, Javier/0000-0003-0306-3990;
Hansen, Thomas/0000-0001-6703-7762; Jankowski,
Janusz/0000-0003-2130-9181
FU National Institute of Mental Health [N01 MH900001, MH074027,
1U24MH081810, R01 MH078075]; Eli Lilly and Company; Pritzker
Neuropsychiatric Disorders Research Fund L.L.C.; Massachusetts General
Hospital in Boston, MA (NIMH) [2N01MH080001-001]; Wellcome Trust
[076113, 085475, 075491/Z/04, 085475/B/08/Z, 085475/Z/08/Z]; Medical
Research Council [G0601030]; Anthony P Monaco, PI, University of Oxford;
National Genome Research Network of the German Federal Ministry of
Education and Research (BMBF) [01GS08144, 01GS08147]; Centre of
Excellence for Complex Disease Genetics of the Academy of Finland
[213506, 129680]; Biocentrum Helsinki Foundation; Research Program for
Molecular Medicine, Faculty of Medicine, University of Helsinki; Stanley
Medical Research Institute; Danish Council for Strategic Research
[2101-07-0059]; H Lundbeck A/S; the Research Council of Norway
[163070/V50]; Danish Medical Research Council; South-East Norway Health
Authority [2004-123]; Medical Research Council; Ministerio de Sanidad y
Consumo, Spain [PI081522]; Xunta de Galicia [08CSA005208PR]; Swedish
Research Council; Wellcome Trust Case Control Consortium 2; Max Planck
Society; Saarland University [T6 03 10 00-45]; Netherlands Foundation
for Brain Research (Hersenstichting) [2008(1).34]; [2006-037761];
[PIAP-GA-2008-218251]; [HEALTH-F2-2009-223423];
[HEALTH-F4-2009-242257]
FX We would like to thank the subjects, their families and the recruitment
centre staff. We would also like to acknowledge the help of Maria
Dolores Molto (Genetics Department, Valencia University, CIBERSAM),
Eduardo Paz and Ramon Ramos-Rios (Complexo Hospitalario de Santiago),
and the contribution of Fundacion Botin. This study makes use of seven
external, publicly available data sets. First, it makes use of data
generated by the Clinical Antipsychotic Trials of Intervention
Effectiveness (CATIE) project whose principal investigators were Jeffrey
A Lieberman, MD, T Scott Stroup, MD, MPH, and Joseph P McEvoy, MD. The
CATIE trial was funded by a grant from the National Institute of Mental
Health (N01 MH900001) along with MH074027 (PI PF Sullivan). Genotyping
was funded by Eli Lilly and Company. Second, the GAIN/BiGs data sets
used in this work were obtained from the database of Genotypes and
Phenotypes (dbGaP) found at http://www.ncbi.nlm.nih.gov/gap through
dbGaP accession number phs000017.v3.p1. Third, the study uses samples
genotyped using the Ilumina 550K platform by the Pritzker Consortium,
supported by the Pritzker Neuropsychiatric Disorders Research Fund
L.L.C. The Pritzker Consortium includes scientists at the University of
Michigan (H Akil and S J Watson, Site Directors, and Michael Boehnke,
lead on bipolar genotyping effort); Stanford University (Rick Myers and
Alan Schatzberg, Site Directors); the University of California at Davis
(Ted Jones, Site Director); the University of California at Irvine
(William Bunney, Site Director); and the Weill Medical College of
Cornell University (Jack Barchas, Site Director). Fourth, the work uses
data from the Systematic Treatment Enhancement Program for Bipolar
Disorder (STEP-BD) project, led by Gary Sachs, MD, and coordinated by
Massachusetts General Hospital in Boston, MA (NIMH grant number was
2N01MH080001-001). Fifth, this study makes use of data generated by the
Wellcome Trust Case-Control Consortium. A full list of the investigators
who contributed to the generation of the data is available from
www.wtccc.org.uk. Funding for the project was provided by the Wellcome
Trust under award 076113 and 085475. Sixth, we gratefully acknowledge
the resources provided by the Autism Genetic Resource Exchange (AGRE)
Consortium* and the participating AGRE families. The AGRE 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).
Seventh, the Autism Genome Project (AGP) data sets used for the analysis
described in this manuscript were obtained from dbGaP at
http://www.ncbi.nlm.nih.gov/gap through dbGaP accession number,
phs000267.v1.p1. Submission of the data to dbGaP was provided by Dr
Bernie Devlin on behalf of the AGP. Collection and submission of the
data to dbGaP were supported by a grant from the Medical Research
Council (G0601030) and the Wellcome Trust (075491/Z/04), Anthony P
Monaco, PI, University of Oxford.This work was also supported by the
European Union (grant numbers LSHM-CT-2006-037761 (Project SGENE),
PIAP-GA-2008-218251 (Project PsychGene), HEALTH-F2-2009-223423 (Project
PsychCNVs), HEALTH-F4-2009-242257 (Project ADAMS) and IMI-JU-New-Meds);
the National Genome Research Network of the German Federal Ministry of
Education and Research (BMBF) (grant numbers 01GS08144 (MooDS-Net) and
01GS08147 (NGFNplus)); the National Institute of Mental Health (R01
MH078075, and N01 MH900001, MH074027 to the Clinical Antipsychotic
Trials of Intervention Effectiveness (CATIE) project); the Centre of
Excellence for Complex Disease Genetics of the Academy of Finland (grant
numbers 213506 and 129680); the Biocentrum Helsinki Foundation and
Research Program for Molecular Medicine, Faculty of Medicine, University
of Helsinki; the Stanley Medical Research Institute; the Danish Council
for Strategic Research (grant number 2101-07-0059); H Lundbeck A/S; the
Research Council of Norway (grant number 163070/V50); the Danish Medical
Research Council; the South-East Norway Health Authority (grant number
2004-123); the Medical Research Council; Ministerio de Sanidad y
Consumo, Spain (grant number PI081522 to JC); Xunta de Galicia (grant
number 08CSA005208PR to A Carracedo); the Swedish Research Council; the
Wellcome Trust (Wellcome Trust grants 085475/B/08/Z and 085475/Z/08/Z as
part of the Wellcome Trust Case Control Consortium 2); the Max Planck
Society; Saarland University (grant number T6 03 10 00-45 to CMF); the
Netherlands Foundation for Brain Research (Hersenstichting) (grant
number 2008(1).34 to M Poot); and Eli Lilly and Company (genotyping for
CATIE and part of the TOP sample). For further acknowledgements, see the
Supplementary Material.
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NR 49
TC 18
Z9 18
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 JAN
PY 2014
VL 19
IS 1
BP 108
EP 114
DI 10.1038/mp.2012.157
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 279MS
UT WOS:000328964700019
PM 23164818
ER
PT J
AU Jarick, I
Volckmar, AL
Putter, C
Pechlivanis, S
Nguyen, TT
Dauvermann, MR
Beck, S
Albayrak, O
Scherag, S
Gilsbach, S
Cichon, S
Hoffmann, P
Degenhardt, F
Nothen, MM
Schreiber, S
Wichmann, HE
Jockel, KH
Heinrich, J
Tiesler, CMT
Faraone, SV
Walitza, S
Sinzig, J
Freitag, C
Meyer, J
Herpertz-Dahlmann, B
Lehmkuhl, G
Renner, TJ
Warnke, A
Romanos, M
Lesch, KP
Reif, A
Schimmelmann, BG
Hebebrand, J
Scherag, A
Hinney, A
AF Jarick, I.
Volckmar, A-L
Puetter, C.
Pechlivanis, S.
Nguyen, T. T.
Dauvermann, M. R.
Beck, S.
Albayrak, Oe
Scherag, S.
Gilsbach, S.
Cichon, S.
Hoffmann, P.
Degenhardt, F.
Noethen, M. M.
Schreiber, S.
Wichmann, H-E
Joeckel, K-H
Heinrich, J.
Tiesler, C. M. T.
Faraone, S. V.
Walitza, S.
Sinzig, J.
Freitag, C.
Meyer, J.
Herpertz-Dahlmann, B.
Lehmkuhl, G.
Renner, T. J.
Warnke, A.
Romanos, M.
Lesch, K-P
Reif, A.
Schimmelmann, B. G.
Hebebrand, J.
Scherag, A.
Hinney, A.
TI Genome-wide analysis of rare copy number variations reveals PARK2 as a
candidate gene for attention-deficit/hyperactivity disorder
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE ADHD; children; CNVs; GWAS; PARK2
ID DEFICIT HYPERACTIVITY DISORDER; RECURRENT MICRODELETIONS;
MOLECULAR-GENETICS; ADHD; ASSOCIATION; VARIANTS; DISEASE; SCHIZOPHRENIA;
DUPLICATIONS; AUTISM
AB Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder. Genetic loci have not yet been identified by genome-wide association studies. Rare copy number variations (CNVs), such as chromosomal deletions or duplications, have been implicated in ADHD and other neurodevelopmental disorders. To identify rare (frequency <= 1%) CNVs that increase the risk of ADHD, we performed a whole-genome CNV analysis based on 489 young ADHD patients and 1285 adult population-based controls and identified one significantly associated CNV region. In tests for a global burden of large (> 500kb) rare CNVs, we observed a nonsignificant (P = 0.271) 1.126-fold enriched rate of subjects carrying at least one such CNV in the group of ADHD cases. Locus-specific tests of association were used to assess if there were more rare CNVs in cases compared with controls. Detected CNVs, which were significantly enriched in the ADHD group, were validated by quantitative (q)PCR. Findings were replicated in an independent sample of 386 young patients with ADHD and 781 young population-based healthy controls. We identified rare CNVs within the parkinson protein 2 gene (PARK2) with a significantly higher prevalence in ADHD patients than in controls (P = 2.8 x 10(-4) after empirical correction for genome-wide testing). In total, the PARK2 locus (chr 6: 162 659 756-162 767 019) harboured three deletions and nine duplications in the ADHD patients and two deletions and two duplications in the controls. By qPCR analysis, we validated 11 of the 12 CNVs in ADHD patients (P = 1.2 x 10(-3) after empirical correction for genome-wide testing). In the replication sample, CNVs at the PARK2 locus were found in four additional ADHD patients and one additional control (P = 4.3 x 10(-2)). Our results suggest that copy number variants at the PARK2 locus contribute to the genetic susceptibility of ADHD. Mutations and CNVs in PARK2 are known to be associated with Parkinson disease.
C1 [Jarick, I.; Nguyen, T. T.] Univ Marburg, Inst Med Biometry & Epidemiol, Marburg, Germany.
[Volckmar, A-L; Dauvermann, M. R.; Beck, S.; Albayrak, Oe; Scherag, S.; Schimmelmann, B. G.; Hebebrand, J.; Hinney, A.] Univ Dusiburg Essen, Dept Child & Adolescent Psychiat, D-45147 Essen, Germany.
[Puetter, C.; Pechlivanis, S.; Joeckel, K-H; Scherag, A.] Univ Dusiburg Essen, Inst Med Informat Biometry & Epidemiol IMIBE, D-45147 Essen, Germany.
[Dauvermann, M. R.; Schimmelmann, B. G.] Univ Bern, Univ Hosp Child & Adolescent Psychiat, Bern, Switzerland.
[Gilsbach, S.; Herpertz-Dahlmann, B.] RWTH Aachen Univ Clin, Dept Child & Adolescent Psychiat Psychosomat & Ps, Aachen, Germany.
[Cichon, S.] Res Ctr Juelich, Inst Neurosci & Med INM 1 Struct & Funct Org Brai, Julich, Germany.
[Cichon, S.; Hoffmann, P.; Degenhardt, F.; Noethen, M. M.] Univ Bonn, Inst Human Genet, Bonn, Germany.
[Cichon, S.; Hoffmann, P.; Degenhardt, F.; Noethen, M. M.] Univ Bonn, Life & Brain Ctr, Deptartment Genom, Bonn, Germany.
[Noethen, M. M.] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany.
[Schreiber, S.] Univ Hosp Schleswig Holstein, Inst Clin Mol Biol, Kiel, Germany.
[Wichmann, H-E; Heinrich, J.; Tiesler, C. M. T.] Helmholtz Ctr Munich, German Res Ctr Environm Hlth, Inst Epidemiol, Neuherberg, Germany.
[Tiesler, C. M. T.] Univ Munich, Dr von Hauner Childrens Hosp, Div Metab Dis & Nutr Med, Munich, Germany.
[Faraone, S. V.] SUNY Upstate Med Univ, Dept Psychiat, Syracuse, NY 13210 USA.
[Faraone, S. V.] SUNY Upstate Med Univ, Dept Neurosci & Physiol, Syracuse, NY 13210 USA.
[Walitza, S.] Univ Zurich, Dept Child & Adolescent Psychiat, Zurich, Switzerland.
[Sinzig, J.; Lehmkuhl, G.] Univ Cologne, Dept Child & Adolescent Psychiat, D-50931 Cologne, Germany.
[Sinzig, J.] LVR Clin Bonn, Dept Child & Adolescent Psychiat & Psychotherapy, Bonn, Germany.
[Freitag, C.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Meyer, J.] Univ Trier, Inst Psychobiol, Dept Neurobehav Genet, Trier, Germany.
[Renner, T. J.; Warnke, A.; Romanos, M.] Univ Wurzburg, Dept Child & Adolescent Psychiat, D-97070 Wurzburg, Germany.
[Romanos, M.] Univ Hosp Munich, Dept Child & Adolescent Psychiat Psychosomat & Ps, Munich, Germany.
[Lesch, K-P] Univ Wurzburg, Div Mol Psychiat, ADHD Clin Res Network,Lab Translat Neurosci, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
[Lesch, K-P] Maastricht Univ, Sch Mental Hlth & Neurosci, Dept Neurosci, Maastricht, Netherlands.
[Reif, A.] Univ Wurzburg, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
RP Hinney, A (reprint author), Univ Dusiburg Essen, Dept Child & Adolescent Psychiat, Virchowstr 174, D-45147 Essen, Germany.
EM anke.hinney@uni-due.de
RI Cichon, Sven/H-8803-2013; Cichon, Sven/B-9618-2014; Renner,
Tobias/I-2120-2013; Hinney, Anke/D-6953-2011; Lesch,
Klaus-Peter/J-4906-2013
OI Cichon, Sven/0000-0002-9475-086X; Cichon, Sven/0000-0002-9475-086X;
Hinney, Anke/0000-0001-5659-0706; Lesch, Klaus-Peter/0000-0001-8348-153X
FU Heinz Nixdorf Foundation, Germany; German Research Association (DFG)
[He1446/9-1, KFO 125, SFB 581, SFB TRR 58/A5, GRK 1253, ME 1923/5-1, ME
1923/5-3, GRK 1389, SCHA 542/10-3]; Bundesministerium fur Bildung und
Forschung (BMBF) [01GV0605]; Medical Faculty, RWTH Aachen, Germany
[START-Program EK 119/05]; European Community [245009]
FX We thank the children and their families for their participation and
support to this study. We are also grateful to all probands from the
community-based cohorts of PopGen, KORA, those from the Heinz Nixdorf
RECALL (HNR) study, and the GINIplus and LISAplus cohorts. We thank the
Heinz Nixdorf Foundation, Germany, for the generous support of the HNR
study. We thank the German Research Association (DFG) who funded the
GWAS analyses and confirmatory studies (He1446/9-1 to J Hebebrand, KP
Lesch, A Hinney and T Renner, KFO 125, SFB 581, SFB TRR 58/A5, GRK 1253
to KP Lesch; ME 1923/5-1, ME 1923/5-3 to J Meyer and CM Freitag, GRK
1389 to J Meyer, SCHA 542/10-3 to H Schafer) and the Bundesministerium
fur Bildung und Forschung (BMBF 01GV0605 to KP Lesch). We thank the
START-Program EK 119/05 of the Medical Faculty, RWTH Aachen, Germany.
The European Community's Seventh Framework Programme (FP7/2007-2013)
under grant agreement no. 245009 supported this study.
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NR 49
TC 9
Z9 9
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 JAN
PY 2014
VL 19
IS 1
BP 115
EP 121
DI 10.1038/mp.2012.161
PG 7
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 279MS
UT WOS:000328964700020
PM 23164820
ER
PT J
AU Dean, DC
Dirks, H
O'Muircheartaigh, J
Walker, L
Jerskey, BA
Lehman, K
Han, M
Waskiewicz, N
Deoni, SCL
AF Dean, Douglas C., III
Dirks, Holly
O'Muircheartaigh, Jonathan
Walker, Lindsay
Jerskey, Beth A.
Lehman, Katie
Han, Michelle
Waskiewicz, Nicole
Deoni, Sean C. L.
TI Pediatric neuroimaging using magnetic resonance imaging during
non-sedated sleep
SO PEDIATRIC RADIOLOGY
LA English
DT Article
DE Magnetic resonance imaging; Pediatric imaging; Brain development;
Neurodevelopment; Sleep; Children
ID BRAIN-DEVELOPMENT; EARLY-CHILDHOOD; LONGITUDINAL DEVELOPMENT; MOTION
CORRECTION; STRUCTURAL MRI; CHILDREN; MATTER; INFANTS; AUTISM; BIRTH
AB Etiological studies of many neurological and psychiatric disorders are increasingly turning toward longitudinal investigations of infant brain development in order to discern predisposing structural and/or functional differences prior to the onset of overt clinical symptoms. While MRI provides a noninvasive window into the developing brain, MRI of infants and toddlers is challenging due to the modality's extreme motion sensitivity and children's difficulty in remaining still during image acquisition.
Here, we outline a broad research protocol for successful MRI of children under 4 years of age during natural, non-sedated sleep.
All children were imaged during natural, non-sedated sleep. Active and passive measures to reduce acoustic noise were implemented to reduce the likelihood of the children waking up during acquisition. Foam cushions and vacuum immobilizers were used to limit intra-scan motion artifacts.
More than 380 MRI datasets have been successfully acquired from 220 children younger than 4 years of age within the past 39 months. Implemented measures permitted children to remain asleep for the duration of the scan and allowed the data to be acquired with an overall 97% success rate.
The proposed method greatly advances current pediatric imaging techniques and may be readily implemented in other research and clinical settings to facilitate and further improve pediatric neuroimaging.
C1 [Dean, Douglas C., III; Dirks, Holly; O'Muircheartaigh, Jonathan; Walker, Lindsay; Lehman, Katie; Han, Michelle; Waskiewicz, Nicole; Deoni, Sean C. L.] Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
[O'Muircheartaigh, Jonathan] Kings Coll London, Dept NeuroImaging Sci, Inst Psychiat, London WC2R 2LS, England.
[Jerskey, Beth A.] Brown Univ, Dept Human Behav & Psychiat, Warren Alpert Med Sch, Providence, RI 02912 USA.
RP Dean, DC (reprint author), Brown Univ, Sch Engn, Adv Baby Imaging Lab, Providence, RI 02912 USA.
EM douglas_dean_iii@brown.edu
FU National Institutes of Mental Health [R01 MH087510]; Wellcome Trust
[096195]
FX The authors wish to thank all the families that donated their time to
take part in this research. This work was supported by the National
Institutes of Mental Health (R01 MH087510). JOM is supported by a Sir
Henry Wellcome Postdoctoral Fellowship awarded by the Wellcome Trust (No
096195).
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NR 30
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0301-0449
EI 1432-1998
J9 PEDIATR RADIOL
JI Pediatr. Radiol.
PD JAN
PY 2014
VL 44
IS 1
BP 64
EP 72
DI 10.1007/s00247-013-2752-8
PG 9
WC Pediatrics; Radiology, Nuclear Medicine & Medical Imaging
SC Pediatrics; Radiology, Nuclear Medicine & Medical Imaging
GA 284YC
UT WOS:000329357300010
PM 23917588
ER
PT J
AU Robins, DL
Casagrande, K
Barton, M
Chen, CMA
Dumont-Mathieu, T
Fein, D
AF Robins, Diana L.
Casagrande, Karis
Barton, Marianne
Chen, Chi-Ming A.
Dumont-Mathieu, Thyde
Fein, Deborah
TI Validation of the Modified Checklist for Autism in Toddlers, Revised
With Follow-up (M-CHAT-R/F)
SO PEDIATRICS
LA English
DT Article
DE autism; screening; toddlers
ID SPECTRUM DISORDERS; CHILDREN
AB OBJECTIVE: This study validates the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), a screening tool for low-risk toddlers, and demonstrates improved utility compared with the original M-CHAT.
METHODS: Toddlers (N = 16 071) were screened during 18- and 24-month well-child care visits in metropolitan Atlanta and Connecticut. Parents of toddlers at risk on M-CHAT-R completed follow-up; those who continued to show risk were evaluated.
RESULTS: The reliability and validity of the M-CHAT-R/F were demonstrated, and optimal scoring was determined by using receiver operating characteristic curves. Children whose total score was >= 3 initially and >= 2 after follow-up had a 47.5% risk of being diagnosed with autism spectrum disorder (ASD; confidence interval [95% CI]: 0.41-0.54) and a 94.6% risk of any developmental delay or concern (95% CI: 0.92-0.98). Total score was more effective than alternative scores. An algorithm based on 3 risk levels is recommended to maximize clinical utility and to reduce age of diagnosis and onset of early intervention. The M-CHAT-R detects ASD at a higher rate compared with the M-CHAT while also reducing the number of children needing the follow-up. Children in the current study were diagnosed 2 years younger than the national median age of diagnosis.
CONCLUSIONS: The M-CHAT-R/F detects many cases of ASD in toddlers; physicians using the 2-stage screener can be confident that most screen-positive cases warrant evaluation and referral for early intervention. Widespread implementation of universal screening can lower the age of ASD diagnosis by 2 years compared with recent surveillance findings, increasing time available for early intervention.
C1 [Robins, Diana L.; Casagrande, Karis] Georgia State Univ, Dept Psychol, Atlanta, GA 30302 USA.
[Robins, Diana L.] Georgia State Univ, Inst Neurosci, Atlanta, GA 30302 USA.
[Barton, Marianne; Chen, Chi-Ming A.; Dumont-Mathieu, Thyde; Fein, Deborah] Univ Connecticut, Dept Psychol, Storrs, CT USA.
[Dumont-Mathieu, Thyde; Fein, Deborah] Univ Connecticut, Dept Pediat, Storrs, CT USA.
RP Robins, DL (reprint author), Georgia State Univ, Dept Psychol, POB 5010, Atlanta, GA 30302 USA.
EM drobins@gsu.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [and Human Development grant R01HD039961]; National
Institutes of Health (NIH)
FX This study was supported by Eunice Kennedy Shriver National Institute of
Child Health and Human Development grant R01HD039961. Funded by the
National Institutes of Health (NIH).
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Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators Centers for Disease Control and Prevention, 2012, MMWR SURVEILL SUMM, V61, P1
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Barton M., 2012, TODDLER ASD SYMPTOM
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NR 28
TC 14
Z9 15
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 JAN
PY 2014
VL 133
IS 1
BP 37
EP 45
DI 10.1542/peds.2013-1813
PG 9
WC Pediatrics
SC Pediatrics
GA 282JX
UT WOS:000329168400042
PM 24366990
ER
PT J
AU Doshi-Velez, F
Ge, YR
Kohane, I
AF Doshi-Velez, Finale
Ge, Yaorong
Kohane, Isaac
TI Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health
Record Time-Series Analysis
SO PEDIATRICS
LA English
DT Article
DE autism; seizure; psychiatric disorders; comorbidity; clustering
ID DUCHENNE MUSCULAR-DYSTROPHY; CORONARY-HEART-DISEASE; NEUROPSYCHIATRIC
DISORDERS; MENTAL-RETARDATION; GENE-EXPRESSION; CHILDREN; EPILEPSY;
ANXIETY; ASSOCIATION; ABNORMALITIES
AB OBJECTIVE: The distinct trajectories of patients with autism spectrum disorders (ASDs) have not been extensively studied, particularly regarding clinical manifestations beyond the neurobehavioral criteria from the Diagnostic and Statistical Manual of Mental Disorders. The objective of this study was to investigate the patterns of co-occurrence of medical comorbidities in ASDs.
METHODS: International Classification of Diseases, Ninth Revision codes from patients aged at least 15 years and a diagnosis of ASD were obtained from electronic medical records. These codes were aggregated by using phenotype-wide association studies categories and processed into 1350-dimensional vectors describing the counts of the most common categories in 6-month blocks between the ages of 0 to 15. Hierarchical clustering was used to identify subgroups with distinct courses.
RESULTS: Four subgroups were identified. The first was characterized by seizures (n = 120, subgroup prevalence 77.5%). The second (n = 197) was characterized by multisystem disorders including gastrointestinal disorders (prevalence 24.3%) and auditory disorders and infections (prevalence 87.8%), and the third was characterized by psychiatric disorders (n = 212, prevalence 33.0%). The last group (n = 4316) could not be further resolved. The prevalence of psychiatric disorders was un-correlated with seizure activity (P =.17), but a significant correlation existed between gastrointestinal disorders and seizures (P < .001). The correlation results were replicated by using a second sample of 496 individuals from a different geographic region.
CONCLUSIONS: Three distinct patterns of medical trajectories were identified by unsupervised clustering of electronic health record diagnoses. These may point to distinct etiologies with different genetic and environmental contributions. Additional clinical and molecular characterizations will be required to further delineate these subgroups.
C1 [Doshi-Velez, Finale; Kohane, Isaac] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[Ge, Yaorong] Wake Forest Univ, Ctr Biomed Informat, Winston Salem, NC 27109 USA.
RP Doshi-Velez, F (reprint author), Harvard Univ, Sch Med, Ctr Biomed Informat, 10 Shattuck St, Boston, MA 02115 USA.
EM finale_doshi-velez@hms.harvard.edu
FU Informatics for Integrating Biology; Bedside NIH [2U54 LM008748];
National Science Foundation under a CI TraCS grant; Conte Center for
Computational Neuropsychiatric Genomics [NIH P50MH94267]; National
Institutes of Health (NIH)
FX All phases of this study were supported by the Informatics for
Integrating Biology and the Bedside NIH #2U54 LM008748. Dr Doshi-Velez
is supported by the National Science Foundation under a CI TraCS grant
awarded in 2012. Also funded by the Conte Center for Computational
Neuropsychiatric Genomics (NIH P50MH94267). Funded by the National
Institutes of Health (NIH).
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NR 69
TC 8
Z9 8
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 JAN
PY 2014
VL 133
IS 1
BP E54
EP E63
DI 10.1542/peds.2013-0819
PG 10
WC Pediatrics
SC Pediatrics
GA 282JX
UT WOS:000329168400008
PM 24323995
ER
PT J
AU Wheeler, A
Raspa, M
Bann, C
Bishop, E
Hessl, D
Sacco, P
Bailey, DB
AF Wheeler, Anne
Raspa, Melissa
Bann, Carla
Bishop, Ellen
Hessl, David
Sacco, Pat
Bailey, Donald B., Jr.
TI Anxiety, Attention Problems, Hyperactivity, and the Aberrant Behavior
Checklist in Fragile X Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE fragile X syndrome; behavior symptoms; anxiety; attention deficit
hyperactivity disorder
ID AUTISM SPECTRUM DISORDER; QUALITY-OF-LIFE; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; ADHD SYMPTOMS; PARENT SURVEY; DOUBLE-BLIND;
CHILDREN; ADULTS; BOYS
AB Behavior problems are a common challenge for individuals with fragile X syndrome (FXS) and constitute the primary clinical outcome domain in trials testing new FXS medications. However, little is known about the relationship between caregiver-reported behavior problems and co-occurring conditions such as anxiety and attention problems. In this study, 350 caregivers, each with at least one son or daughter with full-mutation FXS, rated one of their children with FXS using the Aberrant Behavior ChecklistCommunity Version (ABC-C); the Anxiety subscale of the Anxiety, Depression, and Mood Scale; and the Attention/Hyperactivity Items from the Symptom Inventories. In addition to examining family consequences of these behaviors, this study also sought to replicate psychometric findings for the ABC-C in FXS, to provide greater confidence for its use in clinical trials with this population. Psychometric properties and baseline ratings of problem behavior were consistent with other recent studies, further establishing the profile of problem behavior in FXS. Cross-sectional analyses suggest that selected dimensions of problem behavior, anxiety, and hyperactivity are age related; thus, age should serve as an important control in any studies of problem behavior in FXS. Measures of anxiety, attention, and hyperactivity were highly associated with behavior problems, suggesting that these factors at least coincide with problem behavior. However, these problems generally did not add substantially to variance in caregiver burden predicted by elevated behavior problems. The results provide further evidence of the incidence of problem behaviors and co-occurring conditions in FXS and the impact of these behaviors on the family. (c) 2013 Wiley Periodicals, Inc.
C1 [Wheeler, Anne] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
[Raspa, Melissa; Bann, Carla; Bishop, Ellen; Bailey, Donald B., Jr.] RTI Int, Social Stat & Environm Sci, Res Triangle Pk, NC 27709 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Med Ctr, MIND Inst, Davis, CA 95616 USA.
[Hessl, David] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Sacco, Pat] Novartis Pharmaceut, E Hanover, NJ USA.
RP Bailey, DB (reprint author), RTI Int, Social Stat & Environm Sci, 3040 Cornwallis Rd, Res Triangle Pk, NC 27709 USA.
EM dbailey@rti.org
FU Novartis Pharmaceutical Corporation
FX Grant sponsor: Novartis Pharmaceutical Corporation.
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NR 60
TC 4
Z9 4
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 JAN
PY 2014
VL 164
IS 1
BP 141
EP 155
DI 10.1002/ajmg.a.36232
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900019
PM 24352914
ER
PT J
AU Terrone, G
Cappuccio, G
Genesio, R
Esposito, A
Fiorentino, V
Riccitelli, M
Nitsch, L
Brunetti-Pierri, N
Del Giudice, E
AF Terrone, Gaetano
Cappuccio, Gerarda
Genesio, Rita
Esposito, Annalisa
Fiorentino, Valeria
Riccitelli, Marina
Nitsch, Lucio
Brunetti-Pierri, Nicola
Del Giudice, Ennio
TI A Case of 14q11.2 Microdeletion With Autistic Features, Severe Obesity
and Facial Dysmorphisms Suggestive of Wolf-Hirschhorn Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 14q11; 2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf-Hirschhorn
syndrome
ID SPECTRUM DISORDERS; DNA-DAMAGE; MICE; REPAIR
AB We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. (c) 2013 Wiley Periodicals, Inc.
C1 [Terrone, Gaetano; Cappuccio, Gerarda; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, Marina; Brunetti-Pierri, Nicola; Del Giudice, Ennio] Univ Naples Federico II, Dept Translat Med, Sect Pediat, Naples, Italy.
[Genesio, Rita; Nitsch, Lucio] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy.
RP Terrone, G (reprint author), Univ Naples Federico II, Dept Translat Med, Sect Pediat, Naples, Italy.
EM gaetanoterrone@virgilio.it
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NR 14
TC 2
Z9 3
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 JAN
PY 2014
VL 164
IS 1
BP 190
EP 193
DI 10.1002/ajmg.a.36200
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900026
PM 24243641
ER
PT J
AU Okamoto, N
Fujii, T
Tanaka, J
Saito, K
Matsui, T
Harada, N
AF Okamoto, Nobuhiko
Fujii, Tatsuya
Tanaka, Junko
Saito, Kazumasa
Matsui, Takeshi
Harada, Naoki
TI A Clinical Study of Patients With Pericentromeric Deletion and
Duplication Within 16p12.2-p11.2
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 16p12; 2-p11; 2 deletion; 16p12; 2-p11; 2 duplication; SNP array;
chromosomal aberration
ID MICRODELETION SYNDROME; DEVELOPMENTAL DELAY; 16P11.2; AUTISM;
MICRODUPLICATION; OBESITY
AB The short arm of chromosome 16 is rich in segmental duplications that result in chromosomal rearrangements through non-allelic homologous recombination. Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significant delay in speech development, and recurrent ear infections. Reciprocal duplications of 16p12.2-p11.2 have been reported in some patients with autism. We identified a patient with a 16p12.2-p11.2 deletion and a patient with a 16p12.2-p11.2 duplication using oligonucleotide SNP array. The patient with the deletion showed severe developmental delay without autism. The patient with the deletion shared clinical features with previously reported patients. The patient with the duplication showed mild developmental delay and autism. She had dysmorphic features including a round face, a large mouth, and relative macrocephaly. We reviewed the reports of the two syndromes and compared the clinical manifestations. The 16p12.2-p11.2 duplication syndrome is a new syndrome with autism spectral disorders and dysmorphic features. (c) 2013 Wiley Periodicals, Inc.
C1 [Okamoto, Nobuhiko] Osaka Med Ctr, Dept Med Genet, Osaka 5941101, Japan.
[Okamoto, Nobuhiko] Res Inst Maternal & Child Hlth, Osaka, Japan.
[Fujii, Tatsuya] Shiga Med Ctr Children, Dept Pediat, Shiga, Japan.
[Tanaka, Junko] Tanaka Kitaumeda Clin, Osaka, Japan.
[Saito, Kazumasa; Matsui, Takeshi; Harada, Naoki] Mitsubishi Chem Med Corp, Dept Mol Genet Res, Tokyo, Japan.
RP Okamoto, N (reprint author), Osaka Med Ctr, Res Inst Maternal, Dept Med Genet, Izumi Ku, 840 Murodo Cho, Osaka 5941101, Japan.
EM okamoto@osaka.email.ne.jp
FU Ministry of Health, Labor, and Welfare in Japan
FX We thank for the family for their cooperation. This study was supported
by the Health and Labor Research Grants in 2012 by Ministry of Health,
Labor, and Welfare in Japan.
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NR 15
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 JAN
PY 2014
VL 164
IS 1
BP 213
EP 219
DI 10.1002/ajmg.a.36217
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900031
PM 24259393
ER
PT J
AU Pua, HH
Krishnamurthi, S
Farrell, J
Margeta, M
Ursell, PC
Powers, M
Slavotinek, AM
Jeng, LJB
AF Pua, Heather H.
Krishnamurthi, Swetha
Farrell, Jessica
Margeta, Marta
Ursell, Philip C.
Powers, Martin
Slavotinek, Anne M.
Jeng, Linda J. B.
TI Novel Interstitial 2.6 Mb Deletion on 9q21 Associated With Multiple
Congenital Anomalies
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 9q21 deletion; craniofacial abnormalities; cleft palate; heart septal
defects; atrial; bicorunate uterus; hip dislocation; muscle hypotonia;
comparative genomic hybridization
ID MYELOID-LEUKEMIA; IDENTIFICATION; DROSOPHILA; MELANOMA; COMPLEX;
PROTEIN; GTPASE; GENOME; ROLES
AB Array comparative genomic hybridization (aCGH) is now commonly used to identify copy number changes in individuals with developmental delay, intellectual disabilities, autism spectrum disorders, and/or multiple congenital anomalies. We report on an infant with multiple congenital anomalies and a novel 2.6Mb interstitial deletion within 9q21.32q21.33 detected by aCGH. Her clinical presentation included dysmorphic craniofacial features, cleft palate, atrial septal defect, bicornuate uterus, bilateral hip dislocation, hypotonia, and recurrent pneumonia. Parental aCGH studies were negative for copy loss in this region. To our knowledge, no similar deletions have been reported in available databases or published literature. This deletion encompasses 12 genes, and prediction algorithms as well as experimental data suggest that a subset is likely to be haploinsufficient. Included are a neurotrophin receptor (NKG2D), a gene implicated in cilia function (KIF27), an adaptor protein important for ubiquitin-dependent protein quality control (UBQLN1), a gene important for transcription and signaling (HNRNPK), and a gene involved in maintaining genomic stability (RMI1). Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies. (c) 2013 Wiley Periodicals, Inc.
C1 [Pua, Heather H.; Farrell, Jessica; Margeta, Marta; Ursell, Philip C.; Powers, Martin] Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA.
[Krishnamurthi, Swetha; Slavotinek, Anne M.] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA.
[Powers, Martin; Jeng, Linda J. B.] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94143 USA.
RP Jeng, LJB (reprint author), UCSF Clin Labs China Basin, Dept Lab Med, 185 Berry St,Suite 290, San Francisco, CA 94107 USA.
EM jengl@labmed2.ucsf.edu
FU Wellcome Trust
FX Grant sponsor: Wellcome Trust.
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NR 27
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 JAN
PY 2014
VL 164
IS 1
BP 237
EP 242
DI 10.1002/ajmg.a.36230
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 276FV
UT WOS:000328734900035
PM 24501764
ER
PT J
AU Van den Eynde, K
Missault, S
Fransen, E
Raeymaekers, L
Willems, R
Drinkenburg, W
Timmermans, JP
Kumar-Singh, S
Dedeurwaerdere, S
AF Van den Eynde, Karlien
Missault, Stephan
Fransen, Erik
Raeymaekers, Leen
Willems, Roland
Drinkenburg, Wilhelmus
Timmermans, Jean-Pierre
Kumar-Singh, Samir
Dedeurwaerdere, Stefanie
TI Hypolocomotive behaviour associated with increased microglia in a
prenatal immune activation model with relevance to schizophrenia
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Poly I:C; Maternal immune activation; Neuroinflammation; Schizophrenia;
Autism; Locomotion
ID DISRUPTED LATENT INHIBITION; PLACEBO-CONTROLLED TRIAL; PREPULSE
INHIBITION; ANIMAL-MODEL; DOUBLE-BLIND; ADULT RATS; BRAIN; CHALLENGE;
PREGNANCY; CELECOXIB
AB Over the past decade a neurodevelopmental animal model with high validity for schizophrenia has been developed based on the environmental risk factor known as maternal immune activation (MIA). The immunological basis of this model, together with extensive data from clinical and preclinical context, suggests the involvement of an aberrant neuro-immune system in the pathophysiology of schizophrenia. The goal of this study was to examine microglia activation in adult behaviourally phenotyped MIA offspring. MIA was induced in pregnant rats using viral mimetic Poly I:C at gestational day 15. Adult offspring were behaviourally phenotyped at postnatal days (PND) 56,90 and 180 through the evaluation of prepulse inhibition (PPI) of the acoustic startle and spontaneous locomotion. Finally, the presence of activated microglia in brain regions associated with schizophrenia was evaluated using post-mortem immunohistochemistry against OX-42 (CD11b) and ED-1 (CD68). Although a deficit in PPI could not be replicated despite the high number of animals tested, we found an overall decrease in basal startle response and spontaneous locomotion in offspring born to Poly I:C- compared to saline-treated dams, accompanied by increased microglial density with characteristics of non-reactive activation in the chronic stage of the model. These findings provide additional evidence for a role played by microglial activation in schizophrenia-related pathology in general and psychomotor slowing in particular, and warrant extensive research on the underlying mechanism in order to establish new drug targets for the treatment of schizophrenia patients with an inflammatory component. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Van den Eynde, Karlien; Missault, Stephan; Dedeurwaerdere, Stefanie] Univ Antwerp, Expt Lab Translat Neurosci & Otolaryngol, B-2610 Antwerp, Belgium.
[Fransen, Erik] Univ Antwerp, StatUA, B-2650 Edegem, Belgium.
[Raeymaekers, Leen; Willems, Roland; Drinkenburg, Wilhelmus] Div Janssen Pharmaceut NV, Janssen Res & Dev, B-2340 Beerse, Belgium.
[Timmermans, Jean-Pierre; Kumar-Singh, Samir] Univ Antwerp, Lab Cell Biol & Histol, B-2020 Antwerp, Belgium.
RP Dedeurwaerdere, S (reprint author), Univ Antwerp, Expt Lab Translat Neurosci & Otolaryngol, Campus Drie Eiken,DT 420,Univ Pl 1, B-2610 Antwerp, Belgium.
EM Stefanie.Dedeurwaerdere@ua.ac.be
RI Fransen, Erik/C-4102-2015
OI Fransen, Erik/0000-0001-7785-4790
FU Johnson Johnson; Research Foundation Flanders (FWO) [G.0586.12];
Bijzonder OnderzoeksFonds (BOF) of the University of Antwerp; PhD
fellowship "FWO aspirant"
FX The present study was supported by Johnson & Johnson, Research
Foundation Flanders (FWO) funding (G.0586.12) and Bijzonder
OnderzoeksFonds (BOF) of the University of Antwerp. Stephan Missault is
supported by a PhD fellowship "FWO aspirant". We are extremely grateful
to Isabel Pintelon, Annemie Van Eetveldt and Krystyna Szewczyk for their
support with the immunohistochemical studies.
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NR 55
TC 4
Z9 4
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 JAN 1
PY 2014
VL 258
BP 179
EP 186
DI 10.1016/j.bbr.2013.10.005
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 277FT
UT WOS:000328805100022
PM 24129217
ER
PT J
AU King, BH
de Lacy, N
Siegel, M
AF King, Bryan H.
de Lacy, Nina
Siegel, Matthew
TI Psychiatric Assessment of Severe Presentations in Autism Spectrum
Disorders and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Self-injury; Aggression; Hyperactivity;
Psychiatric evaluation
ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; MENTAL-RETARDATION;
DEVELOPMENTAL DELAY; REFERRED POPULATION; BEHAVIORAL-PROBLEMS;
LIFE-EVENTS; CHILDREN; ADULTS; ADHD
AB Children with autism spectrum and related disorders and intellectual disability are not protected from the experience of psychiatric illnesses. Many factors can contribute to exacerbation of existing behavioral symptoms or to the emergence of new psychiatric problems. The psychiatric assessment must thus take into account a range of possible etiologic or contributory factors. The approach outlined in this article highlights the value of assessing 4 broad domains, including diagnostic (genetic) factors, medical considerations, developmental influences, and environmental factors. Examples of how the consideration of each of these domains may inform the diagnostic formulation are highlighted.
C1 [King, Bryan H.] Seattle Childrens Hosp, Seattle Childrens Autism Ctr, Dept Psychiat & Behav Med, Seattle, WA USA.
[King, Bryan H.; de Lacy, Nina] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Siegel, Matthew] Tufts Univ, Sch Med, Boston, MA 02111 USA.
[Siegel, Matthew] Maine Med Ctr, Res Inst, Westbrook, ME USA.
RP King, BH (reprint author), Seattle Childrens Hosp, Seattle Childrens Autism Ctr, Dept Psychiat & Behav Med, Seattle, WA USA.
EM bhking@u.washington.edu
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NR 63
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 JAN
PY 2014
VL 23
IS 1
BP 1
EP +
DI 10.1016/j.chc.2013.07.001
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400002
PM 24231163
ER
PT J
AU Mazefsky, CA
White, SW
AF Mazefsky, Carla A.
White, Susan W.
TI Emotion Regulation Concepts & Practice in Autism Spectrum Disorder
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Emotion regulation; Autism spectrum disorder; Therapy; Behavioral
problems; Review
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIOR THERAPY; ANXIETY DISORDERS;
ASPERGERS-SYNDROME; CHILDREN; PSYCHOPATHOLOGY; DEPRESSION; ADULTS;
ADOLESCENCE; MINDFULNESS
AB The purpose of this article is to describe emotion regulation, and how emotion regulation may be compromised in patients with autism spectrum disorder (ASD). This information may be useful for clinicians working with children with ASD who exhibit behavioral problems. Suggestions for practice are provided.
C1 [Mazefsky, Carla A.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[White, Susan W.] Virginia Tech, Dept Psychol, Blacksburg, VA 24061 USA.
RP Mazefsky, CA (reprint author), Univ Pittsburgh, Sch Med, Dept Psychiat, 3811 OHara St,Webster Hall,Suite 300, Pittsburgh, PA 15213 USA.
EM mazefskyca@upmc.edu
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NR 61
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 15
EP +
DI 10.1016/j.chc.2013.07.002
PG 11
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400003
PM 24231164
ER
PT J
AU Doehring, P
Reichow, B
Palka, T
Phillips, C
Hagopian, L
AF Doehring, Peter
Reichow, Brian
Palka, Tamara
Phillips, Cara
Hagopian, Louis
TI Behavioral Approaches to Managing Severe Problem Behaviors in Children
with Autism Spectrum and Related Developmental Disorders A Descriptive
Analysis
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Aggression; Self-injury; Behavioral
intervention; Applied behavior analysis; Outcome research; Children
ID SELF-INJURIOUS-BEHAVIOR; INTELLECTUAL DISABILITIES; CHALLENGING
BEHAVIORS; FUNCTIONAL-ANALYSIS; INDIVIDUALS; RISK; INTERVENTION;
MANAGEMENT; RESTRAINT; ISSUES
AB Severe problem behaviors such as aggression, self-injury, and property destruction can result in injury, and require specialized and expensive treatment. This article reviews outcome research published since 1995 that used behavioral techniques to decrease severe problem behaviors among children and adolescents with autism spectrum disorder and/or intellectual disability. Many relatively simple interventions were reported to significantly reduce severe problem behavior, which offers hope for practitioners. Nonetheless, these studies also reveal a risk for injury and a need for specialized assessment and placement, careful tracking, and high-quality treatment that few agencies could likely replicate without increases in training and support.
C1 [Doehring, Peter] ASD Roadmap, Chadds Ford, PA 19317 USA.
[Reichow, Brian] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA.
[Palka, Tamara] Fdn Behav Hlth, Dev Disorders Unit, Doylestown, PA 18901 USA.
[Phillips, Cara] Johns Hopkins Sch Med, Kennedy Krieger Inst, Neurobehav Inpatient Unit, Baltimore, MD 21205 USA.
[Hagopian, Louis] Johns Hopkins Univ, Dept Psychiat & Behav Sci, Johns Hopkins Sch Med, Sch Med,Neurobehav Inpatient Unit, Baltimore, MD 21205 USA.
RP Doehring, P (reprint author), ASD Roadmap, 5 9 Gates Rd, Chadds Ford, PA 19317 USA.
EM peter@asdroadmap.org
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NR 48
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 JAN
PY 2014
VL 23
IS 1
BP 25
EP +
DI 10.1016/j.chc.2013.08.001
PG 17
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400004
PM 24231165
ER
PT J
AU Hutchins, TL
Prelock, PA
AF Hutchins, Tiffany L.
Prelock, Patricia A.
TI Using Communication to Reduce Challenging Behaviors in Individuals with
Autism Spectrum Disorders and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism Spectrum Disorder; Intellectual Disability; Communication;
Behavior; Intervention
ID YOUNG-CHILDREN; DISRUPTIVE BEHAVIOR; PRESCHOOL-CHILDREN; TOTAL
POPULATION; SOCIAL STORIES; RISK-FACTORS; SYSTEM PECS; PLAY SKILLS;
PHASE-III; LANGUAGE
AB This article describes the relationship between expressive communication impairments and common challenging behaviors in individuals with Autism Spectrum Disorder and Intellectual Disability. The communication challenges of individuals with Autism Spectrum Disorder/Intellectual Disability are described and several evidence-based intervention strategies are proposed to support communication so as to decrease challenging behaviors. Recommendations for practice are offered.
C1 [Hutchins, Tiffany L.] Univ Vermont, Dept Commun Sci & Disorders, Burlington, VT 05405 USA.
[Prelock, Patricia A.] Univ Vermont, Dept Commun Sci & Disorders, Coll Nursing & Hlth Sci, Deans Off, Burlington, VT 05405 USA.
[Prelock, Patricia A.] Univ Vermont, Coll Med, Burlington, VT 05405 USA.
RP Hutchins, TL (reprint author), Univ Vermont, Dept Commun Sci & Disorders, 407 Pomeroy Hall,489 Main St, Burlington, VT 05405 USA.
EM Tiffany.Hutchins@uvm.edu
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NR 83
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 41
EP +
DI 10.1016/j.chc.2013.07.003
PG 16
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400005
PM 24231166
ER
PT J
AU Carroll, D
Hallett, V
McDougle, CJ
Aman, MG
McCracken, JT
Tierney, E
Arnold, LE
Sukhodolsky, DG
Lecavalier, L
Handen, BL
Swiezy, N
Johnson, C
Bearss, K
Vitiello, B
Scahill, L
AF Carroll, Devon
Hallett, Victoria
McDougle, Christopher J.
Aman, Michael G.
McCracken, James T.
Tierney, Elaine
Arnold, L. Eugene
Sukhodolsky, Denis G.
Lecavalier, Luc
Handen, Benjamin L.
Swiezy, Naomi
Johnson, Cynthia
Bearss, Karen
Vitiello, Benedetto
Scahill, Lawrence
TI Examination of Aggression and Self-injury in Children with Autism
Spectrum Disorders and Serious Behavioral Problems
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Aggression; Self-injury; Autism; Disruptive behavior
ID PERVASIVE DEVELOPMENTAL DISORDERS; PROACTIVE AGGRESSION; YOUNG-PEOPLE;
IMPULSIVE AGGRESSION; ADOLESCENTS; RISPERIDONE; MEDICATION; TRIAL;
PSYCHIATRY; HYPERACTIVITY
AB This study identified subtypes of aggression in a sample of 206 children with autism spectrum disorder (ASD) who participated in 2 risperidone trials. The narratives were derived from a parent interview about each child's 2 most pressing problems. Five subtypes of aggression emerged: hot aggression only, cold aggression only, self-injurious behavior (SIB) only, aggression and SIB, and nonaggressive. All groups showed a high rate of positive response to risperidone with no differences across subtypes. These study findings extend understanding of aggression in ASD and may be useful to guide further study on biological mechanisms and individualized treatment in ASD.
C1 [Carroll, Devon] Family & Childrens Aid, Danbury, CT USA.
[Hallett, Victoria] Kings Coll London, London, England.
[McDougle, Christopher J.] Harvard Univ, Cambridge, MA 02138 USA.
[Aman, Michael G.; Arnold, L. Eugene; Lecavalier, Luc] Ohio State Univ, Columbus, OH 43210 USA.
[McCracken, James T.] Univ Calif Los Angeles, Los Angeles, CA USA.
[Tierney, Elaine] Kennedy Krieger Baltimore, Baltimore, MD USA.
[Sukhodolsky, Denis G.] Yale Univ, New Haven, CT 06520 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Sch Med, Western Psychiat Inst, Pittsburgh, PA 15260 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15260 USA.
[Handen, Benjamin L.] Univ Pittsburgh, Dept Educ Psychol, Pittsburgh, PA USA.
[Johnson, Cynthia] Univ Pittsburgh, Pittsburgh, PA USA.
[Swiezy, Naomi] Indiana Univ, Bloomington, IN 47405 USA.
[Bearss, Karen; Scahill, Lawrence] Emory Univ, Atlanta, GA 30322 USA.
[Vitiello, Benedetto] NIMH, Bethesda, MD USA.
RP Scahill, L (reprint author), Marcus Ctr, 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM lawrence.scahill@emory.edu
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NR 54
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 57
EP +
DI 10.1016/j.chc.2013.08.002
PG 17
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400006
PM 24231167
ER
PT J
AU Stigler, KA
AF Stigler, Kimberly A.
TI Psychopharmacologic Management of Serious Behavioral Disturbance in ASD
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Autism spectrum disorders; Aggression; Irritability;
Self-injury; Psychopharmacology
ID PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG AUTISTIC-CHILDREN; OPEN-LABEL;
DOUBLE-BLIND; OPEN TRIAL; RISPERIDONE TREATMENT; SPECTRUM DISORDERS;
PEDIATRIC-PATIENTS; ADOLESCENTS; PLACEBO
AB Individuals diagnosed with autism spectrum disorders (ASD) often exhibit serious behavioral disturbance (irritability) including severe tantrums, aggression, and self-injury that requires pharmacologic management. Research focused on the treatment of severe irritability has primarily involved the atypical antipsychotics, including risperidone and aripiprazole. Anticonvulsants have also been investigated for targeting serious behavioral disturbance; however findings have been mixed. Advances in the pharmacotherapy of irritability in ASD continue to inform practice. Research is needed to develop safer and more effective drug treatments for serious behavioral disturbance in this population.
C1 Indiana Univ Sch Med, Riley Hosp Children, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, Indianapolis, IN 46202 USA.
RP Stigler, KA (reprint author), Indiana Univ Sch Med, Riley Hosp Children, Dept Psychiat, Christian Sarkine Autism Treatment Ctr, Room 4300,705 Riley Hosp Dr, Indianapolis, IN 46202 USA.
EM kstigler@iupui.edu
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NR 45
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 JAN
PY 2014
VL 23
IS 1
BP 73
EP +
DI 10.1016/j.chc.2013.07.005
PG 11
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400007
PM 24231168
ER
PT J
AU McGonigle, JJ
Venkat, A
Beresford, C
Campbell, TP
Gabriels, RL
AF McGonigle, John J.
Venkat, Arvind
Beresford, Carol
Campbell, Thomas P.
Gabriels, Robin L.
TI Management of Agitation in Individuals with Autism Spectrum Disorders in
the Emergency Department
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Emergency department; Crisis management;
Acute agitation; Emergency evaluation and treatment; Least-restrictive
treatment model; Restraint
ID PSYCHIATRIC-DISORDERS; CHILDREN; MIDAZOLAM; BEHAVIORS; PREVALENCE;
DIAGNOSIS; FEATURES; PATIENT; RATES; CARE
AB Individuals with autism spectrum disorder (ASD) presenting with acute agitation in emergency departments (ED) during a crisis situation present both diagnostic and treatment challenges for ED personnel, families, caregivers, and patients seeking treatment. This article describes the challenges that individuals with ASD face when receiving treatment in crisis and emergency settings. Additionally, this article provides information for emergency physicians, ED personnel, and crisis response teams on a systematic, minimally restrictive approach when assessing and providing treatment to patients with ASD presenting with acute agitation in ED settings.
C1 [McGonigle, John J.] Univ Pittsburgh, Sch Med, Western Psychiat Inst, Pittsburgh, PA 15213 USA.
[McGonigle, John J.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15213 USA.
[Venkat, Arvind; Campbell, Thomas P.] West Penn Allegheny Hlth Syst, Dept Emergency Med, Pittsburgh, PA 15212 USA.
[Beresford, Carol; Gabriels, Robin L.] Univ Colorado Denver, Childrens Hosp Colorado, Dept Psychiat, Aurora, CO 80045 USA.
RP McGonigle, JJ (reprint author), Univ Pittsburgh, Sch Med, Western Psychiat Inst, 3811 OHara St, Pittsburgh, PA 15213 USA.
EM mcgoniglejj@upmc.edu
CR Allen MH, 2005, J PSYCHIAT PRACT S1, V11, P4
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT, V4
[Anonymous], 2007, DORLANDS MED DICT HL
Autism Society of America (ASA), TIPS 1 RESP
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NR 52
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 83
EP +
DI 10.1016/j.chc.2013.08.003
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400008
PM 24231169
ER
PT J
AU Lubetsky, MJ
Handen, BL
Lubetsky, M
McGonigle, JJ
AF Lubetsky, Martin J.
Handen, Benjamin L.
Lubetsky, Michelle
McGonigle, John J.
TI Systems of Care for Individuals with Autism Spectrum Disorder and
Serious Behavioral Disturbance Through the Lifespan
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Systems of care; Service delivery; Early intervention;
Department of Developmental and Intellectual Disabilities; Department of
Education; Department of Mental Health/Behavioral Health; Office of
Vocational Rehabilitation
ID CHILDREN
AB Individuals with Autism Spectrum Disorder present with unique characteristics, and the interventions designed to address associated challenging behaviors must be highly individualized to best meet their needs and those of their families. This article reviews systems of care to support the child, adolescent, or adult with Autism Spectrum Disorder and/or Intellectual Disability. The review describes mental health/behavioral health services, Intellectual Disability and other support systems, and the systems involved in a child and adolescent's life and transition to adulthood. The types of systems and services, as well as barriers, are delineated with a brief listing of Web sites and references.
C1 [Lubetsky, Martin J.; Handen, Benjamin L.; McGonigle, John J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Western Psychiat Inst, Pittsburgh, PA 15213 USA.
[Lubetsky, Martin J.; Handen, Benjamin L.; McGonigle, John J.] Univ Pittsburgh, Sch Med, Clin UPMC, Pittsburgh, PA 15213 USA.
[Lubetsky, Michelle] Allegheny Intermediate Unit, Homestead, PA 15120 USA.
RP Lubetsky, MJ (reprint author), Univ Pittsburgh, Sch Med, Dept Psychiat, Western Psychiat Inst, 3811 OHara St, Pittsburgh, PA 15213 USA.
EM lubetskymj@upmc.edu
CR [Anonymous], 2004, PENNSYLVANIA AUTISM
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[Anonymous], 2012, APPL PRINC MAN CAR A
[Anonymous], 2012, ADDR NEEDS IND AUT S
[Anonymous], 2011, PENNSYLVANIA AUTISM
[Anonymous], 2012, DISCUSSION SYSTEM DE
[Anonymous], 2012, AUT CAL 2012 SURV
[Anonymous], 2009, PENNSYLVANIA ADULT A
[Anonymous], 2012, PUTT PIEC TOG
[Anonymous], 2012, EXPLORATION FISCAL R
[Anonymous], 2012, INS COV AUT
Autism Screening and Diagnosis for Healthcare Providers Centers for Disease Control and Prevention, 2012, AUT SCREEN DIAGN HEA
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Lubetsky MJ, 2011, AUTISM SPECTRUM DISO
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Roles for State Title V Programs, 2011, ROL STAT TITL 5 PROG
Swiezy NS, 2009, CHILD ADOL PSYCH CL, V17, P907
NR 28
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 JAN
PY 2014
VL 23
IS 1
BP 97
EP +
DI 10.1016/j.chc.2013.08.004
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400009
PM 24231170
ER
PT J
AU McNellis, CA
Harris, T
AF McNellis, Carol Anne
Harris, Todd
TI Residential Treatment of Serious Behavioral Disturbance in Autism
Spectrum Disorder and Intellectual Disability
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism; Intellectual disability; Serious behavioral disturbance;
Residential treatment
ID SEVERELY HANDICAPPED STUDENTS; MENTAL-HEALTH-SERVICES; CHILDREN; SKILLS;
ADOLESCENTS; PEOPLE; INTERVENTIONS; PREVALENCE; SYMPTOMS; FEEDBACK
AB For children diagnosed with an autism spectrum disorder and/or intellectual disability, the co-occurrence of serious behavioral disturbance can pose significant health and safety risks, impede normal learning and development, and put great stress on family systems. The complexity and seriousness of the clinical concerns often tax the existing service and funding systems. Although residential treatment has been criticized as an outdated and ineffective mode of treatment, newer models of residential treatment that combine specialized comprehensive services, evidence-based interventions, intensive family support and training, and treatment overlap with community providers can offer an effective and efficient treatment option.
C1 [McNellis, Carol Anne] Devereux Penn Childrens ID D Serv, W Chester, PA 19380 USA.
[Harris, Todd] Devereux Penn, Downingtown, PA 19350 USA.
RP McNellis, CA (reprint author), Devereux Penn Childrens ID D Serv, 390 East Boot Rd, W Chester, PA 19380 USA.
EM cmcnelli@devereux.org
CR Abt Associates Inc, 2008, CHAR RES TREATM CHIL
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NR 58
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 JAN
PY 2014
VL 23
IS 1
BP 111
EP +
DI 10.1016/j.chc.2013.08.005
PG 15
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400010
PM 24231171
ER
PT J
AU Siegel, M
Gabriels, RL
AF Siegel, Matthew
Gabriels, Robin L.
TI Psychiatric Hospital Treatment of Children with Autism and Serious
Behavioral Disturbance
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Inpatient; Autism; Intellectual disability; Hospitalization; Psychiatric
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; INTELLECTUAL
DISABILITIES; MENTAL-RETARDATION; YOUNG-CHILDREN; INPATIENT CARE;
ADOLESCENTS; INTERVENTION; INDIVIDUALS; DIAGNOSES
AB Children with autism spectrum disorder are psychiatrically hospitalized much more frequently than children in the general population. Hospitalization occurs primarily because of externalizing behaviors and is associated with behavioral disturbance, impaired emotion regulation, and psychiatric comorbidity. Additionally, a lack of practitioner and/or administrator training and experience with this population poses risks for denial of care by third-party payers or treatment facilities, inadequate treatment, extended lengths of stay, and poor outcomes. Evidence and best practices for the inpatient psychiatric care of this population are presented. Specialized treatment programs universally rely on multidisciplinary approaches, including behaviorally informed interventions.
C1 [Siegel, Matthew] Tufts Univ, Sch Med, Spring Harbor Hosp, Maine Med Ctr,Res Inst,Dev Disorders Program, Westbrook, ME 04096 USA.
[Gabriels, Robin L.] Univ Colorado Denver, Childrens Hosp Colorado, Neuropsychiat Special Care Program, Aurora, CO 80045 USA.
RP Siegel, M (reprint author), Tufts Univ, Sch Med, Spring Harbor Hosp, Maine Med Ctr,Res Inst,Dev Disorders Program, 123 Andover Rd, Westbrook, ME 04096 USA.
EM siegem@springharbor.org
CR AMAN MG, 1985, AM J MENT DEF, V89, P485
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 56
TC 4
Z9 4
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 JAN
PY 2014
VL 23
IS 1
BP 125
EP +
DI 10.1016/j.chc.2013.07.004
PG 20
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400011
PM 24231172
ER
PT J
AU Smith, LE
Greenberg, JS
Mailick, MR
AF Smith, Leann E.
Greenberg, Jan S.
Mailick, Marsha R.
TI The Family Context of Autism Spectrum Disorders Influence on the
Behavioral Phenotype and Quality of Life
SO CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Family; Stress; Psychoeducation; Expressed
emotion
ID FRAGILE-X-SYNDROME; EXPRESSED EMOTION; INTELLECTUAL DISABILITIES; GROUP
PSYCHOEDUCATION; BIPOLAR DISORDER; YOUNG-CHILDREN; DOWN-SYNDROME;
ADOLESCENTS; ADULTS; MOTHERS
AB This article reports the findings from a longitudinal program of research examining the bidirectional influences of the family environment on the behavioral phenotype of autism, and describes a newly developed family psychoeducation program, titled Transitioning Together, designed to reduce family stress, address behavior problems, and improve the overall quality of life of adolescents with autism and their families. A case study is presented that illustrates how Transitioning Together helps reduce family stress and improve the overall quality of the family environment. The article concludes with a discussion of directions for future research on best practices in working with families of children, adolescents, and adults with autism.
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[Greenberg, Jan S.] Univ Wisconsin, Waisman Ctr, Sch Social Work, Madison, WI 53705 USA.
RP Mailick, MR (reprint author), Univ Wisconsin, Waisman Ctr, 1500 Highland Ave, Madison, WI 53705 USA.
EM Mailick@Waisman.Wisc.Edu
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NR 57
TC 2
Z9 2
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 JAN
PY 2014
VL 23
IS 1
BP 143
EP +
DI 10.1016/j.chc.2013.08.006
PG 14
WC Psychiatry
SC Psychiatry
GA 278VG
UT WOS:000328917400012
PM 24231173
ER
PT J
AU Zhao, ZQ
Jia, SW
Hu, S
Sun, W
AF Zhao Zheng-qin
Jia Shao-wei
Hu Shu
Sun Wen
TI Evaluating the effectiveness of electro-acupuncture as a treatment for
childhood autism using single photon emission computed tomography
SO CHINESE JOURNAL OF INTEGRATIVE MEDICINE
LA English
DT Article
DE electro-acupuncture; single photon emission computed tomography;
childhood autism
ID ACUPOINT STIMULATION; SPECTRUM DISORDERS; BRAIN ACTIVITY; RAT-BRAIN;
ACUPUNCTURE; PREPROENKEPHALIN; PREVALENCE; FREQUENCY; PROTEINS; CHILDREN
AB To explore the effectiveness of electro-acupuncture (EA) in the treatment of childhood autism (CA) and evaluate its effectiveness using single photon emission computed tomography (SPECT).
A total of 55 CA patients (4.52 +/- 2.73 years) were enrolled in this study. All patients received EA treatments and were examined by SPECT before and after treatments.
Following treatment, the intracerebral multiple focal radioactivity distribution defect areas of CA patients were observed to be partially filled. Specifically, significant differences in the ratios of regional cerebral blood flow and global cerebral blood flow before (Fb) and after (Fe) EA treatment in different lesions were observed (in the left prefrontal cortex, t=5.01, P < 0.01; in the right prefrontal cortex, t=2.32, P < 0.05; in the left temporal lobe, t=4.54, P < 0.01; in the right temporal lobe, t=2.90, P < 0.05; in the left Broca's area, t=5.82, P < 0.01). After EA treatment, the patients exhibited symptomatic relief.
EA is useful to treat CA and SPECT can be used to evaluate the effectiveness of this treatment.
C1 [Zhao Zheng-qin; Jia Shao-wei; Hu Shu; Sun Wen] Peking Univ, Shenzhen Hosp, Dept Nucl Med, Shenzhen 518036, Guangdong, Peoples R China.
RP Jia, SW (reprint author), Peking Univ, Shenzhen Hosp, Dept Nucl Med, Shenzhen 518036, Guangdong, Peoples R China.
EM jiashaowei2003@163.com
FU Science and Technology Research Project of State Administration of
Traditional Chinese Medicine [00-01LP11]; Shenzhen Science and
Technology Project [201102015]
FX Supported by the Science and Technology Research Project of State
Administration of Traditional Chinese Medicine (No. 00-01LP11) and
Shenzhen Science and Technology Project (Health and Medicine Class, No.
201102015)
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NR 27
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1672-0415
EI 1993-0402
J9 CHIN J INTEGR MED
JI Chin. J. Integr. Med.
PD JAN
PY 2014
VL 20
IS 1
BP 19
EP 23
DI 10.1007/s11655-014-1680-2
PG 5
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA 281JG
UT WOS:000329096500003
PM 24374754
ER
PT J
AU De Melo, J
He, L
Tang, D
AF De Melo, J.
He, L.
Tang, D.
TI The Protein-Protein Interaction-Mediated Inactivation of PTEN
SO CURRENT MOLECULAR MEDICINE
LA English
DT Article
DE AKT; cancer; PI3 kinase; PTEN; PTEN binding proteins; PTEN negative
regulators; tumourigenesis
ID TUMOR-SUPPRESSOR PTEN; MULTIPLE SEQUENCE ALIGNMENT; REGULATORY FACTOR-1
NHERF1; AUTISM SPECTRUM DISORDERS; HEREDITARY BREAST-CANCER;
OOCYTE-SPECIFIC DELETION; PHOSPHATASE-ACTIVITY; PROSTATE-CANCER;
ALPHA-MANNOSIDASE; UBIQUITIN LIGASE
AB PTEN (Phosphatase and Tensin homologue deleted on chromosome 10, 10q23.3) is the dominant phosphatase responsible for the dephosphorylation of the 3-position phosphate from the inositol ring of phosphatidylinositol 3,4,5 triphosphate (PIP3), and thereby directly antagonizes the actions mediated by Phosphatidylinositol-3 Kinase (PI3K). PI3K functions in numerous pathways and cellular processes, including tumourigenesis. Therefore, mechanisms regulating PTEN function, either positively or negatively are of great interest not only to oncogenesis but also to other aspects of human health. Since its discovery in 1997, PTEN has been one of the most-heavily studied tumour suppressors and has been the subject of numerous reviews. Most investigations and reviews center on PTEN's function and its regulation. While the regulation of PTEN function via genetic and/or epigenetic mechanisms has been extensively studied, the impact of protein-protein interaction on PTEN function remains less clear. Recent research has revealed that PTEN can be specifically inhibited by its interaction with other proteins, which are collectively termed PTEN-negative regulators (PTEN-NRs). This review will summarize our current understanding on the protein network that influences PTEN function with a specific focus on PTEN-NRs.
C1 [De Melo, J.; He, L.; Tang, D.] McMaster Univ, Dept Med, Div Nephrol, Hamilton, ON, Canada.
[De Melo, J.; He, L.; Tang, D.] McMaster Univ, Dept Surg, Div Urol, Hamilton, ON L8S 4L8, Canada.
[De Melo, J.; He, L.; Tang, D.] St Josephs Hosp, Father Sean OSullivan Res Inst, Hamilton, ON L8N 4A6, Canada.
[De Melo, J.; He, L.; Tang, D.] St Josephs Hosp, Hamilton Ctr Kidney Res, Hamilton, ON L8N 4A6, Canada.
RP Tang, D (reprint author), St Josephs Hosp, T3310,50 Charlton Ave East, Hamilton, ON L8N 4A6, Canada.
EM damut@mcmaster.ca
FU CIHR grant [COP - 107971]; St. Joseph's HealthCare at Hamilton, Ontario,
Canada
FX This work was supported by a CIHR grant (COP - 107971) to D. Tang. We
also like to acknowledge the financial support from St. Joseph's
HealthCare at Hamilton, Ontario, Canada to the Hamilton Centre for
Kidney Research (HCKR).
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NR 124
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1566-5240
EI 1875-5666
J9 CURR MOL MED
JI Curr. Mol. Med.
PD JAN
PY 2014
VL 14
IS 1
BP 22
EP 33
PG 12
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA 282QQ
UT WOS:000329187800003
PM 24236460
ER
PT J
AU Cupples, L
Ching, TYC
Crowe, K
Seeto, M
Leigh, G
Street, L
Day, J
Marnane, V
Thomson, J
AF Cupples, Linda
Ching, Teresa Y. C.
Crowe, Kathryn
Seeto, Mark
Leigh, Greg
Street, Laura
Day, Julia
Marnane, Vivienne
Thomson, Jessica
TI Outcomes of 3-Year-Old Children With Hearing Loss and Different Types of
Additional Disabilities
SO JOURNAL OF DEAF STUDIES AND DEAF EDUCATION
LA English
DT Article
ID MULTIPLY HANDICAPPED-CHILDREN; COCHLEAR IMPLANTS; LANGUAGE-DEVELOPMENT;
SPEECH-PERCEPTION; AUDITORY SKILLS; DEAF-CHILDREN; PERFORMANCE; SCALE;
NEEDS
AB This research investigated the speech, language, and functional auditory outcomes of 119 3-year-old children with hearing loss and additional disabilities. Outcomes were evaluated using direct assessment and caregiver report. Multiple regressions revealed that type of additional disability and level of maternal education were significant predictors of language outcomes. Poorer outcomes were achieved in a combined group of children with autism, cerebral palsy, and/or developmental delay (DD) (Group A), compared with children with vision or speech output impairments, syndromes not entailing DD, or medical disorders (Group B). Better outcomes were associated with higher levels of maternal education. The association between better language outcomes and earlier cochlear implant switch-on approached significance. Further regression analyses were conducted separately for children with different types of additional disabilities. Level of maternal education was the only significant predictor of outcomes for Group A children, whereas degree of hearing loss was the strongest predictor for children in Group B. The findings highlight the variable impact that different types of additional disabilities can have on language development in children with hearing loss.
C1 [Cupples, Linda] Macquarie Univ, Sydney, NSW 2109, Australia.
[Leigh, Greg] Univ Newcastle, Royal Inst Deaf & Blind Children, Callaghan, NSW 2308, Australia.
RP Cupples, L (reprint author), Macquarie Univ, Ctr Cognit & Its Disorders, Australian Hearing Hub, 16 Univ Ave, Sydney, NSW 2109, Australia.
EM linda.cupples@mq.edu.au
CR [Anonymous], 2006, INF PAP INTR SOC IND
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NR 36
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1081-4159
EI 1465-7325
J9 J DEAF STUD DEAF EDU
JI J. Deaf Stud. Deaf Educ.
PD JAN
PY 2014
VL 19
IS 1
BP 20
EP 39
DI 10.1093/deafed/ent039
PG 20
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 280QL
UT WOS:000329045800003
PM 24150488
ER
PT J
AU Wiley, S
Gustafson, S
Rozniak, J
AF Wiley, Susan
Gustafson, Samantha
Rozniak, Justin
TI Needs of Parents of Children Who Are Deaf/Hard of Hearing With Autism
Spectrum Disorder
SO JOURNAL OF DEAF STUDIES AND DEAF EDUCATION
LA English
DT Article
ID DEAFNESS; REFLECTIONS; EXPERIENCES
AB Little is known about children who are deaf or hard of hearing (D/HH) with a coexisting autism spectrum disorder (ASD). The objective of our study was to understand the needs of children who are D/HH with coexisting ASD. We posed questions for group discussion about diagnostic process, impact of dual diagnosis on communication, and helpful resources. Four parents of three children participated. Challenges in the diagnostic process included the challenges in the appropriateness of the evaluation tools and the limited expertise of the professionals performing the evaluations. Broad-based special educational settings were perceived as helpful. Families described a range of broad-based communication strategies (spoken, sign, and written language, augmentative communication approaches). Families prioritized a focus on behavior and day-to-day functioning over academic performance. Families recognized the lack of professionals who understand ASD and deafness but have found the internet and technology as a mechanism to connect to information and families with similar needs.
C1 [Wiley, Susan; Rozniak, Justin] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[Gustafson, Samantha] Vanderbilt Univ, Nashville, TN 37212 USA.
RP Wiley, S (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3333 Burnet Ave ML 4002, Cincinnati, OH 45229 USA.
EM susan.wiley@cchmc.org
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Zimmerman I. L., 2011, PRESCHOOL LANGUAGE S
NR 25
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1081-4159
EI 1465-7325
J9 J DEAF STUD DEAF EDU
JI J. Deaf Stud. Deaf Educ.
PD JAN
PY 2014
VL 19
IS 1
BP 40
EP +
DI 10.1093/deafed/ent044
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA 280QL
UT WOS:000329045800001
PM 24186644
ER
PT J
AU Kuzniewicz, MW
Wi, S
Qian, YG
Walsh, EM
Armstrong, MA
Croen, LA
AF Kuzniewicz, Michael W.
Wi, Soora
Qian, Yinge
Walsh, Eileen M.
Armstrong, Mary Anne
Croen, Lisa A.
TI Prevalence and Neonatal Factors Associated with Autism Spectrum
Disorders in Preterm Infants
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID LOW-BIRTH-WEIGHT; RISK-FACTORS; GESTATIONAL-AGE; NEURODEVELOPMENTAL
OUTCOMES; INTRAVENTRICULAR HEMORRHAGE; PSYCHIATRIC-DISORDERS; EXTREME
PREMATURITY; SCHOOL-AGE; CHILDREN; POPULATION
AB Objectives To determine the prevalence of autism spectrum disorders (ASD) across gestational age, examine the risk of ASD by gestational age controlling for other risk factors, and identify potential risk factors in the neonatal intensive care unit.
Study design A retrospective cohort of infants born at >= 24 weeks between January 1, 2000, and December 31, 2007 at 11 Kaiser Permanente Northern California hospitals (n = 195 021). ASD cases were defined by a diagnosis made at a Kaiser Permanente ASD evaluation center, by a clinical specialist, or by a pediatrician. Cox proportional hazards regression models were used to evaluate the association between gestational age and ASD as well as potential risk factors in the neonatal intensive care unit and ASD.
Results The prevalence of ASD in infants <37 weeks was 1.78% compared with 1.22% in infants born >= 37 weeks (P < .001). Compared with term infants, infants born at 24-26 weeks had an adjusted hazard ratio (HR) for a diagnosis of ASD of 2.7 (95% CI 1.5-5.0). Infants born at 27-33 weeks (adjusted HR 1.4, 95% CI 1.1-1.8) and 34-36 weeks (adjusted HR 1.3,95% CI 1.1-1.4) were also at increased risk. High frequency ventilation and intracranial hemorrhage were associated with ASD in infants < 34 weeks.
Conclusions ASD was similar to 3 times more prevalent in infants <27 weeks compared with term infants. Each week of shorter gestation was associated with an increased risk of ASD. High frequency ventilation and intracranial hemorrhage were associated with ASD among infants <34 weeks.
C1 [Kuzniewicz, Michael W.; Wi, Soora; Qian, Yinge; Walsh, Eileen M.; Armstrong, Mary Anne; Croen, Lisa A.] Kaiser Permanente No Calif, Div Res, Oakland, CA USA.
[Kuzniewicz, Michael W.] Univ Calif San Francisco, Dept Pediat, Div Neonatol, San Francisco, CA USA.
RP Kuzniewicz, MW (reprint author), Kaiser Permanente No Calif, Div Res, Oakland, CA USA.
FU Kaiser Permanente Northern California Community Benefit Program
FX Supported by a grant from the Kaiser Permanente Northern California
Community Benefit Program. The authors declare no conflicts of interest.
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Network VO, 2012, VERM OXF NETW DAT 2
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NR 45
TC 9
Z9 9
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 20
EP 25
DI 10.1016/j.jpeds.2013.09.021
PG 6
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700006
PM 24161222
ER
PT J
AU Wong, HS
Huertas-Ceballos, A
Cowan, FM
Modi, N
AF Wong, Hilary S.
Huertas-Ceballos, Angela
Cowan, Frances M.
Modi, Neena
CA Med Neonates Investigator Grp
TI Evaluation of Early Childhood Social-Communication Difficulties in
Children Born Preterm Using the Quantitative Checklist for Autism in
Toddlers
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID NEONATAL RISK-FACTORS; SENSORY MODULATION; SPECTRUM DISORDERS; INFANTS;
AGE; PARTICIPATION; METAANALYSIS; PREVALENCE
AB Objectives To characterize early childhood social-communication skills and autistic traits in children born very preterm using the Quantitative Checklist for Autism in Toddlers (Q-CHAT) and explore neonatal and sociodemographic factors associated with Q-CHAT scores.
Study design Parents of children born before 30 weeks gestation and enrolled in a study evaluating routinely collected neurodevelopmental data between the post-menstrual ages of 20 and 28 months were invited to complete the Q-CHAT questionnaire. Children with severe neurosensory disabilities and cerebral palsy were excluded. Participants received neurodevelopmental assessments using the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III). Q-CHAT scores of this preterm cohort were compared with published general population scores. The association between Bayley-III cognitive and language scores and neonatal and sociodemographic factors with Q-CHAT scores were examined.
Results Q-CHAT questionnaires were completed from 141 participants. At a mean post-menstrual age of 24 months, the Q-CHAT scores of the preterm cohort (mean 33.7, SD 8.3) were significantly higher than published general population scores (mean 26.7; SD 7.8), indicating greater social-communication difficulty and autistic behavior. Preterm children received higher scores, particularly in the categories of restricted, repetitive, stereotyped behavior, communication, and sensory abnormalities. Lower Bayley-III language scores and non-white ethnicity were associated with higher Q-CHAT scores.
Conclusions Preterm children display greater social-communication difficulty and autistic behavior than the general population in early childhood as assessed by the Q-CHAT. The implications for longer-term outcome will be important to assess.
C1 [Wong, Hilary S.; Cowan, Frances M.; Modi, Neena] Univ London Imperial Coll Sci Technol & Med, Chelsea & Westminster Hosp, Dept Med, Sect Neonatal Med, London, England.
[Huertas-Ceballos, Angela] Univ Coll London Hosp NHS Fdn Trust, Neonatal Serv, London, England.
RP Wong, HS (reprint author), Univ London Imperial Coll Sci Technol & Med, Chelsea & Westminster Hosp, Dept Med, Sect Neonatal Med, London, England.
FU National Institute for Health Research (NIHR) [RP-PG-0707-10010];
Imperial College London
FX Funded by the National Institute for Health Research (NIHR) (Program
grant for Applied Research RP-PG-0707-10010), and sponsored by Imperial
College London. The views expressed are those of the authors and not
necessarily those of the National Health Service, the NIHR, or the
Department of Health. The authors declare no conflicts of interest.
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NR 27
TC 1
Z9 2
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD JAN
PY 2014
VL 164
IS 1
BP 26
EP +
DI 10.1016/j.jpeds.2013.07.013
PG 9
WC Pediatrics
SC Pediatrics
GA 276FU
UT WOS:000328734700007
PM 23972644
ER
PT J
AU Schriber, RA
Robins, RW
Solomon, M
AF Schriber, Roberta A.
Robins, Richard W.
Solomon, Marjorie
TI Personality and Self-Insight in Individuals With Autism Spectrum
Disorder
SO JOURNAL OF PERSONALITY AND SOCIAL PSYCHOLOGY
LA English
DT Article
DE autism; psychopathology; personality traits; personality judgment;
self-knowledge
ID PERVASIVE DEVELOPMENTAL DISORDERS; CROSS-CULTURAL DIFFERENCES;
HIGH-FUNCTIONING CHILDREN; STATES-OF-AMERICA; ASPERGER-SYNDROME;
5-FACTOR MODEL; COGNITIVE CONTROL; CONDUCT DISORDER; JOINT ATTENTION;
SOCIAL-SKILLS
AB Autism spectrum disorder (ASD) involves widespread difficulties in social interaction, communication, and behavioral flexibility. Consequently, individuals with ASD are believed to exhibit a number of unique personality tendencies, including a lack of insight into those tendencies. However, surprisingly little research has examined these issues. Study 1 compared self-reports of Big Five personality traits in adults with ASD (n = 37) to those of typically developing (TD) adults (n = 42). Study 2 examined whether any observed personality differences replicated in children/adolescents with ASD (n = 50) and TD controls (n = 50) according to self-and parent reports of personality. Study 2 also assessed level of self-insight in individuals with ASD relative to TD individuals by examining the degree to which self-reports converged with parent reports in terms of self-other agreement and self-enhancement (vs. self-diminishment) biases. Individuals with ASD were more Neurotic and less Extraverted, Agreeable, Conscientious, and Open to Experience. These personality differences replicated for (a) children, adolescents, and adults; (b) self-and parent reports; and (c) males and females. However, personality traits were far from perfect predictors of ASD vs. TD group membership, did not predict within-group variability in ASD symptom severity, and had differential links to maladjustment in the ASD and TD groups, suggesting that ASD represents more than just an extreme standing on trait dimensions. Finally, individuals with ASD had a tendency to self-enhance and TD individuals, to self-diminish, but both groups showed comparable self-other agreement. Thus, individuals with ASD exhibit distinct personalities relative to TD individuals but may have a similar level of insight into them.
C1 [Schriber, Roberta A.; Robins, Richard W.] Univ Calif Davis, Dept Psychol, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, Imaging Res Ctr, Davis, CA 95616 USA.
[Solomon, Marjorie] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
RP Schriber, RA (reprint author), Univ Calif Davis, Dept Psychol, 1 Shields Ave, Davis, CA 95616 USA.
EM raschriber@ucdavis.edu
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NR 131
TC 1
Z9 1
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0022-3514
EI 1939-1315
J9 J PERS SOC PSYCHOL
JI J. Pers. Soc. Psychol.
PD JAN
PY 2014
VL 106
IS 1
BP 112
EP 130
DI 10.1037/a0034950
PG 19
WC Psychology, Social
SC Psychology
GA 281SF
UT WOS:000329120600007
PM 24377361
ER
PT J
AU Bashir, S
Halepoto, DM
Al-Ayadhi, L
AF Bashir, Shahid
Halepoto, Dost Muhammad
Al-Ayadhi, Laila
TI Serum Level of Desert Hedgehog Protein in Autism Spectrum Disorder:
Preliminary Results
SO MEDICAL PRINCIPLES AND PRACTICE
LA English
DT Article
DE Hedgehog protein; Desert hedgehog; Autism spectrum disorder
ID SONIC HEDGEHOG; NEUROTROPHIC FACTOR; DISEASE; GENE
AB Objective: To investigate the role of desert hedgehog (Dhh) in a neurodevelopmental disorder known as autism. Subjects and Methods: This study was conducted at the Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia from October 2011 to May 2012. The serum levels of the Dhh protein in 57 patients recently diagnosed with autism and 37 age-matched healthy children were measured using ELISA. The Childhood Autism Rating Scale (CARS) was used for the assessment of autistic severity. Results: The mean serum level of Dhh in patients with autism (1.38 +/- 0.50 ng/ml) was significantly lower (p = 0.0003) than that of normal controls (1.73 +/- 0.37 ng/ml). There was no significant relationship between the serum level of Dhh and the CARS score (p = 0.28), age (p = 0.51) or gender (p = 0.76). Conclusions: The Dhh serum level of patients with autism was lower than that of controls, probably indicating that the serum level of Dhh might be implicated in the physiology of autism. However, this finding should be treated with caution until further investigations are performed with larger populations. (C) 2013 S. Karger AG, Basel
C1 [Bashir, Shahid] Harvard Univ, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Div Cognit Neurol,Dept Neurol,Med Sch, Boston, MA 02215 USA.
[Bashir, Shahid; Halepoto, Dost Muhammad; Al-Ayadhi, Laila] King Saud Univ, KSU Autism Res & Treatment Ctr, Dept Physiol, Fac Med, Riyadh 11461, Saudi Arabia.
RP Bashir, S (reprint author), King Saud Univ, KSU Autism Res & Treatment Ctr, Dept Physiol, POB 2925, Riyadh 11461, Saudi Arabia.
EM sbashir10@gmail.com
RI Bashir, Shahid/E-7212-2014
FU King Abdulaziz City for Science and Technology; National Plane of
Science and Technology Health Research program; Deanship of Scientific
Research from King Saud University, Saudi Arabia [RGP-VPP-216]
FX Work on this study was supported by grants from the King Abdulaziz City
for Science and Technology, the National Plane of Science and Technology
Health Research program, and the Deanship of Scientific Research grant
(RGP-VPP-216) from King Saud University, Saudi Arabia.
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NR 13
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1011-7571
EI 1423-0151
J9 MED PRIN PRACT
JI Med. Princ. Pract.
PY 2014
VL 23
IS 1
BP 14
EP 17
DI 10.1159/000354295
PG 4
WC Medicine, General & Internal
SC General & Internal Medicine
GA 280VB
UT WOS:000329057800003
PM 24009062
ER
PT J
AU Mills, GJ
AF Mills, Gregory J.
TI Dialogue in joint activity: Complementarity, convergence and
conventionalization
SO NEW IDEAS IN PSYCHOLOGY
LA English
DT Article
DE Dialogue; Grounding; Alignment; (Mis)communication; Coordination;
Sequentiality
ID COMMUNICATION-SYSTEMS; CONVERSATION; COORDINATION; INTERSUBJECTIVITY;
PROGRESSIVITY; EMERGENCE; SPEAKING; AUTISM; DAMAGE; MINDS
AB Dialogue is tightly interwoven within everyday joint activities that require moment-by-moment coordination of utterances and actions. A common account of coordination is that it is established via progressive convergence (alignment, entrainment, similarity) of interlocutors' representations and behaviour. In order to examine how coordination is established and sustained, this paper distinguishes between (1) Semantic coordination of referring expressions (2) Procedural coordination of the timing and sequencing of contributions. Drawing on data from a series of maze experiments, this paper shows how both kinds of coordination result in the rapid development of highly elliptical, systematized and normative conventions. Focussing on how these conventions are established, this paper shows how interlocutors exploit partial repetition as an interactive resource, resulting in interlocutors' turns becoming progressively divergent and complementary. Further, this paper develops the claim that since repetition is best conceived as a special case of complementarity, it cannot be the general explanation of coordination. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Univ Edinburgh, Edinburgh EH8 9YL, Midlothian, Scotland.
RP Mills, GJ (reprint author), Univ Edinburgh, Edinburgh EH8 9YL, Midlothian, Scotland.
EM gmills@staffmail.ed.ac.uk
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NR 75
TC 7
Z9 7
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0732-118X
EI 1873-3522
J9 NEW IDEAS PSYCHOL
JI New Ideas Psychol.
PD JAN
PY 2014
VL 32
BP 158
EP 173
DI 10.1016/j.newideapsych.2013.03.006
PG 16
WC Psychology, Multidisciplinary; Psychology, Experimental
SC Psychology
GA 280FJ
UT WOS:000329013800016
ER
PT J
AU Cheslack-Postava, K
Jokiranta, E
Suominen, A
Lehti, V
Sourander, A
Brown, AS
AF Cheslack-Postava, Keely
Jokiranta, Elina
Suominen, Auli
Lehti, Venla
Sourander, Andre
Brown, Alan S.
TI Variation by Diagnostic Subtype in Risk for Autism Spectrum Disorders
Associated with Maternal Parity among Finnish Births
SO PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
LA English
DT Article
DE parity; autism spectrum disorders; childhood autism; Asperger syndrome;
pervasive developmental disorders; birth order
ID NEONATAL FACTORS; OBSTETRIC COMPLICATIONS; GENERAL-POPULATION; PERINATAL
FACTORS; INFANTILE-AUTISM; 1ST TRIMESTER; PREGNANCY; AGE; INFECTION;
CHILDREN
AB BackgroundAssociations between maternal parity and outcomes in offspring may provide evidence for involvement of prenatal exposures. The objective of this study was to determine whether risk for autism spectrum disorders (ASD) is associated with maternal parity.
MethodsDiagnoses of childhood autism, Asperger syndrome, and pervasive developmental disorder, not otherwise specified (PDD-NOS) were examined separately and as a group. The study was conducted in the Finnish Prenatal Study of Autism, which is based in a national birth cohort. Children born in Finland in 1987-2005 and diagnosed with ASD by 2007 were identified through the Finnish Hospital Discharge Register. Four matched controls were selected for each case using the Finnish Medical Birth Register. The association between parity and each ASD was determined using conditional logistic regression and adjusted for number of children in the sibship and other potential confounders.
ResultsASDs combined showed a pattern of decreasing risk with increasing parity (odds ratio OR for fourth or greater vs. first-born children, 0.43 [95% confidence interval (CI): 0.35, 0.51]). For childhood autism, an adjusted OR of 1.51 [95% CI 1.27, 1.81] was observed for second vs. first-born children. Associations for Asperger syndrome and PDD-NOS were consistent with those for all ASDs.
ConclusionsDifferences in patterns of association between maternal parity and ASD subtypes may indicate varying contributions of specific environmental factors to risk; however, differences in diagnosis or in treatment seeking for childhood behavioural problems cannot be ruled out, particularly for higher functioning cases.
C1 [Cheslack-Postava, Keely; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Sourander, Andre] Turku Univ Hosp, FIN-20520 Turku, Finland.
[Jokiranta, Elina; Suominen, Auli; Lehti, Venla; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku, Finland.
[Sourander, Andre] Univ Tromso, Fac Hlth Sci, RKBU, Tromso, Norway.
RP Cheslack-Postava, K (reprint author), Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, 722 West 168th St Rm 720C, New York, NY 10032 USA.
EM kc2497@columbia.edu
FU National Institutes of Health [NIEHS R01ES019004, NIMH K02 MH065422,
NIMH T32-13043]; Jane & Aatos Erkko Foundation; Finnish Epilepsy Society
FX This study was funded by the National Institutes of Health [NIEHS
R01ES019004 (A. S. B.), NIMH K02 MH065422 (A. S. B.), and NIMH T32-13043
(K. C. P.)], the Jane & Aatos Erkko Foundation (E.J.), and the Finnish
Epilepsy Society (E.J.). The authors have no conflicts of interest to
declare.
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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 0269-5022
EI 1365-3016
J9 PAEDIATR PERINAT EP
JI Paediatr. Perinat. Epidemiol.
PD JAN
PY 2014
VL 28
IS 1
BP 58
EP 66
DI 10.1111/ppe.12094
PG 9
WC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
SC Public, Environmental & Occupational Health; Obstetrics & Gynecology;
Pediatrics
GA 264RX
UT WOS:000327899300008
PM 24313668
ER
PT J
AU Manseau, M
Case, BG
AF Manseau, Marc
Case, Brady G.
TI Racial-Ethnic Disparities in Outpatient Mental Health Visits to US
Physicians, 1993-2008
SO PSYCHIATRIC SERVICES
LA English
DT Article
ID SUBSTANCE USE DISORDERS; COMORBIDITY SURVEY REPLICATION; NATIONAL
EPIDEMIOLOGIC SURVEY; ENGLISH-LANGUAGE PROFICIENCY; IN-SERVICE
UTILIZATION; PRIMARY-CARE PATIENTS; UNITED-STATES; AFRICAN-AMERICANS;
RACIAL/ETHNIC DISPARITIES; DEPRESSION TREATMENT
AB Objective: The purpose of this study was to examine racial-ethnic differences in use of mental health treatment for a comprehensive range of specific disorders over time. Methods: Data from the National Ambulatory Medical Care Survey and the National Hospital Ambulatory Medical Care Survey were used to examine adult outpatient mental health visits to U.S. physicians from 1993 to 2008 (N=754,497). Annual visit prevalence for three racial-ethnic groups was estimated as the number of visits divided by the group's U.S. population size. Visit prevalence ratios (VPRs) were calculated as the minority group's prevalence divided by the non-Hispanic white prevalence. Analyses were stratified by diagnosis, physician type, patient characteristics, and year. Results: VPRs for any disorder were .60 (95% confidence interval [CI] =.52-.68) for non-Hispanic blacks and .58 (CI=.50-.67) for Hispanics. Non-Hispanic blacks were treated markedly less frequently than whites for obsessive-compulsive, generalized anxiety, attention-deficit hyperactivity, personality, panic, and nicotine use disorders but more frequently for psychotic disorders. Hispanics were treated far less frequently than whites for bipolar I, impulse control, autism spectrum, personality, obsessive-compulsive, and nicotine use disorders but more frequently for drug use disorders. Racial-ethnic differences in visits to psychiatrists were generally greater than for visits to nonpsychiatrists. Differences declined with increasing patient age and appear to have widened over time. Conclusions: Racial-ethnic differences in receipt of outpatient mental health treatment from U.S. physicians varied substantially by disorder, provider type, and patient age. Most differences were large and did not show improvement over time.
C1 [Manseau, Marc] Columbia Univ, Dept Psychiat, New York, NY 10027 USA.
[Case, Brady G.] Emma Pendleton Bradley Hosp, Hlth Serv Res Program, East Providence, RI USA.
[Case, Brady G.] Brown Univ, Warren Alpert Med Sch, Dept Psychiat & Human Behav, Providence, RI 02912 USA.
RP Manseau, M (reprint author), Columbia Univ, Dept Psychiat, New York, NY 10027 USA.
EM mwm2110@columbia.edu
FU American Academy of Child and Adolescent Psychiatry Eli filly Pilot
Research Award; American Psychiatric Association-AstraZeneca Young Minds
in Psychiatry Award
FX Dr. Case has received research support from the American Academy of
Child and Adolescent Psychiatry Eli filly Pilot Research Award and the
American Psychiatric Association-AstraZeneca Young Minds in Psychiatry
Award and has provided clinical consultation to Blue Cross Blue Shield
of Rhode Island and United Behavioral Health. Dr. Manseau reports no
competing interests.
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NR 78
TC 2
Z9 2
PU AMER PSYCHIATRIC PUBLISHING, INC
PI ARLINGTON
PA 1000 WILSON BOULEVARD, STE 1825, ARLINGTON, VA 22209-3901 USA
SN 1075-2730
EI 1557-9700
J9 PSYCHIAT SERV
JI Psychiatr. Serv.
PD JAN
PY 2014
VL 65
IS 1
BP 59
EP 67
DI 10.1176/appi.ps.201200528
PG 9
WC Health Policy & Services; Public, Environmental & Occupational Health;
Psychiatry
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Psychiatry
GA 280CB
UT WOS:000329005200010
PM 24129773
ER
PT J
AU Hoeffding, LKE
Hansen, T
Ingason, A
Doung, L
Thygesen, JH
Moller, RS
Tommerup, N
Kirov, G
Rujescu, D
Larsen, LA
Werge, T
AF Hoeffding, Louise Kristine Enggaard
Hansen, Thomas
Ingason, Andres
Doung, Linh
Thygesen, Johan H.
Moller, Rikke S.
Tommerup, Niels
Kirov, George
Rujescu, Dan
Larsen, Lars A.
Werge, Thomas
TI Sequence Analysis of 17 NRXN1 Deletions
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE neurexin 1; deletion; breakpoints
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDER; GENOMIC ARCHITECTURE;
COMPLEX REARRANGEMENTS; INHERITED DISEASE; INVERTED REPEATS;
SCHIZOPHRENIA; DUPLICATIONS; MECHANISMS; REPAIR
AB BackgroundGenome instability plays fundamental roles in human evolution and phenotypic variation within our population. This instability leads to genomic rearrangements that are involved in a wide variety of human disorders, including congenital and neurodevelopmental disorders, and cancers. Insight into the molecular mechanisms governing such genomic rearrangements may increase our understanding of disease pathology and evolutionary processes. Here we analyse 17 carriers of non-recurrent deletions in the NRXN1 gene, which have been associated with neurodevelopmental disorders, e.g. schizophrenia, autism and epilepsies.
Methods17 non-recurrent NRXN1 deletions identified by GWA were sequenced to map the breakpoints of each. Meme ... etc. was used to identify shared patterns between the deletions and compare these were previously studies on non-recurrent deletions.
ResultsWe discovered two novel sequence motifs shared between all 17 NRXN1 deletions and a significantly higher AT nucleotide content at the breakpoints, compared to the overall nucleotide content on chromosome 2. We found different alteration of sequence at the breakpoint; small insertions and duplications giving rise to short microhomology sequences.
ConclusionsNo single mechanism seems to be implicated in the deletion events, but the results suggest that NHEJ, FoSTeS or MMBIR is implicated. The two novel sequence motifs together with a high AT content in all in NRXN1 deletions may lead to increased instability leading to a increase susceptibility to a single stranded structures. This favours potentially repaired by NHEJ mechanism of double strand breaks or may leading to replication errors. (c) 2013 Wiley Periodicals, Inc.
C1 [Hoeffding, Louise Kristine Enggaard; Hansen, Thomas; Ingason, Andres; Doung, Linh; Thygesen, Johan H.; Werge, Thomas] Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Res Inst Biol Psychiat, DK-4000 Roskilde, Denmark.
[Moller, Rikke S.] Danish Epilepsy Ctr, Dianalund, Denmark.
[Tommerup, Niels; Larsen, Lars A.] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Copenhagen, Denmark.
[Kirov, George] Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF10 3AX, S Glam, Wales.
[Rujescu, Dan] Univ Munich, Dept Psychiat, Div Mol & Clin Neurobiol, D-80539 Munich, Germany.
[Rujescu, Dan] Univ Halle, Dept Psychiat, Halle, Germany.
[Werge, Thomas] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark.
RP Hoeffding, LKE (reprint author), Copenhagen Univ Hosp, Mental Hlth Ctr Sct Hans, Res Inst Biol Psychiat, Boserupvej 2, DK-4000 Roskilde, Denmark.
EM louise.k.enggaard.hoeffding@regionh.dk
RI Hansen, Thomas/O-5965-2014
OI Hansen, Thomas/0000-0001-6703-7762
FU Lundbeck Foundation [R34-A3243]; Danish National Advanced Technology
Foundation [001-2009-2]; Danish Council for Independent Research in
Medical Sciences; Danish Psychiatric Research Foundation; European Union
[LSHM-CT-2006-037761]
FX Grant sponsor: Lundbeck Foundation; Grant number: R34-A3243; Grant
sponsor: Danish National Advanced Technology Foundation; Grant number:
001-2009-2; Grant sponsor: Danish Council for Independent Research in
Medical Sciences; Grant sponsor: Danish Psychiatric Research Foundation;
Grant sponsor: European Union; Grant number: LSHM-CT-2006-037761.
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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 1552-4841
EI 1552-485X
J9 AM J MED GENET B
JI Am. J. Med. Genet. B
PD JAN
PY 2014
VL 165
IS 1
BP 52
EP 61
DI 10.1002/ajmg.b.32204
PG 10
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA 272IQ
UT WOS:000328454100006
ER
PT J
AU Levy, F
AF Levy, Florence
TI The autism spectrum disorder 'epidemic': Need for biopsychosocial
formulation
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Article
C1 Prince Wales Hosp, Sch Psychiat, Sydney, NSW 2031, Australia.
RP Levy, F (reprint author), Prince Wales Hosp, Sch Psychiat, Sydney, NSW 2031, Australia.
EM f.levy@unsw.edu.au
CR Basu S, 2013, AUST NZ J PSYCHIAT, V47, P1116, DOI 10.1177/0004867413509694
Kilgore C, 2013, CLIN PSYCHIAT NEWS, V9, P14
NR 2
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0004-8674
EI 1440-1614
J9 AUST NZ J PSYCHIAT
JI Aust. N. Z. J. Psych.
PD JAN
PY 2014
VL 48
IS 1
SI SI
BP 91
EP 92
DI 10.1177/0004867413506756
PG 2
WC Psychiatry
SC Psychiatry
GA 276DD
UT WOS:000328727400016
PM 24293051
ER
PT J
AU Starling, J
AF Starling, Jean
TI Are we over-diagnosing autism? The case against
SO AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
LA English
DT Article
ID DISORDERS; CHILDREN
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[Starling, Jean] Univ Sydney, Discipline Psychiat, Sydney Med Sch, Sydney, NSW 2006, Australia.
RP Starling, J (reprint author), Concord Ctr Mental Hlth, Walker Unit, Hosp Rd, Concord West, NSW 2138, Australia.
EM jean.starling@sydney.edu.au
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NR 10
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0004-8674
EI 1440-1614
J9 AUST NZ J PSYCHIAT
JI Aust. N. Z. J. Psych.
PD JAN
PY 2014
VL 48
IS 1
SI SI
BP 92
EP 93
DI 10.1177/0004867413513343
PG 2
WC Psychiatry
SC Psychiatry
GA 276DD
UT WOS:000328727400017
PM 24293050
ER
PT J
AU Hobson, RP
AF Hobson, R. Peter
TI The coherence of autism
SO AUTISM
LA English
DT Article
DE Autism; blindness; coherence; fractionation; identification;
intersubjectivity; syndrome
ID CONGENITALLY BLIND-CHILDREN; REPETITIVE BEHAVIORS; LANGUAGE IMPAIRMENT;
VISUAL IMPAIRMENTS; SPECTRUM DISORDER; INFANTILE-AUTISM; SOCIAL
COGNITION; INTERESTS; MIND
AB There is a growing body of opinion that we should view autism as fractionable into different, largely independent sets of clinical features. The alternative view is that autism is a coherent syndrome in which principal features of the disorder stand in intimate developmental relationship with each other. Studies of congenitally blind children offer support for the latter position and suggest that a source of coherence in autism is restriction in certain forms of perceptually dependent social experience.
C1 [Hobson, R. Peter] UCL, London WC1N 1EH, England.
RP Hobson, RP (reprint author), UCL, Inst Child Hlth, Tavistock Clin, London WC1N 1EH, England.
EM r.hobson@ucl.ac.uk
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NR 65
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 6
EP 16
DI 10.1177/1362361313497538
PG 11
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700002
PM 24151128
ER
PT J
AU Brunsdon, VEA
Happe, F
AF Brunsdon, Victoria E. A.
Happe, Francesca
TI Exploring the 'fractionation' of autism at the cognitive level
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; central coherence; cognitive theories;
executive function; fractionable triad; Theory of Mind
ID WEAK CENTRAL COHERENCE; SPECTRUM DISORDERS; EXECUTIVE FUNCTION;
REPETITIVE BEHAVIORS; COMMUNICATION DEFICITS; YOUNG-PEOPLE;
DEVELOPMENTAL DISORDERS; GENERAL-POPULATION; ASPERGER SYNDROME; CHILDREN
AB Autism spectrum disorders are defined by difficulties across a range of areas: social and communication difficulties and restricted and repetitive behaviours and interests. It has been suggested that this triad of symptoms cannot be explained by a single cause at the genetic, neural or cognitive level. This article reviews the evidence for a fractionable' autism triad at the cognitive level, highlighting questions for future research.
C1 [Brunsdon, Victoria E. A.; Happe, Francesca] Kings Coll London, London SE5 8AF, England.
RP Brunsdon, VEA (reprint author), Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, PO 80,Denmark Hill, London SE5 8AF, England.
EM victoria.brunsdon@kcl.ac.uk
RI Brunsdon, Victoria/F-6207-2011
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NR 94
TC 9
Z9 9
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 17
EP 30
DI 10.1177/1362361313499456
PG 14
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700003
PM 24126870
ER
PT J
AU Frazier, TW
Ratliff, KR
Gruber, C
Zhang, Y
Law, PA
Constantino, JN
AF Frazier, Thomas W.
Ratliff, Kristin R.
Gruber, Chris
Zhang, Yi
Law, Paul A.
Constantino, John N.
TI Confirmatory factor analytic structure and measurement invariance of
quantitative autistic traits measured by the Social Responsiveness
Scale-2
SO AUTISM
LA English
DT Article
DE Asperger syndrome; autism; factor structure; pervasive developmental
disorder
ID OF-FIT INDEXES; GENERAL-POPULATION; SPECTRUM DISORDERS; IMPAIRMENT;
TWIN; VALIDATION; COMPONENTS; CHILDREN; EXTREMES; BEHAVIOR
AB Understanding the factor structure of autistic symptomatology is critical to the discovery and interpretation of causal mechanisms in autism spectrum disorder. We applied confirmatory factor analysis and assessment of measurement invariance to a large (N = 9635) accumulated collection of reports on quantitative autistic traits using the Social Responsiveness Scale, representing a broad diversity of age, severity, and reporter type. A two-factor structure (corresponding to social communication impairment and restricted, repetitive behavior) as elaborated in the updated Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) criteria for autism spectrum disorder exhibited acceptable model fit in confirmatory factor analysis. Measurement invariance was appreciable across age, sex, and reporter (self vs other), but somewhat less apparent between clinical and nonclinical populations in this sample comprised of both familial and sporadic autism spectrum disorders. The statistical power afforded by this large sample allowed relative differentiation of three factors among items encompassing social communication impairment (emotion recognition, social avoidance, and interpersonal relatedness) and two factors among items encompassing restricted, repetitive behavior (insistence on sameness and repetitive mannerisms). Cross-trait correlations remained extremely high, that is, on the order of 0.66-0.92. These data clarify domains of statistically significant factoral separation that may relate to partiallybut not completelyoverlapping biological mechanisms, contributing to variation in human social competency. Given such robust intercorrelations among symptom domains, understanding their co-emergence remains a high priority in conceptualizing common neural mechanisms underlying autistic syndromes.
C1 [Frazier, Thomas W.] Cleveland Clin, Cleveland, OH USA.
[Ratliff, Kristin R.; Gruber, Chris] Western Psychol Serv, Eagan, MN USA.
[Zhang, Yi; Constantino, John N.] Washington Univ Sch Med St Louis, St Louis, MO 63110 USA.
[Law, Paul A.] Johns Hopkins Univ Sch Med, Baltimore, MD USA.
RP Constantino, JN (reprint author), Washington Univ Sch Med St Louis, 660 South Euclid Ave,Campus Box 8134, St Louis, MO 63110 USA.
EM Constantino@wustl.edu
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NR 55
TC 6
Z9 6
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 31
EP 44
DI 10.1177/1362361313500382
PG 14
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700004
PM 24019124
ER
PT J
AU Mandy, W
Charman, T
Puura, K
Skuse, D
AF Mandy, William
Charman, Tony
Puura, Kaija
Skuse, David
TI Investigating the cross-cultural validity of DSM-5 autism spectrum
disorder: Evidence from Finnish and UK samples
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; confirmatory factor analysis; cross-cultural;
Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition;
International Classification of Diseases-11th Edition
ID DIAGNOSTIC INTERVIEW 3DI; STATES-OF-AMERICA; QUOTIENT AQ; PSYCHOMETRIC
PROPERTIES; MEASUREMENT INVARIANCE; UNITED-KINGDOM; SOUTH-KOREA; FIT
INDEXES; CHILDREN; VALIDATION
AB The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.
C1 [Mandy, William; Skuse, David] UCL, London WC1E 6BT, England.
[Charman, Tony] Kings Coll London, London WC2R 2LS, England.
[Puura, Kaija] Tampere Univ Hosp, Tampere, Finland.
RP Mandy, W (reprint author), UCL, Res Dept Clin Hlth & Educ Psychol, Gower St, London WC1E 6BT, England.
EM w.mandy@ucl.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
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World Health Organization (WHO), 2013, INT CLASS DIS ICD 11
NR 41
TC 3
Z9 3
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 45
EP 54
DI 10.1177/1362361313508026
PG 10
WC Psychology, Developmental
SC Psychology
GA 277QZ
UT WOS:000328835700005
PM 24113342
ER
PT J
AU Weisberg, J
Milleville, SC
Kenworthy, L
Wallace, GL
Gotts, SJ
Beauchamp, MS
Martin, A
AF Weisberg, Jill
Milleville, Shawn C.
Kenworthy, Lauren
Wallace, Gregory L.
Gotts, Stephen J.
Beauchamp, Michael S.
Martin, Alex
TI Social Perception in Autism Spectrum Disorders: Impaired Category
Selectivity for Dynamic but not Static Images in Ventral Temporal Cortex
SO CEREBRAL CORTEX
LA English
DT Article
DE Asperger's syndrome; autism; fusiform gyrus; MRI/fMRI; social cognition
ID POSTERIOR PARIETAL CORTEX; EPISODIC MEMORY RETRIEVAL; VISUAL-SPATIAL
ATTENTION; LATERAL OCCIPITAL CORTEX; BOTTOM-UP ATTENTION; EVENT-RELATED
FMRI; RECOGNITION MEMORY; RETINOTOPIC ORGANIZATION; INTRAPARIETAL
SULCUS; WORKING-MEMORY
AB Studies of autism spectrum disorders (ASDs) reveal dysfunction in the neural systems mediating object processing (particularly faces) and social cognition, but few investigations have systematically assessed the specificity of the dysfunction. We compared cortical responses in typically developing adolescents and those with ASD to stimuli from distinct conceptual domains known to elicit category-related activity in separate neural systems. In Experiment 1, subjects made category decisions to photographs, videos, and point-light displays of people and tools. In Experiment 2, subjects interpreted displays of simple, geometric shapes in motion depicting social or mechanical interactions. In both experiments, we found a selective deficit in the ASD subjects for dynamic social stimuli (videos and point-light displays of people, moving geometric shapes), but not static images, in the functionally localized lateral region of the right fusiform gyrus, including the fusiform face area. In contrast, no group differences were found in response to either static images or dynamic stimuli in other brain regions associated with face and social processing (e. g. posterior superior temporal sulcus, amygdala), suggesting disordered connectivity between these regions and the fusiform gyrus in ASD. This possibility was confirmed by functional connectivity analysis.
C1 [Weisberg, Jill; Milleville, Shawn C.; Kenworthy, Lauren; Wallace, Gregory L.; Gotts, Stephen J.; Martin, Alex] NIMH, Lab Brain & Cognit, Bethesda, MD 20850 USA.
[Kenworthy, Lauren] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Rockville, MD 20850 USA.
[Beauchamp, Michael S.] Univ Texas Med Sch Houston, Dept Neurobiol & Anat, Houston, TX 77030 USA.
RP Weisberg, J (reprint author), San Diego State Univ Res Fdn, Lab Language & Cognit Neurosci, 6495 Alvarado Rd,Suite 200, San Diego, CA 92120 USA.
EM jweisberg@projects.sdsu.edu
FU National Institute of Mental Health [5R01-MH080309]; NSF [BCS 0920865]
FX This work was supported by a grant from the National Institute of Mental
Health (5R01-MH080309) and support for KSW from the NSF (BCS 0920865).
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NR 101
TC 5
Z9 5
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 JAN
PY 2014
VL 24
IS 1
BP 37
EP 66
DI 10.1093/cercor/bhs276
PG 30
WC Neurosciences
SC Neurosciences & Neurology
GA 271EE
UT WOS:000328373300003
PM 23019245
ER
PT J
AU Yang, JM
Zhang, J
Yu, YQ
Duan, SM
Li, XM
AF Yang, Jian-Ming
Zhang, Jing
Yu, Yan-Qin
Duan, Shumin
Li, Xiao-Ming
TI Postnatal Development of 2 Microcircuits Involving Fast-Spiking
Interneurons in the Mouse Prefrontal Cortex
SO CEREBRAL CORTEX
LA English
DT Article
DE electrical synapses; networks; paired recording; parvalbumin;
synaptogenesis
ID ELECTRICAL SYNAPSES; GABAERGIC INTERNEURONS; CORTICAL INTERNEURONS;
CEREBRAL-CORTEX; CONNEXIN EXPRESSION; GAMMA-OSCILLATIONS; INHIBITORY
NEURONS; IN-VIVO; NEOCORTEX; NETWORKS
AB Disturbed development of the parvalbumin-positive fast-spiking (FS) interneurons in the prefrontal cortex (PFC) is closely associated with many neuropsychiatric disorders such as schizophrenia and autism. FS interneurons form at least 2 microcircuits in the PFC: one with pyramidal neurons (FS-PN) through chemical synapses; the other with other FS interneurons (FS-FS) via chemical and electrical synapses. It is currently unknown when and how these circuits are established in the PFC during early development. Here, we used G42 mice, in which FS interneurons are specifically labeled with enhanced green fluorescent protein, to make dual whole-cell recordings from postnatal day 3 (P3) to P30 to study the development of FS interneuronal networks in the PFC. We found that FS interneurons were poorly developed in terms of the membrane and network properties during the first postnatal week, both of which exhibited an abrupt maturation during the second postnatal week. The development of FS interneuronal microcircuits lasted throughout early adulthood. Thus, our data suggest that FS interneurons might not be involved in generating cortical oscillatory activity and. oscillations during the first postnatal week. Our data also indicate an independent development of electrical and chemical synapses among FS interneuronal networks during the early period.
C1 [Yang, Jian-Ming; Zhang, Jing; Yu, Yan-Qin; Duan, Shumin; Li, Xiao-Ming] Zhejiang Univ, Sch Med, Dept Neurobiol,Zhejiang Prov Key Lab Neurobiol, Key Lab Med Neurobiol,Minist Hlth China, Hangzhou 310003, Zhejiang, Peoples R China.
RP Li, XM (reprint author), Zhejiang Univ, Sch Med, Dept Neurobiol,Zhejiang Prov Key Lab Neurobiol, Key Lab Med Neurobiol,Minist Hlth China, Hangzhou 310003, Zhejiang, Peoples R China.
EM lixm@zju.edu.cn
FU National Natural Science Foundation of China [91132714, 30970916,
31070926, 81221003]; Major Research Program from the State Ministry of
Science and Technology of China [2010CB912004]; Zhejiang Provincial
Natural Science Foundation of China [Z2090127]; Zhejiang Provincial
Qianjiang Talent Plan [2010R10057]; PCSIRT; Fundamental Research Funds
for the Central Universities [2011XZZX002]; Zhejiang Province Key
Technology Innovation Team [2010R50049]
FX This work was supported by grants from the National Natural Science
Foundation of China (91132714, 30970916, 31070926 and 81221003), the
Major Research Program from the State Ministry of Science and Technology
of China (2010CB912004), the Zhejiang Provincial Natural Science
Foundation of China (Z2090127), the Zhejiang Provincial Qianjiang Talent
Plan (2010R10057), PCSIRT, the Fundamental Research Funds for the
Central Universities (2011XZZX002) and the Zhejiang Province Key
Technology Innovation Team (2010R50049).
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NR 48
TC 5
Z9 5
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 JAN
PY 2014
VL 24
IS 1
BP 98
EP 109
DI 10.1093/cercor/bhs291
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 271EE
UT WOS:000328373300006
PM 23042741
ER
PT J
AU Tanhauserova, V
Kuricova, K
Pacal, L
Bartakova, V
Rehorova, J
Svojanovsky, J
Olsovsky, J
Belobradkova, J
Kankova, K
AF Tanhaeuserova, Veronika
Kuricova, Katarina
Pacal, Lukas
Bartakova, Vendula
Rehorova, Jitka
Svojanovsky, Jan
Olsovsky, Jindrich
Belobradkova, Jana
Kankova, Katerina
TI Genetic variability in enzymes of metabolic pathways conferring
protection against non-enzymatic glycation versus diabetes-related
morbidity and mortality
SO CLINICAL CHEMISTRY AND LABORATORY MEDICINE
LA English
DT Article
DE advanced glycation end-products; diabetic nephropathy; fructosamine
3-kinase; glyoxalase; pentose phosphate pathway; transketolase
ID GLYOXALASE-I; FRUCTOSAMINE 3-KINASE; NEPHROPATHY; TRANSKETOLASE;
POLYMORPHISMS; SUSCEPTIBILITY; COMPLICATIONS; RETINOPATHY; DISEASE;
AUTISM
AB Background: We hypothesized that genetic variability in genes encoding enzymes metabolizing glycolytic intermediates produced in excess under hyperglycemic conditions [i.e., transketolase (TKT), transaldolase, TKT-like protein 1, fructosamine 3-kinase (FN3K), glyoxalase 1 and glucose-6-phosphate dehydrogenase] could influence progression of diabetic nephropathy (DN) and diabetes-related morbidity and mortality.
Methods: A total of 19 single nucleotide polymorphisms (SNPs) in six candidate genes were studied in 314 type 2 diabetic subjects with variable stage of kidney disease (normo- and microalbuminuria, proteinuria, end-stage renal disease). SNP selection criteria were based on known functional effect and gene coverage. SNPs were detected using polymerase chain reaction based methods. Subjects were followed up for median of 38 months. Time-to-event analysis considered three end-points: 1) DN progression by at least one stage; 2) major cardiovascular event; and 3) all-cause mortality.
Results: We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN progression (p<0.01). Additionally, TKT rs3736156 alone and also in combination with the previous two SNPs exhibited significant effect on incidence of major cardiovascular events (p<0.01 and p=0.01, respectively).
Conclusions: Genetic variability in rate-limiting enzymes of pathways proposed to confer hypothetical protection against hyperglycemia might act as an important determinant of hyperglycemia toxicity in long-standing diabetes.
C1 [Tanhaeuserova, Veronika] Masaryk Univ, Dept Pathophysiol, Fac Med, Brno 62500, Czech Republic.
[Kuricova, Katarina; Pacal, Lukas; Bartakova, Vendula; Kankova, Katerina] Masaryk Univ, Fac Med, Dept Pathophysiol, Brno 62500, Czech Republic.
[Rehorova, Jitka; Belobradkova, Jana] Univ Hosp Brno, Dept Internal Med, Brno, Czech Republic.
[Svojanovsky, Jan; Olsovsky, Jindrich] St Annes Univ Hosp, Dept Internal Med 2, Brno, Czech Republic.
RP Tanhauserova, V (reprint author), Masaryk Univ, Dept Pathophysiol, Fac Med, Kamenice 5, Brno 62500, Czech Republic.
EM veronika.tan@mail.muni.cz
RI Pacal, Lukas/G-8060-2012
OI Pacal, Lukas/0000-0003-1118-7424
FU Ministry of Health of Czech Republic [NT13198]
FX Study was supported by the grant NT13198 from the Ministry of Health of
Czech Republic.
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Wu JC, 2011, J ENDOCRINOL INVEST, V34, pE343, DOI 10.3275/7856
NR 16
TC 4
Z9 4
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 1434-6621
EI 1437-4331
J9 CLIN CHEM LAB MED
JI Clin. Chem. Lab. Med.
PD JAN
PY 2014
VL 52
IS 1
SI SI
BP 77
EP 83
DI 10.1515/cclm-2012-0833
PG 7
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA 275OV
UT WOS:000328687600011
PM 23492569
ER
PT J
AU Pisano, S
Milone, A
Gemo, I
Masi, G
AF Pisano, Simone
Milone, Annarita
Gemo, Ilaria
Masi, Gabriele
TI High-functioning autism spectrum disorder associated with CHARGE
syndrome: a case report
SO CLINICAL DYSMORPHOLOGY
LA English
DT Article
C1 [Pisano, Simone; Milone, Annarita; Gemo, Ilaria; Masi, Gabriele] IRCCS Stella Maris, Sci Inst Child Neurol & Psychiat, I-56018 Pisa, Italy.
[Pisano, Simone] Univ Naples 2, Dept Mental & Phys Hlth, Naples, Italy.
[Pisano, Simone] Univ Naples 2, Prevent Med Child & Adolescent Psychiat Div, Naples, Italy.
RP Pisano, S (reprint author), IRCCS Stella Maris, Sci Inst Child Neurol & Psychiat, Via Giacinti 2, I-56018 Pisa, Italy.
EM pisano.simone@gmail.com
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Smith IM, 2005, AM J MED GENET A, V133A, P248, DOI 10.1002/ajmg.a.30544
NR 10
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0962-8827
EI 1473-5717
J9 CLIN DYSMORPHOL
JI Clin. Dysmorphol.
PD JAN
PY 2014
VL 23
IS 1
BP 35
EP 37
DI 10.1097/MCD.0000000000000014
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA 270VO
UT WOS:000328347500010
PM 24172694
ER
PT J
AU Koolen, S
Vissers, CTWM
Egger, JIM
Verhoeven, L
AF Koolen, S.
Vissers, C. Th. W. M.
Egger, J. I. M.
Verhoeven, L.
TI Monitoring in language perception in high-functioning adults with autism
spectrum disorder: Evidence from event-related potentials
SO CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Autism; Language; Monitoring; Attention; Event-related potentials; P600
effect
ID BRAIN POTENTIALS; NEURAL MECHANISMS; PARSING ROUTINES; COGNITIVE-STYLE;
WORKING-MEMORY; COMPREHENSION; ERPS; ANOMALIES; SENTENCES; SPEECH
AB Objectives: Autism spectrum disorder (ASD) is characterized by impaired global language processing, whereas local language processing often appears intact. Recent psycholinguistic research suggests that the quality of language perception relies on monitoring, an aspect of executive control. The aim of the study was to examine monitoring in people with ASD of (a) local, orthographic violations, and (b) global, syntactic violations, when provided with single level versus dual level task instructions.
Methods: We recorded event-related potentials and compared P600 effects to the linguistic violations relative to correct words in 14 adults with ASD and 14 matched controls.
Results: In control participants, local errors elicited a monitoring response as tapped by the P600 effect in both conditions. For global errors, the P600 effect was present only at one centroposterior site in the single level condition, whereas in the dual level condition a broadly distributed effect was obtained. People with ASD, however, showed a monitoring response to local and global errors both in the single and dual level condition.
Conclusions: The main ERP finding suggests that when instructed people with ASD monitor global aspects of language already under simple circumstances, whereas people without ASD mainly do so under more complex circumstances.
Significance: Results suggest that language problems in ASD should not be studied in terms of a linguistic dysfunction as such, but in light of the use of executive resources during language comprehension. (C) 2013 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.
C1 [Koolen, S.; Egger, J. I. M.; Verhoeven, L.] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
[Vissers, C. Th. W. M.; Egger, J. I. M.] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands.
[Vissers, C. Th. W. M.; Egger, J. I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Ctr Cognit, NL-6500 HE Nijmegen, Netherlands.
RP Koolen, S (reprint author), Radboud Univ Nijmegen, Inst Behav Sci, POB 9104, NL-6500 HE Nijmegen, Netherlands.
EM s.koolen@pwo.ru.nl
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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 1388-2457
EI 1872-8952
J9 CLIN NEUROPHYSIOL
JI Clin. Neurophysiol.
PD JAN
PY 2014
VL 125
IS 1
BP 108
EP 123
DI 10.1016/j.clinph.2013.06.021
PG 16
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 272ZD
UT WOS:000328501200015
PM 23867067
ER
PT J
AU Christensen, D
Braun, KVN
Doernberg, NS
Maenner, MJ
Arneson, CL
Durkin, MS
Benedict, RE
Kirby, RS
Wingate, MS
Fitzgerald, R
Yeargin-Allsopp, M
AF Christensen, Deborah
Braun, Kim Van Naarden
Doernberg, Nancy S.
Maenner, Matthew J.
Arneson, Carrie L.
Durkin, Maureen S.
Benedict, Ruth E.
Kirby, Russell S.
Wingate, Martha S.
Fitzgerald, Robert
Yeargin-Allsopp, Marshalyn
TI Prevalence of cerebral palsy, co-occurring autism spectrum disorders,
and motor functioning - Autism and Developmental Disabilities Monitoring
Network, USA, 2008
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID UNITED-STATES; CHILDREN; CLASSIFICATION; EUROPE
AB AimThe aim of this study was to report the prevalence and characteristics of children with cerebral palsy (CP).
MethodChildren with CP (n=451) were ascertained by the Autism and Developmental Disabilities Monitoring (ADDM) Network, a population-based, record-review surveillance system monitoring CP in four areas of the USA. Prevalence was calculated as the number of children with CP among all 8-year-old children residing in these areas in 2008. Motor function was categorized by Gross Motor Function Classification System level and walking ability. Co-occurring autism spectrum disorders (ASD) and epilepsy were ascertained using ADDM Network surveillance methodology.
ResultsThe period prevalence of CP for 2008 was 3.1 per 1000 8-year-old children (95% confidence interval 2.8-3.4). Approximately 58% of children walked independently. Co-occurring ASD frequency was 6.9% and was higher (18.4%) among children with non-spastic CP, particularly hypotonic CP. Co-occurring epilepsy frequency was 41% overall, did not differ by ASD status or CP subtype, and was highest (67%) among children with limited or no walking ability.
InterpretationThe prevalence of CP in childhood from US surveillance data has remained relatively constant, in the range of 3.1 to 3.6 per 1000, since 1996. The higher frequency of ASD in non-spastic than in spastic subtypes of CP calls for closer examination.
This article is commented on by Zwaigenbaum on pages of this issue.
C1 [Christensen, Deborah; Braun, Kim Van Naarden; Doernberg, Nancy S.; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
[Maenner, Matthew J.; Arneson, Carrie L.; Durkin, Maureen S.; Benedict, Ruth E.] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Maenner, Matthew J.; Durkin, Maureen S.] Univ Wisconsin, Dept Populat Hlth Sci, Madison, WI USA.
[Benedict, Ruth E.] Univ Wisconsin, Dept Kinesiol, Occupat Therapy Program, Madison, WI USA.
[Kirby, Russell S.] Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, Tampa, FL USA.
[Wingate, Martha S.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Hlth Care Org & Policy, Birmingham, AL 35294 USA.
[Fitzgerald, Robert] Washington Univ, Dept Psychiat, St Louis, MO USA.
RP Christensen, D (reprint author), Ctr Dis Control & Prevent, Div Birth Defects & Dev Disabil, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd NE,MS E-86, Atlanta, GA 30333 USA.
EM dqc3@cdc.gov
RI Durkin, Maureen/B-7834-2015
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NR 23
TC 11
Z9 11
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD JAN
PY 2014
VL 56
IS 1
BP 59
EP 65
DI 10.1111/dmcn.12268
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400013
PM 24117446
ER
PT J
AU Williams, ME
Fink, C
Zamora, I
Borchert, M
AF Williams, Marian E.
Fink, Cassandra
Zamora, Irina
Borchert, Mark
TI Autism assessment in children with optic nerve hypoplasia and other
vision impairments
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LEBERS CONGENITAL AMAUROSIS; BLIND-CHILDREN; SPECTRUM DISORDERS;
YOUNG-CHILDREN; FEATURES
AB AimThis study examined the utility of standard autism diagnostic measures in nine children (aged 5-9y) with severe vision impairment and a range of social and language functioning.
MethodThe Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview, Revised (ADI-R) were systematically modified and used to assess symptoms of autism in children with vision less than or equal to 20/800, the majority of whom had optic nerve hypoplasia. The results of the assessments, including analysis of symptom patterns, were compared with expert autism diagnoses.
ResultsModified autism measures demonstrated good agreement with clinical diagnoses. Symptoms found to be most and least reliable in discriminating autism from behaviors common to most children with congenital vision impairment are described. Comparisons of current behavior with parent-reported behaviors from a younger age suggested that some symptoms of autism in very young children who are congenitally blind may improve with age.
InterpretationThe ADOS and ADI-R are useful for clinical assessment and for advancing research efforts to understand autism symptoms in children with vision impairment. However, some autistic symptoms in very young children may change over time, and developmental changes should be closely monitored.
This article is commented on by Matsuba on pages of this issue.
C1 [Williams, Marian E.] Univ So Calif, Keck Sch Med, Los Angeles, CA 90027 USA.
[Fink, Cassandra; Borchert, Mark] Childrens Hosp Los Angeles, Vis Ctr, Los Angeles, CA 90027 USA.
[Williams, Marian E.; Zamora, Irina] Univ So Calif, Univ Ctr Excellence Dev Disabil, Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA.
RP Williams, ME (reprint author), Univ So Calif, Univ Ctr Excellence Dev Disabil, Childrens Hosp Los Angeles, 4650 Sunset Blvd,MS 53, Los Angeles, CA 90027 USA.
EM mwilliams@chla.usc.edu
FU Joseph Drown Foundation
FX This research was supported in part by a grant from the Joseph Drown
Foundation. The funder had no involvement in study design, data
collection, data analysis, manuscript preparation, and/or publication
decisions. The authors thank Ruth Rosner, Terese Pawletko, Pamela
Garcia-Filion, and Adriana Anaya for their consultation and assistance
with the study.
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NR 27
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD JAN
PY 2014
VL 56
IS 1
BP 66
EP 72
DI 10.1111/dmcn.12264
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400014
PM 24000901
ER
PT J
AU Venkateswaran, S
Mcmillan, HJ
Doja, A
Humphreys, P
AF Venkateswaran, Sunita
Mcmillan, Hugh J.
Doja, Asif
Humphreys, Peter
TI Adolescent onset cognitive regression and neuropsychiatric symptoms
associated with the A140V MECP2 mutation
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LINKED MENTAL-RETARDATION; RETT-SYNDROME; PPM-X; ABNORMALITIES; FAMILY;
GENE
AB The phenotype attributed to MECP2 mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (PPM-X) has been described only in males. We report on the first female with the A140V MECP2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider MECP2 sequencing in females with non-classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.
C1 [Venkateswaran, Sunita; Mcmillan, Hugh J.; Doja, Asif; Humphreys, Peter] Childrens Hosp Eastern Ontario, Div Neurol, Dept Pediat, Ottawa, ON K1H 8L1, Canada.
RP Venkateswaran, S (reprint author), Childrens Hosp Eastern Ontario, Div Neurol, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada.
EM svenkateswaran@cheo.on.ca
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NR 18
TC 0
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD JAN
PY 2014
VL 56
IS 1
BP 91
EP 94
DI 10.1111/dmcn.12334
PG 4
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 267WG
UT WOS:000328128400018
PM 24328834
ER
PT J
AU van den Boomen, C
Lamme, VAF
Kemner, C
AF van den Boomen, Carlijn
Lamme, Victor A. F.
Kemner, Chantal
TI Parallel development of ERP and behavioural measurements of visual
segmentation
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID FIGURE-GROUND SEGMENTATION; AUTISM SPECTRUM DISORDER; TEXTURE
SEGREGATION; CONTOUR INTEGRATION; MAGNETIC-RESONANCE; DISTINCT MODES;
CORTEX; CONNECTIVITY; FEEDFORWARD; CHILDREN
AB Visual segmentation, a process in which elements are integrated into a form and segregated from the background, is known to differ from adults at infancy. The further developmental trajectory of this process, and of the underlying brain mechanisms, during childhood and adolescence is unknown. The aim of the study was to investigate the developmental trajectory of ERP reflections of visual segmentation, and to relate this to behavioural performance. One hundred and eleven typically developing children from 7 to 18years of age were divided into six age groups. Each child performed two visual tasks. In a texture segmentation task, the difference in event-related potential (ERP) response to homogeneous (no visual segmentation) and checkered stimuli (visual segmentation) was investigated. In addition, behavioural performance on integration of elements into contours was measured. Both behavioural and ERP measurements of visual segmentation differed from adults in 7-12year-old children. Behaviourally, young children were less able to integrate elements into a contour than older children. In addition, a developmental change was present in the ERP pattern evoked by homogeneous versus checkered stimuli. The largest differences in behaviour and ERPs were found between 7-8- and 9-10-, and between 11-12- and 13-14-year-old children, indicating the strongest development between those age groups. Behavioural as well as ERP measurements at 13-14years of age showed similar results to those of adults. These results reveal that visual segmentation continues to develop until early puberty. Only by 13-14years of age, children do integrate and segregate visual information as adults do. These results can be interpreted in terms of functional connectivity within the visual cortex.
C1 [van den Boomen, Carlijn; Kemner, Chantal] Helmholtz Inst, Dept Expt Psychol, Utrecht, Netherlands.
[van den Boomen, Carlijn; Kemner, Chantal] Univ Utrecht, Dept Dev Psychol, NL-3584 CS Utrecht, Netherlands.
[Lamme, Victor A. F.] Univ Amsterdam, Dept Psychol, Fac Behav & Societal Sci, NL-1012 WX Amsterdam, Netherlands.
[Kemner, Chantal] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Child & Adolescent Psychiat, Utrecht, Netherlands.
RP van den Boomen, C (reprint author), Univ Utrecht, Dept Expt Psychol, Heidelberglaan 2,Unnik Bldg Room 16-17, NL-3584 CS Utrecht, Netherlands.
EM C.vandenboomen@uu.nl
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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 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JAN
PY 2014
VL 17
IS 1
BP 1
EP 10
DI 10.1111/desc.12093
PG 10
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 274AT
UT WOS:000328578100001
PM 24102702
ER
PT J
AU Weigelt, S
Koldewyn, K
Dilks, DD
Balas, B
McKone, E
Kanwisher, N
AF Weigelt, Sarah
Koldewyn, Kami
Dilks, Daniel D.
Balas, Benjamin
McKone, Elinor
Kanwisher, Nancy
TI Domain-specific development of face memory but not face perception
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; INDIVIDUAL-DIFFERENCES; RECOGNITION ABILITY;
VISUAL-CORTEX; PROSOPAGNOSIA; CHILDHOOD; OBJECTS; PROSOPAMNESIA;
CONNECTIVITY; ADOLESCENCE
AB How does the remarkable human ability for face recognition arise over development? Competing theories have proposed either late maturity (beyond 10years) or early maturity (before 5years), but have not distinguished between perceptual and memory aspects of face recognition. Here, we demonstrate a perception-memory dissociation. We compare rate of development for (adult, human) faces versus other social stimuli (bodies), other discrete objects (cars), and other categories processed in discrete brain regions (scenes, bodies), from 5years to adulthood. For perceptual discrimination, performance improved with age at the same rate for faces and all other categories, indicating no domain-specific development. In contrast, face memory increased more strongly than non-face memory, indicating domain-specific development. The results imply that each theory is partly true: the late maturity theory holds for face memory, and the early maturity theory for face perception.
C1 [Weigelt, Sarah; Koldewyn, Kami; Dilks, Daniel D.; Balas, Benjamin; Kanwisher, Nancy] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Weigelt, Sarah] Ruhr Univ Bochum, Dept Psychol, D-44801 Bochum, Germany.
[Balas, Benjamin] N Dakota State Univ, Dept Psychol, Fargo, ND USA.
[McKone, Elinor] Australian Natl Univ, Dept Psychol, Canberra, ACT 0200, Australia.
RP Weigelt, S (reprint author), Ruhr Univ Bochum, Fak Psychol, Univ Str 150, D-44801 Bochum, Germany.
EM sarah.weigelt@rub.de
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NR 42
TC 9
Z9 9
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD JAN
PY 2014
VL 17
IS 1
BP 47
EP 58
DI 10.1111/desc.12089
PG 12
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA 274AT
UT WOS:000328578100005
PM 24118764
ER
PT J
AU McMichael, G
Girirajan, S
Moreno-De-Luca, A
Gecz, J
Shard, C
Nguyen, LS
Nicholl, J
Gibson, C
Haan, E
Eichler, E
Martin, CL
MacLennan, A
AF McMichael, Gai
Girirajan, Santhosh
Moreno-De-Luca, Andres
Gecz, Jozef
Shard, Chloe
Lam Son Nguyen
Nicholl, Jillian
Gibson, Catherine
Haan, Eric
Eichler, Evan
Martin, Christa Lese
MacLennan, Alastair
TI Rare copy number variation in cerebral palsy
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE copy number; cerebral palsy; microarray
ID AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; STRUCTURAL
VARIATION; DEVELOPMENTAL DELAY; MENTAL-RETARDATION; DEFICIENCY CAUSES;
ARRAY CGH; GENE; MICRODELETION; MICROCEPHALIN
AB Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (<1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in <0.1% (<8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation.
C1 [McMichael, Gai; Gibson, Catherine; MacLennan, Alastair] Univ Adelaide, Robinson Inst, Adelaide, SA, Australia.
[Girirajan, Santhosh; Eichler, Evan] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA.
[Moreno-De-Luca, Andres] Geisinger Hlth Syst, Autism & Dev Med Inst, Genom Med Inst, Danville, PA USA.
[Moreno-De-Luca, Andres] Geisinger Hlth Syst, Dept Pediat, Danville, PA USA.
[Gecz, Jozef; Nicholl, Jillian] SA Pathol Womens & Childrens Hosp, Adelaide, SA, Australia.
[Gecz, Jozef; Shard, Chloe; Lam Son Nguyen] Univ Adelaide, Womens & Childrens Hosp, Dept Paediat, Adelaide, SA, Australia.
[Haan, Eric] Univ Adelaide, South Australian Clin Genet Serv, SA Pathol Womens & Childrens Hosp, Adelaide, SA, Australia.
[Haan, Eric] Univ Adelaide, Discipline Paediat, Adelaide, SA, Australia.
[Martin, Christa Lese] Emory Univ, Dept Human Genet, Sch Med, Atlanta, GA USA.
RP McMichael, G (reprint author), Univ Adelaide, Robinson Inst, Level 3,Norwich Bldg,55 King William St, Adelaide, SA 5005, Australia.
EM gai.mcmichael@adelaide.edu.au
FU Australian National Health and Medical Research Council [1019928,
401184]; CP Alliance Research Foundation; Women's and Children's
Hospital Foundation; National Institute of Health; National Institute of
Mental Health [074090-08]
FX We thank Corinne Reynolds, Dr Michael O'Callaghan, Jessica Broadbent,
Drs Ray Russo, James Rice and Andrew Tidemann of the Paediatric
Rehabilitation Department at the Women's and Children's Hospital,
Adelaide for help with case recruitment. We especially thank the
families that participated in this study. This study is funded by the
Australian National Health and Medical Research Council (Grant No.
1019928), CP Alliance Research Foundation, Women's and Children's
Hospital Foundation and the National Institute of Health and National
Institute of Mental Health (Grant No. 074090-08). DNA/cell lines were
provided by Genetic Repositories Australia, an Enabling Facility
supported by the Australian National Health and Medical Research Council
(Grant No. 401184).
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NR 48
TC 4
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 JAN
PY 2014
VL 22
IS 1
BP 40
EP 45
DI 10.1038/ejhg.2013.93
PG 6
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600013
PM 23695280
ER
PT J
AU Mullegama, SV
Rosenfeld, JA
Orellana, C
van Bon, BWM
Halbach, S
Repnikova, EA
Brick, L
Li, CM
Dupuis, L
Rosello, M
Aradhya, S
Stavropoulos, DJ
Manickam, K
Mitchell, E
Hodge, JC
Talkowski, ME
Gusella, JF
Keller, K
Zonana, J
Schwartz, S
Pyatt, RE
Waggoner, DJ
Shaffer, LG
Lin, AE
de Vries, BBA
Mendoza-Londono, R
Elsea, SH
AF Mullegama, Sureni V.
Rosenfeld, Jill A.
Orellana, Carmen
van Bon, Bregje W. M.
Halbach, Sara
Repnikova, Elena A.
Brick, Lauren
Li, Chumei
Dupuis, Lucie
Rosello, Monica
Aradhya, Swaroop
Stavropoulos, D. James
Manickam, Kandamurugu
Mitchell, Elyse
Hodge, Jennelle C.
Talkowski, Michael E.
Gusella, James F.
Keller, Kory
Zonana, Jonathan
Schwartz, Stuart
Pyatt, Robert E.
Waggoner, Darrel J.
Shaffer, Lisa G.
Lin, Angela E.
de Vries, Bert B. A.
Mendoza-Londono, Roberto
Elsea, Sarah H.
TI Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5
in autism spectrum disorder
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE MBD5; gene dosage; 2q23.1; autism spectrum disorder; microduplication;
microdeletion
ID SMITH-MAGENIS SYNDROME; MICRODUPLICATION SYNDROMES; INTELLECTUAL
DISABILITY; MICRODELETION; DIAGNOSIS; FEATURES; NETWORK
AB Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. We previously established the 2q23.1 microdeletion syndrome and report herein 23 individuals with 2q23.1 duplications, thus establishing a complementary duplication syndrome. The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital anomalies (fifth finger clinodactyly and large broad first toe). The microduplication size varies among all cases and ranges from 68 kb to 53.7 Mb, encompassing a region that includes MBD5, an important factor in methylation patterning and epigenetic regulation. We previously reported that haploinsufficiency of MBD5 is the primary causal factor in 2q23.1 microdeletion syndrome and that mutations in MBD5 are associated with autism. In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. Phenotypic analyses suggest that 2q23.1 duplication results in a slightly less severe phenotype than the reciprocal deletion. The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.
C1 [Mullegama, Sureni V.; Elsea, Sarah H.] Virginia Commonwealth Univ, Sch Med, Dept Human & Mol Genet, Richmond, VA USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA.
[Orellana, Carmen; Rosello, Monica] Univ & Polytech Hosp La Fe, Serv Genet & Prenatal Diag, Valencia, Spain.
[van Bon, Bregje W. M.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Halbach, Sara; Waggoner, Darrel J.] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.
[Repnikova, Elena A.; Pyatt, Robert E.] Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH USA.
[Brick, Lauren; Li, Chumei] McMaster Univ, Med Ctr, Clin Genet Program, Dept Pediat, Hamilton, ON, Canada.
[Brick, Lauren; Li, Chumei] McMaster Childrens Hosp, Hamilton, ON, Canada.
[Dupuis, Lucie] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada.
[Dupuis, Lucie; Mendoza-Londono, Roberto] Univ Toronto, Toronto, ON, Canada.
[Aradhya, Swaroop] GeneDx, Gaithersburg, MD USA.
[Stavropoulos, D. James] Hosp Sick Children, Cytogenet Lab, Dept Pediat Lab Med, Toronto, ON M5G 1X8, Canada.
[Stavropoulos, D. James] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada.
[Manickam, Kandamurugu] Nationwide Childrens Hosp, Dept Pediat, Columbus, OH USA.
[Mitchell, Elyse; Hodge, Jennelle C.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.
[Mitchell, Elyse; Hodge, Jennelle C.] Mayo Clin, Dept Med Genet, Rochester, MN USA.
[Talkowski, Michael E.; Gusella, James F.; Lin, Angela E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA.
[Talkowski, Michael E.; Gusella, James F.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
[Talkowski, Michael E.; Gusella, James F.] Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02138 USA.
[Talkowski, Michael E.; Gusella, James F.] Harvard Univ, Sch Med, Dept Neurol, Cambridge, MA 02138 USA.
[Keller, Kory; Zonana, Jonathan] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Child Dev & Rehabil Ctr, Portland, OR 97201 USA.
[Schwartz, Stuart] Lab Corp Amer, Durham, NC USA.
[Shaffer, Lisa G.] Genetic Vet Sci Inc, Paw Print Genet, Spokane, WA USA.
[Lin, Angela E.] Massachusetts Gen Hosp Children, Boston, MA USA.
[Elsea, Sarah H.] Virginia Commonwealth Univ, Sch Med, Dept Pediat, Richmond, VA USA.
[Elsea, Sarah H.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
RP Elsea, SH (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
EM elsea@bcm.edu
RI Orellana, Carmen/B-1925-2009; Rosello, Monica/B-2319-2009
OI Orellana, Carmen/0000-0003-4271-5859; Rosello,
Monica/0000-0001-9234-2953
FU Fondation Jerome Lejeune
FX We are thankful to all of the subjects and families involved in this
study. We are grateful for the assistance of Dr Trang Le, Ms Zalak Shah,
Mr Joshua Beach and Ms Jessica Webster in the collection of clinical
data and in the preparation of this manuscript and to Dr Shelley Waite
for neurologic evaluation of case MGH2. We thank the Fondation Jerome
Lejeune (SHE) for funding portions of this study. This work was
supported in part by resources from Virginia Commonwealth University and
the Ramon Areces Foundation.
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NR 24
TC 9
Z9 9
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 JAN
PY 2014
VL 22
IS 1
BP 57
EP 63
DI 10.1038/ejhg.2013.67
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600016
PM 23632792
ER
PT J
AU Fusco, C
Micale, L
Augello, B
Pellico, MT
Menghini, D
Alfieri, P
Digilio, MC
Mandriani, B
Carella, M
Palumbo, O
Vicari, S
Merla, G
AF Fusco, Carmela
Micale, Lucia
Augello, Bartolomeo
Pellico, Maria Teresa
Menghini, Deny
Alfieri, Paolo
Digilio, Maria Cristina
Mandriani, Barbara
Carella, Massimo
Palumbo, Orazio
Vicari, Stefano
Merla, Giuseppe
TI Smaller and larger deletions of the Williams Beuren syndrome region
implicate genes involved in mild facial phenotype, epilepsy and autistic
traits
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE Williams Beuren syndrome; 7q11.23; haploinsufficiency; qPCR
ID ATYPICAL 7Q11.23 DELETION; INFANTILE SPASMS; GTF2IRD1; COGNITION;
TRANSCRIPTION; PATIENT; PROTEIN; PROFILE; ROLES; YWHAG
AB Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry similar to 3.5Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of similar to 1.2Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.
C1 [Fusco, Carmela; Micale, Lucia; Augello, Bartolomeo; Pellico, Maria Teresa; Mandriani, Barbara; Carella, Massimo; Palumbo, Orazio; Merla, Giuseppe] IRCCS Casa Sollievo Sofferenza, Med Genet Unit, San Giovanni Rotondo, Italy.
[Menghini, Deny; Alfieri, Paolo; Vicari, Stefano] IRCCS Children Hosp Bambino Gesu, Dept Neurosci, Child NeuroPsychiat Unit, Rome, Italy.
[Digilio, Maria Cristina] IRCCS Children Hosp Bambino Gesu, Rome, Italy.
[Mandriani, Barbara] Univ Brescia, Brescia, Italy.
[Merla, Giuseppe] Univ Trieste, Trieste, Italy.
RP Merla, G (reprint author), IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy.
EM g.merla@operapadrepio.it
RI PALUMBO, ORAZIO/C-1133-2014
OI PALUMBO, ORAZIO/0000-0001-6583-3482
FU Italian Ministry of Health (Ricerca Corrente) [2008 10]; Jerome Lejeune
Foundation; Telethon Network of Genetic Biobanks [GTB12001]; Telethon
Italy
FX We thank all the families that agreed to participate and get possible
this study. This work was in part supported by grants from the Italian
Ministry of Health (Ricerca Corrente 2008 10) and the Jerome Lejeune
Foundation to GM. The GDB bank, member of the Telethon Network of
Genetic Biobanks (Project No. GTB12001), funded by Telethon Italy,
provided us with some WBS specimens.
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TC 2
Z9 2
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 JAN
PY 2014
VL 22
IS 1
BP 64
EP 70
DI 10.1038/ejhg.2013.101
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600017
PM 23756441
ER
PT J
AU Nava, C
Keren, B
Mignot, C
Rastetter, A
Chantot-Bastaraud, S
Faudet, A
Fonteneau, E
Amiet, C
Laurent, C
Jacquette, A
Whalen, S
Afenjar, A
Perisse, D
Doummar, D
Dorison, N
Leboyer, M
Siffroi, JP
Cohen, D
Brice, A
Heron, D
Depienne, C
AF Nava, Caroline
Keren, Boris
Mignot, Cyril
Rastetter, Agnes
Chantot-Bastaraud, Sandra
Faudet, Anne
Fonteneau, Eric
Amiet, Claire
Laurent, Claudine
Jacquette, Aurelia
Whalen, Sandra
Afenjar, Alexandra
Perisse, Didier
Doummar, Diane
Dorison, Nathalie
Leboyer, Marion
Siffroi, Jean-Pierre
Cohen, David
Brice, Alexis
Heron, Delphine
Depienne, Christel
TI Prospective diagnostic analysis of copy number variants using SNP
microarrays in individuals with autism spectrum disorders
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE copy number variants; autism spectrum disorders; 15q11-q12 triplication;
autosomal recessive inheritance; genetic interactions
ID DE-NOVO MUTATIONS; 3Q29 MICRODELETION SYNDROME; RECEPTOR SUBTYPE EP3;
GENES; RISK; REARRANGEMENTS; SCHIZOPHRENIA; DELETION; REGION; MICE
AB Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge.
C1 [Nava, Caroline; Rastetter, Agnes; Laurent, Claudine; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere ICM, INSERM, CRICM U975, F-75013 Paris, France.
[Nava, Caroline; Rastetter, Agnes; Laurent, Claudine; Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, CNRS CRICM 7225, F-75013 Paris, France.
[Nava, Caroline; Rastetter, Agnes; Brice, Alexis; Depienne, Christel] Univ Paris 06, UMR S 975, Paris, France.
[Nava, Caroline; Mignot, Cyril; Faudet, Anne; Jacquette, Aurelia; Whalen, Sandra; Afenjar, Alexandra; Brice, Alexis; Heron, Delphine; Depienne, Christel] Unite Fonct Genet Clin, Dept Genet & Cytogenet, Hop La Pitie Salpetriere, AP HP, Paris, France.
[Keren, Boris; Fonteneau, Eric] Unite Fonct Cytogenet, Dept Genet & Cytogenet, Hop La Pitie Salpetriere, AP HP, Paris, France.
[Mignot, Cyril; Afenjar, Alexandra; Doummar, Diane; Dorison, Nathalie; Heron, Delphine] Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France.
[Mignot, Cyril; Jacquette, Aurelia; Afenjar, Alexandra; Heron, Delphine] Ctr Reference Deficiences Intellectuelles Causes, Paris, France.
[Mignot, Cyril; Jacquette, Aurelia; Afenjar, Alexandra; Heron, Delphine] UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aus, Paris, France.
[Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre] Hop Armand Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France.
[Amiet, Claire; Laurent, Claudine; Perisse, Didier; Cohen, David] Hop La Pitie Salpetriere, AP HP, Serv Psychiat Enfant & Adolescent, F-75013 Paris, France.
[Afenjar, Alexandra; Dorison, Nathalie] Hop Armand Trousseau, Ctr Reference Anomalies Dev & Syndromes Malformat, Paris, France.
[Perisse, Didier] Hop La Pitie Salpetriere, Ctr Diagnost Autisme, F-75013 Paris, France.
[Leboyer, Marion] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France.
[Leboyer, Marion] Univ Paris Est, Fac Med, Creteil, France.
[Leboyer, Marion] Hop H Mondor A Chenevier, AP HP, Pole Psychiat, Creteil, France.
[Leboyer, Marion] Fdn FondaMental, Creteil, France.
[Cohen, David] Univ Paris 06, CNRS UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
[Brice, Alexis; Depienne, Christel] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, F-75013 Paris, France.
RP Depienne, C (reprint author), Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere ICM, INSERM, CRICM U975, F-75013 Paris, France.
EM christel.depienne@upmc.fr
FU AP-HP (DHOS); Fondation de France; ERA-NET NEURON EUHFAUTISM; INSERM
FX We thank the P3S platform, the 'Plateau technique Mutualise du GHU Est',
and the genotyping and sequencing platform of the ICM for technical
assistance and the DNA and cell bank of CRICM for DNA extraction and
cell culture. We also thank Dr Merle Ruberg for critical reading of the
manuscript and Sophie Rivaud-Pechoux for her help with the statistical
analysis. This study was financially supported by AP-HP (DHOS),
Fondation de France, ERA-NET NEURON EUHFAUTISM and INSERM.
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NR 48
TC 8
Z9 8
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 JAN
PY 2014
VL 22
IS 1
BP 71
EP 78
DI 10.1038/ejhg.2013.88
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600018
PM 23632794
ER
PT J
AU Polan, MB
Pastore, MT
Steingass, K
Hashimoto, S
Thrush, DL
Pyatt, R
Reshmi, S
Gastier-Foster, JM
Astbury, C
McBride, KL
AF Polan, Michelle B.
Pastore, Matthew T.
Steingass, Katherine
Hashimoto, Sayaka
Thrush, Devon L.
Pyatt, Robert
Reshmi, Shalini
Gastier-Foster, Julie M.
Astbury, Caroline
McBride, Kim L.
TI Neurodevelopmental disorders among individuals with duplication of 4p13
to 4p12 containing a GABA(A) receptor subunit gene cluster
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE autism; bipolar disorder; chromosome disorders; DNA copy number
variation; intellectual disabilities; GABA(A)
ID FEBRILE SEIZURES; COPY NUMBER; EPILEPSY; DISEASE; AUTISM
AB Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABA(A)). Clusters of GABA(A) receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Maternally inherited 15q11-13 duplications among individuals with neurodevelopmental disorders are well described, but few case reports exist for the other regions. We describe a family with a 2.42Mb duplication at chromosome 4p13 to 4p12, identified in the index case and other family members by oligonucleotide array comparative genomic hybridization, that contains 13 genes including a cluster of four GABA(A) receptor subunit genes. Fluorescent in-situ hybridization was used to confirm the duplication. The duplication segregates with a variety of neurodevelopmental disorders in this family, including ASD (index case), developmental delay, dyspraxia and ADHD (brother), global developmental delays (brother), learning disabilities (mother) and bipolar disorder (maternal grandmother). In addition, we identified and describe another individual unrelated to this family, with a similar duplication, who was diagnosed with ASD, ADHD and borderline intellectual disability. The 4p13 to 4p12 duplication appears to confer a susceptibility to a variety of neurodevelopmental disorders in these two families. We hypothesize that the duplication acts through a dosage effect of GABA(A) receptor subunit genes, adding evidence for alterations in the GABAergic system in the etiology of neurodevelopmental disorders.
C1 [Polan, Michelle B.; Pastore, Matthew T.; McBride, Kim L.] Nationwide Childrens Hosp, Res Inst, Div Mol & Human Genet, Columbus, OH 43205 USA.
[Pastore, Matthew T.; Steingass, Katherine; Gastier-Foster, Julie M.; McBride, Kim L.] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA.
[Steingass, Katherine] Nationwide Childrens Hosp, Res Inst, Div Behav Pediat, Columbus, OH 43205 USA.
[Hashimoto, Sayaka; Thrush, Devon L.; Pyatt, Robert; Reshmi, Shalini; Gastier-Foster, Julie M.; Astbury, Caroline] Nationwide Childrens Hosp, Res Inst, Dept Pathol & Lab Med, Columbus, OH 43205 USA.
[Thrush, Devon L.; Pyatt, Robert; Reshmi, Shalini; Gastier-Foster, Julie M.; Astbury, Caroline] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA.
[McBride, Kim L.] Nationwide Childrens Hosp, Res Inst, Ctr Cardiovasc & Pulm Res, Columbus, OH 43205 USA.
RP McBride, KL (reprint author), Nationwide Childrens Hosp, Res Inst, Div Mol & Human Genet, 700 Childrens Dr, Columbus, OH 43205 USA.
EM Kim.McBride@nationwidechildrens.org
RI McBride, Kim/A-5879-2008; Pastore, Matthew/B-6867-2012; Astbury,
Caroline/E-2665-2011; Gastier-Foster, Julie/E-3105-2011
OI McBride, Kim/0000-0002-8407-8942;
CR Betancur C, 2011, BRAIN RES, V1380, P42, DOI 10.1016/j.brainres.2010.11.078
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NR 18
TC 2
Z9 2
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 JAN
PY 2014
VL 22
IS 1
BP 105
EP 109
DI 10.1038/ejhg.2013.99
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 275PP
UT WOS:000328689600023
PM 23695283
ER
PT J
AU Ryoo, SM
Sohn, CH
Oh, BJ
Kim, WY
Lim, KS
AF Ryoo, S. M.
Sohn, C. H.
Oh, B. J.
Kim, W. Y.
Lim, K. S.
TI A case of severe methemoglobinemia caused by hair dye poisoning
SO HUMAN & EXPERIMENTAL TOXICOLOGY
LA English
DT Article
DE Methemoglobinemia; paraphenylenediamine; methylene blue; ingestion;
cyanosis
ID MANAGEMENT
AB Context: Hair dyes are widely used and very popular xenobiotics. Most of these products contain paraphenylenediamine (PPD) that can cause methemoglobinemia. We here report a case of severe methemoglobinemia that we treated using large amounts of methylene blue. Case details: A 30-year-old man visited a regional hospital with cyanosis. He was congenitally blind and had autism. For several weeks, he had mistaken hair dye for toothpaste. When he arrived at a regional hospital, he was drowsy with cyanosis and his initial serum methemoglobin (MetHb) level was 59.5%. After being treated with 2mg/kg methylene blue (1mg/kgx2 administrations), he was transferred to a tertiary university hospital. Upon presentation at the Emergency Department in the tertiary hospital, his MetHb level was found to be 49.4% and his oxygen saturation was 80%. He was then admitted to the intensive care unit. After treatment with 4mg/kg methylene blue (1mg/kgx4 administrations), he successfully recovered. Discussion: Because PPD can result in serious methemoglobinemia, clinicians should test it in cyanotic patients who have been exposed to hair dye for an extended period.
C1 [Ryoo, S. M.; Sohn, C. H.; Oh, B. J.; Kim, W. Y.; Lim, K. S.] Univ Ulsan, Coll Med, Dept Emergency Med, Asan Med Ctr, Seoul 138736, South Korea.
RP Sohn, CH (reprint author), Univ Ulsan, Coll Med, Dept Emergency Med, Asan Med Ctr, 88 Olymp Ro,43 Gil, Seoul 138736, South Korea.
EM schwan97@gmail.com
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NR 10
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0960-3271
EI 1477-0903
J9 HUM EXP TOXICOL
JI Hum. Exp. Toxicol.
PD JAN
PY 2014
VL 33
IS 1
BP 103
EP 105
DI 10.1177/0960327113480973
PG 3
WC Toxicology
SC Toxicology
GA 274HY
UT WOS:000328598600011
PM 23515496
ER
PT J
AU Corradi, A
Fadda, M
Piton, A
Patry, L
Marte, A
Rossi, P
Cadieux-Dion, M
Gauthier, J
Lapointe, L
Mottron, L
Valtorta, F
Rouleau, GA
Fassio, A
Benfenati, F
Cossette, P
AF Corradi, Anna
Fadda, Manuela
Piton, Amelie
Patry, Lysanne
Marte, Antonella
Rossi, Pia
Cadieux-Dion, Maxime
Gauthier, Julie
Lapointe, Line
Mottron, Laurent
Valtorta, Flavia
Rouleau, Guy A.
Fassio, Anna
Benfenati, Fabio
Cossette, Patrick
TI SYN2 is an autism predisposing gene: loss-of-function mutations alter
synaptic vesicle cycling and axon outgrowth
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MOUSE MOTOR TERMINALS; I-DEFICIENT MICE; SYNAPSIN-II; SPECTRUM DISORDER;
NEUROTRANSMITTER RELEASE; INHIBITORY SYNAPSES; KNOCKOUT MICE; BEHAVIORAL
ABNORMALITIES; MENTAL-RETARDATION; RESTING POOL
AB An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of neuron-specific phosphoproteins (SYN1-3) present in the majority of synapses where they are implicated in the regulation of neurotransmitter release and synaptogenesis. Synapsins I and II, the major Syn isoforms in the adult brain, display partially overlapping functions and defects in both isoforms are associated with epilepsy and autistic-like behavior in mice. In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans. The phenotype is apparent in males. Female carriers of SYN2 mutations are unaffected, suggesting that SYN2 is another example of autosomal sex-limited expression in ASD. When expressed in SYN2 knockout neurons, wild-type human Syn II fully rescues the SYN2 knockout phenotype, whereas the nonsense mutant is not expressed and the missense mutants are virtually unable to modify the SYN2 knockout phenotype. These results identify for the first time SYN2 as a novel predisposing gene for ASD and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies ASD.
C1 [Corradi, Anna; Fadda, Manuela; Marte, Antonella; Rossi, Pia; Fassio, Anna; Benfenati, Fabio] Univ Genoa, Dept Expt Med, I-16132 Genoa, Italy.
[Fadda, Manuela; Fassio, Anna; Benfenati, Fabio] Fdn Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16132 Genoa, Italy.
[Piton, Amelie; Patry, Lysanne; Cadieux-Dion, Maxime; Gauthier, Julie; Lapointe, Line; Mottron, Laurent; Rouleau, Guy A.; Cossette, Patrick] Univ Montreal, CHUM Hop Notre Dame, Ctr Excellence Neur, Montreal, PQ H2L 4M1, Canada.
[Piton, Amelie; Patry, Lysanne; Cadieux-Dion, Maxime; Gauthier, Julie; Lapointe, Line; Mottron, Laurent; Rouleau, Guy A.; Cossette, Patrick] Univ Montreal, CHUM Hop Notre Dame, CHUM Res Ctr, Montreal, PQ H2L 4M1, Canada.
[Valtorta, Flavia] Ist Sci San Raffaele, I-20132 Milan, Italy.
[Valtorta, Flavia] Univ Vita Salute San Raffaele, I-20132 Milan, Italy.
RP Benfenati, F (reprint author), Fdn Ist Italiano Tecnol, Dept Neurosci & Neurotechnol, Via Morego 30, I-16163 Genoa, Italy.
EM fabio.benfenati@iit.it
RI fassio, anna/K-4482-2014
OI fassio, anna/0000-0002-8801-038X
FU Canadian Institute for Health Research and Genome Canada; Savoy
Foundation; Italian Ministry of University and Research; Italian
Ministry of Health Progetto Giovani; Compagnia di San Paolo, Torino;
Quebec Ministry of International Relationships; Italian Ministry of
Foreign Affairs; Telethon, Italy
FX This work was supported by grants from the Canadian Institute for Health
Research and Genome Canada (to P. C. and G. A. R.), the Savoy Foundation
(to L. P.), the Italian Ministry of University and Research (PRIN to A.
C., F. B. and F. V.), the Italian Ministry of Health Progetto Giovani
(to A. F.), the Compagnia di San Paolo, Torino (to A. F., F. V. and F.
B.) and the Quebec Ministry of International Relationships and Italian
Ministry of Foreign Affairs (to P. C. and F. B.). Funding to pay the
Open Access publication charges for this article was provided by
Telethon, Italy.
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NR 72
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 JAN 1
PY 2014
VL 23
IS 1
BP 90
EP 103
DI 10.1093/hmg/ddt401
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 272SZ
UT WOS:000328482300008
PM 23956174
ER
PT J
AU Scott, KS
Tetnowski, JA
Flaitz, JR
Yaruss, JS
AF Scott, Kathleen Scaler
Tetnowski, John A.
Flaitz, James R.
Yaruss, J. Scott
TI Preliminary study of disfluency in school-aged children with autism
SO INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
LA English
DT Article
DE autism; school-aged children; Asperger's syndrome; stuttering;
dysfluency
ID WORD-FINAL DISFLUENCIES; ASPERGER-SYNDROME; SOCIOECONOMIC-STATUS;
LANGUAGE DISORDERS; SPECTRUM DISORDERS; BRAIN-DAMAGE; FLUENCY; SPEECH;
REPETITIONS; STUTTER
AB BackgroundIn recent years, there has been increased identification of disfluencies in individuals with autism, but limited examination of disfluencies in the school-age range of this population. We currently lack information about whether the disfluencies of children with autism represent concomitant stuttering, normal disfluency, excessive normal disfluency, or some form of disfluency unique to the school-age population of children with autism.
AimsThis paper explores the nature of disfluencies in school-aged children with autism in comparison with matched children who stutter and controls. It explores stuttering-like disfluencies, non-stuttering-like disfluencies and word-final disfluencies.
Methods & ProceduresThis study compared disfluency patterns in 11 school-aged children with Asperger's syndrome (AS), 11 matched children who stutter (CWS), and 11 matched children with no diagnosis (ND). Analyses were based on speech samples collected during an expository discourse task.
Outcomes & ResultsResults reveal statistically significant differences between children with AS and CWS and between children with AS and those with ND for the percentage of words containing stuttering-like disfluencies. In the AS group, four out of 11 (36%) met the common diagnostic criteria for a fluency disorder. Disfluencies in the AS group differed qualitatively and quantitatively from the CWS, and included a larger distribution of word-final disfluencies.
Conclusions & ImplicationsThis study provides initial data regarding patterns of disfluency in school-aged children with AS that, with careful consideration and the cautious application of all findings, can assist therapists in making more evidence-based diagnostic decisions. Findings offer evidence that when working with children with AS, disfluencies both similar and dissimilar to those of CWS may be identified in at least a subset of those with AS. Therefore, children with AS should be screened for fluency disorders during their initial evaluation and treated if it is determined that the fluency disorder negatively impacts the effectiveness of communication.
C1 [Scott, Kathleen Scaler] Misericordia Univ, Dept Speech Language Pathol, Dallas, PA 18612 USA.
[Scott, Kathleen Scaler; Tetnowski, John A.; Flaitz, James R.] Univ Louisiana Lafayette, Dept Communicat Disorders, Lafayette, LA 70504 USA.
[Yaruss, J. Scott] Univ Pittsburgh, Sch Hlth & Rehabil Sci, Pittsburgh, PA USA.
RP Scott, KS (reprint author), Misericordia Univ, Dept Speech Language Pathol, 301 Lake St, Dallas, PA 18612 USA.
EM kscott@misericordia.edu
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NR 80
TC 1
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 JAN
PY 2014
VL 49
IS 1
BP 75
EP 89
DI 10.1111/1460-6984.12048
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 275XD
UT WOS:000328711800006
ER
PT J
AU Mayes, SD
Gordon, M
Calhoun, SL
Bixler, EO
AF Mayes, Susan D.
Gordon, Michael
Calhoun, Susan L.
Bixler, Edward O.
TI Long-Term Temporal Stability of Measured Inattention and Impulsivity in
Typical and Referred Children
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE attention; Gordon Diagnostic System norms; ADHD; autism
ID DEFICIT HYPERACTIVITY DISORDER; GORDON DIAGNOSTIC SYSTEM;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; OPPOSITIONAL-DEFIANT DISORDER;
FRONTAL-LOBE FUNCTIONS; IV ASPERGERS-DISORDER; PROCESSING SPEED;
WISC-III; RISK-FACTORS; ADHD
AB Objective: This study investigates the stability of measured inattention and impulsivity in children. Method: The Gordon Diagnostic System (GDS) assesses inattention and impulsivity and has been administered in the same manner since its 1983 publication. GDS scores were compared between the 1983 standardization sample and a recent typical sample of 445 children, 562 children with ADHD-Combined (ADHD-C) type, 235 with ADHD-Inattentive (ADHD-I) type, and 231 with autism. Results: Typical children earned a GDS composite standard score of 100, consistent with the normal mean of 100 in the 1983 standardization sample. Means for children with ADHD-C, ADHD-I, and autism were 70, 78, and 76, respectively, approximately two standard deviations below the normal mean. Conclusion: As measured by the GDS, children are no more or less inattentive and impulsive today than in 1983, suggesting that inattention and impulsivity are stable neurobiological traits largely unaffected by cultural, educational, and environmental factors.
C1 [Mayes, Susan D.; Calhoun, Susan L.; Bixler, Edward O.] Penn State Coll Med, Dept Psychiat, Hershey, PA 17033 USA.
[Gordon, Michael] SUNY Upstate Med Univ, Attent Deficit Hyperact Disorders Program, Syracuse, NY 13210 USA.
RP Mayes, SD (reprint author), Penn State Coll Med, 500 Univ Dr, Hershey, PA 17033 USA.
EM smayes@psu.edu
FU National Institutes of Health [RO1 HL063772, MO1 RR010732, CO6 RR016499]
FX The author(s) disclosed receipt of the following financial support for
the research, authorship, and/or publication of this article: This study
was supported by National Institutes of Health grants RO1 HL063772, MO1
RR010732, and CO6 RR016499.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 43
TC 0
Z9 0
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 JAN
PY 2014
VL 18
IS 1
SI SI
BP 23
EP 30
DI 10.1177/1087054712448961
PG 8
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA 277PI
UT WOS:000328831300003
PM 22689649
ER
PT J
AU Adviento, B
Corbin, IL
Widjaja, F
Desachy, G
Enrique, N
Rosser, T
Risi, S
Marco, EJ
Hendren, RL
Bearden, CE
Rauen, KA
Weiss, LA
AF Adviento, Brigid
Corbin, Iris L.
Widjaja, Felicia
Desachy, Guillaume
Enrique, Nicole
Rosser, Tena
Risi, Susan
Marco, Elysa J.
Hendren, Robert L.
Bearden, Carrie E.
Rauen, Katherine A.
Weiss, Lauren A.
TI Autism traits in the RASopathies
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Autism; Neurofibromatosis Type 1; Costello Syndrome; Noonan Syndrome;
Cranio-Facio-Cutaneous Syndrome
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE;
DE-NOVO MUTATIONS; SOCIAL RESPONSIVENESS SCALE; FACIO-CUTANEOUS
SYNDROME; SPECTRUM DISORDERS; NEUROFIBROMATOSIS TYPE-1;
COSTELLO-SYNDROME; NOONAN SYNDROME; COGNITIVE DEFICITS
AB Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs.
Methods We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling controls and subjects with idiopathic ASDs using the qualitative Social Communication Questionnaire (SCQ) and the quantitative Social Responsiveness Scale (SRS).
Results Each of the four major RASopathies showed evidence for increased qualitative and quantitative autism traits compared with sibling controls. Further, each RASopathy exhibited a distinct distribution of quantitative social impairment. Levels of social responsiveness show some evidence of correlation between sibling pairs, and autism-like impairment showed a male bias similar to idiopathic ASDs.
Conclusions Higher prevalence and severity of autism traits in RASopathies compared to unaffected siblings suggests that dysregulation of Ras/MAPK signalling during development may be implicated in ASD risk. Evidence for sex bias and potential sibling correlation suggests that autism traits in the RASopathies share characteristics with autism traits in the general population and clinical ASD population and can shed light on idiopathic ASDs.
C1 [Adviento, Brigid; Corbin, Iris L.; Widjaja, Felicia; Desachy, Guillaume; Risi, Susan; Hendren, Robert L.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
[Adviento, Brigid; Corbin, Iris L.; Desachy, Guillaume; Rauen, Katherine A.; Weiss, Lauren A.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Corbin, Iris L.] Sutter Pacific Med Fdn, Prenatal Diag Ctr, San Francisco, CA USA.
[Enrique, Nicole; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Rosser, Tena] Childrens Hosp Los Angeles, Dept Neurol, Los Angeles, CA USA.
[Marco, Elysa J.] Univ Calif San Francisco, Dept Child Neurol, San Francisco, CA 94143 USA.
[Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA.
[Rauen, Katherine A.] Univ Calif San Francisco, Dept Pediat Genet, San Francisco, CA 94143 USA.
RP Weiss, LA (reprint author), Univ Calif San Francisco, Langley Porter Neuropsychiat Inst, Dept Psychiat,Nina Ireland Lab, Inst Human Genet,Ctr Neurobiol & Psychiat, Box F-0984,401 Parnassus Ave,Rm A101, San Francisco, CA 94143 USA.
EM Lauren.Weiss@ucsf.edu
FU NIH New Innovator [1DP2OD007449]; SFARI Explorer [257754]; IHG
Exploratory Grant; Staglin Family/IMHRO Assistant Professorship; NIMH
[R34 MH089299-01]; Carol Moss Spivak Foundation
FX The work was supported by the NIH New Innovator 1DP2OD007449 (LAW),
SFARI Explorer #257754 (LAW), an IHG Exploratory Grant (LAW), a Staglin
Family/IMHRO Assistant Professorship (LAW), NIMH R34 MH089299-01 (CEB)
and the Carol Moss Spivak Foundation (CEB).
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NR 78
TC 8
Z9 8
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 JAN
PY 2014
VL 51
IS 1
BP 10
EP 20
DI 10.1136/jmedgenet-2013-101951
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA 276IY
UT WOS:000328745200002
PM 24101678
ER
PT J
AU Tian, Y
Yabuki, Y
Moriguchi, S
Fukunaga, K
Mao, PJ
Hong, LJ
Lu, YM
Wang, R
Ahmed, MM
Liao, MH
Huang, JY
Zhang, RT
Zhou, TY
Long, S
Han, F
AF Tian, Yun
Yabuki, Yasushi
Moriguchi, Shigeki
Fukunaga, Kohji
Mao, Pei-Jiang
Hong, Ling-Juan
Lu, Ying-Mei
Wang, Rui
Ahmed, Muhammad Masood
Liao, Mei-Hua
Huang, Ji-Yun
Zhang, Rui-Ting
Zhou, Tian-Yi
Long, Sen
Han, Feng
TI Melatonin reverses the decreases in hippocampal protein serine/threonine
kinases observed in an animal model of autism
SO JOURNAL OF PINEAL RESEARCH
LA English
DT Article
DE autism; CaMKII; hippocampus; melatonin; phosphorylation; valproic acid
ID LONG-TERM POTENTIATION; MILD COGNITIVE IMPAIRMENT; SYNAPTIC PLASTICITY;
SPECTRUM DISORDERS; RAT HIPPOCAMPUS; ANTIEPILEPTIC DRUGS; NITROSATIVE
STRESS; ENDOTHELIAL-CELLS; SODIUM VALPROATE; MOUSE MODEL
AB Lower global cognitive function scores are a common symptom of autism spectrum disorders (ASDs). This study investigates the effects of melatonin on hippocampal serine/threonine kinase signaling in an experimental ASD model. We found that chronic melatonin (1.0 or 5.0mg/kg/day, 28days) treatment significantly rescued valproic acid (VPA, 600mg/kg)-induced decreases in CaMKII (Thr286), NMDAR1 (Ser896), and PKA (Thr197) phosphorylation in the hippocampus without affecting total protein levels. Compared with control rats, the immunostaining of pyramidal neurons in the hippocampus revealed a decrease in immunolabeling intensity for phospho-CaMKII (Thr286) in the hippocampus of VPA-treated rats, which was ameliorated by chronic melatonin treatment. Consistent with the elevation of CaMKII/PKA/PKC phosphorylation observed in melatonin-treated rat, long-term potentiation (LTP) was enhanced after chronic melatonin (5.0mg/kg) treatment, as reflected by extracellular field potential slopes that increased from 56 to 60min (133.4 +/- 3.9% of the baseline, P<0.01 versus VPA-treated rats) following high-frequency stimulation (HFS) in hippocampal slices. Accordingly, melatonin treatment also significantly improved social behavioral deficits at postnatal day 50 in VPA-treated rats. Taken together, the increased phosphorylation of CaMKII/PKA/PKC signaling might contribute to the beneficial effects of melatonin on autism symptoms.
C1 [Tian, Yun; Mao, Pei-Jiang; Hong, Ling-Juan; Wang, Rui; Ahmed, Muhammad Masood; Liao, Mei-Hua; Huang, Ji-Yun; Zhang, Rui-Ting; Zhou, Tian-Yi; Long, Sen; Han, Feng] Zhejiang Univ, Inst Pharmacol Toxicol & Biochem Pharmaceut, Hangzhou 310058, Zhejiang, Peoples R China.
[Yabuki, Yasushi; Moriguchi, Shigeki; Fukunaga, Kohji] Tohoku Univ, Dept Pharmacol, Grad Sch Pharmaceut Sci, Sendai, Miyagi 980, Japan.
[Mao, Pei-Jiang] Zhejiang Res Inst Tradit Chinese Med, Hangzhou, Zhejiang, Peoples R China.
[Lu, Ying-Mei] Zhejiang Univ, Sch Med, City Coll, Hangzhou 310003, Zhejiang, Peoples R China.
[Wang, Rui] Ningxia Med Univ, Dept Pharmacol, Yinchuan, Peoples R China.
[Long, Sen] Hangzhou 7 Peoples Hosp, Dept Pharm, Hangzhou, Zhejiang, Peoples R China.
RP Han, F (reprint author), Zhejiang Univ, Inst Pharmacol Toxicol & Biochem Pharmaceut, Hangzhou 310058, Zhejiang, Peoples R China.
EM changhuahan@zju.edu.cn
FU National Natural Science Foundations of China [91232705, 81202533];
Qianjiang Talents Program of Zhejiang Province, China [2012R10036]
FX This work was partially supported by National Natural Science
Foundations of China (91232705; 81202533); Qianjiang Talents Program of
Zhejiang Province, China (2012R10036).
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NR 62
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0742-3098
EI 1600-079X
J9 J PINEAL RES
JI J. Pineal Res.
PD JAN
PY 2014
VL 56
IS 1
BP 1
EP 11
DI 10.1111/jpi.12081
PG 11
WC Endocrinology & Metabolism; Neurosciences; Physiology
SC Endocrinology & Metabolism; Neurosciences & Neurology; Physiology
GA 266DH
UT WOS:000328002100001
PM 23952810
ER
PT J
AU Schmidt, JD
Drasgow, E
Halle, JW
Martin, CA
Bliss, SA
AF Schmidt, Jonathan D.
Drasgow, Erik
Halle, James W.
Martin, Christian A.
Bliss, Sacha A.
TI Discrete-Trial Functional Analysis and Functional Communication Training
With Three Individuals With Autism and Severe Problem Behavior
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE functional assessment; children with autism; PDD; challenging
behavior(s); functional communication training
ID SELF-INJURIOUS-BEHAVIOR; RESPONSE EFFICIENCY; SEVERE DISABILITIES;
INTERVENTION; THERAPISTS; CHILDREN
AB Discrete-trial functional analysis (DTFA) is an experimental method for determining the variables maintaining problem behavior in the context of natural routines. Functional communication training (FCT) is an effective method for replacing problem behavior, once identified, with a functionally equivalent response. We implemented these procedures in the natural environment for three individuals with developmental disabilities who resided in a residential treatment facility. Study 1 results show that the DTFA procedures experimentally validated the function of each participant's problem behavior after completing a functional assessment using informal and descriptive methods. Study 2 results reveal that FCT was successful at replacing problem behavior with an alternative communication behavior that served the same function. A unique feature of this study was the use of behavioral indication (i.e., observable behavior signaling momentary motivation) as a cue for determining when to deliver the FCT intervention.
C1 [Schmidt, Jonathan D.] Kennedy Krieger Inst, Baltimore, MD 21205 USA.
[Drasgow, Erik] Univ S Carolina, Columbia, SC 29208 USA.
[Halle, James W.] Univ Illinois, Urbana, IL 61801 USA.
[Martin, Christian A.] Atlas Supports, Columbia, SC USA.
[Bliss, Sacha A.] Univ Tennessee, Ctr Hlth Sci, Memphis, TN 38163 USA.
RP Schmidt, JD (reprint author), Kennedy Krieger Inst, 707 N Broadway, Baltimore, MD 21205 USA.
EM schmidtj@kennedykrieger.org
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NR 32
TC 1
Z9 1
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 JAN
PY 2014
VL 16
IS 1
BP 44
EP 55
DI 10.1177/1098300712470519
PG 12
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600005
ER
PT J
AU Greenwald, AE
Williams, WL
Seniuk, HA
AF Greenwald, Ashley E.
Williams, W. Larry
Seniuk, Holly A.
TI Decreasing Supermarket Tantrums by Increasing Shopping Tasks: Advantages
of Pre-Teaching
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE children with autism; PDD; challenging behavior(s); community-based
intervention(s)
ID BEHAVIOR; COMMUNITY
AB A brief training package consisting of pre-teaching of appropriate grocery item-gathering skills and reinforcement for appropriate behavior was used to teach a child diagnosed with autism to remain in a store and participate in shopping without exhibiting tantrums. The training package began with teaching the necessary component skills and expectations in the participant's home, and these skills were then established at a local supermarket.
C1 [Greenwald, Ashley E.; Williams, W. Larry; Seniuk, Holly A.] Univ Nevada, Reno, NV 89557 USA.
RP Greenwald, AE (reprint author), Univ Nevada, Dept Psychol 296, 1664 North Virginia St, Reno, NV 89557 USA.
EM greenwald.ashley@gmail.com
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NR 8
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 JAN
PY 2014
VL 16
IS 1
BP 56
EP 59
DI 10.1177/1098300713482976
PG 4
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600006
ER
PT J
AU Buckley, TW
Ente, AP
Ruef, MB
AF Buckley, Trevor W.
Ente, Angela P.
Ruef, Michael B.
TI Improving a Family's Overall Quality of Life Through Parent Training in
Pivotal Response Treatment
SO JOURNAL OF POSITIVE BEHAVIOR INTERVENTIONS
LA English
DT Article
DE autism; PRT; quality of life; parent training
ID AUTISM SPECTRUM DISORDER; CHILDREN; EDUCATION; PROGRAM; STRESS
AB As the diagnoses of autism in young children continually increase, the need for families to have access to research-based treatment models that are effective and efficient has become clear. Current research demonstrates the demand for parent-delivered behavioral interventions. The aim of this single-case study, conducted as part of an integrated Masters in Education/Special Education Credential Program, was to examine the relationship between one parent trained in pivotal response treatment (PRT), her implementation of PRT techniques, and the correlated gains of behavioral compliance in her 6-year-old boy with high-functioning autism (HFA). Visual analysis of collected data as well as calculation of nonoverlapping data points suggest that a parent, when effectively trained, can utilize PRT to increase the rate of behavioral compliance of his or her own children.
C1 [Buckley, Trevor W.] Realizing Childrens Strengths RCS Behav Consultin, Boston, MA USA.
[Ente, Angela P.] Koegel Autism Consultants, Santa Barbara, CA USA.
[Ente, Angela P.] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
[Ruef, Michael B.] Calif Polytech State Univ San Luis Obispo, San Luis Obispo, CA 93407 USA.
RP Ente, AP (reprint author), 994 Pellham Dr, Lompoc, CA 93436 USA.
EM angelaente@yahoo.com
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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 1098-3007
EI 1538-4772
J9 J POSIT BEHAV INTERV
JI J. Posit. Behav. Interv.
PD JAN
PY 2014
VL 16
IS 1
BP 60
EP 63
DI 10.1177/1098300713483177
PG 4
WC Psychology, Clinical; Education, Special
SC Psychology; Education & Educational Research
GA 273YG
UT WOS:000328571600007
ER
PT J
AU Cederlof, M
Gotby, AO
Larsson, H
Serlachius, E
Boman, M
Langstrom, N
Landen, M
Lichtenstein, P
AF Cederlof, Martin
Gotby, Agnes Ohlsson
Larsson, Henrik
Serlachius, Eva
Boman, Marcus
Langstrom, Niklas
Landen, Mikael
Lichtenstein, Paul
TI Klinefelter syndrome and risk of psychosis, autism and ADHD
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Klinefelter syndrome; Schizophrenia; Bipolar disorder; Autism spectrum
disorder; ADHD; Epidemiology
ID HOSPITAL DISCHARGE DIAGNOSES; SCHIZOPHRENIA; REGISTER; DISORDER
AB Background: Schizophrenia, bipolar disorder, autism spectrum disorders and ADHD might be over-represented in Klinefelter syndrome, but previous investigations have yielded inconclusive results.
Methods: We compared a national sample of 860 Klinefelter patients in Sweden with 86 000 matched population controls. To assess the risks of schizophrenia, bipolar disorder, autism spectrum disorder and ADHD in Klinefelter patients, we estimated odds ratios and 95% confidence intervals using conditional logistic regressions.
Results: Klinefelter patients had almost four times higher risks of schizophrenia, odds ratio (OR) = 3.6, 95% confidence interval (CI) 2.0-6.7 and bipolar disorder (OR = 3.8, CI 1.8-7.6) and about six times higher risk of autism spectrum disorder (OR = 6.2, Cl 4.0-9.4) and ADHD (OR = 5.6, CI 4.0-7.8).
Conclusions: The risk of psychosis, autism and ADHD is increased in Klinefelter patients. These findings indicate an X chromosome-related factor in the etiology of the studied psychiatric disorders, and may also have implications for treatment of patients with Klinefelter syndrome. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Cederlof, Martin; Gotby, Agnes Ohlsson; Larsson, Henrik; Boman, Marcus; Langstrom, Niklas; Landen, Mikael; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Langstrom, Niklas] Swedish Prison & Probat Serv, R&D Unit, Norrkoping, Sweden.
[Landen, Mikael] Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden.
[Serlachius, Eva] Karolinska Inst, Ctr Psychiat Res & Educ, Dept Clin Neurosci, SE-17177 Stockholm, Sweden.
RP Cederlof, M (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, SE-17177 Stockholm, Sweden.
EM Martin.Cederlof@ki.se
CR Bojesen A, 2006, J CLIN ENDOCR METAB, V91, P1254, DOI 10.1210/jc.2005-0697
Bojesen A, 2003, J CLIN ENDOCR METAB, V88, P622, DOI 10.1210/jc.2002-021491
Bruining H, 2009, PEDIATRICS, V123, P865
DELISI LE, 1994, SCHIZOPHRENIA BULL, V20, P495
Ludvigsson JF, 2011, BMC PUBLIC HEALTH, V11, DOI 10.1186/1471-2458-11-450
Lundh A, 2012, ACTA PSYCHIAT SCANDI
Mors O, 2001, PSYCHOL MED, V31, P425
Sellgren C, 2011, ACTA PSYCHIAT SCAND, V124, P447, DOI 10.1111/j.1600-0447.2011.01747.x
Van Rijn S, 2006, BRIT J PSYCHIAT, V189, P459, DOI 10.1192/bjp.bp.105.008961
NR 9
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3956
EI 1879-1379
J9 J PSYCHIATR RES
JI J. Psychiatr. Res.
PD JAN
PY 2014
VL 48
IS 1
BP 128
EP 130
DI 10.1016/j.jpsychires.2013.10.001
PG 3
WC Psychiatry
SC Psychiatry
GA 275YY
UT WOS:000328716500017
PM 24139812
ER
PT J
AU Michielsen, LA
van der Heijden, FMMA
Janssen, PKC
Kuijpers, HJH
AF Michielsen, Laura A.
van der Heijden, Frank M. M. A.
Janssen, Paddy K. C.
Kuijpers, Harold J. H.
TI Effects of maternal psychotropic drug dosage on birth outcomes
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE pregnancy; psychotropic medication; dosage; birth outcomes
ID REUPTAKE INHIBITOR ANTIDEPRESSANTS; AUTISM SPECTRUM DISORDERS; PRENATAL
EXPOSURE; NEONATAL OUTCOMES; IN-UTERO; DEPRESSION; PREGNANCY; RISK;
GROWTH
AB Background: The aim of this retrospective study was to explore the relationship between psychotropic medication dosage and birth outcomes.
Methods: A total of 136 women were enrolled, who had an active mental disorder, were taking medication to prevent a relapse, or had a history of postpartum depression or psychosis. Medication use was evaluated for the three trimesters and during labor. Based on the defined daily dose, medication use was classified into three groups. Primary outcome variables included the infant gestational age at birth, birth weight, and Apgar scores at one and 5 minutes.
Results: Our study showed a significantly higher incidence of Apgar score <= 7 at 5 minutes in women taking psychotropic drugs as compared with the group taking no medication, respectively (16.3% versus 0.0%, P=0.01). There was no significant difference between the two groups in Apgar score at one minute or in gestational age and birth weight. The results showed no significant differences in gestational age, birth weight, or Apgar scores for a low-intermediate or high dose of a selective serotonin reuptake inhibitor and for a low or intermediate dose of an antipsychotic.
Conclusion: This study does not indicate a relationship between doses of selective serotonin reuptake inhibitors and antipsychotics and adverse neonatal outcomes.
C1 [Michielsen, Laura A.; van der Heijden, Frank M. M. A.; Kuijpers, Harold J. H.] Vincent van Gogh Inst Psychiat, Venlo, Netherlands.
[Janssen, Paddy K. C.] VieCuri Med Ctr, Dept Pharm, Venlo, Netherlands.
RP Kuijpers, HJH (reprint author), Twee Steden Ziekenhuis, Dr Deelenlaan 5, NL-5042 AD Tilburg, Netherlands.
EM h.kuijpers@tsz.nl
CR ATC/DDD index, 2012, ATC DDD IND 2012
Berard A, 2007, BIRTH DEFECTS RES B, V80, P18, DOI 10.1002/bdrb.20099
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de Vries NKS, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0064654
Dutch Society of Obstetrics and Gynaecology, SSRI GEBR ZWANG TIJD
Ehrenstein V, 2009, BMC PREGNANCY CHILDB, V9, DOI 10.1186/1471-2393-9-14
El Marroun H, 2012, ARCH GEN PSYCHIAT, V69, P706, DOI 10.1001/archgenpsychiatry.2011.2333
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Gentile S, 2011, J AFFECT DISORDERS, V128, P1, DOI 10.1016/j.jad.2010.02.125
Hayes RM, 2012, AM J OBSTET GYNECOL, V207
Lewis AJ, 2010, AUST NZ J PSYCHIAT, V44, P482, DOI 10.3109/00048670903559593
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Oberlander TF, 2008, BRIT J PSYCHIAT, V192, P338, DOI 10.1192/bjp.bp.107.037101
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Statistics Netherlands, ANN REP INT 2008
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Waelput AJM, HOE VAAK KOMT VROEGG
Wisner KL, 2013, AM J PSYCHIAT, V170, P485, DOI 10.1176/appi.ajp.2012.11121873
NR 28
TC 1
Z9 1
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1176-6328
EI 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 13
EP 18
DI 10.2147/NDT.S53430
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 272QR
UT WOS:000328475800001
PM 24376355
ER
PT J
AU Migliore, A
Butterworth, J
Zalewska, A
AF Migliore, Alberto
Butterworth, John
Zalewska, Agnieszka
TI Trends in Vocational Rehabilitation Services and Outcomes of Youth With
Autism: 2006-2010
SO REHABILITATION COUNSELING BULLETIN
LA English
DT Article
DE employment; career; vocational; process and outcome; rehabilitation
counseling; transition
ID SPECTRUM DISORDERS; EMPLOYMENT OUTCOMES; ADULTS; DISABILITIES;
INDIVIDUALS; TRANSITION; PROGRAM
AB As the number of adults with a diagnosis of autism continues to grow, attention is drawn to whether they receive adequate services and achieve satisfactory employment outcomes, compared with their peers with other disabilities. After examining data from the U.S. state vocational rehabilitation programs from the years 2006-2010, we found that youth with autism received similar levels of services and reported similar employment outcomes compared with their peers with other disabilities. However, these outcomes were modest, declining, and substantially different across states, regardless of the types of disabilities. We recommend continuous monitoring of services and outcomes of people with autism and other disabilities as a means to promote their economic self-sufficiency and inclusion in society.
C1 [Migliore, Alberto; Butterworth, John; Zalewska, Agnieszka] Univ Massachusetts, Boston, MA 02116 USA.
RP Migliore, A (reprint author), Univ Massachusetts, Inst Community Inclus, 20 Pk Plaza,Suite 1300, Boston, MA 02116 USA.
EM amiglior@gmail.com
CR Attwood T., 2003, COMPLETE GUIDE ASPER
Baio J., 2012, SURVEILLANCE SUMMARI, V61, P1
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NR 43
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0034-3552
EI 1538-4853
J9 REHABIL COUNS BULL
JI Rehabil. Couns. Bull.
PD JAN
PY 2014
VL 57
IS 2
BP 80
EP 89
DI 10.1177/0034355213493930
PG 10
WC Rehabilitation
SC Rehabilitation
GA 271BA
UT WOS:000328364000002
ER
PT J
AU Schlooz, WAJM
Hulstijn, W
AF Schlooz, Wim A. J. M.
Hulstijn, Wouter
TI Boys with autism spectrum disorders show superior performance on the
adult Embedded Figures Test
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; PDD-NOS; Embedded Figures Test; Central coherence; Cognitive
development
ID PERVASIVE DEVELOPMENTAL DISORDER; VISUAL-SEARCH; ENHANCED
DISCRIMINATION; CHILDREN; TASK; IV
AB Weak central coherence is frequently studied using the Embedded Figures Test (EFT) yielding mixed and ambiguous results. In this study, the performance of 36 boys (9-14 years) with Autism Spectrum Disorders (ASD) is compared with that of 46 typical peers using both the children's and the adult version of the EFT. Only in the adult version did the ASD group outperform the controls in terms of accuracy. Corrected for age and pIQ a subgroup of boys with Autistic Disorder (AD) showed superior perceptual processing capacities, while the performance of boys with PDD-NOS and Asperger Syndrome was in between that of those with AD and the controls. The findings strongly suggest that children and adolescents with ASD will only show superior results on visual-perceptual tests if the task complexity and thus their sensitivity is sufficiently high to challenge typically developing age-matched peers. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Schlooz, Wim A. J. M.] Reinier van Arkelgrp, Ctr Child & Adolescent Psychiat Herlaarhof, NL-5261 LR Vught, Netherlands.
[Hulstijn, Wouter] Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands.
RP Schlooz, WAJM (reprint author), Reinier van Arkelgrp, Ctr Child & Adolescent Psychiat Herlaarhof, Parklaan 21,POB 10150, NL-5261 LR Vught, Netherlands.
EM w.schlooz@RvAgroep.nl; W.Hulstijn@donders.ru.nl
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NR 25
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 JAN
PY 2014
VL 8
IS 1
BP 1
EP 7
DI 10.1016/j.rasd.2013.10.004
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400001
ER
PT J
AU Cheldavi, H
Shakerian, S
Boshehri, SNS
Zarghami, M
AF Cheldavi, Hakim
Shakerian, Saeid
Boshehri, Seyedeh Nahid Shetab
Zarghami, Mehdi
TI The effects of balance training intervention on postural control of
children with autism spectrum disorder: Role of sensory information
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Postural control; Compliant surface; Sensory; Balance training
ID HIGH-FUNCTIONING AUTISM; CHALLENGING BEHAVIORS; ASPERGERS-DISORDER;
ANKLE INSTABILITY; BASAL GANGLIA; MOTOR; MOVEMENT; IMPAIRMENT;
CEREBELLUM; STABILITY
AB Purpose: The aim of this study was to investigate the effect of balance training intervention in children with autism spectrum disorder (ASD), and to explore the relative role of the sensory systems in such kids.
Methodology: We recruited 20 school children (IQ> 80) diagnosed with ASD, and categorized them in two groups; a 10-member training group (average age: 7.70 +/- 1.05) and a 10-member control group (average age: 7.90 1.10). Thus, following a six-week-long balance training intervention in four conditions of bipedal upright stance [compliant (Foam) vs. non-compliant (Hard) with eyes-open (EO) vs. eyes-closed (EC)), we examined measures such as mean velocity (V), anteroposterior (AP) and mediolateral (ML) axis displacement, and compared the results to those calculated prior to the initiation of the intervention using MANOVA test.
Results: This study showed that the balance training program efficiently improved the postural control in ASD suffering children, and that removing the visual and plantar proprioceptive information led to increased sway in both groups. The training group performed significantly better than the control group in all conditions.
Conclusion: It is thus concludable that children suffering from ASD can benefit from such balance training programs to improve their balance and postural control. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Cheldavi, Hakim; Shakerian, Saeid; Boshehri, Seyedeh Nahid Shetab; Zarghami, Mehdi] Shahid Chamran Univ Ahvaz, Fac Phys Educ & Sport Sci, Sport Psychol Dept, Ahwaz 7573114838, Iran.
RP Cheldavi, H (reprint author), Shahid Chamran Univ Ahvaz, Fac Phys Educ & Sport Sci, Sport Psychol Dept, Ahwaz 7573114838, Iran.
EM h.chaldavi_24@yahoo.com
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Pan CY, 2006, J AUTISM DEV DISORD, V36, P597, DOI 10.1007/s10803-006-0101-6
Rinehart NJ, 2006, J AUTISM DEV DISORD, V36, P757, DOI 10.1007/s10803-006-0118-x
Roerdink M., 2010, HUMAN MOVEMENT SCI, P005
Shumway-Cook A, 2003, DEV MED CHILD NEUROL, V45, P591, DOI 10.1017/S0012162203001099
Stins J. F., 2009, J GERONTOL, V46, pB238
Takakusaki K, 2004, NEUROSCI RES, V50, P137, DOI 10.1016/j.neures.2004.06.015
Todd J, 2009, J MOTOR BEHAV, V41, P419, DOI 10.3200/35-08-042
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Wang Wai-Yi, 1997, Kaohsiung Journal of Medical Sciences, V13, P487
NR 41
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 JAN
PY 2014
VL 8
IS 1
BP 8
EP 14
DI 10.1016/j.rasd.2013.09.016
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400002
ER
PT J
AU Inoue, K
Wada, M
Natsuyama, T
Karnitani, S
Miyaoka, H
AF Inoue, Katsuo
Wada, Mariko
Natsuyama, Takashi
Karnitani, Syunsuke
Miyaoka, Hitoshi
TI The feature of high reading ability in high-functioning pervasive
developmental disorders of childhood: Analysis of the K-ABC and WISC-3rd
assessment
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE HFPDD; Reading ability; K-ABC; WISC-3rd
ID AUTISM SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; PRAGMATIC LANGUAGE;
CHILDREN; MIND; COMPREHENSION; HYPERLEXIA; EXPLORATION; DEFICITS
AB We aimed to examine whether children with high-functioning pervasive developmental disorders (HFPDD) have higher reading ability and how their reading ability relates to other cognitive components. Our participants were a HFPDD group (N = 35) and a non-PDD clinical group (N=25). We assessed reading ability with the "Reading/Decoding" and "Reading/Understanding" subtests of the Kaufman Assessment Battery for Children (KABC) Japanese version. To investigate the relationship with other cognitive components, we calculated correlation coefficients between the each subtest and the other l(-ABC and WISC-3rd subtests scores. Analysis with a general linear model revealed significantly higher standard scores on the two subtests of the HFPDD group than the non-PDD. Pearson's correlation coefficients showed different patterns between the two groups (the two subtests significantly related to "Word order" and, "Mazes" in the HFPDD group). These results suggest that HFPDD children have higher reading ability, but read words like symbols without adapting for inferring and comprehending contexts through semantic application of the words. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Inoue, Katsuo; Karnitani, Syunsuke] Kitasato Univ, Sch Med, Dept Psychiat, Div Integrated Psychosocial Care Community & Chil, Sagamihara, Kanagawa 2520374, Japan.
[Wada, Mariko] Kitasato Univ Hosp, Dept Psychiat, Sangamihara, Kanagawa, Japan.
[Natsuyama, Takashi; Miyaoka, Hitoshi] Kitasato Univ, Sch Med, Dept Psychiat, Sagamihara, Kanagawa 2520374, Japan.
RP Inoue, K (reprint author), Kitasato Univ, Sch Med, Dept Psychiat,Div Integrated Psychosocial Care Co, Minami Ku, Kitasato 1-15-1, Sagamihara, Kanagawa 2520374, Japan.
EM k.inoue-saulharp@nifty.com
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT, P50
American Psychiatric Association, 2000, DIAGN STAT MAN MENT, P50
Azuma H., 1998, WECHSLER INTELLIGENC
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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 JAN
PY 2014
VL 8
IS 1
BP 25
EP 30
DI 10.1016/j.rasd.2013.10.005
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400004
ER
PT J
AU Segall, MJ
Campbell, JM
AF Segall, Matthew J.
Campbell, Jonathan M.
TI Factors influencing the educational placement of students with autism
spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Placement; Teacher attitudes
ID INCLUSIVE SETTINGS; SCHOOL PLACEMENT; CHILDREN; ATTITUDES; TEACHERS;
PREDICTORS; INTEGRATION; MAINSTREAM; CLASSROOMS
AB Due to legal and therapeutic reasons, children with autism spectrum disorders (ASD) are often educated in general education settings. As such, it is important to understand the variables that might affect a student's placement in inclusive education settings, simultaneously considering student variables (e.g., disability label) and teacher variables (e.g., knowledge of autism). Investigators experimentally manipulated the cognitive ability and diagnostic label of a student with ASD, characteristics and asked first grade teachers to provide their opinion on the student's educational placement. Results suggested that cognitive ability, but not label, significantly impacted decision making. The results hold important implications for special education decision making as well as training for educators. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Segall, Matthew J.] Emory Univ, Sch Med, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA.
[Campbell, Jonathan M.] Univ Kentucky, Dept Educ Sch & Counseling Psychol, Lexington, KY 40506 USA.
RP Segall, MJ (reprint author), Emory Univ, Sch Med, Dept Psychiat & Behav Sci, 1551 Shoup Court, Atlanta, GA 30322 USA.
EM mattsegall@emory.edu; jonathan.campbell@uky.edu
CR Ajzen I, 2001, ANNU REV PSYCHOL, V52, P27, DOI 10.1146/annurev.psych.52.1.27
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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 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD JAN
PY 2014
VL 8
IS 1
BP 31
EP 43
DI 10.1016/j.rasd.2013.10.006
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400005
ER
PT J
AU Doyle-Thomas, KAR
Card, D
Soorya, LV
Wang, AT
Fan, J
Anagnostou, E
AF Doyle-Thomas, Krissy A. R.
Card, Dallas
Soorya, Latha V.
Wang, A. Ting
Fan, Jin
Anagnostou, Evdokia
TI Metabolic mapping of deep brain structures and associations with
symptomatology in autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Magnetic resonance spectroscopy; Autism spectrum disorders; Deep gray
matter; Caudate nucleus; Putamen; Thalamus and social cognition
ID MAGNETIC-RESONANCE-SPECTROSCOPY; PROTON MR SPECTROSCOPY; BASAL GANGLIA;
ALZHEIMER-DISEASE; CLINICAL-APPLICATIONS; MULTIPLE-SCLEROSIS; STRIATUM;
TUMORS; DIAGNOSIS; NEUROPATHOLOGY
AB Structural neuroimaging studies in autism report atypical volume in deep brain structures which are related to symptomatology. Little is known about metabolic changes in these regions, and how they vary with age and sex, and/or relate to clinical behaviors. Using magnetic resonance spectroscopy we measured N-acetylaspartate, choline, creatine, myoinositol and glutamate in the caudate, putamen, and thalamus of 20 children with autism and 16 typically developing controls (7-18 years). Relative to controls, individuals with autism had elevated glutamate/creatine in the putamen. In addition, both groups showed age-related increases in glutamate in this region. Boys, relative to girls had increased choline/creatine in the thalamus. Lastly, there were correlations between glutamate, choline, and myoinositol in all three regions, and behavioral scores in the ASD group. These findings suggest changes in deep gray matter neurochemistry, which are sensitive to diagnosis, age and sex, and are associated with behavioral differences. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Doyle-Thomas, Krissy A. R.; Anagnostou, Evdokia] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Card, Dallas] Univ Toronto, Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Card, Dallas] Univ Toronto, Hosp Sick Children, Res Inst, Neurosci & Mental Hlth Program, Toronto, ON M5G 1X8, Canada.
[Soorya, Latha V.; Wang, A. Ting; Fan, Jin] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA.
[Soorya, Latha V.; Wang, A. Ting; Fan, Jin] Mt Sinai Sch Med, Dept Neurosci, New York, NY 10029 USA.
[Fan, Jin] CUNY Queens Coll, Dept Psychol, Queens, NY 11367 USA.
RP Anagnostou, E (reprint author), Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM kdoylethomas@hollandbloorview.ca; dallas.card@gmail.com;
latha.soorya@mssm.edu; ting.wang@mssm.edu; jin.fan@mssm.edu;
eanagnostou@hollandbloorview.ca
RI Fan, Jin/A-6716-2009
OI Fan, Jin/0000-0001-9630-8330
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NR 46
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 JAN
PY 2014
VL 8
IS 1
BP 44
EP 51
DI 10.1016/j.rasd.2013.10.003
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA 276AL
UT WOS:000328720400006
ER
PT J
AU Pozo, P
Sarria, E
AF Pozo, Pilar
Sarria, Encarnacion
TI A global model of stress in parents of individuals with autism spectrum
disorders (ASD)
SO ANALES DE PSICOLOGIA
LA English
DT Article
DE Autism spectrum disorders; double ABCX model; parental stress; behaviour
problems; severity of the disorder; sense of coherence; social support;
coping strategies
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILD SYMPTOM SEVERITY;
SCHOOL-AGE-CHILDREN; BEHAVIOR-PROBLEMS; PRESCHOOL-CHILDREN;
YOUNG-CHILDREN; DOWN-SYNDROME; COHERENCE SCALE; SOCIAL SUPPORT; FAMILY
STRESS
AB This research sought to analyse stress among mothers and fathers of individuals with autism spectrum disorders (ASD) to determine the relevant variables for its explanation and the possible gender differences. To examine parents' stress, we propose a multidimensional model based on the Double ABCX theoretical model. We argue that the result of stress depends on the following four interrelated factors: the characteristics of the individual with ASD (the severity of the disorder and behaviour problems), the social supports, the parents' perception of the situation (evaluated by sense of coherence) and the coping strategies. Fifty-nine sets of parents (59 mothers and 59 fathers) of individuals diagnosed with ASD participated in the study. The data were analysed using a path analysis through the LISREL 8.80 program. We obtained two empirical models of stress: one model for mothers and one for fathers. In both models, the severity of the disorder and the behaviour problems had a direct and positive effect on stress. The sense of coherence (SOC) and active avoidance coping strategies had a mediating role in models. Social support was relevant only for mothers. Finally, the results offer some guidelines for professionals working with families.
C1 [Pozo, Pilar; Sarria, Encarnacion] UNED, Madrid 28040, Spain.
RP Sarria, E (reprint author), UNED, Fac Psicol, C Juan del Rosal 10, Madrid 28040, Spain.
EM esarria@psi.uned.es
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NR 99
TC 0
Z9 0
PU UNIV MURCIA
PI MURCIA
PA SOC ESPANOLA HISTORIA AGRARIA, CAMPUS ESPINARDO, MURCIA, 30100, SPAIN
SN 0212-9728
EI 1695-2294
J9 AN PSICOL-SPAIN
JI An. Psicol.
PD JAN
PY 2014
VL 30
IS 1
BP 181
EP 192
DI 10.6018/analesps.30.1.140722
PG 12
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA 264YA
UT WOS:000327915700019
ER
PT J
AU Kotagiri, P
Chance, SA
Szele, FG
Esiri, MM
AF Kotagiri, Prasanti
Chance, Steven A.
Szele, Francis G.
Esiri, Margaret M.
TI Subventricular Zone Cytoarchitecture Changes in Autism
SO DEVELOPMENTAL NEUROBIOLOGY
LA English
DT Article
DE autism; subventricular zone; rostral migratory stream; adult
neurogenesis; septum
ID NEURAL STEM-CELLS; ADULT HUMAN BRAIN; OLFACTORY-BULB; HIPPOCAMPAL
NEUROGENESIS; CELLULAR COMPOSITION; STEM/PROGENITOR CELLS; NEURONAL
MIGRATION; MULTIPLE-SCLEROSIS; ALZHEIMERS-DISEASE; LATERAL VENTRICLE
AB Autism is thought to be a neurodevelopmental disorder with symptoms developing during neonatal neurogenesis in the subventricular zone (SVZ). Autism associated genes alter SVZ proliferation and cytoarchitecture, yet the response of the human SVZ in autism is unknown. Epilepsy drives neurogenesis in rodents, but it is unclear how epilepsy interacts with autism in SVZ responses. The striatal and septal SVZ derive from separate lineages in rodents and generate different interneuron types. Yet it is unclear if autism unevenly regulates the striatal and septal SVZ. The human SVZ was immunohistochemically examined post-mortem from individuals with autism (n = 11) and controls (n = 11). Autism showed a lower cell density in the septal, but not striatal, SVZ hypocellular gap only in the absence of epilepsy. There was a decline in septal hypocellular gap cells with age in autism, but no correlation with age in controls. In contrast, PCNA+ cell numbers increased only in autism with epilepsy both in the hypocellular gap and in the ependymal layer on the septal but not striatal side. Ependymal cells also became GFAP immunoreactive in autism irrespective of epilepsy co-morbidity; however, this only occurred on the striatal side. In examining these questions we also discovered a subset of ependymal, astrocyte ribbon and RMS cells which express PCNA and Ki67, PLP, and -tubulin. These results are the first example of a neuropsychiatric disease differentially affecting the septal and striatal SVZ. Altered cell density in the hypocellular gap and proliferation marker expression suggest individuals with autism may follow a different growth-trajectory. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol 74: 25-41, 2014
C1 [Kotagiri, Prasanti; Chance, Steven A.; Esiri, Margaret M.] Univ Oxford, Dept Neuropathol, Nuffield Dept Clin Neurosci, Oxford Univ Hosp, Oxford OX1 2JD, England.
[Kotagiri, Prasanti] Monash Univ, Dept Med Neurosci, Clayton, Vic 3800, Australia.
[Kotagiri, Prasanti] Royal Melbourne Hosp, Melbourne, Vic, Australia.
[Szele, Francis G.] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England.
RP Esiri, MM (reprint author), Univ Oxford, Dept Neuropathol, Nuffield Dept Clin Neurosci, Oxford Univ Hosp, Oxford OX1 2JD, England.
EM margaret.esiri@ndcn.ox.ac.uk
FU Oxford University; Monash University; National Institute of Health
Research via the Oxford Biomedical Centre; Autism Speaks; NIH; Simons
Foundation [NS-42253]
FX Contract grant sponsors: Oxford University and Monash
University.Contract grant sponsor: National Institute of Health Research
via the Oxford Biomedical Centre (to M.M.E.).Contract grant sponsor:
Autism Speaks (to S.A.C.).Contract grant sponsors: NIH (to F. G. S.) and
Simons Foundation; contract grant number: NS-42253.
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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 1932-8451
EI 1932-846X
J9 DEV NEUROBIOL
JI Dev. Neurobiol.
PD JAN
PY 2014
VL 74
IS 1
BP 25
EP 41
DI 10.1002/dneu.22127
PG 17
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA 265KA
UT WOS:000327948800003
PM 24002902
ER
PT J
AU Howlin, P
Savage, S
Moss, P
Tempier, A
Rutter, M
AF Howlin, Patricia
Savage, Sarah
Moss, Philippa
Tempier, Althea
Rutter, Michael
TI Cognitive and language skills in adults with autism: a 40-year follow-up
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorders; adulthood
ID PERVASIVE DEVELOPMENTAL DISORDERS; HIGH-FUNCTIONING AUTISM; SPECTRUM
DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; INFANTILE-AUTISM;
CHILDREN; REGRESSION; PROFILES; AGE
AB BackgroundIt is well established that very few individuals with autism spectrum disorders (ASD) and an IQ below 70 are able to live independently as adults. However, even amongst children with an IQ in the normal range, outcome is very variable. Childhood factors that predict later stability, improvement or decline in cognitive functioning remain uncertain and, in particular, very little is known about trajectories in later adulthood.
MethodChanges in cognitive and language ability from childhood to adulthood were assessed in 60 individuals with autism, all of whom had an IQ in the average range as children. Mean age in childhood=6years (range 2-13years); mean age in adulthood=44years (range 29-64years). Trajectories of change and factors related to current cognitive abilities were explored.
ResultsFor the majority of participants (N=45, 75%), who were testable both as children and adults, IQ remained very stable and language also improved over time. However, 15 individuals could not be assessed on standard tests as adults and their developmental level could be estimated only on the Vineland Adaptive Behavior Scales. Almost all these adults (apart from one who had suffered a major stroke) showed severe aggressive or self-injurious behaviours; none had ever developed language above a 3-year level, and seven had developed epilepsy.
ConclusionsFor most individuals with autism who had an IQ in the average range (i.e. 70) as children, childhood IQ proved a reliable predictor of cognitive functioning well into mid- to- later adulthood. However, a significant minority was no longer testable on standard tests as adults. Their current very low levels of functional ability were generally associated with severe behavioural disturbance and persisting and severe language impairment; 50% of these individuals had also developed epilepsy, pointing to the role of organic brain dysfunction. Implications for early intervention are discussed.
C1 [Howlin, Patricia; Savage, Sarah; Moss, Philippa; Tempier, Althea] Inst Psychiat, Dept Psychol, London, England.
[Howlin, Patricia] Univ Sydney, Fac Hlth Sci, Sydney, NSW 2006, Australia.
[Rutter, Michael] Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London, England.
RP Howlin, P (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol, Henry Wellcome Bldg,De Crespigny Pk, London SE5 8AF, England.
EM patricia.howlin@kcl.ac.uk
RI Howlin, Patricia/A-7622-2011
FU Nuffield Foundation
FX We thank the Nuffield Foundation for funding this research. We are most
grateful to the individuals with autism and their families or carers who
gave so generously of their time during the course of the study. We are
also grateful to the National Autistic Society, and in particular Mr.
Richard Mills, Research.
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Wilson S, 2003, DEV MED CHILD NEUROL, V45, P508
NR 69
TC 9
Z9 9
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 JAN
PY 2014
VL 55
IS 1
BP 49
EP 58
DI 10.1111/jcpp.12115
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400007
PM 23848399
ER
PT J
AU Skoglund, C
Chen, Q
D'Onofrio, BM
Lichtenstein, P
Larsson, H
AF Skoglund, Charlotte
Chen, Qi
D'Onofrio, Brian M.
Lichtenstein, Paul
Larsson, Henrik
TI Familial confounding of the association between maternal smoking during
pregnancy and ADHD in offspring
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Maternal smoking during pregnancy; attention-deficit/hyperactivity
disorder; confounding; sibling comparisons
ID DEFICIT HYPERACTIVITY DISORDER; CIGARETTE-SMOKING; RISK-FACTORS;
TELEPHONE INTERVIEW; PATERNAL SMOKING; CHILD OUTCOMES; SUBSTANCE USE;
AUTISM-TICS; A-TAC; SYMPTOMS
AB BackgroundMaternal Smoking During Pregnancy (SDP) has consistently been associated with increased risk of attention-deficit/hyperactivity disorder (ADHD) in offspring, but recent studies indicate that this association might be due to unmeasured familial confounding.
MethodsA total of 813,030 individuals born in Sweden between 1992 and 2000 were included in this nationwide population-based cohort study. Data on maternal SDP and ADHD diagnosis were obtained from national registers and patients were followed up from the age of 3 to the end of 2009. Hazard Ratios (HRs) were estimated using stratified Cox regression models. Cousin and sibling data were used to control for unmeasured familial confounding.
ResultsAt the population level maternal SDP predicted ADHD in offspring (HRModerateSDP=1.89; HRHighSDP=2.50). This estimate gradually attenuated toward the null when adjusting for measured confounders (HRModerateSDP=1.62; HRHighSDP=2.04), unmeasured confounders shared within the extended family (i.e., cousin comparison) (HRModerateSDP=1.45; HRHighSDP=1.69), and unmeasured confounders within the nuclear family (i.e., sibling comparison) (HRModerateSDP=0.88; HRHighSDP=0.84).
ConclusionsOur results suggest that the association between maternal SDP and offspring ADHD are due to unmeasured familial confounding.
C1 [Skoglund, Charlotte] Karolinska Inst, Dept Clin Neurosci, SE-17176 Stockholm, Sweden.
[Chen, Qi; Lichtenstein, Paul; Larsson, Henrik] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17176 Stockholm, Sweden.
[D'Onofrio, Brian M.] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA.
RP Skoglund, C (reprint author), Karolinska Inst, Dept Clin Neurosci, Adm Z5 00, SE-17176 Stockholm, Sweden.
EM charlotte.skoglund@sll.se
FU Stockholm County Council [K1426-2011]; Karolinska Institute
[K1426-2011]; Swedish Council for Working Life and Social Research;
Swedish Research Council [2010-3184, 2011-2492]; National Institute of
Child Health and Human Development, NICHD [HD061817]
FX Financial support was provided through the regional agreement on medical
training and clinical research (K1426-2011) between Stockholm County
Council and Karolinska Institute, through grants from the Swedish
Council for Working Life and Social Research, Swedish Research Council
(2010-3184; 2011-2492) and from the National Institute of Child Health
and Human Development, NICHD (HD061817).
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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 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD JAN
PY 2014
VL 55
IS 1
BP 61
EP 68
DI 10.1111/jcpp.12124
PG 8
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 269MW
UT WOS:000328246400009
PM 25359172
ER
PT J
AU Kennedy, MJ
Thomas, CN
Aronin, S
Newton, JR
Lloyd, JW
AF Kennedy, Michael J.
Thomas, Cathy Newman
Aronin, Sara
Newton, Jennifer R.
Lloyd, John Wills
TI Improving teacher candidate knowledge using content acquisition podcasts
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Technology; Theory; Teacher education; Podcasting; Disability
ID HIGHER-EDUCATION; INSTRUCTION; DESIGN; TECHNOLOGY; DISCOVERY
AB There are many open questions with respect to theory and empirical support for methods used in college teaching, especially when technology is incorporated into instruction. In this article, we report the results of a study of a multimedia-based instructional tool called Content Acquisition Podcasts (CAPs) that provides university instructors with a tool that is grounded in applied theory and has advanced through several iterations of developmental and experimental testing as suggested by Clark (2009). CAPs are a form of enhanced podcasts (still images synchronized with audio) that incorporate Mayer's cognitive theory of multimedia learning (2009), and accompanying instructional design principles (2008) to ensure the looks and sounds of instruction do not overwhelm the limitations of users' cognitive processes. This article reports data from one of the first five experimental tests of CAPs in which undergraduate teacher candidates received instruction related to content from an introductory course in special education. In this study, teacher candidates from two universities were randomly assigned either to watch a CAP or read a textbook chapter containing the same content for two topics: characteristics of students with learning disabilities or high-functioning autism. We employed a pretest-posttest-maintenance design to evaluate participant performance on dependent measures of knowledge. Results indicate that when participants learned with CAPs, they had significantly higher scores on content-knowledge tests at both posttest and maintenance assessments than when they studied via the usual text-based materials. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Kennedy, Michael J.; Lloyd, John Wills] Univ Virginia, Curry Sch Educ, Dept Curriculum Instruct & Special Educ, Charlottesville, VA 22904 USA.
[Thomas, Cathy Newman] Univ Missouri, Columbia, MO 65211 USA.
[Aronin, Sara] W Virginia Univ, Morgantown, WV 26506 USA.
[Newton, Jennifer R.] James Madison Univ, Harrisonburg, VA USA.
RP Kennedy, MJ (reprint author), Univ Virginia, Curry Sch Educ, Dept Curriculum Instruct & Special Educ, Bavaro Hall Room 327,POB 400273, Charlottesville, VA 22904 USA.
EM Mkennedy@Virginia.edu; ThomasCat@Missouri.edu; Sara.Aronin@mail.wvu.edu;
NewtonJr@jmu.edu; JohnL@Virginia.edu
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Bull G., 2005, Journal of Research on Technology in Education, V37
Wu WH, 2012, COMPUT EDUC, V59, P817, DOI 10.1016/j.compedu.2012.03.016
NR 48
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0360-1315
EI 1873-782X
J9 COMPUT EDUC
JI Comput. Educ.
PD JAN
PY 2014
VL 70
BP 116
EP 127
DI 10.1016/j.compedu.2013.08.010
PG 12
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA 246QL
UT WOS:000326554100011
ER
PT J
AU Volk, HE
Kerin, T
Lurmann, F
Hertz-Picciotto, I
McConnell, R
Campbell, DB
AF Volk, Heather E.
Kerin, Tara
Lurmann, Fred
Hertz-Picciotto, Irva
McConnell, Rob
Campbell, Daniel B.
TI Autism Spectrum Disorder Interaction of Air Pollution with the MET
Receptor Tyrosine Kinase Gene
SO EPIDEMIOLOGY
LA English
DT Article
ID AROMATIC-HYDROCARBON EXPOSURE; VARIANT; CHARGE
AB Background: Independent studies report association of autism spectrum disorder with air pollution exposure and a functional promoter variant (rs1858830) in the MET receptor tyrosine kinase (MET) gene. Toxicological data find altered brain Met expression in mice after prenatal exposure to a model air pollutant. Our objective was to investigate whether air pollution exposure and MET rs1858830 genotype interact to alter the risk of autism spectrum disorder.
Methods: We studied 252 cases of autism spectrum disorder and 156 typically developing controls from the Childhood Autism Risk from Genetics and the Environment Study. Air pollution exposure was assigned for local traffic-related sources and regional sources (particulate matter, nitrogen dioxide, and ozone). MET genotype was determined by direct resequencing.
Results: Subjects with both MET rs1858830 CC genotype and high air pollutant exposures were at increased risk of autism spectrum disorder compared with subjects who had both the CG/GG genotypes and lower air pollutant exposures. There was evidence of multiplicative interaction between NO2 and MET CC genotype (P= 0.03).
Conclusions:MET rs1858830 CC genotype and air pollutant exposure may interact to increase the risk of autism spectrum disorder.
C1 [Volk, Heather E.; Kerin, Tara; McConnell, Rob] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA.
[Volk, Heather E.] Univ So Calif, Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA 90089 USA.
[Volk, Heather E.; Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA.
[Lurmann, Fred] Sonoma Technol Inc, Petaluma, CA USA.
[Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Dept Psychiat & Behav Sci, Los Angeles, CA 90089 USA.
[Campbell, Daniel B.] Univ So Calif, Keck Sch Med, Ctr Genom Psychiat, Los Angeles, CA 90089 USA.
RP Volk, HE (reprint author), Univ So Calif, 2001 N Soto St,MC 9237, Los Angeles, CA 90089 USA.
EM hvolk@usc.edu
FU South Coast Air Quality Management District, a California state
regulatory agency; BP; Autism Speaks; NIEHS [ES019002, ES013578,
ES007048, ES11269, ES015359, ES016535, ES011627]; EPA Star-R [823392,
833292]; MIND Institute
FX F.L. is an employee of Sonoma Technology Inc., Petaluma, CA. R.M.C.
received support from an air quality violations settlement agreement
between the South Coast Air Quality Management District, a California
state regulatory agency, and BP. H. E. V. received travel funds from
Autism Speaks to present a paper at an academic conference. The other
authors declare no competing financial interests.Supported by NIEHS;
ES019002, ES013578, ES007048, ES11269, ES015359, ES016535, and ES011627;
EPA Star-R; 823392, 833292; and MIND Institute matching funds and pilot
grant program.
CR BENSON PE, 1992, ATMOS ENVIRON B-URB, V26, P379, DOI 10.1016/0957-1272(92)90013-I
Campbell DB, 2006, P NATL ACAD SCI USA, V103, P16834, DOI 10.1073/pnas.0605296103
Campbell DB, 2007, ANN NEUROL, V62, P243, DOI 10.1002/ana.21180
Campbell DB, 2008, AUTISM RES, V1, P159, DOI 10.1002/aur.27
Hertz-Picciotto I, 2006, ENVIRON HEALTH PERSP, V114, P1119, DOI 10.1289/ehp.8483
Heuer L, 2011, TRANSL PSYCHIAT, V1, DOI 10.1038/tp.2011.48
Perera FP, 2011, ENVIRON HEALTH PERSP, V119, P1176, DOI 10.1289/ehp.1002705
Perera FP, 2009, PEDIATRICS, V124, pE195, DOI 10.1542/peds.2008-3506
Schmidt RJ, 2011, EPIDEMIOLOGY, V22, P476, DOI 10.1097/EDE.0b013e31821d0e30
Sheng L, 2010, TOXICOL SCI, V118, P625, DOI 10.1093/toxsci/kfq304
Volk HE, 2011, ENVIRON HEALTH PERSP, V119, P873, DOI 10.1289/ehp.1002835
Volk Heather E., 2012, JAMA PSYCHIAT, V70, P71
NR 12
TC 7
Z9 8
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 1044-3983
EI 1531-5487
J9 EPIDEMIOLOGY
JI Epidemiology
PD JAN
PY 2014
VL 25
IS 1
BP 44
EP 47
DI 10.1097/EDE.0000000000000030
PG 4
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA 268XW
UT WOS:000328205200010
PM 24240654
ER
PT J
AU Memari, AH
Ghanouni, P
Shayestehfar, M
Ziaee, V
Moshayedi, P
AF Memari, Amir Hossein
Ghanouni, Parisa
Shayestehfar, Monir
Ziaee, Vahid
Moshayedi, Pouria
TI Effects of visual search vs. auditory tasks on postural control in
children with autism spectrum disorder
SO GAIT & POSTURE
LA English
DT Article
DE Autism spectrum disorder; Auditory task; Children; Postural control;
Visual task
ID CONCURRENT COGNITIVE TASK; ATTENTIONAL DEMANDS; COORDINATION; INCREASES;
GAIT; SWAY
AB Recent research in motor control shows the interactive role of cognitive factors in postural control. However, there is little understanding in how children with autism spectrum disorder (ASD) develop their postural behaviors. This study compares the interference of visual or auditory tasks on postural control in children with ASD. We examined 19 children with ASD (10-15 years old) and also 28 age-matched typically developing (TD) children. They were asked to perform two tasks during postural control: (1) a visual searching task (2) an auditory digit span task. Postural performances were measured with a force platform. Results showed that children with ASD indicated higher postural sway scores in visual task vs. auditory task; as root mean square (p = 0.04), mean velocity (p = 0.01) and sway area (p = 0.02) but TD children scores remained unchanged. Children with ASD also showed significantly higher sway scores than TD children in all parameters. We conclude that in addition to primary differences in patterns of postural control of children with ASD compared to TD children, visual and auditory tasks may differently influence the postural control in this population. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Memari, Amir Hossein] Univ Tehran Med Sci, Sports Med Res Ctr, Inst Neurosci, Tehran, Iran.
[Ghanouni, Parisa; Shayestehfar, Monir] Shahid Beheshti Univ Med Sci, Rehabil Ctr, Tehran, Iran.
[Ziaee, Vahid] Univ Tehran Med Sci, Growth & Dev Res Ctr, Tehran, Iran.
[Moshayedi, Pouria] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA.
RP Memari, AH (reprint author), Univ Tehran Med Sci, Sports Med Res Ctr, Inst Neurosci, 7 Al E Ahmad Highway,POB 14395-578, Tehran, Iran.
EM amirmemari@farabi.tums.ac.ir
CR Bigelow KE, 2008, IDENTIFICATION KEY T
CDC, 2012, MMWR SURVEILL SUMM, V61, P1
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Laufer Y, 2008, GAIT POSTURE, V27, P347, DOI 10.1016/j.gaitpost.2007.04.013
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Sylos Labini F, 2008, BIOPHYSICS BIOENGINE, V1
Teasdale N, 2001, GAIT POSTURE, V14, P203, DOI 10.1016/S0966-6362(01)00134-5
Tomchek SD, 2007, AM J OCCUP THER, V61, P190
Vuillerme N, 2000, NEUROSCI LETT, V291, P77, DOI 10.1016/S0304-3940(00)01374-4
Woollacott M, 2002, GAIT POSTURE, V16, P1, DOI 10.1016/S0966-6362(01)00156-4
NR 29
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0966-6362
EI 1879-2219
J9 GAIT POSTURE
JI Gait Posture
PD JAN
PY 2014
VL 39
IS 1
BP 229
EP 234
DI 10.1016/j.gaitpost.2013.07.012
PG 6
WC Neurosciences; Orthopedics; Sport Sciences
SC Neurosciences & Neurology; Orthopedics; Sport Sciences
GA 259QS
UT WOS:000327542000040
PM 23931847
ER
PT J
AU Fournier, KA
Amano, S
Radonovich, KJ
Bleser, TM
Hass, CJ
AF Fournier, Kimberly A.
Amano, Shinichi
Radonovich, Krestin J.
Bleser, Tana M.
Hass, Chris J.
TI Decreased dynamical complexity during quiet stance in children with
Autism Spectrum Disorders
SO GAIT & POSTURE
LA English
DT Article
DE Autism Spectrum Disorders (ASD); Center of pressure (COP); Multiscale
entropy (MSE); Posture; Nonlinear
ID POSTURAL CONTROL; APPROXIMATE ENTROPY; MOVEMENT-DISORDERS;
PARKINSONS-DISEASE; HEALTHY-YOUNG; ADULTS; PERFORMANCE; STABILITY;
BALANCE; TASK
AB Background: Postural control deficits in individuals with Autism Spectrum Disorders (ASD) are widely acknowledged; however, the underlying biomechanical features of these deficits remain unknown. Nonlinear analyses provide insight into the nature of how movement is controlled and have the potential to provide new insight into the postural control abnormalities associated with ASD. The purpose of this study was to further investigate postural control deficits in children with ASD through linear and nonlinear analyses of center of pressure (COP) data.
Methods: We evaluated COP data during quiet standing for 16 children with ASD and 17 age-matched typically developing (TD) children. The magnitude of COP fluctuations (COP ranges, velocity, and sway area) and complexity of postural control dynamics, quantified by multiscale entropy (MSE), were compared across groups.
Results: Children with ASD displayed larger fluctuations in their COP data, observed in COP ranges (95.5% mediolaterally and 46.9% anteroposteriorly, p < 0.05 respectively) and COP sway area (885%, p < 0.05). Children with ASD also displayed less complexity in their COP data, observed in the MSE complexity index (CI) (32.4% mediolaterally and 35.7% anteroposteriorly, p < 0.05 respectively).
Conclusions: The present study successfully revealed that children with ASD have more repetitive patterns in their COP data, indicating a less complex control of posture, on multiple time scales, during quiet stance. These findings suggest a more regular or restricted control of posture and may be an initial step in linking postural instability to stereotypic behavior and the neurobiology of ASD. Published by Elsevier B.V.
C1 [Fournier, Kimberly A.] Univ Rhode Isl, Dept Kinesiol, Kingston, RI 02881 USA.
[Amano, Shinichi; Hass, Chris J.] Univ Florida, Dept Appl Physiol & Kinesiol, Gainesville, FL USA.
[Radonovich, Krestin J.] Univ Florida, Dept Pediat, Gainesville, FL USA.
[Bleser, Tana M.] Univ Florida, Dept Psychol, Gainesville, FL 32611 USA.
RP Fournier, KA (reprint author), Univ Rhode Isl, Dept Kinesiol, Kingston, RI 02881 USA.
EM kimfournier@mail.uri.edu
RI Fournier, Kimberly/E-5052-2013
OI Fournier, Kimberly/0000-0001-5830-6131
FU Autism Speaks [1964/01-201007-065-00-00-01]
FX This study was supported in part by Autism Speaks
(#1964/01-201007-065-00-00-01). The content of this manuscript is solely
the responsibility of the authors and does not necessarily represent the
official views of Autism Speaks.
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NR 30
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0966-6362
EI 1879-2219
J9 GAIT POSTURE
JI Gait Posture
PD JAN
PY 2014
VL 39
IS 1
BP 420
EP 423
DI 10.1016/j.gaitpost.2013.08.016
PG 4
WC Neurosciences; Orthopedics; Sport Sciences
SC Neurosciences & Neurology; Orthopedics; Sport Sciences
GA 259QS
UT WOS:000327542000071
PM 24055002
ER
PT J
AU Gruber, K
Frohlich, U
Noterdaeme, M
AF Gruber, Karolin
Froehlich, Ulrike
Noterdaeme, Michele
TI Effect of a parent training program to enhance social communication of
children with autism spectrum disorders
SO KINDHEIT UND ENTWICKLUNG
LA English
DT Article
DE autism spectrum disorders; parent training; social communication; TASK
ID EARLY INTERVENTION; BEHAVIORS
AB TASK: Training Autism . Language . Communication is a parent group training to enhance social communication in children with ASD. The training evaluation took place in a nonrandomized controlled pilot study of 22 children with ASD, aged 40-71 months, whose parents were either assigned to the TASK-group (n = 12) or a treatment-as-usual-group (n = 10). Social communication was measured prior and immediately after the intervention and within the TASK-group in a follow-up using questionnaires and a video-recorded parent-child interaction. The video data were coded in the Dyadic Communication Measure for Autism. In parents the percentage of synchronous communication within the TASK-group changed positively (p = .049). In children the initiating communication of the TASK-group increased compared with the TAU-group (p = .028). In the follow-up a significant increase of child communication was observed. The results of the pilot study need to be verified through a randomized controlled trial before final conclusions can be drawn.
C1 [Gruber, Karolin; Froehlich, Ulrike; Noterdaeme, Michele] Klin Kinder & Jugendpsychiat & Psychotherapie Jos, Augsburg, Germany.
RP Gruber, K (reprint author), Behandlungszentrum Autismus & Entwicklungsstorung, Josefinum Klin Kinder & Jugendpsychiat & Psychoth, Kapellenstr 30, D-86154 Augsburg, Germany.
EM karolin.gruber@edu.lmu.de
CR Aldred C., 2011, PRESCHOOL AUTISM COM
Amorosa H., 2010, AUTISMUS SPEKTRUM ST, P46
Bolte S, 2011, NERVENARZT, V82, P590, DOI 10.1007/s00115-010-3237-8
Buschmann A., 2011, HEIDELBERGER ELTERTR
Freitag CM, 2010, Z KINDER JUG-PSYCH, V38, P247, DOI 10.1024/1422-4917/a000043
Freitag CM, 2012, Z KINDER JUG-PSYCH, V40, P139, DOI 10.1024/1422-4917/a000164
Frohlich U., 2014, ELTERNTRAINING ANBAH
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Grimm H, 2006, ELFRA ELTERNFRAGEBOG
Gruber K., 2012, KONTROLLIERTE PILOTE
Hegenscheidt S., 2010, PEDRO SKALA DTSCH
Howlin P., 2011, AUTISM SPECRUM CONDI, P87
Jaspers M, 2012, AUTISTISCHE STORUNGE
Kamp-Becker I, 2010, KINDH ENTWICKL, V19, P144, DOI 10.1026/0942-5403/a000019
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Noterdaeme M, 2011, KLIN PADIATR, V223, P1
Noterdaeme M, 2011, INKLUSION MENSCHEN A, P203
Papousek M, 2011, FRUHE STORUNGEN BEHA, P69
Patterson SY, 2012, AUTISM, V16, P498, DOI 10.1177/1362361311413398
Poustka L, 2012, KINDH ENTWICKL, V21, P81, DOI 10.1026/0942-5403/a000074
Sarimski K., 2003, SPIEL KREATIVITAT FR, P215
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Siller M, 2002, J AUTISM DEV DISORD, V32, P77, DOI 10.1023/A:1014884404276
Wetherby AM, 2002, COMMUNICATION SYMBOL
NR 28
TC 1
Z9 1
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0942-5403
EI 2190-6246
J9 KINDH ENTWICKL
JI Kindh. Entwickl.
PY 2014
VL 23
IS 1
BP 42
EP 51
DI 10.1026/0942-5403/a000123
PG 10
WC Psychology, Developmental
SC Psychology
GA 268SP
UT WOS:000328191100006
ER
PT J
AU Linton, KF
Krcek, TE
Sensui, LM
Spillers, JLH
AF Linton, Kristen Faye
Krcek, Taylor E.
Sensui, Leonard M.
Spillers, Jessica L. H.
TI Opinions of People Who Self-Identify With Autism and Asperger's on DSM-5
Criteria
SO RESEARCH ON SOCIAL WORK PRACTICE
LA English
DT Article
DE autism spectrum disorders; DSM-5; Aspergers; gender; validity
ID SPECTRUM DISORDER; DIAGNOSTIC-CRITERIA; IV; RELIABILITY; AGREEMENT
AB Purpose: Autistic disorder (AD), Asperger's syndrome (AS), and pervasive developmental disorder-not otherwise specified (PDD-NOS) have been removed from the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5). It now contains the autism spectrum disorder (ASD) diagnosis. This study assessed how people with AD and AS felt about the DSM-5 ASD criteria.
Method: Phenomenological analysis of discussion forum dialogue among participants (N = 76) with AD and AS was conducted.
Results: Discussions demonstrated agreement that the PDD-NOS diagnosis should be removed from the DSM-5. People with AD and AS were concerned about the inclusion of medical or neurobiological research, functioning, reciprocity, and gender bias in the ASD diagnosis.
Discussion: Social workers should acknowledge the feelings of people with AD and AS when they use the DSM-5.
C1 [Linton, Kristen Faye; Sensui, Leonard M.; Spillers, Jessica L. H.] Univ Hawaii Manoa, Myron B Thompson Sch Social Work, Honolulu, HI 96822 USA.
[Krcek, Taylor E.] Univ Tennessee, Coll Social Work, Knoxville, TN USA.
RP Linton, KF (reprint author), Univ Hawaii Manoa, Myron B Thompson Sch Social Work, 1800 East West Rd, Honolulu, HI 96822 USA.
EM kfbean@hawaii.edu
CR Adams HL, 2011, CHILD YOUTH SERV REV, V33, P254, DOI 10.1016/j.childyouth.2010.09.008
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2012, DSM 5 DEV
Autism & Oughtisms, 2012, A FRANC PROBL PRIM D
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Yu KK, 2011, J PSYCHIATR NEUROSCI, V36, P412, DOI 10.1503/jpn.100138
NR 41
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1049-7315
EI 1552-7581
J9 RES SOCIAL WORK PRAC
JI Res. Soc. Work. Pract.
PD JAN
PY 2014
VL 24
IS 1
SI SI
BP 67
EP 77
DI 10.1177/1049731513495457
PG 11
WC Social Work
SC Social Work
GA 269EL
UT WOS:000328224200007
ER
PT J
AU Karim, K
Cook, L
O'Reilly, M
AF Karim, K.
Cook, L.
O'Reilly, M.
TI Diagnosing autistic spectrum disorder in the age of austerity
SO CHILD CARE HEALTH AND DEVELOPMENT
LA English
DT Article
DE autism; diagnosis; perceptions; professionals
ID CHILDREN; CLASSIFICATION; COMMUNICATION; PREVALENCE; PARENTS
AB BackgroundDiagnosing autistic spectrum disorder is a challenge, typically involving myriad professionals. In the current climate we explore how diagnosis is managed in the real world by professionals.
MethodsUsing semi-structured interviews we thematically analyse data from psychiatrists, paediatricians and educational psychologists.
ResultsWhile there is some consistency across and within these groups there are also a number of variances, and several important issues are highlighted. These include the problem of time and resources, the issue of location for diagnosis, the value of diagnostic tools and schedules, the need for supporting information, the difficulty of multi-agency working, the relevance of a physical examination and the eventual diagnostic label.
ConclusionsIn the current economic climate and considering changes in guidelines there is a need to evaluate current service provision and enhance services. However, attention needs to be paid to the practical and realistic application of the suggested guidance.
C1 [Karim, K.; Cook, L.; O'Reilly, M.] Univ Leicester, Greenwood Inst Child Hlth, Dept Psychol, Leicester LE3 0QU, Leics, England.
RP O'Reilly, M (reprint author), Univ Leicester, Greenwood Inst Child Hlth, Westcotes Dr, Leicester LE3 0QU, Leics, England.
EM mjo14@le.ac.uk
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National Institute for Clinical Excellence, 2011, NAT I CLIN EXC CLIN
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Spencer L., 2003, QUALITY QUALITATIVE
Wing L., 1991, DIAGNOSTIC INTERVIEW
WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288
World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 23
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0305-1862
EI 1365-2214
J9 CHILD CARE HLTH DEV
JI Child Care Health Dev.
PD JAN
PY 2014
VL 40
IS 1
BP 115
EP 123
DI 10.1111/j.1365-2214.2012.01410.x
PG 9
WC Psychology, Developmental; Pediatrics
SC Psychology; Pediatrics
GA 262IP
UT WOS:000327728100014
PM 22712808
ER
PT J
AU Condro, MC
White, SA
AF Condro, Michael C.
White, Stephanie A.
TI Distribution of Language-Related Cntnap2 Protein in Neural Circuits
Critical for Vocal Learning
SO JOURNAL OF COMPARATIVE NEUROLOGY
LA English
DT Article
DE autism; birdsong; Caspr2; speech; zebra finch
ID ZEBRA FINCH SONG; TAENIOPYGIA-GUTTATA; MYELINATED AXONS; HUMAN SPEECH;
K+-CHANNELS; NEUREXIN SUPERFAMILY; PROJECTION NEURONS; FORKHEAD-DOMAIN;
LEAD-EXPOSURE; KV1 CHANNELS
AB Variants of the contactin associated protein-like 2 (Cntnap2) gene are risk factors for language-related disorders including autism spectrum disorder, specific language impairment, and stuttering. Songbirds are useful models for study of human speech disorders due to their shared capacity for vocal learning, which relies on similar cortico-basal ganglia circuitry and genetic factors. Here we investigate Cntnap2 protein expression in the brain of the zebra finch, a songbird species in which males, but not females, learn their courtship songs. We hypothesize that Cntnap2 has overlapping functions in vocal learning species, and expect to find protein expression in song-related areas of the zebra finch brain. We further expect that the distribution of this membrane-bound protein may not completely mirror its mRNA distribution due to the distinct subcellular localization of the two molecular species. We find that Cntnap2 protein is enriched in several song control regions relative to surrounding tissues, particularly within the adult male, but not female, robust nucleus of the arcopallium (RA), a cortical song control region analogous to human layer 5 primary motor cortex. The onset of this sexually dimorphic expression coincides with the onset of sensorimotor learning in developing males. Enrichment in male RA appears due to expression in projection neurons within the nucleus, as well as to additional expression in nerve terminals of cortical projections to RA from the lateral magnocellular nucleus of the nidopallium. Cntnap2 protein expression in zebra finch brain supports the hypothesis that this molecule affects neural connectivity critical for vocal learning across taxonomic classes. J. Comp. Neurol. 522:169-185, 2014. (c) 2013 Wiley Periodicals, Inc.
C1 [Condro, Michael C.; White, Stephanie A.] Univ Calif Los Angeles, Mol Cellular & Integrat Physiol Interdept Program, Los Angeles, CA 90095 USA.
[White, Stephanie A.] Univ Calif Los Angeles, Dept Integrat Biol & Physiol, Los Angeles, CA 90095 USA.
RP White, SA (reprint author), Univ Calif Los Angeles, Dept Integrat Biol & Physiol, 610 Charles E Young Dr East, Los Angeles, CA 90095 USA.
EM sawhite@ucla.edu
FU National Institutes of Health [NIH 5 T32 NS058280, NIH R21 HD065271];
UCLA Eureka Scholarship; UCLA Edith Hyde Fellowship; US Army [AR093327]
FX Grant sponsors: National Institutes of Health; Grant numbers: NIH 5 T32
NS058280, NIH R21 HD065271; Grant sponsor: UCLA Eureka Scholarship;
Grant sponsor: UCLA Edith Hyde Fellowship (to M.C.C.); Grant sponsor: US
Army; Grant number: AR093327 (to S.A.W.).
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NR 69
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9967
EI 1096-9861
J9 J COMP NEUROL
JI J. Comp. Neurol.
PD JAN
PY 2014
VL 522
IS 1
BP 169
EP 185
DI 10.1002/cne.23394
PG 17
WC Neurosciences; Zoology
SC Neurosciences & Neurology; Zoology
GA 256XG
UT WOS:000327346800009
PM 23818387
ER
EF