FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Gilley, C
Ringdahl, JE
AF Gilley, Caitlin
Ringdahl, Joel E.
TI The effects of item preference and token reinforcement on sharing
behavior exhibited by children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Social skills; Autism spectrum disorder; Children; Token economy; Item
preference; Sharing
ID PRESCHOOL-CHILDREN; ASSESSMENTS
AB The current studies evaluated variables affecting sharing exhibited by children with autism spectrum disorder. Study 1 evaluated the effects of manipulating item preference on the level of assistance needed to exhibit sharing behavior for 4 children with autism. Item preference clearly affected 2 participants' percentage of independent sharing. Preference did not have as clear of an effect for a third participant. However, sharing a high-preference item generally required a higher level of prompting (e.g., vocal prompts) to share. The fourth participant's percentage of independent sharing was not influenced by preference, and his independent sharing behavior was similar across item preference. Study 2 assessed the effectiveness of a token reinforcement procedure as an intervention designed to increase independent sharing of high-preference items for the two participants who did not independently share those items during Study 1. Independent sharing increased for both participants when the token procedure was in place and decreased when it was removed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Gilley, Caitlin; Ringdahl, Joel E.] So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
RP Ringdahl, JE (reprint author), So Illinois Univ, Inst Rehabil, Carbondale, IL 62901 USA.
EM joelringdahl@siu.edu
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 20
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 NOV
PY 2014
VL 8
IS 11
BP 1425
EP 1433
DI 10.1016/j.rasd.2014.07.010
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100001
ER
PT J
AU Bodner, KE
Williams, DL
Engelhardt, CR
Minshew, NJ
AF Bodner, Kimberly E.
Williams, Diane L.
Engelhardt, Christopher R.
Minshew, Nancy J.
TI A comparison of measures for assessing the level and nature of
intelligence in verbal children and adults with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; High-functioning; Intelligence; Wechsler;
Raven's Progressive Matrices; Cognition
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS;
SEX-DIFFERENCES; CONFIDENCE-INTERVALS; EFFECT SIZES; INDIVIDUALS; IQ;
DIAGNOSIS; PROFILE
AB Previous work has suggested that the Raven's Progressive Matrices (RPM) are better suited for capturing the nature of intelligence for individuals with autism spectrum disorder (ASD) than the Wechsler scales. The RPM measures 'fluid intelligence', an area for which it has been argued that persons with ASD have a relative strength. Given that measures of intelligence are used for establishing clinical diagnoses, for making educational decisions, and for group-matching in research studies, continued examination of this contention is warranted. In the current study, verbal children with ASD performed moderately better on the RPM than on the Wechsler scales; children without ASD received higher percentile scores on the Wechsler than on the RPM. Adults with and without ASD received higher percentile scores on the Wechsler than the RPM. Results suggest that the RPM and Wechsler scales measure different aspects of cognitive abilities in verbal individuals with ASD. For the verbal children and adults with ASD in the current study, the RPM and Wechsler scales have unique contributions that must be considered in-context when establishing a baseline of cognitive function. The results of this investigation highlight the importance of thoughtfully selecting appropriate measures of intelligence consistent with clinical, educational, and research purposes, especially for verbal children and adults with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Bodner, Kimberly E.; Williams, Diane L.; Minshew, Nancy J.] Univ Pittsburgh, Sch Med, NIH Autism Ctr Excellence, Pittsburgh, PA 15213 USA.
[Williams, Diane L.] Duquesne Univ, Rangos Sch Hlth Sci, Pittsburgh, PA 15282 USA.
[Engelhardt, Christopher R.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15213 USA.
RP Bodner, KE (reprint author), Univ Missouri, Dept Psychol Sci, 3 McAlester Hall, Columbia, MO 65211 USA.
EM kimberly.bodner@mail.mizzou.edu; williamsd2139@duq.edu;
engelhardtc@health.missouri.edu; minshewnj@upmc.edu
CR Algina J, 2003, EDUC PSYCHOL MEAS, V63, P537, DOI 10.1177/0013164403256358
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Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd
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Williams DL, 2008, RES AUTISM SPECT DIS, V2, P353, DOI 10.1016/j.rasd.2007.08.005
NR 40
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 NOV
PY 2014
VL 8
IS 11
BP 1434
EP 1442
DI 10.1016/j.rasd.2014.07.015
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100002
ER
PT J
AU Shillingsburg, MA
Bowen, CN
Shapiro, SK
AF Shillingsburg, M. Alice
Bowen, Crystal N.
Shapiro, Steven K.
TI Increasing social approach and decreasing social avoidance in children
with autism spectrum disorder during discrete trial training
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Social approach; Social avoidance; Discrete trial training; Autism;
Pairing; Reflexive establishing operations
ID DIFFERENTIAL REINFORCEMENT; ESTABLISHING OPERATIONS; BEHAVIORAL
TREATMENT; INTERVENTION; PREVENTION; STIMULI
AB Instructions presented during discrete trial training (DTT) may evoke problem behavior and exacerbate social avoidance in children with autism spectrum disorder (ASD). Given the importance of DTT in comprehensive interventions, evaluating procedures to increase social responsiveness and approach during DTT are warranted. The effect of antecedent strategies on social avoidance during DTT in two children with ASD was examined. A pairing procedure in which one therapist removed demands and paired social interaction with access to preferred toys and activities was compared to a demand procedure in which a therapist presented instructions. Social approach was higher and social avoidance was lower in sessions with the pairing therapist compared to the non-pairing therapist during the Pairing Intervention and during post-pairing demand sessions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shillingsburg, M. Alice; Bowen, Crystal N.] Marcus Autism Ctr, Atlanta, GA USA.
[Shillingsburg, M. Alice] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA.
[Shapiro, Steven K.] Auburn Univ, Dept Psychol, Auburn, AL 36849 USA.
RP Shillingsburg, MA (reprint author), 1920 Briarcliff Rd, Atlanta, GA 30329 USA.
EM alice.shillingsburg@choa.org
CR Ahearn W. H., 2012, APA HDB BEHAV ANAL, V2, P301
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 37
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 NOV
PY 2014
VL 8
IS 11
BP 1443
EP 1453
DI 10.1016/j.rasd.2014.07.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100003
ER
PT J
AU Park, JH
Kim, YS
Koh, YJ
Song, J
Leventhal, BL
AF Park, Ju Hee
Kim, Young-Shin
Koh, Yun-Joo
Song, Jungeun
Leventhal, Bennett L.
TI A contrast of comorbid condition and adaptive function between children
with Autism Spectrum Disorder from clinical and non-clinical populations
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorders; Comorbid condition; Adaptive function;
BASC-2-PRS
ID PERVASIVE DEVELOPMENTAL DISORDERS; PSYCHIATRIC-DISORDERS;
ASPERGER-SYNDROME; DIAGNOSIS; PREVALENCE; BEHAVIORS; INTERVIEW; ASD
AB To investigate factors that might hamper early identification of Autism Spectrum Disorder (ASD), the present study examined differences between comorbid conditions and adaptive functions measured by the BASC-2 PRS in an epidemiologically ascertained group of children with ASD (Clinical and Non-clinical ASD groups), those who were screened positive but confirmed not to have ASD (No-ASD), and a group of typical, community children (N = 5222). Results indicate that the Clinical ASD group scored lower on the Externalizing Problems composite, Aggression, and Conduct Problems scales than did the No-ASD group whereas the Non-clinical ASD group did not differ from the other two groups except on the Conduct Problem scale. Further, the Clinical ASD group significantly scored lower than the other two groups the Adaptive Skills composite. The scores of the Clinical ASD group on the Social Skills and Leadership scales were lower than those in the No-ASD group, but not those in the Nonclinical ASD group. Results suggest that the frequent comorbid behavioral problems and higher adaptive skills of children in a non-clinical population, compared to a clinical population could mask their core ASD symptoms, resulting in a delay for caretakers to seek appropriate services for these children. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Park, Ju Hee] Yonsei Univ, Dept Child & Family Studies, Seoul 120749, South Korea.
[Kim, Young-Shin; Leventhal, Bennett L.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94143 USA.
[Kim, Young-Shin; Leventhal, Bennett L.] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
[Kim, Young-Shin; Leventhal, Bennett L.] Yonsei Univ, Dept Psychiat, Seoul 120749, South Korea.
[Koh, Yun-Joo] Korea Inst Childrens Social Dev, Rudolph Child Res Ctr, Seoul 122824, South Korea.
[Song, Jungeun] Natl Hlth Insurance Serv Ilsan Hosp, Dept Psychiat, Goyangsi 410719, Gyeonggi Do, South Korea.
RP Kim, YS (reprint author), Univ Calif San Francisco, Dept Psychiat, 401 Parnassus Ave,Box 0984, San Francisco, CA 94143 USA.
EM youngshin.kim@ucsf.edu
CR Achenbach T. M., 1991, MANUAL FOR THE CHILD
American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
American Psychiatric Association, 1994, DIAGNOSTIC AND STATI
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Disease Control and Prevention, 2014, MORBIDITY AND MORTAL, V63, P1
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Yim G., 2012, THESIS
NR 44
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 NOV
PY 2014
VL 8
IS 11
BP 1471
EP 1481
DI 10.1016/j.rasd.2014.07.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100005
ER
PT J
AU Brown, HM
Johnson, AM
Smyth, RE
Cardy, JO
AF Brown, Heather M.
Johnson, Andrew M.
Smyth, Rachael E.
Cardy, Janis Oram
TI Exploring the persuasive writing skills of students with
high-functioning autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Written expression; Persuasive writing; Oral
language; Weak central coherence; Theory of mind
ID LANGUAGE-LEARNING DISABILITIES; REGULATED STRATEGY-DEVELOPMENT;
ASPERGER-SYNDROME; PLANNING INSTRUCTION; EXPOSITORY DISCOURSE; STORY
CHARACTERS; CHILDREN; ADULTS; IMPAIRMENT; ADOLESCENTS
AB Previous studies of students with high-functioning autism spectrum disorder (HFASD) have shown great variability in their writing abilities. Most previous studies of students with HFASD have combined individuals with linguistic impairments (HF-ALI) and individuals without linguistic impairments (HF-ALN) into a single group. The current study was the first to compare the persuasive writing of students with HF-ALN with controls, without confounding the effects of language ability and autism on writing achievement, and while considering possible cognitive underpinnings of their writing skills. Twenty-five students with HF-ALN and 22 typically developing controls completed measures of oral language, nonverbal IQ social responsiveness, theory of mind, integrative processing and persuasive writing. The persuasive texts were coded on 19 variables across six categories: productivity, grammatical complexity, lexical diversity, cohesiveness, writing conventions, and overall quality. The texts were reliably different between groups across measures of productivity, syntactic complexity, lexical complexity and persuasive quality. Specifically, the texts of students with HF-ALN scored lower on overall quality (d = -0.6 SD), contained shorter and simpler sentences (d = -1.0), and had less repetition of content words (d = -0.8 SD). For the HF-ALN group, integrative processing, language ability and age predicted 77% of the variance in persuasive quality. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Brown, Heather M.; Smyth, Rachael E.] Univ Western Ontario, Elborn Coll, Grad Program Hlth & Rehabil Sci, London, ON N6G 1H1, Canada.
[Johnson, Andrew M.] Univ Western Ontario, Elborn Coll, Sch Hlth Studies, London, ON N6G 1H1, Canada.
[Cardy, Janis Oram] Univ Western Ontario, Elborn Coll, Sch Commun Sci & Disorders, London, ON N6G 1H1, Canada.
RP Brown, HM (reprint author), Univ Western Ontario, Dept Psychol, Westminster Hall, London, ON N6A 3K7, Canada.
EM heather.brown@alumni.uwo.ca
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NR 81
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 NOV
PY 2014
VL 8
IS 11
BP 1482
EP 1499
DI 10.1016/j.rasd.2014.07.017
PG 18
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100006
ER
PT J
AU Williams, LW
Matson, JL
Goldin, RL
Adams, HL
AF Williams, Lindsey W.
Matson, Johnny L.
Goldin, Rachel L.
Adams, Hilary L.
TI Children assessed for Autism Spectrum Disorder: Developmental delay and
change over time in BDI-2 developmental quotients
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Developmental change; Developmental quotient;
BDI-2
ID INTENSIVE BEHAVIORAL INTERVENTION; PROSPECTIVE FOLLOW-UP;
YOUNG-CHILDREN; PREDICTIVE-VALIDITY; DIAGNOSTIC-CRITERIA;
MENTAL-RETARDATION; SCHOOL-AGE; PDD-NOS; DSM-IV; TODDLERS
AB Individuals with Autism Spectrum Disorder (ASD) often have overall developmental delays and delays in developmental domains outside of the core ASD symptoms. Research results have been mixed regarding the stability of level of functioning over time in young children with ASD symptoms. Elements that influence development over time in young children with ASD symptoms are an important area of research. Early assessment and intervention is critical to improving prognosis, though effectiveness of intervention depends on a number of factors with some researchers suggesting IQ or overall functioning may influence the degree or rapidity of treatment effects. Using the Battelle Developmental Inventory, this study investigates the effect of overall developmental quotient (DQ) at first assessment on subsequent DQ scores, including scores in communication and adaptive domains in a sample of toddlers evincing significant ASD symptoms. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Williams, Lindsey W.; Matson, Johnny L.; Goldin, Rachel L.; Adams, Hilary L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Williams, LW (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM lwil175@lsu.edu
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NR 70
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 NOV
PY 2014
VL 8
IS 11
BP 1500
EP 1507
DI 10.1016/j.rasd.2014.08.001
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100007
ER
PT J
AU Mazurek, MO
Keefer, A
Shui, A
Vasa, RA
AF Mazurek, Micah O.
Keefer, Amy
Shui, Amy
Vasa, Roma A.
TI One-year course and predictors of abdominal pain in children with autism
spectrum disorders: The role of anxiety and sensory over-responsivity
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Abdominal pain; Gastrointestinal problems; Anxiety; Sensory problems;
Autism; Autism spectrum disorder
ID IRRITABLE-BOWEL-SYNDROME; OF-THE-LITERATURE; FUNCTIONAL GASTROINTESTINAL
DISORDERS; VISCERAL HYPERSENSITIVITY; SOMATIC COMPLAINTS; SYMPTOMS;
METAANALYSIS; PREVALENCE; ADOLESCENTS; MODULATION
AB Objectives: To examine the one-year course of parent-reported abdominal pain in children with autism spectrum disorder (ASD), and to determine whether anxiety and sensory over-responsivity (SOR) contribute to the onset or remission of abdominal pain.
Methods: Participants included 225 children (ages 2-17) with ASD enrolled in the Autism Speaks Autism Treatment Network. Primary measures included the parent-reported GI Symptom Inventory Questionnaire, Child Behavior Checklist, and Short Sensory Profile.
Results: One-fourth (25.8%) experienced chronic abdominal pain (duration >= 3 months) at baseline, persisting at one-year follow-up for 86.7%. New onset pain occurred for 23.8% of those without baseline pain. Anxiety, SOR, and chronic abdominal pain were associated at baseline. SOR significantly predicted new onset pain, but neither anxiety nor SOR were predictors of pain remission.
Conclusions: Abdominal pain appears to be common and persistent among children with ASD. The relations among SOR, anxiety and abdominal pain offer information about potential underlying mechanisms. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mazurek, Micah O.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mazurek, Micah O.] Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA.
[Keefer, Amy; Vasa, Roma A.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Shui, Amy] MassGen Hosp Children, MGH Biostat Ctr, Boston, MA 02114 USA.
[Vasa, Roma A.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21287 USA.
RP Mazurek, MO (reprint author), Univ Missouri, Dept Hlth Psychol, 205 Portland St, Columbia, MO 65211 USA.
EM mazurekm@missouri.edu; keefer@kennedykrieger.org; ashui@mgh.harvard.edu;
vasa@kennedykrieger.org
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Wechsler D., 2002, WECHSLER PRESCHOOL P, V3rd
Wechsler D, 1999, WECHSLER ABBREVIATED
White SW, 2009, CLIN PSYCHOL REV, V29, P216, DOI 10.1016/j.cpr.2009.01.003
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NR 57
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 NOV
PY 2014
VL 8
IS 11
BP 1508
EP 1515
DI 10.1016/j.rasd.2014.07.018
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100008
ER
PT J
AU Hastings, RP
Petalas, MA
Jones, L
Totsika, V
AF Hastings, Richard P.
Petalas, Michael A.
Jones, Leah
Totsika, Vasiliki
TI Systems analysis of associations over time between maternal and sibling
well-being and behavioral and emotional problems of children with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Siblings; Mothers; Behavior problems; Maternal depression; Strengths and
Difficulties Questionnaire; Longitudinal design
ID SPECTRUM DISORDERS; MENTAL-HEALTH; INTELLECTUAL DISABILITY; STRESS;
ADJUSTMENT; ADOLESCENTS; DEPRESSION; FAMILIES; FATHERS; MOTHERS
AB Taking a family systems perspective, several research studies have shown that the family context (especially maternal well-being) predicts psychological adjustment in children with autism. This work has mainly focused on dyadic relationships in the family (especially parent-child reciprocal effects). In the present study, we extended a systems perspective in autism family research to a triad involving the child with autism, their mother, and a sibling, and also adopted a longitudinal design. Mothers from 60 families of children with autism reported on their own depression, and the behavior problems and pro-social behavior of their child with autism and a sibling. Results from longitudinal regression models suggested that earlier levels of maternal depression and sibling pro-social behavior did not have an independent effect on the behavior problems or pro-social behavior of children with autism 2.5-3 years later. Earlier levels of sibling behavior problems were associated with increased behavior problems of the child with autism 2.5-3 years later. Although replication is required, these are the first data to suggest that outcomes for children with autism may be affected by their siblings' psychological adjustment. The methodology of longitudinal family systems analysis of triadic relationships has important research and practical implications. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hastings, Richard P.; Totsika, Vasiliki] Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
[Jones, Leah] Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
RP Hastings, RP (reprint author), Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
EM R.Hastings@warwick.ac.uk
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
CR Baker JK, 2011, J FAM PSYCHOL, V25, P601, DOI 10.1037/a0024409
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Hastings R. P., CHILD CARE IN PRESS
Hastings RP, 2003, J INTELL DISABIL RES, V47, P231, DOI 10.1046/j.1365-2788.2003.00485.x
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Petalas MA, 2012, RES AUTISM SPECT DIS, V6, P546, DOI 10.1016/j.rasd.2011.07.015
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Seligman M., 2009, ORDINARY FAMILIES SP
Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x
Totsika V, 2013, AUTISM RES, V6, P201, DOI 10.1002/aur.1279
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1516
EP 1520
DI 10.1016/j.rasd.2014.07.012
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100009
ER
PT J
AU Romano, M
Truzoli, R
Osborne, LA
Reed, P
AF Romano, Michela
Truzoli, Roberto
Osborne, Lisa A.
Reed, Phil
TI The relationship between autism quotient, anxiety, and internet
addiction
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Internet addiction; Autism; Depression; Anxiety
ID SPECTRUM QUOTIENT; COLLEGE-STUDENTS; PHENOTYPE; DEPRESSION; DISORDERS;
PARENTS; AQ; CHILDREN
AB This study investigated internet addiction across the broad autism phenotype, and assessed the degree to which internet addiction in individuals with higher autism quotient scores may be mediated by co-morbid depression and anxiety. Ninety participants were given a range of psychometric assessments to determine their level of problematic internet usage (Internet Addiction Test), autism traits (Autism Quotient Scale), depression (Beck Depression Inventory), and anxiety (Speilberger Trait Anxiety Scale). Significant associations were found between both autism, and anxiety, and internet addiction. However, the association between autism traits and internet addiction was moderited by high level for anxiety, such that individuals with high numbers of autism traits showed less evidence of internet addiction if they also displayed high levels of anxiety. It is suggested that the presence of anxiety in these individuals alters the function that internet behavior serves, and makes internet addiction less likely. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Romano, Michela; Truzoli, Roberto] Univ Milan, I-20122 Milan, Italy.
[Reed, Phil] Swansea Univ, Swansea SA2 8PP, W Glam, Wales.
RP Reed, P (reprint author), Swansea Univ, Dept Psychol, Singleton Pk, Swansea SA2 8PP, W Glam, Wales.
EM P.Reed@swansea.ac.uk
CR Anderson KJ, 2001, J AM COLL HEALTH, V50, P21
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Reed P, 2011, PERS INDIV DIFFER, V51, P732, DOI 10.1016/j.paid.2011.06.016
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Young KS, 1998, CAUGHT NET
NR 41
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1521
EP 1526
DI 10.1016/j.rasd.2014.08.002
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100010
ER
PT J
AU Keefer, AJ
Kalb, L
Mazurek, MO
Kanne, SM
Freedman, B
Vasa, RA
AF Keefer, A. J.
Kalb, L.
Mazurek, M. O.
Kanne, S. M.
Freedman, B.
Vasa, R. A.
TI Methodological considerations when assessing restricted and repetitive
behaviors and aggression
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Aggression; Repetitive behavior; Methodology
ID AUTISM SPECTRUM DISORDERS; CHALLENGING BEHAVIORS; INTELLECTUAL
DISABILITIES; PHYSICAL AGGRESSION; YOUNG-CHILDREN; REPORT FORM; SCALE;
ADOLESCENTS; VALIDATION; CHECKLIST
AB Methodological issues impacting the relationship between aggression and restricted, repetitive, and stereotyped behaviors and interests (RRSBI) were examined in 2648 children and adolescents with autism spectrum disorders (ASD) using a multi-method, multi-informant analysis model to assess the effects of informant, assessment method, and aggression phenotype. Overall, a significant, but small relationship was found between RRSBI and aggression (p < .05). There was significant heterogeneity of estimates with large effect sizes observed when utilizing teacher report and a broad phenotype of aggression. Variance in estimates was attributed to differences in informant and assessment method with two times greater effect attributed to informant. Results suggest strategies to optimize future investigations of the relationship between RRSBI and aggression. Findings also provide the opportunity for the development of targeted interventions for aggression in youth with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Keefer, A. J.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Kalb, L.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA.
[Mazurek, M. O.; Kanne, S. M.] Univ Missouri, Dept Hlth Psychol, Columbia, MO 65211 USA.
[Mazurek, M. O.; Kanne, S. M.] Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA.
[Freedman, B.] Univ Delaware, Ctr Disabil Studies, Newark, DE 19716 USA.
[Vasa, R. A.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Ctr Autism & Related Disorders,Kennedy Krieger In, Baltimore, MD 21211 USA.
RP Keefer, AJ (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM keefer@kennedykrieger.org
CR Achenbach TM, 2001, MANUAL ASEBA PRESCHO
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White P, 2011, RES AUTISM SPECT DIS, V5, P784, DOI 10.1016/j.rasd.2010.09.006
YUDOFSKY SC, 1986, AM J PSYCHIAT, V143, P35
NR 43
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 NOV
PY 2014
VL 8
IS 11
BP 1527
EP 1534
DI 10.1016/j.rasd.2014.07.019
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100011
ER
PT J
AU Ruiz-Robledillo, N
Moya-Albiol, L
AF Ruiz-Robledillo, N.
Moya-Albiol, L.
TI Emotional intelligence modulates cortisol awakening response and
self-reported health in caregivers of people with autism spectrum
disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Emotional intelligence; Caregivers; Autism spectrum disorders; Health;
Cortisol awakening response
ID META-MOOD SCALE; SALIVARY CORTISOL; SOCIAL SUPPORT; STRESS; VERSION;
PREDICTORS; CHILDREN; QUESTIONNAIRE; ENDOCRINE; VALIDITY
AB Caring for people with autism spectrum disorders (ASDs) has negative consequences for caregivers' health. Specifically, caregivers of people with ASDs have been observed to have more somatic symptoms, poorer self-perceived general health, poorer social functioning and altered immune and endocrine systems. Various positive variables including emotional intelligence (El) have been found to protect health in several populations, but no studies have previously analyzed the effect of El in caregivers of people with ASDs. The present study aimed to analyze the association of the three components of El (attention, clarity and repair) with self-reported health and cortisol awakening response (CAR) in caregivers of offspring with ASD. Attention was negatively associated and clarity positively associated with self-reported health. Clarity and repair were associated with a lower magnitude of CAR, estimated by the area under the curve with respect to ground (AUCg). Moreover, CAR AUCg was a mediator in the association of clarity and repair with self-perceived general health. These results confirm that El components have different effects on health in caregivers of people with ASDs. El should be included as a target of interventions to improve health in this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ruiz-Robledillo, N.; Moya-Albiol, L.] Univ Valencia, Fac Psychol, Dept Psychobiol, Valencia 46010, Spain.
RP Moya-Albiol, L (reprint author), Univ Valencia, Fac Psychol, Dept Psychobiol, Ave Blasco Ibanez 21, Valencia 46010, Spain.
EM Nicolas.Ruiz@uv.es; Luis.Moya@uv.es
CR Barker ET, 2011, DEV PSYCHOL, V47, P551, DOI 10.1037/a0021268
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NR 34
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 NOV
PY 2014
VL 8
IS 11
BP 1535
EP 1543
DI 10.1016/j.rasd.2014.08.003
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100012
ER
PT J
AU Chien, SHL
Wang, LH
Chen, CC
Chen, TY
Chen, HS
AF Chien, Sarina Hui-Lin
Wang, Liang-Huei
Chen, Chien-Chung
Chen, Tzu-Yun
Chen, Hsin-Shui
TI Autistic children do not exhibit an own-race advantage as compared to
typically developing children
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Face processing; Other-race effect; Own-race advantage
ID FACE RECOGNITION; SPECTRUM DISORDERS; EYE CONTACT; GAZE; EXPERIENCE;
LOOKING; ABILITY; MEMORY; BIAS
AB The characteristics of aberrant face processing in individuals with autism spectrum disorder (ASD) have been extensively studied, but the aspect regarding sensitivity to race is relatively unexplored. The present study hypothesized that the magnitude of the other-race effect shall be reduced in individuals with ASD owing to their inattention to faces since infancy. Using a sequential face discrimination task, we tested the other-race effect of 18 ASD (mean age = 7.5 years) and 13 age-matched typically developing (TD) children (mean age = 7.6 years). The stimuli were cropped Asian and African faces, each with four levels of difficulty: easy (change identity), medium (replaced eyes), hard-eye (widen eye spacing), and hard-mouth (moved up mouth). The TD children showed a significant own-race advantage such that the best performance was found in the Asian easy condition. The ASD children did not exhibit such advantage at all. Moreover, ASD children showed the highest error rates in the hard-eye condition instead of the hard-mouth condition, indicating insensitivity to eyes region. In sum, our findings support the hypothesis that the other-race effect is reduced in ASD children, reflecting an incomplete development of an expert face system. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Chien, Sarina Hui-Lin; Wang, Liang-Huei] China Med Univ, Grad Inst Neural & Cognit Sci, Taichung 40402, Taiwan.
[Wang, Liang-Huei; Chen, Tzu-Yun; Chen, Hsin-Shui] China Med Univ, Bei Gang Hosp, Dept Phys Med & Rehabil, Yunlin, Taiwan.
[Chen, Chien-Chung] Natl Taiwan Univ, Dept Psychol, Taipei 10764, Taiwan.
RP Chien, SHL (reprint author), China Med Univ, Coll Life Sci, Grad Inst Neural & Cognit Sci, 91 Hsueh Shih Rd, Taichung 40402, Taiwan.
EM sarinachien@mail.cmu.edu.tw
RI Chen, HsinShui/C-7898-2015
CR American Psychiatric Association, 2006, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 39
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD NOV
PY 2014
VL 8
IS 11
BP 1544
EP 1551
DI 10.1016/j.rasd.2014.08.005
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100013
ER
PT J
AU Goldin, RL
Matson, JL
Cervantes, PE
AF Goldin, Rachel L.
Matson, Johnny L.
Cervantes, Paige E.
TI The effect of intellectual disability on the presence of comorbid
symptoms in children and adolescents with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Intellectual disability; Comorbid symptoms;
Autism Spectrum Disorders-Comorbidity for Children (ASD-C-C)
ID SEVERE RETARDATION MESSIER; II DASH-II; MENTAL-RETARDATION; MATSON
EVALUATION; PSYCHIATRIC-DISORDERS; DIAGNOSTIC-ASSESSMENT; SOCIAL-SKILLS;
DSM-IV; PSYCHOPATHOLOGY; INDIVIDUALS
AB Research is limited in examining the presence of comorbid symptoms in children and adolescents with autism spectrum disorder (ASD) and co-occurring intellectual disability (ID). The current study aimed to expand knowledge in this area by evaluating the presence of comorbid symptoms in children and adolescents with ASD, compared to those with ASD and ID. Comorbid symptoms examined using the Autism Spectrum Disorders-Comorbidity for Children (ASD-C-C) included tantrum behavior, repetitive behavior, worry/depression, avoidant behavior, under-eating, conduct problems, and over-eating. Two hundred and nineteen children and adolescents ranging from 3 to 16 years of age participated in the study. Significant differences were not found between the groups on any of the comorbid symptoms measured. The implications of these findings on treatment are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Goldin, Rachel L.; Matson, Johnny L.; Cervantes, Paige E.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgold3@lsu.edu
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NR 44
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 NOV
PY 2014
VL 8
IS 11
BP 1552
EP 1556
DI 10.1016/j.rasd.2014.08.006
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100014
ER
PT J
AU Brian, AJ
Roncadin, C
Duku, E
Bryson, SE
Smith, IM
Roberts, W
Szatmari, P
Drmic, I
Zwaigenbaum, L
AF Brian, A. Jessica
Roncadin, C.
Duku, E.
Bryson, S. E.
Smith, I. M.
Roberts, W.
Szatmari, P.
Drmic, I.
Zwaigenbaum, L.
TI Emerging cognitive profiles in high-risk infants with and without autism
spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE High-risk siblings; Cognitive development; Infants; Toddlers;
Developmental trajectories; ASD
ID PERVASIVE DEVELOPMENTAL DISORDERS; SIBLINGS RESEARCH CONSORTIUM;
UNAFFECTED SIBLINGS; BABY SIBLINGS; YOUNG-CHILDREN; AGE; STABILITY;
COMMUNICATION; REGRESSION; IQ
AB This paper examined early developmental trajectories in a large, longitudinal sample at high-risk for ASD ('HR') and low-risk ('LR') controls, and the association of trajectories with 3-year diagnosis. Developmental assessments were conducted at 6, 12, 24 months, and 3 years, with blinded "clinical best-estimate" expert diagnosis at age 3. HR infants were enrolled based only on familial risk. LR infants, from community sources, had no first- or second-degree ASD relatives. All infants were born at 36-42 weeks, weighing >= 2500 g, with no identifiable neurological, genetic, or severe sensory/motor disorders. Analytic phase I: semi-parametric group-based modeling to identify distinct developmental trajectories (n = 680; 487 HR; 193 LR); phase II: Trajectory membership in relation to 3-year diagnosis (n = 424; 310 HR; 114 LR). Three distinct trajectories emerged (1) inclining; (2) stable-average; (3) declining; trajectory membership predicted diagnosis (chi(2) = 99.40; p < .001). Most ASD cases were in stable-average (50.6%) or declining trajectories (33.8%); most non-ASD-HR infants were in inclining (51.9%) or stable-average (40.3%) trajectories. The majority of LR controls were in the inclining trajectory (78.9%). Within the declining trajectory, over half had ASD (57.8%), but 40% were non-ASD-HR infants. Declining/plateauing raw scores were associated with, but not exclusive to, ASD. Findings underscore the importance of monitoring the emergence of ASD symptoms and overall development in high-risk children. Evidence of developmental slowing or decline may be associated not only with ASD, but with other suboptimal outcomes, warranting careful clinical follow-up. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Brian, A. Jessica] Univ Toronto, Dept Paediat, Holland Bloorview Kids Rehabil Hosp, Autism Res Ctr, Toronto, ON M4G 1R8, Canada.
[Brian, A. Jessica] Univ Toronto, Sch Grad Studies, ARU, SickKids, Toronto, ON M4G 1R8, Canada.
[Roncadin, C.] Autism Serv, Kinark Child Serv, Markham, ON, Canada.
[Roncadin, C.] Autism Serv, Kinark Family Serv, Markham, ON, Canada.
[Roncadin, C.] Univ Toronto, Sch Grad Studies, Toronto, ON M4G 1R8, Canada.
[Duku, E.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON, Canada.
[Bryson, S. E.; Smith, I. M.] Dalhousie Univ, IWK Hlth Ctr, Halifax, NS, Canada.
[Roberts, W.] Univ Toronto, Autism Res Unit SickKids, Toronto, ON M4G 1R8, Canada.
[Roberts, W.] Univ Toronto, Dept Paediat, Toronto, ON M4G 1R8, Canada.
[Szatmari, P.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Szatmari, P.] Ctr Addict & Mental Hlth Toronto, Toronto, ON, Canada.
[Drmic, I.] ARU SickKids & Holland Bloorview, Toronto, ON, Canada.
[Zwaigenbaum, L.] Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp, Autism Res Ctr, Edmonton, AB, Canada.
RP Brian, AJ (reprint author), Univ Toronto, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM jbrian@hollandbloorview.ca; caroline.roncadin@kinark.on.ca;
Duku@mcmaster.ca; Susan.bryson@iwk.nshealth.ca;
Isabel.smith@iwk.nshealth.ca; Wendy.roberts@sickkids.ca;
peter.szatmari@utoronto.ca; idrmic@hollandbloorview.ca;
lonnie.zwaigenbaum@albertahealthservices.ca
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NR 54
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 NOV
PY 2014
VL 8
IS 11
BP 1557
EP 1566
DI 10.1016/j.rasd.2014.07.021
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100015
ER
PT J
AU Yeung, MK
Han, YMY
Sze, SL
Chan, AS
AF Yeung, Michael K.
Han, Yvonne M. Y.
Sze, Sophia L.
Chan, Agnes S.
TI Altered right frontal cortical connectivity during facial emotion
recognition in children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Facial emotion; Social; Connectivity; Theta;
Coherence
ID HIGH-FUNCTIONING ADULTS; ASPERGER-SYNDROME; SUSTAINED ATTENTION;
PREFRONTAL CORTEX; EEG COHERENCE; THETA OSCILLATIONS; NEURAL CIRCUITRY;
BASIC EMOTIONS; EXPRESSIONS; FACES
AB A growing body of evidence suggests that autism spectrum disorders (ASD) is associated with altered functional connectivity of the brain and with impairment in recognizing others' emotions. To better understand the relationships among these neural and behavioral abnormalities, we examined cortical connectivity which was indicated by theta coherence during tasks of facial emotion recognition in 18 children with ASD and 18 typically developing (TD) children who were between 6 and 18 years of age. We found that the children with ASD had general impairment in recognizing facial emotions, after controlling for response bias. Additionally, we found that the TO children demonstrated significant modulation of right frontal theta coherence in response to emotional faces compared to neutral faces, whereas children with ASD did not exhibit any modulation of theta coherence. The extent of modulation of theta coherence to emotions was further found to be related to the severity of social impairments in ASD. Our findings of a general impairment in facial emotion recognition and the involvement of disordered cortical connectivity in social deficits in children with ASD have shed light for future exploration of interventions regarding emotional processing and social functioning in ASD. (C) 2014 Published by Elsevier Ltd.
C1 [Yeung, Michael K.; Sze, Sophia L.; Chan, Agnes S.] Chinese Univ Hong Kong, Dept Psychol, Neuropsychol Lab, Shatin, Hong Kong, Peoples R China.
[Han, Yvonne M. Y.] Hong Kong Inst Educ, Dept Special Educ & Counselling, Tai Po, Hong Kong, Peoples R China.
RP Chan, AS (reprint author), Chinese Univ Hong Kong, Dept Psychol, Shatin, Hong Kong, Peoples R China.
EM mkcyeung@psy.cuhk.edu.hk; ymyhan@ied.edu.hk; lmsze@psy.cuhk.edu.hk;
aschan@psy.cuhk.edu.hk
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NR 75
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 NOV
PY 2014
VL 8
IS 11
BP 1567
EP 1577
DI 10.1016/j.rasd.2014.08.013
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100016
ER
PT J
AU Matson, JL
Konst, MJ
AF Matson, Johnny L.
Konst, Matthew J.
TI Early intervention for autism: Who provides treatment and in what
settings
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Early intervention; Parents; Applied behavior analysis;
Treatment
ID INTENSIVE BEHAVIORAL INTERVENTION; PROFOUND MENTAL-RETARDATION; II
DASH-II; PERVASIVE DEVELOPMENTAL DISORDER; CHILDREN ASD-DC; SPECTRUM
DISORDERS; YOUNG-CHILDREN; SOCIAL-SKILLS; INTELLECTUAL DISABILITY;
DIAGNOSTIC-ASSESSMENT
AB Early intensive interventions have become popular. Thus, not surprisingly, the amount of research surrounding this topic has increased and evolved rapidly. The persons providing treatment, the settings in which treatment is provided, and the methods used have varied considerably. This paper reviews current trends. For example, 20-40 h of therapy weekly has consistently characterized the literature. Conversely, the role of parents has transformed as they have increasingly become co-therapists. One major concern is that little effort has been put into the transition from these intensive programs to educational settings. These factors and related parameters are reviewed and the implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), LSU, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 77
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 NOV
PY 2014
VL 8
IS 11
BP 1585
EP 1590
DI 10.1016/j.rasd.2014.08.007
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100018
ER
PT J
AU Shih, CH
Chang, ML
Wang, SH
Tseng, CL
AF Shih, Ching-Hsiang
Chang, Man-Ling
Wang, Shu-Hui
Tseng, Chang-Lu
TI Assisting students with autism to actively perform collaborative walking
activity with their peers using dance pads combined with preferred
environmental stimulation
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; FPPDP; Dance pad; Collaborative walking activity
ID SOCIAL-SKILLS; CHILDREN
AB The purpose of this study was to provide students with autism spectrum disorders (ASDs) the opportunity to cooperate with their peers. This experiment was designed so that students with ASD and their partners were required to perform the collaborative walking activity using dance pads combined with preferred stimulation. With the foot-pressing position detection program (FPPDP) software, standard dance pads could be used as foot-pressing position detectors to detect participants' collaborative walking activities. An ABAB design was adopted in this experiment, where A represented baseline phases, and B represented intervention phases. The experimental results show that the participants increased their willingness to perform the assigned task and the actual amount of collaborative walking activity also increased during the intervention phases compared to the baseline phases. Practical and developmental implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shih, Ching-Hsiang; Wang, Shu-Hui; Tseng, Chang-Lu] Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
[Chang, Man-Ling] Natl Taiwan Normal Univ, Dept Special Educ, Taipei, Taiwan.
RP Shih, CH (reprint author), Natl Dong Hwa Univ, Dept Special Educ, Hualien 970, Taiwan.
EM schee@mail.ndhu.edu.tw
CR Chung KM, 2007, RES DEV DISABIL, V28, P423, DOI 10.1016/j.ridd.2006.05.002
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Sperry L, 2010, PREVENTING SCH FAILU, V54, P256
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NR 11
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 NOV
PY 2014
VL 8
IS 11
BP 1591
EP 1596
DI 10.1016/j.rasd.2014.08.011
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100019
ER
PT J
AU Dixon, MR
Belisle, J
Whiting, SW
Rowsey, KE
AF Dixon, Mark R.
Belisle, Jordan
Whiting, Seth W.
Rowsey, Kyle E.
TI Normative sample of the PEAK relational training system: Direct training
module and subsequent comparisons to individuals with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE PEAK; Language; Cognition; Autism; Normative data
ID SKINNERS VERBAL-BEHAVIOR; CHILDREN; INTELLIGENCE
AB The present data provide a normative sample of the PEAK: direct training module assessment and a subsequent comparison to individuals with autism. Altogether, 206 typically developing participants and 94 participants with autism took part in the study. For the normative sample, there was a strong relationship between PEAK total score and age (r = .659, p < .01), and a cubic regression provided a strong fit for the data (R-2 = .821, t = 18.51, p < .01). The results from the autism sample suggest that there was no significant correlation between PEAK total score and age (r = .021, p = .861), and that PEAK total scores for the autism group were significantly lower than the normative sample (t(275) = 10.63, p < .001). The data suggest that PEAK may be especially useful as an assessment and curriculum guide for individuals with autism, and future research should be conducted on the increasingly complex topographies of human language and cognition that PEAK affords clinicians. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Dixon, Mark R.; Belisle, Jordan; Whiting, Seth W.; Rowsey, Kyle E.] So Illinois Univ, Carbondale, IL 62901 USA.
RP Dixon, MR (reprint author), So Illinois Univ, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR Brown-Chidsey R., 2004, ENCY SCH PSYCHOL, P96
Dixon M. R., 2014, PEAK RELATIONAL TRAI
Dixon M. R., 2014, J DEV PHYS DISABILIT
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NR 23
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 NOV
PY 2014
VL 8
IS 11
BP 1597
EP 1606
DI 10.1016/j.rasd.2014.07.020
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100020
ER
PT J
AU Walenski, M
Mostofsky, SH
Ullman, MT
AF Walenski, Matthew
Mostofsky, Stewart H.
Ullman, Michael T.
TI Inflectional morphology in high-functioning autism: Evidence for speeded
grammatical processing
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Language; Morphology; Past tense; Procedural memory;
Basal-ganglia
ID PERVASIVE DEVELOPMENTAL DISORDERS; PAST-TENSE MORPHOLOGY; LANGUAGE
IMPAIRMENT; SPECTRUM DISORDERS; DECLARATIVE/PROCEDURAL MODEL; SENTENCE
COMPREHENSION; TOURETTES-SYNDROME; ASPERGER-SYNDROME; VERB MORPHOLOGY;
BASAL GANGLIA
AB Autism is characterized by language and communication deficits. We investigated grammatical and lexical processes in high-functioning autism by contrasting the production of regular and irregular past-tense forms. Boys with autism and typically developing control boys did not differ in accuracy or error rates. However, boys with autism were significantly faster than controls at producing rule-governed past-tenses (slip-slipped, plim-plimmed, bring-bringed), though not lexically dependent past-tenses (bring-brought, squeeze-squeezed, splim-splam). This pattern mirrors previous findings from Tourette syndrome attributed to abnormalities of frontal/basal-ganglia circuits that underlie grammar. We suggest a similar abnormality underlying language in autism. Importantly, even when children with autism show apparently normal language (e.g., in accuracy or with diagnostic instruments), processes and/or brain structures subserving language may be atypical in the disorder. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Walenski, Matthew] San Diego State Univ, San Diego, CA 92120 USA.
[Mostofsky, Stewart H.] Kennedy Krieger Inst, Baltimore, MD USA.
[Mostofsky, Stewart H.] Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA.
[Ullman, Michael T.] Georgetown Univ, Washington, DC 20057 USA.
RP Walenski, M (reprint author), San Diego State Univ, Language & Neurosci Grp, 6505 Alvarado Rd,Suite 204, San Diego, CA 92120 USA.
EM mwalenski@ucsd.edu
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NR 96
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 NOV
PY 2014
VL 8
IS 11
BP 1607
EP 1621
DI 10.1016/j.rasd.2014.08.009
PG 15
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AR1RK
UT WOS:000343362100021
ER
PT J
AU Drake, JE
AF Drake, Jennifer E.
TI Knowing how to look predicts the ability to draw realistically
SO BRITISH JOURNAL OF DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE perceptual abilities; graphic representation; giftedness; visual arts
ID SPATIAL AXES SYSTEMS; VARYING COMPLEXITY; CHILDRENS DRAWINGS; SIZE
MODIFICATION; HUMAN FIGURE; OBJECTS; AUTISM; CUBES
AB Some young children are able to create stunningly realistic drawings resembling those of adult artists. What perceptual abilities underlie this talent? This study examined two candidate skills on which adult artists excel: the ability to segment a complex form mentally (measured by the Block Design Task) and the ability to see hidden forms (measured by the Group Embedded Figures Test). Sixty-seven 6- to 13-year-olds with a wide range of drawing abilities completed these tasks as well as an IQ test and an observational drawing task. While children who scored high on drawing realism outperformed those who scored low in drawing realism on both perceptual tasks, only detection of embedded figures predicted drawing realism. This occurred independently of age, gender, years of training, and verbal and non-verbal IQ. There are certainly many contributors to this complex ability, but one component appears to be the tendency to see things more as they really are and thereby recognize the continuous contour of an object despite interference from other overlapping objects.
C1 [Drake, Jennifer E.] CUNY Brooklyn Coll, Brooklyn, NY 11210 USA.
RP Drake, JE (reprint author), CUNY Brooklyn Coll, Dept Psychol, Brooklyn, NY 11210 USA.
EM jdrake@brooklyn.cuny.edu
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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 0261-510X
EI 2044-835X
J9 BRIT J DEV PSYCHOL
JI Br. J. Dev. Psychol.
PD NOV
PY 2014
VL 32
IS 4
BP 397
EP 414
DI 10.1111/bjdp.12048
PG 18
WC Psychology, Developmental
SC Psychology
GA AQ6DF
UT WOS:000342897700005
PM 24863053
ER
PT J
AU Klapper, A
Ramsey, R
Wigboldus, D
Cross, ES
AF Klapper, Andre
Ramsey, Richard
Wigboldus, Daniel
Cross, Emily S.
TI The Control of Automatic Imitation Based on Bottom-Up and Top-Down Cues
to Animacy: Insights from Brain and Behavior
SO JOURNAL OF COGNITIVE NEUROSCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; MIRROR-NEURON SYSTEM; SOCIAL COGNITION;
PSYCHOPHYSIOLOGICAL INTERACTIONS; ASPERGER-SYNDROME; MIMICRY;
COMPATIBILITY; INHIBITION; MODULATION; MIND
AB Humans automatically imitate other people's actions during social interactions, building rapport and social closeness in the process. Although the behavioral consequences and neural correlates of imitation have been studied extensively, little is known about the neural mechanisms that control imitative tendencies. For example, the degree to which an agent is perceived as human-like influences automatic imitation, but it is not known how perception of animacy influences brain circuits that control imitation. In the current fMRI study, we examined how the perception and belief of animacy influence the control of automatic imitation. Using an imitation-inhibition paradigm that involves suppressing the tendency to imitate an observed action, we manipulated both bottom-up (visual input) and top-down (belief) cues to animacy. Results show divergent patterns of behavioral and neural responses. Behavioral analyses show that automatic imitation is equivalent when one or both cues to animacy are present but reduces when both are absent. By contrast, right TPJ showed sensitivity to the presence of both animacy cues. Thus, we demonstrate that right TPJ is biologically tuned to control imitative tendencies when the observed agent both looks like and is believed to be human. The results suggest that right TPJ may be involved in a specialized capacity to control automatic imitation of human agents, rather than a universal process of conflict management, which would be more consistent with generalist theories of imitative control. Evidence for specialized neural circuitry that controls imitation offers new insight into developmental disorders that involve atypical processing of social information, such as autism spectrum disorders.
C1 [Klapper, Andre; Wigboldus, Daniel; Cross, Emily S.] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
[Ramsey, Richard; Cross, Emily S.] Bangor Univ, Bangor LL57 2AS, Gwynedd, Wales.
RP Ramsey, R (reprint author), Bangor Univ, Wales Inst Cognit Neurosci, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales.
EM r.ramsey@bangor.ac.uk; e.cross@bangor.ac.uk
FU Economic and Social Research Council [ES/K001884/1, ES/K001892/1];
Netherlands Organisation for Scientific Research (NWO) [451-11-002]
FX Funding from the Economic and Social Research Council in the form of
future research leader awards (ES/K001884/1 to R. R. and ES/K001892/1 to
E. S. C.) and the Netherlands Organisation for Scientific Research (NWO)
in the form of a Veni award (451-11-002 to E. S. C.) is gratefully
acknowledged.
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NR 50
TC 1
Z9 1
PU MIT PRESS
PI CAMBRIDGE
PA ONE ROGERS ST, CAMBRIDGE, MA 02142-1209 USA
SN 0898-929X
EI 1530-8898
J9 J COGNITIVE NEUROSCI
JI J. Cogn. Neurosci.
PD NOV
PY 2014
VL 26
IS 11
BP 2503
EP 2513
DI 10.1162/jocn_a_00651
PG 11
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ6FB
UT WOS:000342904200007
PM 24742157
ER
PT J
AU Barbalat, G
Leboyer, M
Zalla, T
AF Barbalat, Guillaume
Leboyer, Marion
Zalla, Tiziana
TI A specific impairment in cognitive control in individuals with
high-functioning autism
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Autism; Asperger syndrome; Executive functions; Cognitive control;
Cascade model; Episodic memory
ID LATERAL PREFRONTAL CORTEX; LONG-TERM-MEMORY; EPISODIC MEMORY; EXECUTIVE
FUNCTIONS; SPECTRUM DISORDERS; FRONTAL-LOBE; ASPERGER-SYNDROME;
SCHIZOPHRENIA; DAMAGE; PERFORMANCE
AB Although it is largely demonstrated that Autism Spectrum Disorders (ASDs) are characterized by executive dysfunctions, little is known about the fine-grained levels of this impairment. Here, we investigated the hierarchical architecture of control modules in autism using an experimental paradigm based upon a multistage model of executive functions. This model postulates that executive functions are hierarchically organized as a cascade of three different control processes, which are implemented according to information conveyed by sensory signals (sensory control), the immediate perceptual context (contextual control), and the temporal episode in which stimuli occur (episodic control). Sixteen high-functioning adults with autism or Asperger Syndrome (HFA/AS) and sixteen matched comparison participants took part in two distinct visuo motor association experiments designed to separately vary the demands of sensory and episodic controls (first experiment) and contextual and episodic controls (second experiment). Participants with HFA/AS demonstrated no significant differences in performances with comparison participants when they had to control sensory or contextual information. However, they showed decreased accuracy when having to control information related to episodic signals. Remarkably, performances in episodic control were associated to the autism spectrum quotient in both groups, suggesting that this episodic control impairment might be at the core of ASDs. Those results plead for a specific, rather than generalised, deficit in executive functions in autism. Our study contributes to a better understanding of the impaired cognitive processes that are unique to autism and warrants confirmation using other models of executive functions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Barbalat, Guillaume] Tunbridge Wells Hosp, Kent & Medway NHS & Social Care Partnership Trust, Tunbridge Wells TN2 4QJ, Kent, England.
[Leboyer, Marion] INSERM, IMRB, U 955, Creteil, France.
[Leboyer, Marion] Univ Paris Est Creteil, Henri Mondor Albert Chenevier Hosp, AP HP, Dept Psychiat,French Natl Sci Fdn, F-75231 Paris, France.
[Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Etude Cognit, UMR 8129, F-75231 Paris, France.
RP Barbalat, G (reprint author), Tunbridge Wells Hosp, Kent & Medway NHS & Social Care Partnership Trust, Tunbridge Wells TN2 4QJ, Kent, England.
EM guillaumebarbalat@gmail.com; tiziana.zalla@ens.fr
FU Fondation Fonda-Mental; Fondation Orange
FX The authors declare that the institutions (Fondation Fonda-Mental and
Fondation Orange) that supported research reported in the manuscript had
no involvement in the collection, analysis, interpretation of data, in
the writing of the report and in the decision to submit the paper for
publication. The authors confirm that they had full access to all the
data in the study and had final responsibility for the decision to
submit for publication.
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NR 49
TC 0
Z9 0
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 NOV
PY 2014
VL 58
BP 26
EP 35
DI 10.1016/j.jpsychires.2014.07.013
PG 10
WC Psychiatry
SC Psychiatry
GA AQ5RL
UT WOS:000342866200005
PM 25106070
ER
PT J
AU Sandbank, M
Yoder, P
AF Sandbank, Micheal
Yoder, Paul
TI Measuring Representative Communication in Young Children With
Developmental Delay
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE generalizability studies; decision studies; children; developmental
delay; communication
ID AUTISM
AB Generalizability and decision studies provide a mathematical framework for quantifying the stability of a given number of measurements. This approach is especially relevant to the task of obtaining a representative measure of communicative behavior in young children and supports an alternative to the debate regarding which type of assessment yields the most representative scores. The current article provides a report of a generalizability and decision study on 63 toddlers with developmental delay who were treated for 6 months using an intervention that targeted communication and vocabulary goals. Two variablesrate of intentional communication acts and rate of different wordswere measured across three assessment contexts at four communication sampling periods. Results verified that measurement stability increased with time and development for both variables, regardless of the type of assessment procedure used.
C1 [Sandbank, Micheal; Yoder, Paul] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Sandbank, M (reprint author), Vanderbilt Univ, Dept Special Educ, 110 Magnolia Circle,Off 414, Nashville, TN 37203 USA.
EM micheal.p.gmaz@vanderbilt.edu
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NR 21
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD NOV
PY 2014
VL 34
IS 3
BP 133
EP 141
DI 10.1177/0271121414528052
PG 9
WC Education, Special
SC Education & Educational Research
GA AQ5FE
UT WOS:000342831100002
ER
PT J
AU Dynia, JM
Lawton, K
Logan, JAR
Justice, LM
AF Dynia, Jaclyn M.
Lawton, Kathy
Logan, Jessica A. R.
Justice, Laura M.
TI Comparing Emergent-Literacy Skills and Home-Literacy Environment of
Children With Autism and Their Peers
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE autism spectrum disorder (ASD); disability populations; emergent
literacy; home environment
ID SPECTRUM DISORDERS; LANGUAGE IMPAIRMENT; READING-COMPREHENSION;
PRESCHOOL-CHILDREN; ORAL LANGUAGE; INTERVENTIONS; METAANALYSIS;
INDIVIDUALS; EXPERIENCES; ATTAINMENT
AB The purpose of the current study was to characterize and compare the emergent-literacy skills, print interest, and home-literacy environment of children with autism spectrum disorder (ASD) to their peers, as well as to examine the association between children's emergent-literacy skills and their home-literacy environment. Results indicated that children with ASD had significantly higher alphabet knowledge and significantly lower print-concept knowledge when controlling for language ability compared with their peers. Children with ASD also had significantly lower print interest than their typical peers. Moreover, print interest and frequency of storybook reading were related to children's alphabet knowledge. Clinical implications and areas for future research are discussed.
C1 [Dynia, Jaclyn M.; Lawton, Kathy; Logan, Jessica A. R.; Justice, Laura M.] Ohio State Univ, Columbus, OH 43201 USA.
RP Dynia, JM (reprint author), Ohio State Univ, Crane Ctr Early Childhood Res & Policy Educ, 220 Schoenbaum Family Ctr,175 East 7th Ave, Columbus, OH 43201 USA.
EM dynia.1@osu.edu
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NR 50
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0271-1214
EI 1538-4845
J9 TOP EARLY CHILD SPEC
JI Top. Early Child. Spec. Educ.
PD NOV
PY 2014
VL 34
IS 3
BP 142
EP 153
DI 10.1177/0271121414536784
PG 12
WC Education, Special
SC Education & Educational Research
GA AQ5FE
UT WOS:000342831100003
ER
PT J
AU Travers, JC
Krezmien, MP
Mulcahy, C
Tincani, M
AF Travers, Jason C.
Krezmien, Michael P.
Mulcahy, Candace
Tincani, Matthew
TI Racial Disparity in Administrative Autism Identification Across the
United States During 2000 and 2007
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE disproportionality; racial disparity; autism; disability prevalence
ID SPECTRUM DISORDER; PREVALENCE; CALIFORNIA; DIAGNOSIS; CHILDREN; RACE
AB Evidence of disparate identification of autism at national and local levels is accumulating, but there is little understanding about disparate identification of autism at the state level. This study examined trends in state-level administrative identification of autism under the Individuals with Disabilities Education Act. Prevalence rates and odds ratios were calculated for each state using enrollment counts for years 2000 and 2007. Results indicated increases in administrative prevalence of autism for all racial groups from 2000 to 2007, but increasing underidentification of Black and Hispanic students in 2007 compared with White students. Variability existed in the identification of autism among Black and Hispanic students across states over time. Implications for the findings are discussed in the context of the field's need to establish rigorous policies and practices for eligibility determinations due to autism and equitable access to evidence-based intervention practices.
C1 [Travers, Jason C.; Krezmien, Michael P.] Univ Massachusetts, Amherst, MA 01003 USA.
[Mulcahy, Candace] SUNY Binghamton, Binghamton, NY USA.
[Tincani, Matthew] Temple Univ, Philadelphia, PA 19122 USA.
RP Travers, JC (reprint author), Univ Massachusetts, 171 Hills South, Amherst, MA 01003 USA.
EM travers@educ.umass.edu
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NR 29
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD NOV
PY 2014
VL 48
IS 3
BP 155
EP 166
DI 10.1177/0022466912454014
PG 12
WC Education, Special
SC Education & Educational Research
GA AQ4DH
UT WOS:000342742000001
ER
PT J
AU Wei, X
Wagner, M
Christiano, ERA
Shattuck, P
Yu, JW
AF Wei, Xin
Wagner, Mary
Christiano, Elizabeth R. A.
Shattuck, Paul
Yu, Jennifer W.
TI Special Education Services Received by Students With Autism Spectrum
Disorders From Preschool Through High School
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism; special education; service; age; disability severity;
demographic characteristics
ID EARLY INTERVENTION; YOUNG-CHILDREN; AGE; SATISFACTION; PROGRAMS;
PARENTS; SAMPLE; YOUTH; CARE
AB Little is known about how special education services received by students with Autism Spectrum Disorders (ASDs) differ by age, disability severity, and demographic characteristics. Using three national data sets, the Pre-Elementary Education Longitudinal Study, the Special Education Elementary Longitudinal Study, and the National Longitudinal Transition Study-2, this study examined the age trends in special education services received by students with ASDs from preschool through high school. Elementary school students with ASDs had higher odds of receiving adaptive physical education, specialized computer software or hardware, and special transportation, but lower odds of receiving learning strategies/study skills support than their preschool peers. Secondary school students had lower odds of receiving speech/language or occupational therapy and of having a behavior management program, but higher odds of receiving mental health or social work services than their elementary school peers. Disability severity and demographic characteristics were associated with differences in special education service receipt rates.
C1 [Wei, Xin; Wagner, Mary; Christiano, Elizabeth R. A.; Yu, Jennifer W.] SRI Int, Menlo Pk, CA 94025 USA.
[Shattuck, Paul] Washington Univ, St Louis, MO USA.
RP Wei, X (reprint author), SRI Int, Ctr Educ & Human Serv, 333 Ravenswood Ave,BS169, Menlo Pk, CA 94025 USA.
EM xin.wei@sri.com
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NR 30
TC 2
Z9 2
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD NOV
PY 2014
VL 48
IS 3
BP 167
EP 179
DI 10.1177/0022466913483576
PG 13
WC Education, Special
SC Education & Educational Research
GA AQ4DH
UT WOS:000342742000002
ER
PT J
AU Connolly, JJ
Hakonarson, H
AF Connolly, John J.
Hakonarson, Hakon
TI Etiology of Autism Spectrum Disorder: A Genomics Perspective
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism; ASD; Autism spectrum disorder; Genomic; Genetic; Gene; GWAS;
Genome-wide association; CNV; Copy number variation; NGS;
Next-generation sequencing; SGS; Second-generation sequencing
ID COPY-NUMBER VARIATION; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; COMMON
GENETIC-VARIANTS; CHINESE HAN POPULATION; INTELLECTUAL-DISABILITY;
FAMILIAL RISK; ASSOCIATION ANALYSIS; MENTAL-RETARDATION; SCHIZOPHRENIA
AB In recent years, considerable progress has been made in understanding the genomic basis of autism spectrum disorder (ASD). Hundreds of variants have been proposed as predisposing to ASD, and the challenge now is to validate candidates and to understand how gene networks interact to produce ASD phenotypes. Genome-wide association and second-generation sequencing studies in particular have provided important indications about how to understand ASD on a molecular level, and we are beginning to see these experimental approaches translate into novel treatments and diagnostic tests. We review key studies in the field over the past five years and discuss some of the remaining technological and methodological challenges that remain.
C1 [Connolly, John J.; Hakonarson, Hakon] Childrens Hosp Philadelphia, Philadelphia CHOP, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Hakonarson, Hakon] Perelman Sch Med, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA.
[Hakonarson, Hakon] CHOP, Philadelphia, PA 19104 USA.
RP Connolly, JJ (reprint author), Childrens Hosp Philadelphia, Philadelphia CHOP, Ctr Appl Genom, Philadelphia, PA 19104 USA.
EM connollyj1@email.chop.edu; hakonarson@email.chop.edu
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NR 97
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 501
DI 10.1007/s11920-014-0501-9
PG 9
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800008
PM 25212713
ER
PT J
AU Escudero, I
Johnstone, M
AF Escudero, Irene
Johnstone, Mandy
TI Genetics of Schizophrenia
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Schizophrenia; Genetics; Copy number variants; Single nucleotide
polymorphisms; Common variants; Rare variants; Neurodevelopmental
disorders
ID GENOME-WIDE ASSOCIATION; BRAIN-DEVELOPMENT; BIPOLAR DISORDER;
ANIMAL-MODELS; RISK LOCI; MUTATIONS; DISC1; ENDOPHENOTYPE;
TRANSLOCATION; ARCHITECTURE
AB The genetic basis of schizophrenia has been a hotly debated research topic for decades, yet recent studies, especially in the past year, have confirmed genetics as the major cause of this complex condition. Psychiatry has come of age: it is perhaps more difficult for the current generation of psychiatrists, to comprehend how the biological root of the condition could have been denied for so long. Here we review how highly collaborative global efforts to pool samples, utilise the very latest advances in genotyping and high throughput sequencing technologies, and application of robust statistical analysis have reaped phenomenal rewards. The major findings are that schizophrenia is a highly polygenic disorder with a complex array of risk loci, many include genes implicated also in intellectual disability, autism spectrum disorders, bipolar disorder and major depressive disorder. These candidate genes converge on key neuronal signalling pathways identifying novel targets for potential future therapeutic intervention.
C1 [Escudero, Irene; Johnstone, Mandy] Univ Edinburgh, Inst Genet & Mol Med, Western Gen Hosp, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland.
[Johnstone, Mandy] Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Edinburgh EH10 5HF, Midlothian, Scotland.
RP Johnstone, M (reprint author), Univ Edinburgh, Royal Edinburgh Hosp, Div Psychiat, Morningside Terrace, Edinburgh EH10 5HF, Midlothian, Scotland.
EM mandy.johnstone@ed.ac.uk
FU EUROlife Scholarship from the University of Barcelona, Spain; Wellcome
Trust; Academy of Medical Sciences; RS Macdonald Charitable Trust
FX Irene Escudero is a Master's student on exchange at the University of
Edinburgh funded by a EUROlife Scholarship from the University of
Barcelona, Spain. Mandy Johnstone is a PI at the CGEM and is supported
by a Wellcome Trust Postdoctoral Clinical Fellowship. This work has also
been funded by a starter grant from the Academy of Medical Sciences (to
Mandy Johnstone) and a grant from the RS Macdonald Charitable Trust (to
Mandy Johnstone).
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NR 44
TC 1
Z9 1
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 502
DI 10.1007/s11920-014-0502-8
PG 6
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800009
PM 25200985
ER
PT J
AU Kasari, C
Shire, S
Factor, R
McCracken, C
AF Kasari, Connie
Shire, Stephanie
Factor, Reina
McCracken, Caitlin
TI Psychosocial Treatments for Individuals with Autism Spectrum Disorder
Across the Lifespan: New Developments and Underlying Mechanisms
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism spectrum disorder; Social skills; Social interventions; Joint
attention/joint engagement; Peer interactions; Social impairment
ID RANDOMIZED CONTROLLED-TRIAL; HIGH-FUNCTIONING AUTISM; ANIMAL-ASSISTED
ACTIVITIES; PIVOTAL RESPONSE TREATMENT; HIGH-SCHOOL-STUDENTS; JOINT
ATTENTION; YOUNG-CHILDREN; SOCIAL-SKILLS; TEACHING-CHILDREN;
SPECIAL-EDUCATION
AB Researchers have studied many interventions to address the core impairment in social interactions in autism spectrum disorder. We reviewed the social skills intervention literature over the past two years (20122014). Social skills intervention studies have increased by 35 % over our previous review of 2010-2012. Nearly equal numbers of studies reported results using single subject research designs (n=29) and group designs (n=25). Consistent with our previous review, many studies focused on joint attention/joint engagement for young children and interventions addressing peer interactions for older children. Advancements in this review period included more replications of intervention models, longitudinal outcomes, and a focus on minimally verbal children. Notably absent are social interventions for adults, and interventions addressing school-based inclusion. In addition to these target areas, future studies should isolate active ingredients of social interventions, include broader participant representation, and further examine the relation between neural development and behavioral outcomes.
C1 [Kasari, Connie; Shire, Stephanie; Factor, Reina; McCracken, Caitlin] UCLA Ctr Autism Res & Treatment, Los Angeles, CA 90024 USA.
RP Kasari, C (reprint author), UCLA Ctr Autism Res & Treatment, 760 Westwood Plaza, Los Angeles, CA 90024 USA.
EM kasari@gseis.ucla.edu; Spatterson@mednet.ucla.edu;
Rfactor@mednet.ucla.edu; Cmccracken@mednet.ucla.edu
FU Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services [UA3 MC 11055
AIR-B]
FX This research was supported by grant UA3 MC 11055 AIR-B from the
Maternal and Child Health Research Program, Maternal and Child Health
Bureau (Combating Autism Act Initiative), Health Resources and Services
Administration, Department of Health and Human Services.
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NR 82
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 512
DI 10.1007/s11920-014-0512-6
PG 12
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800019
PM 25248342
ER
PT J
AU Yerys, BE
Herrington, JD
AF Yerys, Benjamin E.
Herrington, John D.
TI Multimodal Imaging in Autism: an Early Review of Comprehensive Neural
Circuit Characterization
SO CURRENT PSYCHIATRY REPORTS
LA English
DT Article
DE Autism spectrum disorder; Multimodal imaging; Connectivity; Graph
theory; Brain
ID VOXEL-BASED MORPHOMETRY; SPECTRUM DISORDERS; WHITE-MATTER; FUNCTIONAL
CONNECTIVITY; EXECUTIVE FUNCTION; SOCIAL-PERCEPTION; BRAIN MECHANISMS;
FRONTAL-CORTEX; SURFACE-AREA; ADOLESCENTS
AB There is accumulating evidence that the neurobiology of autism spectrum disorders (ASD) is linked to atypical neural communication and connectivity. This body of work emphasizes the need to characterize the function of multiple regions that comprise neural circuits rather than focusing on singular regions as contributing to deficits in ASD. Multimodal neuroimaging-the formal combination of multiple functional and structural measures of the brain - is extremely promising as an approach to understanding neural deficits in ASD. This review provides an overview of the multimodal imaging approach, and then provides a snapshot of how multimodal imaging has been applied in the study of ASD to date. This body of work is separated into two categories: one concerning whole brain connectomics and the other focused on characterizing neural circuits implicated as altered in ASD. We end this review by highlighting emerging themes from the existing body of literature, and new resources that will likely influence future multimodal imaging studies.
C1 [Yerys, Benjamin E.; Herrington, John D.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Yerys, Benjamin E.; Herrington, John D.] Univ Penn, Dept Psychiat, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Yerys, BE (reprint author), Childrens Hosp Philadelphia, Ctr Autism Res, 3535 Market St,Ste 860, Philadelphia, PA 19104 USA.
EM YerysB@email.chop.edu; HerringtonJ@email.chop.edu
FU National Institutes of Health [K23MH086111, R21MH092615]; Intellectual
and Developmental Disabilities Research Center at the Children's
Hospital of Philadelphia [P30 HD02679]; Philadelphia Foundation; Shire
Pharmaceuticals
FX Benjamin E. Yerys is supported by two grants from the National
Institutes of Health (K23MH086111, R21MH092615) and an internal "New
Program Development Award" from the Intellectual and Developmental
Disabilities Research Center at the Children's Hospital of Philadelphia
(P30 HD02679), and the Philadelphia Foundation. John D. Herrington is
supported by a grant from Shire Pharmaceuticals. We thank Gregory L.
Wallace for feedback on a draft of this manuscript.
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NR 64
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1523-3812
EI 1535-1645
J9 CURR PSYCHIAT REP
JI Curr. Psychiatry Rep.
PD NOV
PY 2014
VL 16
IS 11
AR 496
DI 10.1007/s11920-014-0496-2
PG 10
WC Psychiatry
SC Psychiatry
GA AQ0AX
UT WOS:000342444800004
PM 25260934
ER
PT J
AU Altbacker, A
Plozer, E
Darnai, G
Perlaki, G
Orsi, G
Nagy, SA
Lucza, T
Schwarcz, A
Koszegi, T
Kovacs, N
Komoly, S
Janszky, J
Clemens, Z
AF Altbaecker, Anna
Plozer, Enikoe
Darnai, Gergely
Perlaki, Gabor
Orsi, Gergely
Nagy, Szilvia Anett
Lucza, Tivadar
Schwarcz, Attila
Koeszegi, Tamas
Kovacs, Norbert
Komoly, Samuel
Janszky, Jozsef
Clemens, Zsofia
TI Alexithymia is associated with low level of vitamin D in young healthy
adults
SO NUTRITIONAL NEUROSCIENCE
LA English
DT Article
DE Alexithymia; Vitamin D; Hypovitaminosis D; Emotional processing
ID MULTIPLE-SCLEROSIS; D DEFICIENCY; DISORDER; AUTISM; BRAIN; METAANALYSIS;
DEPRESSION; PREDICTS; EPILEPSY; TWINS
AB Objective: Vitamin D plays an important role in brain development and functioning. Low levels of vitamin D have been described in several psychiatric and neurologic conditions including autism spectrum disorder. Alexithymia that shows high comorbidity with autism is also present in the general population as well as hypovitaminosis D.
Methods: Here we assessed the relation between alexithymia as measured by the Toronto Alexithymia Scale-20 and vitamin D level in healthy young adults.
Results: We found an inverse correlation between the levels of alexithymia and vitamin D.
Discussion: These data suggest the association between disturbed emotional processing and low levels of vitamin D to be present in young healthy subjects.
C1 [Altbaecker, Anna; Plozer, Enikoe; Darnai, Gergely; Perlaki, Gabor; Orsi, Gergely; Kovacs, Norbert; Komoly, Samuel; Janszky, Jozsef; Clemens, Zsofia] Univ Pecs, Dept Neurol, H-7623 Pecs, Hungary.
[Perlaki, Gabor; Orsi, Gergely; Nagy, Szilvia Anett] Pecs Diagnost Ctr, Pecs, Hungary.
[Perlaki, Gabor; Orsi, Gergely; Schwarcz, Attila; Janszky, Jozsef] MTA PTE Clin Neurosci MR Res Grp, Pecs, Hungary.
[Lucza, Tivadar] Univ Pecs, Dept Behav Sci, H-7623 Pecs, Hungary.
[Schwarcz, Attila] Univ Pecs, Dept Neurosurg, H-7623 Pecs, Hungary.
[Koeszegi, Tamas] Univ Pecs, Inst Lab Med, H-7623 Pecs, Hungary.
[Clemens, Zsofia] Natl Inst Neurosci, Budapest, Hungary.
RP Altbacker, A (reprint author), Univ Pecs, Dept Neurol, Ret U 2, H-7623 Pecs, Hungary.
EM annaaltbacker@gmail.com
FU [SROP-4.2.1.B-10/2/KONV-2010-0002]; [SROP-4.2.2/A-11/1/KONV-2012-0017];
[PTE AOK-KA-2013/34039]; [OTKA-PD103964]
FX The authors declare that they have no conflict of interest. This work
was supported by Grants SROP-4.2.1.B-10/2/KONV-2010-0002,
SROP-4.2.2/A-11/1/KONV-2012-0017 and PTE AOK-KA-2013/34039. NK was
supported by a grant of OTKA-PD103964.
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NR 51
TC 1
Z9 1
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 1028-415X
EI 1476-8305
J9 NUTR NEUROSCI
JI Nutr. Neurosci.
PD NOV
PY 2014
VL 17
IS 6
BP 284
EP 288
DI 10.1179/1476830514Y.0000000114
PG 5
WC Neurosciences; Nutrition & Dietetics
SC Neurosciences & Neurology; Nutrition & Dietetics
GA AQ0XY
UT WOS:000342507200006
PM 24593042
ER
PT J
AU Causey, KB
Bjorklund, DF
AF Causey, Kayla B.
Bjorklund, David F.
TI Prospective memory in preschool children: Influences of agency,
incentive, and underlying cognitive mechanisms
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Prospective memory; Metacognition; Theory of mind; Executive
functioning; Preschool; Motivation
ID WORKING-MEMORY; RETRIEVAL-PROCESSES; SELF-PROJECTION; TIME; MIND;
FUTURE; PERFORMANCE; SIMULATION; AUTISM; ADULTS
AB Prospective memory (PM) is remembering to perform an action in the future and is crucial to achieving goal-directed activities in everyday life. Doing so requires that an intention is encoded, retained during a delay interval, and retrieved at the appropriate time of execution. We examined PM ability in preschool children by manipulating factors related to agency and incentive. We further explored how metacognition, executive functioning, and theory of mind factors known to account for individual differences in PM influenced performance on these PM tasks. A sample of 31 preschool children were asked to carry out a delayed intention or to remind an adult to carry out an intention that was of high or low incentive to the children. Findings indicated that individual differences in theory of mind were related to individual differences in preschoolers' performance on low-incentive PM tasks, independent of executive functioning contributions, whereas individual differences in executive functioning were related to performance on the high-incentive tasks. These findings suggest that changes in theory of mind and executive functioning are important to consider in models of PM and that different PM tasks (e.g., high vs. low incentive) may involve different cognitive requirements for young children. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Causey, Kayla B.; Bjorklund, David F.] Florida Atlantic Univ, Dept Psychol, Boca Raton, FL 33431 USA.
RP Causey, KB (reprint author), Calif State Univ Fullerton, Dept Psychol, Fullerton, CA 92834 USA.
EM kcausey@fullerton.edu
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NR 71
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD NOV
PY 2014
VL 127
SI SI
BP 36
EP 51
DI 10.1016/j.jecp.2014.01.020
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7SZ
UT WOS:000341554200004
PM 24813540
ER
PT J
AU Henry, JD
Terrett, G
Altgassen, M
Raponi-Saunders, S
Ballhausen, N
Schnitzspahn, KM
Rendell, PG
AF Henry, Julie D.
Terrett, Gill
Altgassen, Mareike
Raponi-Saunders, Sandra
Ballhausen, Nicola
Schnitzspahn, Katharina M.
Rendell, Peter G.
TI A Virtual Week study of prospective memory function in autism spectrum
disorders
SO JOURNAL OF EXPERIMENTAL CHILD PSYCHOLOGY
LA English
DT Article
DE Autism; Prospective memory; Functional capacity; Executive control
ID EXECUTIVE DYSFUNCTION; TASK DEMANDS; PERFORMANCE; AGE; CHILDREN;
PRESCHOOLERS; RETRIEVAL; INTENTION; SYMPTOMS; BEHAVIOR
AB Prospective memory (PM) refers to the implementation of delayed intentions, a cognitive ability that plays a critical role in daily life because of its involvement in goal-directed behavior and consequently the development and maintenance of independence. Emerging evidence indicates that PM may be disrupted in autism spectrum disorders (ASDs), potentially contributing to the functional difficulties that characterize this group. However, the degree, nature, and specificity of ASD-related impairment remains poorly understood. In the current study, children between 8 and 12 years of age who were diagnosed with ASDs (n = 30) were compared with typically developing children (n = 30) on a child-appropriate version of the Virtual Week board game. This measure provides an opportunity to investigate the different sorts of PM failures that occur. The ASD group showed significant PM impairment on measures of time-based (but not event-based) prospective remembering. However, only a subtle difference emerged between regular and irregular PM tasks, and group differences were consistent across these tasks. Because regular and irregular tasks differentially load retrospective memory, these data imply that the PM difficulties seen in ASDs may primarily reflect a monitoring deficit and not an encoding and memory storage deficit. PM performance was poorer under conditions of high ongoing task absorption, but the magnitude of this effect did not vary as a function of group. In both groups, time-based (but not event-based) PM difficulties were associated with functional outcomes in daily life, but only an inconsistent association with executive control emerged. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Henry, Julie D.] Univ Queensland, Sch Psychol, St Lucia, Qld 4072, Australia.
[Terrett, Gill; Raponi-Saunders, Sandra; Rendell, Peter G.] Australian Catholic Univ, Sch Psychol, Fitzroy, Vic 3065, Australia.
[Altgassen, Mareike] Radboud Univ Nijmegen, Ctr Cognit, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.
[Altgassen, Mareike] Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
[Ballhausen, Nicola; Schnitzspahn, Katharina M.] Univ Geneva, Dept Psychol, CH-1211 Geneva, Switzerland.
RP Henry, JD (reprint author), Univ Queensland, Sch Psychol, St Lucia, Qld 4072, Australia.
EM julie.henry@uq.edu.au; gill.terrett@acu.edu.au
RI Altgassen, Mareike/J-3048-2012
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NR 49
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0022-0965
EI 1096-0457
J9 J EXP CHILD PSYCHOL
JI J. Exp. Child Psychol.
PD NOV
PY 2014
VL 127
SI SI
BP 110
EP 125
DI 10.1016/j.jecp.2014.01.011
PG 16
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7SZ
UT WOS:000341554200009
PM 24679459
ER
PT J
AU Simo-Pinatella, D
Font-Roura, J
Alomar-Kurz, E
Gine, C
Matson, JL
AF Simo-Pinatella, David
Font-Roura, Josep
Alomar-Kurz, Elisabeth
Gine, Climent
Matson, Johnny L.
TI Functional variables of challenging behavior in individuals with
intellectual disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Challenging behavior; Behavioral function; QABF; Intellectual
disabilities
ID FUNCTION-BASED INTERVENTION; AUTISM SPECTRUM DISORDER; FUNCTION QABF
SCALE; AGGRESSIVE-BEHAVIOR; MENTAL-RETARDATION; SELF-INJURY;
DEVELOPMENTAL-DISABILITIES; PSYCHOMETRIC PROPERTIES; PRESESSION
ATTENTION; CONVERGENT VALIDITY
AB Research suggests that different types of challenging behavior (CB) may be maintained by different contingencies of reinforcement. In this study, we examined functional variables for nine types of CB (physical aggression, verbal aggression, self-injury, tantrums, noncompliance, property destruction, disruptive behavior, stereotypes and inappropriate verbal behavior) in 300 people with intellectual disabilities. The Questions About Behavioral Function (QABF) instrument was administered to 183 direct care staff members to assess a total of 328 challenging behaviors. Results of non-parametric analyses distinguished significant differences across behavioral functions. CBs associated with each subscale of the QABF were identified. Results were consistent with previous research, stereotypic behavior was scored significantly higher across the non-social functions measured by the QABF, whereas other types of CB (such as aggressive behavior) were scored significantly higher across social functions. The results of this study extend the literature on this issue, and implications for future research and direct care professionals are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Simo-Pinatella, David; Alomar-Kurz, Elisabeth; Gine, Climent] Ramon Llull Univ, Barcelona 08022, Spain.
[Font-Roura, Josep] CPT Estel, Vic 08500, Spain.
[Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Simo-Pinatella, D (reprint author), Ramon Llull Univ, C Cister 34, Barcelona 08022, Spain.
EM davidsp@blanquerna.url.edu; j.font@santtomas.cat;
ElisabethAK@blanquerna.url.edu; ClimentGG@blanquerna.url.edu;
JohnMatson@aol.com
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NR 70
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2635
EP 2643
DI 10.1016/j.ridd.2014.06.026
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300004
PM 25041877
ER
PT J
AU Benjamin, DP
Mastergeorge, AM
McDuffie, AS
Kover, ST
Hagerman, RJ
Abbeduto, L
AF Benjamin, David P.
Mastergeorge, Ann M.
McDuffie, Andrea S.
Kover, Sara T.
Hagerman, Randi J.
Abbeduto, Leonard
TI Effects of labeling and pointing on object gaze in boys with fragile X
syndrome: An eye-tracking study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Autism; Eye tracking; Word learning
ID AUTISM SPECTRUM DISORDER; WITHIN-SYNDROME DIFFERENCES; JOINT
VISUAL-ATTENTION; YOUNG-CHILDREN; LANGUAGE-DEVELOPMENT; DEVELOPMENTAL
TRAJECTORIES; BEHAVIORAL-PHENOTYPE; PRESCHOOL-CHILDREN; SOCIAL SCENES;
INFANTS
AB We examined the visual processing of a social learning stimulus and the ways in which visual attention was distributed to objects as well as to the examiner's face during word learning under conditions that varied only in the presence or absence of a label. The goal of the current study, then, was to evaluate the effects of differentially providing pointing and labeling during exposure to a novel target object in males with fragile X syndrome (FXS) (n = 14, ages 4.33-10.02), autism spectrum disorder (ASD) (n = 17, ages 4.04-10.4), or typical development (TD) (n = 18, ages 2.05-5.33). In particular, the present study examined attention to the examiner's face as well as target and distracter objects that were presented as video stimuli. An eye-tracker captured gaze to the video stimuli as they were shown in order to examine the way in which children with FXS, ASD, or TD distributed their gaze toward the examiner and the objects. Results indicated that no group showed increased gaze toward the target object compared to the distracter object. However, results revealed that participants with FXS showed significantly increased face gaze compared to the novel objects, whereas children with ASD and TD both showed similar amounts of relative gaze toward the face and objects. Furthermore, the act of pointing at the target object was found to increase gaze toward the target objects compared to when there was no pointing in all groups. Together, these findings suggest that social cues like those employed in a word-learning task, when presented with video, may relate to gaze in FXS in context- or task-dependent ways that are distinct from those expected during live interaction. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Benjamin, David P.; McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard] Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
[Benjamin, David P.; McDuffie, Andrea S.; Abbeduto, Leonard] Univ Calif Davis, Sch Med, Dept Psychiat & Behav Sci, Davis, CA USA.
[Mastergeorge, Ann M.] Univ Arizona, Div Family Studies & Human Dev, Tucson, AZ 85721 USA.
[Kover, Sara T.] Univ Washington, Seattle, WA 98195 USA.
[Hagerman, Randi J.] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA.
RP Benjamin, DP (reprint author), Univ Calif Davis, MIND Inst, Davis, CA 95616 USA.
EM dpbenjamin@ucdavis.edu; amastergeorge@u.arizona.edu;
andrea.mcduffie@ucdmc.ucdavis.edu; skover@uw.edu;
randi.hagerman@ucdmc.ucdavis.edu; leonard.abbeduto@ucdmc.ucdavis.edu
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NR 88
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2658
EP 2672
DI 10.1016/j.ridd.2014.06.021
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300007
PM 25062097
ER
PT J
AU Hustyi, KM
Hall, SS
Jo, B
Lightbody, AA
Reiss, AL
AF Hustyi, Kristin M.
Hall, Scott S.
Jo, Booil
Lightbody, Amy A.
Reiss, Allan L.
TI Longitudinal trajectories of aberrant behavior in fragile X syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Aberrant behavior; Longitudinal data; Adaptive
behavior
ID AUTISM SPECTRUM DISORDER; SELF-INJURIOUS-BEHAVIOR; MENTAL-RETARDATION;
YOUNG BOYS; INTELLECTUAL DISABILITIES; MALADAPTIVE BEHAVIORS; GENETIC
SYNDROMES; CHILDREN; CHECKLIST; MALES
AB The Aberrant Behavior Checklist-Community. (ABC-C; Aman et al., 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 males, 60 females) with FXS who had two or more assessments (average interval between assessments was approximately 4 years). Concomitant changes in age-equivalent scores on the Vineland Adaptive Behavior Scales (VABS) were also examined. As expected for an X-linked genetic disorder, males with FXS obtained significantly higher scores on all subscales of the ABC-C and significantly lower age-equivalent scores on the VABS than females with FXS. In both males and females with FXS, scores on the Irritability/Agitation and Hyperactivity/Noncompliance subscales of the ABC-C decreased significantly with age, with little to no change occurring over time on the Lethargy/Social Withdrawal, Stereotypic Behavior, and Inappropriate Speech subscales. The decrease in scores on the Hyperactivity/Noncompliance domain was significantly greater for males than for females. In both males and females, age-equivalent scores on the VABS increased significantly over this developmental period. These results establish a basis upon which to evaluate long-term outcomes from intervention-based research. However, longitudinal direct observational studies are needed to establish whether the severity of problem behavior actually decreases over time in this population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hustyi, Kristin M.; Hall, Scott S.; Jo, Booil; Lightbody, Amy A.; Reiss, Allan L.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA.
RP Hustyi, KM (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Ctr Interdisciplinary Brain Sci Res, 401 Quarry Rd, Stanford, CA 94305 USA.
EM khustyi@stanford.edu; hallss@stanford.edu; booil@stanford.edu;
aal@stanford.edu; areiss1@stanford.edu
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NR 49
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2691
EP 2701
DI 10.1016/j.ridd.2014.07.003
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300010
PM 25129200
ER
PT J
AU Titeca, D
Roeyers, H
Josephy, H
Ceulemans, A
Desoete, A
AF Titeca, Daisy
Roeyers, Herbert
Josephy, Haeike
Ceulemans, Annelies
Desoete, Annemie
TI Preschool predictors of mathematics in first grade children with autism
spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorder; Early numerical competencies; First grade
mathematics
ID HIGH-FUNCTIONING AUTISM; BASIC NUMERICAL CAPACITIES; NUMBER SENSE;
INDIVIDUAL-DIFFERENCES; YOUNG-CHILDREN; DEVELOPMENTAL DYSCALCULIA;
LEARNING-DIFFICULTIES; COGNITIVE PREDICTORS; ASPERGER SYNDROME;
WORKING-MEMORY
AB Up till now, research evidence on the mathematical abilities of children with autism spectrum disorder (ASD) has been scarce and provided mixed results. The current study examined the predictive value of five early numerical competencies for four domains of mathematics in first grade. Thirty-three high-functioning children with ASD were followed up from preschool to first grade and compared with 54 typically developing children, as well as with normed samples in first grade. Five early numerical competencies were tested in preschool (5-6 years): verbal subitizing, counting, magnitude comparison, estimation, and arithmetic operations. Four domains of mathematics were used as outcome variables in first grade (6-7 years): procedural calculation, number fact retrieval, word/language problems, and time-related competences. Children with ASD showed similar early numerical competencies at preschool age as typically developing children. Moreover, they scored average on number fact retrieval and time-related competences and higher on procedural calculation and word/language problems compared to the normed population in first grade. When predicting first grade mathematics performance in children with ASD, both verbal subitizing and counting seemed to be important to evaluate at preschool age. Verbal subitizing had a higher predictive value in children with ASD than in typically developing children. Whereas verbal subitizing was predictive for procedural calculation, number fact retrieval, and word/language problems, counting was predictive for procedural calculation and, to a lesser extent, number fact retrieval. Implications and directions for future research are discussed. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Titeca, Daisy; Roeyers, Herbert; Ceulemans, Annelies; Desoete, Annemie] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium.
[Josephy, Haeike] Univ Ghent, Dept Data Anal, B-9000 Ghent, Belgium.
[Desoete, Annemie] Artevelde Univ Coll, Dept Speech Therapists, Ghent, Belgium.
RP Titeca, D (reprint author), Univ Ghent, Dept Expt Clin & Hlth Psychol, Henri Dunantlaan 2, B-9000 Ghent, Belgium.
EM Daisy.Titeca@UGent.be; Herbert.Roeyers@UGent.be;
Haeike.Josephy@UGent.be; Annelies.Ceulemans@UGent.be;
Annemie.Desoete@UGent.be
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NR 106
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2714
EP 2727
DI 10.1016/j.ridd.2014.07.012
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300012
PM 25068926
ER
PT J
AU Richling, SM
Rapp, JT
Funk, JA
D'Agostini, J
Garrido, N
Moreno, V
AF Richling, Sarah M.
Rapp, John T.
Funk, Janie A.
D'Agostini, Jaimie
Garrido, Natalia
Moreno, Vicki
TI Low publication rate of 2005 conference presentations: Implications for
practitioners serving individuals with autism and intellectual
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Association for Behavior Analysis International; Conference
presentations; Continuing education; Publications
ID ANNUAL SCIENTIFIC CONFERENCE; AMERICAN-COLLEGE; ASSOCIATION; ABSTRACTS;
MEETINGS; FOOT
AB This study determined the percentage of presentations at the annual conference of the Association for Behavior Analysis in 2005 with the autism (AUT) and developmental disabilities (DDA) codes (N = 880) that (a) provided continuing education credits (CEs) for Board Certified Behavior Analysts (BCBAs) and Board Certified Assistant Behavior Analysts (BCaBAs) and (b) included content that was published in a peer-reviewed outlet. Results indicate that only 77 (8.8%) presentations were ultimately published. Although posters were not eligible for CEs, posters accounted for 57.1% of the published presentations. Specifically, posters presented by a university-affiliated presenter accounted for 44.2% of presentations with published content. As a whole, only 10.4% of AUT and DDA presentations offering CEs contained data sets that were published. Considered together, these results suggest that the content provided to BCBAs and BCaBAs for CEs may not be adequately measured or sufficiently rigorous to guide clinical practices. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Richling, Sarah M.; Funk, Janie A.; D'Agostini, Jaimie; Garrido, Natalia; Moreno, Vicki] Univ Nevada Renoc, Reno, NV USA.
[Rapp, John T.] Auburn Univ, Auburn, AL 36849 USA.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
CR Abicht BP, 2012, J FOOT ANKLE SURG, V51, P45, DOI 10.1053/j.jfas.2011.05.009
American Psychological Association, 2013, AM PSYCHOL, V68, P381
Association for Behavior Analysis International, 2013, CHIC 40 ANN CONV CAL
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Tyagi Asha, 2013, J Anaesthesiol Clin Pharmacol, V29, P216, DOI 10.4103/0970-9185.111727
NR 12
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2744
EP 2750
DI 10.1016/j.ridd.2014.07.023
PG 7
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300015
PM 25077833
ER
PT J
AU Ranjbar, A
Rashedi, V
Rezaei, M
AF Ranjbar, Akram
Rashedi, Vahid
Rezaei, Mohammad
TI Comparison of urinary oxidative biomarkers in Iranian children with
autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autistic disorder; Oxidative stress; Total antioxidant capacity
ID GLUTATHIONE REDOX STATUS; SONIC HEDGEHOG PROTEIN; STRESS; BRAIN;
ANTIOXIDANT; MITOCHONDRIA; DISORDERS; APOPTOSIS; PROPOFOL; DAMAGE
AB Autism is a complex neurodevelopmental disorder usually presents in early childhood and thought to be influenced by genetic and environmental factors. Individuals with autism vary widely in abilities, intelligence, and behaviors. It is common for children with autism to exhibit eating disorders and some have preferences for soft and sweetened food making them susceptible to caries. Furthermore, a wide spectrum of medical and behavioral symptoms exhibited by children with autism makes routine dental care very difficult. Intellectual disability is evident in approximately 70% of individuals with autism and most psychiatric disorders, including autism, are associated with increased oxidative stress. 29 subjects diagnosed with autism, in the age group of 6 to 12 years, were a part of the study. Furturemore, 24 normal healthy siblings of same age group were taken as the control group.
The present study aimed to evaluate oxidative stress biomarkers such as urinary total antioxidant concentration (TAC), catalase activity (CAT) and total thiol molecules (TTM). The results showed the autism group have significantly higher CAT activity and concomitant lower TAC and TTM concentration in comparison with control group. The results are discussed in relation to an increased vulnerability to oxidative damage, which may contribute to the development and clinical manifestation of symptoms of autism. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ranjbar, Akram] Hamadan Univ Med Sci, Dept Toxicol & Pharmacol, Sch Pharm, Hamadan, Iran.
[Rashedi, Vahid] Univ Social Welf & Rehabil Sci, Iranian Res Ctr Aging, Tehran, Iran.
[Rezaei, Mohammad] Hamadan Univ Med Sci & Hlth Serv, Fac Rehabil Sci, Hamadan, Iran.
RP Rezaei, M (reprint author), Hamadan Univ Med Sci & Hlth Serv, Fac Rehabil Sci, Hamadan, Iran.
EM m_r_st@yahoo.com
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NR 31
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2751
EP 2755
DI 10.1016/j.ridd.2014.07.010
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300016
PM 25086736
ER
PT J
AU Murphy, SM
Faulkner, DM
Reynolds, LR
AF Murphy, Suzanne M.
Faulkner, Dorothy M.
Reynolds, Laura R.
TI A randomised controlled trial of a computerised intervention for
children with social communication difficulties to support peer
collaboration
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Randomised controlled trial; Social communication; Pragmatic language;
Intervention; Peer relations; Peer collaboration
ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; SCHOOL-AGE-CHILDREN;
LANGUAGE IMPAIRMENT; PRAGMATIC LANGUAGE; PERSPECTIVE-TAKING; WORK;
TECHNOLOGIES; ASSOCIATIONS; THERAPY
AB An intervention aiming to support children with social communication difficulties was tested using a randomised controlled design. Children aged 5-6 years old (n = 32) were tested and selected for participation on the basis of their scores on the Test of Pragmatic Skills (TPS) and were then randomly assigned to the intervention arm or to the delayed intervention control group. Following previous research which suggested that computer technology may be particularly useful for this group of children, the intervention included a collaborative computer game which the children played with an adult. Subsequently, children's performance as they played the game with a classmate was observed. Micro-analytic observational methods were used to analyse the audio-recorded interaction of the children as they played. Pre- and post-intervention measures comprised the Test of Pragmatic Skills, children's performance on the computer game and verbal communication measures that the children used during the game.
This evaluation of the intervention shows promise. At post-test, the children who had received the intervention, by comparison to the control group who had not, showed significant gains in their scores on the Test of Pragmatic Skills (p = .009, effect size r = -.42), a significant improvement in their performance on the computer game (p = .03, r = -.32) and significantly greater use of high-quality questioning during collaboration (p < .001, r = -.60). Furthermore, the children who received the intervention made significantly more positive statements about the game and about their partners (p = .02, r = -.34) suggesting that the intervention increased their confidence and enjoyment. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Murphy, Suzanne M.] Univ Bedfordshire, Inst Hlth Res, Luton LU2 8LE, Beds, England.
[Faulkner, Dorothy M.] Open Univ, Fac Educ & Language Studies, Milton Keynes MK7 6AA, Bucks, England.
[Reynolds, Laura R.] Beech Close Resource Ctr, Child Mental Hlth Serv, Dunstable LU6 3SD, Beds, England.
[Reynolds, Laura R.] Beech Close Resource Ctr, Adolescent Mental Hlth Serv, Dunstable LU6 3SD, Beds, England.
RP Murphy, SM (reprint author), Univ Bedfordshire, Inst Hlth Res, Hitchin Rd, Luton LU2 8LE, Beds, England.
EM suzanne.murphy@beds.ac.uk
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NR 57
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2821
EP 2839
DI 10.1016/j.ridd.2014.07.026
PG 19
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300024
PM 25104223
ER
PT J
AU Shapiro, CJ
Kilburn, J
Hardin, JW
AF Shapiro, Cheri J.
Kilburn, Janice
Hardin, James W.
TI Prevention of behavior problems in a selected population: Stepping
Stones Triple P for parents of young children with disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Children; Disabilities; Parenting; Evidence-based parenting
intervention; Randomized design; Home-based intervention
ID RANDOMIZED CONTROLLED-TRIAL; WORKING ALLIANCE INVENTORY; AUTISM SPECTRUM
DISORDER; EARLY HEAD-START; DEVELOPMENTAL-DISABILITIES; CHALLENGING
BEHAVIOR; DISRUPTIVE BEHAVIOR; INTERACTION THERAPY; INTELLECTUAL
DISABILITY; 3-YEAR-OLD CHILDREN
AB Because young children with disabilities are at elevated risk for development of challenging behaviors, and caregivers of these children typically lack access to evidence-based parenting interventions, two randomized trials were conducted to examine the impact of an evidence-based parenting intervention, Stepping Stones Triple P (SSTP), as a selective preventive intervention. Both studies targeted parents of children under two with a variety of disabilities who were enrolled in the IDEA Part C Early Intervention (El) system in one state. SSTP was delivered in family homes. In Study One, 49 families were randomly assigned to El services as usual, with or without SSTP; a 52% attrition rate from treatment was seen. No significant between-group differences were seen aside from a trend toward reduced symptoms of parental depression at follow-up. Intervention group children demonstrated significant decline in behavior problems from post treatment to follow-up, and there was a trend toward improved parenting style in the intervention group during this same time frame. Study Two incorporated a separate workforce intervention for El service coordinators; 40 families on their caseloads were then randomly assigned to receive El services as usual with or without SSTP. Attrition from treatment was limited to 20%. No differential impact was seen on child behavior; a trend was noted post-treatment on parent symptoms of depression and on the observed parent-child relationship. At 12-month follow-up, there was a trend favoring improvement in the intervention group in parenting style; statistically significant impact was also seen on the observed quality of the parent-child relationship. SSTP shows promise as a selective preventive intervention for an early intervention population. Reasons for the differential findings between the two studies are explored and suggestions for future research are provided. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Shapiro, Cheri J.; Hardin, James W.] Univ S Carolina, Columbia, SC 29208 USA.
[Kilburn, Janice] South Carolina First Steps Sch Readiness, Columbia, SC USA.
RP Shapiro, CJ (reprint author), Univ S Carolina, Inst Families Soc, 1600 Hampton St,Fifth Floor, Columbia, SC 29208 USA.
EM cshapiro@mailbox.sc.edu
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NR 78
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2958
EP 2975
DI 10.1016/j.ridd.2014.07.036
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300035
PM 25124695
ER
PT J
AU Stasolla, F
Damiani, R
Perilli, V
Di Leone, A
Albano, V
Stella, A
Damato, C
AF Stasolla, Fabrizio
Damiani, Rita
Perilli, Viviana
Di Leone, Antonia
Albano, Vincenza
Stella, Anna
Damato, Concetta
TI Technological supports to promote choice opportunities by two children
with fragile X syndrome and severe to profound developmental
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Rehabilitative intervention; Stereotypies; Quality
of life; Choice opportunities; Assistive technology
ID AUTISM SPECTRUM DISORDERS; SCANNING KEYBOARD EMULATOR; MICROSWITCH-BASED
PROGRAMS; QUALITY-OF-LIFE; INTELLECTUAL DISABILITIES; MULTIPLE
DISABILITIES; MOTOR DISABILITIES; ASSISTIVE TECHNOLOGY; BEHAVIOR; BOYS
AB This study was aimed at assessing whether technological supports (i.e. optic sensors such as photocells) were successful enabling two boys with fragile X syndrome and severe to profound developmental disabilities to perform occupation and choice opportunities. A second goal of the study was to reduce stereotyped behaviours (i.e. hand mouthing and eye poking) exhibited by the participants. Finally, the third purpose of the study was to verify the rehabilitative effects of the intervention program on the indices of happiness of the participants. The study has been conducted according to a non-concurrent multiple baseline design across participants followed by intervention and cross over phases, where the associations between behavioural responses and environmental consequences were systematically inverted. Moreover, a maintenance phase was assessed. The results demonstrated that the technology is useful to facilitate employment and opportunities of choice, showing a growth of the indices of happiness and a decrease of stereotyped behaviours, from both participants involved. Clinical, practical and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega del Filo dOro Res Ctr, Molfetta, Italy.
[Damiani, Rita; Di Leone, Antonia; Albano, Vincenza; Stella, Anna; Damato, Concetta] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
[Perilli, Viviana] Res Ctr, Lesmo, Italy.
RP Stasolla, F (reprint author), Lega del Filo dOro Res Ctr, Molfetta, Italy.
EM f.stasolla@psico.uniba.it
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NR 43
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 2993
EP 3000
DI 10.1016/j.ridd.2014.07.045
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300038
PM 25118066
ER
PT J
AU Lee, RLT
Lee, PH
AF Lee, Regina L. T.
Lee, Paul H.
TI To evaluate the effects of a simplified hand washing improvement program
in schoolchildren with mild intellectual disability: A pilot study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Schoolchildren with mild intellectual disability; Simplified hand
hygiene program; Effectiveness; Multisensory stimulation
ID TEACH PERSPECTIVE-TAKING; CHILDREN; AUTISM; HYGIENE; INDIVIDUALS;
SKILLS; INTERVENTIONS; INFECTIONS; COMMUNITY; STUDENTS
AB A quasi-experimental study using a pretest-posttest design with a control group was used to evaluate the effects of a simplified 5-step multimedia visualization hand hygiene improvement program by schoolchildren with mild intellectual disability (MID). A total of twenty schoolchildren aged 6-12 years old with MID (12 males) were recruited and they were assigned into intervention (n = 10) and control (n = 10) groups. To evaluate the quality of their hand washing, Glow gel, which contains plastic simulated germs that are visible under an ultra-violet lamp, was applied to participants' hands to assess the quality of hand washing by comparing the amount of visible Glow gel before and after hand washing using a 4-point scale. Four raters used this 4-point scale to assess the quality of hand washing through digital photo images of the participants' hands. A total of eight digital photos per participant were taken. A fifteen-minute hand washing training session was conducted every school day for 4 weeks for the intervention group. Those in the control group received no training. A multimedia visual package on steps of hand washing was presented together with a reward system, whereby a number of stars were earned each week depending on the quality of hand washing. Results showed encouraging findings, as the schoolchildren in the intervention group showed significant improvement in hand washing (p < 0.001) and the improvement was stronger than that of the control group (p = 0.02). To conclude, a systematic instruction emphasizing multimedia visualization in a hand washing improvement program can be successfully implemented in a special school, and the effect of integrating multimedia visuals in the hand hygiene program could improve hand hygiene among schoolchildren with MID. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lee, Regina L. T.] Hong Kong Polytech Univ, Sch Nursing, Collaborating Ctr, World Hlth Org, Kowloon, Hong Kong, Peoples R China.
[Lee, Paul H.] Hong Kong Polytech Univ, Sch Nursing, Kowloon, Hong Kong, Peoples R China.
RP Lee, RLT (reprint author), Hong Kong Polytech Univ, Sch Nursing, Collaborating Ctr, World Hlth Org, Kowloon, Hong Kong, Peoples R China.
EM Regina.Lee@polyu.edu.hk
CR Aiello AE, 2008, AM J INFECT CONTROL, V36, pS152, DOI 10.1016/j.ajic.2008.09.009
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NR 36
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3014
EP 3025
DI 10.1016/j.ridd.2014.07.016
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300040
PM 25124699
ER
PT J
AU Lovell, B
Elliot, H
Liu, CCS
Wetherell, MA
AF Lovell, Brian
Elliot, Helen
Liu, Chris Che Sung
Wetherell, Mark A.
TI Memory failures for everyday tasks in caregivers of children with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Caregiving; Cognition; Everyday memory; Perceived stress
ID INFORMAL CAREGIVERS; COGNITIVE FUNCTION; BEHAVIOR PROBLEMS; STRESS;
DISABILITIES; RESPONSES; SMOKING; PARENTS; DECLINE
AB The stress of caring for a loved one with chronic illness has been linked with impairments in cognitive processes such as attention and problem solving, though few studies have examined the impact on memory. Compromised cognition, in particular, aspects of everyday functioning such as remembering medical instructions and appointments, might affect caregivers' ability to maintain the Consistency and quality of care needed by the child. A sample of 31 caregivers of children with autism and 51 parents of neuro-typical children completed an electronic survey assessing their levels of psychological distress and everyday memory. Perceived stress scores were higher in the caregiver group, as were self-reported memory failures for everyday tasks. The negative impact of caregiver stress on everyday memory was particularly salient among caregivers experiencing higher perceived levels of stress. These findings have implications for interventions that aim to improve caregivers' cognitive well being through targeting the psychological sequelae associated with the caregiving experience. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lovell, Brian; Elliot, Helen; Liu, Chris Che Sung; Wetherell, Mark A.] Northumbria Univ, Dept Psychol, Stress Res Grp, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
RP Lovell, B (reprint author), Northumbria Univ, Dept Psychol, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
EM brian.lovell@northumbria.ac.uk
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NR 30
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3057
EP 3061
DI 10.1016/j.ridd.2014.07.019
PG 5
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300044
PM 25128790
ER
PT J
AU Kretschmer, A
Altgassen, M
Rendell, PG
Bolte, S
AF Kretschmer, Anett
Altgassen, Mareike
Rendell, Peter G.
Bolte, Sven
TI Prospective memory in adults with high-functioning autism spectrum
disorders: Exploring effects of implementation intentions and
retrospective memory load
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Asperger syndrome; Executive function; Memory for intentions;
Implementation intentions; Cognition; Planning abilities; Retrospective
memory load
ID TRAUMATIC BRAIN-INJURY; VIRTUAL WEEK; EXECUTIVE FUNCTION;
ASPERGERS-SYNDROME; EMOTIONAL VALENCE; OLDER-ADULTS; FREE-RECALL;
PERFORMANCE; DEFICITS; CHILDREN
AB This study examined, for the first time, the impact of implementation intentions on Prospective memory (PM) performance in adults with autism spectrum disorders (ASD) and further explored the role of retrospective memory for PM in ASD. PM was assessed with Virtual Week, a computerized game simulating upcoming everyday-life tasks. Twenty-seven adults with ASD and 27 age- and ability-matched controls were included. Half of the participants were, instructed to form implementation intentions (i.e., encoding PM tasks in form of if-then statements), while the rest received simple PM instructions. Results provide first tentative evidence for beneficial effects of implementation intentions and PM tasks with low demands on retrospective memory for adults with ASD's PM. Overall, results point to the importance of planning and retrospective memory for successful prospective remembering in ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kretschmer, Anett; Altgassen, Mareike] Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
[Altgassen, Mareike] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Rendell, Peter G.] Australian Catholic Univ, Sch Psychol, Melbourne, Vic, Australia.
[Bolte, Sven] Karolinska Inst, Dept Womens & Childrens Hlth, Pediat Neuropsychiat Unit, Ctr Neurodev Disorders KIND, Stockholm, Sweden.
[Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
RP Kretschmer, A (reprint author), Tech Univ Dresden, Dept Psychol, Zellescher Weg 17, D-01062 Dresden, Germany.
EM anett.kretschmer@tu-dresden.de
RI Altgassen, Mareike/J-3048-2012
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NR 72
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3108
EP 3118
DI 10.1016/j.ridd.2014.07.052
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300050
PM 25151603
ER
PT J
AU McStay, RL
Trembath, D
Dissanayake, C
AF McStay, Rebecca L.
Trembath, David
Dissanayake, Cheryl
TI Maternal stress and family quality of life in response to raising a
child with autism: From preschool to adolescence
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Stress; Family quality of life; Child behaviour; Social support
ID DOUBLE ABCX MODEL; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; BEHAVIOR
PROBLEMS; PARENTING STRESS; YOUNG-ADULTS; MALADAPTIVE BEHAVIORS;
SYNDROME SPECIFICITY; SYMPTOM SEVERITY; MOTHERS
AB While the impact of raising a child with an Autism Spectrum Disorder (ASD) is well documented, with mothers reporting higher levels of stress than mothers of children with other disabilities, positive maternal outcomes have also been identified. What remains unclear, however, is the role of child age on maternal outcomes. We sought to clarify the role of child age in maternal stress and family quality of life (FQoL) in mothers raising a child with ASD. Participants included 140 mothers of children aged 3-16 years grouped to represent four key stages of childhood (preschool, early school years, middle school, early high school). Using a cross-sectional design, mothers completed questionnaires assessing potential risk (e.g., child problem behaviour, symptom severity) and protective (e.g., family characteristics) factors attributed to maternal outcomes. The results revealed significant age related group differences in child internalising behaviour and ASD symptomatology between the early and middle school years. Lower levels of adaptive social behaviour in older age groups were also found. Although mothers of older children reported significantly less support from professionals than mothers of younger children, no significant age effects were found to contribute to maternal reports of stress or FQoL. The current findings support the view that mothers appear to demonstrate stable levels of stress and FQoL despite fluctuations in key child variables and a reduction in supports, across age, highlighting the ongoing nature of maternal needs and heightened levels of child symptomatology during adolescence. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [McStay, Rebecca L.; Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic 3038, Australia.
[Trembath, David] Griffith Univ, Griffith Hlth Inst, Nathan, Qld 4111, Australia.
RP Dissanayake, C (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic 3038, Australia.
EM c.dissanayake@latrobe.edu.au
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NR 61
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3119
EP 3130
DI 10.1016/j.ridd.2014.07.043
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300051
PM 25145805
ER
PT J
AU Debrabant, J
Plasschaert, E
Caeyenberghs, K
Vingerhoets, G
Legius, E
Janssens, S
Van Waelvelde, H
AF Debrabant, Julie
Plasschaert, Ellen
Caeyenberghs, Karen
Vingerhoets, Guy
Legius, Eric
Janssens, Sandra
Van Waelvelde, Hilde
TI Deficient motor timing in children with neurofibromatosis type 1
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Neurofibromatosis type 1; Reaction time; Motor timing; Motor
development; Children
ID DEVELOPMENTAL COORDINATION DISORDER; REACTION-TIME; POPULATION;
PERFORMANCE; DELAYS; AUTISM
AB Neurofibromatosis type 1 (NF1) is one of the most common single-gene disorders affecting fine and visual-motor skills. This case-control study investigated motor timing as a possible related performance deficit in children with NF1. A visual-motor reaction time (VRT) test was administered in 20 NF1 children (mean age 9 years 7 months) and 20 age- and gender-matched typically developing (TD) children. Copying and tracing performance were evaluated using the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI). Children with NF1 responded with an increased reaction time (RT) to temporally predictive stimuli compared to TD children, whereas RT at unpredictiye stimuli did not differ between groups. Motor timing indexed by the RT decrease at predictive stimuli significantly associated with the Beery VMI copy and tracing outcomes. Deficient motor timing as an actual symptom may add to further research on the pathogenesis of NF1-associated motor impairment and the development of more effective treatment. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Debrabant, Julie; Caeyenberghs, Karen; Van Waelvelde, Hilde] Univ Ghent, Ghent Univ Hosp, Dept Rehabil Sci & Physiotherapy, B-9000 Ghent, Belgium.
[Plasschaert, Ellen; Legius, Eric] Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium.
[Plasschaert, Ellen; Legius, Eric] Katholieke Univ Leuven, Dept Human Genet, B-3000 Leuven, Belgium.
[Caeyenberghs, Karen] Univ Ghent, Dept Movement & Sports Sci, B-9000 Ghent, Belgium.
[Vingerhoets, Guy] Univ Ghent, Dept Expt Psychol, B-9000 Ghent, Belgium.
[Janssens, Sandra] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium.
RP Debrabant, J (reprint author), Univ Ghent, Ghent Univ Hosp, Dept Rehabil Sci & Physiotherapy, Campus Heymans,2B3,De Pintelaan 185, B-9000 Ghent, Belgium.
EM Julie.debrabant@ugent.be
CR Beery K. E., 2004, BEERY BUKTENICA DEV
Bo J, 2014, RES DEV DISABIL, V35, P2035, DOI 10.1016/j.ridd.2014.04.027
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Pecenka N., 2013, FRONTIERS HUMAN NEUR, P7
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NR 35
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3131
EP 3138
DI 10.1016/j.ridd.2014.07.059
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300052
PM 25145806
ER
PT J
AU Turygin, NC
Matson, JL
Adams, HL
Williams, LW
AF Turygin, Nicole C.
Matson, Johnny L.
Adams, Hilary L.
Williams, Lindsey W.
TI Co-occurring disorder clusters in adults with mild and moderate
intellectual disability in residential treatment settings
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Intellectual disability; Developmental disabilities; Psychopathology;
Comorbidity; Adults
ID II DASH-II; COMORBIDITY SURVEY REPLICATION; PROFOUND MENTAL-RETARDATION;
AUTISM SPECTRUM DISORDERS; DIAGNOSTIC-ASSESSMENT; MOOD DISORDERS;
SUBSTANCE USE; PSYCHIATRIC-DISORDERS; ANXIETY DISORDERS; COMMUNITY
SAMPLE
AB In the typically developing population, co-occurring psychopathology is not uncommon and is a topic of importance among psychologists. It is only recently that the psychopathology in individuals with intellectual disability (ID) has become an area of significant clinical and research interest. Individuals with ID are believed to be at a greater risk for co-occurring disorders compared to the typical population. By definition, ID. involves deficits in adaptive behavior, which necessitates the use of community services, or specialized services at residential facilities to manage severe challenging behaviors or psychiatric disorders. The presence of co-occurring disorders in addition to ID can complicate treatment, limit available services, and restrict opportunities for individuals with ID. The present study examines the prevalence of co-occurring psychiatric disorders and ID in a sample of 78 individuals with mild to moderate ID living in a long-term residential treatment facility diagnosed with psychiatric disorders. Certain psychiatric disorders were more likely to co-occur together in this population. Identifying and treating individuals with multiple psychopathologies in addition to ID poses challenges unique to the population. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Turygin, Nicole C.; Matson, Johnny L.; Adams, Hilary L.; Williams, Lindsey W.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Turygin, NC (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM nturyg1@tigers.lsu.edu
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NR 53
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD NOV
PY 2014
VL 35
IS 11
BP 3156
EP 3161
DI 10.1016/j.ridd.2014.07.039
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AO7PY
UT WOS:000341546300055
PM 25151605
ER
PT J
AU Walder, DJ
Laplante, DR
Sousa-Pires, A
Veru, F
Brunet, A
King, S
AF Walder, Deborah J.
Laplante, David R.
Sousa-Pires, Alexandra
Veru, Franz
Brunet, Alain
King, Suzanne
TI Prenatal maternal stress predicts autism traits in 61/2 year-old
children: Project Ice Storm
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Prenatal maternal stress; Autism spectrum disorder; Natural disaster;
Sex differences; Dimensional model; Developmental psychopathology;
Pregnancy
ID AT-RISK YOUTH; CORTISOL SECRETION; SEX-DIFFERENCES; NEURODEVELOPMENTAL
DISORDERS; PSYCHIATRIC-DISORDERS; POSTNATAL DEPRESSION; PROBING
INTERACTIONS; SPECTRUM DISORDERS; INFANT TEMPERAMENT; ANTENATAL ANXIETY
AB Research implicates prenatal maternal stress (PNMS) as a risk factor for neurodevelopmental disorders; however few studies report PNMS effects on autism risk in offspring. We examined, prospectively, the degree to which objective and subjective elements of PNMS explained variance in autism-like traits among offspring, and tested moderating effects of sex and PNMS timing in utero. Subjects were 89 (46F/43M) children who were in utero during the 1998 Quebec Ice Storm. Soon after the storm, mothers completed questionnaires on objective exposure and subjective distress, and completed the Autism Spectrum Screening Questionnaire (ASSQ) for their children at age 61/2. ASSQ scores were higher among boys than girls. Greater objective and subjective PNMS predicted higher ASSQ independent of potential confounds. An objective-by-subjective interaction suggested that when subjective PNMS was high, objective PNMS had little effect; whereas when subjective PNMS was low, objective PNMS strongly affected ASSQ scores. A timing-by-objective stress interaction suggested objective stress significantly affected ASSQ in first-trimester exposed children, though less so with later exposure. The final regression explained 43% of variance in ASSQ scores; the main effect of sex and the sex-by-PNMS interactions were not significant. Findings may help elucidate neurodevelopmental origins of non-clinical autism-like traits from a dimensional perspective. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Walder, Deborah J.] CUNY Brooklyn Coll, Dept Psychol, Brooklyn, NY 11210 USA.
[Walder, Deborah J.] CUNY, Grad Ctr, Brooklyn, NY 11210 USA.
[Laplante, David R.; Sousa-Pires, Alexandra; Veru, Franz; Brunet, Alain; King, Suzanne] Douglas Mental Hlth Univ Inst, Psychosocial Res Div, Verdun, PQ H4H 1R3, Canada.
[Veru, Franz; Brunet, Alain; King, Suzanne] McGill Univ, Dept Psychiat, Montreal, PQ H3A 1A1, Canada.
RP King, S (reprint author), Douglas Mental Hlth Univ Inst, Psychosocial Res Div, 6875 LaSalle Blvd, Verdun, PQ H4H 1R3, Canada.
EM Suzanne.King@mcgill.ca
FU McGill University Stairs Memorial Fund; Canadian Institutes of Health
Research [MOP-57849]; Douglas Hospital Research Centre; Fonds de la
recherche en sante du Quebec
FX We thank the families who have participated in Project Ice Storm since
1998. We thank Shannon Woo, Cheryl Chanson, and Sawsan Mbirkou for data
entry. This study was supported by Grants from the McGill University
Stairs Memorial Fund, the Canadian Institutes of Health Research (Grant
no. MOP-57849), and the Douglas Hospital Research Centre, and a research
fellowship from the Fonds de la recherche en sante du Quebec awarded to
Suzanne King.
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NR 86
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 353
EP 360
DI 10.1016/j.psychres.2014.04.034
PG 8
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500018
PM 24907222
ER
PT J
AU Mealey, A
Abbott, G
Byrne, LK
McGillivray, J
AF Mealey, Alex
Abbott, Gavin
Byrne, Linda K.
McGillivray, Jane
TI Overlap between autistic and schizotypal personality traits is not
accounted for by anxiety and depression
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Schizotypy; Schizotypal traits; Autism spectrum disorder; Autistic
personality traits; Depression; Anxiety
ID LARGE NONCLINICAL SAMPLE; SPECTRUM QUOTIENT AQ; SCHIZOPHRENIA; DISORDER;
VALIDITY; MATHEMATICIANS; ADOLESCENTS; RELIABILITY; POPULATION; SYMPTOMS
AB Autism spectrum and schizophrenia spectrum disorders are classified separately in the DSM-5, yet research indicates that these two disorders share overlapping features. The aim of the present study was to examine the overlap between autistic and schizotypal personality traits and whether anxiety and depression act as confounding variables in this relationship within a non-clinical population. One hundred and forty-four adults completed the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire and the Depression Anxiety Stress Scales-21. A number of associations were seen between autistic and schizotypal personality traits. However, negative traits were the only schizotypal feature to uniquely predict global autistic traits, thus highlighting the importance of interpersonal qualities in the overlap of autistic and schizotypal characteristics. The inclusion of anxiety and depression did not alter relationships between autistic and schizotypal traits, indicating that anxiety and depression are not confounders of this relationship. These findings have important implications for the conceptualisation of both disorders. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Mealey, Alex; Abbott, Gavin; Byrne, Linda K.; McGillivray, Jane] Deakin Univ, Sch Psychol, Burwood, Vic 3125, Australia.
RP Byrne, LK (reprint author), Deakin Univ, Sch Psychol, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM linda.byrne@deakin.edu.au
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NR 41
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 380
EP 385
DI 10.1016/j.psychres.2014.05.040
PG 6
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500022
PM 24930576
ER
PT J
AU Hagenmuller, F
Rossler, W
Wittwer, A
Haker, H
AF Hagenmuller, Florence
Roessler, Wulf
Wittwer, Amrei
Haker, Helene
TI Juicy lemons for measuring basic empathic resonance
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Contagion; Empathy; Perception-action link; Salivation; Methodology
ID AUTISM SPECTRUM DISORDERS; ASPERGER-SYNDROME; EMBODIED EMPATHY;
SALIVATION; STIMULI; FLOW; SCHIZOPHRENIA; INTROVERSION; SECRETION;
EMOTION
AB Watch or even think of someone biting into a juicy lemon and your saliva will flow. This is a phenomenon of resonance, best described by the Perception Action Model, where a physiological state in a person is activated through observation of this state in another. Within a broad framework of empathy, including manifold abilities depending on the Perception-Action link, resonance has been proposed as one physiological substrate for empathy. Using 49 healthy subjects, we developed a standardized salivation paradigm to assess empathic resonance at the autonomic level. Our results showed that this physiological resonance correlated positively with self-reported empathic concern. The salivation test, delivered an objective and continuous measure, was simple to implement in terms of setup and instruction, and could not easily be unintentionally biased or intentionally manipulated by participants. Therefore, these advantages make such a test a useful tool for assessing empathy-related abilities in psychiatric populations. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Hagenmuller, Florence] Univ Hosp Psychiat Zurich, Dept Psychiat Psychotherapy & Psychosomat, CH-8021 Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] Univ Zurich, Coll Helveticum, Zurich, Switzerland.
[Hagenmuller, Florence; Roessler, Wulf; Wittwer, Amrei; Haker, Helene] ETH, Zurich, Switzerland.
[Haker, Helene] Univ Zurich, Inst Biomed Engn, Translat Neuromodeling Unit, Zurich, Switzerland.
[Roessler, Wulf] Univ Sao Paulo, Inst Psychiat, Lab Neurosci LIM 27, Sao Paulo, Brazil.
RP Hagenmuller, F (reprint author), Univ Hosp Psychiat Zurich, Dept Psychiat Psychotherapy & Psychosomat, POB 1930, CH-8021 Zurich, Switzerland.
EM florence.hagenmuller@dgsp.uzh.ch
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NR 64
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 391
EP 396
DI 10.1016/j.psychres.2014.05.053
PG 6
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500024
PM 24953424
ER
PT J
AU Reynolds, MT
Van Rheenen, TE
Rossell, SL
AF Reynolds, Michael T.
Van Rheenen, Tamsyn E.
Rossell, Susan L.
TI Theory of mind in first degree relatives of individuals with bipolar
disorder
SO PSYCHIATRY RESEARCH
LA English
DT Article
DE Endophenotypes; Social cognition; Mood disorders
ID SOCIAL COGNITION; ASPERGER-SYNDROME; SCHIZOPHRENIA; DEFICITS; ADULTS;
AUTISM; SCALE
AB We assessed theory of mind (TOM) performance in unaffected first-degree relatives of individuals with bipolar disorder compared to healthy controls across several well recognised tasks. Results indicated that the former group were significantly impaired on the verbal but not visual or higher-order ToM tasks, suggesting that a verbal ToM deficit might be a useful endophenotypic marker for bipolar disorder. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Swinburne Univ Technol, Sch Hlth Sci, Brain & Psychol Sci Res Ctr, Melbourne, Vic, Australia.
[Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Alfred Hosp, Monash Alfred Psychiat Res Ctr, Melbourne, Vic, Australia.
[Reynolds, Michael T.; Van Rheenen, Tamsyn E.; Rossell, Susan L.] Monash Univ, Cent Clin Sch, Melbourne, Vic 3004, Australia.
RP Van Rheenen, TE (reprint author), Monash Alfred Psychiat Res Ctr, Cognit Neuropsychiat Lab, Level 4,607 St Kilda Rd, Melbourne, Vic 3004, Australia.
EM tvanrheenen@swin.edu.au
FU Australian Rotary Health/Bipolar expedition; Helen McPherson Smith
Trust; Australian Postgraduate Award
FX The authors declare no conflicts of interest but would like to
acknowledge the financial support of the Australian Rotary
Health/Bipolar expedition, Helen McPherson Smith Trust, and an
Australian Postgraduate Award.
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NR 28
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-1781
J9 PSYCHIAT RES
JI Psychiatry Res.
PD OCT 30
PY 2014
VL 219
IS 2
BP 400
EP 402
DI 10.1016/j.psychres.2014.05.041
PG 3
WC Psychiatry
SC Psychiatry
GA AN1AG
UT WOS:000340314500026
PM 24947917
ER
PT J
AU Weidle, B
Jozefiak, T
Ivarsson, T
Thomsen, PH
AF Weidle, Bernhard
Jozefiak, Thomas
Ivarsson, Tord
Thomsen, Per Hove
TI Quality of life in children with OCD with and without comorbidity
SO HEALTH AND QUALITY OF LIFE OUTCOMES
LA English
DT Article
DE Pediatric OCD; Quality of life; Comorbidity; Assessment
ID OBSESSIVE-COMPULSIVE DISORDER; NORWEGIAN SCHOOL-CHILDREN; AUTISM
SPECTRUM DISORDER; TOURETTE SYNDROME; FOLLOW-UP; FAMILY ACCOMMODATION;
THE-LITERATURE; ADOLESCENTS; HEALTH; SAMPLE
AB Background: Quality of life (QoL) is a well-established outcome measure. However, in contrast to adult obsessive-compulsive disorder (OCD), little is known about QoL in children with OCD. This study aimed to assess QoL, social competence and school functioning of paediatric patients with OCD by comparing them with the general population and assessing the relations between comorbidity, duration and severity of symptoms, family accommodation and QoL.
Methods: Children and adolescents (n = 135), aged 7-17 (mean 13 [SD 2.7] years; 48.1% female) were assessed at baseline for treatment. QoL was assessed by self-report and caregiver's proxy report on the Questionnaire for Measuring Health-related Quality of Life in Children and Adolescents (KINDL-R) and compared with an age-and sex-matched sample from the general population. Social competence and school functioning were assessed with the Child Behavior Checklist, comorbidity with the Kiddie Schedule for Affective Disorders and Schizophrenia (Present and Lifetime Version), severity of OCD with the Children's Yale-Brown Obsessive Compulsive Scale and the families' involvement with the child's OCD symptoms with the Family Accommodation Scale.
Results: QoL and social competence were reduced (p < .001) in patients with OCD compared with controls (KINDL-R mean score 62.40 [SD 13.00] versus 69.72 [12.38] in self-reports and 61.63 [SD 13.27] versus 74.68 [9.97] in parent reports). Patients with comorbidity had lower QoL (p = .001) in proxy ratings than those with OCD only (mean score 56.26 [SD 12.47] versus 64.30 [SD 12.75]). In parent proxy reports, severity of OCD (r = -.28) and family accommodation (r = -.40) correlated moderately negatively with QoL.
Conclusions: To our knowledge, this is the largest QoL study of paediatric OCD. QoL was markedly reduced in children with OCD, especially in those with comorbid psychiatric disorders. Based on our findings, we suggest employing QoL assessment in order to have a more comprehensive understanding of childhood OCD.
C1 [Weidle, Bernhard; Jozefiak, Thomas] St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, Trondheim, Norway.
[Weidle, Bernhard; Jozefiak, Thomas] Norwegian Univ Sci & Technol, Fac Med, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-7034 Trondheim, Norway.
[Ivarsson, Tord] Eastern & Southern Norway, Ctr Child & Adolescent Mental Hlth, N-0484 Oslo, Norway.
[Thomsen, Per Hove] Aarhus Univ Hosp, Psychiat Hosp Children & Adolescents, Risskov, Denmark.
RP Weidle, B (reprint author), St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, Trondheim, Norway.
EM bernhard.weidle@stolav.no
FU Norwegian Research Council; St. Olav's Hospital, Department of Child and
Adolescent Psychiatry, Trondheim
FX This study was funded with support by the Norwegian Research Council and
St. Olav's Hospital, Department of Child and Adolescent Psychiatry,
Trondheim. We wish to thank all patients, parents, and the participating
clinics for their contribution to the study.
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NR 48
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1477-7525
J9 HEALTH QUAL LIFE OUT
JI Health Qual. Life Outcomes
PD OCT 29
PY 2014
VL 12
AR 152
DI 10.1186/s12955-014-0152-x
PG 12
WC Health Care Sciences & Services; Health Policy & Services
SC Health Care Sciences & Services
GA AU1BH
UT WOS:000345355500001
PM 25358486
ER
PT J
AU Singh, K
Connors, SL
Macklin, EA
Smith, KD
Fahey, JW
Talalay, P
Zimmerman, AW
AF Singh, Kanwaljit
Connors, Susan L.
Macklin, Eric A.
Smith, Kirby D.
Fahey, Jed W.
Talalay, Paul
Zimmerman, Andrew W.
TI Sulforaphane treatment of autism spectrum disorder (ASD)
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID CLINICAL-TRIAL; CHILDREN; BROCCOLI; CHEMOPREVENTION; ACTIVATION;
ENZYMES; STRESS; CANCER; CHINA
AB Autism spectrum disorder (ASD), characterized by both impaired communication and social interaction, and by stereotypic behavior, affects about 1 in 68, predominantly males. The medico-economic burdens of ASD are enormous, and no recognized treatment targets the core features of ASD. In a placebo-controlled, double-blind, randomized trial, young men (aged 13-27) with moderate to severe ASD received the phytochemical sulforaphane (n = 29)-derived from broccoli sprout extracts-or indistinguishable placebo (n = 15). The effects on behavior of daily oral doses of sulforaphane (50-150 mu mol) for 18 wk, followed by 4 wk without treatment, were quantified by three widely accepted behavioral measures completed by parents/caregivers and physicians: the Aberrant Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Clinical Global Impression Improvement Scale (CGI-I). Initial scores for ABC and SRS were closely matched for participants assigned to placebo and sulforaphane. After 18 wk, participants receiving placebo experienced minimal change (<3.3%), whereas those receiving sulforaphane showed substantial declines (improvement of behavior): 34% for ABC (P < 0.001, comparing treatments) and 17% for SRS scores (P = 0.017). On CGI-I, a significantly greater number of participants receiving sulforaphane had improvement in social interaction, abnormal behavior, and verbal communication (P = 0.015-0.007). Upon discontinuation of sulforaphane, total scores on all scales rose toward pretreatment levels. Dietary sulforaphane, of recognized low toxicity, was selected for its capacity to reverse abnormalities that have been associated with ASD, including oxidative stress and lower antioxidant capacity, depressed glutathione synthesis, reduced mitochondrial function and oxidative phosphorylation, increased lipid peroxidation, and neuroinflammmation.
C1 [Singh, Kanwaljit; Connors, Susan L.; Zimmerman, Andrew W.] Harvard Univ, Sch Med, Massachusetts Gen Hosp Children, Lurie Ctr Autism,Dept Pediat, Lexington, MA 02421 USA.
[Singh, Kanwaljit; Zimmerman, Andrew W.] Univ Massachusetts, Sch Med, Dept Pediat Neurol, Worcester, MA 01655 USA.
[Macklin, Eric A.] Massachusetts Gen Hosp, Biostat Ctr, Dept Med, Boston, MA 02114 USA.
[Smith, Kirby D.] Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
[Fahey, Jed W.; Talalay, Paul] Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, Dept Pharmacol & Mol Sci, Baltimore, MD 21205 USA.
RP Talalay, P (reprint author), Johns Hopkins Univ, Sch Med, Lewis B & Dorothy Cullman Chemoprotect Ctr, Dept Pharmacol & Mol Sci, Baltimore, MD 21205 USA.
EM ptalalay@jhmi.edu; Andrew.Zimmerman@umassmemorial.org
FU Nancy Lurie Marks Family Foundation; Hussman Foundation; Lewis B. and
Dorothy Cullman Foundation; Agnes Gund Foundation; N of One Foundation;
Brassica Foundation for Chemoprotection Research
FX We thank the participants and their families who were consistently
interested and gave generously of their time; Scott Zeger for
discussions on biostatistics; Jessica Helt and Karmen Koesterer for
patient testing and Luisa Masclans for data collection; Ann Neumeyer,
who chaired the Data Safety Monitoring Board and was consulted regarding
safety and side effects; Jennifer Mullett for assisting with study
procedures; and Christine Ferrone and Lisa Nowinski for advising us on
regulatory matters and outcome measures. The quality of data collection,
retrieval, and analysis were certified by Quality Associates
Incorporated. The study was supported by gifts from the Nancy Lurie
Marks Family Foundation, the Hussman Foundation, the Lewis B. and
Dorothy Cullman Foundation, the Agnes Gund Foundation, the N of One
Foundation, and the Brassica Foundation for Chemoprotection Research.
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NR 39
TC 4
Z9 4
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD OCT 28
PY 2014
VL 111
IS 43
BP 15550
EP 15555
DI 10.1073/pnas.1416940111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZL
UT WOS:000343729500070
PM 25313065
ER
PT J
AU Jyonouchi, H
Geng, L
Davidow, AL
AF Jyonouchi, Harumi
Geng, Lee
Davidow, Amy L.
TI Cytokine profiles by peripheral blood monocytes are associated with
changes in behavioral symptoms following immune insults in a subset of
ASD subjects: an inflammatory subtype?
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE ASD; inflammatory subtype; NFA; GI symptoms; Cytokines; Neuroimmune
network
ID AUTISM SPECTRUM DISORDERS; PSYCHOMETRIC PROPERTIES; AUTOIMMUNE-DISEASES;
PB MONOCYTES; CHILDREN; SCHIZOPHRENIA; INTERLEUKIN-6; MICRORNAS;
CHECKLIST; ALLERGY
AB Background: Some children with autism spectrum disorders (ASD) are characterized by fluctuating behavioral symptoms following immune insults, persistent gastrointestinal (GI) symptoms, and a lack of response to the first-line intervention measures. These children have been categorized as the ASD-inflammatory subtype (ASD-IS) for this study. We reported a high prevalence of non-IgE mediated food allergy (NFA) in young ASD children before, but not all ASD/NFA children reveal such clinical features of ASD-IS. This study addressed whether behavioral changes of ASD-IS are associated with innate immune abnormalities manifested in isolated peripheral blood (PB) monocytes (Mo), major innate immune cells in the PB.
Methods: This study includes three groups of ASD subjects (ASD-IS subjects (N = 24), ASD controls with a history of NFA (ASD/NFA (N = 20), and ASD/non-NFA controls (N = 20)) and three groups of non-ASD controls (non-ASD/NFA subjects (N = 16), those diagnosed with pediatric acute onset-neuropsychiatric syndrome (PANS, N = 18), and normal controls without NFA or PANS (N = 16)). Functions of purified PB Mo were assessed by measuring the production of inflammatory and counter-regulatory cytokines with or without stimuli of innate immunity (lipopolysaccharide (LPS), zymosan, CL097, and candida heat extracts as a source of beta-lactam). In ASD-IS and PANS subjects, these assays were done in the state of behavioral exacerbation ('flare') and in the stable (` non-flare') condition. ASD-IS children in the ` flare' state revealed worsening irritability, lethargy and hyperactivity.
Results: ` Flare' ASD-IS PB Mo produced higher amounts of inflammatory cytokines (IL-1 beta and IL-6) without stimuli than ` non-flare' ASD-IS cells. With zymosan, ` flare' ASD-IS cells produced more IL-1 beta than most control cells, despite spontaneous production of large amounts of IL-1 beta. Moreover, ` flare' ASD-IS Mo produced less IL-10, a counterregulatory cytokine, in response to stimuli than ` non-flare' cells or other control cells. These changes were not observed in PANS cells.
Conclusions: We observed an imbalance in the production of inflammatory (IL-1 beta and IL-6) and counterregulatory (IL-10) cytokines by ` flare' ASD-IS monocytes, which may indicate an association between intrinsic abnormalities of PB Mo and changes in behavioral symptoms in the ASD-IS subjects.
C1 [Jyonouchi, Harumi; Geng, Lee] St Peters Univ Hosp, Dept Pediat, New Brunswick, NJ 08873 USA.
[Davidow, Amy L.] Rutgers State Univ, New Jersey Med Sch, Dept Publ Hlth, Newark, NJ 07101 USA.
RP Jyonouchi, H (reprint author), St Peters Univ Hosp, Dept Pediat, 254 Easton Ave, New Brunswick, NJ 08873 USA.
EM hjyonouchi@saintpetersuh.com
FU Jonty Foundation; St. Paul, MN, Autism Research Institute, San Diego,
CA; Governor's Council for Medical Research and Treatment of Autism, NJ
FX The authors are thankful to Dr. Lisa Huguenin for critically reviewing
this manuscript. This study was funded by the Jonty Foundation, St.
Paul, MN, Autism Research Institute, San Diego, CA, and the Governor's
Council for Medical Research and Treatment of Autism, NJ.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD OCT 27
PY 2014
VL 11
AR 187
DI 10.1186/s12974-014-0187-2
PG 13
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AW6KN
UT WOS:000346378500001
PM 25344730
ER
PT J
AU Leung, RC
Ye, AX
Wong, SM
Taylor, MJ
Doesburg, SM
AF Leung, Rachel C.
Ye, Annette X.
Wong, Simeon M.
Taylor, Margot J.
Doesburg, Sam M.
TI Reduced beta connectivity during emotional face processing in
adolescents with autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Functional connectivity; Autism spectrum disorders; Affect processing;
Neural oscillation; Magnetoencephalography; Social cognition; Neural
synchrony; Beta-band; Graph theory; Cognitive development; Face
processing
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; FACIAL EXPRESSIONS; BRAIN
NETWORKS; NEURONAL SYNCHRONY; ASPERGER-SYNDROME; NEURAL SYSTEMS;
CHILDREN; RECOGNITION; AMYGDALA
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social cognition. The biological basis of deficits in social cognition in ASD, and their difficulty in processing emotional face information in particular, remains unclear. Atypical communication within and between brain regions has been reported in ASD. Interregional phase-locking is a neurophysiological mechanism mediating communication among brain areas and is understood to support cognitive functions. In the present study we investigated interregional magnetoencephalographic phase synchronization during the perception of emotional faces in adolescents with ASD.
Methods: A total of 22 adolescents with ASD (18 males, mean age = 14.2 +/- 1.15 years, 22 right-handed) with mild to no cognitive delay and 17 healthy controls (14 males, mean age = 14.4 +/- 0.33 years, 16 right-handed) performed an implicit emotional processing task requiring perception of happy, angry and neutral faces while we recorded neuromagnetic signals. The faces were presented rapidly (80 ms duration) to the left or right of a central fixation cross and participants responded to a scrambled pattern that was presented concurrently on the opposite side of the fixation point. Task-dependent interregional phase-locking was calculated among source-resolved brain regions.
Results: Task-dependent increases in interregional beta synchronization were observed. Beta-band interregional phase-locking in adolescents with ASD was reduced, relative to controls, during the perception of angry faces in a distributed network involving the right fusiform gyrus and insula. No significant group differences were found for happy or neutral faces, or other analyzed frequency ranges. Significant reductions in task-dependent beta connectivity strength, clustering and eigenvector centrality (all P < 0.001) in the right insula were found in adolescents with ASD, relative to controls.
Conclusions: Reduced beta synchronization may reflect inadequate recruitment of task-relevant networks during emotional face processing in ASD. The right insula, specifically, was a hub of reduced functional connectivity and may play a prominent role in the inability to effectively extract emotional information from faces. These findings suggest that functional disconnection in brain networks mediating emotional processes may contribute to deficits in social cognition in this population.
C1 [Leung, Rachel C.; Ye, Annette X.; Wong, Simeon M.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Leung, Rachel C.; Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Dept Psychol, Toronto, ON M5S 3G3, Canada.
[Leung, Rachel C.; Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada.
[Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Fac Med, Inst Med Sci, Toronto, ON M5S 1A8, Canada.
[Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Fac Med, Dept Med Imaging, Toronto, ON M5T 1W7, Canada.
RP Leung, RC (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM rachel.leung@sickkids.ca
FU Matching Funds Program Hospital for Sick Children Foundation Student
Scholarship Program; Canadian Institutes of Health Research grant
[MOP-119541]
FX RCL was supported through a studentship by the Matching Funds Program
Hospital for Sick Children Foundation Student Scholarship Program. This
study was supported by a Canadian Institutes of Health Research grant
(grant number: MOP-119541) to MJT.
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NR 93
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 27
PY 2014
VL 5
AR 51
DI 10.1186/2040-2392-5-51
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JP
UT WOS:000344106500001
PM 25371811
ER
PT J
AU Alfawaz, HA
Bhat, RS
Al-Ayadhi, L
El-Ansary, AK
AF Alfawaz, Hanan A.
Bhat, Ramesa Shafi
Al-Ayadhi, Laila
El-Ansary, Afaf K.
TI Protective and restorative potency of Vitamin D on persistent
biochemical autistic features induced in propionic acid-intoxicated rat
pups
SO BMC COMPLEMENTARY AND ALTERNATIVE MEDICINE
LA English
DT Article
DE Vitamin D; Autism; Serotonin; Glutathione-s-transferase; Interferon
gamma; Comet DNA assay
ID D-RECEPTOR GENE; 1,25-DIHYDROXYVITAMIN D-3; SYNAPTIC-TRANSMISSION; ADULT
HIPPOCAMPUS; NERVOUS-SYSTEM; CLINICAL-TRIAL; GROWTH-FACTOR; CHILDREN;
CANCER; CALCIUM
AB Background: Reducing exposure to toxic environmental agents is a critical area of intervention. Prenatal or postnatal exposure to certain chemicals has been documented to increase the risk of autism spectrum disorder. Propionic acid (PA) found in some foods and formed as a metabolic product of gut microbiota has been reported to mediate the effects of autism. Results from animal studies may help to identify environmental contaminants and drugs that produce or prevent neurotoxicity, and may thereby aid in the treatment of neurodevelopmental disorders such as autism. The present study investigated the protective and/or therapeutic effects of vitamin D against brain intoxication induced by propionic acid (PPA) in rats.
Methods: Twenty-eight young male Western Albino rats were enrolled in the present study. They were grouped into four equal groups of 7. The control group received only phosphate buffered saline; the oral buffered PPA-treated group received a neurotoxic dose of 250 mg/kg body weight/day for 3 days; and the Vitamin D-protected group received 1000 IU/kg/day of alpha, 25-dihydroxyvitamin D (3) (1, 25-VD) for two weeks, after which the rats were injected with PPA 250 mg/Kg body weight/day for 3 days. The fourth group received PPA 250 mg/Kg body weight/day for 3 days followed by alpha, 25-dihydroxyvitamin D (3) (1, 25-VD) for two weeks (Vitamin D therapeutic effect). Vitamin D and calcium were measured in the plasma of the four studied groups. Serotonin, interferon gamma (IFN-gamma), glutathione-s-transferase activity and DNA double helix breaks were assayed in the brain tissue of the rats for all groups.
Results: The obtained data showed that the PPA-treated group demonstrated higher plasma vitamin D levels compared to the control rats, together with multiple signs of brain toxicity, as indicated by a depletion of serotonin (5HT), an increase in IFN-gamma and inhibition of glutathione-s-transferase activity as three biomarkers of brain dysfunction. Additionally, Comet DNA assays showed remarkably higher tail length, tail DNA % damage and tail moment as a neurotoxic effect of PPA.
Conclusions: Vitamin D showed a greater protective than therapeutic effect on PPA-induced neurotoxicity in rats, as there was a remarkable amelioration of the impaired biochemically measured parameters representing neurochemical, inflammation, and detoxification processes.
C1 [Alfawaz, Hanan A.] King Saud Univ, Coll Food & Agr Sci, Dept Food Sci & Nutr, Riyadh, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[Bhat, Ramesa Shafi; El-Ansary, Afaf K.] King Saud Univ, Coll Sci, Biochem Dept, Riyadh 11495, Saudi Arabia.
[Alfawaz, Hanan A.] King Saud Univ, Coll Sci, Dept Biochem, Prince Mutaib Chair Biomarkers Osteoporosis, Riyadh 11451, Saudi Arabia.
RP El-Ansary, AK (reprint author), King Saud Univ, Coll Sci, Biochem Dept, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU "Research Center of the Center for Female Scientific and Medical
Colleges", Deanship of Scientific Research, King Saud University
FX This research project was supported by a grant from the "Research Center
of the Center for Female Scientific and Medical Colleges", Deanship of
Scientific Research, King Saud University.
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Standing Committee on the Scientific Evaluation of Dietary Reference Intakes, 1997, DIET REF INT CALC PH
NR 46
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1472-6882
J9 BMC COMPLEM ALTERN M
JI BMC Complement. Altern. Med.
PD OCT 25
PY 2014
VL 14
AR 416
DI 10.1186/1472-6882-14-416
PG 10
WC Integrative & Complementary Medicine
SC Integrative & Complementary Medicine
GA AX9AW
UT WOS:000347197500002
PM 25344727
ER
PT J
AU Sadowski, RN
Wise, LM
Park, PY
Schantz, SL
Juraska, JM
AF Sadowski, R. N.
Wise, L. M.
Park, P. Y.
Schantz, S. L.
Juraska, J. M.
TI EARLY EXPOSURE TO BISPHENOL A ALTERS NEURON AND GLIA NUMBER IN THE RAT
PREFRONTAL CORTEX OF ADULT MALES, BUT NOT FEMALES
SO NEUROSCIENCE
LA English
DT Article
DE BPA; prefrontal cortex; neuron number; autism; glia number
ID SEXUALLY DIMORPHIC NUCLEUS; SPRAGUE-DAWLEY RATS; DEVELOPMENTAL EXPOSURE;
PERINATAL EXPOSURE; AUTISM SPECTRUM; CEREBRAL-CORTEX; PREOPTIC AREA;
CELL-DEATH; ENVIRONMENTAL ESTROGENS; GESTATIONAL EXPOSURE
AB Previous work has shown that exposure to bisphenol A (BPA) during early development can alter sexual differentiation of the brain in rodents, although few studies have examined effects on areas of the brain associated with cognition. The current study examined if developmental BPA exposure alters the total number of neurons and glia in the medial prefrontal cortex (mPFC) in adulthood. Pregnant Long-Evans rats were orally exposed to 0, 4, 40, or 400-mu g/kg BPA in corn oil throughout pregnancy. From postnatal days 1 to 9, pups were given daily oral doses of oil or BPA, at doses corresponding to those given during gestation. Brains were examined in adulthood, and the volume of layers 213 and layers 5/6 of the mPFC was parcellated. The density of neurons and glia in these layers was quantified stereologically with the optical disector, and density was multiplied by volume for each animal. Males exposed to 400-mu g/kg BPA were found to have increased numbers of neurons and glia in layers 5/6. Although there were no significant effects of BPA in layers 2/3, the pattern of increased neuron number in males exposed to 400-mu g/kg BPA was similar to that seen in layers 5/6. No effects of BPA were seen in females or in males exposed to the other doses of BPA. This study indicates that males are more susceptible to the long-lasting effects of BPA on anatomy of the mPFC, an area implicated in neurological disorders. (c) 2014 IBRO. Published by Elsevier Ltd. All rights reserved.
C1 [Sadowski, R. N.; Schantz, S. L.; Juraska, J. M.] Univ Illinois, Neurosci Program, Champaign, IL 61820 USA.
[Wise, L. M.; Park, P. Y.; Juraska, J. M.] Univ Illinois, Dept Psychol, Champaign, IL 61820 USA.
[Schantz, S. L.] Univ Illinois, Dept Comparat Biosci, Champaign, IL 61820 USA.
RP Juraska, JM (reprint author), Univ Illinois, Psychol Bldg,603 E Daniel St, Champaign, IL 61820 USA.
EM jjuraska@illinois.edu
FU Microscopy Suite at the Beckman Institute; NIEHS [P20 ES 018163, T32
ES007326]; EPA RD [83459301]
FX We thank Nioka Lowly and Wendy Koss for their assistance. We would also
like to thank the Microscopy Suite at the Beckman Institute for support
and use of their facilities ties and Ghazal Naseri Kouzehgarani for help
with the statistics. This work was supported by NIEHS P20 ES 018163, EPA
RD 83459301 Project 4, NIEHS T32 ES007326.
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NR 101
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD OCT 24
PY 2014
VL 279
BP 122
EP 131
DI 10.1016/j.neuroscience.2014.08.038
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AR5ON
UT WOS:000343633800011
PM 25193849
ER
PT J
AU Smith, KR
Kopeikina, KJ
Fawcett-Patel, JM
Leaderbrand, K
Gao, RQ
Schurmann, B
Myczek, K
Radulovic, J
Swanson, GT
Penzes, P
AF Smith, Katharine R.
Kopeikina, Katherine J.
Fawcett-Patel, Jessica M.
Leaderbrand, Katherine
Gao, Ruoqi
Schuermann, Britta
Myczek, Kristoffer
Radulovic, Jelena
Swanson, Geoffrey T.
Penzes, Peter
TI Psychiatric Risk Factor ANK3/Ankyrin-G Nanodomains Regulate the
Structure and Function of Glutamatergic Synapses
SO NEURON
LA English
DT Article
ID DENDRITIC SPINES; POSTSYNAPTIC DENSITY; BIPOLAR DISORDER; AMPA
RECEPTORS; NEUROPSYCHIATRIC DISORDERS; MOUSE MODELS; PLASTICITY; NECK;
ACTIN; ANK3
AB Recent evidence implicates glutamatergic synapses as key pathogenic sites in psychiatric disorders. Common and rare variants in the ANK3 gene, encoding ankyrin-G, have been associated with bipolar disorder, schizophrenia, and autism. Here we demonstrate that ankyrin-G is integral to AMPAR-mediated synaptic transmission and maintenance of spine morphology. Using superresolution microscopy we find that ankyrin-G forms distinct nanodomain structures within the spine head and neck. At these sites, it modulates mushroom spine structure and function, probably as a perisynaptic scaffold and barrier within the spine neck. Neuronal activity promotes ankyrin-G accumulation in distinct spine subdomains, where it differentially regulates NMDA receptor-dependent plasticity. These data implicate subsynaptic nanodomains containing a major psychiatric risk molecule, ankyrin-G, as having location-specific functions and open directions for basic and translational investigation of psychiatric risk molecules.
C1 [Smith, Katharine R.; Kopeikina, Katherine J.; Fawcett-Patel, Jessica M.; Gao, Ruoqi; Schuermann, Britta; Myczek, Kristoffer; Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
[Leaderbrand, Katherine; Radulovic, Jelena; Penzes, Peter] Northwestern Univ, Feinberg Sch Med, Dept Psychiat & Behav Sci, Chicago, IL USA.
[Radulovic, Jelena; Swanson, Geoffrey T.] Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL USA.
RP Penzes, P (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
EM p-penzes@northwestern.edu
FU Marie Curie Outgoing Postdoctoral Fellowship [302281]; [R01MH071316];
[R01MH097216]; [R01NS071952]; [R01MH078064]
FX This work was supported by R01MH071316, R01MH097216 to P. P.,
R01NS071952 to G. T. S., R01MH078064 to J.R., and a Marie Curie Outgoing
Postdoctoral Fellowship (302281) to K. R. S. We are grateful to Bryan
Copits and Claire Vernon for assistance with electrophysiology, Tristan
Hedrick for help with brain slicing, Vann Bennett for the goat ankyrin-G
Ab, and Karen Zito, Jubao Duan, and members of the P. P. lab for helpful
discussions. We thank NU Nikon Cell Imaging Facility for use of the
N-SIM and spinning-disc confocal and Teng Leong Chew, Constadina
Arvanitis, and Joshua Rappoport for assistance with imaging and
analysis. All experiments involving animals were performed according to
the Institutional Animal Care and Use Committee of NU.
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Xie Z, 2007, NEURON, V56, P640, DOI 10.1016/j.neuron.2007.10.005
Zhang X, 1998, J CELL BIOL, V142, P1571, DOI 10.1083/jcb.142.6.1571
NR 56
TC 3
Z9 3
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD OCT 22
PY 2014
VL 84
IS 2
BP 399
EP 415
DI 10.1016/j.neuron.2014.10.010
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA AS3HI
UT WOS:000344167900019
PM 25374361
ER
PT J
AU Li, SO
Wang, JL
Bjorklund, G
Zhao, WN
Yin, CH
AF Li, Si-ou
Wang, Jia-liang
Bjorklund, Geir
Zhao, Wei-na
Yin, Chang-hao
TI Serum copper and zinc levels in individuals with autism spectrum
disorders
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; copper; zinc; zinc; copper ratio
ID DISEASE; CHILDREN; METABOLISM; SELENIUM; SYSTEM; RISK
AB Trace elements play a critical role in the pathogenesis of autism spectrum disorders (ASD). The aim of this study was to investigate the serum levels of zinc (Zn) and copper (Cu) in Chinese children with ASD. Sixty patients (48 males, 12 females) diagnosed with ASD and 60 healthy sex-matched and age-matched control participants were assessed for serum Zn and Cu content at admission. The severity of ASD was also evaluated using the Childhood Autism Rating Scale (CARS) score. The results indicated that the mean serum Zn levels and Zn/Cu ratio were significantly lower in children with ASD compared with normal cases (P<0.001, respectively), whereas serum Cu levels were significantly higher (P<0.001). There was a significant negative association between Zn/Cu and CARS scores (r=-0.345, P=0.007). On the basis of the receiver operating characteristic curve, the optimal cut-off value of serum levels of Zn/Cu as an indicator for an auxiliary diagnosis of autism was projected to be 0.665, which yielded a sensitivity of 90.0% and a specificity of 91.7%; the area under the curve was 0.968 (95% confidence interval, 0.943-0.993). In conclusion, these results suggested an association between serum levels of Zn and Cu and ASD among Chinese patients, and the Zn/Cu ratio could be considered a biomarker of ASD.
C1 [Li, Si-ou; Wang, Jia-liang; Zhao, Wei-na; Yin, Chang-hao] Mudanjiang Med Univ, Hongqi Hosp, Dept Neurol, Mudianjiang 157011, Peoples R China.
[Bjorklund, Geir] Council Nutr & Environm Med, Mo I Rana, Norway.
RP Yin, CH (reprint author), Mudanjiang Med Univ, Hongqi Hosp, Dept Neurol, 5 Tongxiang Rd, Mudianjiang 157011, Peoples R China.
EM yinch1972@163.com
FU National Natural Science Foundation of China [81301188]; Natural Science
Foundation of Heilongjiang Province, China [QC2013C102]; Education
Department of Heilongjiang Province, China [12521579]
FX The project received the National Natural Science Foundation of China
(No. 81301188); the Natural Science Foundation of Heilongjiang Province,
China (No. QC2013C102); and the scientific research project of Education
Department of Heilongjiang Province, China (No. 12521579).
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NR 26
TC 4
Z9 4
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1216
EP 1220
DI 10.1097/WNR.0000000000000251
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700008
PM 25162784
ER
PT J
AU Roy, B
Ali, DW
AF Roy, Birbickram
Ali, Declan W.
TI Multiple types of GABAA responses identified from zebrafish Mauthner
cells
SO NEUROREPORT
LA English
DT Article
DE GABA; Mauthner cell; synapse; zebrafish
ID RECEPTORS; BRAIN; CURRENTS; NEURONS
AB -Aminobutyric acid (GABA) binds to ionotropic GABA(A) receptors to mediate fast inhibitory synaptic transmission in the central nervous system (CNS). GABA(A) receptors are pentameric structures composed of receptor subunits ((1-6), (1-3), (1-3), , epsilon, , , (1-3)) with various stoichiometries. They play important roles in the control of neural networks and are the pharmacological targets for the treatment of diseases such as epilepsy, autism, and schizophrenia. Thus far, there has been no report on GABA synaptic transmission in developing zebrafish. Here we used whole-cell patch-clamp electrophysiology to record GABA(A)-mediated miniature postsynaptic currents from the Mauthner cells of embryonic zebrafish. Spontaneous GABA(A) currents occurred infrequently and were low in amplitude (27.2 +/- 0.9pA). Analysis of their kinetics suggested the existence of three main types of events: the first (group I) is mediated by a single type of receptor with decay kinetics of 54 +/- 1.6ms; the second (group II) is also mediated by a single receptor type, but exhibits significantly longer decay kinetics (151 +/- 7.2ms); and the third type of synapse (group III) contains multiple receptor types with fast ((1)=28.7 +/- 2.5ms) and slow ((2)=153 +/- 11ms) kinetics. Thus, for the first time, we report the properties of GABA synaptic currents associated with the Mauthner cells of zebrafish.
C1 [Roy, Birbickram; Ali, Declan W.] Univ Alberta, Dept Biol Sci, Edmonton, AB T6G 2E9, Canada.
[Ali, Declan W.] Univ Alberta, Ctr Neurosci, Edmonton, AB T6G 2E9, Canada.
RP Ali, DW (reprint author), Univ Alberta, Dept Biol Sci, Biol Sci Bldg, Edmonton, AB T6G 2E9, Canada.
EM declan.ali@ualberta.ca
FU Natural Sciences and Engineering Research Council of Canada; Canadian
Foundation for Innovation
FX D.W.A. was supported by grants from the Natural Sciences and Engineering
Research Council of Canada and the Canadian Foundation for Innovation.
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NR 18
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1232
EP 1236
DI 10.1097/WNR.0000000000000258
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700011
PM 25162782
ER
PT J
AU Guillon, Q
Hadjikhani, N
Baduel, S
Kruck, J
Arnaud, M
Roge, B
AF Guillon, Quentin
Hadjikhani, Nouchine
Baduel, Sophie
Kruck, Jeanne
Arnaud, Mado
Roge, Bernadette
TI Both dog and human faces are explored abnormally by young children with
autism spectrum disorders
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; eye-tracking; face perception; hemispheric
lateralization
ID PERCEPTUAL BIASES; EYE-TRACKING; INDIVIDUALS; DURATION; INFANTS; SPEECH
AB When looking at faces, typical individuals tend to have a right hemispheric bias manifested by a tendency to look first toward the left visual hemifield. Here, we tested for the presence of this bias in young children with autism spectrum disorders (ASD) for both human and dog faces. We show that children with ASD do not show a left visual hemifield (right hemispheric) bias for human faces. In addition, we show that this effect extends to faces of dogs, suggesting that the absence of bias is not specific to human faces, but applies to all faces with the first-order configuration, pointing to an anomaly at an early stage of visual analysis of faces. The lack of right hemispheric dominance for face processing may reflect a more general disorder of cerebral specialization of social functions in ASD.
C1 [Guillon, Quentin; Baduel, Sophie; Kruck, Jeanne; Arnaud, Mado; Roge, Bernadette] Univ Toulouse, URI Octogone CERPP, F-31058 Toulouse 9, France.
[Hadjikhani, Nouchine] Harvard Univ, Sch Med, Martinos Ctr Biomed Imaging, MGH,MIT, Charlestown, MA USA.
[Hadjikhani, Nouchine] Gothenburg Univ, Gillberg Neuropsychiat Ctr, S-41124 Gothenburg, Sweden.
RP Guillon, Q (reprint author), Univ Toulouse, URI Octogone CERPP, 5 Allee Antonio Machado, F-31058 Toulouse 9, France.
EM quentin.guillon@univ-tlse2.fr
FU Fondation Orange; ESF COST Action Enhancing the scientific study of
Early Autism (ESSEA) [BM1004]; Rossi Foundation; Chaire d'Excellence
Pierre de Fermat
FX This work was supported by a doctoral scholarship to QG from the
Fondation Orange, by the ESF COST Action BM1004 Enhancing the scientific
study of Early Autism (ESSEA) and by the Rossi Foundation and a Chaire
d'Excellence Pierre de Fermat to N.H.
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NR 24
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0959-4965
EI 1473-558X
J9 NEUROREPORT
JI Neuroreport
PD OCT 22
PY 2014
VL 25
IS 15
BP 1237
EP 1241
DI 10.1097/WNR.0000000000000257
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AP8PK
UT WOS:000342340700012
PM 25162783
ER
PT J
AU Nakano, T
Nakatani, K
AF Nakano, Tamami
Nakatani, Kazuko
TI Cortical networks for face perception in two-month-old infants
SO PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Article
DE S cone; face perception; subcortical network
ID RETINAL GANGLION-CELLS; SPECTRAL SENSITIVITY; SUPERIOR COLLICULUS;
TRITAN STIMULI; AUTISM; PREFERENCE; RESPONSES; PATTERNS; SIGNALS; GAZE
AB Newborns have an innate system for preferentially looking at an upright human face. This face preference behaviour disappears at approximately one month of age and reappears a few months later. However, the neural mechanisms underlying this U-shaped behavioural change remain unclear. Here, we isolate the functional development of the cortical visual pathway for face processing using S-cone-isolating stimulation, which blinds the subcortical visual pathway. Using luminance stimuli, which are conveyed by both the subcortical and cortical visual pathways, the preference for upright faces was not observed in two-month-old infants, but it was observed in four-and six-month-old infants, confirming the recovery phase of the U-shaped development. By contrast, using S-cone stimuli, two-month-old infants already showed a preference for upright faces, as did four-and six-month-old infants, demonstrating that the cortical visual pathway for face processing is already functioning at the bottom of the U-shape at two months of age. The present results suggest that the transient functional deterioration stems from a conflict between the subcortical and cortical functional pathways, and that the recovery thereafter involves establishing a level of coordination between the two pathways.
C1 [Nakano, Tamami; Nakatani, Kazuko] Osaka Univ, Grad Sch Frontiers Biosci, Dynam Brain Network Lab, Suita, Osaka 5650871, Japan.
RP Nakano, T (reprint author), Osaka Univ, Grad Sch Frontiers Biosci, Dynam Brain Network Lab, 1-3 Yamadaoka, Suita, Osaka 5650871, Japan.
EM tamami_nakano@fbs.osaka-u.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology, Japan
[251195040]
FX This work was supported by the grant in aid for Scientific Research on
Innovative Areas 251195040 'Constructive Developmental Science' from the
Ministry of Education, Culture, Sports, Science and Technology, Japan to
T. N.
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NR 42
TC 1
Z9 1
PU ROYAL SOC
PI LONDON
PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND
SN 0962-8452
EI 1471-2954
J9 P ROY SOC B-BIOL SCI
JI Proc. R. Soc. B-Biol. Sci.
PD OCT 22
PY 2014
VL 281
IS 1793
DI 10.1098/rspb.2014.1468
PG 5
WC Biology; Ecology; Evolutionary Biology
SC Life Sciences & Biomedicine - Other Topics; Environmental Sciences &
Ecology; Evolutionary Biology
GA AO7VI
UT WOS:000341560300014
ER
PT J
AU Casanova, MF
Hensley, MK
Sokhadze, EM
El-Baz, AS
Wang, Y
Li, XL
Sears, L
AF Casanova, Manuel Fernando
Hensley, Marie K.
Sokhadze, Estate M.
El-Baz, Ayman S.
Wang, Yao
Li, Xiaoli
Sears, Lonnie
TI Effects of weekly low-frequency rTMS on autonomic measures in children
with autism spectrum disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; TMS; autonomic nervous system;
electrocardiogram; skin conductance
ID TRANSCRANIAL MAGNETIC STIMULATION; HEART-RATE-VARIABILITY;
NERVOUS-SYSTEM; PROCESSING ABNORMALITIES; MAJOR DEPRESSION; PDD-NOS;
TMS; DYSFUNCTION; RESPONSES; BALANCE
AB The term autism spectrum disorder (ASD) describes a range of conditions characterized by impairments in social interactions, communication, and by restricted and repetitive behaviors. Autism spectrum disorder may also present with symptoms suggestive of autonomic nervous system (ANS) dysfunction. The objective of this study was to determine the effect of 18 sessions of low frequency (LF) repetitive transcranial magnetic stimulation (rTMS) on autonomic function in children with ASD by recording electrocardiogram (ECG) and electrodermal activity (EDA) pre- post- and during each rTMS session. The autonomic measures of interest in this study were R-R cardiointervals in EKG (R-R), time and frequency domain measures of heart rate variability (HRV) and skin conductance level (SCL). Heart rate variability measures such as R-R intervals, standard deviation of cardiac intervals, pNN50 (percentage of cardiointervals >50 ms different from preceding interval), power of high frequency (HF) and LF components of HRV spectrum, LF/HF ratio, were then derived from the recorded EKG. We expected that the course of 18 weekly inhibitory LF rTMS applied to the dorsolateral prefrontal cortex (DLPFC) would enhance autonomic balance by facilitating frontal inhibition of limbic activity thus resulting in decreased overall heart rate (HR), increased HRV On a form of increased HF power), decreased LF power (resulting in decreased LF/HF ratio), and decreased SCL. Behavioral evaluations post-18 TMS showed decreased irritability, hyperactivity, stereotype behavior and compulsive behavior ratings while autonomic measures indicated a significant increase in cardiac interval variability and a decrease of tonic SCL. The results suggest that 18 sessions of LF rTMS in ASD results in increased cardiac vagal control and reduced sympathetic arousal.
C1 [Casanova, Manuel Fernando; Sokhadze, Estate M.; El-Baz, Ayman S.; Wang, Yao] Univ Louisville, Dept Psychiat & Behav Sci, Louisville, KY 40202 USA.
[Casanova, Manuel Fernando; Hensley, Marie K.; Sokhadze, Estate M.; El-Baz, Ayman S.] Univ Louisville, Dept Bioengn, Louisville, KY 40202 USA.
[Wang, Yao; Li, Xiaoli] Bejing Normal Univ, Coll Brain & Cognit Neurosci, Beijing, Peoples R China.
[Sears, Lonnie] Univ Louisville, Dept Pediat, Louisville, KY 40202 USA.
RP Casanova, MF (reprint author), Univ Louisville, Dept Psychiat & Behav Sci, 500 South Preston St, Louisville, KY 40202 USA.
EM m0casa02@louisville.edu
FU National Institutes of Health Eureka R01 grant [MH186784]
FX The study was partially supported by National Institutes of Health
Eureka R01 grant MH186784 to Manuel Fernando Casanova, M.D.
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NR 81
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD OCT 21
PY 2014
VL 8
AR 851
DI 10.3389/fnhum.2014.00851
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AR2HO
UT WOS:000343404700002
PM 25374530
ER
PT J
AU Robinson, EB
Samocha, KE
Kosmicki, JA
McGrath, L
Neale, BM
Perlis, RH
Daly, MJ
AF Robinson, Elise B.
Samocha, Kaitlin E.
Kosmicki, Jack A.
McGrath, Lauren
Neale, Benjamin M.
Perlis, Roy H.
Daly, Mark J.
TI Autism spectrum disorder severity reflects the average contribution of
de novo and familial influences
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE neuropsychiatric genetics; epidemiology; heterogeneity; phenotype
ID INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS; GENETIC RISK; MUTATIONS;
INTELLIGENCE; IDENTIFICATION; SCHIZOPHRENIA; EPIDEMIOLOGY; RECURRENCE;
STABILITY
AB Autism spectrum disorders (ASDs) are a highly heterogeneous group of conditions-phenotypically and genetically-although the link between phenotypic variation and differences in genetic architecture is unclear. This study aimed to determine whether differences in cognitive impairment and symptom severity reflect variation in the degree to which ASD cases reflect de novo or familial influences. Using data from more than 2,000 simplex cases of ASD, we examined the relationship between intelligence quotient (IQ), behavior and language assessments, and rate of de novo loss of function (LOF) mutations and family history of broadly defined psychiatric disease (depressive disorders, bipolar disorder, and schizophrenia; history of psychiatric hospitalization). Proband IQ was negatively associated with de novo LOF rate (P = 0.03) and positively associated with family history of psychiatric disease (P = 0.003). Female cases had a higher frequency of sporadic genetic events across the severity distribution (P = 0.01). High rates of LOF mutation and low frequencies of family history of psychiatric illness were seen in individuals who were unable to complete a traditional IQ test, a group with the greatest degree of language and behavioral impairment. These analyses provide strong evidence that familial risk for neuropsychiatric disease becomes more relevant to ASD etiology as cases become higher functioning. The findings of this study reinforce that there are many routes to the diagnostic category of autism and could lead to genetic studies with more specific insights into individual cases.
C1 [Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Daly, Mark J.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; McGrath, Lauren; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.
[Robinson, Elise B.; Samocha, Kaitlin E.; Kosmicki, Jack A.; Neale, Benjamin M.; Perlis, Roy H.; Daly, Mark J.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA.
[Samocha, Kaitlin E.] Harvard Univ, Sch Med, Program Genet & Genom, Boston, MA 02114 USA.
[Kosmicki, Jack A.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA.
[McGrath, Lauren] Amer Univ, Sch Educ Teaching & Hlth, Washington, DC 20016 USA.
[McGrath, Lauren; Perlis, Roy H.] Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[McGrath, Lauren; Perlis, Roy H.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
RP Robinson, EB (reprint author), Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM erobinson@atgu.mgh.harvard.edu
FU National Institutes of Mental Health [1K01MH099286-01A1]
FX We thank the families who took part in the Simons Simplex Collection
study and the clinicians who collected data at each of the study sites.
E. B. R. was funded by National Institutes of Mental Health Grant
1K01MH099286-01A1.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
TC 1
Z9 1
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD OCT 21
PY 2014
VL 111
IS 42
BP 15161
EP 15165
DI 10.1073/pnas.1409204111
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600056
PM 25288738
ER
PT J
AU Sinha, P
Kjelgaard, MM
Gandhi, TK
Tsourides, K
Cardinaux, AL
Pantazis, D
Diamond, SP
Held, RM
AF Sinha, Pawan
Kjelgaard, Margaret M.
Gandhi, Tapan K.
Tsourides, Kleovoulos
Cardinaux, Annie L.
Pantazis, Dimitrios
Diamond, Sidney P.
Held, Richard M.
TI Autism as a disorder of prediction
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE probabilistic processing; endophenotype; Markov models; theory;
heterogeneity
ID EYED VISUAL-ACUITY; SPECTRUM DISORDERS; BASAL GANGLIA; FUNCTIONING
AUTISM; ASPERGER-SYNDROME; MOTOR CONTROL; ANIMAL-MODEL; MUTANT MICE;
CHILDREN; BEHAVIOR
AB A rich collection of empirical findings accumulated over the past three decades attests to the diversity of traits that constitute the autism phenotypes. It is unclear whether subsets of these traits share any underlying causality. This lack of a cohesive conceptualization of the disorder has complicated the search for broadly effective therapies, diagnostic markers, and neural/genetic correlates. In this paper, we describe how theoretical considerations and a review of empirical data lead to the hypothesis that some salient aspects of the autism phenotype may be manifestations of an underlying impairment in predictive abilities. With compromised prediction skills, an individual with autism inhabits a seemingly "magical" world wherein events occur unexpectedly and without cause. Immersion in such a capricious environment can prove overwhelming and compromise one's ability to effectively interact with it. If validated, this hypothesis has the potential of providing unifying insights into multiple aspects of autism, with attendant benefits for improving diagnosis and therapy.
C1 [Sinha, Pawan; Kjelgaard, Margaret M.; Gandhi, Tapan K.; Tsourides, Kleovoulos; Cardinaux, Annie L.; Pantazis, Dimitrios; Diamond, Sidney P.; Held, Richard M.] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Kjelgaard, Margaret M.] Massachusetts Gen Hosp, Inst Hlth Profess, Dept Commun Sci & Disorders, Boston, MA 02129 USA.
[Gandhi, Tapan K.] Def Inst Physiol & Allied Sci, Dept Biomed Engn, New Delhi 110054, India.
RP Held, RM (reprint author), MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA.
EM heldd@neco.edu
FU Simons Center for the Social Brain at Massachusetts Institute of
Technology; Simons Foundation for Autism Research
FX We thank Drs. Helen Tager-Flusberg, Charles Nelson, and Geraldine Dawson
for discussions and several parents of children with autism for
comments. This work was supported by the Simons Center for the Social
Brain at Massachusetts Institute of Technology and by the Simons
Foundation for Autism Research.
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NR 110
TC 1
Z9 1
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD OCT 21
PY 2014
VL 111
IS 42
BP 15220
EP 15225
DI 10.1073/pnas.1416797111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600066
PM 25288765
ER
PT J
AU Sugathan, A
Biagioli, M
Golzio, C
Erdin, S
Blumenthal, I
Manavalan, P
Ragavendran, A
Brand, H
Lucente, D
Miles, J
Sheridan, SD
Stortchevoi, A
Kellis, M
Haggarty, SJ
Katsanis, N
Gusella, JF
Talkowski, ME
AF Sugathan, Aarathi
Biagioli, Marta
Golzio, Christelle
Erdin, Serkan
Blumenthal, Ian
Manavalan, Poornima
Ragavendran, Ashok
Brand, Harrison
Lucente, Diane
Miles, Judith
Sheridan, Steven D.
Stortchevoi, Alexei
Kellis, Manolis
Haggarty, Stephen J.
Katsanis, Nicholas
Gusella, James F.
Talkowski, Michael E.
TI CHD8 regulates neurodevelopmental pathways associated with autism
spectrum disorder in neural progenitors
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE CHD8; NPCs; RNA-seq; ChIP-seq; autism
ID DE-NOVO MUTATIONS; CANCER GENES; NETWORK; SCHIZOPHRENIA; CHROMATIN;
CHILDREN; KNOWLEDGEBASE; PREDICTION; GENETICS; REGIONS
AB Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis. We explored the transcriptional networks that CHD8 regulates in neural progenitor cells (NPCs) by reducing its expression and then integrating transcriptome sequencing (RNA sequencing) with genome-wide CHD8 binding (ChIP sequencing). Suppressing CHD8 to levels comparable with the loss of a single allele caused altered expression of 1,756 genes, 64.9% of which were up-regulated. CHD8 showed widespread binding to chromatin, with 7,324 replicated sites that marked 5,658 genes. Integration of these data suggests that a limited array of direct regulatory effects of CHD8 produced a much larger network of secondary expression changes. Genes indirectly down-regulated (i.e., without CHD8-binding sites) reflect pathways involved in brain development, including synapse formation, neuron differentiation, cell adhesion, and axon guidance, whereas CHD8-bound genes are strongly associated with chromatin modification and transcriptional regulation. Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development. We also find an intriguing enrichment of cancer-related gene sets among CHD8-bound genes (P < 10(-10)). In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations. These data indicate that heterozygous disruption of CHD8 precipitates a network of gene-expression changes involved in neurodevelopmental pathways in which many ASD-associated genes may converge on shared mechanisms of pathogenesis.
C1 [Sugathan, Aarathi; Biagioli, Marta; Erdin, Serkan; Blumenthal, Ian; Manavalan, Poornima; Ragavendran, Ashok; Brand, Harrison; Lucente, Diane; Sheridan, Steven D.; Stortchevoi, Alexei; Haggarty, Stephen J.; Gusella, James F.; Talkowski, Michael E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA.
[Sugathan, Aarathi; Erdin, Serkan; Blumenthal, Ian; Ragavendran, Ashok; Brand, Harrison; Sheridan, Steven D.; Stortchevoi, Alexei; Haggarty, Stephen J.; Talkowski, Michael E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Sugathan, Aarathi; Biagioli, Marta; Brand, Harrison; Sheridan, Steven D.; Haggarty, Stephen J.; Talkowski, Michael E.] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA.
[Gusella, James F.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[Golzio, Christelle; Katsanis, Nicholas] Duke Univ, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Katsanis, Nicholas] Duke Univ, Dept Cell Biol, Durham, NC 27710 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Pediat, Columbia, MO 65201 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Med Genet, Columbia, MO 65201 USA.
[Miles, Judith] Univ Missouri Hosp & Clin, Thompson Ctr Autism & Neurodev Disorders, Dept Pathol, Columbia, MO 65201 USA.
[Kellis, Manolis] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.
[Kellis, Manolis; Haggarty, Stephen J.; Gusella, James F.; Talkowski, Michael E.] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.
RP Talkowski, ME (reprint author), Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA.
EM talkowski@chgr.mgh.harvard.edu
RI Erdin, Serkan/B-4988-2008
OI Erdin, Serkan/0000-0001-6587-2625
FU Simons Foundation for Autism Research; Nancy Lurie Marks Family
Foundation; NIH [MH095867, MH095088, GM061354]; March of Dimes; Charles
Hood Foundation; Brain and Behavioral Research Foundation; Autism
Genetic Resource Exchange; Autism Speaks; Pitt-Hopkins Research
Foundation
FX We thank Dr. Anshul Kundaje of Stanford University and the NIH Roadmap
Epigenomics Consortium (nihroadmap.nih.gov/epigenomics/) for providing
chromatin state data. This research was supported by the Simons
Foundation for Autism Research, the Nancy Lurie Marks Family Foundation,
NIH Grants MH095867, MH095088, and GM061354, the March of Dimes, Charles
Hood Foundation, the Brain and Behavioral Research Foundation, the
Autism Genetic Resource Exchange, Autism Speaks, and Pitt-Hopkins
Research Foundation. N.K. is a Distinguished Bromley Professor.
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NR 55
TC 6
Z9 6
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD OCT 21
PY 2014
VL 111
IS 42
BP E4468
EP E4477
DI 10.1073/pnas.1405266111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR0YN
UT WOS:000343302600012
PM 25294932
ER
PT J
AU Cockain, A
AF Cockain, Alex
TI Becoming quixotic? A discussion on the discursive construction of
disability and how this is maintained through social relations
SO DISABILITY & SOCIETY
LA English
DT Article
DE discourse; self-subjectifying practices; social relations; severe
learning difficulties; classification
ID AUTISM
AB Using an autoethnographic approach, this paper focuses upon interactions between 'Paul' (a pseudonym), whose symptoms associated with 'severe learning difficulties' are such that he is positioned on the low-functioning end of the autistic spectrum, his carers and others, in spaces taken for granted to be 'public' in both the United Kingdom and Hong Kong. This paper examines how social discourses relating to disability filter into social interactions, ultimately constructing the symptoms they purport to represent. This paper concludes by highlighting how interactions might be viewed as enabling rather than disabling, as producing spaces for thinking about the human condition.
C1 Hong Kong Polytech Univ, Dept Appl Social Sci, Hong Kong, Hong Kong, Peoples R China.
RP Cockain, A (reprint author), Hong Kong Polytech Univ, Dept Appl Social Sci, Hong Kong, Hong Kong, Peoples R China.
EM alex.cockain@polyu.edu.hk
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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 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PD OCT 21
PY 2014
VL 29
IS 9
BP 1473
EP 1485
DI 10.1080/09687599.2014.953245
PG 13
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AQ1AQ
UT WOS:000342514200010
ER
PT J
AU Mosher, CP
Zimmerman, PE
Gothard, KM
AF Mosher, Clayton P.
Zimmerman, Prisca E.
Gothard, Katalin M.
TI Neurons in the Monkey Amygdala Detect Eye Contact during Naturalistic
Social Interactions
SO CURRENT BIOLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; PRIMATE AMYGDALA; MACACA-MULATTA; FACIAL
EXPRESSIONS; RECEPTIVE-FIELDS; SINGLE NEURONS; RESPONSES; CORTEX; FACES;
ATTENTION
AB Primates explore the visual world through eye-movement sequences. Saccades bring details of interest into the fovea, while fixations stabilize the image [1]. During natural vision, social primates direct their gaze at the eyes of others to communicate their own emotions and intentions and to gather information about the mental states of others [2]. Direct gaze is an integral part of facial expressions that signals cooperation or conflict over resources and social status [3-6]. Despite the great importance of making and breaking eye contact in the behavioral repertoire of primates, little is known about the neural substrates that support these behaviors. Here we show that the monkey amygdala contains neurons that respond selectively to fixations on the eyes of others and to eye contact. These "eye cells" share several features with the canonical, visually responsive neurons in the monkey amygdala; however, they respond to the eyes only when they fall within the fovea of the viewer, either as a result of a deliberate saccade or as eyes move into the fovea of the viewer during a fixation intended to explore a different feature. The presence of eyes in peripheral vision fails to activate the eye cells. These findings link the primate amygdala to eye movements involved in the exploration and selection of details in visual scenes that contain socially and emotionally salient features.
C1 [Mosher, Clayton P.] Univ Arizona, Grad Interdisciplinary Program Neurosci, Tucson, AZ 85724 USA.
[Zimmerman, Prisca E.; Gothard, Katalin M.] Univ Arizona, Coll Med, Dept Physiol, Tucson, AZ 85724 USA.
RP Gothard, KM (reprint author), Univ Arizona, Coll Med, Dept Physiol, Tucson, AZ 85724 USA.
EM gothard94@gmail.com
FU NSF graduate research fellowship; [R21 NIMH 086065]; [P50MH100023]
FX We thank Lisa Parr for sharing with us her video footage from Cayo
Santiago. We thank Miranda Anderson, Susma Ghimire, and Daniel Hill for
scoring ethograms that document the behavior of the viewers and the
movie monkeys. We thank C.J. Doane and the UAC animal care stuff for
outstanding veterinary care and support. Lastly, we thank Andy Fuglevand
and Ralph Adolphs for comments on the manuscript. This work was
supported by R21 NIMH 086065 and P50MH100023 to K.M.G. and an NSF
graduate research fellowship to C.P.M.
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NR 44
TC 3
Z9 3
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0960-9822
EI 1879-0445
J9 CURR BIOL
JI Curr. Biol.
PD OCT 20
PY 2014
VL 24
IS 20
BP 2459
EP 2464
DI 10.1016/j.cub.2014.08.063
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AS0HQ
UT WOS:000343959000029
PM 25283782
ER
PT J
AU Bitsika, V
Sharpley, CF
AF Bitsika, Vicki
Sharpley, Christopher F.
TI Which psychological resilience attributes are associated with lower
aspects of anxiety in boys with an autism spectrum disorder?
Implications for guidance and counselling interventions
SO BRITISH JOURNAL OF GUIDANCE & COUNSELLING
LA English
DT Article
DE treatment; autism; resilience; anxiety
ID HIGH-FUNCTIONING CHILDREN; PERVASIVE DEVELOPMENTAL DISORDERS;
ASPERGER-SYNDROME; SOCIAL ANXIETY; STRESS; ADOLESCENTS; PSYCHOPATHOLOGY;
STRENGTHS; SYMPTOMS
AB The effect of psychological resilience as a buffer against anxiety was investigated in a sample of 39 boys with high-functioning autism spectrum disorder (ASD) via individual online questionnaire responses to standardised inventories for assessing anxiety and psychological resilience. Ability to handle problems, make good decisions, think before acting and help others were the most powerful buffers against Generalised Anxiety Disorder, while thinking before acting significantly buffered social phobia. Believing that they were able to handle problems was significantly associated with less emotional anxiety about school, work or social activities, being irritable, unable to relax and fatigue. As well as describing the pathways between the components of psychological resilience and anxiety, these findings also suggest several specific directions for training programmes aimed at equipping boys with an ASD with skills to cope more effectively with anxiety.
C1 [Bitsika, Vicki; Sharpley, Christopher F.] Bond Univ, Ctr Autism Spectrum Disorders, Robina, Qld, Australia.
[Sharpley, Christopher F.] Univ New England, Brain Behav Res Grp, Armidale, NSW, Australia.
RP Sharpley, CF (reprint author), Bond Univ, Ctr Autism Spectrum Disorders, Univ Dr, Robina, Qld, Australia.
EM csharpley@onthenet.com.au
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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 0306-9885
EI 1469-3534
J9 BRIT J GUID COUNS
JI Brit. J. Guid. Couns.
PD OCT 20
PY 2014
VL 42
IS 5
BP 544
EP 556
DI 10.1080/03069885.2014.931929
PG 13
WC Psychology, Applied
SC Psychology
GA AQ4XP
UT WOS:000342804900007
ER
PT J
AU Hur, Y
Han, SB
Kang, SW
Lee, Y
AF Hur, Yeoun
Han, Sang Beom
Kang, Seung Woo
Lee, Youngshin
TI Quantitative Analysis of Porphyrins in Dried Blood Spots Using Liquid
Chromatography-tandem Mass Spectrometry with Pre-column Derivatization
SO BULLETIN OF THE KOREAN CHEMICAL SOCIETY
LA English
DT Article
DE Porphyrins; Liquid chromatography-tandem mass spectrometry; Dried blood
spot; Esterification; ASD (Autism Spectrum Disorder)
ID URINARY PORPHYRINS; PROFILES; AUTISM
C1 [Hur, Yeoun; Kang, Seung Woo; Lee, Youngshin] Int Sci Stand Inc, R&D Inst, Gangwon Do 200161, South Korea.
[Hur, Yeoun; Han, Sang Beom] Chung Ang Univ, Coll Pharm, Dept Pharmaceut Anal, Seoul 156756, South Korea.
RP Hur, Y (reprint author), Int Sci Stand Inc, R&D Inst, Gangwon Do 200161, South Korea.
EM hansb@cau.ac.kr
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NR 21
TC 0
Z9 0
PU KOREAN CHEMICAL SOC
PI SEOUL
PA 635-4 YEOGSAM-DONG, KANGNAM-GU, SEOUL 135-703, SOUTH KOREA
SN 0253-2964
EI 1229-5949
J9 B KOREAN CHEM SOC
JI Bull. Korean Chem. Soc.
PD OCT 20
PY 2014
VL 35
IS 10
BP 3103
EP 3106
DI 10.5012/bkcs.2014.35.10.3103
PG 4
WC Chemistry, Multidisciplinary
SC Chemistry
GA AQ5NT
UT WOS:000342856600043
ER
PT J
AU Morgan, JT
Barger, N
Amaral, DG
Schumann, CM
AF Morgan, John T.
Barger, Nicole
Amaral, David G.
Schumann, Cynthia M.
TI Stereological Study of Amygdala Glial Populations in Adolescents and
Adults with Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID MAJOR DEPRESSIVE DISORDER; TUMOR-NECROSIS-FACTOR; MICROGLIAL ACTIVATION;
IMMUNE-RESPONSE; POSTNATAL-DEVELOPMENT; INFANTILE-AUTISM; NEURAL
CIRCUITRY; FETAL-BRAIN; CHILDREN; FACE
AB The amygdala undergoes aberrant development in autism spectrum disorder (ASD). We previously found that there are reduced neuron numbers in the adult postmortem amygdala from individuals with ASD compared to typically developing controls. The current study is a comprehensive stereological examination of four non-neuronal cell populations: microglia, oligodendrocytes, astrocytes, and endothelial cells, in the same brains studied previously. We provide a detailed neuroanatomical protocol for defining each cell type that may be applied to other studies of the amygdala in neurodevelopmental and psychiatric disorders. We then assess whether cell numbers and average volumes differ between ASD and typically developing brains. We hypothesized that a reduction in neuron numbers in ASD might relate to altered immune function and/or aberrant microglial activation, as indicated by increased microglial number and cell body volume. Overall, average non-neuronal cell numbers and volumes did not differ between ASD and typically developing brains. However, there was evident heterogeneity within the ASD cohort. Two of the eight ASD brains displayed strong microglial activation. Contrary to our original hypothesis, there was a trend toward a positive correlation between neuronal and microglial numbers in both ASD and control cases. There were fewer oligodendrocytes in the amygdala of adult individuals with ASD ages 20 and older compared to typically developing controls. This finding may provide a possible sign of altered connectivity or impaired neuronal communication that may change across the lifespan in ASD.
C1 [Schumann, Cynthia M.] Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
RP Schumann, CM (reprint author), Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
EM cschumann@ucdavis.edu
FU National Institutes of Health [R01 MH41479, R01 MH097236, F32 MH088275];
Brain & Behavior Research Foundation NARSAD grant
FX This work was supported by the National Institutes of Health
(http://www.nih.gov) grants R01 MH41479, R01 MH097236, and F32 MH088275
and by a Brain & Behavior Research Foundation
(http://www.bbrfoundation.org) NARSAD grant. 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 64
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 17
PY 2014
VL 9
IS 10
AR e110356
DI 10.1371/journal.pone.0110356
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TF
UT WOS:000345204100067
PM 25330013
ER
PT J
AU Tan, LBG
Lo, BCY
Macrae, CN
AF Tan, Lucy B. G.
Lo, Barbara C. Y.
Macrae, C. Neil
TI Brief Mindfulness Meditation Improves Mental State Attribution and
Empathizing
SO PLOS ONE
LA English
DT Article
ID MIND; MECHANISMS; ATTENTION; AUTISM
AB The ability to infer and understand the mental states of others (i.e., Theory of Mind) is a cornerstone of human interaction. While considerable efforts have focused on explicating when, why and for whom this fundamental psychological ability can go awry, considerably less is known about factors that may enhance theory of mind. Accordingly, the current study explored the possibility that mindfulness-based meditation may improve people's mindreading skills. Following a 5-minute mindfulness induction, participants with no prior meditation experience completed tests that assessed mindreading and empathic understanding. The results revealed that brief mindfulness meditation enhanced both mental state attribution and empathic concern, compared to participants in the control group. These findings suggest that mindfulness may be a powerful technique for facilitating core aspects of social-cognitive functioning.
C1 [Tan, Lucy B. G.] Univ Queensland, Sch Med, Psychiat Discipline, Brisbane, Qld, Australia.
[Lo, Barbara C. Y.] Univ Hong Kong, Dept Psychol, Hong Kong, Hong Kong, Peoples R China.
[Macrae, C. Neil] Univ Aberdeen, Sch Psychol, Aberdeen AB9 1FX, Scotland.
RP Tan, LBG (reprint author), Univ Queensland, Sch Med, Psychiat Discipline, Brisbane, Qld, Australia.
EM lucy.tan@uq.edu.au
FU Australia Prime Minister's Endeavour Asia Award
FX LBGT was supported by an Australia Prime Minister's Endeavour Asia
Award. 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 32
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 17
PY 2014
VL 9
IS 10
AR e110510
DI 10.1371/journal.pone.0110510
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TF
UT WOS:000345204100086
PM 25329321
ER
PT J
AU Dumas, G
Soussignan, R
Hugueville, L
Martinerie, J
Nadel, J
AF Dumas, Guillaume
Soussignan, Robert
Hugueville, Laurent
Martinerie, Jacques
Nadel, Jacqueline
TI Revisiting mu suppression in autism spectrum disorder
SO BRAIN RESEARCH
LA English
DT Article
DE Mu-suppression; EEG; Autism spectrum disorder; Action observation;
Top-down inhibitory control
ID MIRROR-NEURON SYSTEM; DEFAULT MODE NETWORK; EEG ALPHA OSCILLATIONS;
CORTICAL ACTIVATION; SOCIAL COORDINATION; INHIBITORY CONTROL; BAND
OSCILLATIONS; MEG-DATA; BRAIN; IMITATION
AB Two aspects of the EEG literature lead us to revisit mu suppression in Autism Spectrum Disorder (ASD). First and despite the fact that the mu rhythm can be functionally segregated in two discrete sub-bands, 8-10 Hz and 10-12/13 Hz, mu-suppression in ASD has been analyzed as a homogeneous phenomenon covering the 8-13 Hz frequency. Second and although alpha-like activity is usually found across the entire scalp, ASD studies of action observation have focused on the central electrodes (C3/C4). The present study was aimed at testing on the whole brain the hypothesis of a functional dissociation of mu and alpha responses to the observation of human actions in ASD according to bandwidths. Electroencephalographic (EEG) mu and alpha responses to execution and observation of hand gestures were recorded on the whole scalp in high functioning subjects with ASD and typical subjects. When two bandwidths of the alpha-mu 8-13 Hz were distinguished, a different mu response to observation appeared for subjects with ASD in the upper sub-band over the sensorimotor cortex, whilst the lower sub-band responded similarly in the two groups. Source reconstructions demonstrated that this effect was related to a joint mu-suppression deficit over the occipito-parietal regions and an increase over the frontal regions. These findings suggest peculiarities in top-down response modulation in ASD and question the claim of a global dysfunction of the MNS in autism. This research also advocates for the use of finer grained analyses at both spatial and spectral levels for future directions in neurophysiological accounts of autism. (C) 2014 Published by Elsevier B.V.
C1 [Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] CNRS, UMR 7225, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques] INSERM, U1227, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] Inst Cerveau & Moelle Epiniere, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent; Martinerie, Jacques; Nadel, Jacqueline] Univ Paris 04, UPMC, UMR S1127, Paris, France.
[Dumas, Guillaume; Hugueville, Laurent] INRIA Paris Rocquencourt, ARAMIS Team, Paris, France.
[Soussignan, Robert] Univ Bourgogne Inra, UMR 6265, CNRS, Ctr Sci Gout & Alimentat, Dijon, France.
RP Dumas, G (reprint author), Inst Pasteur, 25 Rue Docteur Roux, F-75015 Paris, France.
EM guillaume.dumas@pasteur.fr; jacqueline.nadel@upmc.fr
FU Orange Foundation for Autism Spectrum Disorder
FX We thank Florence Bouchet for her generous assistance in the EEG
preparation, Mario Chavez for helpful comments in EEG analysis, and
Lionel Thivard for his medical assistance. The work of Guillaume Dumas
was supported by a postdoctoral grant of the Orange Foundation for
Autism Spectrum Disorder.
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NR 99
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD OCT 17
PY 2014
VL 1585
BP 108
EP 119
DI 10.1016/j.brainres.2014.08.035
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AR8QS
UT WOS:000343840300011
PM 25148709
ER
PT J
AU Gannon, RL
AF Gannon, Robert L.
TI Non-peptide oxytocin receptor ligands and hamster circadian wheel
running rhythms
SO BRAIN RESEARCH
LA English
DT Article
DE Autism; Anxiety; Depression; Schizophrenia; Biological rhythms
ID SUPRACHIASMATIC NUCLEUS; THERAPEUTIC IMPLICATIONS; SYRIAN-HAMSTERS;
VASOPRESSIN; IMMUNOREACTIVITY; HYPOTHALAMUS; BRAIN; RAT; ORGANIZATION;
POLYPEPTIDE
AB The synchronization of circadian rhythms in sleep, endocrine and metabolic functions with the environmental light cycle is essential for health, and dysfunction of this synchrony is thought to play a part in the development of many neurological disorders. There is a demonstrable need to develop new therapeutics for the treatment of neurological disorders such as depression and schizophrenia, and oxytocin is currently being investigated for this purpose. There are no published reports describing activity of oxytocin receptor ligands on mammalian circadian rhythms and that, then, is the purpose of this study. Non-peptide oxytocin receptor ligands that cross the blood brain barrier were systemically injected in hamsters to determine their ability to modulate light-induced phase advances and delays of circadian wheel running rhythms. The oxytocin receptor agonist WAY267464 (10 mg/kg) inhibited light induced phase advances of wheel running rhythms by 55%, but had no effect on light-induced phase delays. In contrast, the oxytocin receptor antagonist WAY162720 (10 mg/kg) inhibited light-induced phase delays by nearly 75%, but had no effect on light-induced phase advances. Additionally, WAY162720 was able to antagonize the inhibitory effects of WAY267464 on light-induced phase advances. These results are consistent for a role of oxytocin in the phase-delaying effects of light on circadian activity rhythms early in the night. Therefore, oxytocin may prove to be useful in developing therapeutics for the treatment of mood disorders with a concomitant dysfunction in circadian rhythms. Investigators should also be cognizant that oxytocin ligands may negatively affect circadian rhythms during clinical trials for other conditions. (C) 2014 Elsevier B.V. All rights reserved.
C1 Valdosta State Univ, Dept Biol, Valdosta, GA 31698 USA.
RP Gannon, RL (reprint author), Valdosta State Univ, Dept Biol, Valdosta, GA 31698 USA.
EM rlgannon@valdosta.edu
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NR 33
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD OCT 17
PY 2014
VL 1585
BP 184
EP 190
DI 10.1016/j.brainres.2014.08.034
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AR8QS
UT WOS:000343840300018
PM 25148710
ER
PT J
AU Takara, K
Kondo, T
AF Takara, Kiyoharu
Kondo, Tsuyoshi
TI Comorbid atypical autistic traits as a potential risk factor for suicide
attempts among adult depressed patients: a case-control study
SO ANNALS OF GENERAL PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; Adult; Atypical; Depressive episode; Suicide
attempt; Risk factor; Pervasive developmental disorder-not otherwise
specified; Suicide methods
ID SPECTRUM DISORDERS; PSYCHIATRIC COMORBIDITY; ASPERGERS SYNDROME;
FUNCTIONING AUTISM; CLINICAL-FEATURES; COMPLETED SUICIDE; YOUNG-ADULTS;
PDD-NOS; CHILDREN; ADOLESCENTS
AB Background: The present study aims to examine if autism spectrum disorder (ASD) is a risk factor for suicide attempts among adult depressed patients and to elucidate the characteristics of suicide attempts in adult depressed patients with ASD.
Methods: We conducted a case-control study. Subjects consisted of 336 retrospectively recruited first-time visit patients to our outpatient clinic with a current major depressive episode; 31 of the 336 patients had attempted suicide. The demographic backgrounds (i.e., age, gender, personal/family history of suicidality); specific psychopathology like bipolarity, agitation, and psychotic features; and comorbidity such as physical diseases, alcohol abuse, cluster B personality disorder, and ASD including pervasive developmental disorder not otherwise specified (PDD-NOS) were examined as potential risk factors for suicide attempts. We compared these variables between the suicide attempters and non-attempters. In addition, we compared suicide attempters to non-attempters within the ASD group and non-ASD group. Binary logistic regression analysis was performed using the significant independent variables from the comparisons between the suicide attempters and non-attempters, and the odds ratios (OR) and 95% confidence intervals (CI) were calculated.
Results: Logistic regression analysis demonstrated that agitation during a depressive episode (OR = 7.15, 95% CI = 2.88-17.74), past suicidal behaviors (OR = 4.32, 95% CI = 1.70-10.98), and comorbid PDD-NOS (OR = 4.04, 95% CI = 1.20-13.54) were significantly associated with suicide attempts. The most prevalent suicidal method was drug overdose (59.1%) among non-ASD attempters while hanging was the most prevalent (44.4%) in ASD attempters.
Conclusions: Depressed adults with comorbid atypical autistic traits are at higher risk for suicide attempts and may engage in methods that are more lethal.
C1 [Takara, Kiyoharu; Kondo, Tsuyoshi] Univ Ryukyus, Grad Sch Med, Dept Neuropsychiat, Nishihara, Okinawa 9030215, Japan.
RP Takara, K (reprint author), Univ Ryukyus, Grad Sch Med, Dept Neuropsychiat, 207 Uehara, Nishihara, Okinawa 9030215, Japan.
EM takarakiyo1018@gmail.com
FU Japanese Ministry of Education, Culture, Sports, Science and Technology
[25461736]
FX We are grateful to our patients and their parents for their voluntary
participation in our study and warm collaboration with us. This study
was supported by Grants-in-Aid from the Japanese Ministry of Education,
Culture, Sports, Science and Technology (25461736).
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NR 60
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-859X
J9 ANN GEN PSYCHIATR
JI Ann. Gen. Psychiatr.
PD OCT 16
PY 2014
VL 13
AR 33
DI 10.1186/s12991-014-0033-z
PG 8
WC Psychiatry
SC Psychiatry
GA CB5ZE
UT WOS:000349705700001
PM 25328535
ER
PT J
AU Yu, FQ
Ye, R
Sun, SY
Carretie, L
Zhang, L
Dong, Y
Zhu, CY
Luo, YJ
Wang, K
AF Yu, Fengqiong
Ye, Rong
Sun, Shiyue
Carretie, Luis
Zhang, Lei
Dong, Yi
Zhu, Chunyan
Luo, Yuejia
Wang, Kai
TI Dissociation of Neural Substrates of Response Inhibition to Negative
Information between Implicit and Explicit Facial Go/Nogo Tasks: Evidence
from an Electrophysiological Study
SO PLOS ONE
LA English
DT Article
ID INFERIOR FRONTAL-CORTEX; BORDERLINE PERSONALITY-DISORDER; AUTISM
SPECTRUM DISORDER; EVENT-RELATED POTENTIALS; EMOTION REGULATION;
COGNITIVE CONTROL; MAJOR DEPRESSION; TIME-COURSE; PREFRONTAL CORTEX;
INVOLUNTARY ATTENTION
AB Background: Although ample evidence suggests that emotion and response inhibition are interrelated at the behavioral and neural levels, neural substrates of response inhibition to negative facial information remain unclear. Thus we used event-related potential (ERP) methods to explore the effects of explicit and implicit facial expression processing in response inhibition.
Methods: We used implicit (gender categorization) and explicit emotional Go/Nogo tasks (emotion categorization) in which neutral and sad faces were presented. Electrophysiological markers at the scalp and the voxel level were analyzed during the two tasks.
Results: We detected a task, emotion and trial type interaction effect in the Nogo-P3 stage. Larger Nogo-P3 amplitudes during sad conditions versus neutral conditions were detected with explicit tasks. However, the amplitude differences between the two conditions were not significant for implicit tasks. Source analyses on P3 component revealed that right inferior frontal junction (rIFJ) was involved during this stage. The current source density (CSD) of rIFJ was higher with sad conditions compared to neutral conditions for explicit tasks, rather than for implicit tasks.
Conclusions: The findings indicated that response inhibition was modulated by sad facial information at the action inhibition stage when facial expressions were processed explicitly rather than implicitly. The rIFJ may be a key brain region in emotion regulation.
C1 [Yu, Fengqiong; Ye, Rong; Zhang, Lei; Zhu, Chunyan; Wang, Kai] Anhui Med Univ, Dept Med Psychol, Lab Cognit Neuropsychol, Hefei, Peoples R China.
[Sun, Shiyue] Beijing Forestry Univ, Sch Humanities & Social Sci, Beijing, Peoples R China.
[Carretie, Luis] Univ Autonoma Madrid, Fac Psychol, Madrid, Spain.
[Wang, Kai] Anhui Med Univ, Affiliated Hosp 1, Dept Neurol, Hefei, Peoples R China.
[Dong, Yi] Anhui Mental Hlth Ctr, Hefei, Peoples R China.
[Luo, Yuejia] Shenzhen Univ, Inst Social & Affect Neurosci, Shenzhen, Peoples R China.
RP Wang, K (reprint author), Anhui Med Univ, Dept Med Psychol, Lab Cognit Neuropsychol, Hefei, Peoples R China.
EM wangkai1964@126.com
RI Carretie, Luis/B-7290-2008
OI Carretie, Luis/0000-0001-7375-6739
FU National Natural Science Foundation of China [31000503, 91232717,
31100812, 81301176, 81300944]; Ministry of Science and Technology
[2011CB707805]
FX This research was supported by the National Natural Science Foundation
of China (31000503, 91232717, 31100812, 81301176, and 81300944) and the
Ministry of Science and Technology (2011CB707805). 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 87
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 16
PY 2014
VL 9
IS 10
AR e109839
DI 10.1371/journal.pone.0109839
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ9XC
UT WOS:000343210800043
PM 25330212
ER
PT J
AU Gombash, SE
Cowley, CJ
Fitzgerald, JA
Hall, JCE
Mueller, C
Christofi, FL
Foust, KD
AF Gombash, Sara E.
Cowley, Christopher J.
Fitzgerald, Julie A.
Hall, Jodie C. E.
Mueller, Christian
Christofi, Fedias L.
Foust, Kevin D.
TI Intravenous AAV9 efficiently transduces myenteric neurons in neonate and
juvenile mice
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Article
DE AAV9; adeno-associated virus; enteric nervous system; myenteric plexus;
functional gastrointestinal motility disorders; enteric glia; enteric
neuropathy; gene therapy
ID ENTERIC NERVOUS-SYSTEM; CHRONIC INTESTINAL PSEUDOOBSTRUCTION; SPINAL
MUSCULAR-ATROPHY; BLOOD-BRAIN-BARRIER; PARKINSONS-DISEASE; GENE-THERAPY;
GASTROINTESTINAL DISORDERS; GLIAL-CELLS; NONHUMAN-PRIMATES; MOUSE MODEL
AB Gene therapies for neurological diseases with autonomic or gastrointestinal involvement may require global gene expression. Gastrointestinal complications are often associated with Parkinson's disease and autism. Lewy bodies, a pathological hallmark of Parkinson's brains, are routinely identified in the neurons of the enteric nervous system (ENS) following colon biopsies from patients. The ENS is the intrinsic nervous system of the gut, and is responsible for coordinating the secretory and motor functions of the gastrointestinal tract. ENS dysfunction can cause severe patient discomfort, malnourishment, or even death as in intestinal pseudo-obstruction (Ogilvie syndrome). Importantly, ENS transduction following systemic vector administration has not been thoroughly evaluated. Here we show that systemic injection of AAV9 into neonate or juvenile mice results in transduction of 25-57% of ENS myenteric neurons. Transgene expression was prominent in choline acetyltransferase positive cells, but not within vasoactive intestinal peptide or neuronal nitric oxide synthase cells, suggesting a bias for cells involved in excitatory signaling. AAV9 transduction in enteric glia is very low compared to CNS astrocytes. Enteric glial transduction was enhanced by using a glial specific promoter. Furthermore, we show that AAV8 results in comparable transduction in neonatal mice to AAV9 though AAV1, 5, and 6 are less efficient. These data demonstrate that systemic AAV9 has high affinity for peripheral neural tissue and is useful for future therapeutic development and basic studies of the ENS.
C1 [Gombash, Sara E.; Cowley, Christopher J.; Fitzgerald, Julie A.; Foust, Kevin D.] Ohio State Univ, Dept Neurosci, Columbus, OH 43210 USA.
[Hall, Jodie C. E.] Ohio State Univ, Dept Neurosci, Ctr Brain & Spinal Cord Repair, Columbus, OH 43210 USA.
[Mueller, Christian] Univ Massachusetts, Sch Med, Dept Pediat, Gene Therapy Ctr, Worcester, MA USA.
[Christofi, Fedias L.] Ohio State Univ, Dept Anesthesiol, Columbus, OH 43210 USA.
RP Foust, KD (reprint author), Ohio State Univ, Dept Neurosci, 460 W 12th Ave,BRT 698, Columbus, OH 43210 USA.
EM kevin.foust@osumc.edu
FU NIH [T32# 5T32NS07798402]
FX Sara E. Gombash is supported by NIH T32# 5T32NS07798402.
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NR 64
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5099
J9 FRONT MOL NEUROSCI
JI Front. Molec. Neurosci.
PD OCT 15
PY 2014
VL 7
DI 10.3389/fnmo1.2014.00081
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AZ2LY
UT WOS:000348066200001
PM 25360081
ER
PT J
AU Althaus, M
Groen, Y
van der Schaft, L
Minderaa, RB
Tucha, O
Mulder, LJM
Wijers, AA
AF Althaus, Monika
Groen, Yvonne
van der Schaft, Lutske
Minderaa, Ruud B.
Tucha, Oliver
Mulder, Lambertus J. M.
Wijers, Albertus A.
TI Sex Differences in Orienting to Pictures with and without Humans:
Evidence from the Cardiac Evoked Response (ECR) and the Cortical Long
Latency Parietal Positivity (LPP)
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; HIGH-FUNCTIONING AUTISM; SPECTRUM QUOTIENT AQ;
HEART-RATE RESPONSES; EMPATHY QUOTIENT; SYSTEMATIZING QUOTIENT;
ASPERGER-SYNDROME; EMOTION; BRAIN; PERFORMANCE
AB Objective: This study investigated the effect of social relevance in affective pictures on two orienting responses, i.e. the evoked cardiac response (ECR), and a long latency cortical evoked potential (LPP) and whether this effect would differ between males and females. Assuming that orienting to affective social information is fundamental to experiencing affective empathy, associations between self-report measures of empathy and the two orienting responses were investigated.
Method: ECRs were obtained from 34 female and 30 male students, and LPPs from 25 female and 27 male students viewing 414 pictures from the International Affective Picture System. Pictures portrayed pleasant, unpleasant and neutral scenes with and without humans.
Results: Both the ECR and LPP showed the largest response to pictures with humans in unpleasant situations. For both measures, the responses to pictures with humans correlated with self-report measures of empathy. While we found a greater male than female responsiveness to the pictures without humans in the ECR, a greater female than male responsiveness was observed in the LPP response to pictures with humans.
Conclusion and Significance: The sensitivity of these orienting responses to social relevance and their differential contribution to the prediction of individual differences underline the validity of their combined use in clinical studies investigating individuals with social disabilities.
C1 [Althaus, Monika; van der Schaft, Lutske; Minderaa, Ruud B.] Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, NL-9713 AV Groningen, Netherlands.
[Groen, Yvonne; Tucha, Oliver; Mulder, Lambertus J. M.; Wijers, Albertus A.] Univ Groningen, Dept Psychol, NL-9712 TS Groningen, Netherlands.
RP Althaus, M (reprint author), Univ Groningen, Univ Med Ctr Groningen, Dept Child & Adolescent Psychiat, NL-9713 AV Groningen, Netherlands.
EM m.althaus@accare.nl
CR Abercrombie HC, 2008, NEUROBIOL LEARN MEM, V90, P644, DOI 10.1016/j.nlm.2008.08.001
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NR 40
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e108224
DI 10.1371/journal.pone.0108224
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200009
PM 25330003
ER
PT J
AU Nuytens, K
Tuand, K
Fu, QL
Stijnen, P
Pruniau, V
Meulemans, S
Vankelecom, H
Creemers, JWM
AF Nuytens, Kim
Tuand, Krizia
Fu, Quili
Stijnen, Pieter
Pruniau, Vincent
Meulemans, Sandra
Vankelecom, Hugo
Creemers, John W. M.
TI The Dwarf Phenotype in GH240B Mice, Haploinsufficient for the Autism
Candidate Gene Neurobeachin, Is Caused by Ectopic Expression of
Recombinant Human Growth Hormone
SO PLOS ONE
LA English
DT Article
ID LOCUS-CONTROL REGION; COPY NUMBER VARIANTS; SPECTRUM DISORDER;
SOMATOSTATIN; SECRETION; HYPOTHALAMUS; ACTIVATION; RECEPTORS; DELETION;
PATIENT
AB Two knockout mouse models for the autism candidate gene Neurobeachin (Nbea) have been generated independently. Although both models have similar phenotypes, one striking difference is the dwarf phenotype observed in the heterozygous configuration of the GH240B model that is generated by the serendipitous insertion of a promoterless human growth hormone (hGH) genomic fragment in the Nbea gene. In order to elucidate this discrepancy, the dwarfism present in this Nbea mouse model was investigated in detail. The growth deficiency in Nbea(+/-) mice coincided with an increased percentage of fat mass and a decrease in bone mineral density. Low but detectable levels of hGH were detected in the pituitary and hypothalamus of Nbea(+/-) mice but not in liver, hippocampus nor in serum. As a consequence, several members of the mouse growth hormone (mGH) signaling cascade showed altered mRNA levels, including a reduction in growth hormone-releasing hormone mRNA in the hypothalamus. Moreover, somatotrope cells were less numerous in the pituitary of Nbea(+/-) mice and both contained and secreted significantly less mGH resulting in reduced levels of circulating insulin-like growth factor 1. These findings demonstrate that the random integration of the hGH transgene in this mouse model has not only inactivated Nbea but has also resulted in the tissue-specific expression of hGH causing a negative feedback loop, mGH hyposecretion and dwarfism.
C1 [Nuytens, Kim; Tuand, Krizia; Stijnen, Pieter; Pruniau, Vincent; Meulemans, Sandra; Creemers, John W. M.] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.
[Nuytens, Kim; Tuand, Krizia; Creemers, John W. M.] Katholieke Univ Leuven, Leuven Autism Res Consortium LAuRes, Leuven, Belgium.
[Fu, Quili; Vankelecom, Hugo] Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium.
RP Creemers, JWM (reprint author), Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.
EM john.creemers@med.kuleuven.be
RI Tuand, Krizia/E-1657-2015
OI Tuand, Krizia/0000-0003-2670-5415
FU Fonds wetenschappelijk onderzoek [G1187213N]; het agentschap voor
innovatie, wetenschap en techniek [083312]; stichting Marguerite-Marie
Delacroix [PC-301]; KU Leuven interdisciplinary research applications
[IDO/08/13]
FX KT received funding from Fonds wetenschappelijk onderzoek (G1187213N;
www.fwo.be). KN received funding from het agentschap voor innovatie,
wetenschap en techniek (083312; www.iwt.be). JWMC received funding from
stichting Marguerite-Marie Delacroix (PC-301; www.stichtingdelacroix.be)
and from KU Leuven interdisciplinary research applications (IDO/08/13).
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 41
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e109598
DI 10.1371/journal.pone.0109598
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200043
PM 25333629
ER
PT J
AU Tao, VQ
Chan, KYK
Chu, YWY
Mok, GTK
Tan, TY
Yang, WL
Lee, SL
Tang, WF
Tso, WWY
Lau, ET
Kan, ASY
Tang, MH
Lau, YL
Chung, BHY
AF Tao, Victoria Q.
Chan, Kelvin Y. K.
Chu, Yoyo W. Y.
Mok, Gary T. K.
Tan, Tiong Y.
Yang, Wanling
Lee, So Lun
Tang, Wing Fai
Tso, Winnie W. Y.
Lau, Elizabeth T.
Kan, Anita S. Y.
Tang, Mary H.
Lau, Yu-lung
Chung, Brian H. Y.
TI The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong
Kong
SO PLOS ONE
LA English
DT Article
ID COMPARATIVE GENOMIC HYBRIDIZATION; AUTISM SPECTRUM DISORDERS;
PRADER-WILLI-SYNDROME; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY;
ARRAY CGH; CONGENITAL-ANOMALIES; MENTAL-RETARDATION; MEDICAL-MANAGEMENT;
DIAGNOSTIC-TEST
AB Objective: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.
Methods: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability'' based on established criteria.
Results: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are "evidence-based'' on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).
Conclusion: The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of similar to 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.
C1 [Tao, Victoria Q.; Chu, Yoyo W. Y.; Mok, Gary T. K.; Tan, Tiong Y.; Yang, Wanling; Lee, So Lun; Tso, Winnie W. Y.; Lau, Yu-lung; Chung, Brian H. Y.] Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
[Chan, Kelvin Y. K.; Kan, Anita S. Y.] Queen Mary Hosp, Dept Obstet & Gynecol, Hong Kong, Hong Kong, Peoples R China.
[Tan, Tiong Y.] Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv,Dept Paediat, Melbourne, Vic, Australia.
[Tang, Wing Fai; Lau, Elizabeth T.; Tang, Mary H.; Chung, Brian H. Y.] Univ Hong Kong, LKS Fac Med, Dept Obstet & Gynecol, Hong Kong, Hong Kong, Peoples R China.
RP Chung, BHY (reprint author), Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
EM bhychung@hku.hk
FU SK Yee Medical Foundation [211203, 212210]; SK Yee Medical Research
[20006551]; Overseas Training Fellowship - National Health and Medical
Research Council of Australia [607431]
FX The study was funded by SK Yee Medical Foundation 2011 (#211203), SK Yee
Medical Foundation 2012 (#212210), and SK Yee Medical Research 2012
(#20006551) applied by BHYC.(http://www.skyeemedicalfoundation.org/).
TYT was funded by an Overseas Training Fellowship (#607431) provided by
the National Health and Medical Research Council of Australia. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 47
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 15
PY 2014
VL 9
IS 10
AR e109629
DI 10.1371/journal.pone.0109629
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AX2IH
UT WOS:000346766200045
PM 25333781
ER
PT J
AU Chueh, HC
Chen, YT
AF Chueh, Ho-chia
Chen, Ya-Tung
TI Social Involvement: Deconstructing practices relating to the formation
of students who work with autistic children in a university
service-learning course
SO EDUCATIONAL PHILOSOPHY AND THEORY
LA English
DT Article
DE students who work with autism; civic engagement; service-learning
course; subjectivity; Foucault
ID NURSING PRACTICE; POWER; EDUCATION
AB Participation in service-learning courses has always been considered a part of the informal education in tertiary education worldwide. Originating from the assumption that service-learning courses increase students' civic engagement and bridge the gap between knowledge and practice, service-learning courses have gradually acquired the status of compulsory courses at universities. This being as it may be, it would seem that the nature of such courses would benefit from further analysis and discussion regarding their function in knowledge reproduction, and their role in teaching and education. The aim of this article is to examine and analyze a university service-learning course-the National Taiwan University (NTU) Star-Rain course with a commitment to serving children with autism-from a Foucaultian perspective, and reflect on how the process of putting knowledge during a service-learning course into practice comes to constitute the subjectivity of students who work with children who are autistic. We argue that the course under investigation has, in effect, become wholly entangled in the medical system's treatment of autism in Taiwan. The service-learning process involves knowledge acquisition as well as long-term, detailed, concrete hands-on experience, and shapes, in a very complete way, students' construction of their subject knowledge of autism.
C1 [Chueh, Ho-chia; Chen, Ya-Tung] Natl Taiwan Univ, Dept Biocommun & Dev, Taipei, Taiwan.
RP Chueh, HC (reprint author), Natl Taiwan Univ, Dept Biocommun & Dev, Taipei, Taiwan.
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NR 25
TC 0
Z9 0
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND
SN 0013-1857
EI 1469-5812
J9 EDUC PHILOS THEORY
JI Educ. Philos. Theory
PD OCT 15
PY 2014
VL 46
IS 12
BP 1366
EP 1380
DI 10.1080/00131857.2013.828581
PG 15
WC Education & Educational Research
SC Education & Educational Research
GA AR0EL
UT WOS:000343240500005
ER
PT J
AU Martin, J
Hamshere, ML
Stergiakouli, E
O'Donovan, MC
Thapar, A
AF Martin, Joanna
Hamshere, Marian L.
Stergiakouli, Evangelia
O'Donovan, Michael C.
Thapar, Anita
TI Genetic Risk for Attention-Deficit/Hyperactivity Disorder Contributes to
Neurodevelopmental Traits in the General Population
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Attention-deficit/hyperactivity disorder; autism spectrum disorder; Avon
Longitudinal Study of Parents and Children (ALSPAC); genetics; pragmatic
language; social communication
ID DEFICIT HYPERACTIVITY DISORDER; GENOME-WIDE ANALYSIS; AUTISTIC-LIKE
TRAITS; SPECTRUM DISORDERS; COMMUNITY TWIN; ADHD BEHAVIORS; CHILDREN;
ASSOCIATION; PREVALENCE; CHILDHOOD
AB Background: Attention-deficit/hyperactivity disorder (ADHD) can be viewed as the extreme end of traits in the general population. Epidemiological and twin studies suggest that ADHD frequently co-occurs with and shares genetic susceptibility with autism spectrum disorder (ASD) and ASD-related traits. The aims of this study were to determine whether a composite of common molecular genetic variants, previously found to be associated with clinically diagnosed ADHD, predicts ADHD and ASD-related traits in the general population.
Methods: Polygenic risk scores were calculated in the Avon Longitudinal Study of Parents and Children (ALSPAC) population sample (N = 8229) based on a discovery case-control genome-wide association study of childhood ADHD. Regression analyses were used to assess whether polygenic scores predicted ADHD traits and ASD-related measures (pragmatic language abilities and social cognition) in the ALSPAC sample. Polygenic scores were also compared in boys and girls endorsing any (rating >= 1) ADHD item (n = 3623).
Results: Polygenic risk for ADHD showed a positive association with ADHD traits (hyperactive-impulsive, p = .0039; inattentive, p = .037). Polygenic risk for ADHD was also negatively associated with pragmatic language abilities (p = .037) but not with social cognition (p = .43). In children with a rating >= 1 for ADHD traits, girls had a higher polygenic score than boys (p = .003).
Conclusions: These findings provide molecular genetic evidence that risk alleles for the categorical disorder of ADHD influence hyperactive-impulsive and attentional traits in the general population. The results further suggest that common genetic variation that contributes to ADHD diagnosis may also influence ASD-related traits, which at their extreme are a characteristic feature of ASD.
C1 [Martin, Joanna; Hamshere, Marian L.; O'Donovan, Michael C.; Thapar, Anita] Cardiff Univ, Sch Med, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
[Stergiakouli, Evangelia] Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England.
RP Thapar, A (reprint author), Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg,Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales.
EM thapar@cardiff.ac.uk
FU Wellcome Trust [092731]; United Kingdom Medical Research Council
FX The United Kingdom Medical Research Council and the Wellcome Trust
(Grant No. 092731) and the University of Bristol provide core support
for the Avon Longitudinal Study of Parents and Children. The United
Kingdom Medical Research Council also supports the authors.We thank Dr.
Stephan Collishaw for advice and comments on a draft of the manuscript.
We thank all the families who participated in this study; the midwives
for their help in recruiting the families; and the whole Avon
Longitudinal Study of Parents and Children team, which includes
interviewers, computer and laboratory technicians, clerical workers,
research scientists, volunteers, managers, receptionists, and nurses. We
thank Peter Holmans, Michael Owen, Kate Langley, Nigel Williams, Lindsey
Kent, and Michael Gill for their contributions to the original clinical
diagnostic data from which polygenic risk scores were derived; these
data were funded by the Wellcome Trust. We also thank the Psychiatric
Genomics Consortium attention-deficit/hyperactivity disorder group.
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NR 45
TC 6
Z9 6
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD OCT 15
PY 2014
VL 76
IS 8
BP 664
EP 671
DI 10.1016/j.biopsych.2014.02.013
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AQ8QL
UT WOS:000343094400012
PM 24673882
ER
PT J
AU Suhl, JA
Chopra, P
Anderson, BR
Bassell, GJ
Warren, ST
AF Suhl, Joshua A.
Chopra, Pankaj
Anderson, Bart R.
Bassell, Gary J.
Warren, Stephen T.
TI Analysis of FMRP mRNA target datasets reveals highly associated mRNAs
mediated by G-quadruplex structures formed via clustered WGGA sequences
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MENTAL-RETARDATION PROTEIN; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; GENE;
BINDING; AUTISM; IDENTIFICATION; DNA; SCHIZOPHRENIA; EXPRESSION
AB Fragile X syndrome, a common cause of intellectual disability and a well-known cause of autism spectrum disorder, is the result of loss or dysfunction of fragile X mental retardation protein (FMRP), a highly selective RNA-binding protein and translation regulator. A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP targets among genes implicated in idiopathic autism and schizophrenia. Several large-scale studies have attempted to identify mRNAs bound by FMRP through several methods, each generating a list of putative target genes, leading to distinct hypotheses by which FMRP recognizes its targets; namely, by RNA structure or sequence. However, no in depth analyses have been performed to identify the level of consensus among the studies. Here, we analyze four large FMRP target datasets to generate high-confidence consensus lists, and examine all datasets for sequence elements within the target RNAs to validate reported FMRP binding motifs (GACR, ACUK and WGGA). We found GACR to be highly enriched in FMRP datasets, while ACUK was not. The WGGA pattern was modestly enriched in several, but not all datasets. The previous association between FMRP and G-quadruplexes prompted the analysis of the distribution of WGGA in the target genes. Consistent with the requirements for G-quadruplex formation, we observed highly clustered WGGA motifs in FMRP targets compared with other genes, implicating both RNA structure and sequence in the recognition motif of FMRP. In addition, we generate a list of the top 40 FMRP targets associated with FXS-related phenotypes.
C1 [Suhl, Joshua A.; Chopra, Pankaj; Anderson, Bart R.; Warren, Stephen T.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Anderson, Bart R.; Bassell, Gary J.] Emory Univ, Sch Med, Dept Cell Biol, Atlanta, GA 30322 USA.
[Bassell, Gary J.] Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA 30322 USA.
RP Warren, ST (reprint author), Emory Univ, 615 Michael St,Whitehead Biomed Res Bldg Room 375, Atlanta, GA 30322 USA.
EM swarren@emory.edu
FU National Institutes of Health [HD24064, 1RO1MH085617, 1T32MH087977,
1F32NS083205]
FX This work was supported by the National Institutes of Health (HD24064 to
S.T.W., 1RO1MH085617 to G.J.B., 1T32MH087977 to J.A.S. and BRA., and
1F32NS083205 to BRA.).
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NR 36
TC 3
Z9 3
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 OCT 15
PY 2014
VL 23
IS 20
BP 5479
EP 5491
DI 10.1093/hmg/ddu272
PG 13
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9UO
UT WOS:000343202400015
PM 24876161
ER
PT J
AU Marger, L
Schubert, CR
Bertrand, D
AF Marger, L.
Schubert, C. R.
Bertrand, D.
TI Zinc: An underappreciated modulatory factor of brain function
SO BIOCHEMICAL PHARMACOLOGY
LA English
DT Article
DE Zinc; Ion channels; Transporters; Brain function; Neurotransmission
ID GENOME-WIDE ASSOCIATION; LIGAND-BINDING DOMAIN; DE-NOVO MUTATIONS;
NEURONAL NICOTINIC RECEPTORS; AUTISM SPECTRUM DISORDERS;
CENTRAL-NERVOUS-SYSTEM; BODY-MASS INDEX; ACRODERMATITIS-ENTEROPATHICA;
ALZHEIMERS-DISEASE; PHARMACOLOGICAL-PROPERTIES
AB The divalent cation, zinc is the second most abundant metal in the human body and is indispensable for life. Zinc concentrations must however, be tightly regulated as deficiencies are associated with multiple pathological conditions while an excess can be toxic.
Zinc plays an important role as a cofactor in protein folding and function, e.g. catalytic interactions, DNA recognition by zinc finger proteins and modulation ion channel activity. There are 24 mammalian proteins specific for zinc transport that are subdivided in two groups with opposing functions: ZnT proteins reduce cytosolic zinc concentration while ZIP proteins increase it. The mammalian brain contains a significant amount of zinc, with 5-15% concentrated in synaptic vesicles of glutamatergic neurons alone. Accumulated in these vesicles by the ZnT3 transporter, zinc is released into the synaptic cleft at concentrations from nanomolar at rest to high micromolar during active neurotransmission.
Low concentrations of zinc modulate the activity of a multitude of voltage- or ligand-gated ion channels, indicating that this divalent cation must be taken into account in the analysis of the pathophysiology of CNS disorders including epilepsy, schizophrenia and Alzheimer's disease.
In the context of the latest findings, we review the role of zinc in the central nervous system and discuss the relevance of the most recent association between the zinc transporter, ZIP8 and schizophrenia. An enhanced understanding of zinc transporters in the context of ion channel modulation may offer new avenues in identifying novel therapeutic entities that target neurological disorders. (C) 2014 Elsevier Inc. All rights reserved.
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NR 130
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0006-2952
EI 1873-2968
J9 BIOCHEM PHARMACOL
JI Biochem. Pharmacol.
PD OCT 15
PY 2014
VL 91
IS 4
BP 426
EP 435
DI 10.1016/j.bcp.2014.08.002
PG 10
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AQ2ZB
UT WOS:000342657400002
PM 25130547
ER
PT J
AU Libero, LE
Maximo, JO
Deshpande, HD
Klinger, LG
Klinger, MR
Kana, RK
AF Libero, Lauren E.
Maximo, Jose O.
Deshpande, Hrishikesh D.
Klinger, Laura G.
Klinger, Mark R.
Kana, Rajesh K.
TI The role of mirroring and mentalizing networks in mediating action
intentions in autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Action; Intention; Means; fMRI; Autism spectrum disorders; Mirror neuron
system; Theory-of-mind
ID FUNCTIONAL CONNECTIVITY MRI; TEMPORO-PARIETAL JUNCTION; SPECTRUM
DISORDERS; SOCIAL COGNITION; NEURON SYSTEM; PREFRONTAL CORTEX;
ASPERGER-SYNDROME; ACTION REPRESENTATION; PERSPECTIVE-TAKING; ACTION
RECOGNITION
AB Background: The ability to interpret agents' intent from their actions is a vital skill in successful social interaction. However, individuals with autism spectrum disorders (ASD) have been found to have difficulty in attributing intentions to others. The present study investigated the neural mechanisms of inferring intentions from actions in individuals with ASD.
Methods: Functional magnetic resonance imaging (fMRI) data were acquired from 21 high-functioning young adults with ASD and 22 typically developing (TD) control participants, while making judgments about the means (how an action is performed) and intention (why an action is performed) of a model's actions.
Results: Across both groups of participants, the middle and superior temporal cortex, extending to temporoparietal junction, and posterior cingulate cortex, responded significantly to inferring the intent of an action, while inferior parietal lobule and occipital cortices were active for judgments about the means of an action. Participants with ASD had significantly reduced activation in calcarine sulcus and significantly increased activation in left inferior frontal gyrus, compared to TD peers, while attending to the intentions of actions. Also, ASD participants had weaker functional connectivity between frontal and posterior temporal regions while processing intentions.
Conclusions: These results suggest that processing actions and intentions may not be mutually exclusive, with reliance on mirroring and mentalizing mechanisms mediating action understanding. Overall, inferring information about others' actions involves activation of the mirror neuron system and theory-of-mind regions, and this activation (and the synchrony between activated brain regions) appears altered in young adults with ASD.
C1 [Libero, Lauren E.; Maximo, Jose O.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
[Deshpande, Hrishikesh D.] Univ Alabama Birmingham, Dept Radiol, Birmingham, AL 35294 USA.
[Klinger, Laura G.] Univ N Carolina, Sch Med, Treatment & Educ Autist & Commun Related Handicap, Chapel Hill, NC 27510 USA.
[Klinger, Mark R.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC 27599 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology Faculty funds; McNulty-Civitan Scientist
Award
FX The authors would like to thank Dr Marie Moore Channell, and Patrick
Powell for their help at different stages of this study. We would also
like to thank Dr Floris de Lange for generously providing the stimuli
for this study. This study was supported by the UAB Department of
Psychology Faculty funds and the McNulty-Civitan Scientist Award to RK.
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NR 100
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 14
PY 2014
VL 5
AR 50
DI 10.1186/2040-2392-5-50
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JL
UT WOS:000344106100001
PM 25352976
ER
PT J
AU Denessiouk, K
Permyakov, S
Denesyuk, A
Permyakov, E
Johnson, MS
AF Denessiouk, Konstantin
Permyakov, Sergei
Denesyuk, Alexander
Permyakov, Eugene
Johnson, Mark S.
TI Two Structural Motifs within Canonical EF-Hand Calcium-Binding Domains
Identify Five Different Classes of Calcium Buffers and Sensors
SO PLOS ONE
LA English
DT Article
ID CARDIAC TROPONIN-C; DOMINANT CONE DYSTROPHY; CRYSTAL-STRUCTURE; CA2+
BINDING; CONFORMATIONAL-CHANGES; ALZHEIMERS-DISEASE; REGULATORY DOMAIN;
ATOMIC-RESOLUTION; HYDROPHOBIC CORE; CALBINDIN D-9K
AB Proteins with EF-hand calcium-binding motifs are essential for many cellular processes, but are also associated with cancer, autism, cardiac arrhythmias, and Alzheimer's, skeletal muscle and neuronal diseases. Functionally, all EF-hand proteins are divided into two groups: (1) calcium sensors, which function to translate the signal to various responses; and (2) calcium buffers, which control the level of free Ca2+ ions in the cytoplasm. The borderline between the two groups is not clear, and many proteins cannot be described as definitive buffers or sensors. Here, we describe two highly-conserved structural motifs found in all known different families of the EF-hand proteins. The two motifs provide a supporting scaffold for the DxDxDG calcium binding loop and contribute to the hydrophobic core of the EF hand domain. The motifs allow more precise identification of calcium buffers and calcium sensors. Based on the characteristics of the two motifs, we could classify individual EF-hand domains into five groups: (1) Open static; (2) Closed static; (3) Local dynamic; (4) Dynamic; and (5) Local static EF-hand domains.
C1 [Denessiouk, Konstantin; Denesyuk, Alexander; Johnson, Mark S.] Abo Akad Univ, Dept Biosci, Turku, Finland.
[Permyakov, Sergei; Permyakov, Eugene] Russian Acad Sci, Inst Biol Instrumentat, Pushchino 142292, Russia.
RP Denessiouk, K (reprint author), Abo Akad Univ, Dept Biosci, Turku, Finland.
EM kdenessi@abo.fi
FU Stiftelsens for Abo Akademi Forskningsinstitut; Abo Akademi University
Center of Excellence Program in Cell Stress and Aging; Sigrid Juselius
Foundation; Joe, Pentti and Tor Borg Memorial Fund; Academy of Finland
(Bioinformatics Infrastructure Program of Biocenter Finland and FIRI
program); Molecular and Cellular Biology Program of the Russian Academy
of Sciences
FX This work was supported in part by grants from the Stiftelsens for Abo
Akademi Forskningsinstitut, Abo Akademi University Center of Excellence
Program in Cell Stress and Aging, the Sigrid Juselius Foundation, the
Joe, Pentti and Tor Borg Memorial Fund, the Academy of Finland
(Bioinformatics Infrastructure Program of Biocenter Finland and FIRI
program), and by a grant from the Molecular and Cellular Biology Program
of the Russian Academy of Sciences (EP). 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 88
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 14
PY 2014
VL 9
IS 10
AR e109287
DI 10.1371/journal.pone.0109287
PG 14
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR5ZW
UT WOS:000343662500029
PM 25313560
ER
PT J
AU Palmnas, MSA
Cowan, TE
Bomhof, MR
Su, J
Reimer, RA
Vogel, HJ
Hittel, DS
Shearer, J
AF Palmnaes, Marie S. A.
Cowan, Theresa E.
Bomhof, Marc R.
Su, Juliet
Reimer, Raylene A.
Vogel, Hans J.
Hittel, Dustin S.
Shearer, Jane
TI Low-Dose Aspartame Consumption Differentially Affects Gut
Microbiota-Host Metabolic Interactions in the Diet-Induced Obese Rat
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; PROTEIN-COUPLED RECEPTOR; INTESTINAL
MICROBIOTA; PROPIONIC-ACID; FATTY-ACIDS; RISK; ECOLOGY; ABSORPTION;
PROFILES; PRODUCT
AB Aspartame consumption is implicated in the development of obesity and metabolic disease despite the intention of limiting caloric intake. The mechanisms responsible for this association remain unclear, but may involve circulating metabolites and the gut microbiota. Aims were to examine the impact of chronic low-dose aspartame consumption on anthropometric, metabolic and microbial parameters in a diet- induced obese model. Male Sprague-Dawley rats were randomized into a standard chow diet (CH, 12% kcal fat) or high fat (HF, 60% kcal fat) and further into ad libitum water control (W) or low-dose aspartame (A, 5-7 mg/kg/d in drinking water) treatments for 8 week (n = 10-12 animals/treatment). Animals on aspartame consumed fewer calories, gained less weight and had a more favorable body composition when challenged with HF compared to animals consuming water. Despite this, aspartame elevated fasting glucose levels and an insulin tolerance test showed aspartame to impair insulin-stimulated glucose disposal in both CH and HF, independently of body composition. Fecal analysis of gut bacterial composition showed aspartame to increase total bacteria, the abundance of Enterobacteriaceae and Clostridium leptum. An interaction between HF and aspartame was also observed for Roseburia ssp wherein HF-A was higher than HF-W (P<0.05). Within HF, aspartame attenuated the typical HF-induced increase in the Firmicutes:Bacteroidetes ratio. Serum metabolomics analysis revealed aspartame to be rapidly metabolized and to be associated with elevations in the short chain fatty acid propionate, a bacterial end product and highly gluconeogenic substrate, potentially explaining its negative affects on insulin tolerance. How aspartame influences gut microbial composition and the implications of these changes on the development of metabolic disease require further investigation.
C1 [Palmnaes, Marie S. A.; Reimer, Raylene A.; Vogel, Hans J.; Hittel, Dustin S.; Shearer, Jane] Univ Calgary, Dept Biochem & Mol Biol, Calgary, AB, Canada.
[Palmnaes, Marie S. A.; Su, Juliet; Vogel, Hans J.] Univ Calgary, Dept Biol Sci, Calgary, AB T2N 1N4, Canada.
[Cowan, Theresa E.; Bomhof, Marc R.; Reimer, Raylene A.; Hittel, Dustin S.; Shearer, Jane] Univ Calgary, Fac Kinesiol, Calgary, AB, Canada.
RP Palmnas, MSA (reprint author), Univ Calgary, Dept Biochem & Mol Biol, Calgary, AB, Canada.
EM msapalmn@ucalgary.ca
FU National Science and Engineering Council of Canada Discovery Grant
FX Research was funded by a National Science and Engineering Council of
Canada Discovery Grant. H.J.V. currently holds the Lance Armstrong Chair
for Molecular Cancer Research. J.S. is an Alberta Innovates Health
Solutions Scholar. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 48
TC 3
Z9 3
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 14
PY 2014
VL 9
IS 10
AR e109841
DI 10.1371/journal.pone.0109841
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR5ZW
UT WOS:000343662500082
PM 25313461
ER
PT J
AU Duan, YT
Wang, SH
Song, J
Mironova, Y
Ming, GL
Kolodkin, AL
Giger, RJ
AF Duan, Yuntao
Wang, Shih-Hsiu
Song, Juan
Mironova, Yevgeniya
Ming, Guo-li
Kolodkin, Alex L.
Giger, Roman J.
TI Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born
hippocampal dentate granule cells
SO ELIFE
LA English
DT Article
ID CHONDROITIN SULFATE PROTEOGLYCANS; LAMINA-RESTRICTED PROJECTION;
SYNAPTIC PLASTICITY; DENDRITIC SPINES; NEURAL CIRCUITS; MOUSE MODELS;
MOSSY FIBERS; NEURONS; AUTISM; RECEPTOR
AB Human SEMAPHORIN 5A (SEMA5A) is an autism susceptibility gene, however its function in brain development is unknown. Here we show that mouse Sema5A negatively regulates synaptogenesis in early, developmentally-born, hippocampal dentate granule cells (GCs). Sema5A is strongly expressed by GCs and regulates dendritic spine density in a cell-autonomous manner. In the adult mouse brain, newly born Sema5A(-/-) GCs show an increase in dendritic spine density and increased AMPA-type synaptic responses. Sema5A signals through PlexinA2 co-expressed by GCs, and the PlexinA2-RasGAP activity is necessary to suppress spinogenesis. Like Sema5A(-/-) mutants, Plxna2(-/-) mice show an increase in GC glutamatergic synapses, and we show that Sema5A and Plxna2 genetically interact with respect to GC spine phenotypes. Sema5A(-/-) mice display deficits in social interaction, a hallmark of autism-spectrum-disorders. These experiments identify novel intra-dendritic Sema5A/PlexinA2 interactions that inhibit excitatory synapse formation in developmentally- and adult-born GCs, and they provide support for SEMA5A contributions to autism-spectrum-disorders.
C1 [Duan, Yuntao; Mironova, Yevgeniya; Giger, Roman J.] Univ Michigan, Sch Med, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA.
[Giger, Roman J.] Univ Michigan, Sch Med, Dept Neurol, Ann Arbor, MI 48109 USA.
[Wang, Shih-Hsiu; Song, Juan; Ming, Guo-li; Kolodkin, Alex L.] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA.
[Song, Juan; Ming, Guo-li] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21218 USA.
[Wang, Shih-Hsiu; Kolodkin, Alex L.] Howard Hughes Med Inst, Chevy Chase, MD USA.
RP Kolodkin, AL (reprint author), Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA.
EM kolodkin@jhmi.edu; rgiger@umich.edu
FU Maryland Stem Cell Research Fund; Miriam and Sheldon Adelson Medical
Research Foundation; [NS048271]; [HD069184]; [MH59199]; [NS081281]
FX We thank Yutaka Yoshida for providing us with the Plxna1-/-,
Plxna2-/- and Plxna3-/- mice, Fumikazu Suto for
PlexA2SD-Fc and PlexA4SD-Fc constructs and
anti-PlexA2 antiserum, and Andreas Puschel for the PlexA1(RasGAP-RR)
construct. We thank Onanong Chivatakarn and Ryota Matsuoka for their
help with the initial analysis of the Sema5A hippocampal formation,
Martin Riccomagno for assistance with viral vector injections, Xiao-Feng
Zhao for help with histochemical proceduers, and Dontais Johnson for
technical assistance. We thank Alcino Silva, Jack Parent, and members of
the Kolodkin and Giger laboratories for critical reading of the
manuscript. This work is supported by the Maryland Stem Cell Research
Fund (J.S. and G-I.M.); NS048271 and HD069184 (G-I.M.); MH59199
(A.L.K.); NS081281 (R.J.G.); and the Dr. Miriam and Sheldon Adelson
Medical Research Foundation (G-I.M. and R.J.G.). A.L.K. is an
investigator of the Howard Hughes Medical Institute.
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NR 57
TC 1
Z9 1
PU ELIFE SCIENCES PUBLICATIONS LTD
PI CAMBRIDGE
PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND
SN 2050-084X
J9 ELIFE
JI eLife
PD OCT 14
PY 2014
VL 3
DI 10.7554/eLife.04390
PG 64
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AR2MN
UT WOS:000343421600001
ER
PT J
AU Yasumura, M
Yoshida, T
Yamazaki, M
Abe, M
Natsume, R
Kanno, K
Uemura, T
Takao, K
Sakimura, K
Kikusui, T
Miyakawa, T
Mishina, M
AF Yasumura, Misato
Yoshida, Tomoyuki
Yamazaki, Maya
Abe, Manabu
Natsume, Rie
Kanno, Kouta
Uemura, Takeshi
Takao, Keizo
Sakimura, Kenji
Kikusui, Takefumi
Miyakawa, Tsuyoshi
Mishina, Masayoshi
TI IL1RAPL1 knockout mice show spine density decrease, learning deficiency,
hyperactivity and reduced anxiety-like behaviours
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LINKED MENTAL-RETARDATION; ACCESSORY PROTEIN-LIKE; EXCITATORY SYNAPSE
FORMATION; TYROSINE-PHOSPHATASE DELTA; INTELLECTUAL DISABILITY;
TRANSSYNAPTIC INTERACTION; GENETIC-BASIS; PTP-DELTA; RECEPTOR; FAMILY
AB IL-1 receptor accessory protein-like 1 (IL1RAPL1) is responsible for nonsyndromic intellectual disability and is associated with autism. IL1RAPL1 mediates excitatory synapse formation through trans-synaptic interaction with PTP delta. Here, we showed that the spine density of cortical neurons was significantly reduced in IL1RAPL1 knockout mice. The spatial reference and working memories and remote fear memory were mildly impaired in IL1RAPL1 knockout mice. Furthermore, the behavioural flexibility was slightly reduced in the T-maze test. Interestingly, the performance of IL1RAPL1 knockout mice in the rotarod test was significantly better than that of wild-type mice. Moreover, IL1RAPL1 knockout mice consistently exhibited high locomotor activity in all the tasks examined. In addition, open-space and height anxiety-like behaviours were decreased in IL1RAPL1 knockout mice. These results suggest that IL1RAPL1 ablation resulted in spine density decrease and affected not only learning but also behavioural flexibility, locomotor activity and anxiety.
C1 [Yasumura, Misato; Yoshida, Tomoyuki; Uemura, Takeshi; Mishina, Masayoshi] Univ Tokyo, Grad Sch Med, Dept Mol Neurobiol & Pharmacol, Tokyo, Japan.
[Yasumura, Misato] Univ Yamanashi, Liaison Acad, Sch Med, Chuo Ku, Yamanashi, Japan.
[Yoshida, Tomoyuki] Toyama Univ, Grad Sch Med & Pharmaceut Sci, Dept Mol Neurosci, Toyama 930, Japan.
[Yoshida, Tomoyuki] Japan Sci & Technol Agcy, PRESTO, Kawaguchi, Saitama, Japan.
[Yamazaki, Maya; Abe, Manabu; Natsume, Rie; Sakimura, Kenji] Niigata Univ, Brain Res Inst, Dept Cellular Neurobiol, Niigata, Japan.
[Kanno, Kouta; Kikusui, Takefumi] Azabu Univ, Sch Vet Med, Sagamihara, Kanagawa, Japan.
[Uemura, Takeshi] Shinshu Univ, Sch Med, Dept Mol & Cellular Physiol, Matsumoto, Nagano, Japan.
[Takao, Keizo; Miyakawa, Tsuyoshi] Natl Inst Phys Sci, Ctr Genet Anal Behav, Sect Behav Patterns, Okazaki, Aichi, Japan.
[Miyakawa, Tsuyoshi] Fujita Hlth Univ, Inst Comprehens Med Sci, Div Syst Med Sci, Toyoake, Aichi, Japan.
[Mishina, Masayoshi] Ritsumeikan Univ, Res Org Sci & Technol, Brain Sci Lab, Kusatsu, Shiga, Japan.
RP Mishina, M (reprint author), Univ Tokyo, Grad Sch Med, Dept Mol Neurobiol & Pharmacol, Tokyo, Japan.
EM mmishina@fc.ritsumei.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan [24249014, 22123008, 221S0003]; Japan Society for the Promotion of
Science (JSPS)
FX We thank T. Shiroshima, T. Kise, A. Nakakihara, M. Ishikawa and A. Imai
for technical assistance, and I. Yabe and E. Kushiya for help in
generation of IL1RAPL1 knockout mice. This work was supported by
Grant-in-Aid for Scientific Research (A) (KAKENHI Grant Number 24249014)
and Grant-in-Aid for Scientific Research on Innovative Areas (KAKENHI
Grant Numbers 22123008 and 221S0003) from the Ministry of Education,
Culture, Sports, Science and Technology (MEXT) of Japan and Japan
Society for the Promotion of Science (JSPS).
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NR 54
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD OCT 14
PY 2014
VL 4
AR 6613
DI 10.1038/srep06613
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ8OG
UT WOS:000343086000001
PM 25312502
ER
PT J
AU Tian, Y
Voineagu, I
Pasca, SP
Won, HJ
Chandran, V
Horvath, S
Dolmetsch, RE
Geschwind, DH
AF Tian, Yuan
Voineagu, Irina
Pasca, Sergiu P.
Won, Hyejung
Chandran, Vijayendran
Horvath, Steve
Dolmetsch, Ricardo E.
Geschwind, Daniel H.
TI Alteration in basal and depolarization induced transcriptional network
in iPSC derived neurons from Timothy syndrome
SO GENOME MEDICINE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; JOUBERT-SYNDROME; GENE-EXPRESSION;
INTELLECTUAL DISABILITY; OVER-REPRESENTATION; HIPPOCAMPAL-NEURONS;
SYNAPTIC ACTIVITY; CALCIUM-CHANNELS; AXON GROWTH; CREB
AB Background: Common genetic variation and rare mutations in genes encoding calcium channel subunits have pleiotropic effects on risk for multiple neuropsychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. To gain further mechanistic insights by extending previous gene expression data, we constructed co-expression networks in Timothy syndrome (TS), a monogenic condition with high penetrance for ASD, caused by mutations in the L-type calcium channel, Ca(v)1.2.
Methods: To identify patient-specific alterations in transcriptome organization, we conducted a genome-wide weighted co-expression network analysis (WGCNA) on neural progenitors and neurons from multiple lines of induced pluripotent stem cells (iPSC) derived from normal and TS (G406R in CACNA1C) individuals. We employed transcription factor binding site enrichment analysis to assess whether TS associated co-expression changes reflect calcium-dependent co-regulation.
Results: We identified reproducible developmental and activity-dependent gene co-expression modules conserved in patient and control cell lines. By comparing cell lines from case and control subjects, we also identified co-expression modules reflecting distinct aspects of TS, including intellectual disability and ASD-related phenotypes. Moreover, by integrating co-expression with transcription factor binding analysis, we showed the TS-associated transcriptional changes were predicted to be co-regulated by calcium-dependent transcriptional regulators, including NFAT, MEF2, CREB, and FOXO, thus providing a mechanism by which altered Ca2+ signaling in TS patients leads to the observed molecular dysregulation.
Conclusions: We applied WGCNA to construct co-expression networks related to neural development and depolarization in iPSC-derived neural cells from TS and control individuals for the first time. These analyses illustrate how a systems biology approach based on gene networks can yield insights into the molecular mechanisms of neural development and function, and provide clues as to the functional impact of the downstream effects of Ca2+ signaling dysregulation on transcription.
C1 [Tian, Yuan; Won, Hyejung; Chandran, Vijayendran; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst,Dept Neurol,Neurogenet Program, Los Angeles, CA 90095 USA.
[Tian, Yuan; Geschwind, Daniel H.] Univ Calif Los Angeles, Interdept PhD Program Bioinformat, Los Angeles, CA 90095 USA.
[Voineagu, Irina] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia.
[Pasca, Sergiu P.] Stanford Univ, Sch Med, Ctr Sleep Sci & Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Horvath, Steve; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA.
[Dolmetsch, Ricardo E.] Stanford Univ, Dept Neurobiol, Stanford, CA 94305 USA.
[Dolmetsch, Ricardo E.] Novartis Inst Biomed Res, Cambridge, MA 02139 USA.
RP Geschwind, DH (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst,Dept Neurol,Neurogenet Program, Los Angeles, CA 90095 USA.
EM dhg@mednet.ucla.edu
FU NIMH [5R01MH094714, 5R37MH060233, 5R01MH100027]; China Scholarship
Council; UCLA Graduate Division's Dissertation
FX We are grateful to A. Suleman for technical support on TFBS enrichment
analysis; N. N. Parikshak, and L. de la Torre-Ubieta for helpful
discussions and critical reading of the manuscript. This work is
supported by NIMH grants to DHG (5R01MH094714, 5R37MH060233, MERiT
award, and 5R01MH100027, Autism Center for Excellence network grant). YT
was supported by fellowships from the China Scholarship Council and UCLA
Graduate Division's Dissertation Year Fellowship.
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NR 87
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-994X
J9 GENOME MED
JI Genome Med.
PD OCT 10
PY 2014
VL 6
AR 75
DI 10.1186/s13073-014-0075-5
PG 16
WC Genetics & Heredity
SC Genetics & Heredity
GA AS9MY
UT WOS:000344567900001
PM 25360157
ER
PT J
AU Cappi, C
Hounie, AG
Mariani, DB
Diniz, JB
Silva, ART
Reis, VNS
Busso, AF
Silva, AG
Fidalgo, F
Rogatto, SR
Miguel, EC
Krepischi, AC
Brentani, H
AF Cappi, Carolina
Hounie, Ana Gabriela
Mariani, Daniel B.
Diniz, Juliana Belo
Silva, Aderbal R. T.
Reis, Viviane N. S.
Busso, Ariane F.
Silva, Amanda Goncalves
Fidalgo, Felipe
Rogatto, Silvia Regina
Miguel, Euripedes C.
Krepischi, Ana C.
Brentani, Helena
TI An Inherited Small Microdeletion at 15q13.3 in a Patient with Early-
Onset Obsessive-Compulsive Disorder
SO PLOS ONE
LA English
DT Article
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DE-NOVO CNVS; TOURETTE
SYNDROME; PSYCHIATRIC-DISORDERS; STRUCTURAL VARIATION;
MENTAL-RETARDATION; SCHIZOPHRENIA; GENES; VARIANTS
AB Copy number variations (CNVs) have been previously associated with several different neurodevelopmen al psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of pilot genorne-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 2 mentally healthy individuals, using array-based comparative enomic hybridization (aCGH) on 44K arrays. A small rare nal inherited microdeletion (-64 kb) was identified in chromosome 15q13.3 of one male patient with very early onset have OCD. The deletion encompassed part of the FA/IN1 gene, which is involved with the glutamatergic system This finding supports the hypothesis of a complex network of several genes expressed in the brain cant ibuting for h genetic risk of OCD, and also supports the glutamatergic involvement in OCD, which has been previsously reported in the literature.
C1 [Cappi, Carolina; Hounie, Ana Gabriela; Diniz, Juliana Belo; Silva, Aderbal R. T.; Reis, Viviane N. S.; Miguel, Euripedes C.; Brentani, Helena] Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, Brazil.
[Mariani, Daniel B.] Univ Sao Paulo, Inst Math & Stat, Inter Inst Grad Program Bioinformat, Sao Paulo, Brazil.
[Silva, Amanda Goncalves; Fidalgo, Felipe; Krepischi, Ana C.] AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil.
[Rogatto, Silvia Regina] Sao Paulo State Univ, Sch Med, Sao Paulo, Brazil.
[Hounie, Ana Gabriela] Univ Fed Sao Paulo, UPIA, Sao Paulo, Brazil.
RP Cappi, C (reprint author), Univ Sao Paulo, Sch Med, Inst & Dept Psychiat, Sao Paulo, Brazil.
EM carolinacappi@gmail.com
FU Foundation for Research Support of the State of Sao Paulo (FAPESP)
[2008/11537-7]; Brazilian National Council for Scientific and
Technological Development (CNPq) [MCT/CNPq 14/2008]
FX This study was supported by grants to Dras Cappi and Brentani from the
Foundation for Research Support of the State of Sao Paulo (FAPESP);
grant number 2008/11537-7, and from the Brazilian National Council for
Scientific and Technological Development (CNPq; protocol number MCT/CNPq
14/2008). The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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Xu B, 2009, P NATL ACAD SCI USA, V106, P16746, DOI 10.1073/pnas.0908584106
NR 58
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 10
PY 2014
VL 9
IS 10
AR e110198
DI 10.1371/journal.pone.0110198
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZS
UT WOS:000343730400121
PM 25303678
ER
PT J
AU Pellicano, E
Dinsmore, A
Charman, T
AF Pellicano, Elizabeth
Dinsmore, Adam
Charman, Tony
TI Views on Researcher-Community Engagement in Autism Research in the
United Kingdom: A Mixed-Methods Study
SO PLOS ONE
LA English
DT Article
ID PARTICIPATORY RESEARCH; CLINICAL-RESEARCH; HEALTH RESEARCH; INVOLVEMENT;
DISORDERS; SPECTRUM; EPIDEMIOLOGY; PARTNERSHIP; PREVALENCE; STRATEGIES
AB There has been a substantial increase in research activity on autism during the past decade. Research into effective ways of responding to the immediate needs of autistic people is, however, less advanced, as are efforts at translating basic science research into service provision. Involving community members in research is one potential way of reducing this gap. This study therefore investigated the views of community involvement in autism research both from the perspectives of autism researchers and of community members, including autistic adults, family members and practitioners. Results from a large-scale questionnaire study (n = 1,516) showed that researchers perceive themselves to be engaged with the autism community but that community members, most notably autistic people and their families, did not share this view. Focus groups/interviews with 72 participants further identified the potential benefits and remaining challenges to involvement in research, especially regarding the distinct perspectives of different stakeholders. Researchers were skeptical about the possibilities of dramatically increasing community engagement, while community members themselves spoke about the challenges to fully understanding and influencing the research process. We suggest that the lack of a shared approach to community engagement in UK autism research represents a key roadblock to translational endeavors.
C1 [Pellicano, Elizabeth; Dinsmore, Adam] Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1N 1AZ, England.
[Dinsmore, Adam] Wellcome Trust Res Labs, Strateg Planning & Policy Unit, London, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, Dept Psychol, London, England.
RP Pellicano, E (reprint author), Univ London, Inst Educ, Dept Psychol & Human Dev, CRAE, London WC1N 1AZ, England.
EM l.pellicano@ioe.ac.uk
FU Inge Wakehurst Foundation; Charles Wolfson Foundation; Waterloo
Foundation
FX This work was funded by the Inge Wakehurst Foundation, the Charles
Wolfson Foundation, and The Waterloo Foundation. The funders had no role
in the design of the study, collection and analysis of the data, or
preparation and review of the manuscript.
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NR 50
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 10
PY 2014
VL 9
IS 10
AR e109946
DI 10.1371/journal.pone.0109946
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AR6ZS
UT WOS:000343730400095
PM 25303222
ER
PT J
AU Dong, S
Walker, MF
Carriero, NJ
DiCola, M
Willsey, AJ
Ye, AY
Waqar, Z
Gonzalez, LE
Overton, JD
Frahm, S
Keaney, JF
Teran, NA
Dea, J
Mandell, JD
Bal, VH
Sullivan, CA
DiLullo, NM
Khalil, RO
Gockley, J
Yuksel, Z
Sertel, SM
Ercan-Sencicek, AG
Gupta, AR
Mane, SM
Sheldon, M
Brooks, AI
Roeder, K
Devlin, B
State, MW
Wei, LP
Sanders, SJ
AF Dong, Shan
Walker, Michael F.
Carriero, Nicholas J.
DiCola, Michael
Willsey, A. Jeremy
Ye, Adam Y.
Waqar, Zainulabedin
Gonzalez, Luis E.
Overton, John D.
Frahm, Stephanie
Keaney, John F., III
Teran, Nicole A.
Dea, Jeanselle
Mandell, Jeffrey D.
Bal, Vanessa Hus
Sullivan, Catherine A.
DiLullo, Nicholas M.
Khalil, Rehab O.
Gockley, Jake
Yuksel, Zafer
Sertel, Sinem M.
Ercan-Sencicek, A. Gulhan
Gupta, Abha R.
Mane, Shrikant M.
Sheldon, Michael
Brooks, Andrew I.
Roeder, Kathryn
Devlin, Bernie
State, Matthew W.
Wei, Liping
Sanders, Stephan J.
TI De Novo Insertions and Deletions of Predominantly Paternal Origin Are
Associated with Autism Spectrum Disorder
SO CELL REPORTS
LA English
DT Article
ID ZONE PROTEIN RIM1-ALPHA; MUTATIONS; NETWORKS; GENES
AB Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0-2.7; p = 0.03), are more common in female probands (p = 0.02), are enriched among genes encoding FMRP targets (p = 6 3 10(-9)), and arise predominantly on the paternal chromosome (p < 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release.
C1 [Dong, Shan; Ye, Adam Y.; Wei, Liping] Peking Univ, Sch Life Sci, Ctr Bioinformat, State Key Lab Prot & Plant Gene Res, Beijing 100871, Peoples R China.
[Dong, Shan; Willsey, A. Jeremy; Gockley, Jake; State, Matthew W.; Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA.
[Walker, Michael F.; Willsey, A. Jeremy; Dea, Jeanselle; Mandell, Jeffrey D.; Bal, Vanessa Hus; Khalil, Rehab O.; State, Matthew W.; Sanders, Stephan J.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA.
[Carriero, Nicholas J.] Yale Univ, Dept Comp Sci, WM Keck Biotechnol Resource Lab, Biomed High Performance Comp Ctr, New Haven, CT 06520 USA.
[DiCola, Michael; Frahm, Stephanie; Brooks, Andrew I.] Rutgers State Univ, Environm & Occupat Hlth Sci Inst, Piscataway, NJ 08854 USA.
[Ye, Adam Y.; Wei, Liping] Natl Inst Biol Sci, Beijing 102206, Peoples R China.
[Waqar, Zainulabedin; Gonzalez, Luis E.; Teran, Nicole A.; Sullivan, Catherine A.; DiLullo, Nicholas M.; Gupta, Abha R.; State, Matthew W.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06520 USA.
[Overton, John D.; Mane, Shrikant M.] Yale Univ, Sch Med, Yale Ctr Genom Anal, New Haven, CT 06520 USA.
[Overton, John D.] Regeneron Genet Ctr, Tarrytown, NY 10591 USA.
[Keaney, John F., III] Yale Univ, Sch Publ Hlth, Dept Chron Dis Epidemiol, New Haven, CT 06520 USA.
[Khalil, Rehab O.] Natl Res Ctr, Dept Res Children Special Needs, Cairo 11787, Egypt.
[Yuksel, Zafer] Gulhane Mil Med Acad, Dept Med Genet, TR-06010 Ankara, Turkey.
[Sertel, Sinem M.] Bilkent Univ, Dept Mol Biol & Genet, TR-06800 Ankara, Turkey.
[Ercan-Sencicek, A. Gulhan] Yale Univ, Dept Comp Sci, Yale Neurogenet Program, Dept Neurosurg, New Haven, CT 06520 USA.
[Gupta, Abha R.] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA.
[Sheldon, Michael] Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA.
[Sheldon, Michael] Rutgers State Univ, Inst Human Genet, Piscataway, NJ 08854 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Ray & Stephanie Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
[Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA.
[State, Matthew W.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06520 USA.
RP State, MW (reprint author), Yale Univ, Sch Med, Dept Genet, 333 Cedar St, New Haven, CT 06520 USA.
EM matthew.state@ucsf.edu; weilp@mail.cbi.pku.edu.cn;
stephan.sanders@ucsf.edu
FU Simons Foundation; CIHR (DRA); HHMI (International Student Research
Fellowship); NIMH [R37 MH057881]; National Center for Research Resources
[UL1 TR000142, KL2 TR000140]; National Natural Science Foundation of
China [31025014]; Ministry of Science and Technology of China
[2012CB837600]
FX We are grateful to the families participating in the Simons Foundation
Autism Research Initiative (SFARI) Simplex Collection (SSC). We thank
the SSC principal investigators A.L. Beaudet, R. Bernier, J.
Constantino, E.H. Cook, Jr., E. Fombonne, D. Geschwind, D.E. Grice, A.
Klin, D.H. Ledbetter, C. Lord, C.L. Martin, D.M. Martin, R. Maxim, J.
Miles, O. Ousley, B. Peterson, J. Piggot, C. Saulnier, M.W. State, W.
Stone, J.S. Sutcliffe, C.A. Walsh, and E. Wijsman. We also thank the
coordinators and staff of the SSC clinical sites, the SFARI staff, the
Rutgers University Cell and DNA Repository for accessing biomaterials,
N. Buenaventura and L. Chow for their help in administering the project
at UCSF, and T. Brooks-Boone, N. Wright-Davis, and M. Wojciechowski for
their help in administering the project at Yale. This work was supported
by grants from the Simons Foundation (to M.W.S.), the CIHR (DRA to
A.J.W.), the HHMI (International Student Research Fellowship to S.J.S.),
the NIMH (R37 MH057881 to K.R. and B.D.), and the National Center for
Research Resources (UL1 TR000142 and KL2 TR000140 to A.G.E.). L.W. was
supported by the National Natural Science Foundation of China (no.
31025014) and the Ministry of Science and Technology of China (no.
2012CB837600).
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NR 27
TC 5
Z9 5
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD OCT 9
PY 2014
VL 9
IS 1
BP 16
EP 23
DI 10.1016/j.celrep.2014.08.068
PG 8
WC Cell Biology
SC Cell Biology
GA AS7YP
UT WOS:000344468100003
PM 25284784
ER
PT J
AU Kumar, M
Duda, JT
Hwang, WT
Kenworthy, C
Ittyerah, R
Pickup, S
Brodkin, ES
Gee, JC
Abel, T
Poptani, H
AF Kumar, Manoj
Duda, Jeffery T.
Hwang, Wei-Ting
Kenworthy, Charles
Ittyerah, Ranjit
Pickup, Stephen
Brodkin, Edward S.
Gee, James C.
Abel, Ted
Poptani, Harish
TI High Resolution Magnetic Resonance Imaging for Characterization of the
Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum
Disorder
SO PLOS ONE
LA English
DT Article
ID WHITE-MATTER MICROSTRUCTURE; BALB/CJ MICE; DIFFUSION; SOCIABILITY;
CHILDREN; GENES; NLGN4; ABNORMALITIES; SEGMENTATION; PHENOTYPES
AB Autism spectrum disorders (ASD) comprise an etiologically heterogeneous set of neurodevelopmental disorders. Neuroligin-3 (NL-3) is a cell adhesion protein that mediates synapse development and has been implicated in ASD. We performed ex-vivo high resolution magnetic resonance imaging (MRI), including diffusion tensor imaging (DTI) and behavioral (social approach and zero maze) tests at 3 different time points (30, 50 and 70 days-of-age) on NL-3 and wild-type littermates to assess developmental brain abnormalities in NL-3 mice. MRI data were segmented in 39 different gray and white matter regions. Volumetric measurements, along with DTI indices from these segmented regions were also performed. After controlling for age and gender, the NL-3 knock-in animals demonstrated significantly reduced sociability and lower anxiety-related behavior in comparison to their wild type littermates. Significantly reduced volume of several white and gray matter regions in the NL-3 knock-in mice were also observed after considering age, gender and time point as covariates. These findings suggest that structural changes in the brain of NL-3 mice are induced by the mutation in the NL-3 gene. No significant differences in DTI indices were observed, which suggests that the NL-3 mutation may not have a profound effect on water diffusion as detected by DTI. The volumetric and DTI studies aid in understanding the biology of disrupting function on an ASD risk model and may assist in the development of imaging biomarkers for ASD.
C1 [Kumar, Manoj; Duda, Jeffery T.; Ittyerah, Ranjit; Pickup, Stephen; Gee, James C.; Poptani, Harish] Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Hwang, Wei-Ting] Univ Penn, Ctr Clin Epidemiol & Biostat, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA.
[Kenworthy, Charles; Abel, Ted] Univ Penn, Dept Biol, Philadelphia, PA 19104 USA.
[Brodkin, Edward S.] Univ Penn, Dept Psychiat, Ctr Neurobiol & Behav, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Poptani, H (reprint author), Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA.
EM Harish.Poptani@uphs.upenn.edu
FU Pennsylvania Department of Health (SAP) [4100042728]; [R01MH080718];
[R21HD058237]; [1P50MH096891 - subproject 6773]; [5-T32-MH017168]
FX This study was supported by R01MH080718 (ESB), R21HD058237 (HP),
1P50MH096891 -subproject 6773 (ESB and TA), 5-T32-MH017168 (TA) and the
Pennsylvania Department of Health (SAP # 4100042728, TA and ESB). 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 44
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 9
PY 2014
VL 9
IS 10
AR e109872
DI 10.1371/journal.pone.0109872
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200079
PM 25299583
ER
PT J
AU Lin, LY
AF Lin, Ling-Yi
TI Quality of Life of Taiwanese Adults with Autism Spectrum Disorder
SO PLOS ONE
LA English
DT Article
ID INTELLECTUAL DISABILITIES; EMPLOYMENT; INDIVIDUALS; CHILDHOOD; MEN
AB Background: To date, few recent studies have investigated the quality of life of adults with autism spectrum disorder (ASD). It remains unclear how individuals with ASD view their own quality of life.
Objective: The primary purpose of this study was to compare the quality of life scores among adults with ASD with those of a non-ASD control group and the Taiwanese health population reference group.
Methods: The study comprised 41 adults with ASD (M age = 26.9, SD = 5.0), and without intellectual disabilities (IQ>70). A comparison sample of 41 adults without ASD was selected by matching the age and sex of the participants with ASD. A validated measure, the Taiwanese version of the World Health Organization Quality of Life-BREF (WHOQOL-BREF), was used. Independent t-tests were performed to examine the differences in the quality of life between groups.
Results: The highest quality of life was scored in the environment domain, followed by the physical health and psychological health domains. The lowest quality of life score was found in the social relationship domain. Adults with ASD scored significantly lower in all domains than did the non-ASD control group. Additionally, adults with ASD scored significantly lower in the physical health, psychological health, and social relationship domains than did the Taiwanese health population reference group. Comorbid psychiatric disorders, self-rated health status, and perceived happiness were correlated with quality of life among adults with ASD.
Conclusion: The preliminary findings suggest that adults with ASD need more supportive social contexts and interventions to promote their quality of life. Based on our findings, social relationship must be considered in designing and applying treatment programs for adults with ASD.
C1 Natl Cheng Kung Univ, Coll Med, Dept Occupat Therapy, Tainan 70101, Taiwan.
RP Lin, LY (reprint author), Natl Cheng Kung Univ, Coll Med, Dept Occupat Therapy, Tainan 70101, Taiwan.
EM lingyi@mail.ncku.edu.tw
FU Taiwan National Science Council [NSC 101-2815-C-006-083-B, NSC
102-2314-B-006-068]
FX Support for this research was provided by grant NSC 101-2815-C-006-083-B
and NSC 102-2314-B-006-068 from the Taiwan National Science Council. The
funder had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 34
TC 2
Z9 2
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 9
PY 2014
VL 9
IS 10
AR e109567
DI 10.1371/journal.pone.0109567
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200061
PM 25299379
ER
PT J
AU Park, MJ
Aja, S
Li, Q
Degano, AL
Penati, J
Zhuo, J
Roe, CR
Ronnett, GV
AF Park, Min Jung
Aja, Susan
Li, Qun
Degano, Alicia L.
Penati, Judith
Zhuo, Justin
Roe, Charles R.
Ronnett, Gabriele V.
TI Anaplerotic Triheptanoin Diet Enhances Mitochondrial Substrate Use to
Remodel the Metabolome and Improve Lifespan, Motor Function, and
Sociability in MeCP2-Null Mice
SO PLOS ONE
LA English
DT Article
ID FAT OXIDATION DISORDERS; CPG-BINDING PROTEIN-2; RETT-SYNDROME; MOUSE
MODEL; PHOSPHOENOLPYRUVATE CARBOXYKINASE; PERMEABILITY TRANSITION;
ENTERAL METABOLISM; REPERFUSION INJURY; DISEASE; DYSFUNCTION
AB Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2). Symptoms range in severity and include psychomotor disabilities, seizures, ataxia, and intellectual disability. Symptom onset is between 6-18 months of age, a critical period of brain development that is highly energy-dependent. Notably, patients with RTT have evidence of mitochondrial dysfunction, as well as abnormal levels of the adipokines leptin and adiponectin, suggesting overall metabolic imbalance. We hypothesized that one contributor to RTT symptoms is energy deficiency due to defective nutrient substrate utilization by the TCA cycle. This energy deficit would lead to a metabolic imbalance, but would be treatable by providing anaplerotic substrates to the TCA cycle to enhance energy production. We show that dietary therapy with triheptanoin significantly increased longevity and improved motor function and social interaction in male mice hemizygous for Mecp2 knockout. Anaplerotic therapy in Mecp2 knockout mice also improved indicators of impaired substrate utilization, decreased adiposity, increased glucose tolerance and insulin sensitivity, decreased serum leptin and insulin, and improved mitochondrial morphology in skeletal muscle. Untargeted metabolomics of liver and skeletal muscle revealed increases in levels of TCA cycle intermediates with triheptanoin diet, as well as normalizations of glucose and fatty acid biochemical pathways consistent with the improved metabolic phenotype in Mecp2 knockout mice on triheptanoin. These results suggest that an approach using dietary supplementation with anaplerotic substrate is effective in improving symptoms and metabolic health in RTT.
C1 [Park, Min Jung; Aja, Susan; Li, Qun; Degano, Alicia L.; Roe, Charles R.; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Ctr Metab & Obes Res, Baltimore, MD 21218 USA.
[Park, Min Jung; Aja, Susan; Li, Qun; Degano, Alicia L.; Penati, Judith; Zhuo, Justin; Roe, Charles R.; Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD USA.
[Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA.
[Ronnett, Gabriele V.] Johns Hopkins Univ, Sch Med, Dept Biol Chem, Baltimore, MD 21205 USA.
[Degano, Alicia L.] Univ Nacl Cordoba, CIQUIBIC CONICET, Dept Quim Biol, RA-5000 Cordoba, Argentina.
[Ronnett, Gabriele V.] DGIST, Dept Brain Sci, Taegu, South Korea.
RP Aja, S (reprint author), Johns Hopkins Univ, Sch Med, Ctr Metab & Obes Res, Baltimore, MD 21218 USA.
EM saja1@jhmi.edu
FU SA; Daegu-Gyeongbuk Institute of Science and Technology (DGIST)
Convergence Science Center - Korean Ministry of Education, Science, and
Technology [10-BD-04]; National Institutes of Health National Institute
of Neurological Disorders and Stroke [R01 NS041079]; Agilent
Technologies Research [2703]
FX This work was supported by a Research Collaboration between SA and the
Daegu-Gyeongbuk Institute of Science and Technology (DGIST) Convergence
Science Center, funded by grant #10-BD-04 from Korean Ministry of
Education, Science, and Technology; by National Institutes of Health
National Institute of Neurological Disorders and Stroke Grant R01
NS041079 to GVR; and by Agilent Technologies Research Gift #2703 to GVR.
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 82
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 9
PY 2014
VL 9
IS 10
AR e109527
DI 10.1371/journal.pone.0109527
PG 22
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS0AP
UT WOS:000343941200056
PM 25299635
ER
PT J
AU Nakajima, M
Gorlich, A
Heintz, N
AF Nakajima, Miho
Goerlich, Andreas
Heintz, Nathaniel
TI Oxytocin Modulates Female Sociosexual Behavior through a Specific Class
of Prefrontal Cortical Interneurons
SO CELL
LA English
DT Article
ID TRANSLATIONAL PROFILING APPROACH; CNS CELL-TYPES; GABAERGIC NEURONS;
ESTROUS-CYCLE; AFFILIATIVE BEHAVIOR; GENE-EXPRESSION; SOCIAL-BEHAVIOR;
CEREBRAL-CORTEX; BRAIN-FUNCTION; DRIVER LINES
AB Human imaging studies have revealed that intranasal administration of the "prosocial" hormone oxytocin (OT) activates the frontal cortex, and this action of OT correlates with enhanced brain function in autism. Here, we report the discovery of a population of somatostatin (Sst)-positive, regular spiking interneurons that express the oxytocin receptor (OxtrINs). Silencing of OxtrINs in the medial prefrontal cortex (mPFC) of female mice resulted in loss of social interest in male mice specifically during the sexually receptive phase of the estrous cycle. This sociosexual deficit was also present in mice in which the Oxtr gene was conditionally deleted from the mPFC and in control mice infused with an Oxtr antagonist. Our data demonstrate a gender-, cell type-, and state-specific role for OT/Oxtr signaling in the mPFC and identify a latent cortical circuit element that may modulate other complex social behaviors in response to OT.
C1 [Nakajima, Miho; Goerlich, Andreas; Heintz, Nathaniel] Rockefeller Univ, Howard Hughes Med Inst, Mol Biol Lab, New York, NY 10065 USA.
RP Heintz, N (reprint author), Rockefeller Univ, Howard Hughes Med Inst, Mol Biol Lab, 1230 York Ave, New York, NY 10065 USA.
EM heintz@rockefeller.edu
FU Howard Hughes Medical Institute; NIH PHS [MH090963 P2]
FX This work was supported by the Howard Hughes Medical Institute and NIH
PHS MH090963 P2 (N.H. is an HHMI Investigator). We wish to thank Guojun
Ma and Clint Earnheart for their contributions to the initial
characterization of bacTRAP lines targeting cortical interneuron
populations and the GENSAT Project for the Htr3a Cre mice used in this
study. We would also like to thank Jie Xing, Paola Emhardt, and Beatriz
Lopez for their skilled assistance, Soohyun Lee, Robin Tremblay, Eric
Schmidt, Joseph Doughterty, Jodi Gresack, Hirofumi Nakayama, Awni Mousa
and all other Heintz lab members for their excellent advice, and
Wenxiang Zhang from the Rockefeller University Genomics Resource Center
for help with the TRAP data production.
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NR 69
TC 4
Z9 4
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0092-8674
EI 1097-4172
J9 CELL
JI Cell
PD OCT 9
PY 2014
VL 159
IS 2
BP 295
EP 305
DI 10.1016/j.cell.2014.09.020
PG 11
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AQ8QU
UT WOS:000343095600012
PM 25303526
ER
PT J
AU Colombo, M
Stankevicius, A
Series, P
AF Colombo, Matteo
Stankevicius, Aistis
Series, Peggy
TI Benefits of social vs. non-social feedback on learning and generosity.
Results from the Tipping Game
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE social/non-social feedback; facial expressions; social norms; tipping
behavior; associative learning
ID DECISION-MAKING; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; REWARD;
PUNISHMENT; EMPATHY; AUTISM; HUMANS; ADULTS; WOMEN
AB Although much work has recently been directed at understanding social decision-making, relatively little is known about how different types of feedback impact adaptive changes in social behavior. To address this issue quantitatively, we designed a novel associative learning task called the "Tipping Game," in which participants had to learn a social norm of tipping in restaurants. Participants were found to make more generous decisions from feedback in the form of facial expressions, in comparison to feedback in the form of symbols such as ticks and crosses. Furthermore, more participants displayed learning in the condition where they received social feedback than participants in the non-social condition. Modeling results showed that the pattern of performance displayed by participants receiving social feedback could be explained by a lower sensitivity to economic costs.
C1 [Colombo, Matteo] Tilburg Univ, Tilburg Ctr Log Gen Eth & Philosophy Sci, NL-5000 LE Tilburg, Netherlands.
[Stankevicius, Aistis; Series, Peggy] Univ Edinburgh, Inst Adapt & Neural Computat, Edinburgh, Midlothian, Scotland.
RP Colombo, M (reprint author), Tilburg Univ, Tilburg Ctr Log Gen Eth & Philosophy Sci, POB 90153, NL-5000 LE Tilburg, Netherlands.
EM m.colombo@uvt.nl
FU New Frameworks of Rationality [OPP 15161]; Aistis Stankevicius
[EP/F500385/1, BB/1252925411]; University of Edinburgh School of
informatics
FX We are grateful to Luigi Acerbi, Bruno Averbeck, Jun Lai, Aaron Seitz,
and Vincent Valton fir useful discussions and feedback on previous
drafts of this paper. Matteo Colombo was supported by the Deutsche
Forschungsgemeinschaft (ING) as part of the priority program "New
Frameworks of Rationality" OPP 15161). Aistis Stankevicius was supported
in part by grants EP/F500385/1. and BB/1252925411 for the University of
Edinburgh School of informatics Doctoral Training Centre in
Neuroinformatics and Compu tational Neuroscience, from the UK
Engineering and Physical Sciences Research Council (EPSRC), UK
Biotechnology and Biological Sciences Research Council (BBSRC), and the
UK Medical Research Council (MRC). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of tne manuscript.
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NR 46
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD OCT 9
PY 2014
VL 5
AR 1154
DI 10.3389/fpsyg.2014.01154
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AR0BB
UT WOS:000343226700001
PM 25346715
ER
PT J
AU Arnett, MT
Herman, DH
Mcgee, AW
AF Arnett, Megan T.
Herman, David H.
McGee, Aaron W.
TI Deficits in Tactile Learning in a Mouse Model of Fragile X Syndrome
SO PLOS ONE
LA English
DT Article
ID PRIMARY SOMATOSENSORY CORTEX; MENTAL-RETARDATION SYNDROME; FMR1 KNOCKOUT
MICE; INTRINSIC SIGNAL; FUNCTIONAL ARCHITECTURE; SYNAPTIC PLASTICITY; KO
MICE; NETWORK; AUTISM; HYPEREXCITABILITY
AB The fragile X mental retardation 1 mutant mouse (Fmr1 KO) recapitulates several of the neurologic deficits associated with Fragile X syndrome (FXS). As tactile hypersensitivity is a hallmark of FXS, we examined the sensory representation of individual whiskers in somatosensory barrel cortex of Fmr1 KO and wild-type (WT) mice and compared their performance in a whisker-dependent learning paradigm, the gap cross assay. Fmr1 KO mice exhibited elevated responses to stimulation of individual whiskers as measured by optical imaging of intrinsic signals. In the gap cross task, initial performance of Fmr1 KO mice was indistinguishable from WT controls. However, while WT mice improved significantly with experience at all gap distances, Fmr1 KO mice displayed significant and specific deficits in improvement at longer distances which rely solely on tactile information from whiskers. Thus, Fmr1 KO mice possess altered cortical responses to sensory input that correlates with a deficit in tactile learning.
C1 [Arnett, Megan T.; McGee, Aaron W.] Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles,Saban Res Inst, Dept Pediat,Dev Neurosci Program, Los Angeles, CA 90033 USA.
[Herman, David H.] Univ So Calif, Dept Biol Sci, Neurobiol Sect, Los Angeles, CA 90089 USA.
RP Mcgee, AW (reprint author), Univ So Calif, Keck Sch Med, Childrens Hosp Los Angeles,Saban Res Inst, Dept Pediat,Dev Neurosci Program, Los Angeles, CA 90033 USA.
EM amcgee@usc.edu
FU NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE to AWM; The
Saban Research Institute; Burroughs Wellcome Fund
FX This research was funded in part by grant 1R21N5077288 from the NATIONAL
INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE to AWM. AWM is a
recipient of a Research Development Career Award from The Saban Research
Institute and a Career Award in the Biomedical Sciences from the
Burroughs Wellcome Fund. The funders had no role in the study design,
data collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 47
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD OCT 8
PY 2014
VL 9
IS 10
AR e109116
DI 10.1371/journal.pone.0109116
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT8TE
UT WOS:000345204000039
PM 25296296
ER
PT J
AU Remes, O
Smith, LM
Alvarado-Llano, BE
Colley, L
Levesque, LE
AF Remes, Olivia
Smith, Leah M.
Alvarado-Llano, Beatriz E.
Colley, Lindsey
Levesque, Linda E.
TI Individual- and Regional-level determinants of Human Papillomavirus
(HPV) vaccine refusal: the Ontario Grade 8 HPV vaccine cohort study
SO BMC PUBLIC HEALTH
LA English
DT Article
DE Human papillomavirus; HPV vaccine; Cohort studies; Vaccine coverage;
Vaccine hesitancy; Cohort studies
ID CERVICAL-CANCER; INTELLECTUAL DISABILITY; GENITAL WARTS; UNITED-STATES;
CANADA; PERSPECTIVE; EXPERIENCES; PREVALENCE; ATTITUDES; SEXUALITY
AB Background: Studies on the determinants of human papillomavirus (HPV) vaccine use have generally focused on individual-level characteristics, despite the potentially important influence of regional-level characteristics. Therefore, we undertook a population-based, retrospective cohort study to identify individual-and regional-level determinants of HPV vaccine refusal (non-receipt) in Ontario's (Canada) Grade 8 HPV Immunization Program.
Methods: Ontario's administrative health and immunization databases were used to identify girls eligible for free HPV vaccination in 2007-2011 and to ascertain individual-level characteristics of cohort members (socio-demographics, vaccination history, health care utilization, medical history). The social and material characteristics of the girl's region (health unit) were derived from the 2006 Canadian Census. Generalized estimating equations (binomial distribution, logit link) were used to estimate the population-average effects of individual-and regional-level characteristics on HPV vaccine refusal.
Results: Our cohort consisted of 144,047 girls, 49.3% of whom refused HPV vaccination. Factors associated with refusal included a previous diagnosis of Down's syndrome (OR = 1.37, 95% CI 1.16-1.63) or autism (OR = 1.60, 95% CI 1.34-1.90), few physician visits (OR = 1.45, 95% CI 1.35-1.55), and previous refusal of mandatory (OR = 2.23, 95% CI 2.07-2.40) and optional (OR = 3.96, 95% CI 3.87-4.05) vaccines. Refusal was highest among the lowest and highest income levels. Finally, a previous diagnosis of obesity and living in an area of high deprivation were associated with lower refusal (OR = 0.87, 95% CI 0.83-0.92 and OR = 0.82 95%, CI 0.79-0.86, respectively).
Conclusions: Studies on HPV vaccine determinants should consider regional-level factors. Efforts to increase HPV vaccine acceptance should include vulnerable populations (such as girls of low income) and girls with limited contact with the healthcare system.
C1 [Remes, Olivia; Alvarado-Llano, Beatriz E.; Colley, Lindsey; Levesque, Linda E.] Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada.
[Smith, Leah M.] McGill Univ, Dept Epidemiol Biostat & Occupat Hlth, Montreal, PQ, Canada.
RP Levesque, LE (reprint author), Queens Univ, Dept Publ Hlth Sci, 21 Arch St,Room 313, Kingston, ON, Canada.
EM linda.levesque@queensu.ca
FU Ontario Ministry of Health and Long-Term Care Drug Innovation Fund
(MOHLTC-DIF); Institute for Clinical Evaluative Sciences (ICES) -
Ontario Ministry of Health and Long-Term Care (MOHLTC)
FX This study was funded by a grant from the Ontario Ministry of Health and
Long-Term Care Drug Innovation Fund (MOHLTC-DIF). The sponsor had no
role in the design, conduct, analysis, interpretation, preparation,
review or approval of the manuscript, or the decision to submit the
manuscript for publication. This study was also supported by the
Institute for Clinical Evaluative Sciences (ICES), which is funded by an
annual grant from the Ontario Ministry of Health and Long-Term Care
(MOHLTC). The opinions, results and conclusions reported in this paper
are those of the authors and are independent from the funding sources.
No endorsement by ICES or the Ontario MOHLTC is intended or should be
inferred.
CR [Anonymous], 2005, IMPR HLTH CAR DAT ON
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2458
J9 BMC PUBLIC HEALTH
JI BMC Public Health
PD OCT 8
PY 2014
VL 14
AR 1047
DI 10.1186/1471-2458-14-1047
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AT7QZ
UT WOS:000345133800001
PM 25297055
ER
PT J
AU Ruiz, JB
Bell, RA
AF Ruiz, Jeanette B.
Bell, Robert A.
TI Understanding vaccination resistance: Vaccine search term selection bias
and the valence of retrieved information
SO VACCINE
LA English
DT Article
DE Vaccine resistance; Internet search terms; Vaccine websites; Content
analysis
ID WORLD-WIDE-WEB; HEALTH INFORMATION; IMMUNIZATION; INTERNET; REFUSAL;
CHALLENGES; CONSUMERS; REASONS; PARENTS; RISKS
AB Context: Dubious vaccination-related information on the Internet leads some parents to opt out of vaccinating their children.
Objectives: To determine if negative, neutral and positive search terms retrieve vaccination information that differs in valence and confirms searchers' assumptions about vaccination.
Methods: A content analysis of first-page Google search results was conducted using three negative, three neutral, and three positive search terms for the concepts "vaccine," "vaccination," and "MMR"; 84 of the 90 websites retrieved met inclusion requirements. Two coders independently and reliably coded for the presence or absence of each of 15 myths about vaccination (e.g., "vaccines cause autism"), statements that countered these myths, and recommendations for or against vaccination. Data were analyzed using descriptive statistics.
Results: Across all websites, at least one myth was perpetuated on 16.7% of websites and at least one myth was countered on 64.3% of websites. The mean number of myths perpetuated on websites retrieved with negative, neutral, and positive search terms, respectively, was 1.93, 0.53, and 0.40. The mean number of myths countered on websites retrieved with negative, neutral, and positive search terms, respectively, was 3.0, 3.27, and 2.87. Explicit recommendations regarding vaccination were offered on 22.6% of websites. A recommendation against vaccination was more often made on websites retrieved with negative search terms (37.5% of recommendations) than on websites retrieved with neutral (12.5%) or positive (0%) search terms.
Conclusion: The concerned parent who seeks information about the risks of childhood immunizations will find more websites that perpetuate vaccine myths and recommend against vaccination than the parent who seeks information about the benefits of vaccination. This suggests that search term valence can lead to online information that supports concerned parents' misconceptions about vaccines. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ruiz, Jeanette B.; Bell, Robert A.] Univ Calif Davis, Dept Commun, Davis, CA 95616 USA.
[Bell, Robert A.] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
RP Ruiz, JB (reprint author), Univ Calif Davis, Dept Commun, One Shields Ave, Davis, CA 95616 USA.
EM jbruiz@ucdavis.edu; rabell@ucdavis.edu
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CDC, 2013, NAT IMM SURV NIS CHI
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Zimmerman RK, 2005, J MED INTERNET RES, V2, P7, DOI DOI 10.2196/JMIR.7.2.E17
NR 34
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 0264-410X
EI 1873-2518
J9 VACCINE
JI Vaccine
PD OCT 7
PY 2014
VL 32
IS 44
BP 5776
EP 5780
DI 10.1016/j.vaccine.2014.08.042
PG 5
WC Immunology; Medicine, Research & Experimental
SC Immunology; Research & Experimental Medicine
GA AR5QI
UT WOS:000343638300002
PM 25176640
ER
PT J
AU Mazza, M
Pino, MC
Mariano, M
Tempesta, D
Ferrara, M
De Berardis, D
Masedu, F
Valenti, M
AF Mazza, Monica
Pino, Maria C.
Mariano, Melania
Tempesta, Daniela
Ferrara, Michele
De Berardis, Domenico
Masedu, Francesco
Valenti, Marco
TI Affective and cognitive empathy in adolescents with autism spectrum
disorder
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE adolescents; autistic spectrum disorder (ASD); affective empathy;
cognitive empathy; experience sharing; mentalizing
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; MIND; ADULTS; AMYGDALA;
SCHIZOPHRENIA; DISSOCIATION; NEUROSCIENCE; RECOGNITION; VALIDATION
AB The broad construct of empathy incorporates both cognitive and affective dimensions. Recent evidence suggests that the subjects with autistic spectrum disorder (ASD) show a significant impairment in empathic ability. The aim of this study was to evaluate the cognitive and affective components of empathy in adolescents with ASD compared to controls. Fifteen adolescents with ASD and 15 controls underwent paper and pencil measures and a computerized Multifaceted Empathy Test. All measures were divided into mentalizing and experience sharing abilities. Adolescents with ASD compared to controls showed deficits in all mentalizing measures: they were incapable of interpreting and understanding the mental and emotional states of other people. Instead, in the sharing experience measures, the adolescents with ASD were able to empathize with the emotional experience of other people when they express emotions with positive valence, but were not able to do so when the emotional valence is negative. These results were confirmed by the computerized task. In conclusion, our results suggest that adolescents with ASD show a difficulty in cognitive empathy, whereas the deficit in affective empathy is specific for the negative emotional valence.
C1 [Mazza, Monica; Pino, Maria C.; Mariano, Melania; Tempesta, Daniela; Ferrara, Michele] Univ Aquila, Dept Life Hlth & Environm Sci, I-67100 Laquila, AQ, Italy.
[De Berardis, Domenico] G Mazzini Hosp, Dept Mental Hlth, Psychiat Serv Diag & Treatment, Teramo, Italy.
[Masedu, Francesco; Valenti, Marco] Univ Aquila, Dept Appl Clin Sci & Biotechnol, Sect Clin Epidemiol & Environm Med, I-67100 Laquila, AQ, Italy.
[Valenti, Marco] Abruzzo Reg Hlth Syst, Reference Reg Ctr Autism, Laquila, Italy.
RP Mazza, M (reprint author), Univ Aquila, Dept Life Hlth & Environm Sci, Via Vetoio, I-67100 Laquila, AQ, Italy.
EM monica.mazza@cc.univaq.it
RI Valenti, Marco/F-4818-2015
OI Valenti, Marco/0000-0001-9043-3456
CR Albiero P, 2009, J ADOLESCENCE, V32, P393, DOI 10.1016/j.adolescence.2008.01.001
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 48
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD OCT 7
PY 2014
VL 8
AR 791
DI 10.3389/fnhum.2014.00791
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AQ2KJ
UT WOS:000342614200001
PM 25339889
ER
PT J
AU Balan, S
Iwayama, Y
Maekawa, M
Toyota, T
Ohnishi, T
Toyoshima, M
Shimamoto, C
Esaki, K
Yamada, K
Iwata, Y
Suzuki, K
Ide, M
Ota, M
Fukuchi, S
Tsujii, M
Mori, N
Shinkai, Y
Yoshikawa, T
AF Balan, Shabeesh
Iwayama, Yoshimi
Maekawa, Motoko
Toyota, Tomoko
Ohnishi, Tetsuo
Toyoshima, Manabu
Shimamoto, Chie
Esaki, Kayoko
Yamada, Kazuo
Iwata, Yasuhide
Suzuki, Katsuaki
Ide, Masayuki
Ota, Motonori
Fukuchi, Satoshi
Tsujii, Masatsugu
Mori, Norio
Shinkai, Yoichi
Yoshikawa, Takeo
TI Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2
and WIZ, in Japanese autism subjects
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Rare variant; GLP; G9a; Wiz; Histone methyltransferase; H3K9
ID SUBTELOMERIC DELETION SYNDROME; HISTONE LYSINE METHYLATION; SPECTRUM
DISORDERS; MUTATIONS; G9A; GLP; SCHIZOPHRENIA; EUCHROMATIN; VARIANTS;
GENETICS
AB Background: Histone H3 methylation at lysine 9 (H3K9) is a conserved epigenetic signal, mediating heterochromatin formation by trimethylation, and transcriptional silencing by dimethylation. Defective GLP (Ehmt1) and G9a (Ehmt2) histone lysine methyltransferases, involved in mono and dimethylation of H3K9, confer autistic phenotypes and behavioral abnormalities in animal models. Moreover, EHMT1 loss of function results in Kleefstra syndrome, characterized by severe intellectual disability, developmental delays and psychiatric disorders. We examined the possible role of histone methyltransferases in the etiology of autism spectrum disorders (ASD) and suggest that rare functional variants in these genes that regulate H3K9 methylation may be associated with ASD.
Methods: Since G9a-GLP-Wiz forms a heteromeric methyltransferase complex, all the protein-coding regions and exon/intron boundaries of EHMT1, EHMT2 and WIZ were sequenced in Japanese ASD subjects. The detected variants were prioritized based on novelty and functionality. The expression levels of these genes were tested in blood cells and postmortem brain samples from ASD and control subjects. Expression of EHMT1 and EHMT2 isoforms were determined by digital PCR.
Results: We identified six nonsynonymous variants: three in EHMT1, two in EHMT2 and one in WIZ. Two variants, the EHMT1 ankyrin repeat domain (Lys968Arg) and EHMT2 SET domain (Thr961Ile) variants were present exclusively in cases, but showed no statistically significant association with ASD. The EHMT2 transcript expression was significantly elevated in the peripheral blood cells of ASD when compared with control samples; but not for EHMT1 and WIZ. Gene expression levels of EHMT1, EHMT2 and WIZ in Brodmann area (BA) 9, BA21, BA40 and the dorsal raphe nucleus (DoRN) regions from postmortem brain samples showed no significant changes between ASD and control subjects. Nor did expression levels of EHMT1 and EHMT2 isoforms in the prefrontal cortex differ significantly between ASD and control groups.
Conclusions: We identified two novel rare missense variants in the EHMT1 and EHMT2 genes of ASD patients. We surmise that these variants alone may not be sufficient to exert a significant effect on ASD pathogenesis. The elevated expression of EHMT2 in the peripheral blood cells may support the notion of a restrictive chromatin state in ASD, similar to schizophrenia.
C1 [Balan, Shabeesh; Iwayama, Yoshimi; Maekawa, Motoko; Toyota, Tomoko; Ohnishi, Tetsuo; Toyoshima, Manabu; Shimamoto, Chie; Esaki, Kayoko; Yamada, Kazuo; Yoshikawa, Takeo] RIKEN, Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama 3510198, Japan.
[Iwata, Yasuhide; Suzuki, Katsuaki; Mori, Norio] Hamamatsu Univ, Sch Med, Dept Psychiat & Neurol, Hamamatsu, Shizuoka, Japan.
[Ide, Masayuki] Univ Tsukuba, Dept Psychiat, Div Clin Med, Tsukuba, Ibaraki, Japan.
[Ota, Motonori] Nagoya Univ, Grad Sch Informat Sci, Nagoya, Aichi 4648601, Japan.
[Fukuchi, Satoshi] Maebashi Inst Technol, Fac Engn, Maebashi, Gumma, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Chukyo, Aichi, Japan.
[Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ, Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka, Japan.
[Shinkai, Yoichi] RIKEN, Cellular Memory Lab, Wako, Saitama, Japan.
[Shinkai, Yoichi; Yoshikawa, Takeo] Japan Sci & Technol Agcy, CREST, Kawaguchi, Saitama, Japan.
RP Yoshikawa, T (reprint author), RIKEN, Brain Sci Inst, Lab Mol Psychiat, 2-1 Hirosawa, Wako, Saitama 3510198, Japan.
EM takeo@brain.riken.jp
RI Balan, Shabeesh/K-5753-2014
OI Balan, Shabeesh/0000-0002-1098-1290
FU Japan Society for the Promotion of Science (JSPS), Japan; CREST; Japan
Science and Technology Agency (JST), Japan; RIKEN Brain Science
Institute Funds; Ministry of Education, Culture, Sports, Science and
Technology, Japan.
FX This study was supported in part by Grant-in-Aid for Scientific Research
on Innovative Areas (TY) from the Japan Society for the Promotion of
Science (JSPS), Japan, and by CREST (Core Research for Evolutionary
Science and Technology) (YS and TY) from the Japan Science and
Technology Agency (JST), Japan. In addition, this study was supported by
RIKEN Brain Science Institute Funds (TY). Sections of this study was
conducted as part of the 'Development of biomarker candidates for social
behavior' (TY) and 'Integrated research on neuropsychiatric disorders'
(NM) projects, carried out under the Strategic Research Program for
Brain Sciences by the Ministry of Education, Culture, Sports, Science
and Technology of Japan. A part of this work was also supported by a
grant 'Platform for Drug Discovery, Informatics, and Structural Life
Science' (MO and SF) from the Ministry of Education, Culture, Sports,
Science and Technology, Japan.
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NR 34
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD OCT 6
PY 2014
VL 5
AR 49
DI 10.1186/2040-2392-5-49
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AW7LA
UT WOS:000346444400001
PM 25400900
ER
PT J
AU Whiting, SW
Miller, JM
Hensel, AM
Dixon, MR
Szekely, S
AF Whiting, Seth W.
Miller, Jeffrey M.
Hensel, Allison M.
Dixon, Mark R.
Szekely, Susan
TI Increasing the Accuracy of EpiPen Administration With a Brief Behavioral
Skills Training Package in a School for Autism
SO JOURNAL OF ORGANIZATIONAL BEHAVIOR MANAGEMENT
LA English
DT Article
DE anaphylactic shock; behavioral skills training; feedback; safety; EpiPen
ID SPECTRUM DISORDERS; CHILDREN; STAFF
AB Behavioral staff at a school for children with autism investigated the effects of a brief behavioral skills training procedure to promote the appropriate administration of the EpiPen in an emergency situation by school staff. A 10-item task analysis was created outlining the steps required to use the EpiPen effectively and safely and was validated by the school's registered nurse. Following a pretest in which members of both groups completed a minimal number of steps, the experimental group was trained via instructions, modeling, praise, feedback, and role playing to correctly use the EpiPen whereas the control group received no such training. Posttest scores indicated that the brief intervention was an effective means of teaching appropriate administration of the EpiPen with school staff.
C1 [Whiting, Seth W.; Miller, Jeffrey M.; Hensel, Allison M.; Dixon, Mark R.] So Illinois Univ, Carbondale, IL 62901 USA.
[Szekely, Susan] Illinois Ctr Autism, Fairview Hts, IL USA.
RP Dixon, MR (reprint author), So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, 1025 Lincoln Dr, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR American Red Cross, 2012, ARC SAC SCI REV EP A
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U.S. National Library of Medicine, 2012, AN
NR 11
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0160-8061
EI 1540-8604
J9 J ORGAN BEHAV MANAGE
JI J. Organ. Behav. Manage.
PD OCT 2
PY 2014
VL 34
IS 4
BP 265
EP 278
DI 10.1080/01608061.2014.973632
PG 14
WC Psychology, Applied; Management
SC Psychology; Business & Economics
GA AW1OY
UT WOS:000346060000004
ER
PT J
AU Lui, CM
Moore, DW
Anderson, A
AF Lui, Chi Man
Moore, Dennis W.
Anderson, Angelika
TI Using a Self-Management Intervention to Increase Compliance in Children
With ASD
SO CHILD & FAMILY BEHAVIOR THERAPY
LA English
DT Article
DE compliance; self-monitoring; effective instructional delivery; autism;
self-management
ID SINGLE-SUBJECT RESEARCH; PROBABILITY REQUEST SEQUENCES;
DEVELOPMENTAL-DISABILITIES; ERRORLESS COMPLIANCE; YOUNG-CHILDREN;
RATING-SCALE; AUTISM; STUDENTS; BEHAVIOR; VALIDATION
AB This two-study series examined the effectiveness of self-management in increase compliance with parental requests. Three boys diagnosed with Autism Spectrum Disorder and their parents participated. The intervention involved self-monitoring combined with parent-delivered reinforcement. A multiple baseline design was used. The intervention was successful in increasing rates of compliance and reducing problem behavior in training and generalization settings with each participant. Social validity was high and treatment integrity data indicated that the intervention could be readily implemented by parents. Study 2 also provided evidence of a strong treatment effect for the self-management beyond a small effect for effective instructional delivery.
C1 [Lui, Chi Man; Moore, Dennis W.; Anderson, Angelika] Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
RP Moore, DW (reprint author), Monash Univ, Fac Educ, Melbourne, Vic 3800, Australia.
EM dennis.moore@monash.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 0731-7107
EI 1545-228X
J9 CHILD FAM BEHAV THER
JI Child Fam. Behav. Ther.
PD OCT 2
PY 2014
VL 36
IS 4
BP 259
EP 279
DI 10.1080/07317107.2014.967613
PG 21
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AT6TC
UT WOS:000345070900001
ER
PT J
AU Benson, RL
Joosten, AV
AF Benson, Rhianna L.
Joosten, Annette V.
TI Does video training increase adult and child joint attention and improve
child outcomes? Two individual case studies in children with autism
spectrum disorder
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE autism; children; video training; joint attention
ID YOUNG-CHILDREN; SOCIAL INITIATIONS; INTERVENTION; LANGUAGE;
COMMUNICATION; IMITATION; PLAY; SKILL; BEHAVIORS; FEEDBACK
AB Background Children with autism spectrum disorder experience difficulty initiating (IJA) and responding to joint attention (RJA), which is critical to engagement in social interactions. The adult role in developing joint attention is widely accepted, but measurement of outcomes from adult training is rarely reported.
Method Using a single case study design, this pilot study examined the joint attention of 1 adult and 2 children before and after the adult was trained using video feedback, to recognise joint attention opportunities and strategies to increase children's joint attention.
Results There was a statistically significant increase in adult IJA and a corresponding increase in the children's RJA. Adult RJA increased minimally in response to minimal increase in the children's IJA. Visible increases in adult-child engagement occurred, but the activity chosen, documentation requirements, and one training session also influenced outcomes.
Conclusions This study provides preliminary evidence that video training does increase adult joint attention attempts and improves social interaction and engagement in activities. Other factors affecting adult and child joint attention frequency are also identified.
C1 [Benson, Rhianna L.] Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Joosten, Annette V.] Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
RP Joosten, AV (reprint author), Curtin Univ, Curtin Hlth Innovat Res Inst, Sch Occupat Therapy & Social Work, GPO Box U1987, Perth, WA 6845, Australia.
EM a.joosten@curtin.edu.au
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SAS Institute Inc, 2008, SAS 9 2 FDN MICR WIN
Schertz HH, 2011, TOP EARLY CHILD SPEC, V31, P4, DOI 10.1177/0271121410382460
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Tomita M. R, 2006, RES OCCUPATIONAL THE, P243
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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 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PD OCT 2
PY 2014
VL 39
IS 4
BP 301
EP 314
DI 10.3109/13668250.2014.940861
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS6NW
UT WOS:000344381000001
ER
PT J
AU Webber, LS
Richardson, B
Lambrick, F
AF Webber, Lynne S.
Richardson, Ben
Lambrick, Frank
TI Individual and organisational factors associated with the use of
seclusion in disability services
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE client risk factors; disability; restrictive interventions; autism;
seclusion; organisational risk factors
ID INTELLECTUAL DISABILITIES; CHALLENGING BEHAVIORS; SPECIAL SCHOOLS;
RESTRAINT USE; PEOPLE; CHILDREN; INTERVENTIONS; ADOLESCENTS; POPULATION;
MANAGEMENT
AB Background Seclusion is a restrictive intervention that results in some form of containment and social isolation of a person from others. Little is known about the relationships between individual and organisation factors and the use of seclusion in disability services.
Method The reported use of seclusion in disability services in Victoria, Australia, was examined over a 3-year period, with a focus on the characteristics of those who were secluded (n = 146) and the characteristics of organisations that reported seclusion compared to others who were reported to be restrained but not secluded (n = 2,482).
Results Results from a logistic regression showed that the individual factors of age, the presence of autism and/or a psychiatric disorder put people at risk of being secluded. In terms of organisational factors, receiving accommodation services in institutions or in the community and the location of the organisation were risk factors.
Conclusions The findings are consistent with previous research but add to this literature by showing that certain organisational characteristics are also risk factors for seclusion. Understanding these factors is important in order to help disability support staff find other more ethical and appropriate alternatives to seclusion.
C1 [Webber, Lynne S.; Lambrick, Frank] Dept Human Serv, Off Profess Practice, Melbourne, Vic 3000, Australia.
[Webber, Lynne S.; Richardson, Ben; Lambrick, Frank] Deakin Univ, Sch Psychol, Melbourne, Vic, Australia.
RP Webber, LS (reprint author), Dept Human Serv, Off Profess Practice, 50 Lonsdale St, Melbourne, Vic 3000, Australia.
EM Lynne.Webber@dhs.vic.gov.au
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NR 20
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.
PD OCT 2
PY 2014
VL 39
IS 4
BP 315
EP 322
DI 10.3109/13668250.2014.937326
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS6NW
UT WOS:000344381000002
ER
PT J
AU Pandolfi, V
Magyar, CI
Norris, M
AF Pandolfi, Vincent
Magyar, Caroline I.
Norris, Megan
TI Validity Study of the CBCL 6-18 for the Assessment of Emotional Problems
in Youth With ASD
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE autism spectrum disorder; emotional problems; ASD; CBCL; anxiety;
depression
ID AUTISM SPECTRUM DISORDERS; CHILD-BEHAVIOR CHECKLIST;
PSYCHIATRIC-DISORDERS; COMPARISON SAMPLES; K-SADS; DEPRESSION;
IDENTIFICATION; SCHIZOPHRENIA; ADOLESCENTS; SCHEDULE
AB Youth with autism spectrum disorder (ASD) often present with emotional problems such as anxiety and depression (American Psychiatric Association, 2013). A recent study of the Child Behavior Checklist 6-18 (CBCL; Achenbach & Rescorla, 2001) indicated good sensitivity but relatively low specificity for identifying emotional problems in youth with ASD. The current study examined the extent to which variance in the CBCL's Anxious/Depressed, Withdrawn/Depressed, Internalizing Domain, and Total Problems scales was accounted for by symptoms of emotional problems relative to ASD symptoms. Correlation and multiple regression analyses indicated that these scales measured anxiety and depression but a small statistically significant proportion of variance in Total Problems scores was also accounted for by ASD symptoms. Results contribute to the emerging evidence base for the inclusion of the CBCL in assessment protocols for assessing emotional and behavioral problems in youth with ASD.
C1 [Pandolfi, Vincent] Rochester Inst Technol, Dept Psychol, Rochester, NY 14623 USA.
[Magyar, Caroline I.] Univ Rochester, Med Ctr, Rochester, NY 14642 USA.
[Norris, Megan] Nationwide Childrens Hosp, Westerville, OH USA.
RP Pandolfi, V (reprint author), Rochester Inst Technol, Dept Psychol, 18 Lomb Mem Dr,George Eastman Bldg, Rochester, NY 14623 USA.
EM vxpgla@rit.edu
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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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.
PD OCT 2
PY 2014
VL 7
IS 4
BP 306
EP 322
DI 10.1080/19315864.2014.930547
PG 17
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AS3EB
UT WOS:000344158200002
ER
PT J
AU Hepburn, SL
Stern, JA
Blakeley-Smith, A
Kimel, LK
Reaven, JA
AF Hepburn, Susan L.
Stern, Jessica A.
Blakeley-Smith, Audrey
Kimel, Lila K.
Reaven, Judith A.
TI Complex Psychiatric Comorbidity of Treatment-Seeking Youth With Autism
Spectrum Disorder and Anxiety Symptoms
SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE anxiety; descriptive; autism; psychiatric comorbidity
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIOR THERAPY; ASPERGER-SYNDROME;
CONTROLLED-TRIAL; CHILDREN; ADOLESCENTS; DEPRESSION; INDIVIDUALS;
RELIABILITY; POPULATION
AB This descriptive study examines the complexity of psychiatric comorbidity in treatment-seeking youth with ASD and anxiety symptoms. Forty-two parents of youth with ASD and anxiety (ages 8-14) completed a structured diagnostic interview (Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version). Youth obtained an average of 4 diagnoses. Complex comorbidity did not differ by age, sex, or autism symptoms. Few had participated in mental health treatment. Data from this study support adopting a trans-diagnostic approach to psychiatric intervention for youth with ASD.
C1 [Hepburn, Susan L.; Stern, Jessica A.; Blakeley-Smith, Audrey; Reaven, Judith A.] Univ Colorado Denver, Sch Med, JFK Partners Dept Psychiat, Denver, CO USA.
[Hepburn, Susan L.] Univ Colorado Denver, Sch Med, Colorado Intellectual & Dev Disabil Res Ctr, Denver, CO USA.
[Kimel, Lila K.] Dev FX, Denver, CO USA.
[Reaven, Judith A.] Univ Colorado Denver, Sch Med, JFK Partners Dept Pediat, Denver, CO USA.
RP Hepburn, SL (reprint author), Univ Colorado, JFK Partners Dept Psychiat, Anschutz Med Campus,13171 E 17th Pl,Box C-234, Aurora, CO 80045 USA.
EM susan.hepburn@ucdenver.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1987, DIAGN STAT MAN MENT
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Wechsler D, 2002, WECHSLER ABBREVIATED
Wehner E, 1999, CHILD INFORM S UNPUB
White SW, 2009, CLIN PSYCHOL REV, V29, P216, DOI 10.1016/j.cpr.2009.01.003
Wood JJ, 2010, CLIN PSYCHOL-SCI PR, V17, P281, DOI 10.1111/j.1468-2850.2010.01220.x
NR 45
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.
PD OCT 2
PY 2014
VL 7
IS 4
BP 359
EP 378
DI 10.1080/19315864.2014.932476
PG 20
WC Education, Special; Psychiatry; Rehabilitation
SC Education & Educational Research; Psychiatry; Rehabilitation
GA AS3EB
UT WOS:000344158200005
ER
PT J
AU Johansson, ST
AF Johansson, Shruti Taneja
TI "He Is Intelligent but Different": Stakeholders' Perspectives on
Children on the Autism Spectrum in an Urban Indian School Context
SO INTERNATIONAL JOURNAL OF DISABILITY DEVELOPMENT AND EDUCATION
LA English
DT Article
DE teacher; perspective; India; parent; school; inclusive education;
disability; international; autism
ID INCLUSIVE EDUCATION; DISORDERS; ATTITUDES; TEACHERS; MUMBAI
AB This article explores stakeholders' awareness of autism and their perspectives on children with autism, in an urban Indian school context. Using an interpretive framework, the article draws on interview data from a study conducted in Kolkata. Findings indicated varying but limited awareness of autism among school staff. Teachers instead described the child as "different" from peers. Further, there was variation in stakeholders' view on the challenges faced by the child. In contrast to parents and private specialists, school staff gave no importance to social development and perceived behaviour and personality differences as inherent in the child. Nevertheless, there was a consensus among stakeholders on school responsibility as limited to academic input. Challenging school staff's beliefs about child development and purpose of education, along with re-assessing special educator courses and developing collaboration between parents and school, needs to be addressed to meet the educational needs and ensure successful participation of these children.
C1 Univ Gothenburg, Dept Educ & Special Educ, Gothenburg, Sweden.
RP Johansson, ST (reprint author), Univ Gothenburg, Dept Educ & Special Educ, Gothenburg, Sweden.
EM shruti.johansson@gu.se
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Jordan R., 2005, SPECIAL TEACHING SPE, P110
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KUMAR K, 2005, POLITICAL AGENDA OF
LAL R, 2007, ASIA PACIFIC DISABIL, V18, P120
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Mandell DS, 2005, MENT RETARD DEV D R, V11, P110, DOI 10.1002/mrdd.20061
*MHA, 2011, MIN HOM AFF MHA SER, V1
*MHRD, 2011, BRIEF OV QUAL IMPR S
Miles S, 2010, INT J INCLUSIVE EDUC, V14, P1, DOI 10.1080/13603110802265125
MINOW M, 1990, MAKING ALL THE DIFFE
*MSJE, 2011, RIGHTS PERS DIS BILL
NAMBISSAN GB, 2003, EDUCATIONAL DEPRIVAT
Narayan J, 2005, INT J REHABIL RES, V28, P365, DOI 10.1097/00004356-200512000-00011
NCERT, 2005, NAT CURR FRAM
NEUMAN WL, 2003, SOCIAL RESEARCH METH
Newschaffer CJ, 2007, ANNU REV PUBL HEALTH, V28, P235, DOI 10.1146/annurev.publhealth.28.021406.144007
Pachigar V, 2011, INT J DISABIL DEV ED, V58, P287, DOI 10.1080/1034912X.2011.598664
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POWELL S, 2012, AUTISM AND LEARNING, P1
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*RCI, 2007, STAT DIS INDIA
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NR 36
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1034-912X
EI 1465-346X
J9 INT J DISABIL DEV ED
JI Int. J. Disabil. Dev. Educ.
PD OCT 2
PY 2014
VL 61
IS 4
BP 416
EP 433
DI 10.1080/1034912X.2014.955786
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR5UZ
UT WOS:000343650600008
ER
PT J
AU Flores, MM
Ganz, JB
AF Flores, Margaret M.
Ganz, Jennifer B.
TI Comparison of Direct Instruction and Discrete Trial Teaching on the
Curriculum-based Assessment of Language Performance of Students with
Autism
SO EXCEPTIONALITY
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDER; CHILDREN; TODDLERS; PRESCHOOLERS;
DISABILITIES; PATTERNS
AB There is limited research demonstrating direct instruction (DI) as an effective language intervention for students with autism spectrum disorders (ASD) and developmental disabilities (DD). Existing research has shown that instruction using partial implementation of DI programs resulted in student learning (Ganz, 2007) and instruction using whole lessons resulted in positive instructional effects for students with ASD and DD (Ganz, 2007). However, it is not known whether DI is more effective than other language interventions. The purpose of this study was to compare DI to an established intervention, discrete trial teaching. Thirteen students with ASD or participated in the study and data were collected using curriculum-based assessment. An independent samples t-test indicated that there was a statistically significant difference in student performance for the group who received DI. Results and their implications will be discussed.
C1 [Flores, Margaret M.] Auburn Univ, Auburn, AL 36849 USA.
[Ganz, Jennifer B.] Texas A&M Univ, College Stn, TX 77843 USA.
RP Flores, MM (reprint author), Auburn Univ, Dept Special Educ Rehabil & Counseling, Haley Ctr 2084, Auburn, AL 36849 USA.
EM mmf0010@auburn.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Brown-Chidsey R., 2004, ENCY SCH PSYCHOL, P96
Carnine D. W., 2004, DIRECT INSTRUCTION R
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NR 33
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
PD OCT 2
PY 2014
VL 22
IS 4
BP 191
EP 204
DI 10.1080/09362835.2013.865533
PG 14
WC Education, Special
SC Education & Educational Research
GA AR0XO
UT WOS:000343298500001
ER
PT J
AU Appenzeller, S
Balling, R
Barisic, N
Baulac, S
Caglayan, H
Craiu, D
De Jonghe, P
Depienne, C
Dimova, P
Djemie, T
Gormley, P
Guerrini, R
Helbig, I
Hjalgrim, H
Hoffman-Zacharska, D
Jahn, J
Klein, KM
Koeleman, B
Komarek, V
Krause, R
Kuhlenbaumer, G
Leguern, E
Lehesjoki, AE
Lemke, JR
Lerche, H
Linnankivi, T
Marini, C
May, P
Moller, RS
Muhle, H
Pal, D
Palotie, A
Pendziwiat, M
Robbiano, A
Roelens, F
Rosenow, F
Selmer, K
Serratosa, JM
Sisodiya, S
Stephani, U
Sterbova, K
Striano, P
Suls, A
Talvik, T
von Spiczak, S
Weber, Y
Weckhuysen, S
Zara, F
Abou-Khalil, B
Alldredge, BK
Andermann, E
Andermann, F
Amron, D
Bautista, JF
Berkovic, SF
Bluvstein, J
Boro, A
Cascino, G
Consalvo, D
Crumrine, P
Devinsky, O
Dlugos, D
Epstein, MP
Fiol, M
Fountain, NB
French, J
Friedman, D
Geller, EB
Glauser, T
Glynn, S
Haas, K
Haut, SR
Hayward, J
Helmers, SL
Joshi, S
Kanner, A
Kirsch, HE
Knowlton, RC
Kossoff, EH
Kuperman, R
Kuzniecky, R
Lowenstein, DH
McGuire, SM
Motika, PV
Novotny, EJ
Ottman, R
Paolicchi, JM
Parent, J
Park, K
Poduri, A
Sadleir, L
Scheffer, IE
Shellhaas, RA
Sherr, E
Shih, JJ
Singh, R
Sirven, J
Smith, MC
Sullivan, J
Thio, LL
Venkat, A
Vining, EPG
Von Allmen, GK
Weisenberg, JL
Widdess-Walsh, P
Winawer, MR
Allen, AS
Berkovic, SF
Cassette, P
Delanty, N
Dlugos, D
Eichler, EE
Epstein, MP
Glauser, T
Goldstein, DB
Han, YJ
Heinzen, EL
Johnson, MR
Kuzniecky, R
Lowenstein, DH
Marson, AG
Mefford, HC
Nieh, SE
O'Brien, TJ
Ottman, R
Petrou, S
Petrovski, S
Poduri, A
Ruzzo, EK
Scheffer, IE
Sherr, E
AF Appenzeller, Silke
Balling, Rudi
Barisic, Nina
Baulac, Stephanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Dimova, Petia
Djemie, Tania
Gormley, Padhraig
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jaehn, Johanna
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Kuhlenbaeumer, Gregor
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Moller, Rikke S.
Muhle, Hiltrud
Pal, Deb
Palotie, Aarno
Pendziwiat, Manuela
Robbiano, Angela
Roelens, Filip
Rosenow, Felix
Selmer, Kaja
Serratosa, Jose M.
Sisodiya, Sanjay
Stephani, Ulrich
Sterbova, Katalin
Striano, Pasquale
Suls, Arvid
Talvik, Tiina
von Spiczak, Sarah
Weber, Yvonne
Weckhuysen, Sarah
Zara, Federico
Abou-Khalil, Bassel
Alldredge, Brian K.
Andermann, Eva
Andermann, Frederick
Amron, Dina
Bautista, Jocelyn F.
Berkovic, Samuel F.
Bluvstein, Judith
Boro, Alex
Cascino, Gregory
Consalvo, Damian
Crumrine, Patricia
Devinsky, Orrin
Dlugos, Dennis
Epstein, Michael P.
Fiol, Miguel
Fountain, Nathan B.
French, Jacqueline
Friedman, Daniel
Geller, Eric B.
Glauser, Tracy
Glynn, Simon
Haas, Kevin
Haut, Sheryl R.
Hayward, Jean
Helmers, Sandra L.
Joshi, Sucheta
Kanner, Andres
Kirsch, Heidi E.
Knowlton, Robert C.
Kossoff, Eric H.
Kuperman, Rachel
Kuzniecky, Ruben
Lowenstein, Daniel H.
McGuire, Shannon M.
Motika, Paul V.
Novotny, Edward J.
Ottman, Ruth
Paolicchi, Juliann M.
Parent, Jack
Park, Kristen
Poduri, Annapurna
Sadleir, Lynette
Scheffer, Ingrid E.
Shellhaas, Renee A.
Sherr, Elliott
Shih, Jerry J.
Singh, Rani
Sirven, Joseph
Smith, Michael C.
Sullivan, Joe
Thio, Liu Lin
Venkat, Anu
Vining, Eileen P. G.
Von Allmen, Gretchen K.
Weisenberg, Judith L.
Widdess-Walsh, Peter
Winawer, Melodie R.
Allen, Andrew S.
Berkovic, Samuel F.
Cassette, Patrick
Delanty, Norman
Dlugos, Dennis
Eichler, Evan E.
Epstein, Michael P.
Glauser, Tracy
Goldstein, David B.
Han, Yujun
Heinzen, Erin L.
Johnson, Michael R.
Kuzniecky, Ruben
Lowenstein, Daniel H.
Marson, Anthony G.
Mefford, Heather C.
Nieh, Sahar Esmaeeli
O'Brien, Terence J.
Ottman, Ruth
Petrou, Stephen
Petrovski, Slave
Poduri, Annapurna
Ruzzo, Elizabeth K.
Scheffer, Ingrid E.
Sherr, Elliott
CA EuroEPINOMICS-RES Consortium
EuroEPINOMICS-RES Consortium
Epilepsy Phenome Genome Project
Epi4K Consortium
TI De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause
Epileptic Encephalopathies
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID INTELLECTUAL DISABILITY; SPECTRUM DISORDERS; GRIN2A MUTATIONS;
SCHIZOPHRENIA; EPILEPSIES; AUTISM; ENDOCYTOSIS; DYNAMIN-1; PATTERNS;
APHASIA
AB Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium. In this expanded cohort, we find 429 de nova mutations, including de novo mutations in DNM1 in five individuals and de nova mutations in GABBR2, FASN, and RYR3 in two individuals each. Unlike previous studies, this cohort is sufficiently large to show a significant excess of de nova mutations in epileptic encephalopathy probands compared to the general population using a likelihood analysis (p = 8.2 x 10(-4)), supporting a prominent role for de novo mutations in epileptic encephalopathies. We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. Strikingly, 75% of mutations in these probands are predicted to disrupt a protein involved in regulating synaptic transmission, and there is a significant enrichment of de nova mutations in genes in this pathway in the entire cohort as well. These findings emphasize an important role for synaptic dysregulation in epileptic encephalopathies, above and beyond that caused by ion channel dysfunction.
RI Scheffer, Ingrid/G-1668-2013; Ottman, Ruth/O-2371-2013; Stephani,
Ulrich/D-1004-2010
OI Scheffer, Ingrid/0000-0002-2311-2174;
FU National Institute of Neurological Disorders and Stroke (The Epilepsy
Phenome/Genome Project) [NS053998, Epi4K NS077364, NS077274, NS077303,
NS077276]; Andrew's Foundation; Finding a Cure for Epilepsy and
Seizures; Richard Thalheimer Philanthropic Fund; Eurocores program
EuroEPINOMICS-RES of the European Science Foundation
FX This work was supported by grants from the National Institute of
Neurological Disorders and Stroke (The Epilepsy Phenome/Genome Project
NS053998; Epi4K NS077364, NS077274, NS077303, and NS077276), The
Andrew's Foundation, Finding a Cure for Epilepsy and Seizures, the
Richard Thalheimer Philanthropic Fund, and the Eurocores program
EuroEPINOMICS-RES of the European Science Foundation. Additional funding
sources are summarized in the Supplemental Acknowledgments. The sponsors
of the study had no role in study design, data collection, data
analysis, data interpretation, or writing of the report.
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NR 33
TC 7
Z9 7
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD OCT 2
PY 2014
VL 95
IS 4
BP 360
EP 370
DI 10.1016/j.ajhg.2014.08.013
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ2XW
UT WOS:000342654300002
ER
PT J
AU Brand, H
Pillalamarri, V
Collins, RL
Eggert, S
O'Dushlaine, C
Braaten, EB
Stone, MR
Chambert, K
Doty, ND
Hanscom, C
Rosenfeld, JA
Ditmars, H
Blais, J
Mills, R
Lee, C
Gusella, JF
McCarroll, S
Smoller, JW
Talkowski, ME
Doyle, AE
AF Brand, Harrison
Pillalamarri, Vamsee
Collins, Ryan L.
Eggert, Stacey
O'Dushlaine, Colm
Braaten, Ellen B.
Stone, Matthew R.
Chambert, Kimberly
Doty, Nathan D.
Hanscom, Carrie
Rosenfeld, Jill A.
Ditmars, Hillary
Blais, Jessica
Mills, Ryan
Lee, Charles
Gusella, James F.
McCarroll, Steven
Smoller, Jordan W.
Talkowski, Michael E.
Doyle, Alysa E.
TI Cryptic and Complex Chromosomal Aberrations in Early-Onset
Neuropsychiatric Disorders
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; STRUCTURAL VARIATION;
BIPOLAR-DISORDER; HUMAN GENOME; SCHIZOPHRENIA; VARIANTS; DELETION; RISK;
REARRANGEMENTS
AB Structural variation (SV) is a significant component of the genetic etiology of both neurodevelopmental and psychiatric disorders; however, routine guidelines for clinical genetic screening have been established only in the former category. Genome-wide chromosomal microarray (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal abnormalities (BCAs) still require karyotyping for clinical detection. Moreover, submicroscopic BCAs and subarray threshold CNVs are intractable, or cryptic, to both CMA and karyotyping. Here, we performed whole-genome sequencing using large-insert jumping libraries to delineate both cytogenetically visible and cryptic SVs in a single test among 30 clinically referred youth representing a range of severe neuropsychiatric conditions. We detected 96 SVs per person on average that passed filtering criteria above our highest-confidence resolution (6,305 bp) and an additional 111 SVs per genome below this resolution. These SVs rearranged 3.8 Mb of genomic sequence and resulted in 42 putative loss-of-function (LoF) or gain-of-function mutations per person. We estimate that 80% of the LoF variants were cryptic to clinical CMA. We found myriad complex and cryptic rearrangements, including a "paired" duplication (360 kb, 169 kb) that flanks a 5.25 Mb inversion that appears in 7 additional cases from clinical CNV data among 47,562 individuals. Following convergent genomic profiling of these independent clinical CNV data, we interpreted three SVs to be of potential clinical significance. These data indicate that sequence-based delineation of the full SV mutational spectrum warrants exploration in youth referred for neuropsychiatric evaluation and clinical diagnostic SV screening more broadly.
C1 [Brand, Harrison; Pillalamarri, Vamsee; Collins, Ryan L.; Eggert, Stacey; Stone, Matthew R.; Hanscom, Carrie; Ditmars, Hillary; Blais, Jessica; Gusella, James F.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Brand, Harrison; Eggert, Stacey; Gusella, James F.; Talkowski, Michael E.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA.
[Brand, Harrison; Eggert, Stacey; Braaten, Ellen B.; Doty, Nathan D.; Gusella, James F.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Eggert, Stacey; Gusella, James F.; McCarroll, Steven] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[O'Dushlaine, Colm; Chambert, Kimberly; Gusella, James F.; McCarroll, Steven; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA 02141 USA.
[O'Dushlaine, Colm; Chambert, Kimberly; Gusella, James F.; McCarroll, Steven; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02141 USA.
[Braaten, Ellen B.; Doty, Nathan D.; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Rosenfeld, Jill A.] PerkinElmer Inc, Signature Genom Labs, Spokane, WA 99207 USA.
[Mills, Ryan] Univ Michigan, Med Ctr, Dept Computat Med, Ann Arbor, MI 48109 USA.
[Mills, Ryan] Univ Michigan, Med Ctr, Dept Bioinformat & Human Genet, Ann Arbor, MI 48109 USA.
[Lee, Charles] Jackson Lab Genom Med, Farmington, CT 06030 USA.
RP Talkowski, ME (reprint author), Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
EM talkowski@chgr.mgh.harvard.edu; doylea@helix.mgh.harvard.edu
FU National Institute of Mental Health [MH095867]; Simons Foundation for
Autism Research; Nancy Lurie Marks Family Foundation; March of Dimes;
Charles Hood Foundation; Brain and Behavioral Research Foundation
(NARSAD); Stanley Center for Psychiatric Research; David Judah
Foundation; NIMH [K24MH094614]
FX The genomic studies were supported by funds from the National Institute
of Mental Health (MH095867), the Simons Foundation for Autism Research,
the Nancy Lurie Marks Family Foundation, the March of Dimes, the Charles
Hood Foundation, and the Brain and Behavioral Research Foundation
(NARSAD) to M.E.T. The LOGIC study and affiliated personnel were
supported by funds from the Stanley Center for Psychiatric Research and
the David Judah Foundation to A.E.D. J.W.M. is supported in part by NIMH
grant K24MH094614.
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NR 49
TC 1
Z9 1
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0002-9297
EI 1537-6605
J9 AM J HUM GENET
JI Am. J. Hum. Genet.
PD OCT 2
PY 2014
VL 95
IS 4
BP 454
EP 461
DI 10.1016/j.ajhg.2014.09.005
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ2XW
UT WOS:000342654300010
PM 25279985
ER
PT J
AU Ishitobi, M
Kawatani, M
Asano, M
Kosaka, H
Goto, T
Hiratani, M
Wada, Y
AF Ishitobi, Makoto
Kawatani, Masao
Asano, Mizuki
Kosaka, Hirotaka
Goto, Takashi
Hiratani, Michio
Wada, Yuji
TI Quetiapine responsive catatonia in an autistic patient with comorbid
bipolar disorder and idiopathic basal ganglia calcification
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Bipolar disorder; Quetiapine; Autism; Catatonia; Dystonia; Basal ganglia
calcification
AB Background: Bipolar disorder (BD) has been linked with the manifestation of catatonia in subjects with autism spectrum disorders (ASD). Idiopathic basal ganglia calcification (IBGC) is characterized by movement disorders and various neuropsychiatric disturbances including mood disorder. Case: We present a patient with ASD and IBGC who developed catatonia presenting with prominent dystonic feature caused by comorbid BD, which was treated effectively with quetiapine. Conclusion: In addition to considering the possibility of neurodegenerative disease, careful psychiatric interventions are important to avoid overlooking treatable catatonia associated with BD in cases of ASD presenting with both prominent dystonic features and apparent fluctuation of the mood state. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Ishitobi, Makoto] Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Natl Inst Mental Hlth, Kodaira, Tokyo 1878553, Japan.
[Ishitobi, Makoto; Asano, Mizuki; Goto, Takashi; Wada, Yuji] Univ Fukui, Dept Neuropsychiat, Fukui, Japan.
[Kosaka, Hirotaka] Univ Fukui, Res Ctr Child Mental Dev, Fukui, Japan.
[Hiratani, Michio] Hiratani Child Dev Clin, Fukui, Japan.
[Kawatani, Masao] Univ Fukui, Dept Pediat, Fukui, Japan.
RP Ishitobi, M (reprint author), Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Natl Inst Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan.
EM mak1977019@yahoo.co.jp; kawatani@u-fukui.ac.jp; morio@u-fukui.ac.jp;
hirotaka@u-fukui.ac.jp; gotot@u-fukui.ac.jp; m-hiratani@hiratani-c.jp;
waday@u-fukui.ac.jp
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NR 4
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 OCT
PY 2014
VL 36
IS 9
BP 823
EP 825
DI 10.1016/j.braindev.2013.12.005
PG 3
WC Clinical Neurology
SC Neurosciences & Neurology
GA CB2AQ
UT WOS:000349429500012
PM 24434185
ER
PT J
AU Furnari, MA
Saw, CLL
Kong, AN
Wagner, GC
AF Furnari, Melody A.
Saw, Constance Lay-Lay
Kong, Ah-Ng
Wagner, George C.
TI Altered behavioral development in Nrf2 knockout mice following early
postnatal exposure to valproic acid
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Nrf2; Knockout mice; Valproic acid; Developmental behavior; Rotorod;
Water maze
ID OXIDATIVE STRESS; GENE-EXPRESSION; TRANSCRIPTION FACTOR;
HIPPOCAMPAL-LESIONS; SODIUM VALPROATE; AUTISM; RATS; MECHANISM;
VIGABATRIN; METABOLISM
AB Early exposure to valproic acid results in autism-like neural and behavioral deficits in humans and other animals through oxidative stress-induced neural damage. In the present study, valproic acid was administered to genetically altered mice lacking the Nrf2 (nuclear factor-erythroid 2 related factor 2) gene on postnatal day 14 (P14). Nrf2 is a transcription factor that induces genes that protect against oxidative stress. It was found that valproic acid-treated Nrf2 knockout mice were less active in open field activity chambers, less successful on the rotorod, and had deficits in learning and memory in the Morris water maze compared to the valproic acid-treated wild type mice. Given these results, it appears that Nrf2 knockout mice were more sensitive to the neural damage caused by valproic acid administered during early development. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Furnari, Melody A.] Rutgers State Univ, Joint Program Toxicol, Piscataway, NJ 08854 USA.
[Saw, Constance Lay-Lay; Kong, Ah-Ng] Rutgers State Univ, Dept Pharmaceut, Piscataway, NJ 08854 USA.
[Wagner, George C.] Rutgers State Univ, Dept Psychol, Piscataway, NJ 08854 USA.
RP Wagner, GC (reprint author), Busch Campus,152 Frelinghuysen Rd, New Brunswick, NJ 08854 USA.
EM gcwagner@rci.rutgers.edu
FU Rutgers University Busch Biomedical Research Grant
FX We would like to thank the undergraduate research assistants, SooYun
Chung, Joseph Dzierzawiec, Baria Hafeez, HyunChung Kim, Shrishti Mamidi,
Rachel Omansky, and Nadia Schuman for assistance in running the
behavioral experiments. This work was supported by a Rutgers University
Busch Biomedical Research Grant (GCW).
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NR 49
TC 0
Z9 0
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 OCT
PY 2014
VL 109
BP 132
EP 142
DI 10.1016/j.brainresbull.2014.10.006
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AY5EW
UT WOS:000347596800016
PM 25454122
ER
PT J
AU Xu, DX
Richards, JA
Gilkerson, J
AF Xu, Dongxin
Richards, Jeffrey A.
Gilkerson, Jill
TI Automated Analysis of Child Phonetic Production Using Naturalistic
Recordings
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE vocal development; phonetic development; typical development; language
delay; autism; speech recognition; adult acoustic phonetic model
ID EARLY LANGUAGE-ACQUISITION; PHONOLOGICAL DEVELOPMENT; VOCALIZATIONS;
INVENTORIES; INFANT; AUTISM; COMPLEXITY; 2-YEAR-OLD; DISORDERS; TODDLERS
AB Purpose: Conventional resource-intensive methods for child phonetic development studies are often impractical for sampling and analyzing child vocalizations in sufficient quantity. The purpose of this study was to provide new information on early language development by an automated analysis of child phonetic production using naturalistic recordings. The new approach was evaluated relative to conventional manual transcription methods. Its effectiveness was demonstrated by a case study with 106 children with typical development (TD) ages 8-48 months, 71 children with autism spectrum disorder (ASD) ages 16-48 months, and 49 children with language delay (LD) not related to ASD ages 10-44 months.
Method: A small digital recorder in the chest pocket of clothing captured full-day natural child vocalizations, which were automatically identified into consonant, vowel, nonspeech, and silence, producing the average count per utterance (ACPU) for consonant and vowel.
Results: Clear child utterances were identified with above 72% accuracy. Correlations between machine-estimated and human-transcribed ACPUs were above 0.82. Children with TD produced significantly more consonants and vowels per utterance than did other children. Children with LD produced significantly more consonants but not vowels than did children with ASD.
Conclusion: The authors provide new information on typical and atypical language development in children with TD, ASD, and LD using an automated computational approach.
C1 [Xu, Dongxin; Richards, Jeffrey A.; Gilkerson, Jill] LENA Res Fdn, Boulder, CO 80301 USA.
[Xu, Dongxin; Gilkerson, Jill] Univ Colorado, Boulder, CO 80309 USA.
RP Xu, DX (reprint author), LENA Res Fdn, Boulder, CO 80301 USA.
EM dongxinxu@lenafoundation.org
FU LENA Research Foundation
FX The study and related research and development were funded by the LENA
Research Foundation. All three authors, Dongxin Xu, Jeffrey A. Richards,
and Jill Gilkerson, are employees of the LENA Research Foundation.
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NR 43
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1638
EP 1650
DI 10.1044/2014_JSLHR-S-13-0037
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500005
PM 24824489
ER
PT J
AU Klusek, J
Martin, GE
Losh, M
AF Klusek, Jessica
Martin, Gary E.
Losh, Molly
TI A Comparison of Pragmatic Language in Boys With Autism and Fragile X
Syndrome
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE pragmatic language; social communication; autism; fragile X syndrome;
discourse; endophenotype
ID PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC-OBSERVATION-SCHEDULE;
HIGH-FUNCTIONING AUTISM; DOWN-SYNDROME; SPECTRUM DISORDERS;
ASPERGER-SYNDROME; CONVERSATIONAL CHARACTERISTICS; BEHAVIORAL-PHENOTYPE;
EXPRESSIVE LANGUAGE; MENTAL-RETARDATION
AB Purpose: Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether pragmatic language profiles in these conditions overlap.
Method: The authors used seminaturalistic and standardized assessment methods to characterize pragmatic language abilities of 29 school-aged boys with idiopathic ASD, 38 with FXS and comorbid ASD, 16 with FXS without ASD, 20 with Down syndrome, and 20 with typical development.
Results: Similar severity of pragmatic language deficits was observed in both of the groups with ASD (idiopathic and fragile X-associated). ASD comorbidity had a detrimental effect on the pragmatic language skills of the boys with FXS. Some different patterns emerged across the two pragmatic assessment tools, with more robust group differences observed in pragmatics assessed in a seminaturalistic conversational context.
Conclusion: These findings have implications for pragmatic language assessment and intervention, as well as for understanding the potential role of the fragile X gene, Fragile X Mental Retardation-1, in the pragmatic language phenotype of ASD.
C1 [Klusek, Jessica; Martin, Gary E.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Losh, Molly] Northwestern Univ, Evanston, IL 60201 USA.
RP Losh, M (reprint author), Northwestern Univ, Evanston, IL 60201 USA.
EM m-losh@northwestern.edu
FU James J. Gallagher Dissertation Award of Frank Porter Graham Child
Development Institute; National Institute of Child Health and Human
Development [R01HD0388190-62A, R01HD038819-09S1, R01HD044935-06A];
National Institute on Deafness and Other Communication Disorders
[1R01DC010191-01A1, R03DC010880]; National Institute of Mental Health
[R01MH091131-01A1]; National Fragile X Foundation; Ireland Family
Foundation; Research Participant Registry Core of the Carolina Institute
for Developmental Disabilities Grant [P30HD03110]; original National
Institute of Child Health and Human Development
FX This article was completed as part of the first author's doctoral
dissertation, which was supported in part by the James J. Gallagher
Dissertation Award of Frank Porter Graham Child Development Institute.
This work was funded by the National Institute of Child Health and Human
Development Grants R01HD0388190-62A, R01HD038819-09S1, and
R01HD044935-06A; the National Institute on Deafness and Other
Communication Disorders Grants 1R01DC010191-01A1 and R03DC010880; the
National Institute of Mental Health Grant R01MH091131-01A1; the National
Fragile X Foundation; the Ireland Family Foundation; and the Research
Participant Registry Core of the Carolina Institute for Developmental
Disabilities Grant P30HD03110. We would like to thank Linda Watson,
Heather Cody Hazlett, and Jane Roberts for their comments on an earlier
version of this article, Abigail Hogan-Brown for her assistance with the
pragmatic language coding, Christine Rothermel for her help with the
tables, and John Sideris for his guidance on the statistical analyses.
We also thank Rebecca Landa for permitting our use of the Pragmatic
Rating Scale-School Age in this project and for providing training and
guidance on its implementation. We gratefully acknowledge the late
Joanne Roberts, who was awarded the original National Institute of Child
Health and Human Development grants that supported the initial phases of
this research, and the children and families who participated.
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NR 115
TC 2
Z9 2
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1692
EP 1707
DI 10.1044/2014_JSLHR-L-13-0064
PG 16
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500009
PM 24686468
ER
PT J
AU Woynaroski, T
Yoder, PJ
Fey, ME
Warren, SF
AF Woynaroski, Tiffany
Yoder, Paul J.
Fey, Marc E.
Warren, Steven F.
TI A Transactional Model of Spoken Vocabulary Variation in Toddlers With
Intellectual Disabilities
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE milieu communication teaching; treatment intensity; intellectual
disabilities; language; vocabulary; intervention
ID AUTISM SPECTRUM DISORDER; INTENTIONAL COMMUNICATION; YOUNG-CHILDREN;
PRELINGUISTIC COMMUNICATION; DEVELOPMENTAL-DISABILITIES; DOWN-SYNDROME;
EXPRESSIVE VOCABULARY; LANGUAGE-DEVELOPMENT; LEXICAL DEVELOPMENT;
INFANTS
AB Purpose: The authors examined (a) whether dose frequency of milieu communication teaching (MCT) affects children's canonical syllabic communication and (b) whether the relation between early canonical syllabic communication and later spoken vocabulary is mediated by parental linguistic mapping in children with intellectual disabilities (ID).
Method: The authors drew on extant data from a recent differential treatment intensity study in which 63 toddlers with ID were randomly assigned to receive either five 1-hr MCT sessions per week (i.e., daily treatment) or one 1-hr MCT session per week (i.e., weekly treatment) for 9 months. Children's early canonical syllabic communication was measured after 3 months of treatment, and later spoken vocabulary was measured at posttreatment. Midpoint parental linguistic mapping was measured after 6 months of treatment.
Results: A moderate-sized effect in favor of daily treatment was observed on canonical syllabic communication. The significant relation between canonical syllabic communication and spoken vocabulary was partially mediated by linguistic mapping.
Conclusions: These results suggest that canonical syllabic communication may elicit parental linguistic mapping, which may in turn support spoken vocabulary development in children with ID. More frequent early intervention boosted canonical syllabic communication, which may jump-start this transactional language-learning mechanism. Implications for theory, research, and practice are discussed.
C1 [Woynaroski, Tiffany; Yoder, Paul J.] Vanderbilt Univ, Nashville, TN 37235 USA.
[Fey, Marc E.] Univ Kansas, Med Ctr, Kansas City, KS USA.
[Warren, Steven F.] Univ Kansas, Lawrence, KS 66045 USA.
RP Woynaroski, T (reprint author), Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA.
EM tiffany.g.woynaroski@vanderbilt.edu
FU National Institute on Deafness and Other Communication Disorders Grant
[R01DC007660]; National Institute on Child Health and Human Development
Grant [P30 NICHD HD 002528]; U.S. Department of Education Grant
[H325D080075]
FX This research was supported in part by National Institute on Deafness
and Other Communication Disorders Grant R01DC007660, National Institute
on Child Health and Human Development Grant P30 NICHD HD 002528, and
U.S. Department of Education Grant H325D080075. We acknowledge the
significant contributions of Jayne Brandel, Catherine Bush, Debby
Daniels, Elizabeth Gardner, Nicole Thompson, and Peggy Waggoner.
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NR 55
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1754
EP 1763
DI 10.1044/2014_JSLHR-L-13-0252
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500014
PM 24802090
ER
PT J
AU Singh, L
Harrow, MS
AF Singh, Leher
Harrow, MariLouise S.
TI Influences of Semantic and Prosodic Cues on Word Repetition and
Categorization in Autism
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; prosody; development
ID HIGH-FUNCTIONING AUTISM; COMPLEX EMOTION RECOGNITION; SPECTRUM
DISORDERS; ASPERGERS-SYNDROME; SPEECH-PERCEPTION; LEXICAL ACCESS;
VISUAL-SEARCH; SPONTANEOUS ATTENTION; DIAGNOSTIC-CRITERIA; FACIAL
EXPRESSION
AB Purpose: To investigate sensitivity to prosodic and semantic cues to emotion in individuals with high-functioning autism (HFA).
Method: Emotional prosody and semantics were independently manipulated to assess the relative influence of prosody versus semantics on speech processing. A sample of 10-year-old typically developing children (n = 10) and children with HFA (n = 10) were asked to repeat words that were either emotionally congruent or incongruent in form and content (Experiment 1A). In a second task (Experiment 1B), the same participants were asked to classify stimuli on the basis of emotional prosody. A final experiment (Experiment 2) focused on sensitivity to congruence in a non-emotional source of variation: talker gender.
Results: The results revealed a selective impairment in spontaneous integration of prosodic and semantic cues to emotion in HFA; however, the same participants were able to categorize emotions on the basis of prosody under reduced task demands. Individuals with HFA were highly sensitive to another surface characteristic in speech: talker gender.
Conclusions: The study reveals impairment in the spontaneous integration of prosodic and semantic cues to emotion in HFA; however, insensitivity to surface detail, such as prosody, in HFA appears to be highly task dependent and selective to the domain of emotion.
C1 [Singh, Leher] Natl Univ Singapore, Singapore 117548, Singapore.
[Harrow, MariLouise S.] Boston Univ, Boston, MA 02215 USA.
RP Singh, L (reprint author), Natl Univ Singapore, Singapore 117548, Singapore.
EM psyls@nus.edu.sg
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NR 103
TC 1
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1764
EP 1778
DI 10.1044/2014_JSLHR-L-13-0123
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500015
PM 24801807
ER
PT J
AU Schlosser, RW
Koul, R
Shane, H
Sorce, J
Brock, K
Harmon, A
Moerlein, D
Hearn, E
AF Schlosser, Ralf W.
Koul, Rajinder
Shane, Howard
Sorce, James
Brock, Kristofer
Harmon, Ashley
Moerlein, Dorothy
Hearn, Emilia
TI Effects of Animation on Naming and Identification Across Two Graphic
Symbol Sets Representing Verbs and Prepositions
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE animation; augmentative and alternative; children; communication; forced
choice; graphic symbols; identification; naming
ID INTELLECTUAL DISABILITIES; TRANSPARENCY; INDIVIDUALS; PERFORMANCE;
PICTURES; CHILDREN; SYSTEMS; ADULTS
AB Purpose: The effects of animation on naming and identification of graphic symbols for verbs and prepositions were studied in 2 graphic symbol sets in preschoolers.
Method: Using a 2 x 2 x 2 x 3 completely randomized block design, preschoolers across three age groups were randomly assigned to combinations of symbol set (Autism Language Program [ALP] Animated Graphics or Picture Communication Symbols [PCS]), symbol format (animated or static), and word class (verbs or prepositions). Children were asked to name symbols and to identify a target symbol from an array given the spoken label.
Results: Animated symbols were more readily named than static symbols, although this was more pronounced for verbs than for prepositions. ALP symbols were named more accurately than PCS in particular with prepositions. Animation did not facilitate identification. ALP symbols for prepositions were identified better than PCS, but there was no difference for verbs. Finally, older children guessed and identified symbols more effectively than younger children.
Conclusions: Animation improves the naming of graphic symbols for verbs. For prepositions, ALP symbols are named more accurately and are more readily identifiable than PCS. Naming and identifying symbols are learned skills that develop over time. Limitations and future research directions are discussed.
C1 [Schlosser, Ralf W.; Harmon, Ashley; Moerlein, Dorothy; Hearn, Emilia] Northeastern Univ, Boston, MA 02115 USA.
[Schlosser, Ralf W.; Shane, Howard; Sorce, James] Boston Childrens Hosp, Boston, MA USA.
[Koul, Rajinder; Brock, Kristofer] Texas Tech Univ, Hlth Sci Ctr, Lubbock, TX 79430 USA.
RP Schlosser, RW (reprint author), Northeastern Univ, Boston, MA 02115 USA.
EM R.Schlosser@neu.edu
FU National Institute on Disability and Rehabilitation Research (NIDRR),
U.S. Department of Education [H133G100187]; NIDRR
FX This project was funded by the National Institute on Disability and
Rehabilitation Research (NIDRR), U.S. Department of Education
(H133G100187), to Ralf W. Schlosser with a subcontract to Rajinder Koul.
The authors, however, bear sole responsibility for the content, and
funding by NIDRR does not imply that the opinions expressed in this
report are those of the agency. We wish to thank the following day care
centers for allowing us to collect data at their sites. Greater Boston,
MA: Center for Development of Children of Dover, Children's Corner of
Norwood, Cornerstone Campus Preschool of Quincy, Dover Nursery School of
Dover, Russel J. Call Children's Center (Boston), Wayland Goddard School
of Wayland, Wellesley Community Childen's Center (Wellesley); Lubbock,
TX: Texas Tech University Child Development Research Center, Westminster
Presbyterian Preschool/Daycare, All Saints Episcopal School.
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NR 38
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1779
EP 1791
DI 10.1044/2014_JSLHR-L-13-0193
PG 13
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500016
PM 24811580
ER
PT J
AU Roberts, MY
Kaiser, AP
Wolfe, CE
Bryant, JD
Spidalieri, AM
AF Roberts, Megan Y.
Kaiser, Ann P.
Wolfe, Cathy E.
Bryant, Julie D.
Spidalieri, Alexandria M.
TI Effects of the Teach-Model-Coach-Review Instructional Approach on
Caregiver Use of Language Support Strategies and Children's Expressive
Language Skills
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE early intervention; language disorders; effectiveness
ID INTERVENTION; AUTISM; PARENTS; STIMULATION; DELAY; RISK
AB Purpose: In this study, the authors examined the effects of the Teach-Model-Coach-Review instructional approach on caregivers' use of four enhanced milieu teaching (EMT) language support strategies and on their children's use of expressive language.
Method: Four caregiver-child dyads participated in a singlesubject, multiple-baseline study. Children were between 24 and 42 months of age and had language impairment. Interventionists used the Teach-Model-Coach-Review instructional approach to teach caregivers to use matched turns, expansions, time delays, and milieu teaching prompts during 24 individualized clinic sessions. Caregiver use of each EMT language support strategy and child use of communication targets were the dependent variables.
Results: The caregivers demonstrated increases in their use of each EMT language support strategy after instruction. Generalization and maintenance of strategy use to the home was limited, indicating that teaching across routines is necessary to achieve maximal outcomes. All children demonstrated gains in their use of communication targets and in their performance on norm-referenced measures of language.
Conclusion: The results indicate that the Teach-Model-Coach-Review instructional approach resulted in increased use of EMT language support strategies by caregivers. Caregiver use of these strategies was associated with positive changes in child language skills.
C1 [Roberts, Megan Y.; Kaiser, Ann P.; Wolfe, Cathy E.; Bryant, Julie D.; Spidalieri, Alexandria M.] Vanderbilt Univ, Nashville, TN 37235 USA.
RP Roberts, MY (reprint author), Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA.
EM megan.y.roberts@northwestern.edu
FU Institute of Education Sciences Training Grant [R305B080025]; Goal 3
Efficacy Grant [R324A090181]
FX This research was supported, in part, by Institute of Education Sciences
Training Grant R305B080025 and Goal 3 Efficacy Grant R324A090181.
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NR 46
TC 1
Z9 1
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 1092-4388
EI 1558-9102
J9 J SPEECH LANG HEAR R
JI J. Speech Lang. Hear. Res.
PD OCT
PY 2014
VL 57
IS 5
BP 1851
EP 1869
DI 10.1044/2014_JSLHR-L-13-0113
PG 19
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ4NZ
UT WOS:000348200500022
PM 24950492
ER
PT J
AU Okamoto, Y
Kitada, R
Tanabe, HC
Hayashi, MJ
Kochiyama, T
Munesue, T
Ishitobi, M
Saito, DN
Yanaka, HT
Omori, M
Wada, Y
Okazawa, H
Sasaki, AT
Morita, T
Itakura, S
Kosaka, H
Sadato, N
AF Okamoto, Yuko
Kitada, Ryo
Tanabe, Hiroki C.
Hayashi, Masamichi J.
Kochiyama, Takanori
Munesue, Toshio
Ishitobi, Makoto
Saito, Daisuke N.
Yanaka, Hisakazu T.
Omori, Masao
Wada, Yuji
Okazawa, Hidehiko
Sasaki, Akihiro T.
Morita, Tomoyo
Itakura, Shoji
Kosaka, Hirotaka
Sadato, Norihiro
TI Attenuation of the contingency detection effect in the extrastriate body
area in autism spectrum disorder
SO NEUROSCIENCE RESEARCH
LA English
DT Article
DE Being imitated; Autism spectrum disorders; Extrastriate body area
ID EVENT-RELATED FMRI; OCCIPITOTEMPORAL CORTEX; COMMUNICATION DISORDERS;
ACTION REPRESENTATION; DIAGNOSTIC INTERVIEW; NEURAL MECHANISMS; MOTOR
ACTIONS; IMITATION; CHILDREN; ACTIVATIONS
AB Detection of the contingency between one's own behavior and consequent social events is important for normal social development, and impaired contingency detection may be a cause of autism spectrum disorder (ASD). To depict the neural underpinnings of this contingency effect, 19 adults with ASD and 22 control participants underwent functional MRI while imitating another's actions and their actions being imitated by the other. As the extrastriate body area (EBA) receives efference copies of one's own movements, we predicted that the EBA would show an atypical response during contingency detection in ASD. We manipulated two factors: the congruency of the executed and observed actions, and the order of action execution and observation. Both groups showed the congruency effect in the bilateral EBA during imitation. When action preceded observation, the left EBA of the control group showed the congruency effect, representing the response to being imitated, indicating contingency detection. The ASD group showed a reduced contingency effect in the left EBA. These results indicate that the function of the EBA in the contingency detection is altered in ASD. (C) 2014 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.
C1 [Okamoto, Yuko; Kitada, Ryo; Tanabe, Hiroki C.; Hayashi, Masamichi J.; Kochiyama, Takanori; Munesue, Toshio; Saito, Daisuke N.] Natl Inst Physiol Sci, Dept Cerebral Res, Div Cerebral Integrat, Okazaki, Aichi 4448585, Japan.
[Okamoto, Yuko; Kitada, Ryo; Tanabe, Hiroki C.; Kochiyama, Takanori; Yanaka, Hisakazu T.; Omori, Masao; Wada, Yuji; Okazawa, Hidehiko; Sadato, Norihiro] Grad Univ Adv Studies Sokendai, Dept Physiol Sci, Hayama, Japan.
[Okamoto, Yuko; Ishitobi, Makoto; Saito, Daisuke N.; Yanaka, Hisakazu T.] Tottori Univ, Fac Reg Sci, Dept Educ, Tottori, Japan.
[Munesue, Toshio; Okazawa, Hidehiko] Nagoya Univ, Grad Sch Environm Studies, Dept Social & Human Environm, Nagoya, Aichi, Japan.
[Saito, Daisuke N.; Wada, Yuji; Morita, Tomoyo] Univ Helsinki, Inst Biomed Physiol, FIN-00014 Helsinki, Finland.
[Kochiyama, Takanori; Yanaka, Hisakazu T.; Morita, Tomoyo] Aalto Univ, Sch Sci, OV Lounasmaa Lab, Brain Res Unit, Espoo, Finland.
[Kochiyama, Takanori; Okazawa, Hidehiko; Sadato, Norihiro] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa, Japan.
[Okazawa, Hidehiko; Itakura, Shoji] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Fukui, Japan.
[Munesue, Toshio; Omori, Masao] Natl Inst Mental Hlth, Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Tokyo, Japan.
[Kosaka, Hirotaka; Sadato, Norihiro] Univ Fukui, Biomed Imaging Res Ctr, Fukui, Japan.
[Yanaka, Hisakazu T.; Okazawa, Hidehiko; Kosaka, Hirotaka] Univ Fukui, Res & Educ Program Life Sci, Fukui, Japan.
[Saito, Daisuke N.; Sasaki, Akihiro T.; Kosaka, Hirotaka] Univ Fukui, Res Ctr Child Mental Dev, Fukui, Japan.
[Omori, Masao; Itakura, Shoji] Fukui Prefectural Univ, Fac Nursing & Social Welf Sci, Fukui, Japan.
[Sasaki, Akihiro T.] Osaka City Univ Med, Grad Sch Med, Dept Physiol, Osaka, Japan.
[Sasaki, Akihiro T.] RIKEN, Ctr Life Sci Technol, Pathophysiol & Hlth Sci Team, Wako, Saitama, Japan.
[Morita, Tomoyo] Natl Inst Physiol Sci, Dept Integrat Physiol, Div Sensori Motor Integrat, Wako, Saitama, Japan.
[Morita, Tomoyo] Osaka Univ, Grad Sch Engn, Dept Adapt Machine Syst, Osaka, Japan.
[Itakura, Shoji] Kyoto Univ, Grad Sch Letters, Dept Psychol, Kyoto, Japan.
[Itakura, Shoji] Adv Telecommun Res Inst Int, Intelligent Robot & Commun Labs, Kyoto, Japan.
RP Sadato, N (reprint author), Natl Inst Physiol Sci, Div Cerebral Integrat, Okazaki, Aichi 4448585, Japan.
EM sadato@nips.ac.jp
FU Japan Society for the Promotion of Science [21220005, 21591509,
21791120, 25871059]; Takeda Science Foundation; Japan Research
Foundation for Clinical Pharmacology; SENSHIN Medical Research
Foundation; Brain Research at Aalto University; University of Helsinki
consortium postdoctoral program
FX This work was partly supported by Grants-in-Aid for Scientific Research
from the Japan Society for the Promotion of Science to N. Sadato
(21220005), T. Munesue (21591509), H. Kosaka (21791120) and R. Kitada
(25871059). Part of this study was the result of the project
"Development of biomarker candidates for social behavior" and
"Integrated research on neuropsychiatric disorders" carried out under
the Strategic Research Program for Brain Sciences by the Ministry of
Education, Culture, Sports, Science, and Technology of Japan (MEXT). H.
Kosaka was also supported by the Takeda Science Foundation, the Japan
Research Foundation for Clinical Pharmacology, and the SENSHIN Medical
Research Foundation. M.J. Hayashi was supported by Brain Research at
Aalto University and University of Helsinki consortium postdoctoral
program.
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0168-0102
EI 1872-8111
J9 NEUROSCI RES
JI Neurosci. Res.
PD OCT
PY 2014
VL 87
BP 66
EP 76
DI 10.1016/j.neures.2014.06.012
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AY7LW
UT WOS:000347742600009
PM 25066523
ER
PT J
AU Geraghty, K
Waxman, SR
Gelman, SA
AF Geraghty, Kathleen
Waxman, Sandra R.
Gelman, Susan A.
TI Learning words from pictures: 15-and 17-month-old infants appreciate the
referential and symbolic links among words, pictures, and objects
SO COGNITIVE DEVELOPMENT
LA English
DT Article
DE Infants; Word learning; Symbolic development; Conceptual development;
Developmental theories; Representation; Learning from pictures
ID CHILDREN; SIMILARITY; LANGUAGE; AUTISM; INFORMATION; ACCOUNT; WAXMAN;
LABELS; BOOTH
AB This experiment was designed to clarify the referential status of infants' newly learned words. We introduced 15- and 17-month-olds to a novel noun, presented in conjunction with pictures of two whisks that differed in color (one purple, one orange). We asked whether infants would extend this newly learned noun to other members of the same kind (other whisks), one differing only in color (a picture of a silver whisk) and another differing in both color and representational medium (a real three-dimensional silver whisk). Fifteen- and 17-month-olds' interpretation of the novel noun was not tethered tightly to the perceptual features with which the word had previously been paired. Instead, their interpretation was sufficiently abstract to include a new member of the same object category, although it differed in color and representational medium (a real silver whisk). Thus, by 15 months, infants appreciate the referential status of words and extend their meaning flexibly from pictures to objects. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Geraghty, Kathleen; Waxman, Sandra R.] Northwestern Univ, Evanston, IL 60208 USA.
[Gelman, Susan A.] Univ Michigan, Ann Arbor, MI 48109 USA.
RP Geraghty, K (reprint author), Northwestern Univ, Dept Psychol, 2029 Sheridan Rd, Evanston, IL 60208 USA.
EM k-geraghty@u.northwestern.edu
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NR 33
TC 1
Z9 1
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 OCT-DEC
PY 2014
VL 32
BP 1
EP 11
DI 10.1016/j.cogdev.2014.04.003
PG 11
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AY7WN
UT WOS:000347766800001
ER
PT J
AU Christov-Moore, L
Simpson, EA
Coude, G
Grigaityte, K
Iacoboni, M
Ferrari, PF
AF Christov-Moore, Leonardo
Simpson, Elizabeth A.
Coude, Gino
Grigaityte, Kristina
Iacoboni, Marco
Ferrari, Pier Francesco
TI Empathy: Gender effects in brain and behavior
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Article
DE Ontogeny; Gender; Sex; Contagion; Mimicry; Prosocial; Helping; Emotion;
Mirror neuron system; Development; Evolution
ID MIRROR-NEURON SYSTEM; DELIBERATE VICARIOUS REPRESENTATIONS; EMOTIONAL
FACIAL EXPRESSIONS; AUTISM SPECTRUM DISORDERS; TOY PREFERENCES PARALLEL;
2ND-TO-4TH DIGIT RATIO; EARLY SEX-DIFFERENCES; INDIVIDUAL-DIFFERENCES;
PERSPECTIVE-TAKING; MOTOR FACILITATION
AB Evidence suggests that there are differences in the capacity for empathy between males and females. However, how deep do these differences go? Stereotypically, females are portrayed as more nurturing and empathetic, while males are portrayed as less emotional and more cognitive. Some authors suggest that observed gender differences might be largely due to cultural expectations about gender roles. However, empathy has both evolutionary and developmental precursors, and can be studied using implicit measures, aspects that can help elucidate the respective roles of culture and biology. This article reviews evidence from ethology, social psychology, economics, and neuroscience to show that there are fundamental differences in implicit measures of empathy, with parallels in development and evolution. Studies in nonhuman animals and younger human populations (infants/children) offer converging evidence that sex differences in empathy have phylogenetic and ontogenetic roots in biology and are not merely cultural byproducts driven by socialization. We review how these differences may have arisen in response to males' and females' different roles throughout evolution. Examinations of the neurobiological underpinnings of empathy reveal important quantitative gender differences in the basic networks involved in affective and cognitive forms of empathy, as well as a qualitative divergence between the sexes in how emotional information is integrated to support decision making processes. Finally, the study of gender differences in empathy can be improved by designing studies with greater statistical power and considering variables implicit in gender (e.g., sexual preference, prenatal hormone exposure). These improvements may also help uncover the nature of neurodevelopmental and psychiatric disorders in which one sex is more vulnerable to compromised social competence associated with impaired empathy. (C) 2014 Published by Elsevier Ltd.
C1 [Christov-Moore, Leonardo; Grigaityte, Kristina; Iacoboni, Marco] Univ Calif Los Angeles, Brain Res Inst, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA 90095 USA.
[Iacoboni, Marco] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA.
[Simpson, Elizabeth A.; Coude, Gino; Ferrari, Pier Francesco] Univ Parma, Dipartimento Neurosci, I-43125 Parma, Italy.
[Simpson, Elizabeth A.] NICHHD, NIH, Dickerson, MD 20842 USA.
[Grigaityte, Kristina] Univ Edinburgh, Edinburgh, Midlothian, Scotland.
RP Ferrari, PF (reprint author), Univ Parma, Dipartimento Neurosci, Via Volturno 39, I-43125 Parma, Italy.
EM pierfrancesco.ferrari@unipr.it
FU NICHD [P01HD064653]; NIH [1R21MH097178]; NSF Graduate Fellowship
[DGE-1144087]
FX This work was supported by NICHD P01HD064653 to P. F.F., by NIH grant
1R21MH097178 to M.I., and by NSF Graduate Fellowship DGE-1144087 to
L.C.-M.
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NR 348
TC 2
Z9 2
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0149-7634
EI 1873-7528
J9 NEUROSCI BIOBEHAV R
JI Neurosci. Biobehav. Rev.
PD OCT
PY 2014
VL 46
SI SI
BP 604
EP 627
DI 10.1016/j.neubiorev.2014.09.001
PN 4
PG 24
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AZ1QJ
UT WOS:000348012800012
PM 25236781
ER
PT J
AU Bogels, SM
Hellemans, J
van Deursen, S
Romer, M
van der Meulen, R
AF Bogels, Susan M.
Hellemans, Joke
van Deursen, Saskia
Romer, Marieke
van der Meulen, Rachel
TI Mindful Parenting in Mental Health Care: Effects on Parental and Child
Psychopathology, Parental Stress, Parenting, Coparenting, and Marital
Functioning
SO MINDFULNESS
LA English
DT Article
DE Mindful Parenting; Child psychopathology; Parental psychopathology;
Parenting; Coparenting; Parental stress
ID DECREASES AGGRESSION; TREATMENT RESPONSE; SELF-REPORT; FOLLOW-UP; ADHD;
BEHAVIOR; MODERATORS; PRESCHOOL; FAMILIES; AUTISM
AB This study evaluated the acceptability and effects of a Mindful Parenting course in mental health care. Parents (n = 86) referred to secondary mental health care because of their children's and/or their own psychopathology, or parent-child relationship problems, followed a Mindful Parenting course in a group format (10 groups). Assessments took place just before the course (pre-test), immediately after the nine-week course (post-test), and at 8-week follow-up. A waitlist assessment took place only for those parents who had to wait for a course (n = 23). Measures concerned parent report of psychopathology symptoms of their target child, as well as their own psychopathology symptoms, parental stress, parenting behaviors, coparenting, and marital functioning. Only one parent dropped out and parents evaluated the program as valuable and effective in many areas of family functioning. No improvement was reported during waitlist, except for an improvement in parental externalizing symptoms. Improvements after the course occurred in the target child's internalizing and externalizing psychopathology symptoms, parents' own internalizing symptoms and further improvement on their externalizing symptoms. Also, improvements occurred on parental stress, parenting, and coparenting, but not on marital functioning. Improvements were generally maintained at follow-up. In conclusion, the very low dropout rate as well as the positive evaluations, suggest that Mindful Parenting is an acceptable and feasible intervention in mental health care. Mindful Parenting appears a promising new intervention for parents in mental health care, as it seems effective on a broad range of child, parent, and family variables. Studies comparing Mindful Parenting to other effective interventions, such as Parent Management training, are needed to gain more knowledge about its relative and differential effectiveness.
C1 [Bogels, Susan M.; Hellemans, Joke; van der Meulen, Rachel] UvA Minds Acad Treatment Ctr Parent & Child, NL-1018 TV Amsterdam, Netherlands.
[van Deursen, Saskia; Romer, Marieke] Lorentzhuis, Ctr Family Therapy Training & Consultat, NL-2012 EM Haarlem, Netherlands.
RP Bogels, SM (reprint author), UvA Minds Acad Treatment Ctr Parent & Child, Plantage Muidergracht 14, NL-1018 TV Amsterdam, Netherlands.
EM s.m.bogels@uva.nl
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NR 73
TC 1
Z9 1
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1868-8527
EI 1868-8535
J9 MINDFULNESS
JI Mindfulness
PD OCT
PY 2014
VL 5
IS 5
BP 536
EP 551
DI 10.1007/s12671-013-0209-7
PG 16
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AX0IB
UT WOS:000346635000008
ER
PT J
AU Bakken, TL
Hoidal, SH
AF Bakken, Trine L.
Hoidal, Siv H.
TI Asperger syndrome or schizophrenia, or both? Case identification of 12
adults in a specialized psychiatric inpatient unit
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Asperger syndrome; schizophrenia; adults; misdiagnosis
ID AUTISM SPECTRUM DISORDERS; THOUGHT-DISORDER; CHILDHOOD; PSYCHOPATHOLOGY;
COMMUNICATION; PREVALENCE; LANGUAGE; PEOPLE
AB Background: Asperger syndrome (AS) may be difficult to distinguish from psychosis in the schizophrenia spectrum (PSS), as the two conditions share core features. Aim: The aim of this paper is to identify symptoms which are useful in the differential diagnostic process, and which symptoms cause confusion in the assessment.
Methods: Twelve patients, consecutively referred to a specialized psychiatric inpatient unit for re-diagnostic assessment, were recruited in a 3-year period. The patients were systematically assessed for both AS and for psychotic disorder in the schizophrenia spectrum.
Results: Symptoms that caused misdiagnosis in the present sample were especially idiosyncratic speech taken for delusions (or the reverse), dysfunction related to self-care, task solving, and relationships, and social impairment taken for negative symptoms (or the reverse). Useful areas were symptom onset, symptoms of disorganized speech, occurrence of hallucinations, and occurrence of relapses. The latter contributed to diagnostic clarity related to PSS only.
Conclusion: Patients with both AS and PSS may show severe symptoms which usually are difficult to distinguish. When both AS and PSS are suspected in severely impaired adult patients, comprehensive assessment including both AS and PSS is required. Symptoms that may differentiate PSS from AS are age of onset, presence of hallucinations, presence of disorganized speech and behaviour, and occurrence of relapses. Confusing symptoms include social impairments, and idiosyncratic opinions in persons with AS, which may be mistaken for delusions (or the reverse). Also bizarre behaviour and general dysfunction may be wrongly attributed to AS or PSS.
C1 [Bakken, Trine L.; Hoidal, Siv H.] Oslo Univ Hosp, Oslo, Norway.
RP Bakken, TL (reprint author), Oslo Univ Hosp, Oslo, Norway.
EM Trine.Lise.Bakken@ous-hf.no
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 46
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD OCT
PY 2014
VL 60
IS 4
BP 215
EP 225
DI 10.1179/2047387713Y.0000000022
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AW9TC
UT WOS:000346599100002
ER
PT J
AU Hirata, S
Okuzumi, H
Kitajima, Y
Hosobuchi, T
Nakai, A
Kokubun, M
AF Hirata, Shogo
Okuzumi, Hideyuki
Kitajima, Yoshio
Hosobuchi, Tomio
Nakai, Akio
Kokubun, Mitsuru
TI Relationship between motor skill and social impairment in children with
autism spectrum disorders
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE autism spectrum disorders; motor skill impairment; manual dexterity;
social impairment
AB Aim: The purpose of this study was to investigate the relationship between motor skill and social impairment in children with autism spectrum disorders (ASD).
Methods: The subjects were 26 children with ASD aged 7-16 years. Their intelligence quotients (IQ) ranged from 73 to 124. We conducted two tasks: movement assessment battery for children-2 (MABC-2) and social responsiveness scale (SRS). The MABC-2 is a motor test that can assess total motor ability, and three sub-domain abilities. SRS is a parent questionnaire that can assess individual differences in social impairment.
Results: In the children with ASD in this study, difficulty with manual dexterity was the most frequently occurring problem. Also, their individual differences in social impairment were strongly interrelated with problems with manual dexterity.
Interpretation: These results suggest that when MABC-2 is administered to children with ASD but without severe cognitive impairment, due attention should be paid to their manual dexterity (MD) score.
C1 [Hirata, Shogo; Kitajima, Yoshio] Chiba Univ, Chiba 2638522, Japan.
[Okuzumi, Hideyuki; Kokubun, Mitsuru] Tokyo Gakugei Univ, Tokyo, Japan.
[Hosobuchi, Tomio] Saitama Univ, Saitama, Japan.
[Nakai, Akio] Univ Fukui, Fukui, Japan.
RP Hirata, S (reprint author), Chiba Univ, Inage Ku, 1-33 Yayoi, Chiba 2638522, Japan.
EM r093002g@st.u-gakugei.ac.jp
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bhat A. N., 2011, PHYS THER, V91, P1176
Constantino JN, 2005, SOCIAL RESPONSIVENES
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Henderson SE, 1992, MOVEMENT ASSESSMENT
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Japanese WISC-4 Publication Committee, 2010, WECHSL INT SCAL CHIL
Papadopoulos N, 2012, RES AUTISM SPECT DIS, V6, P286, DOI 10.1016/j.rasd.2011.05.010
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SPSS, 2004, SPSS 12 0 WIND
von Hofsten C., 2012, FRONT INT NEUROSCI, V6, P1
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NR 15
TC 0
Z9 0
PU MANEY PUBLISHING
PI LEEDS
PA STE 1C, JOSEPHS WELL, HANOVER WALK, LEEDS LS3 1AB, W YORKS, ENGLAND
SN 2047-3869
EI 2047-3877
J9 INT J DEV DISABIL
JI Int. J. Dev. Disabil.
PD OCT
PY 2014
VL 60
IS 4
BP 251
EP 256
DI 10.1179/2047387713Y.0000000033
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AW9TC
UT WOS:000346599100006
ER
PT J
AU Prandini, P
Zusi, C
Malerba, G
Pignatti, PF
Trabetti, E
AF Prandini, Paola
Zusi, Chiara
Malerba, Giovanni
Pignatti, Pier Franco
Trabetti, Elisabetta
CA ITAN
TI Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of
Italian discordant autism spectrum disorders sib-pairs
SO MOLECULAR AND CELLULAR PROBES
LA English
DT Article
DE Autism; RBFOX1 gene; Gene expression; Lymphocytes; Lymphoblastoid cell
lines
ID NEURONAL DEVELOPMENT; PATHWAYS; DELETION
AB Several lines of evidence suggest that RBFOX1 is a key regulator of transcriptional and splicing programs in neural cells during development, and that it is expressed in a neuronal module enriched for known autism susceptibility genes. We have investigated its expression by semiquantitative RT-PCR in accessible nonbrain resources in eighteen autism spectrum disorder sib-pairs belonging to the Italian Autism Network cohort. RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes. No significant differences between autism spectrum disorders and non-affected brothers were found. We were not able to replicate in lymphoblastoid cell lines the previously reported RBFOXI gene downregulation in autism, even if a trend was observed. This might be due to less pronounced transcription level differences in RBFOX1 gene expression in lymphoblastoid cell lines than in brain samples. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Prandini, Paola; Zusi, Chiara; Malerba, Giovanni; Pignatti, Pier Franco; Trabetti, Elisabetta] Univ Verona, Dept Life & Reprod Sci, I-37134 Verona, Italy.
[ITAN] ITAN Italian Autism Network, Verona, Italy.
RP Trabetti, E (reprint author), Univ Verona, Dept Life & Reprod Sci, Str Le Grazie 8, I-37134 Verona, Italy.
EM elisabetta.trabetti@univr.it
FU SmithKline Foundation; University of Verona; Italian Ministry of
Education; University and Research
FX This work was supported by the SmithKline Foundation, the University of
Verona, and the Italian Ministry of Education, University and Research.
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NR 19
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0890-8508
J9 MOL CELL PROBE
JI Mol. Cell. Probes
PD OCT-DEC
PY 2014
VL 28
IS 5-6
BP 242
EP 245
DI 10.1016/j.mcp.2014.05.001
PG 4
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
Biotechnology & Applied Microbiology; Cell Biology
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Cell Biology
GA AW7QW
UT WOS:000346460600006
PM 24938762
ER
PT J
AU Handt, M
Epplen, A
Hoffjan, S
Mese, K
Epplen, JT
Dekomien, G
AF Handt, Maximilian
Epplen, Andrea
Hoffjan, Sabine
Mese, Kemal
Epplen, Joerg T.
Dekomien, Gabriele
TI Point mutation frequency in the FMR1 gene as revealed by fragile X
syndrome screening
SO MOLECULAR AND CELLULAR PROBES
LA English
DT Article
DE Fragile X syndrome; FMR1; Missense mutation; Mental retardation; High
resolution melting (HRM) analysis
ID RESOLUTION MELTING ANALYSIS; MENTAL-RETARDATION PROTEIN;
OF-THE-LITERATURE; MESSENGER-RNA; RETARDED MALES; CGG REPEAT; INTRON 10;
IDENTIFICATION; METHYLATION; DNA
AB Fragile X syndrome (FXS) is a common cause of intellectual disability, developmental delay and autism spectrum disorders. This syndrome is due to a functional loss of the FMR1 gene product FMRP, and, in most cases, it is caused by CGG repeat expansion in the FMR1 promoter. Yet, also other FMR1 mutations may cause a FXS-like phenotype. Since standard molecular testing does not include the analysis of the FMR1 coding region, the prevalence of point mutations causing FXS is not well known. Here, high resolution melting (HRM) was used to screen for FMR1 gene mutations in 508 males with clinical signs of mental retardation and developmental delay, but without CGG and GCC repeat expansions in the FMR1 gene and AFF2 genes, respectively. Sequence variations were identified by HRM analysis and verified by direct DNA sequencing. Two novel missense mutations (p.Gly482Ser in one patient and p.Arg534His in two unrelated patients), one intronic and two 3'-untranslated region (UTR) variations were identified in the FMR1 gene. Missense mutations in the FMR1 gene might account for a considerable proportion of cases in male patients with FXS-related symptoms, such as those linked to mental retardation and developmental delay. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Handt, Maximilian; Mese, Kemal; Epplen, Joerg T.] Univ Witten Herdecke, Fac Hlth, D-58448 Witten, Germany.
[Epplen, Andrea; Hoffjan, Sabine; Epplen, Joerg T.; Dekomien, Gabriele] Ruhr Univ Bochum, D-44801 Bochum, Germany.
RP Dekomien, G (reprint author), Ruhr Univ Bochum, Univ Str 150, D-44801 Bochum, Germany.
EM gabriele.dekomien@rub.de
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NR 57
TC 1
Z9 1
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0890-8508
J9 MOL CELL PROBE
JI Mol. Cell. Probes
PD OCT-DEC
PY 2014
VL 28
IS 5-6
BP 279
EP 283
DI 10.1016/j.mcp.2014.08.003
PG 5
WC Biochemical Research Methods; Biochemistry & Molecular Biology;
Biotechnology & Applied Microbiology; Cell Biology
SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology;
Cell Biology
GA AW7QW
UT WOS:000346460600013
PM 25171808
ER
PT J
AU VanDam, M
AF VanDam, Mark
TI Acoustic characteristics of the clothes used for a wearable recording
device
SO JOURNAL OF THE ACOUSTICAL SOCIETY OF AMERICA
LA English
DT Article
ID AUTOMATED VOCAL ANALYSIS; INFANT VOCALIZATIONS; LANGUAGE; CHILDREN;
AUTISM
AB There has been increasing attention in the literature to wearable acoustic recording devices, particularly to examine naturalistic speech in disordered and child populations. Recordings are typically analyzed using automatic procedures that critically depend on the reliability of the collected signal. This work describes the acoustic amplitude response characteristics and the possibility of acoustic transmission loss using several shirts designed for wearable recorders. No difference was observed between the response characteristics of different shirt types or between shirts and the bare-microphone condition. Results are relevant for research, clinical, educational, and home applications in both practical and theoretical terms. (C) 2014 Acoustical Society of America
C1 Washington State Univ, Dept Speech & Hearing Sci, Coll Med Sci, Spokane, WA 99202 USA.
RP VanDam, M (reprint author), Washington State Univ, Dept Speech & Hearing Sci, Coll Med Sci, 412 East Spokane Falls Blvd, Spokane, WA 99202 USA.
EM mark.vanDam@wsu.edu
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NR 16
TC 0
Z9 0
PU ACOUSTICAL SOC AMER AMER INST PHYSICS
PI MELVILLE
PA STE 1 NO 1, 2 HUNTINGTON QUADRANGLE, MELVILLE, NY 11747-4502 USA
SN 0001-4966
EI 1520-8524
J9 J ACOUST SOC AM
JI J. Acoust. Soc. Am.
PD OCT
PY 2014
VL 136
IS 4
BP EL263
EP EL267
DI 10.1121/1.4895015
PG 5
WC Acoustics; Audiology & Speech-Language Pathology
SC Acoustics; Audiology & Speech-Language Pathology
GA AW0JF
UT WOS:000345977400003
PM 25324108
ER
PT J
AU Johnson, B
Ulberg, S
Shivale, S
Donaldson, J
Milczarski, B
Faraone, SV
AF Johnson, Brian
Ulberg, Scott
Shivale, Swati
Donaldson, Jeffrey
Milczarski, Ben
Faraone, Stephen V.
TI Fibromyalgia, Autism, and Opioid Addiction as Natural and Induced
Disorders of the Endogenous Opioid Hormonal System
SO DISCOVERY MEDICINE
LA English
DT Article
ID LOW-DOSE NALTREXONE; RECEPTOR GENE OPRM1; BETA-ENDORPHIN;
INFANTILE-AUTISM; DOUBLE-BLIND; PAIN; CHILDREN; REWARD; SENSITIVITY;
DEPENDENCE
AB Introduction: Because of their circulation through the blood, the multiplicity of receptor sites, and the diversity of functions, opioids may most accurately be designated as a hormone. Opioids modulate the intensity of pain. In mammals, the opioid system has been modified to modulate social interactions as well (Panksepp and Watt, 2011). Methods: Over 10,000 patient encounters were observed on a neuropsychoanalytic addiction medicine service. Cold pressor times (CPT) were recorded before and after stimulation of the opioid system with low-dose naltrexone (LDN) for patients after opioid detoxification and for fibromyalgia patients. Results: Patients maintained on opioids relate autistically. The cold, unrelated nature of their human interactions was reversed by detoxification from opioids. Fibromyalgia patients have difficulty participating in human relationships, as if they lack an ability to respond interpersonally, as do post-detoxification patients. LDN improved pain tolerance as shown by a significant increase on CPT for post detoxification patients from 16 seconds to 55 seconds and in fibromyalgia patients from 21 seconds to 42 seconds, and improved relatedness. The correlation of opioid prescribing increasing over time and autism prevalence increasing over time is highly significant. Conclusions: 1. Opioid-maintained patients relate autistically. 2. Autism is a hyperopioidergic disorder. 3. Fibromylagia is a hypoopioidergic disorder. 4. Low opioid tone caused by opioid maintenance or fibromyalgia can usually be reversed with low-dose naltrexone. 5. The increase in the incidence of autism may have been caused by the increase in use of opioids for analgesia during childbirth.
C1 [Johnson, Brian; Ulberg, Scott; Shivale, Swati; Donaldson, Jeffrey; Milczarski, Ben; Faraone, Stephen V.] SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, Syracuse, NY 13210 USA.
RP Johnson, B (reprint author), SUNY Upstate Med Univ, Dept Psychiat & Behav Sci, Syracuse, NY 13210 USA.
EM johnsonb@upstate.edu
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NR 59
TC 0
Z9 0
PU DISCOVERY MEDICINE
PI TIMONIUM
PA 10 GERARD AVE, STE 201, TIMONIUM, MD 21093 USA
SN 1539-6509
EI 1944-7930
J9 DISCOV MED
JI Discov. Med.
PD OCT
PY 2014
VL 99
BP 209
EP 220
PG 12
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AU1RY
UT WOS:000345399100006
ER
PT J
AU Donaldson, AL
Stahmer, AC
AF Donaldson, Amy L.
Stahmer, Aubyn C.
TI Team Collaboration: The Use of Behavior Principles for Serving Students
With ASD
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; EARLY INTERVENTION; YOUNG-CHILDREN;
SOCIAL-SKILLS; COMMUNICATION INTERVENTIONS; DEVELOPMENTAL-DISABILITIES;
SPECIAL-EDUCATION; JOINT ATTENTION; SINGLE-SUBJECT; SYMBOLIC PLAY
AB Purpose: Speech-language pathologists (SLPs) and behavior analysts are key members of school-based teams that serve children with autism spectrum disorders (ASD). Behavior analysts approach assessment and intervention through the lens of applied behavior analysis (ABA). ABA-based interventions have been found effective for targeting skills across multiple domains for children with ASD. However, some SLPs may be unfamiliar with the breadth of ABA-based interventions. The intent of this tutorial is to briefly introduce key ABA principles, provide examples of ABA-based interventions used within schools, and identify strategies for successful collaboration between behavior analysts and SLPs.
Method: This tutorial draws from empirical studies of ABA-based interventions for children with ASD within school settings, as well as discussions in the extant literature about the use of behavior principles by SLPs and strategies for interdisciplinary collaboration.
Conclusion: Given the prevalence of ASD at 1 in 68 children (Centers for Disease Control and Prevention, 2014) and the high cost of serving these children within schools (an average cost of 286% over regular education; Chambers, Shkolnik, & Perez, 2003), the need for effective, comprehensive service provision and efficiency within interdisciplinary teams is paramount. Communication, mutual understanding, and recognition of common ground between SLPs and behavior analysts can lead to successful collaboration.
C1 [Donaldson, Amy L.] Portland State Univ, Portland, OR 97207 USA.
[Stahmer, Aubyn C.] Child & Adolescent Serv Res Ctr, San Diego, CA USA.
[Stahmer, Aubyn C.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Stahmer, Aubyn C.] Rady Childrens Hosp, Autism Discovery Inst, San Diego, CA USA.
RP Donaldson, AL (reprint author), Portland State Univ, Portland, OR 97207 USA.
EM adonald@pdx.edu
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American Speech-Language-Hearing Association, 2013, CLINICAL TOPICS DEME
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NR 102
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 0161-1461
EI 1558-9129
J9 LANG SPEECH HEAR SER
JI Lang. Speech Hear. Serv. Sch.
PD OCT
PY 2014
VL 45
IS 4
BP 261
EP 276
DI 10.1044/2014_LSHSS-14-0038
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YX
UT WOS:000345680400003
PM 25091620
ER
PT J
AU Ebert, KD
Scott, CM
AF Ebert, Kerry Danahy
Scott, Cheryl M.
TI Relationships Between Narrative Language Samples and Norm-Referenced
Test Scores in Language Assessments of School-Age Children
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
ID KINDERGARTEN-CHILDREN; SYNTACTIC DEVELOPMENT; EXPOSITORY DISCOURSE;
SPEAKING CHILDREN; IMPAIRMENT; AUTISM; ADOLESCENTS; DIAGNOSIS; ENGLISH
AB Purpose: Both narrative language samples and norm-referenced language tests can be important components of language assessment for school-age children. The present study explored the relationship between these 2 tools within a group of children referred for language assessment.
Method: The study is a retrospective analysis of clinical records from 73 school-age children. Participants had completed an oral narrative language sample and at least one norm-referenced language test. Correlations between microstructural language sample measures and norm-referenced test scores were compared for younger (6- to 8-year-old) and older (9- to 12-year-old) children. Contingency tables were constructed to compare the 2 types of tools, at 2 different cutpoints, in terms of which children were identified as having a language disorder.
Results: Correlations between narrative language sample measures and norm-referenced tests were stronger for the younger group than the older group. Within the younger group, the level of language assessed by each measure contributed to associations among measures. Contingency analyses revealed moderate overlap in the children identified by each tool, with agreement affected by the cutpoint used.
Conclusions: Narrative language samples may complement norm-referenced tests well, but age combined with narrative task can be expected to influence the nature of the relationship.
C1 [Ebert, Kerry Danahy; Scott, Cheryl M.] Rush Univ, Chicago, IL 60612 USA.
RP Ebert, KD (reprint author), Rush Univ, Chicago, IL 60612 USA.
EM Kerry_ebert@rush.edu
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NR 42
TC 0
Z9 0
PU AMER SPEECH-LANGUAGE-HEARING ASSOC
PI ROCKVILLE
PA 10801 ROCKVILLE PIKE, ROCKVILLE, MD 20852-3279 USA
SN 0161-1461
EI 1558-9129
J9 LANG SPEECH HEAR SER
JI Lang. Speech Hear. Serv. Sch.
PD OCT
PY 2014
VL 45
IS 4
BP 337
EP 350
DI 10.1044/2014_LSHSS-14-0034
PG 14
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YX
UT WOS:000345680400009
ER
PT J
AU Weinger, PM
Zemon, V
Soorya, L
Gordon, J
AF Weinger, Paige M.
Zemon, Vance
Soorya, Latha
Gordon, James
TI Low-contrast response deficits and increased neural noise in children
with autism spectrum disorder
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorder; Visual evoked potential; Early-stage visual
processing; ON and OFF pathways; Neural noise
ID VISUALLY EVOKED POTENTIALS; HIGH-FUNCTIONING AUTISM; MACAQUE STRIATE
CORTEX; PROCESSING ABNORMALITIES; SPATIAL-FREQUENCY; PERCEPTION; MOTION;
SENSITIVITY; BRAIN; ADOLESCENTS
AB A battery of short-duration neurophysiological tests were designed and implemented using visual evoked potentials (VEPs) to examine specific neural mechanisms in children with and without autism spectrum disorder (ASD). Contrast-sweep conditions (bright or dark isolated-checks) were used to elicit steady-state VEPs to examine the integrity of ON/OFF pathways. Children with ASD displayed deficits in low-contrast responses at the stimulus frequency of 12.5 Hz, notably under conditions that emphasized activity in the magnocellular pathway. Signal-to-noise ratios were weaker in the ASD group, particularly for the OFF pathway. There were no group differences in the amplitude of responses. In addition, the ASD group displayed significantly higher levels of neural noise than controls. For the response at the stimulus frequency, the ASD group produced a relatively constant level of noise across the contrast range tested, with higher levels than controls at low contrasts and approximately equal levels of noise at moderate to high contrasts. Published by Elsevier Ltd.
C1 [Weinger, Paige M.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr, New York, NY 10029 USA.
[Soorya, Latha] Rush Univ, Med Ctr, Chicago, IL 60612 USA.
[Zemon, Vance] Yeshiva Univ, New York, NY 10033 USA.
[Gordon, James] Hunter Coll, New York, NY USA.
RP Weinger, PM (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr, One Gustave Levy Pl,Box 1230 Atran Bldg E Level,R, New York, NY 10029 USA.
EM paige.weinger@mssm.edu
FU Autism Speaks [8685]
FX We would like to thank the children and families who participated in
this study and the individuals who assisted with recruitment and data
collection. A special thank you to Valerie Nunez, Theresa Navalta,
Adeola Harewood, Stacey Lurie and Jesslyn Jaminson. This work was
partially supported by Autism Speaks (Grant #8685).
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 66
TC 1
Z9 1
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 OCT
PY 2014
VL 63
BP 10
EP 18
DI 10.1016/j.neuropsychologia.2014.07.031
PG 9
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100002
PM 25107679
ER
PT J
AU Verhallen, RJ
Bosten, JM
Goodbourn, PT
Bargary, G
Lawrance-Owen, AJ
Mollon, JD
AF Verhallen, Roeland J.
Bosten, Jenny M.
Goodbourn, Patrick T.
Bargary, Gary
Lawrance-Owen, Adam J.
Mollon, J. D.
TI An online version of the Mooney Face Test: phenotypic and genetic
associations
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face perception; Mooney Face Test; Closure; Gestalt perception;
Individual differences; Genome-wide association study (GWAS); RAPGEF5;
rs1522280
ID SUBJECTIVE CONTOUR ILLUSIONS; AUTISM SPECTRUM DISORDERS; HOLISTIC
PERCEPTION; FUNCTIONING AUTISM; VISUAL CLOSURE; TEMPORAL-LOBE;
RECOGNITION; ABILITY; IDENTIFICATION; PERFORMANCE
AB The Mooney Face Test is a widely used test of face perception, but was originally designed to be administered by personal interview. We have developed a three-alternative forced-choice version for online testing. We tested 397 healthy adults between the ages of 18 and 42 (M=24 years). There was a wide range of performance (64-100% correct; M=89.6%). We observed a significant sex difference favoring males (.31 standard deviation; p =.004). In addition, independently of sex, higher 2D:4D digit ratios were significantly associated with higher scores (rho=.14, p=.006). A genome-wide association study (GWAS) for a subset of 370 participants identified an association between Mooney performance and a polymorphism in the RAPGEF5 gene (rs1522280; p=9.68 x 10(-8)). This association survives a permutation test (p=.031). (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Verhallen, Roeland J.; Bosten, Jenny M.; Goodbourn, Patrick T.; Lawrance-Owen, Adam J.; Mollon, J. D.] Univ Cambridge, Dept Psychol, Cambridge CB2 3EB, England.
[Goodbourn, Patrick T.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Bargary, Gary] City Univ London, Appl Vis Res Ctr, London EC1V 0HB, England.
RP Verhallen, RJ (reprint author), Univ Cambridge, Dept Psychol, Downing St, Cambridge CB2 3EB, England.
EM rjv31@cam.ac.uk
FU Gatsby Charitable Foundation [GAT2903]
FX This work was supported by the Gatsby Charitable Foundation (GAT2903).
We thank Horace Barlow, Roger Freedman, Graeme Mitchison, and Richard
Durbin for their roles in initiating the PERGENIC project. We are
grateful to Emily Clemente, Julien Bauer and Kerry Cliffe of Cambridge
Genomic Services for their valuable help.
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NR 54
TC 0
Z9 0
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 OCT
PY 2014
VL 63
BP 19
EP 25
DI 10.1016/j.neuropsychologia.2014.08.011
PG 7
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100003
PM 25138019
ER
PT J
AU Ichikawa, H
Nakato, E
Kanazawa, S
Shimamura, K
Sakuta, Y
Sakuta, R
Yamaguchi, MK
Kakigi, R
AF Ichikawa, Hiroko
Nakato, Emi
Kanazawa, So
Shimamura, Keiichi
Sakuta, Yuiko
Sakuta, Ryoichi
Yamaguchi, Masami K.
Kakigi, Ryusuke
TI Hemodynamic response of children with attention-deficit and hyperactive
disorder (ADHD) to emotional facial expressions
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face processing; ADHD; Near-infrared spectroscopy; NIRS;
Occipito-temporal area
ID NEAR-INFRARED SPECTROSCOPY; SUPERIOR TEMPORAL SULCUS;
DEFICIT/HYPERACTIVITY DISORDER; FACE PERCEPTION; GAZE-DIRECTION; HUMAN
BRAIN; RECOGNITION; CORTEX; ACTIVATION; AUTISM
AB Children with attention-deficit/hyperactivity disorder (ADHD) have difficulty recognizing facial expressions. They identify angry expressions less accurately than typically developing (TD) children, yet little is known about their atypical neural basis for the recognition of facial expressions. Here, we used near-infrared spectroscopy (NIRS) to examine the distinctive cerebral hemodynamics of ADHD and TD children while they viewed happy and angry expressions. We measured the hemodynamic responses of 13 ADHD boys and 13 TD boys to happy and angry expressions at their bilateral temporal areas, which are sensitive to face processing. The ADHD children showed an increased concentration of oxy-Hb for happy faces but not for angry faces, while TD children showed increased oxy-Hb for both faces. Moreover, the individual peak latency of hemodynamic response in the right temporal area showed significantly greater variance in the ADHD group than in the TD group. Such atypical brain activity observed in ADHD boys may relate to their preserved ability to recognize a happy expression and their difficulty recognizing an angry expression. We firstly demonstrated that NIRS can be used to detect atypical hemodynamic response to facial expressions in ADHD children. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Ichikawa, Hiroko; Yamaguchi, Masami K.] Chuo Univ, Dept Psychol, Hachioji, Tokyo 1920393, Japan.
[Ichikawa, Hiroko; Sakuta, Yuiko; Yamaguchi, Masami K.] Chuo Univ, Res & Dev Initiat, Tokyo 1128551, Japan.
[Ichikawa, Hiroko] Japan Soc Promot Sci, Chiyoda Ku, Tokyo 1028471, Japan.
[Nakato, Emi] Osaka Shoin Womens Univ, Dept Clothing Sci, Higashiosaka, Osaka 5778550, Japan.
[Kanazawa, So] Japan Womens Univ, Dept Psychol, Kawasaki, Kanagawa 2148565, Japan.
[Shimamura, Keiichi; Sakuta, Ryoichi] Dokkyo Med Univ, Koshigaya Hosp, Ctr Child Dev & Psychosomat Med, Koshigaya, Saitama 3430845, Japan.
[Kakigi, Ryusuke] Natl Inst Physiol Sci, Dept Integrat Physiol, Okazaki, Aichi 4448585, Japan.
RP Ichikawa, H (reprint author), Chuo Univ, Dept Psychol, Hachioji, Tokyo 1920393, Japan.
EM ichihiro@tamacc.chuo-u.ac.jp
FU MEXT KAKENHI [20119002]; JSPS KAKENHI [26120529]; JSPS Research
Fellowships for Young Scientists from the Japan Society for the
Promotion of Science [24 7809]
FX This study was supported by Grant-in-Aid for Scientific Research on
Innovative Areas, 'Face perception and recognition' from MEXT KAKENHI
[20119002 to M. K. Y.]; Grant-in-Aid for Scientific Research on
Innovative Areas, "Sparse Modeling" from JSPS KAKENHI (26120529 to H.
I.); and Grant-in-Aid for Scientific Research by JSPS Research
Fellowships for Young Scientists [24 7809 to H. I.] from the Japan
Society for the Promotion of Science. The authors report no biomedical
financial interests.
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NR 55
TC 0
Z9 0
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 OCT
PY 2014
VL 63
BP 51
EP 58
DI 10.1016/j.neuropsychologia.2014.08.010
PG 8
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100007
PM 25152531
ER
PT J
AU Wang, S
Xu, J
Jiang, M
Zhao, Q
Hurlemann, R
Adolphs, R
AF Wang, Shuo
Xu, Juan
Jiang, Ming
Zhao, Qi
Hurlemann, Rene
Adolphs, Ralph
TI Autism spectrum disorder, but not amygdala lesions, impairs social
attention in visual search
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Visual search; Autism; Amygdala; Saliency; Social
ID HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSIONS; EMOTIONAL FACES;
CIRCUMSCRIBED ATTENTION; BILATERAL DAMAGE; MONKEY AMYGDALA;
YOUNG-CHILDREN; TEMPORAL-LOBE; ATYPICAL GAZE; BRAIN
AB People with autism spectrum disorders (ASD) have pervasive impairments in social interactions, a diagnostic component that may have its roots in atypical social motivation and attention. One of the brain structures implicated in the social abnormalities seen in ASD is the amygdala. To further characterize the impairment of people with ASD in social attention, and to explore the possible role of the amygdala, we employed a series of visual search tasks with both social (faces and people with different postures, emotions, ages, and genders) and non-social stimuli (e.g., electronics, food, and utensils). We first conducted trial-wise analyses of fixation properties and elucidated visual search mechanisms. We found that an attentional mechanism of initial orientation could explain the detection advantage of non-social targets. We then zoomed into fixation-wise analyses. We defined target-relevant effects as the difference in the percentage of fixations that fell on target-congruent vs. target-incongruent items in the array. In Experiment 1, we tested 8 high-functioning adults with ASD, 3 adults with focal bilateral amygdala lesions, and 19 controls. Controls rapidly oriented to target-congruent items and showed a strong and sustained preference for fixating them. Strikingly, people with ASD oriented significantly less and more slowly to target-congruent items, an attentional deficit especially with social targets. By contrast, patients with amygdala lesions performed indistinguishably from controls. In Experiment 2, we recruited a different sample of 13 people with ASD and 8 healthy controls, and tested them on the same search arrays but with all array items equalized for low-level saliency. The results replicated those of Experiment 1. In Experiment 3, we recruited 13 people with ASD, 8 healthy controls, 3 amygdala lesion patients and another group of 11 controls and tested them on a simpler array. Here our group effect for ASD strongly diminished and all four subject groups showed similar target-relevant effects. These findings argue for an attentional deficit in ASD that is disproportionate for social stimuli, cannot be explained by low-level visual properties of the stimuli, and is more severe with high-load top-down task demands. Furthermore, this deficit appears to be independent of the amygdala, and not evident from general social bias independent of the target-directed search. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wang, Shuo; Adolphs, Ralph] CALTECH, Pasadena, CA 91125 USA.
[Xu, Juan; Jiang, Ming; Zhao, Qi] Natl Univ Singapore, Dept Elect & Comp Engn, Singapore 117583, Singapore.
[Hurlemann, Rene] Univ Bonn, Dept Psychiat, D-53105 Bonn, Germany.
RP Wang, S (reprint author), 114-96,1200 E Calif Blvd, Pasadena, CA 91125 USA.
EM wangshuo45@gmail.com
FU R01 Grant from NIMH; NIMH Conte Center; Singapore Ministry of Education
Academic Research Fund Tier 1 [R-263-000-A49-112]
FX We thank Jed Elison and Noah Sasson for providing the original stimuli,
Ty Basinger for creating some of the stimuli, Lynn Paul for
psychological assessments, and Mike Tyszka for providing the anatomical
scans of the amygdala lesion patients. This research was supported in
part by an R01 Grant from NIMH, an NIMH Conte Center, and the Singapore
Ministry of Education Academic Research Fund Tier 1 (No.
R-263-000-A49-112). 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 102
TC 0
Z9 0
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 OCT
PY 2014
VL 63
BP 259
EP 274
DI 10.1016/j.neuropsychologia.2014.09.002
PG 16
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AU7ZQ
UT WOS:000345817100028
PM 25218953
ER
PT J
AU Samuels, J
Grados, MA
Riddle, MA
Bienvenu, OJ
Goes, FS
Cullen, B
Wang, Y
Greenberg, BD
Fyer, AJ
McCracken, JT
Geller, D
Murphy, DL
Knowles, JA
Rasmussen, SA
McLaughlin, NC
Piacentini, J
Pauls, DL
Stewart, SE
Shugart, YY
Maher, B
Pulver, AE
Nestadt, G
AF Samuels, Jack
Grados, Marco A.
Riddle, Mark A.
Bienvenu, O. Joseph
Goes, Fernando S.
Cullen, Bernadette
Wang, Ying
Greenberg, Benjamin D.
Fyer, Abby J.
McCracken, James T.
Geller, Dan
Murphy, Dennis L.
Knowles, James A.
Rasmussen, Steven A.
McLaughlin, Nicole C.
Piacentini, John
Pauls, David L.
Stewart, S. Evelyn
Shugart, Yin-Yao
Maher, Brion
Pulver, Ann E.
Nestadt, Gerald
TI Hoarding in children and adolescents with obsessive-compulsive disorder
SO JOURNAL OF OBSESSIVE-COMPULSIVE AND RELATED DISORDERS
LA English
DT Article
DE OCD; Children; Adolescents; Hoarding; Social reciprocity; Indecision
ID OCD COLLABORATIVE GENETICS; FACTOR-ANALYZED SYMPTOM; YOUNG-CHILDREN;
LIFE EVENTS; BEHAVIOR; DIMENSIONS; AUTISM; INDIVIDUALS; SAMPLE;
SCHIZOPHRENIA
AB Compared to studies in adults, there have been few studies of hoarding in children and adolescents with obsessive-compulsive disorder (OCD). In the current study, we evaluated OCD clinical features, Axis I disorders, and social reciprocity scores in 641 children and adolescents with OCD, of whom 163 (25%) had hoarding compulsions and 478 did not. We found that, as a group, youth with hoarding had an earlier age at onset and more severe lifetime OCD symptoms, poorer insight, more difficulty making decisions and completing tasks, and more overall impairment. The hoarding group also had a greater lifetime prevalence of panic disorder, specific phobia, burette disorder, and tics. As measured with the Social Reciprocity Scale, the hoarding group had more severe deficits in parent-rated domains of social communication, social motivation, and restricted interests and repetitive behavior. In a multivariable model, the overall social reciprocity score, age at onset of OCD symptoms, symmetry obsessions, and indecision were independently related to hoarding in these children and adolescents with OCD. These features should be considered as candidate risk factors for the development of hoarding behavior in pediatric OCD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Samuels, Jack; Grados, Marco A.; Riddle, Mark A.; Bienvenu, O. Joseph; Goes, Fernando S.; Cullen, Bernadette; Wang, Ying; Pulver, Ann E.; Nestadt, Gerald] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Greenberg, Benjamin D.; Rasmussen, Steven A.; McLaughlin, Nicole C.] Butler Hosp, Brown Med Sch, Dept Psychiat & Behav Sci, Providence, RI 02906 USA.
[Fyer, Abby J.] Columbia Univ Coll Phys & Surg, Dept Psychiat, New York, NY 10032 USA.
[Fyer, Abby J.] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
[McCracken, James T.; Piacentini, John] Univ Calif Los Angeles, Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA.
[Geller, Dan] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA.
[Murphy, Dennis L.] NIMH, Clin Sci Lab, NIH, Bethesda, MD 20892 USA.
[McCracken, James T.] Univ So Calif, Sch Med, Dept Psychiat, Los Angeles, CA USA.
[Murphy, Dennis L.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Pauls, David L.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Pauls, David L.] Harvard Univ, Sch Med, Boston, MA USA.
[Stewart, S. Evelyn] Univ British Columbia, Dept Psychiat, Fac Med, Vancouver, BC, Canada.
[Shugart, Yin-Yao] NIMH, Unit Stat Genom, Div Intramural Res, Bethesda, MD 20892 USA.
[Maher, Brion] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA.
RP Samuels, J (reprint author), Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
EM jacks@jhmi.edu
FU National Institutes of Health [MH50214, MH071507, MH79487, MH079488,
MH079489, MH07 9494, K23-MH-64543, NIH/NCRR/OPD-GCRC RR00052]; James E.
Marshall OCD Foundation
FX This work was supported by National Institutes of Health grants MH50214,
MH071507, MH79487, MH079488, MH079489, MH07 9494, K23-MH-64543,
NIH/NCRR/OPD-GCRC RR00052, and by the James E. Marshall OCD Foundation.
The National Institutes of Health and the James E. Marshall OCD
Foundation had no role in the study design, collection, data analysis
and interpretation, or writing the manuscript.
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NR 63
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 2211-3649
J9 J OBSESS-COMPULS REL
JI J. Obsessive-Compuls. Relat. Disord.
PD OCT
PY 2014
VL 3
IS 4
BP 325
EP 331
DI 10.1016/j.jocrd.2014.08.001
PG 7
WC Psychiatry
SC Psychiatry
GA AU4TN
UT WOS:000345604400004
ER
PT J
AU Tonkin, BL
Ogilvie, BD
Greenwood, SA
Law, MC
Anaby, DR
AF Tonkin, Brenna L.
Ogilvie, Briana D.
Greenwood, Sarah A.
Law, Mary C.
Anaby, Dana R.
TI The participation of children and youth with disabilities in activities
outside of school: A scoping review
SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE
LA English
DT Article
DE Child development; Developmental disabilities; Leisure activities;
Occupation; Participation
ID ACQUIRED BRAIN-INJURY; CEREBRAL-PALSY PARTICIPATE; TYPICALLY DEVELOPING
PEERS; AUTISM SPECTRUM DISORDER; PHYSICAL-DISABILITIES; LEISURE
ACTIVITIES; SOCIAL-PARTICIPATION; AGED CHILDREN; IN-HOME; PATTERNS
AB Background. Participation in occupations is vital for learning and development. Children with disabilities are at risk for decreased participation. Purpose. The purpose of this study is to examine peer-reviewed literature about the participation-based experiences of children and youth with disabilities in activities outside of formal preschool and school academics. Method. A scoping review was conducted to examine research studies published between 1990 and 2012. Studies included participants from 2 to 18 years who had at least one physical or intellectual/cognitive disability. Findings. Forty-nine articles discussing 32 studies and three systematic reviews met the inclusion criteria. Perceptions of and influences on participation were important emerging themes about direct impacts on patterns of participation. A child or youth's level of functioning, activity level, level of enjoyment, and contextual factors were found to influence their level of successful participation. Implications. Occupational therapists can use the findings from this review to consider supports and barriers within interventions to enhance participation in meaningful life situations.
C1 [Tonkin, Brenna L.] Canadore Coll, OTA PTA Program, North Bay, ON P1B 8K9, Canada.
[Ogilvie, Briana D.] Lake Woods Dist Hosp, Kenora, ON, Canada.
[Greenwood, Sarah A.] North Bay Reg Hlth Ctr, Law & Mental Hlth Program, North Bay, ON, Canada.
[Law, Mary C.] McMaster Univ, Sch Rehabil Sci, Hamilton, ON, Canada.
[Law, Mary C.] McMaster Univ, CanChild Ctr Childhood Disabil Res, Hamilton, ON, Canada.
[Anaby, Dana R.] McGill Univ, Sch Phys & Occupat Therapy, Montreal, PQ, Canada.
RP Tonkin, BL (reprint author), Canadore Coll, 100 Coll Dr,Box 5001, North Bay, ON P1B 8K9, Canada.
EM Brenna.Tonkin@canadorecollege.ca
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NR 73
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0008-4174
EI 1911-9828
J9 CAN J OCCUP THER
JI Can. J. Occup. Ther.
PD OCT
PY 2014
VL 81
IS 4
BP 226
EP 236
DI 10.1177/0008417414550998
PG 11
WC Rehabilitation
SC Rehabilitation
GA AT8QS
UT WOS:000345197900006
ER
PT J
AU Dalrymple, KA
Garrido, L
Duchaine, B
AF Dalrymple, Kirsten A.
Garrido, Lucia
Duchaine, Brad
TI Dissociation between face perception and face memory in adults, but not
children, with developmental prosopagnosia
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Children; Development; Developmental prosopagnosia; Face memory; Face
perception; Face recognition
ID CONGENITAL PROSOPAGNOSIA; ACQUIRED PROSOPAGNOSIA; IDENTITY RECOGNITION;
TEST SCORE; AGNOSIA; NEUROPSYCHOLOGY; INDIVIDUALS; IMPAIRMENT; CHILDHOOD
AB Cognitive models propose that face recognition is accomplished through a series of discrete stages, including perceptual representation of facial structure, and encoding and retrieval of facial information. This implies that impaired face recognition can result from failures of face perception, face memory, or both. Studies of acquired prosopagnosia, autism spectrum disorders, and the development of normal face recognition support the idea that face perception and face memory are distinct processes, yet this distinction has received little attention in developmental prosopagnosia (DP). To address this issue, we tested the face perception and face memory of children and adults with DP. By definition, face memory is impaired in DP, so memory deficits were present in all participants. However, we found that all children, but only half of the adults had impaired face perception. Thus, results from adults indicate that face perception and face memory are dissociable, while the results from children provide no evidence for this division. Importantly, our findings raise the possibility that DP is qualitatively different in childhood versus adulthood. We discuss theoretical explanations for this developmental pattern and conclude that longitudinal studies are necessary to better understand the developmental trajectory of face perception and face memory deficits in DP. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY license (lattp://creativecommons.org/licenses/by/3.0/).
C1 [Dalrymple, Kirsten A.] Univ Minnesota, Inst Child Dev, Minneapolis, MN 55455 USA.
[Garrido, Lucia] Brunel Univ, Dept Psychol, London, England.
[Duchaine, Brad] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
RP Dalrymple, KA (reprint author), Univ Minnesota, Inst Child Dev, 51 East River Pkwy, Minneapolis, MN 55455 USA.
EM kad@umn.edu
FU Economic and Social Research Council (ESRC) [RES-062-23-2426]
FX KAD was supported by an Economic and Social Research Council (ESRC)
grant awarded to BD (grant number RES-062-23-2426). We thank Joe DeGutis
for his feedback on our findings and Zachary Potter for his technical
assistance. We also thank the adult and child participants and their
families for their involvement in this study.
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NR 57
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 10
EP 20
DI 10.1016/j.dcn.2014.07.003
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200002
PM 25160676
ER
PT J
AU Jack, A
Morris, JP
AF Jack, Allison
Morris, James P.
TI Neocerebellar contributions to social perception in adolescents with
autism spectrum disorder
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorders; Cerebellum; Imitation; Effective
connectivity; Mentalizing; Superior temporal sulcus
ID SUPERIOR TEMPORAL SULCUS; MIRROR NEURON SYSTEM; FUNCTIONAL CONNECTIVITY;
BIOLOGICAL-MOTION; PSYCHOPHYSIOLOGICAL INTERACTIONS; CEREBELLAR CORTEX;
ALE METAANALYSIS; BRAIN MECHANISMS; BROCAS AREA; MOTOR TASK
AB Posterior superior temporal sulcus (pSTS) is specialized for interpreting perceived human actions, and disruptions to its function occur in autism spectrum disorder (ASD). Here we consider the role of Crus I of neocerebellum in supporting pSTS function. Research has associated Crus I activity with imitation and biological motion perception, and neocerebellum is theorized to coordinate activity among cerebral sites more generally. Moreover, cerebellar abnormalities have been associated with ASD. We hypothesized that disordered Crus I-pSTS interactions could predict social deficits in ASD. 15 high functioning adolescents with ASD and 15 same-age comparison youth participated in an fMRI imitation paradigm; ratings of mentalizing ability were collected via parent report. We predicted that stronger Crus I-pSTS interactions would be associated with better mentalizing ability. Consistent with these hypotheses, stronger psychophysiological interactions between Crus I and right pSTS were associated with greater mentalizing ability among adolescents with ASD. Wholebrain analyses also indicated that typically developing youth recruited right inferior frontal gyrus, left pSTS, medial occipital regions, and precuneus more strongly during imitation than did youth with ASD. Overall, these results indicate that variability in neocerebellar interactions with key cortical social brain sites may help explain individual differences in social perceptual outcomes in ASD. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Jack, Allison; Morris, James P.] Univ Virginia, Dept Psychol, Charlottesville, VA 22903 USA.
RP Jack, A (reprint author), Yale Child Study Ctr, 230 South Frontage Rd, New Haven, CT 06519 USA.
EM allison.jack@yale.edu
FU National Institute of Mental Health [R00-MH079617]; University of
Virginia; National Center for Research Resources [S10 RR019895, S10
RR029676-01]
FX This work was supported by a Pathway to Independence Grant from the
National Institute of Mental Health (R00-MH079617 to J.P.M.) and by
research funds from the University of Virginia. A portion of the
neuroimaging analysis was conducted through the Yale University
Biomedical High Performance Computing Center, which is supported by
Biomedical Research Support Shared Instrumentation Grants from the
National Center for Research Resources (S10 RR019895 and S10
RR029676-01). The funding sources had no involvement in study design;
collection, analysis and interpretation of data; in the writing of the
report; or in the decision to submit the article for publication.
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NR 99
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 77
EP 92
DI 10.1016/j.dcn.2014.08.001
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200007
PM 25170555
ER
PT J
AU Kohls, G
Thonessen, H
Bartley, GK
Grossheinrich, N
Fink, GR
Herpertz-Dahlmann, B
Konrad, K
AF Kohls, Gregor
Thoenessen, Heike
Bartley, Gregory K.
Grossheinrich, Nicola
Fink, Gereon R.
Herpertz-Dahlmann, Beate
Konrad, Kerstin
TI Differentiating neural reward responsiveness in autism versus ADHD
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; ADHD; Social reward; Monetary reward; Ventral
striatum; Medial prefrontal cortex
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; SPECTRUM DISORDERS; MONETARY REWARD; SOCIAL REWARD; SUSTAINED
ATTENTION; RESPONSE-INHIBITION; CONDUCT DISORDER; HUMAN BRAIN; CHILDREN
AB Although attention deficit hyperactivity disorders (ADHD) and autism spectrum disorders (ASD) share certain neurocognitive characteristics, it has been hypothesized to differentiate the two disorders based on their brain's reward responsiveness to either social or monetary reward. Thus, the present fMRI study investigated neural activation in response to both reward types in age and IQ-matched boys with ADHD versus ASD relative to typically controls (TDC). A significant group by reward type interaction effect emerged in the ventral striatum with greater activation to monetary versus social reward only in TDC, whereas subjects with ADHD responded equally strong to both reward types, and subjects with ASD showed low striatal reactivity across both reward conditions. Moreover, disorderspecific neural abnormalities were revealed, including medial prefrontal hyperactivation in response to social reward in ADHD versus ventral striatal hypoactivation in response to monetary reward in ASD. Shared dysfunction was characterized by fronto-striato-parietal hypoactivation in both clinical groups when money was at stake. Interestingly, lower neural activation within parietal circuitry was associated with higher autistic traits across the entire study sample. In sum, the present findings concur with the assumption that both ASD and ADHD display distinct and shared neural dysfunction in response to reward. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Kohls, Gregor; Thoenessen, Heike; Grossheinrich, Nicola; Konrad, Kerstin] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, Child Neuropsychol Sect, D-52074 Aachen, Germany.
[Kohls, Gregor; Fink, Gereon R.; Konrad, Kerstin] Res Ctr, Inst Neurosci & Med, Cognit Neurol Sect, Julich, Germany.
[Bartley, Gregory K.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Fink, Gereon R.] Univ Hosp Cologne, Dept Neurol, Cologne, Germany.
[Herpertz-Dahlmann, Beate; Konrad, Kerstin] Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, D-52074 Aachen, Germany.
RP Kohls, G (reprint author), Rhein Westfal TH Aachen, Dept Child & Adolescent Psychiat, Neuenhofer Weg 21, D-52074 Aachen, Germany.
EM gkohis@ukaachen.de
RI Fink, Gereon/E-1616-2012; Konrad, Kerstin/H-7747-2013
OI Fink, Gereon/0000-0002-8230-1856; Konrad, Kerstin/0000-0001-9039-2615
FU German Research Foundation (Deutsche Forschungsgemeinschaft) [IRTG 1328]
FX This study was supported by the German Research Foundation (Deutsche
Forschungsgemeinschaft, IRTG 1328). We would like to thank all young
volunteers and their families who participated in this study. We are
also grateful to two anonymous reviewers for their helpful comments on
an earlier version of the manuscript.
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NR 84
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 104
EP 116
DI 10.1016/j.dcn/2014.08.003
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200009
PM 25190643
ER
PT J
AU Pitskel, NB
Bolling, DZ
Kaiser, MD
Pelphrey, KA
Crowley, MJ
AF Pitskel, Naomi B.
Bolling, Danielle Z.
Kaiser, Martha D.
Pelphrey, Kevin A.
Crowley, Michael J.
TI Neural systems for cognitive reappraisal in children and adolescents
with autism spectrum disorder
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Children and adolescents; Emotion regulation;
Cognitive reappraisal; Functional magnetic resonance imaging; Amygdala
ID HIGH-FUNCTIONING AUTISM; EMOTION REGULATION; BEHAVIORAL THERAPY;
NEGATIVE EMOTION; DISGUST SENSITIVITY; HUMAN BRAIN; VOLUNTARY
SUPPRESSION; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; DOWN-REGULATION
AB Despite substantial clinical and anecdotal evidence for emotion dysregulation in individuals with autism spectrum disorder (ASD), little is known about the neural substrates underlying this phenomenon. We sought to explore neural mechanisms for cognitive reappraisal in children and adolescents with ASD using functional magnetic resonance imaging (fMRI). We studied 16 youth with ASD and 15 age- and IQ-matched typically developing (TD) comparison youth. Participants were instructed in the use of cognitive reappraisal strategies to increase and decrease their emotional responses to disgusting images. Participants in both groups displayed distinct patterns of brain activity for increasing versus decreasing their emotions. TD participants showed downregulation of bilateral insula and left amygdala on decrease trials, whereas ASD participants showed no modulation of insula and upregulation of left amygdala. Furthermore, TD youth exhibited increased functional connectivity between amygdala and ventrolateral prefrontal cortex compared to ASD participants when downregulating disgust, as well as decreased functional connectivity between amygdala and orbitofrontal cortex. These findings have important implications for our understanding of emotion dysregulation and its treatment in ASD. In particular, the relative lack of prefrontalamygdala connectivity provides a potential target for treatment-related outcome measurements. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
C1 [Pitskel, Naomi B.; Bolling, Danielle Z.; Kaiser, Martha D.; Pelphrey, Kevin A.; Crowley, Michael J.] Yale Univ, Sch Med, Yale Child Study Ctr, Yale Ctr Translat Dev Neurosci, New Haven, CT 06510 USA.
RP Pitskel, NB (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, Yale Ctr Translat Dev Neurosci, 230 South Frontage Rd, New Haven, CT 06510 USA.
EM Naomi.Pliskel@yale.edu; Michael.Crowley@yale.edu
FU National Institute of Mental Health [MH071284, K01DA034125]; John Merck
Scholars Fund; Simons Foundation; Harris Professorship; Doris Duke
Charitable Foundation
FX This work was supported by grants from the National Institute of Mental
Health [grant number MH071284 to K.A.P.; K01DA034125 to M.J.C.]; the
John Merck Scholars Fund; the Simons Foundation [Individual Grant:
Longitudinal Neurogenetics of Atypical Social Brain Development in
Autism]; a Harris Professorship to K.A.P, and the Doris Duke Charitable
Foundation [to Yale University to support N.B.P.].
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NR 100
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 117
EP 128
DI 10.1016/j.dcn.2014.08.007
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200010
PM 25198094
ER
PT J
AU Cheng, YW
Chen, CY
Decety, J
AF Cheng, Yawei
Chen, Chenyi
Decety, Jean
TI An EEG/ERP investigation of the development of empathy in early and
middle childhood
SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE
LA English
DT Article
DE Childhood; Development; Empathy; EEG; ERP; Mu suppression
ID AUTISM SPECTRUM DISORDERS; ELECTROCORTICAL REACTIVITY; UNDERLYING
EMPATHY; EMOTION REGULATION; MORAL SENSITIVITY; BRAIN RESPONSES;
YOUNG-CHILDREN; PAIN; OTHERS; ADOLESCENCE
AB Empathic arousal is the first ontogenetic building block of empathy to appear during infancy and early childhood. As development progresses, empathic arousal becomes associated with an increasing ability to differentiate between self and other, which is a critical aspect of mature empathetic ability (Decety and Jackson, 2004). This allows for better regulation of contagious distress and understanding others mental states. In the current study, we recorded electroencephalographic event-related potentials and mu suppression induced by short visual animations that depicted painful situations in 57 typically developing children aged between 3 and 9 years as well as 15 young adults. Results indicate that the difference wave of an early automatic component (N200), indexing empathic arousal, showed an agerelated decrease in amplitude. In contrast, the difference wave of late-positive potentials (LPP), associated with cognitive appraisal, showed an age-related gain. Only early LPP was detected in children, whereas both early and late LPP were observed in adults. Furthermore, as compared with adults, children showed stronger mu suppression when viewing both painful and non-painful stimuli. These findings provide neurophysiological support for the development of empathy during childhood, as indicated by a gradual decrease in emotional arousal and an increase in cognitive appraisal with age. (C) 2014 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://ceativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Cheng, Yawei; Chen, Chenyi] Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan.
[Cheng, Yawei; Chen, Chenyi] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan.
[Cheng, Yawei] Natl Yang Ming Univ, Dept Rehabil, Yilan, Taiwan.
[Decety, Jean] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA.
[Decety, Jean] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA.
RP Cheng, YW (reprint author), Natl Yang Ming Univ, Inst Neurosci, 155 Sec 2,St Linong, Taipei 112, Taiwan.
EM ywcheng2@ym.edu.tw
FU Ministry of Science and Technology [MOST 103-2401-H-010-003-MY3];
National Yang-Ming University Hospital [RD2014-003]; Health Department
of Taipei City Government [10301-62-009]; Ministry of Education (Aim for
the Top University Plan) [103AC-B4]; John Templeton Foundation (The
Science of Philanthropy Initiative); John Templeton Foundation (Wisdom
Research at the University of Chicago)
FX We would like to thank Chia-Chen Li for helping the data collection.
Jason M. Cowell and Keith Yoder provided helpful comments on the
manuscript. The study was funded by the Ministry of Science and
Technology (MOST 103-2401-H-010-003-MY3), National Yang-Ming University
Hospital (RD2014-003), Health Department of Taipei City Government
(10301-62-009), and Ministry of Education (Aim for the Top University
Plan) (103AC-B4). Dr. Jean Decety was supported by grants from the John
Templeton Foundation (The Science of Philanthropy Initiative and Wisdom
Research at the University of Chicago).
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NR 84
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1878-9293
EI 1878-9307
J9 DEV COGN NEUROS-NETH
JI Dev. Cogn. Neurosci.
PD OCT
PY 2014
VL 10
BP 160
EP 169
DI 10.1016/j.dcn.2014.08.012
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AT4XA
UT WOS:000344944200014
PM 25261920
ER
PT J
AU Lagunju, IA
Bella-Awusah, TT
Omigbodun, OO
AF Lagunju, I. A.
Bella-Awusah, T. T.
Omigbodun, O. O.
TI Autistic disorder in Nigeria: Profile and challenges to management
SO EPILEPSY & BEHAVIOR
LA English
DT Article
DE Autistic; disorder; Children; Nigeria; Comorbidities; Epilepsy
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; PREVALENCE;
CHILDREN; EPILEPSY; DISABILITY; DIAGNOSIS; INCREASE; SWEDEN; SCREEN
AB Autism represents one of the most common developmental disorders affecting children, but there are few reports on autism in African children. Our study describes the profile of autistic disorder in a cohort of Nigerian children and appraises short-term outcomes. Children seen at the pediatric neurology and the child psychiatry clinic of the University College Hospital, Nigeria were screened for autistic disorder using the American Psychiatric Association's Diagnostic and Statistical Manual IV. Forty-five males and 9 females were identified with autism, and the disease accounted for 2.3% of 2320 new cases seen during the period. The mean age at which parents observed deviations in behavior was 22.5 (SD = 6.6) months, while the mean age at diagnosis was 44.7 (SD = 21.2) months. Twelve (22.6%) children had a positive family history of autism, and forty (75.5%) had associated neurological comorbidities. Diagnosis of autismis often delayed in Nigeria, and affected children have a high frequency of neurological comorbidities. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Lagunju, I. A.] Univ Ibadan, Coll Med, Dept Paediat, Ibadan, Nigeria.
[Bella-Awusah, T. T.; Omigbodun, O. O.] Univ Ibadan, Coll Med, Dept Child & Adolescent Psychiat, Ibadan, Nigeria.
[Lagunju, I. A.] Univ Coll Hosp, Dept Paediat, Ibadan, Nigeria.
[Bella-Awusah, T. T.; Omigbodun, O. O.] Univ Coll Hosp, Dept Child & Adolescent Psychiat, Ibadan, Nigeria.
RP Lagunju, IA (reprint author), Univ Coll Hosp, Dept Paediat, Ibadan, Nigeria.
EM ilagunju@yahoo.co.uk
FU resident doctors in the Paediatric Neurology Unit; Department of Child
and Adolescent Psychiatry, University College Hospital
FX The authors acknowledge the support of the resident doctors in the
Paediatric Neurology Unit and the Department of Child and Adolescent
Psychiatry, University College Hospital. The efforts of Mr. Olukolade,
clinical psychologist, are acknowledged.
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NR 32
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1525-5050
EI 1525-5069
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD OCT
PY 2014
VL 39
BP 126
EP 129
DI 10.1016/j.yebeh.2014.08.020
PG 4
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA AT9FM
UT WOS:000345233400024
PM 25240124
ER
PT J
AU Goldman, D
Domschke, K
AF Goldman, D.
Domschke, K.
TI Making sense of deep sequencing
SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE ChipSeq; exome; methylome; next-generation sequencing; RNASeq
ID AUTISM SPECTRUM DISORDERS; GENETIC-VARIATION; NOVO MUTATIONS;
SCHIZOPHRENIA; GENOME
AB This review, the first of an occasional series, tries to make sense of the concepts and uses of deep sequencing of polynucleic acids (DNA and RNA). Deep sequencing, synonymous with next-generation sequencing, high-throughput sequencing and massively parallel sequencing, includes whole genome sequencing but is more often and diversely applied to specific parts of the genome captured in different ways, for example the highly expressed portion of the genome known as the exome and portions of the genome that are epigenetically marked either by DNA methylation, the binding of proteins including histones, or that are in different configurations and thus more or less accessible to enzymes that cleave DNA. Deep sequencing of RNA (RNASeq) reverse-transcribed to complementary DNA is invaluable for measuring RNA expression and detecting changes in RNA structure. Important concepts in deep sequencing include the length and depth of sequence reads, mapping and assembly of reads, sequencing error, haplotypes, and the propensity of deep sequencing, as with other types of 'big data', to generate large numbers of errors, requiring monitoring for methodologic biases and strategies for replication and validation. Deep sequencing yields a unique genetic fingerprint that can be used to identify a person, and a trove of predictors of genetic medical diseases. Deep sequencing to identify epigenetic events including changes in DNA methylation and RNA expression can reveal the history and impact of environmental exposures. Because of the power of sequencing to identify and deliver biomedically significant information about a person and their blood relatives, it creates ethical dilemmas and practical challenges in research and clinical care, for example the decision and procedures to report incidental findings that will increasingly and frequently be discovered.
C1 [Goldman, D.] NIAAA, Neurogenet Lab, NIH, Rockville, MD 20852 USA.
[Domschke, K.] Univ Wurzburg, Dept Psychiat, D-97080 Wurzburg, Germany.
RP Domschke, K (reprint author), Univ Wurzburg, Dept Psychiat, Fuechsleinstr 15, D-97080 Wurzburg, Germany.
EM Domschke_K@ukw.de
FU Deutsche Forschungsgemeinschaft (DFG) [SFB-TRR-58]
FX The present work was supported by the Deutsche Forschungsgemeinschaft
(DFG), SFB-TRR-58, project C02 (to KD).
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NR 20
TC 3
Z9 3
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 1461-1457
EI 1469-5111
J9 INT J NEUROPSYCHOPH
JI Int. J. Neuropsychopharmacol.
PD OCT
PY 2014
VL 17
IS 10
BP 1717
EP 1725
DI 10.1017/S1461145714000789
PG 9
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AT5TL
UT WOS:000345004900019
PM 24925306
ER
PT J
AU Sakuta, Y
Sato, K
Kanazawa, S
Yamaguchi, MK
AF Sakuta, Yuiko
Sato, Kazuki
Kanazawa, So
Yamaguchi, Masami K.
TI The effect of eye size on discriminating faces: Can infants recognize
facial uncanniness?
SO JAPANESE PSYCHOLOGICAL RESEARCH
LA English
DT Article
DE face recognition; familiarization-novelty preference; perceptual
narrowing; uncanny valley
ID ASPERGER-SYNDROME; NORMAL ADULTS; ADAPTATION; AUTISM; ATTRACTIVENESS;
LOOKING; BEAUTY; GAZE; MIND
AB Infants' ability to recognize uncanny human faces increases during the first year of life. In turn, their ability to recognize faces of other species declines at almost the same period (perceptual narrowing). In the current study, we aimed to clarify the relationship between the perception of uncanniness of faces and perceptual narrowing in infants and adults. We used the "uncanny valley task," in which the participants were required to discriminate the faces of humans and monkeys by different eye size. Results showed that 3- to 5-month-old infants could not discriminate either monkey or human faces by eye size, whereas 6- to 8-month olds could. Adults showed higher discrimination performance for human than monkey faces and perceived the human faces with extremely large or small eyes as exceedingly eerie. Our results suggest that perception of uncanniness of faces is formed after perceptual narrowing.
C1 [Sakuta, Yuiko; Sato, Kazuki; Yamaguchi, Masami K.] Chuo Univ, Higashi Nakano, Hachiouji 1920393, Japan.
[Kanazawa, So] Japan Womens Univ, Tokyo, Japan.
RP Sakuta, Y (reprint author), Chuo Univ, Dept Psychol, Higashi Nakano, Hachiouji 1920393, Japan.
EM y-sakuta@tamacc.chuo-u.ac.jp
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NR 21
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-5368
EI 1468-5884
J9 JPN PSYCHOL RES
JI Jpn. Psychol. Res.
PD OCT
PY 2014
VL 56
IS 4
BP 331
EP 339
DI 10.1111/jpr.12057
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AT9OP
UT WOS:000345256700004
ER
PT J
AU Caracciolo, M
AF Caracciolo, Marco
TI Two child narrators: Defamiliarization, empathy, and reader-response in
Mark Haddon's The Curious Incident and Emma Donoghue's Room
SO SEMIOTICA
LA English
DT Article
DE narrative; empathy; identification; defamiliarization; autism; humor
ID HUMOR; MINDS
AB Drawing on a corpus of online reviews, my article carries out a qualitative study of readers' responses to the child narrators of two contemporary - novels, Mark Haddon's The Curious Incident of the Dog in the Night-Time (2003) and Emma Donoghue's Room (2010). What these narrators have in common is that they are both are affected by developmental disorders: Christopher, the protagonist of The Curious Incident, is on the autistic spectrum, whereas Jack - the five-year-old narrator of Room - was born and brought up in captivity. Through my analysis of the reviews I explore the interplay of defamiliarization and empathy in readers' engagement with these "strange" narrators; I also show how empathetic perspective-taking can work in tandem with sympathy (feeling for a character from an observer position).
C1 Univ Groningen, NL-9700 AB Groningen, Netherlands.
RP Caracciolo, M (reprint author), Univ Groningen, NL-9700 AB Groningen, Netherlands.
EM m.caracciolo@rug.nl
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NR 55
TC 0
Z9 0
PU WALTER DE GRUYTER GMBH
PI BERLIN
PA GENTHINER STRASSE 13, D-10785 BERLIN, GERMANY
SN 0037-1998
EI 1613-3692
J9 SEMIOTICA
JI Semiotica
PD OCT
PY 2014
VL 202
BP 183
EP 205
DI 10.1515/sem-2014-0050
PG 23
WC Humanities, Multidisciplinary
SC Arts & Humanities - Other Topics
GA AT8GN
UT WOS:000345172000008
ER
PT J
AU de Villiers, JG
de Villiers, PA
AF de Villiers, Jill G.
de Villiers, Peter A.
TI The Role of Language in Theory of Mind Development
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE conversation; false beliefs; false complements; language; narrative;
theory of mind
ID FALSE-BELIEF; JOINT ATTENTION; SPEAKING CHILDREN; 2ND-ORDER BELIEFS;
THOUGHT-BUBBLES; EXPLICIT THEORY; DEAF-CHILDREN; MENTAL STATES; AUTISM;
IMPLICIT
AB Various arguments are reviewed about the claim that language development is critically connected to the development of theory of mind. The different theories of how language could help in this process of development are explored. A brief account is provided of the controversy over the capacities of infants to read others' false beliefs. Then the empirical literature on the steps in theory of mind development is summarized, considering studies on both typically developing and various language-delayed children. Suggestions are made for intervention by speech language pathologists to enhance the child's access to understanding the minds of others.
C1 [de Villiers, Jill G.; de Villiers, Peter A.] Smith Coll, Northampton, MA 01063 USA.
RP de Villiers, JG (reprint author), Smith Coll, Coll Lane, Northampton, MA 01063 USA.
EM jdevilli@smith.edu
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NR 91
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 313
EP 328
DI 10.1097/TLD.0000000000000037
PG 16
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900005
ER
PT J
AU Kimhi, Y
AF Kimhi, Yael
TI Theory of Mind Abilities and Deficits in Autism Spectrum Disorders
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE ASD; executive function; intervention; social cognition; theory of mind
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; EXECUTIVE FUNCTION;
INDIVIDUAL-DIFFERENCES; DEVELOPING-CHILDREN; TYPICAL DEVELOPMENT;
PERSPECTIVE-TAKING; CENTRAL COHERENCE; ADULTS; LANGUAGE
AB Autism spectrum disorder (ASD) is a neurobiological disorder that significantly impairs children's social interaction, verbal and nonverbal communication, and behaviors. Questions about theory of mind (ToM) deficits in ASD have generated a large number of empirical studies. This article reviews current studies of the relationship between ToM and ASD, including contributions to the understanding of social and academic manifestations of ASD. Several themes emerge: Enhanced language and verbal abilities facilitate better ToM understanding; implicit ToM elements that incorporate parallel processing pose more difficulties than explicit ones; and general and multimodal interventions are more effective than specific interventions. A brief overview is followed by a review of emerging research on the role of domain-general cognitive skills (executive function) and central coherence in the development of ToM. Next, a summary of studies addressing ToM across the development and social and academic manifestations is presented. The article ends with a critical review of ToM intervention studies, which suggests that generalization may be more likely to occur when ToM is targeted as part of broader sociocognitive interventions rather than as an isolated skill.
C1 [Kimhi, Yael] Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
[Kimhi, Yael] Levinsky Coll Educ, Tel Aviv, Israel.
RP Kimhi, Y (reprint author), Bar Ilan Univ, Sch Educ, IL-52900 Ramat Gan, Israel.
EM yael.kimhi@biu.ac.il
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NR 75
TC 4
Z9 4
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 329
EP 343
DI 10.1097/TLD.0000000000000033
PG 15
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900006
ER
PT J
AU Westby, C
Robinson, L
AF Westby, Carol
Robinson, Lee
TI A Developmental Perspective for Promoting Theory of Mind
SO TOPICS IN LANGUAGE DISORDERS
LA English
DT Article
DE intersubjectivity; intervention; joint attention; mental state
vocabulary; metacognition; self-regulation; sentential complements;
theory of mind
ID MOTHER-CHILD DISCOURSE; JOINT ATTENTION; AUTISM SPECTRUM;
AUTOBIOGRAPHICAL MEMORY; LANGUAGE IMPAIRMENT; TEACHING THEORY;
YOUNG-CHILDREN; PRETEND PLAY; EMPATHY; INTERVENTION
AB Social neuroscience research has resulted in changing views of the theory of mind (ToM) construct. Theory of mind is no longer viewed as a unitary construct, but rather as a multidimensional construct comprising cognitive and affective ToM and interpersonal and intrapersonal ToM, each of which has differing neurophysiological/neuroanatomical foundations and behavioral manifestations. Clinicians working with persons with social communication/pragmatic communication disorders should consider evaluating these dimensions of ToM and the cognitive, social-emotional, and language components underlying them. Then they might use this information to develop a ToM profile for each client so they are better able to implement specific intervention strategies to target the linguistic and cognitive/affective foundations for ToM development. In this article, we describe the characteristics of developmental stages of affective and cognitive and interpersonal and intrapersonal ToM and how to match intervention goals and strategies to those stages. Some activities and strategies have empirical support; others are based on what is known about typical development and patterns of impairment.
C1 [Westby, Carol] Bilingual Multicultural Serv, Albuquerque, NM USA.
[Westby, Carol; Robinson, Lee] Brigham Young Univ, Provo, UT 84602 USA.
RP Westby, C (reprint author), CCC SLP, 1808 Princeton NE, Albuquerque, NM 87106 USA.
EM carol_westby@att.net
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NR 80
TC 5
Z9 5
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0271-8294
EI 1550-3259
J9 TOP LANG DISORD
JI Top. Lang. Disord.
PD OCT-DEC
PY 2014
VL 34
IS 4
BP 362
EP 382
DI 10.1097/TLD.0000000000000035
PG 21
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AT6CZ
UT WOS:000345027900008
ER
PT J
AU Hamdan, FF
Srour, M
Capo-Chichi, JM
Daoud, H
Nassif, C
Patry, L
Massicotte, C
Ambalavanan, A
Spiegelman, D
Diallo, O
Henrion, E
Dionne-Laporte, A
Fougerat, A
Pshezhetsky, AV
Venkateswaran, S
Rouleau, GA
Michaud, JL
AF Hamdan, Fadi F.
Srour, Myriam
Capo-Chichi, Jose-Mario
Daoud, Hussein
Nassif, Christina
Patry, Lysanne
Massicotte, Christine
Ambalavanan, Amirthagowri
Spiegelman, Dan
Diallo, Ousmane
Henrion, Edouard
Dionne-Laporte, Alexandre
Fougerat, Anne
Pshezhetsky, Alexey V.
Venkateswaran, Sunita
Rouleau, Guy A.
Michaud, Jacques L.
TI De Novo Mutations in Moderate or Severe Intellectual Disability
SO PLOS GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; SCHINZEL-GIEDION SYNDROME; EARLY GENE ZIF268;
MENTAL-RETARDATION; EPILEPTIC ENCEPHALOPATHIES; CORPUS-CALLOSUM;
CANDIDATE GENES; ESCRT-III; PROTEIN; HAPLOINSUFFICIENCY
AB Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corresponding genes remain largely unknown. Here, we report a screen for DNMs in subjects with moderate or severe ID. We sequenced the exomes of 41 probands and their parents, and confirmed 81 DNMs affecting the coding sequence or consensus splice sites (1.98 DNMs/proband). We observed a significant excess of de novo single nucleotide substitutions and loss-of-function mutations in these cases compared to control subjects, suggesting that at least a subset of these variations are pathogenic. A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of similar to 29%. We also identified 12 possibly pathogenic DNMs in genes (HNRNPU, WAC, RYR2, SET, EGR1, MYH10, EIF2C1, COL4A3BP, CHMP2A, PPP1CB, VPS4A, PPP2R2B) that have not previously been causally linked to ID. Interestingly, no case was explained by inherited mutations. Protein network analysis indicated that the products of many of these known and candidate genes interact with each other or with products of other ID-associated genes further supporting their involvement in ID. We conclude that DNMs represent a major cause of moderate or severe ID.
C1 [Hamdan, Fadi F.; Srour, Myriam; Capo-Chichi, Jose-Mario; Nassif, Christina; Patry, Lysanne; Massicotte, Christine; Fougerat, Anne; Pshezhetsky, Alexey V.; Michaud, Jacques L.] CHU St Justine, Res Ctr, Montreal, PQ, Canada.
[Srour, Myriam] Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada.
[Daoud, Hussein; Ambalavanan, Amirthagowri; Spiegelman, Dan; Diallo, Ousmane; Henrion, Edouard; Dionne-Laporte, Alexandre; Rouleau, Guy A.] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada.
[Venkateswaran, Sunita] Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON K1H 8L1, Canada.
[Michaud, Jacques L.] Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada.
[Michaud, Jacques L.] Univ Montreal, Dept Neurosci, Montreal, PQ, Canada.
RP Hamdan, FF (reprint author), CHU St Justine, Res Ctr, Montreal, PQ, Canada.
EM jacques.michaud@recherche-ste-justine.qc.ca
FU Canadian Institutes of Health Research (CIHR); CIHR [FRN 119440]
FX JLM is a National Scientist of the Fonds de Recherche du Quebec - Sante.
MS holds a clinician-scientist award from the Canadian Institutes of
Health Research (CIHR). This study was funded by a grant from CIHR (FRN
119440). 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 62
TC 0
Z9 0
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 OCT
PY 2014
VL 10
IS 10
AR e1004772
DI 10.1371/journal.pgen.1004772
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AT0UR
UT WOS:000344650700106
PM 25356899
ER
PT J
AU Bowton, E
Saunders, C
Reddy, IA
Campbell, NG
Hamilton, PJ
Henry, LK
Coon, H
Sakrikar, D
Veenstra-VanderWeele, JM
Blakely, RD
Sutcliffe, J
Matthies, HJG
Erreger, K
Galli, A
AF Bowton, E.
Saunders, C.
Reddy, I. A.
Campbell, N. G.
Hamilton, P. J.
Henry, L. K.
Coon, H.
Sakrikar, D.
Veenstra-VanderWeele, J. M.
Blakely, R. D.
Sutcliffe, J.
Matthies, H. J. G.
Erreger, K.
Galli, A.
TI SLC6A3 coding variant Ala559Val found in two autism probands alters
dopamine transporter function and trafficking
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID PROTEIN-KINASE-C; DEFICIT HYPERACTIVITY DISORDER;
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DE-NOVO MUTATIONS; PERVASIVE
DEVELOPMENTAL DISORDER; INDUCED REVERSE TRANSPORT; COPY-NUMBER
VARIATION; SPECTRUM DISORDERS; DEPENDENT MECHANISM; XENOPUS OOCYTES
AB Emerging evidence associates dysfunction in the dopamine (DA) transporter (DAT) with the pathophysiology of autism spectrum disorder (ASD). The human DAT (hDAT; SLC6A3) rare variant with an Ala to Val substitution at amino acid 559 (hDAT A559V) was previously reported in individuals with bipolar disorder or attention-deficit hyperactivity disorder (ADHD). We have demonstrated that this variant is hyper-phosphorylated at the amino (N)-terminal serine (Ser) residues and promotes an anomalous DA efflux phenotype. Here, we report the novel identification of hDAT A559V in two unrelated ASD subjects and provide the first mechanistic description of its impaired trafficking phenotype. DAT surface expression is dynamically regulated by DAT substrates including the psychostimulant amphetamine (AMPH), which causes hDAT trafficking away from the plasma membrane. The integrity of DAT trafficking directly impacts DA transport capacity and therefore dopaminergic neurotransmission. Here, we show that hDAT A559V is resistant to AMPH-induced cell surface redistribution. This unique trafficking phenotype is conferred by altered protein kinase C beta (PKC beta) activity. Cells expressing hDAT A559V exhibit constitutively elevated PKC beta activity, inhibition of which restores the AMPH-induced hDAT A559V membrane redistribution. Mechanistically, we link the inability of hDAT A559V to traffic in response to AMPH to the phosphorylation of the five most distal DAT N-terminal Ser. Mutation of these N-terminal Ser to Ala restores AMPH-induced trafficking. Furthermore, hDAT A559V has a diminished ability to transport AMPH, and therefore lacks AMPH-induced DA efflux. Pharmacological inhibition of PKC beta or Ser to Ala substitution in the hDAT A559V background restores AMPH-induced DA efflux while promoting intracellular AMPH accumulation. Although hDAT A559V is a rare variant, it has been found in multiple probands with neuropsychiatric disorders associated with imbalances in DA neurotransmission, including ADHD, bipolar disorder, and now ASD. These findings provide valuable insight into a new cellular phenotype (altered hDAT trafficking) supporting dysregulated DA function in these disorders. They also provide a novel potential target (PKC beta) for therapeutic interventions in individuals with ASD.
C1 [Bowton, E.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Dept Mol Physiol, Nashville, TN 37232 USA.
[Bowton, E.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Dept Biophys, Nashville, TN 37232 USA.
[Bowton, E.; Saunders, C.; Reddy, I. A.; Campbell, N. G.; Hamilton, P. J.; Sakrikar, D.; Veenstra-VanderWeele, J. M.; Blakely, R. D.; Sutcliffe, J.; Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, Vanderbilt Brain Inst, Nashville, TN 37232 USA.
[Saunders, C.; Sakrikar, D.; Blakely, R. D.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
[Henry, L. K.] Univ N Dakota, Dept Basic Sci, Grand Forks, ND 58201 USA.
[Coon, H.] Univ Utah, Dept Psychiat, Salt Lake City, UT USA.
[Veenstra-VanderWeele, J. M.; Sutcliffe, J.] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37232 USA.
[Matthies, H. J. G.; Erreger, K.; Galli, A.] Vanderbilt Univ, Med Ctr, N PISA Neurosci Program Subst Abuse, Nashville, TN 37232 USA.
RP Matthies, HJG (reprint author), Vanderbilt Univ, Med Ctr, Dept Mol Physiol, 465 21st Ave South,MRB3,Room 7124, Nashville, TN 37232 USA.
EM heiner.matthies@vanderbilt.edu; kevin.erreger@vanderbilt.edu;
aurelio.galli@vanderbilt.edu
RI Sutcliffe, James/C-1348-2012
OI Sutcliffe, James/0000-0001-5200-6007
FU NIH [MH095044, DA035263, DA012408, MH094400]
FX This work was supported by NIH MH095044 (RDB), DA035263 (AG), DA012408
(AG), MH094400 (HC).
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NR 95
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 OCT
PY 2014
VL 4
AR e464
DI 10.1038/tp.2014.90
PG 11
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100008
PM 25313507
ER
PT J
AU James, SJ
Shpyleva, S
Melnyk, S
Pavliv, O
Pogribny, IP
AF James, S. J.
Shpyleva, S.
Melnyk, S.
Pavliv, O.
Pogribny, I. P.
TI Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is
associated with increased gene expression and decreased MeCP2 binding in
autism cerebellum
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID EMBRYONIC STEM-CELLS; OXIDATIVE STRESS; DNA METHYLATION; RETT-SYNDROME;
SPECTRUM DISORDER; NERVOUS-SYSTEM; PURKINJE-CELLS; HOMEOBOX GENE; BRAIN;
5-METHYLCYTOSINE
AB Epigenetic mechanisms regulate programmed gene expression during prenatal neurogenesis and serve as a mediator between genetics and environment in postnatal life. The recent discovery of 5-hydroxymethylcytosine (5-hmC), with highest concentration in the brain, has added a new dimension to epigenetic regulation of neurogenesis and the development of complex behavior disorders. Here, we take a candidate gene approach to define the role 5-hmC in Engrailed-2 (EN-2) gene expression in the autism cerebellum. The EN-2 homeobox transcription factor, previously implicated in autism, is essential for normal cerebellar patterning and development. We previously reported EN-2 overexpression associated with promoter DNA hypermethylation in the autism cerebellum but because traditional DNA methylation methodology cannot distinguish 5-methylcytosine (5-mC) from 5-hmC, we now extend our investigation by quantifying global and gene-specific 5-mC and 5-hmC. Globally, 5-hmC was significantly increased in the autism cerebellum and accompanied by increases in the expression of de novo methyltransferases DNMT3A and DNMT3B, ten-eleven translocase genes TET1 and TET3, and in 8-oxo-deoxyguanosine (8-oxo-dG) content, a marker of oxidative DNA damage. Within the EN-2 promoter, there was a significant positive correlation between 5-hmC content and EN-2 gene expression. Based on reports of reduced MeCP2 affinity for 5-hmC, MeCP2 binding studies in the EN-2 promoter revealed a significant decrease in repressive MeCP2 binding that may contribute to the aberrant overexpression of EN-2. Because normal cerebellar development depends on perinatal EN-2 downregulation, the sustained postnatal overexpression suggests that a critical window of cerebellar development may have been missed in some individuals with autism with downstream developmental consequences. Epigenetic regulation of the programmed on-off switches in gene expression that occur at birth and during early brain development warrants further investigation
C1 [James, S. J.; Shpyleva, S.; Melnyk, S.; Pavliv, O.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, Little Rock, AR 72202 USA.
[Pogribny, I. P.] Natl Ctr Toxicol Res, Div Biochem Toxicol, Jefferson, AR 72079 USA.
RP James, SJ (reprint author), Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Dept Pediat, 13 Childrens Way,Slot 512-41B, Little Rock, AR 72202 USA.
EM jamesjill@uams.edu
FU National Institute of Child Health and Development [1RO1HD051873]; Jane
Botsford Johnson Foundation; Arkansas Biosciences Institute
FX We thank the families of individuals with autism for the thoughtful
donation of postmortem tissues to the Autism Tissue Program at the
Harvard Brain Tissue Resource Center and the National Institute of Child
Health and Development Brain and Tissue Bank for Developmental Disorders
at the University of Maryland. This study was funded by the National
Institute of Child Health and Development (1RO1HD051873 to SJJ) and the
Jane Botsford Johnson Foundation and Arkansas Biosciences Institute.
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NR 54
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 OCT
PY 2014
VL 4
AR e460
DI 10.1038/tp.2014.87
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100005
PM 25290267
ER
PT J
AU Kim, Y
Xia, K
Tao, R
Giusti-Rodriguez, P
Vladimirov, V
van den Oord, E
Sullivan, PF
AF Kim, Y.
Xia, K.
Tao, R.
Giusti-Rodriguez, P.
Vladimirov, V.
van den Oord, E.
Sullivan, P. F.
TI A meta-analysis of gene expression quantitative trait loci in brain
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; RECESSIVE INTELLECTUAL DISABILITY; AUTISM
SPECTRUM DISORDERS; HUMAN PREFRONTAL CORTEX; COPY NUMBER VARIATION;
PSYCHIATRIC-DISORDERS; MITOCHONDRIAL DYSFUNCTION; BIPOLAR DISORDER; RISK
LOCI; DE-NOVO
AB Current catalogs of brain expression quantitative trait loci (eQTL) are incomplete and the findings do not replicate well across studies. All existing cortical eQTL studies are small and emphasize the need for a meta-analysis. We performed a meta-analysis of 424 brain samples across five studies to identify regulatory variants influencing gene expression in human cortex. We identified 3584 genes in autosomes and chromosome X with false discovery rate q < 0.05 whose expression was significantly associated with DNA sequence variation. Consistent with previous eQTL studies, local regulatory variants tended to occur symmetrically around transcription start sites and the effect was more evident in studies with large sample sizes. In contrast to random SNPs, we observed that significant eQTLs were more likely to be near 5'-untranslated regions and intersect with regulatory features. Permutation-based enrichment analysis revealed that SNPs associated with schizophrenia and bipolar disorder were enriched among brain eQTLs. Genes with significant eQTL evidence were also strongly associated with diseases from OMIM (Online Mendelian Inheritance in Man) and the NHGRI (National Human Genome Research Institute) genome-wide association study catalog. Surprisingly, we found that a large proportion (28%) of similar to 1000 autosomal genes encoding proteins needed for mitochondrial structure or function were eQTLs (enrichment P-value = 1.3 x 10(-9)), suggesting a potential role for common genetic variation influencing the robustness of energy supply in brain and a possible role in the etiology of some psychiatric disorders. These systematically generated eQTL information should be a valuable resource in determining the functional mechanisms of brain gene expression and the underlying biology of associations with psychiatric disorders.
C1 [Kim, Y.; Giusti-Rodriguez, P.; Sullivan, P. F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
[Xia, K.; Sullivan, P. F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Tao, R.] Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.
[Vladimirov, V.] Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA.
[Vladimirov, V.] Johns Hopkins Univ, Lieber Inst Brain Dev, Baltimore, MD USA.
[van den Oord, E.] Virginia Commonwealth Univ, Ctr Biomarker Res & Personalized Med, Richmond, VA USA.
[Sullivan, P. F.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Kim, Y (reprint author), Univ N Carolina, Dept Genet, CB 7264,5097 Genom Med, Chapel Hill, NC 27599 USA.
EM yunjungk@email.unc.edu
FU US National Institutes of Health; Stanley Medical Research Institute
[08R-1959]; National Institute of Mental Health [R01MH097283]
FX We thank Duan Qing and Nun Li for the help and support for genotype
imputation using MaCH-Admix. We also thank Wei Sun for the help in eQTL
analysis. Funding for this project was from the US National Institutes
of Health who had no role in the design, execution, analysis and
manuscript preparation. This work was funded by grant #08R-1959 (VV)
from the Stanley Medical Research Institute and by grant #R01MH097283
(EvdO) from the National Institute of Mental Health.
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NR 101
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD OCT
PY 2014
VL 4
AR e459
DI 10.1038/tp.2014.96
PG 10
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100004
PM 25290266
ER
PT J
AU Tsilioni, I
Dodman, N
Petra, AI
Taliou, A
Francis, K
Moon-Fanelli, A
Shuster, L
Theoharides, TC
AF Tsilioni, I.
Dodman, N.
Petra, A. I.
Taliou, A.
Francis, K.
Moon-Fanelli, A.
Shuster, L.
Theoharides, T. C.
TI Elevated serum neurotensin and CRH levels in children with autistic
spectrum disorders and tail-chasing Bull Terriers with a phenotype
similar to autism
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID CORTICOTROPIN-RELEASING HORMONE; MAST-CELL DEGRANULATION;
VASCULAR-PERMEABILITY; ANIMAL-MODELS; MITOCHONDRIAL DYSFUNCTION;
BEHAVIORAL PHENOTYPES; IMMUNE DYSREGULATION; SKIN DISORDERS; ACUTE
STRESS; INFLAMMATION
AB Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by defects in communication and social interactions, as well as stereotypic behaviors. Symptoms typically worsen with anxiety and stress. ASD occur in early childhood, often present with regression and have a prevalence of 1 out of 68 children. The lack of distinct pathogenesis or any objective biomarkers or reliable animal models hampers our understanding and treatment of ASD. Neurotensin (NT) and corticotropin-releasing hormone (CRH) are secreted under stress in various tissues, and have proinflammatory actions. We had previously shown that NT augments the ability of CRH to increase mast cell (MC)-dependent skin vascular permeability in rodents. CRH also induced NT receptor gene and protein expression in MCs, which have been implicated in ASD. Here we report that serum of ASD children (4-10 years old) has significantly higher NT and CRH levels as compared with normotypic controls. Moreover, there is a statistically significant correlation between the number of children with gastrointestinal symptoms and high serum NT levels. In Bull Terriers that exhibit a behavioral phenotype similar to the clinical presentation of ASD, NT and CRH levels are also significantly elevated, as compared with unaffected dogs of the same breed. Further investigation of serum NT and CRH, as well as characterization of this putative canine breed could provide useful insights into the pathogenesis, diagnosis and treatment of ASD.
C1 [Tsilioni, I.; Petra, A. I.; Shuster, L.; Theoharides, T. C.] Tufts Univ, Sch Med, Dept Integrat Physiol & Pathobiol, Boston, MA 02111 USA.
[Dodman, N.; Moon-Fanelli, A.] Tufts Univ, Cummings Sch Vet Med, Dept Clin Sci, Grafton, MA USA.
[Taliou, A.; Francis, K.] Univ Athens, Attikon Gen Hosp, Dept Psychiat 2, Athens, Greece.
[Theoharides, T. C.] Tufts Univ, Sch Med, Dept Internal Med, Boston, MA 02111 USA.
[Theoharides, T. C.] Tufts Med Ctr, Boston, MA USA.
[Theoharides, T. C.] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
RP Theoharides, TC (reprint author), Tufts Univ, Sch Med, Dept Integrat Physiol & Pathobiol, 136 Harrison Ave,Suite J304, Boston, MA 02111 USA.
EM theoharis.theoharides@tufts.edu
FU Autism Research Institute; National Autism Association; Theta Biomedical
Consulting and Development (Brookline, MA, USA)
FX This study was supported in part by the Autism Research Institute,
National Autism Association and Theta Biomedical Consulting and
Development (Brookline, MA, USA). We thank Dr AK Theoharides for
collecting the human normotypic serum samples and Mrs Smaro Panagiotidou
for her word processing skills.
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NR 81
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD OCT
PY 2014
VL 4
AR e466
DI 10.1038/tp.2014.106
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HT
UT WOS:000344827100010
PM 25313509
ER
PT J
AU Ji, BB
Sun, M
Yi, RF
Tang, SY
AF Ji, Binbin
Sun, Mei
Yi, Rongfang
Tang, Siyuan
TI Multidisciplinary Parent Education for Caregivers of Children with
Autism Spectrum Disorders
SO ARCHIVES OF PSYCHIATRIC NURSING
LA English
DT Article
ID QUALITY-OF-LIFE; PERCEIVED SOCIAL SUPPORT; MENTAL-HEALTH;
MULTIDIMENSIONAL SCALE; BURDEN INVENTORY; SELF-EFFICACY; MOTHERS;
ADOLESCENTS; STIGMA; STRESS
AB This quasi-experimental study aimed to determine the effectiveness of a multidisciplinary parent education program focused on improving health-related quality of life (HRQOL) for caregivers of children with autism spectrum disorders (ASD). This study included 42 participants (22 intervention, 20 wait-list control) who were the main caregivers of children with ASD. Data were collected at baseline and post-intervention. At the end of the multidisciplinary parent education program, significant improvements were observed in the mental HRQOL, family functioning, self-efficacy and positive coping style. The results indicate that a multidisciplinary parent education program, designed for caregivers of children with ASD, may have positive effects on caregivers' mental health-related quality of life, while having little effect on their physical health-related quality of life. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Ji, Binbin] Hunan Univ Chinese Med, Sch Nursing, Changsha, Hunan, Peoples R China.
[Ji, Binbin; Sun, Mei; Tang, Siyuan] Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
[Yi, Rongfang] Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China.
RP Tang, SY (reprint author), Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
EM ji04binbin@163.com; 767951031@qq.com; 524027589@qq.com;
tangsyuan@126.com
FU Central South University [CX2012B083]
FX This research was supported by Central South University (CX2012B083)
awarded to Binbin Ji.
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World Health Organization, 1993, ICD 10 CLASS MENT BE, P36
Xie YN, 1998, CHINESE J CLIN PSYCH, V6, P114
[熊妮娜 Xiong Nina], 2010, [中国康复医学杂志, Chinese Journal of Rehabilitation Medicine], V25, P670
Xu S. Y., 2010, CHINESE J NURSE ED, V7, P550
Xu X. S., 2006, CHINESE J CLIN REHAB, V10, P25
Yang X. T., 2009, PROGR ANATOMICAL SCI, V15, P383
Zablotsky B, 2013, J AUTISM DEV DISORD, V43, P1380, DOI 10.1007/s10803-012-1693-7
ZHANG JX, 1995, PSYCHOLOGIA, V38, P174
ZIMET GD, 1990, J PERS ASSESS, V55, P610, DOI 10.1207/s15327752jpa5503&4_17
NR 50
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 0883-9417
EI 1532-8228
J9 ARCH PSYCHIAT NURS
JI Arch. Psychiatr. Nurs.
PD OCT
PY 2014
VL 28
IS 5
BP 319
EP 326
DI 10.1016/j.apnu.2014.06.003
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AS4CD
UT WOS:000344220100006
PM 25439973
ER
PT J
AU Ji, B
Zhao, I
Turner, C
Sun, M
Yi, RF
Tang, SY
AF Ji, Binbin
Zhao, Isabella
Turner, Catherine
Sun, Mei
Yi, Rongfang
Tang, Siyuan
TI Predictors of Health-Related Quality of Life in Chinese Caregivers of
Children With Autism Spectrum Disorders: A Cross-Sectional Study
SO ARCHIVES OF PSYCHIATRIC NURSING
LA English
DT Article
ID PERCEIVED SOCIAL SUPPORT; MULTIDIMENSIONAL SCALE; BURDEN INVENTORY;
AFFILIATE STIGMA; MENTAL-HEALTH; PARENTS; STRESS; FACE
AB The purpose of this study was to identify the predictors of health-related quality of life (HRQOL) among caregivers of children with autism spectrum disorders (ASD) in China. Two hundred and seventy-three caregivers were surveyed using questionnaires on HRQOL, family functioning, coping style, social support, and caregiver burden. Besides socio-demographic characteristics of children with ASD and their caregivers, results demonstrate that family functioning, coping style, social support, caregiver burden are predictors of HRQOL in caregivers of children with ASD, and these predictors correlated with each other. These results indicate that comprehensive intervention, which focuses on improving caregivers' coping strategies, social support (especially from family members and friends) and family functioning, and on releasing caregiver burden, should be provided to caregivers of children with ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Ji, Binbin; Sun, Mei; Tang, Siyuan] Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
[Zhao, Isabella; Turner, Catherine] Univ Queensland, Sch Nursing & Midwifery, Brisbane, Qld, Australia.
[Yi, Rongfang] Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China.
RP Tang, SY (reprint author), Cent S Univ, Sch Nursing, Changsha, Hunan, Peoples R China.
EM ji04binbin@163.com; i.zhao@uq.edu.au; catherine.turner@uq.edu.au;
767951031@qq.com; 524027589@qq.com; ji0binbin@hotmail.com
FU Central South University [CX2012B083]
FX This study was funded by Central South University (CX2012B083).
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Autism-World, 2008, STAT AUT CHIN
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Yang X. T., 2009, PROGR ANATOMICAL SCI, V15, P383
Zablotsky B, 2013, J AUTISM DEV DISORD, V43, P1380, DOI 10.1007/s10803-012-1693-7
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NR 59
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 0883-9417
EI 1532-8228
J9 ARCH PSYCHIAT NURS
JI Arch. Psychiatr. Nurs.
PD OCT
PY 2014
VL 28
IS 5
BP 327
EP 332
DI 10.1016/j.apnu.2014.06.001
PG 6
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA AS4CD
UT WOS:000344220100007
PM 25439974
ER
PT J
AU Barneveld, PS
Swaab, H
van Engeland, H
de Sonneville, L
AF Barneveld, Petra Suzanne
Swaab, Hanna
van Engeland, Herman
de Sonneville, Leo
TI Cross-Sectional Evidence for a Decrease in Cognitive Function With Age
in Children With Autism Spectrum Disorders?
SO AUTISM RESEARCH
LA English
DT Article
DE cognitive functioning; intelligence profiles; development; age; autism
spectrum disorders
ID IQ; PROFILES; CHILDHOOD
AB Autism spectrum disorders (ASD) are associated with early disturbances in brain maturation processes and these interferences presumably have their consequences for the progressive emergence of cognitive deficits later in life, as expressed in intelligence profiles. In this study, we addressed the impact of age on cognitive functioning of 6- to 15-year-old children and adolescents with ASD. Intelligence profiles were measured by the Wechsler Intelligence Scale for Children and compared among four consecutive age cohorts (children aged 6.17-8.03 years, 8.04-9.61 years, and 9.68-11.50 years and adolescents aged 11.54-15.85 years) of 237 high-functioning boys with ASD. The results clearly demonstrated that the global intelligence level was lower in children aged 8 years and older, when compared with 6- and 7-year-old children with ASD. This is mostly due to the Freedom From Distractibility factor, suggesting that older children were less able to sustain their attention, they were more distractible, or had more graph motor difficulties. Moreover, an effect of age was also found with respect to the relatively poor performance on the subtest Comprehension when compared with other verbal comprehension subtests, indicating that specifically the impairments in verbal comprehension and social reasoning abilities were more profound in older children when compared with 6- and 7-year-old children with ASD. Findings of this cross-sectional study showed that it is relevant to take age into account when evaluating the impact of cognitive impairments on intelligence in children with ASD, because the impact of these developmental disorders might be different at different ages. Autism Res2014, 7: 527-534. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Barneveld, Petra Suzanne; Swaab, Hanna; de Sonneville, Leo] Leiden Univ, Dept Clin Child & Adolescent Studies, NL-2300 RB Leiden, Netherlands.
[Swaab, Hanna; de Sonneville, Leo] Leiden Univ, Leiden Inst Brain & Cognit, NL-2300 RB Leiden, Netherlands.
[van Engeland, Herman] Univ Med Ctr Utrecht, Dept Child & Adolescent Psychiat, Rudolf Magnus Inst Neurosci, Utrecht, Netherlands.
RP Barneveld, PS (reprint author), Leiden Univ, Fac Social Sci, Dept Clin Child & Adolescent Studies, POB 9555, NL-2300 RB Leiden, Netherlands.
EM barneveldps@fsw.leidenuniv.nl
CR Achenbach T. M., 1991, INTEGRATIVE GUIDE 19
Achenbach T. M., 1986, MANUAL TEACHER REPOR
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Wechsler D., 1974, MANUAL WECHSLER INTE
NR 31
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 527
EP 534
DI 10.1002/aur.1380
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300001
PM 25132666
ER
PT J
AU Shandley, K
Austin, DW
Bhowmik, JL
AF Shandley, Kerrie
Austin, David W.
Bhowmik, Jahar L.
TI Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum
Disorder?
SO AUTISM RESEARCH
LA English
DT Article
DE porphyrins; biomarker; ASD diagnosis; ASD severity; heavy metals;
mercury
ID OXIDATIVE STRESS; NORMAL-CHILDREN; COPROPORPHYRINOGEN OXIDASE;
ENVIRONMENTAL TOXICITY; EXCRETION; MERCURY; PREVALENCE; EXPOSURE; MARKER
AB A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2-6 years: Group 1children diagnosed with ASD (n=70); Group 2healthy, normally developing siblings of children diagnosed with ASD (n=36); and Group 3healthy, normally developing children with no known blood relative diagnosed with ASD (n=54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res2014, 7: 535-542. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Shandley, Kerrie; Austin, David W.] Deakin Univ, Fac Hlth, Sch Psychol, Burwood, Vic 3125, Australia.
[Bhowmik, Jahar L.] Swinburne Univ Technol, Fac Life & Social Sci, Hawthorn, Vic 3122, Australia.
RP Austin, DW (reprint author), Deakin Univ, Fac Hlth, Sch Psychol, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM david.austin@deakin.edu.au
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Amminger GP, 2007, BIOL PSYCHIAT, V61, P551, DOI 10.1016/j.biopsych.2006.05.007
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NR 38
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 535
EP 542
DI 10.1002/aur.1385
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300002
PM 24756868
ER
PT J
AU Wong, AYS
Hsia, YF
Chan, EW
Murphy, DGM
Simonoff, E
Buitelaar, JK
Wong, ICK
AF Wong, Angel Y. S.
Hsia, Yingfen
Chan, Esther W.
Murphy, Declan G. M.
Simonoff, Emily
Buitelaar, Jan K.
Wong, Ian C. K.
TI The Variation of Psychopharmacological Prescription Rates for People
With Autism Spectrum Disorder (ASD) in 30 Countries
SO AUTISM RESEARCH
LA English
DT Article
DE epidemiology; Gross Domestic Product; Psychopharmacology; Multinational
study
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PSYCHOTROPIC MEDICATION USE;
PSYCHIATRIC-DISORDERS; UNITED-KINGDOM; PRIMARY-CARE; CHILDREN;
ADOLESCENTS; PREVALENCE; POPULATION; UK
AB There is significant variation in prescriptions among countries in clinical practice for the treatment of comorbidities associated with autism spectrum disorder (ASD). It has been suggested that many people with mental health disorders in low-/middle-income countries do not receive adequate treatment. Hence, this study investigated psychopharmacological treatment patterns for ASD comorbidities in 30 countries and the association between country's income and prescription rates. The IMS Prescribing Insights database was used to investigate prescription patterns for ASD comorbidity treatment from 2007 to 2012. Data were obtained from 30 countries in continents of Europe, Asia, Oceania, Central America, South America, and Africa. The gross domestic product (GDP) per capita was used as a proxy for each country's income. Spearman correlation was used to examine the association between prescription rate and GDP per capita. The highest prescription rates were found in Western Europe (3.89-36.36/10,000) while the lowest prescription rates were found in Asian countries, such as Turkey, Indonesia, Saudi Arabia, and Pakistan (0.04-0.82/10,000). The most commonly prescribed drug for ASD comorbidity treatment in most of the countries was risperidone, but antidepressants and antiepileptic drugs were also frequently prescribed. There was a significant positive correlation between GDP per capita and prescription rate (Spearman =0.60; P=0.0011; 95% confidence interval 0.27-0.81), that is, the higher the GDP per capita, the higher the prescription rate. There are marked international differences in prescription rates, and this is partially accounted by economic factors. Future research should combine more data for ASD comorbidity treatment to explore the disparity of psychopharmacological treatment between countries. Autism Res2014, 7: 543-554. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Wong, Angel Y. S.; Hsia, Yingfen; Chan, Esther W.; Wong, Ian C. K.] Univ Hong Kong, Li Ka Shing Fac Med, Dept Pharmacol & Pharm, Ctr Safe Medicat Practice & Res, Pokfulam, Hong Kong, Peoples R China.
[Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev Res, Dept Forens & Dev Sci, London WC2R 2LS, England.
[Simonoff, Emily] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
[Simonoff, Emily] Kings Coll London, Biomed Res Ctr Mental Hlth, London WC2R 2LS, England.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
[Hsia, Yingfen; Wong, Ian C. K.] UCL, UCL Sch Pharm, Dept Practice & Policy, Ctr Paediat Pharm Res, London, England.
RP Wong, ICK (reprint author), Univ Hong Kong, Li Ka Shing Fac Med, Dept Pharmacol & Pharm, Ctr Safe Medicat Practice & Res, Pokfulam, Hong Kong, Peoples R China.
EM wongick@hku.hk
FU Innovative Medicines Initiative (IMI) Joint Undertaking under European
Autism Interventions (EU-AIMS) - European Union [115300]; European
Federation of Pharmaceutical Industries and Associations (EFPIA);
National Institute of Health Research (UK)
FX This research was supported by the Innovative Medicines Initiative (IMI)
Joint Undertaking under grant agreement no. 115300: European Autism
Interventions (EU-AIMS), which are composed of financial contributions
from the European Union's Seventh Framework Programme (FP7/2007-2013),
and the European Federation of Pharmaceutical Industries and
Associations (EFPIA). D. G. M. M., I. C. K. W and E. S. also received
funding from the National Institute of Health Research (UK) for a
program grant on this topic and for a neurodevelopmental theme in the
Biomedical Research Centre at the Institute of Psychiatry, London,
United Kingdom.
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NR 42
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 543
EP 554
DI 10.1002/aur.1391
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300003
PM 24895332
ER
PT J
AU Amodeo, DA
Jones, JH
Sweeney, JA
Ragozzino, ME
AF Amodeo, Dionisio A.
Jones, Joshua H.
Sweeney, John A.
Ragozzino, Michael E.
TI Risperidone and the 5-HT2(A) Receptor Antagonist M100907 Improve
Probabilistic Reversal Learning in BTBR T plus tf/J Mice
SO AUTISM RESEARCH
LA English
DT Article
DE autism; cognitive flexibility; BTBR; reversal learning; serotonin;
risperidone
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; INBRED
MOUSE STRAINS; REPETITIVE BEHAVIOR; DORSOMEDIAL STRIATUM; ATTENTIONAL
SET; DOUBLE-BLIND; ATYPICAL ANTIPSYCHOTICS; ORBITOFRONTAL CORTEX;
MENTAL-RETARDATION
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions with restricted interests and repetitive behaviors (RRBs). RRBs can severely limit daily living and be particularly stressful to family members. To date, there are limited options for treating this feature in ASD. Risperidone, an atypical antipsychotic, is approved to treat irritability in ASD, but less is known about whether it is effective in treating higher order RRBs, for example cognitive inflexibility. Risperidone also has multiple receptor targets in which only a subset may be procognitive and others induce cognitive impairment. 5HT(2A) receptor blockade represents one promising and more targeted approach, as various preclinical studies have shown that 5HT(2A) receptor antagonists improve cognition. The present study investigated whether risperidone and/or M100907, a 5HT(2A) receptor antagonist, improved probabilistic reversal learning performance in the BTBR T+tf/J (BTBR) mouse model of autism. The effects of these treatments were also investigated in C57BL/6J (B6) mice as a comparison strain. Using a spatial reversal learning test with 80/20 probabilistic feedback, similar to one in which ASD individuals exhibit impairments, both risperidone (0.125mg) and M100907 (0.01 and 0.1mg) improved reversal learning in BTBR mice. Risperidone (0.125mg) impaired reversal learning in B6 mice. Improvement in probabilistic reversal learning performance resulted from treatments enhancing the maintenance of the newly correct choice pattern. Because risperidone can lead to unwanted side effects, treatment with a specific 5HT(2A) receptor antagonist may improve cognitive flexibility in individuals with ASD while also minimizing unwanted side effects. Autism Res2014, 7: 555-567. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Amodeo, Dionisio A.; Jones, Joshua H.; Ragozzino, Michael E.] Univ Illinois, Dept Psychol, Chicago, IL 60607 USA.
[Sweeney, John A.] Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA.
RP Ragozzino, ME (reprint author), Univ Illinois, Dept Psychol, 1007 West Harrison St, Chicago, IL 60607 USA.
EM mrago@uic.edu
FU NIH [P50 HD055751]
FX Grant sponsor: NIH Grant Number: P50 HD055751
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TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 555
EP 567
DI 10.1002/aur.1395
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300004
PM 24894823
ER
PT J
AU Wilson, CE
Happe, F
Wheelwright, SJ
Ecker, C
Lombardo, MV
Johnston, P
Daly, E
Murphy, CM
Spain, D
Lai, MC
Chakrabarti, B
Sauter, DA
Baron-Cohen, S
Murphy, DGM
AF Wilson, C. Ellie
Happe, Francesca
Wheelwright, Sally J.
Ecker, Christine
Lombardo, Michael V.
Johnston, Patrick
Daly, Eileen
Murphy, Clodagh M.
Spain, Debbie
Lai, Meng-Chuan
Chakrabarti, Bhismadev
Sauter, Disa A.
Baron-Cohen, Simon
Murphy, Declan G. M.
CA MRC AIMS Consortium
TI The Neuropsychology of Male Adults With High-Functioning Autism or
Asperger Syndrome
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; cognitive profiles; autistic symptomatology;
comorbid psychopathology; support vector machine classification;
autistic subtypes
ID COMPLEX EMOTION RECOGNITION; SPECTRUM QUOTIENT AQ;
INDIVIDUAL-DIFFERENCES; EXECUTIVE DYSFUNCTION; EMPATHY QUOTIENT;
ANIMATED SHAPES; REVISED VERSION; MENTAL STATES; YOUNG-ADULTS; DISORDER
AB Autism Spectrum Disorder (ASD) is diagnosed on the basis of behavioral symptoms, but cognitive abilities may also be useful in characterizing individuals with ASD. One hundred seventy-eight high-functioning male adults, half with ASD and half without, completed tasks assessing IQ, a broad range of cognitive skills, and autistic and comorbid symptomatology. The aims of the study were, first, to determine whether significant differences existed between cases and controls on cognitive tasks, and whether cognitive profiles, derived using a multivariate classification method with data from multiple cognitive tasks, could distinguish between the two groups. Second, to establish whether cognitive skill level was correlated with degree of autistic symptom severity, and third, whether cognitive skill level was correlated with degree of comorbid psychopathology. Fourth, cognitive characteristics of individuals with Asperger Syndrome (AS) and high-functioning autism (HFA) were compared. After controlling for IQ, ASD and control groups scored significantly differently on tasks of social cognition, motor performance, and executive function (P's<0.05). To investigate cognitive profiles, 12 variables were entered into a support vector machine (SVM), which achieved good classification accuracy (81%) at a level significantly better than chance (P<0.0001). After correcting for multiple correlations, there were no significant associations between cognitive performance and severity of either autistic or comorbid symptomatology. There were no significant differences between AS and HFA groups on the cognitive tasks. Cognitive classification models could be a useful aid to the diagnostic process when used in conjunction with other data sourcesincluding clinical history. Autism Res2014, 7: 568-581. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Wilson, C. Ellie; Happe, Francesca; Ecker, Christine; Johnston, Patrick; Daly, Eileen; Murphy, Clodagh M.; Spain, Debbie; Murphy, Declan G. M.] Kings Coll London, Inst Psychiat, Sackler Inst Translat Neurodev, London SE5 8AF, England.
[Wheelwright, Sally J.; Lombardo, Michael V.; Lai, Meng-Chuan; Chakrabarti, Bhismadev; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Wheelwright, Sally J.] Univ Southampton, Southampton, Hants, England.
[Lombardo, Michael V.] Univ Cyprus, Dept Psychol, Nicosia, Cyprus.
[Lombardo, Michael V.] Univ Cyprus, Ctr Appl Neurosci, Nicosia, Cyprus.
[Lai, Meng-Chuan] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10764, Taiwan.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 2AH, Berks, England.
[Sauter, Disa A.] Univ Amsterdam, Dept Social Psychol, Amsterdam, Netherlands.
[MRC AIMS Consortium] Univ Oxford, Autism Res Grp, Oxford, England.
RP Wilson, CE (reprint author), Kings Coll London, Inst Psychiat, Denmark Hill, London SE5 8AF, England.
EM ellie.wilson@kcl.ac.uk
RI Ecker, Christine/E-5194-2010; Bailey, Anthony/J-2860-2014
OI Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council; AIMS Consortium through Medical Research
Council [G0400061]; NIHR Biomedical Research Centre for Mental Health at
King's College London, Institute of Psychiatry; South London & Maudsley
NHS Foundation Trust; European Union [115300]; EFPIA companies
FX The MRC AIMS Consortium is funded by the Medical Research Council and
headed by the Department of Forensic and Neurodevelopmental Sciences,
Institute of Psychiatry. This work was supported by the AIMS Consortium
through grant G0400061 from the Medical Research Council and by the NIHR
Biomedical Research Centre for Mental Health at King's College London,
Institute of Psychiatry, and South London & Maudsley NHS Foundation
Trust. The research leading to these results also received support from
the Innovative Medicines Initiative Joint Undertaking under grant
agreement no 115300, resources of which are composed of financial
contribution from the European Union's Seventh Framework Programme
(FP7/2007-2013) and EFPIA companies' in kind contribution. The authors
would also like to thank all the participants involved in the study.
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NR 73
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 568
EP 581
DI 10.1002/aur.1394
PG 14
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300005
PM 24903974
ER
PT J
AU Slaughter, V
Sen Ong, S
AF Slaughter, Virginia
Sen Ong, Su
TI Social Behaviors Increase More When Children With ASD Are Imitated by
Their Mother vs. an Unfamiliar Adult
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; imitation; mother-child interaction;
intervention; social responsiveness
ID AUTISTIC-CHILDREN; MIMICRY
AB Previous research suggests that being imitated by an adult increases the social behaviors of children with an autism spectrum disorder (ASD). In the current study, we examined whether familiarity with the imitating social partner modulates this effect. Ten children with ASD and their mothers participated. The children's social behaviors were observed prior to and following a 3-min period in which an adult social partner imitated everything they did. In one condition the partner was the child's mother, and in the other condition the partner was an unfamiliar experimenter. The results revealed significant increases in distal social behaviors (gazes toward the adult, vocalizing) following imitation by both partners. There was a significantly greater increase in proximal social behaviors (including approach, being physically close, and touching) and a greater decrease in playing alone when the imitator was the child's mother as opposed to the experimenter. The findings suggest that the experience of being imitated creates an atmosphere of mutuality and rapport between children with ASD and their social partners, which increases their sociability even in interactions with already familiar adults. Autism Res2014, 7: 582-589. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Slaughter, Virginia; Sen Ong, Su] Univ Queensland, Sch Psychol, Early Cognit Dev Ctr, Brisbane, Qld 4072, Australia.
RP Slaughter, V (reprint author), Univ Queensland, Sch Psychol, Mc Elwain Bldg, Brisbane, Qld 4072, Australia.
EM vps@psy.uq.edu.au
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NR 24
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 582
EP 589
DI 10.1002/aur.1392
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300006
PM 24903832
ER
PT J
AU Akechi, H
Stein, T
Senju, A
Kikuchi, Y
Tojo, Y
Osanai, H
Hasegawa, T
AF Akechi, Hironori
Stein, Timo
Senju, Atsushi
Kikuchi, Yukiko
Tojo, Yoshikuni
Osanai, Hiroo
Hasegawa, Toshikazu
TI Absence of Preferential Unconscious Processing of Eye Contact in
Adolescents With Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE eye contact; gaze processing; autism spectrum disorder; unconscious
processing
ID CONTINUOUS FLASH SUPPRESSION; INTEROCULAR SUPPRESSION; FUNCTIONAL
CONNECTIVITY; BINOCULAR-RIVALRY; GAZE DIRECTION; CHILDREN; AMYGDALA;
FACES; RESPONSES; PERCEPTION
AB Eye contact plays an essential role in social interaction. Atypical eye contact is a diagnostic and widely reported feature of autism spectrum disorder (ASD). Here, we determined whether altered unconscious visual processing of eye contact might underlie atypical eye contact in ASD. Using continuous flash suppression (CFS), we found that typically developing (TD) adolescents detected faces with a direct gaze faster than faces with an averted gaze, indicating enhanced unconscious processing of eye contact. Critically, adolescents with ASD did not show different durations of perceptual suppression for faces with direct and averted gaze, suggesting that preferential unconscious processing of eye contact is absent in this group. In contrast, in a non-CFS control experiment, both adolescents with ASD and TD adolescents detected faces with a direct gaze faster than those with an averted gaze. Another CFS experiment confirmed that unconscious processing of non-social stimuli is intact for adolescents with ASD. These results suggest that atypical processing of eye contact in individuals with ASD could be related to a weaker initial, unconscious registration of eye contact. Autism Res2014, 7: 590-597. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Akechi, Hironori; Kikuchi, Yukiko] Japan Soc Promot Sci, Tokyo, Japan.
[Akechi, Hironori] Tokyo Denki Univ, Div Informat Syst Design, Saitama, Japan.
[Stein, Timo] Univ Trento, Ctr Mind Brain Sci CIMeC, Trento, Italy.
[Senju, Atsushi] Birkbeck Univ London, Ctr Brain & Cognit Dev, London, England.
[Kikuchi, Yukiko; Tojo, Yoshikuni] Ibaraki Univ, Coll Educ, Ibaraki, Japan.
[Osanai, Hiroo] Musashino Higashi Gakuen, Musashino Higashi Ctr Educ & Res, Tokyo, Japan.
[Hasegawa, Toshikazu] Univ Tokyo, Dept Cognit & Behav Sci, Tokyo 1538902, Japan.
RP Akechi, H (reprint author), Univ Tampere, Sch Social Sci & Humanities, Tampere 33014, Finland.
EM akechi@cogn.jp
FU Japan Society for the Promotion of Science (JSPS) [2310946, 2310196];
JSPS [24330207]; UK Medical Research Council [1100252]; Center for
Evolutionary Cognitive Sciences at University of Tokyo
FX Grant sponsors: Japan Society for the Promotion of Science (JSPS):
Grant-in-Aid for JSPS Fellows #2310946 (H. A.) and #2310196 (Y.K.),
JSPS: Grant-in-Aid for Scientific Research (B) #24330207 (T. H.), UK
Medical Research Council Career Development Award (G) #1100252 (A. S.),
and Center for Evolutionary Cognitive Sciences at University of Tokyo.
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NR 49
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 590
EP 597
DI 10.1002/aur.1397
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300007
PM 24962761
ER
PT J
AU Rudra, A
Banerjee, S
Singhal, N
Barua, M
Mukerji, S
Chakrabarti, B
AF Rudra, Alokananda
Banerjee, Saoni
Singhal, Nidhi
Barua, Merry
Mukerji, Shaneel
Chakrabarti, Bhismadev
TI Translation and Usability of Autism Screening and Diagnostic Tools for
Autism Spectrum Conditions in India
SO AUTISM RESEARCH
LA English
DT Article
DE screening; global mental health; translation; cultural
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; CUMULATIVE
INCIDENCE; GENERAL-POPULATION; YOUNG-CHILDREN; VALIDITY; PREVALENCE;
CHECKLIST; JAPAN; QUESTIONNAIRE
AB There is a critical need for screening and diagnostic tools (SDT) for autism spectrum conditions (ASC) in regional languages in South Asia. To address this, we translated four widely used SDT (Social Communication Disorder Checklist, Autism Spectrum Quotient, Social Communication Questionnaire, and Autism Diagnostic Observation Schedule) into Bengali and Hindi, two main regional languages (approximate to 360 million speakers), and tested their usability in children with and without ASC. We found a significant difference in scores between children with ASC (n=45 in Bengali, n=40 in Hindi) and typically developing children (n=43 in Bengali, n=42 in Hindi) on all SDTs. These results demonstrate that these SDTs are usable in South Asia, and constitute an important resource for epidemiology research and clinical diagnosis in the region. Autism Res2014, 7: 598-607. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Rudra, Alokananda; Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
[Banerjee, Saoni; Mukerji, Shaneel] Creating Connect, Kolkata, India.
[Singhal, Nidhi; Barua, Merry] Act Autism, Natl Ctr Autism, Delhi, India.
[Chakrabarti, Bhismadev] Univ Cambridge, Autism Res Ctr, Cambridge, England.
RP Chakrabarti, B (reprint author), Univ Reading, Sch Psychol & Clin Language Sci, Reading RG6 6AL, Berks, England.
EM b.chakrabarti@reading.ac.uk
FU Autism Speaks
FX Grant sponsor: Autism Speaks.
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 598
EP 607
DI 10.1002/aur.1404
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300008
PM 25277878
ER
PT J
AU Caceres, AS
Keren, N
Booth, R
Happe, F
AF Caceres, Antonia San Jose
Keren, Noa
Booth, Rhonda
Happe, Francesca
TI Assessing Theory of Mind Nonverbally in Those With Intellectual
Disability and ASD: The Penny Hiding Game
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; intellectual disability; Penny Hiding Game;
theory of mind; everyday functioning; adaptive functioning
ID AUTISTIC SPECTRUM DISORDERS; TASK-PERFORMANCE; FALSE BELIEF;
ROLE-TAKING; CHILDREN; BEHAVIOR; DECEPTION; LANGUAGE; 2-YEAR-OLDS;
IMPAIRMENT
AB Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD+ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD+ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD+ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. Autism Res2014, 7: 608-616. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Caceres, Antonia San Jose] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
[Keren, Noa] Kings Coll London, Sch Med, London SE5 8AF, England.
[Booth, Rhonda] Kings Coll London, Inst Child Hlth, London SE5 8AF, England.
[Happe, Francesca] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
RP Caceres, AS (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, POB 23,16 De Crespigny Pk, London SE5 8AF, England.
EM antonia.sanjose@kcl.ac.uk
FU Institute of Social Psychiatry
FX This study has been supported by an Institute of Social Psychiatry
grant, awarded to the first author as part of her PhD project. We would
like to thank all the staff at the schools that kindly opened their
doors to make this project possible: Downsview, Durants, Hatton, Hay
Lane, Horizon, Kisharon, Mapledown, Millfields, Oak Lodge, Phoenix,
Samuel Rhodes, Trinity, Tysson, West Lea, and Whitmore.
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NR 42
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 608
EP 616
DI 10.1002/aur.1405
PG 9
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300009
ER
PT J
AU Lambert, N
Wermenbol, V
Pichon, B
Acosta, S
van den Ameele, J
Perazzolo, C
Messina, D
Musumeci, MF
Dessars, B
De Leener, A
Abramowicz, M
Vilain, C
AF Lambert, Nelle
Wermenbol, Vanessa
Pichon, Bruno
Acosta, Sandra
van den Ameele, Jelle
Perazzolo, Camille
Messina, Diana
Musumeci, Maria-Franca
Dessars, Barbara
De Leener, Anne
Abramowicz, Marc
Vilain, Catheline
TI A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; c-MET; social brain; neurodevelopment
ID RECEPTOR TYROSINE KINASE; DE-NOVO MUTATIONS; BRAIN-DEVELOPMENT; MOUSE
FOREBRAIN; GENETIC VARIANT; ASSOCIATION; EXPRESSION; RISK
AB Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues. Autism Res2014, 7: 617-622. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Lambert, Nelle; Pichon, Bruno; Dessars, Barbara; De Leener, Anne; Abramowicz, Marc; Vilain, Catheline] Univ Libre Bruxelles, Hop Erasme, ULB Ctr Human Genet, B-1070 Brussels, Belgium.
[Lambert, Nelle; Acosta, Sandra; van den Ameele, Jelle; Perazzolo, Camille; Abramowicz, Marc] Univ Libre Bruxelles, IRIBHM, B-1070 Brussels, Belgium.
[Wermenbol, Vanessa; Messina, Diana] Univ Libre Bruxelles, Hop Erasme, Dept Paediat Neurol, B-1070 Brussels, Belgium.
[van den Ameele, Jelle] Ghent Univ Hosp, Dept Neurol, Ghent, Belgium.
[Musumeci, Maria-Franca] Commiss European Communities, European Sch, B-1049 Brussels, Belgium.
RP Lambert, N (reprint author), Univ Libre Bruxelles, Hop Erasme, ULB Ctr Human Genet, Route Lennik 808, B-1070 Brussels, Belgium.
EM Nelle.Lambert@ulb.ac.be
FU Fonds de la Recherche Scientifique Medicale (FRSM) of the Belgian FNRS;
Fonds Erasme; Fonds IRIS
FX We thank P. Vanderhaeghen for continuous support and interest, and the
members of IRIBHM for helpful discussions and advice. We thank the
patients and families for participating in the study. N. Lambert is an
MD. Postdoctoral Fellow of the FNRS, J. van den Ameele is a Research
Fellow of the FNRS, and M. Abramowicz is supported by the Fonds de la
Recherche Scientifique Medicale (FRSM) of the Belgian FNRS and by the
Fonds Erasme. Patients' parents gave written informed consent. C. Vilain
is supported by Fonds IRIS.
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NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD OCT
PY 2014
VL 7
IS 5
BP 617
EP 622
DI 10.1002/aur.1396
PG 6
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AS0MO
UT WOS:000343971300010
PM 24909855
ER
PT J
AU Carr, ME
Moore, DW
Anderson, A
AF Carr, Monica E.
Moore, Dennis W.
Anderson, Angelika
TI Self-Management Interventions on Students With Autism: A Meta-Analysis
of Single-Subject Research
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID SPECTRUM DISORDERS; CLASSROOM-BEHAVIOR; GENERAL-EDUCATION;
ASPERGER-SYNDROME; SCHOOL SETTINGS; SOCIAL SKILLS; CHILDREN; INCREASE;
DISABILITIES; PRESCHOOLERS
AB Self-management interventions aimed at skill acquisition and/or improving behavior of students diagnosed with autism spectrum disorders were examined. Twenty-three single-subject research design studies met inclusion criteria. Quality assessment of these studies was conducted using the What Works Clearinghouse guidelines, and treatment effect sizes were calculated using the percentage of nonoverlapping data. Results were analyzed by age, setting, functional level, and target behaviors. Results indicate that self-management interventions are effective for increasing both social and academic skills for students of all ages and levels of ability. Results generalized to other settings and untreated behaviors and were maintained over time. Sufficient evidence supports the conclusion that self-management is an evidence-based procedure for students diagnosed with autism spectrum disorders.
C1 [Carr, Monica E.; Moore, Dennis W.; Anderson, Angelika] Monash Univ, Krongold Ctr, Fac Educ, Melbourne, Vic 3800, Australia.
RP Carr, ME (reprint author), Monash Univ, Fac Educ, Bldg 6,Clayton Campus, Melbourne, Vic 3800, Australia.
EM mebar4@student.monash.edu
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NR 54
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD OCT
PY 2014
VL 81
IS 1
BP 28
EP 44
DI 10.1177/0014402914532235
PG 17
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9ZD
UT WOS:000343935300004
ER
PT J
AU Boswell, K
Zablotsky, B
Smith, C
AF Boswell, Katelyn
Zablotsky, Benjamin
Smith, Christopher
TI Predictors of Autism Enrollment in Public School Systems
SO EXCEPTIONAL CHILDREN
LA English
DT Article
ID MENTAL-HEALTH-SERVICES; PERVASIVE DEVELOPMENTAL DISORDERS; DISABILITIES
MONITORING NETWORK; US METROPOLITAN-AREA; SPECTRUM DISORDERS;
UNITED-STATES; SOCIOECONOMIC-STATUS; CHILDREN; PREVALENCE; DIAGNOSIS
AB With a number of disparities present in the diagnosis and treatment of children with autism spectrum disorders, the education system plays a crucial role in the provision of both these service elements. Based on school and federal census data, this article examines one state's public school autism enrollment and possible predictors of enrollment within each jurisdiction. The authors' analyses found that actual prevalence is inconsistent with expectations across jurisdictions, with socioeconomic status indicators, race, geographic location, and racial diagnostic discrepancies in special education significantly predicting enrollment. This report exemplifies how secondary analysis of educational data can allow states to better allocate funding, begin to address issues pertaining to lags and unmet standards, and find model systems within their states.
C1 [Boswell, Katelyn] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21211 USA.
[Zablotsky, Benjamin] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA.
[Smith, Christopher] Kennedy Krieger Inst, Maryland Ctr Dev Disabil, Baltimore, MD 21211 USA.
RP Boswell, K (reprint author), Kennedy Krieger Inst, Ctr Autism & Related Disorders, 3901 Greenspring Ave, Baltimore, MD 21211 USA.
EM boswellk@kennedykrieger.org
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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 0014-4029
EI 2163-5560
J9 EXCEPT CHILDREN
JI Except. Child.
PD OCT
PY 2014
VL 81
IS 1
BP 96
EP 106
DI 10.1177/0014402914532230
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AR9ZD
UT WOS:000343935300008
ER
PT J
AU Saitsu, H
Tohyama, J
Walsh, T
Kato, M
Kobayashi, Y
Lee, M
Tsurusaki, Y
Miyake, N
Goto, Y
Nishino, I
Ohtake, A
King, MC
Matsumoto, N
AF Saitsu, Hirotomo
Tohyama, Jun
Walsh, Tom
Kato, Mitsuhiro
Kobayashi, Yu
Lee, Ming
Tsurusaki, Yoshinori
Miyake, Noriko
Goto, Yu-ichi
Nishino, Ichizo
Ohtake, Akira
King, Mary-Claire
Matsumoto, Naomichi
TI A girl with West syndrome and autistic features harboring a de novo
TBL1XR1 mutation
SO JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID PITT-HOPKINS-SYNDROME; E-SELECTIN; TBL1-TBLR1; GENES; TCF4
AB Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A ( p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.
C1 [Saitsu, Hirotomo; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan.
[Tohyama, Jun; Kobayashi, Yu] Nishi Niigata Chuo Natl Hosp, Dept Pediat, Niigata, Japan.
[Walsh, Tom; Lee, Ming; King, Mary-Claire] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Walsh, Tom; Lee, Ming; King, Mary-Claire] Univ Washington, Dept Med, Seattle, WA USA.
[Kato, Mitsuhiro] Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan.
[Goto, Yu-ichi] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 1870031, Japan.
[Nishino, Ichizo] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 1870031, Japan.
[Ohtake, Akira] Saitama Med Univ, Fac Med, Dept Pediat, Saitama, Japan.
RP Saitsu, H (reprint author), Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan.
EM hsaitsu@yokohama-cu.ac.jp; naomat@yokohama-cu.ac.jp
FU Japanese Ministry of Health, Labour, and Welfare; Japan Society for the
Promotion of Science [25293085, 25293235, 13313587]; Takeda Science
Foundation; fund for Creation of Innovation Centers for Advanced
Interdisciplinary Research Areas Program in the Project for Developing
Innovation Systems; Strategic Research Program for Brain Sciences
[11105137]; Japanese Ministry of Education, Culture, Sports, Science,
and Technology [12024421]
FX We would like to thank the patient and her family for their
participation in this study. We thank Kiyomi Nishiyama for her technical
assistance. This study was supported by: the Japanese Ministry of
Health, Labour, and Welfare; the Japan Society for the Promotion of
Science (a Grant-in-Aid for Scientific Research (B) (25293085, 25293235)
and a Grant-in-Aid for Scientific Research (A) (13313587)); the Takeda
Science Foundation; the fund for Creation of Innovation Centers for
Advanced Interdisciplinary Research Areas Program in the Project for
Developing Innovation Systems; the Strategic Research Program for Brain
Sciences (11105137); and a Grant-in-Aid for Scientific Research on
Innovative Areas (Transcription Cycle) from the Japanese Ministry of
Education, Culture, Sports, Science, and Technology (12024421).
CR Amiel J, 2007, AM J HUM GENET, V80, P988, DOI 10.1086/515582
Choi HK, 2011, MOL CELL, V43, P203, DOI 10.1016/j.molcel.2011.05.027
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Mastrangelo M, 2012, PEDIATR NEUROL, V46, P24, DOI 10.1016/j.pediatrneurol.2011.11.003
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NR 11
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1434-5161
EI 1435-232X
J9 J HUM GENET
JI J. Hum. Genet.
PD OCT
PY 2014
VL 59
IS 10
BP 581
EP 583
DI 10.1038/jhg.2014.71
PG 3
WC Genetics & Heredity
SC Genetics & Heredity
GA AS9DB
UT WOS:000344542300007
PM 25102098
ER
PT J
AU Salhia, HO
Al-Nasser, LA
Taher, LS
Al-Khathaami, AM
El-Metwally, AA
AF Salhia, Huda O.
Al-Nasser, Lubna A.
Taher, Lama S.
Al-Khathaami, Ali M.
El-Metwally, Ashraf A.
TI Systemic review of the epidemiology of autism in Arab Gulf countries
SO NEUROSCIENCES
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; EARLY
INTERVENTION; SAUDI-ARABIA; ENERGY-METABOLISM; OXIDATIVE STRESS;
CHILDREN; PREVALENCE; ENZYMES; DISEASE
AB Objective: To assess the current state of knowledge on the epidemiology of autism in Arab Gulf countries, and identify gaps for future research.
Methods: PubMed and ScienceDirect databases were used to identify relevant articles published until the 3rd of April 2013 (date of search). The search was conducted using the electronic library of King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Studies were eligible for inclusion if they concerned the epidemiology of autism, conducted in any Arab Gulf country, and published in English.
Results: Twelve articles met the inclusion criteria. Studies showed a prevalence ranging from 1.4 to 29 per 10,000 persons. Identified risk factors were metabolic, autoimmune, and environmental in nature. The following determinants were found as possible contributing factors for autism: suboptimal breast-feeding, advanced maternal and paternal age, cesarean section, and prenatal complications.
Conclusion: Only a few studies explored the epidemiology of autism in Arab Gulf countries and none have investigated the burden of the disease on the child, family, or society. More research is needed to better identify the burden and risk factors of autism in Gulf countries.
C1 [Salhia, Huda O.; Al-Nasser, Lubna A.; Taher, Lama S.; Al-Khathaami, Ali M.; El-Metwally, Ashraf A.] King Saud Bin Abdulaziz Univ Hlth Sci, Coll Publ Hlth & Hlth Informat, Dept Epidemiol & Biostat, Riyadh 11426, Saudi Arabia.
[Salhia, Huda O.] King Abdul Aziz Med City, Alghadeer Primary Healthcare Ctr, Riyadh, Saudi Arabia.
[Al-Nasser, Lubna A.] King Abdul Aziz Med City, Dent Serv, Minist Hlth, Primary Healthcare Ctr,Gen Directorate, Riyadh, Saudi Arabia.
[El-Metwally, Ashraf A.] Univ Aberdeen, Inst Appl Hlth Sci, Epidemiol Grp, Aberdeen, Scotland.
RP El-Metwally, AA (reprint author), King Saud Bin Abdulaziz Univ Hlth Sci, Coll Publ Hlth & Hlth Informat, Dept Epidemiol & Biostat, Internal Mail Code 2350,POB 22490, Riyadh 11426, Saudi Arabia.
EM ashraf.elmetwally@gmail.com
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NR 35
TC 0
Z9 0
PU RIYADH ARMED FORCES HOSPITAL
PI RIYADH
PA PO BOX 7897, RIYADH, KSA 11159, SAUDI ARABIA
SN 1319-6138
J9 NEUROSCIENCES
JI Neurosciences
PD OCT
PY 2014
VL 19
IS 4
BP 291
EP 296
PG 6
WC Clinical Neurology
SC Neurosciences & Neurology
GA AS3DP
UT WOS:000344157000004
PM 25274588
ER
PT J
AU Van de Cruys, S
Evers, K
Van der Hallen, R
Van Eylen, L
Boets, B
de-Wit, L
Wagemans, J
AF de Cruys, Sander Van
Evers, Kris
Van der Hallen, Ruth
Van Eylen, Lien
Boets, Bart
de-Wit, Lee
Wagemans, Johan
TI Precise Minds in Uncertain Worlds: Predictive Coding in Autism
SO PSYCHOLOGICAL REVIEW
LA English
DT Article
DE autism spectrum disorder; predictive coding; uncertainty; adaptive
control; learning
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDER; EVENT-RELATED
POTENTIALS; EYED VISUAL-ACUITY; SPECTRUM DISORDERS; MISMATCH NEGATIVITY;
ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; SELECTIVE ATTENTION; MOTION
PERCEPTION
AB There have been numerous attempts to explain the enigma of autism, but existing neurocognitive theories often provide merely a refined description of 1 cluster of symptoms. Here we argue that deficits in executive functioning, theory of mind, and central coherence can all be understood as the consequence of a core deficit in the flexibility with which people with autism spectrum disorder can process violations to their expectations. More formally we argue that the human mind processes information by making and testing predictions and that the errors resulting from violations to these predictions are given a uniform, inflexibly high weight in autism spectrum disorder. The complex, fluctuating nature of regularities in the world and the stochastic and noisy biological system through which people experience it require that, in the real world, people not only learn from their errors but also need to (meta-) learn to sometimes ignore errors. Especially when situations (e. g., social) or stimuli (e. g., faces) become too complex or dynamic, people need to tolerate a certain degree of error in order to develop a more abstract level of representation. Starting from an inability to flexibly process prediction errors, a number of seemingly core deficits become logically secondary symptoms. Moreover, an insistence on sameness or the acting out of stereotyped and repetitive behaviors can be understood as attempts to provide a reassuring sense of predictive success in a world otherwise filled with error.
C1 [de Cruys, Sander Van; de-Wit, Lee; Wagemans, Johan] Katholieke Univ Leuven, Expt Psychol Lab, B-3000 Leuven, Belgium.
[Evers, Kris; Van der Hallen, Ruth] Katholieke Univ Leuven, Expt Psychol Lab, Leuven Autism Res, B-3000 Leuven, Belgium.
[Evers, Kris; Van der Hallen, Ruth; Boets, Bart] Katholieke Univ Leuven, Dept Child Psychiat, Univ Psychiat Ctr, B-3000 Leuven, Belgium.
[Van Eylen, Lien] Katholieke Univ Leuven, Leuven Autism Res & Parenting, B-3000 Leuven, Belgium.
[Van Eylen, Lien] Katholieke Univ Leuven, Special Educ Res Unit, B-3000 Leuven, Belgium.
[Boets, Bart; Wagemans, Johan] Katholieke Univ Leuven, Leuven Autism Res, B-3000 Leuven, Belgium.
RP Van de Cruys, S (reprint author), Katholieke Univ Leuven, Expt Psychol Lab, Tiensestr 102, B-3000 Leuven, Belgium.
EM sander.vandecruys@ppw.kuleuven.be
RI Van de Cruys, Sander/F-8996-2015
OI Van de Cruys, Sander/0000-0003-4831-7800
FU Flemish Government [METH/08/02]
FX This research was supported by a Methusalem grant by the Flemish
Government (METH/08/02) to Johan Wagemans. We are incredibly grateful to
John Brock, Floris de Lange, Vebjorn Ekroll, Marie Gomot, Jakob Hohwy,
Ilona Kovacs, Laurent Mottron, Colin Palmer, Jean Steyaert, Jeroen van
Boxtel, Peter van der Helm, and Raymond van Ee for support and
invaluable feedback on a draft of this paper and to our colleagues from
Leuven Autism Research for many interdisciplinary discussions.
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NR 291
TC 4
Z9 4
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0033-295X
EI 1939-1471
J9 PSYCHOL REV
JI Psychol. Rev.
PD OCT
PY 2014
VL 121
IS 4
BP 649
EP 675
DI 10.1037/a0037665
PG 27
WC Psychology; Psychology, Multidisciplinary
SC Psychology
GA AS6ED
UT WOS:000344356500004
PM 25347312
ER
PT J
AU Brooks, SS
Wall, AL
Golzio, C
Reid, DW
Kondyles, A
Willer, JR
Botti, C
Nicchitta, CV
Katsanis, N
Davis, EE
AF Brooks, Susan S.
Wall, Alissa L.
Golzio, Christelle
Reid, David W.
Kondyles, Amalia
Willer, Jason R.
Botti, Christina
Nicchitta, Christopher V.
Katsanis, Nicholas
Davis, Erica E.
TI A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts
Neurodevelopment and Causes X-Linked Microcephaly in Humans
SO GENETICS
LA English
DT Article
DE X-linked; microcephaly; zebrafish; ribosome; translational elongation
ID DIAMOND-BLACKFAN ANEMIA; DOMINANT RETINITIS-PIGMENTOSA; COPY-NUMBER
VARIANT; PROTEIN GENE RPL10; INTELLECTUAL DISABILITY;
MENTAL-RETARDATION; MUTATIONS; AUTISM; SUBUNIT; DISEASE
AB Neurodevelopmental defects in humans represent a clinically heterogeneous group of disorders. Here, we report the genetic and functional dissection of a multigenerational pedigree with an X-linked syndromic disorder hallmarked by microcephaly, growth retardation, and seizures. Using an X-linked intellectual disability (XLID) next-generation sequencing diagnostic panel, we identified a novel missense mutation in the gene encoding 60S ribosomal protein L10 (RPL10), a locus associated previously with autism spectrum disorders (ASD); the p.K78E change segregated with disease under an X-linked recessive paradigm while, consistent with causality, carrier females exhibited skewed X inactivation. To examine the functional consequences of the p.K78E change, we modeled RPL10 dysfunction in zebrafish. We show that endogenous rpl10 expression is augmented in anterior structures, and that suppression decreases head size in developing morphant embryos, concomitant with reduced bulk translation and increased apoptosis in the brain. Subsequently, using in vivo complementation, we demonstrate that p.K78E is a loss-of-function variant. Together, our findings suggest that a mutation within the conserved N-terminal end of RPL10, a protein in close proximity to the peptidyl transferase active site of the 60S ribosomal subunit, causes severe defects in brain formation and function.
C1 [Brooks, Susan S.; Botti, Christina] Univ Med & Dent New Jersey, Rutgers Biomed & Hlth Sci, Dept Pediat, New Brunswick, NJ 08901 USA.
[Wall, Alissa L.; Golzio, Christelle; Kondyles, Amalia; Willer, Jason R.; Katsanis, Nicholas; Davis, Erica E.] Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27710 USA.
[Reid, David W.; Nicchitta, Christopher V.] Duke Univ, Med Ctr, Dept Biochem, Durham, NC 27710 USA.
[Nicchitta, Christopher V.] Duke Univ, Med Ctr, Dept Cell Biol, Durham, NC 27710 USA.
RP Davis, EE (reprint author), Duke Univ, Med Ctr, Box 3709, Durham, NC 27710 USA.
EM erica.davis@duke.edu
FU Duke University Undergraduate Research Support Office; National Alliance
for Research on Schizophrenia and Depression (NARSAD) Young Investigator
Grant from the Brain and Behavior Research Foundation; National
Institutes of Health (NIH) [GM101533]; Simons Foundation Autism Research
Initiative [239983]; NIH [P50MH094268]
FX We are grateful to the family in our study for their encouragement and
support of our work. We acknowledge Dustin Dowless for technical
assistance. This work was supported by funding from the Duke University
Undergraduate Research Support Office (to A. L. W.), a National Alliance
for Research on Schizophrenia and Depression (NARSAD) Young Investigator
Grant from the Brain and Behavior Research Foundation (to C. G.),
National Institutes of Health (NIH) grant GM101533 (to C.V.N.), and the
Simons Foundation Autism Research Initiative grant 239983 and NIH grant
P50MH094268 (to N.K.). N.K. is a Distinguished George W. Brumley
Professor.
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NR 43
TC 4
Z9 5
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 0016-6731
EI 1943-2631
J9 GENETICS
JI Genetics
PD OCT
PY 2014
VL 198
IS 2
BP 723
EP U358
DI 10.1534/genetics.114.168211
PG 19
WC Genetics & Heredity
SC Genetics & Heredity
GA AR9HX
UT WOS:000343885300030
PM 25316788
ER
PT J
AU Oz, S
Kapitansky, O
Ivashco-Pachima, Y
Malishkevich, A
Giladi, E
Skalka, N
Rosin-Arbesfeld, R
Mittelman, L
Segev, O
Hirsch, JA
Gozes, I
AF Oz, S.
Kapitansky, O.
Ivashco-Pachima, Y.
Malishkevich, A.
Giladi, E.
Skalka, N.
Rosin-Arbesfeld, R.
Mittelman, L.
Segev, O.
Hirsch, J. A.
Gozes, I.
TI The NAP motif of activity-dependent neuroprotective protein (ADNP)
regulates dendritic spines through microtubule end binding proteins
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID REDUCES TAU HYPERPHOSPHORYLATION; CENTRAL-NERVOUS-SYSTEM; NMDA
RECEPTOR-ACTIVITY; ALZHEIMERS-DISEASE; MOUSE MODEL; NEURONAL
DIFFERENTIATION; PREFRONTAL CORTEX; UP-REGULATION; PEPTIDE; DAVUNETIDE
AB The NAP motif of activity-dependent neuroprotective protein (ADNP) enhanced memory scores in patients suffering from mild cognitive impairment and protected activities of daily living in schizophrenia patients, while fortifying microtubule (MT)-dependent axonal transport, in mice and flies. The question is how does NAP fortify MTs? Our sequence analysis identified the MT end-binding protein (EB1)-interacting motif SxIP (SIP, Ser-Ile-Pro) in ADNP/NAP and showed specific SxIP binding sites in all members of the EB protein family (EB1-3). Others found that EB1 enhancement of neurite outgrowth is attenuated by EB2, while EB3 interacts with postsynaptic density protein 95 (PSD-95) to modulate dendritic plasticity. Here, NAP increased PSD-95 expression in dendritic spines, which was inhibited by EB3 silencing. EB1 or EB3, but not EB2 silencing inhibited NAP-mediated cell protection, which reflected NAP binding specificity. NAPVSKIPQ (SxIP = SKIP), but not NAPVAAAAQ mimicked NAP activity. ADNP, essential for neuronal differentiation and brain formation in mouse, a member of the SWI/SNF chromatin remodeling complex and a major protein mutated in autism and deregulated in schizophrenia in men, showed similar EB interactions, which were enhanced by NAP treatment. The newly identified shared MT target of NAP/ADNP is directly implicated in synaptic plasticity, explaining the breadth and efficiency of neuroprotective/neurotrophic capacities.
C1 [Oz, S.; Kapitansky, O.; Ivashco-Pachima, Y.; Malishkevich, A.; Giladi, E.; Gozes, I.] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel.
[Skalka, N.; Rosin-Arbesfeld, R.] Tel Aviv Univ, Sackler Fac Med, Dept Anat, IL-69978 Tel Aviv, Israel.
[Mittelman, L.] Tel Aviv Univ, Sackler Fac Med, Dept Interdept Serv, IL-69978 Tel Aviv, Israel.
[Segev, O.; Hirsch, J. A.] Tel Aviv Univ, George Wise Fac Life Sci, Dept Biochem & Mol Biol, IL-69978 Tel Aviv, Israel.
[Segev, O.; Gozes, I.] Tel Aviv Univ, Sagol Sch Neurosci, IL-69978 Tel Aviv, Israel.
[Segev, O.; Gozes, I.] Tel Aviv Univ, Adams Super Ctr Brain Studies, IL-69978 Tel Aviv, Israel.
RP Gozes, I (reprint author), Tel Aviv Univ, Sackler Fac Med,Lily & Avraham Gildor Chair Inves, Adams Super Ctr Brain Studies,Dept Human Mol Gene, Sagol Sch Neurosci,Edersheim Levie Gitter fMRI In, Einstein St, IL-69978 Tel Aviv, Israel.
EM igozes@post.tau.ac.il
FU Allon Therapeutics Inc.; Oberfeld family; AMN Foundation; Adams family;
Joseph Sagol Scholarship for Brain Studies; Humboldt Award
FX We thank Dr Shmuel Mandel for his work on drebrin identification.
Initial studies were supported by Allon Therapeutics Inc., Joe and Grace
Alter, Barbara and Don Seal, and the Oberfeld family. Further studies
were supported by AMN Foundation and the Adams family (Montreal Circle
of Friends of Tel Aviv University). Y Ivashco-Pachima is supported by
the Joseph Sagol Scholarship for Brain Studies. These studies are in
partial fulfilment of the requirements for graduate work at the Dr.
Miriam and Sheldon G. Adelson Graduate School of Medicine, and at the
Sackler Faculty of Medicine at Tel Aviv University of Drs. S. Oz and N.
Skalka, Y. and O Kapitansky (M.Sc.), Y Ivashco-Pachima (Ph.D. studies)
and A Malishkevich (Ph.D. studies). Professor Gozes is the incumbent of
the Lily and Avraham Gildor Chair for the Investigation of Growth
Factors and the Head of the Adams Super Center for Brain Studies, the
Levie-Edersheim Gitter fMRI Institute and the Elton Laboratory for
Molecular Neuroendocrinology. Professor Gozes is currently a Humboldt
Award Recipient and a fellow at the Hanse-Wissenschftenkolleg, Germany.
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NR 75
TC 3
Z9 3
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 OCT
PY 2014
VL 19
IS 10
BP 1115
EP 1124
DI 10.1038/mp.2014.97
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZN
UT WOS:000343661700011
PM 25178163
ER
PT J
AU Mohn, JL
Alexander, J
Pirone, A
Palka, CD
Lee, SY
Mebane, L
Haydon, PG
Jacob, MH
AF Mohn, J. L.
Alexander, J.
Pirone, A.
Palka, C. D.
Lee, S-Y
Mebane, L.
Haydon, P. G.
Jacob, M. H.
TI Adenomatous polyposis coli protein deletion leads to cognitive and
autism-like disabilities
SO MOLECULAR PSYCHIATRY
LA English
DT Article
ID TUMOR-SUPPRESSOR APC; RARE DE-NOVO; HIPPOCAMPAL-NEURONS; SPECTRUM
DISORDERS; CEREBRAL-CORTEX; BETA-CATENIN; INTRACHROMOSOMAL INSERTION;
INTERSTITIAL DELETION; SYNAPTIC-TRANSMISSION; MENTAL-RETARDATION
AB Intellectual disabilities (IDs) and autism spectrum disorders link to human APC inactivating gene mutations. However, little is known about adenomatous polyposis coli's (APC's) role in the mammalian brain. This study is the first direct test of the impact of APC loss on central synapses, cognition and behavior. Using our newly generated APC conditional knock-out (cKO) mouse, we show that deletion of this single gene in forebrain neurons leads to a multisyndromic neurodevelopmental disorder. APC cKO mice, compared with wild-type littermates, exhibit learning and memory impairments, and autistic-like behaviors (increased repetitive behaviors, reduced social interest). To begin to elucidate neuronal changes caused by APC loss, we focused on the hippocampus, a key brain region for cognitive function. APC cKO mice display increased synaptic spine density, and altered synaptic function (increased frequency of miniature excitatory synaptic currents, modestly enhanced long-term potentiation). In addition, we found excessive beta-catenin levels and associated changes in canonical Wnt target gene expression and N-cadherin synaptic adhesion complexes, including reduced levels of presenilin1. Our findings identify some novel functional and molecular changes not observed previously in other genetic mutant mouse models of co-morbid cognitive and autistic-like disabilities. This work thereby has important implications for potential therapeutic targets and the impact of their modulation. We provide new insights into molecular perturbations and cell types that are relevant to human ID and autism. In addition, our data elucidate a novel role for APC in the mammalian brain as a hub that links to and regulates synaptic adhesion and signal transduction pathways critical for normal cognition and behavior.
C1 [Mohn, J. L.; Alexander, J.; Pirone, A.; Palka, C. D.; Lee, S-Y; Mebane, L.; Haydon, P. G.; Jacob, M. H.] Tufts Univ, Sch Med, Sackler Biomed Grad Sch, Dept Neurosci, Boston, MA 02111 USA.
RP Jacob, MH (reprint author), Tufts Univ, Sch Med, Sackler Biomed Grad Sch, Dept Neurosci, 136 Harrison Ave,Stearns 327, Boston, MA 02111 USA.
EM Michele.Jacob@Tufts.edu
FU NIH [NINDS NS21725, NIDCD DC008802, NINDS T32-NS061764]; Tufts Center
for Neuroscience Research [NINDS P30 NS047243]
FX This research was funded by NIH grants NINDS NS21725 and NIDCD DC008802
(to MHJ), NINDS T32-NS061764 trainee support (to JA), and the Tufts
Center for Neuroscience Research NINDS P30 NS047243 (to FRJ). We thank K
Miczek, I Quadros, J Newman, K Maguschak, L Reijmers, M Rios and members
of the Jacob laboratory for helpful discussions, R Walikonis for
generously taking time to instruct us in the preparation of postsynaptic
density fractions, and S Sinha and K Chin for assistance with some
preliminary experiments.
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NR 75
TC 0
Z9 0
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 OCT
PY 2014
VL 19
IS 10
BP 1133
EP 1142
DI 10.1038/mp.2014.61
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AR5ZN
UT WOS:000343661700013
PM 24934177
ER
PT J
AU Pena, M
Arias, D
Dehaene-Lambertz, G
AF Pena, Marcela
Arias, Diana
Dehaene-Lambertz, Ghislaine
TI Gaze Following Is Accelerated in Healthy Preterm Infants
SO PSYCHOLOGICAL SCIENCE
LA English
DT Article
DE gaze following; facial expression; emotion; premature; experience;
social ability
ID BIOLOGICAL MOTION; LANGUAGE-ACQUISITION; VISUAL-ATTENTION; JOINT
ATTENTION; FULL-TERM; PREMATURE; AUTISM; CORTEX; EYE; AGE
AB Gaze following is an essential human communication cue that orients the attention of two interacting people to the same external object. This capability is robustly observed after 7 months of age in full-term infants. Do healthy preterm infants benefit from their early exposure to face-to-face interactions with other humans to acquire this capacity sooner than full-term infants of the same chronological age, despite their immature brains? In two different experiments, we demonstrated that 7-month-old preterm infants performed like 7-month-old full-term infants (with whom they shared the same chronological age) and not like 4-month-old full-term infants (with whom they shared the same postmenstrual age). The duration of exposure to visual experience thus appears to have a greater impact on the development of early gaze following than does postmenstrual age.
C1 [Pena, Marcela; Arias, Diana] Pontificia Univ Catolica Chile, Lab Neurociencias Cognit, Escuela Psicol, Macul, Santiago De Chi, Chile.
[Dehaene-Lambertz, Ghislaine] INSERM, U992, Cognit Neuroimaging Unit, Gif Sur Yvette, France.
[Dehaene-Lambertz, Ghislaine] Commissariat Energie Atom, DSV I2BM, NeuroSpin Ctr, Gif Sur Yvette, France.
[Dehaene-Lambertz, Ghislaine] Univ Paris 11, Cognit Neuroimaging Unit, Paris, France.
RP Pena, M (reprint author), Pontificia Univ Catolica Chile, Lab Neurociencias Cognit, Ave Vicuna Mackenna 4860, Macul, Santiago De Chi, Chile.
EM mpenag@uc.cl
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NR 38
TC 0
Z9 0
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 OCT
PY 2014
VL 25
IS 10
BP 1884
EP 1892
DI 10.1177/0956797614544307
PG 9
WC Psychology, Multidisciplinary
SC Psychology
GA AR8YX
UT WOS:000343858200005
PM 25125427
ER
PT J
AU Figura, MG
Coppola, A
Bottitta, M
Calabrese, G
Grillo, L
Luciano, D
Del Gaudio, L
Torniero, C
Striano, S
Elia, M
AF Figura, Maria Grazia
Coppola, Antonietta
Bottitta, Maria
Calabrese, Giuseppe
Grillo, Lucia
Luciano, Daniela
Del Gaudio, Luigi
Torniero, Claudia
Striano, Salvatore
Elia, Maurizio
TI Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical
report of six Italian cases
SO SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
LA English
DT Article
DE 22q13.3 deletion syndrome; SHANK3; EEG; Seizures
ID CHROMOSOME 22Q13.3; AUTISM SPECTRUM; CEREBELLAR; EPILEPSY; SPEECH
AB Purpose: The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder characterized by hypotonia, severely impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features. Neurologic problems may include seizures of different types, such as febrile, generalized tonic-clonic, focal, and absence seizures. No peculiar EEG features have been associated with 22q13 deletion syndrome to date. In order to verify if a peculiar clinical and EEG pattern is present in 22q13.3 deletion syndrome, we studied six Italian patients with this chromosome abnormality.
Method: Array CGH analysis was carried out in the six subjects (1 male, 5 females, age range 11-30 years, median 19.5). They underwent a complete general and neurologic examinations. The EEG study consisted of at least one awake and one nap-sleep video-EEG recordings and evaluation of other EEGs performed elsewhere.
Results: Three subjects suffered from myoclonic or generalized tonic-clonic seizures with a rather benign course; all showed multifocal paroxysmal abnormalities on EEG recording, predominant over the frontal-temporal regions, activated during sleep.
Conclusion: 22q13.3 deletion syndrome seems to be associated, at least in a subgroup of patients, with a peculiar clinical and EEG pattern, characterized by a childhood epilepsy with a rather benign evolution and with multifocal paroxysmal EEG abnormalities activated by sleep. (c) 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
C1 [Figura, Maria Grazia; Bottitta, Maria; Calabrese, Giuseppe; Elia, Maurizio] Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Unit Neurol & Clin Neurophysiopathol, I-94018 Troina, EN, Italy.
[Coppola, Antonietta; Del Gaudio, Luigi; Striano, Salvatore] Univ Naples Federico II, Epilepsy Ctr, Dept Neurol, Naples, Italy.
[Grillo, Lucia; Luciano, Daniela] Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Lab Genet Diag, I-94018 Troina, EN, Italy.
[Torniero, Claudia] Univ Padua, Dept Womens & Childrens Hlth, Padua, Italy.
RP Elia, M (reprint author), Oasi Inst Res Mental Retardat & Brain Aging IRCCS, Unit Neurol & Clin Neurophysiopathol, Via Conte Ruggero 73, I-94018 Troina, EN, Italy.
EM melia@oasi.en.it
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Wong M, 2013, NEUROSCIENCE, V251, P141, DOI 10.1016/j.neuroscience.2012.03.048
NR 27
TC 0
Z9 0
PU W B SAUNDERS CO LTD
PI LONDON
PA 32 JAMESTOWN RD, LONDON NW1 7BY, ENGLAND
SN 1059-1311
EI 1532-2688
J9 SEIZURE-EUR J EPILEP
JI Seizure
PD OCT
PY 2014
VL 23
IS 9
BP 774
EP 779
DI 10.1016/j.seizure.2014.06.008
PG 6
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AR8QH
UT WOS:000343839200017
PM 25027555
ER
PT J
AU Weeks, S
Grimmer, K
Boshoff, K
Stewart, H
AF Weeks, Scott
Grimmer, Karen
Boshoff, Kobie
Stewart, Hugh
TI Conducting robust intervention trials to address the sensory needs of
children with autism spectrum disorder: design challenges in an
Australian context
SO BRITISH JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE Autism spectrum disorder; sensory processing; sensory integration;
randomized controlled trial
ID OCCUPATIONAL-THERAPY; PEDRO; CARE
AB Many occupational therapists administer sensory interventions to address the needs of children with autism spectrum disorder. However, the current evidence regarding the effectiveness of sensory interventions is inconclusive, resulting in calls for more robust testing through randomized controlled trials. Our initial research plan was to conduct a randomized controlled trial that had real-world applications for occupational therapists and children diagnosed with autism spectrum disorder. However, as we conceptualized this study, we identified many uncertainties regarding the criteria required for a robust trial. In this opinion piece we describe and discuss the challenges we encountered when designing a community-clinic-based effectiveness study in an Australian context.
C1 [Weeks, Scott; Grimmer, Karen; Boshoff, Kobie; Stewart, Hugh] Univ S Australia, Int Ctr Allied Hlth Evidence iCAHE, Adelaide, SA 5001, Australia.
RP Weeks, S (reprint author), Univ S Australia, Int Ctr Allied Hlth Evidence iCAHE, GPO Box 2471, Adelaide, SA 5001, Australia.
EM scott.weeks@unisa.edu.au
RI Grimmer, Karen/F-3984-2013
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 18
TC 0
Z9 0
PU COLL OCCUPATIONAL THERAPISTS LTD
PI SOUTHWARK
PA 106-114 BOROUGH HIGH ST, SOUTHWARK, LONDON SE1 1LB, ENGLAND
SN 0308-0226
EI 1477-6006
J9 BRIT J OCCUP THER
JI Br. J. Occup. Ther.
PD OCT
PY 2014
VL 77
IS 10
BP 533
EP 535
DI 10.4276/030802214X14122630932557
PG 3
WC Rehabilitation
SC Rehabilitation
GA AR5IQ
UT WOS:000343619000010
ER
PT J
AU Haas, BW
Barnea-Goraly, N
Sheau, KE
Yamagata, B
Ullas, S
Reiss, AL
AF Haas, Brian W.
Barnea-Goraly, Naama
Sheau, Kristen E.
Yamagata, Bun
Ullas, Shruti
Reiss, Allan L.
TI Altered Microstructure Within Social-Cognitive Brain Networks During
Childhood in Williams Syndrome
SO CEREBRAL CORTEX
LA English
DT Article
DE DTI; genetics; social cognition; Williams syndrome
ID AUTISM SPECTRUM DISORDERS; DIFFUSION TENSOR TRACTOGRAPHY;
FRONTO-OCCIPITAL FASCICULUS; HUMAN ORBITOFRONTAL CORTEX; WHITE-MATTER
INTEGRITY; FRACTIONAL ANISOTROPY; IMAGING TRACTOGRAPHY; ATYPICAL
DEVELOPMENT; PROBABILISTIC ATLAS; ANATOMIC DISSECTION
AB Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of similar to 26-28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition.
C1 [Haas, Brian W.] Univ Georgia, Dept Psychol, Athens, GA 30602 USA.
[Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun; Reiss, Allan L.] Stanford Univ, Sch Med, CIBSR, Palo Alto, CA 94304 USA.
[Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
[Ullas, Shruti] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA.
[Reiss, Allan L.] Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA.
RP Haas, BW (reprint author), Univ Georgia, Dept Psychol, Athens, GA 30602 USA.
EM bhaas@uga.edu
FU Child Health Research Program, Stanford University School of Medicine,
Pediatric Research Fund Award; [T32 MH19908]
FX This study was supported by T32 MH19908 and by a Child Health Research
Program, Stanford University School of Medicine, Pediatric Research Fund
Award.
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NR 122
TC 2
Z9 3
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 OCT
PY 2014
VL 24
IS 10
BP 2796
EP 2806
DI 10.1093/cercor/bht135
PG 11
WC Neurosciences
SC Neurosciences & Neurology
GA AR2IT
UT WOS:000343408200024
PM 23709644
ER
PT J
AU Portfors, CV
Perkel, DJ
AF Portfors, Christine V.
Perkel, David J.
TI The role of ultrasonic vocalizations in mouse communication
SO CURRENT OPINION IN NEUROBIOLOGY
LA English
DT Article
ID MICE MUS-MUSCULUS; REDUCED SOCIAL-INTERACTION; FEMALE MICE; HOUSE MICE;
VOCAL COMMUNICATION; BEHAVIOR; RECOGNITION; AUTISM; MODEL; EXPERIENCE
AB Human speech and language underlie many aspects of social behavior and thus understanding their ultimate evolutionary function and proximate genetic and neural mechanisms is a fundamental goal in neuroscience. Mouse ultrasonic vocalizations have recently received enormous attention as possible models for human speech. This attention has raised the question of whether these vocalizations are learned and what roles they play in communication. In this review, we first discuss recent evidence that ultrasonic vocalizations are not learned. We then review current evidence addressing how adult vocalizations may communicate courtship, territorial and/or other information. While there is growing evidence that these signals play key roles in communication, many important questions remain unanswered.
C1 [Portfors, Christine V.] Washington State Univ, Sch Biol Sci, Vancouver, WA 98686 USA.
[Perkel, David J.] Univ Washington, Dept Biol, Seattle, WA 98195 USA.
[Perkel, David J.] Univ Washington, Dept Otolaryngol, Seattle, WA 98195 USA.
RP Portfors, CV (reprint author), Washington State Univ, Sch Biol Sci, Vancouver, WA 98686 USA.
EM Portfors@vancouver.wsu.edu
FU NSF IOS [1257768]; NIH [R01 MH066128]
FX This work was supported by NSF IOS 1257768 to CVP and NIH R01 MH066128
to DJP.
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NR 63
TC 3
Z9 3
PU CURRENT BIOLOGY LTD
PI LONDON
PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
SN 0959-4388
EI 1873-6882
J9 CURR OPIN NEUROBIOL
JI Curr. Opin. Neurobiol.
PD OCT
PY 2014
VL 28
BP 115
EP 120
DI 10.1016/j.conb.2014.07.002
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AR1RT
UT WOS:000343363000020
PM 25062471
ER
PT J
AU Mangerud, WL
Bjerkeset, O
Holmen, TL
Lydersen, S
Indredavik, MS
AF Mangerud, Wenche Langfjord
Bjerkeset, Ottar
Holmen, Turid Lingaas
Lydersen, Stian
Indredavik, Marit Saebo
TI Smoking, alcohol consumption, and drug use among adolescents with
psychiatric disorders compared with a population based sample
SO JOURNAL OF ADOLESCENCE
LA English
DT Article
DE Smoking; Alcohol; Drug use; Substance use; Mental disorders; Adolescent
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; SUBSTANCE USE; SOCIOECONOMIC-STATUS; MENTAL-HEALTH;
YOUNG-PEOPLE; ANXIETY DISORDERS; CIGARETTE-SMOKING; CANNABIS USE;
DEPENDENCE
AB This study investigated frequencies of smoking, alcohol use, and illicit drug use by diagnostic category in 566 adolescent psychiatric patients, comparing this sample with 8173 adolescents from the general population in Norway who completed the Young-HUNT 3 survey. Frequencies of current alcohol use were high in both samples but were lower among psychiatric patients. Compared with adolescents in the general population, adolescents in the clinical sample had a higher prevalence of current smoking and over four times higher odds of having tried illicit drugs. In the clinical sample, those with mood disorders reported the highest frequencies of smoking, alcohol use, and illicit drug use, whereas those with autism spectrum disorders reported the lowest frequencies. Our results show an increased prevalence of risky health behaviors among adolescents with psychiatric disorders compared with the general population. The awareness of disorder-specific patterns of smoking and substance use may guide preventive measures. (C) 2014 The Authors. Published by Elsevier Ltd on behalf of The Foundation for Professionals in Services for Adolescents. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
C1 [Mangerud, Wenche Langfjord; Lydersen, Stian; Indredavik, Marit Saebo] Norwegian Univ Sci & Technol, Reg Ctr Child & Youth Mental Hlth & Child Welf, Fac Med, MTFS, N-7491 Trondheim, Norway.
[Bjerkeset, Ottar] Nord Trandelag Univ Coll HiNT, Fac Hlth Sci, N-7601 Levanger, Norway.
[Bjerkeset, Ottar] Norwegian Univ Sci & Technol, Dept Neurosci, Fac Med, N-7489 Trondheim, Norway.
[Holmen, Turid Lingaas] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Fac Med, N-7600 Levanger, Norway.
[Indredavik, Marit Saebo] St Olavs Univ Hosp, Dept Child & Adolescent Psychiat, N-7433 Trondheim, Norway.
RP Mangerud, WL (reprint author), Norwegian Univ Sci & Technol, Reg Ctr Child & Youth Mental Hlth & Child Welf, Fac Med, MTFS, Pb 8905, N-7491 Trondheim, Norway.
EM wenche.l.mangerud@ntnu.no; ottar.bjerkeset@ntnu.no;
turid.lingaas.holmen@ntnu.no; stian.lydersen@ntnu.no;
marit.s.indredavik@ntnu.no
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Windle R, 2005, RECENT DEV ALCOHOLIS, V17
World Health Organisation, 1992, ICD 10 CLASS MENT BE
World Health Organization, 2011, WHO REP GLOB TOB EP
NR 58
TC 0
Z9 0
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 OCT
PY 2014
VL 37
IS 7
BP 1189
EP 1199
DI 10.1016/j.adolescence.2014.08.007
PG 11
WC Psychology, Developmental
SC Psychology
GA AR2AZ
UT WOS:000343387000024
PM 25190498
ER
PT J
AU Pisula, W
Pisula, E
AF Pisula, Wojciech
Pisula, Ewa
TI Autism prevalence and meat consumption - A hypothesis that needs to be
tested*
SO MEDICAL HYPOTHESES
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM; POPULATION; CHILDREN;
UPDATE; COHORT; UK
AB Prevalence of ASD seems to have increase in recent decades. There have been many attempts to find the responsible agent at various levels, from genetics to environmental factors. In this paper we draw attention to the possibility that one of the hidden agents spurring the rise in autism prevalence is to be identified within the industrial system of food production, particularly meat production with special emphasis on poultry meat. The paper presents some exploratory analyses demonstrating the correlation between particular aspects of meat consumption and autism prevalence. This initial exploration has lead to the hypothesis that industrial meat production - especially of poultry meat - may involve significant risk factors requiring thorough investigation. The main suspects seem to be hormonal and other growthpromoting agents
C1 [Pisula, Wojciech] Polish Acad Sci, Inst Psychol, Warsaw, Poland.
[Pisula, Ewa] Univ Warsaw, Fac Psychol, Warsaw, Poland.
RP Pisula, W (reprint author), Polish Acad Sci, Inst Psychol, Warsaw, Poland.
EM wojciech.pisula@wp.pl
FU National Science Center in Poland [UMO-2011/03/B/HS6/03326]
FX This paper was funded by the project of the National Science Center in
Poland, #UMO-2011/03/B/HS6/03326.
CR American Psychiatric Association, 2013, DSM 5
[Anonymous], 2002, MAN INT STAT CLASS D
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ZHOU SS, 2013, AUTISM RES TREAT, V2013, P12976
NR 25
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 OCT
PY 2014
VL 83
IS 4
BP 488
EP 493
DI 10.1016/j.mehy.2014.08.007
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AR1KR
UT WOS:000343344600011
PM 25169037
ER
PT J
AU Srivastava, S
Cohen, JS
Vernon, H
Baranano, K
McClellan, R
Jamal, L
Naidu, S
Fatemi, A
AF Srivastava, Siddharth
Cohen, Julie S.
Vernon, Hilary
Baranano, Kristin
McClellan, Rebecca
Jamal, Leila
Naidu, SakkuBai
Fatemi, Ali
TI Clinical Whole Exome Sequencing in Child Neurology Practice
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID DE-NOVO MUTATIONS; INTELLECTUAL DISABILITY; GENETIC EVALUATION;
DISORDERS; RECOMMENDATIONS; AUTISM
AB Objective: Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological discovery in neurodevelopmental disorders. To better characterize the genetic landscape of neurodevelopmental disorders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES.
Methods: We performed a retrospective cohort study on 78 patients with various neurodevelopmental disabilities and unrevealing workup prior to WES. We characterized their molecular diagnoses, clinical features, and whether their previous treatment plan changed due to WES results.
Results: The overall presumptive diagnostic rate for our cohort was 41% (n=32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, and 1 had both an AD and an AR disorder. The 32 patients with pathogenic or likely pathogenic variants exhibited various neurobehavioral and neuroimaging abnormalities, including intellectual disability/ developmental delay (n=28), cerebral palsy-like encephalopathy (n=11), autism spectrum disorder (n=5), delayed/ hypomyelination (n=7), and cerebellar abnormalities (n=9). The results of WES affected management for all patients with a presumptive diagnosis, triggering reproductive planning (n=27), disease monitoring initiation (n=4), investigation of systemic involvement of the disorder(s) (n=6), alteration of presumed disease inheritance pattern (n=7), changing of prognosis (n=10), medication discontinuation (n=5) or initiation (n=2), and clinical trial education (n=3).
Interpretation: The high diagnostic yield of WES supports its use in pediatric neurology practices. It may also lead to earlier diagnosis, impacting medical management, prognostication, and family planning. WES therefore serves as a critical tool for the child neurologist.
C1 [Srivastava, Siddharth; Cohen, Julie S.; Baranano, Kristin; McClellan, Rebecca; Jamal, Leila; Naidu, SakkuBai; Fatemi, Ali] Kennedy Krieger Inst, Hugo W Moser Res Inst, Dept Neurogenet, Baltimore, MD 21205 USA.
[Vernon, Hilary] McKusick Nathans Inst Genet Med, Baltimore, MD USA.
[Baranano, Kristin; Naidu, SakkuBai; Fatemi, Ali] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA.
[Naidu, SakkuBai; Fatemi, Ali] Johns Hopkins Sch Med, Dept Pediat, Baltimore, MD USA.
RP Fatemi, A (reprint author), Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway,Room 500i, Baltimore, MD 21205 USA.
EM fatemi@kennedykrieger.org
CR ACMG Board of Directors, 2013, GENET MED, V15, P748
ACMG Board of Directors, 2012, GENET MED, V14, P759, DOI DOI 10.1038/GIM.2012.74
Allen AS, 2013, NATURE, V501, P217, DOI 10.1038/nature12439
Atwal PS, 2014, GENET MED, DOI 10.1038
de Ligt J, 2012, NEW ENGL J MED, V367, P1921, DOI 10.1056/NEJMoa1206524
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Yu TW, 2013, NEURON, V77, P259, DOI 10.1016/j.neuron.2012.11.002
NR 23
TC 8
Z9 8
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 OCT
PY 2014
VL 76
IS 4
BP 473
EP 483
DI 10.1002/ana.24251
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400003
PM 25131622
ER
PT J
AU Torkamani, A
Bersell, K
Jorge, BS
Bjork, RL
Friedman, JR
Bloss, CS
Cohen, J
Gupta, S
Naidu, S
Vanoye, CG
George, AL
Kearney, JA
AF Torkamani, Ali
Bersell, Kevin
Jorge, Benjamin S.
Bjork, Robert L., Jr.
Friedman, Jennifer R.
Bloss, Cinnamon S.
Cohen, Julie
Gupta, Siddharth
Naidu, Sakkubai
Vanoye, Carlos G.
George, Alfred L., Jr.
Kearney, Jennifer A.
TI De Novo KCNB1 Mutations in Epileptic Encephalopathy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID NEOCORTICAL PYRAMIDAL NEURONS; DNA-SEQUENCING DATA; K+ CHANNEL;
POTASSIUM CHANNEL; INTELLECTUAL DISABILITY; GENETIC-VARIATION; ONSET
EPILEPSY; GENERATION; AUTISM; KV2.1
AB Objective: Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.
Methods: We searched for de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known etiology to determine the underlying cause using high-coverage whole exome sequencing (WES) and lower-coverage whole genome sequencing. Mutations in additional patients were identified by WES. The effect of mutations on protein function was assessed in a heterologous expression system.
Results: We identified a de novo missense mutation in KCNB1 that encodes the K(V)2.1 voltage-gated potassium channel. Functional studies demonstrated a deleterious effect of the mutation on K(V)2.1 function leading to a loss of ion selectivity and gain of a depolarizing inward cation conductance. Subsequently, we identified 2 additional patients with epileptic encephalopathy and de novo KCNB1 missense mutations that cause a similar pattern of K(V)2.1 dysfunction.
Interpretation: Our genetic and functional evidence demonstrate that KCNB1 mutation can result in early onset epileptic encephalopathy. This expands the locus heterogeneity associated with epileptic encephalopathies and suggests that clinical WES may be useful for diagnosis of epileptic encephalopathies of unknown etiology.
C1 [Torkamani, Ali; Bloss, Cinnamon S.] Scripps Hlth, Scripps Translat Sci Inst, San Diego, CA USA.
[Torkamani, Ali; Bloss, Cinnamon S.] Scripps Res Inst, San Diego, CA USA.
[Bersell, Kevin; George, Alfred L., Jr.] Vanderbilt Univ, Dept Pharmacol, Nashville, TN USA.
[Jorge, Benjamin S.] Vanderbilt Univ, Vanderbilt Brain Inst, Nashville, TN 37235 USA.
[Bjork, Robert L., Jr.] Scripps Hlth, Dept Pediat, San Diego, CA USA.
[Bjork, Robert L., Jr.] Sea Breeze Pediat, San Diego, CA USA.
[Friedman, Jennifer R.] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA.
[Friedman, Jennifer R.] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA.
[Cohen, Julie; Gupta, Siddharth; Naidu, Sakkubai] Kennedy Krieger Inst, Baltimore, MD USA.
[Gupta, Siddharth; Naidu, Sakkubai] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA.
[Vanoye, Carlos G.; George, Alfred L., Jr.; Kearney, Jennifer A.] Vanderbilt Univ, Dept Med, Nashville, TN USA.
[Vanoye, Carlos G.; George, Alfred L., Jr.; Kearney, Jennifer A.] Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA.
RP Kearney, JA (reprint author), Northwestern Univ, Dept Pharmacol, Searle 8-510,320 East Super St, Chicago, IL 60611 USA.
EM jennifer.kearney@northwestern.edu
FU Scripps Genomic Medicine, an NIH National Center for Advancing
Translational Sciences Clinical and Translational Science Award [5 UL1
RR025774]; Shaffer Family Foundation; Anne and Henry Zarrow Foundation;
NIH/NHGRI [U01 HG006476]; NIH/NINDS [R01 NS053792, R01 NS032387, F31
NS083097]
FX This work was supported by Scripps Genomic Medicine, an NIH National
Center for Advancing Translational Sciences Clinical and Translational
Science Award (5 UL1 RR025774) to Scripps Translational Science
Institute, as well as funding from the Shaffer Family Foundation and the
Anne and Henry Zarrow Foundation. Further support is from NIH/NHGRI U01
HG006476 (A.T.), NIH/NINDS R01 NS053792 (J.A.K.), NIH/NINDS R01 NS032387
(A.L.G.), and NIH/NINDS F31 NS083097 (B.S.J.).
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Carvill GL, 2013, NAT GENET, V45, P825, DOI 10.1038/ng.2646
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Rauch A, 2012, LANCET, V380, P1674, DOI 10.1016/S0140-6736(12)61480-9
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NR 39
TC 1
Z9 1
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 OCT
PY 2014
VL 76
IS 4
BP 529
EP 540
DI 10.1002/ana.24263
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400009
PM 25164438
ER
PT J
AU Pescosolido, MF
Stein, DM
Schmidt, M
El Achkar, CM
Sabbagh, M
Rogg, JM
Tantravahi, U
McLean, RL
Liu, JS
Poduri, A
Morrow, EM
AF Pescosolido, Matthew F.
Stein, David M.
Schmidt, Michael
El Achkar, Christelle Moufawad
Sabbagh, Mark
Rogg, Jeffrey M.
Tantravahi, Umadevi
McLean, Rebecca L.
Liu, Judy S.
Poduri, Annapurna
Morrow, Eric M.
TI Genetic and Phenotypic Diversity of NHE6 Mutations in Christianson
Syndrome
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; LINKED MENTAL-RETARDATION; ANGELMAN-LIKE
SYNDROME; WIDE ASSOCIATION SCAN; SLC9A6 GENE; SODIUM/PROTON EXCHANGER;
NA+/H+ EXCHANGER; NATURAL-HISTORY; EPILEPSY; FAMILIES
AB Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na+/H+ exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS.
Methods: Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in NHE6 were administered standardized research assessments, and mutations were characterized.
Results: The mutational spectrum was composed of 9 single nucleotide variants, 2 indels, and 1 copy number variation deletion. All mutations were protein-truncating or splicing mutations. We identified 2 recurrent mutations (c. 1498 c>t, p.R500X; and c. 1710 g>a, p.W570X). Otherwise, all mutations were unique. In our study, 7 of 12 mutations (58%) were de novo, in contrast to prior literature wherein mutations were largely inherited. We also report prominent neurological, medical, and behavioral symptoms. All CS participants were nonverbal and had intellectual disability, epilepsy, and ataxia. Many had prior diagnoses of autism and/or Angelman syndrome. Other neurologic symptoms included eye movement abnormalities (79%), postnatal microcephaly (92%), and magnetic resonance imaging evidence of cerebellar atrophy (33%). Regression was noted in 50%, with recurrent presentations involving loss of words and/ or the ability to walk. Medical symptoms, particularly gastrointestinal symptoms, were common. Height and body mass index measures were below normal ranges in most participants. Behavioral symptoms included hyperkinetic behavior (100%), and a majority exhibited high pain threshold.
Interpretation: This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy, and regression.
C1 [Pescosolido, Matthew F.; Stein, David M.; Schmidt, Michael; Sabbagh, Mark; Morrow, Eric M.] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; Stein, David M.; Schmidt, Michael; Sabbagh, Mark; Morrow, Eric M.] Brown Univ, Mol Med Lab, Inst Brain Sci, Providence, RI 02912 USA.
[Pescosolido, Matthew F.; McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Emma Pendleton Bradley Hosp, Dev Disorders Genet Res Program, East Providence, RI USA.
[Pescosolido, Matthew F.; McLean, Rebecca L.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, East Providence, RI USA.
[El Achkar, Christelle Moufawad; Poduri, Annapurna] Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Child Neurophysiol, Epilepsy Genet Program, Boston, MA USA.
[Rogg, Jeffrey M.] Brown Univ, Warren Alpert Med Sch, Dept Diagnost Imaging, Providence, RI 02912 USA.
[Tantravahi, Umadevi] Brown Univ, Warren Alpert Med Sch, Woman & Infants Hosp, Div Genet,Dept Pathol, Providence, RI 02912 USA.
[McLean, Rebecca L.] Brown Univ, Warren Alpert Med Sch, Mem Hosp Rhode Isl, Neurodev Ctr,Dept Pediat, Providence, RI 02912 USA.
[Liu, Judy S.] Childrens Natl Med Ctr, Ctr Neurosci Res, Washington, DC 20010 USA.
RP Morrow, EM (reprint author), Brown Univ, Mol Med Lab, 70 Ship St, Providence, RI 02912 USA.
EM eric_morrow@brown.edu
FU Burroughs Wellcome Fund; NIH National Institute of General Medical
Sciences [P20GM103645]; NIH [1RO1MH105442-01]; Simons Foundation (SFARI)
[239834]; Nancy Lurie Marks Foundation; Christianson Syndrome
Association
FX E.M.M. has received a Career Award in Medical Science from the Burroughs
Wellcome Fund and support from NIH National Institute of General Medical
Sciences P20GM103645. This work was supported by a grant from the NIH
(1RO1MH105442-01; EMM), Simons Foundation (SFARI #239834; E. M. M.), and
also generous support to E. M. M. from the Nancy Lurie Marks Foundation.
E. M. M. also received generous support from the newly formed
Christianson Syndrome Association to complete the writing of the
manuscript.
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World Health Organization, 2006, WHO CHILD GROWTH STA
NR 40
TC 0
Z9 0
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 OCT
PY 2014
VL 76
IS 4
BP 581
EP 593
DI 10.1002/ana.24225
PG 13
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ8FB
UT WOS:000343058400014
PM 25044251
ER
PT J
AU Shelton, JF
Geraghty, EM
Tancredi, DJ
Delwiche, LD
Schmidt, RJ
Ritz, B
Hansen, RL
Hertz-Picciotto, I
AF Shelton, Janie F.
Geraghty, Estella M.
Tancredi, Daniel J.
Delwiche, Lora D.
Schmidt, Rebecca J.
Ritz, Beate
Hansen, Robin L.
Hertz-Picciotto, Irva
TI Neurodevelopmental Disorders and Prenatal Residential Proximity to
Agricultural Pesticides: The CHARGE Study
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT Article
ID AUTISM DIAGNOSTIC INTERVIEW; MEXICAN-AMERICAN CHILDREN; PARAOXONASE PON1
STATUS; IN-UTERO EXPOSURE; ENVIRONMENTAL-FACTORS; CHLORPYRIFOS EXPOSURE;
GENE VARIANTS; CALIFORNIA; PREGNANCY; RISK
AB BACKGROUND: Gestational exposure to several common agricultural pesticides can induce developmental neurotoxicity in humans, and has been associated with developmental delay and autism.
OBJECTIVES: We evaluated whether residential proximity to agricultural pesticides during pregnancy is associated with autism spectrum disorders (ASD) or developmental delay (DD) in the Childhood Autism Risks from Genetics and Environment (CHARGE) study.
METHODS: The CHARGE study is a population-based case-control study of ASD, DD, and typical development. For 970 participants, commercial pesticide application data from the California Pesticide Use Report (1997-2008) were linked to the addresses during pregnancy. Pounds of active ingredient applied for organophophates, organochlorines, pyrethroids, and carbamates were aggregated within 1.25-km, 1.5-km, and 1.75-km buffer distances from the home. Multinomial logistic regression was used to estimate the odds ratio (OR) of exposure comparing confirmed cases of ASD (n = 486) or DD (n = 168) with typically developing referents (n = 316).
RESULTS: Approximately one-third of CHARGE study mothers lived, during pregnancy, within 1.5 km (just under 1 mile) of an agricultural pesticide application. Proximity to organophosphates at some point during gestation was associated with a 60% increased risk for ASD, higher for third-trimester exposures (OR = 2.0; 95% CI: 1.1, 3.6), and second-trimester chlorpyrifos applications (OR = 3.3; 95% CI: 1.5, 7.4). Children of mothers residing near pyrethroid insecticide applications just before conception or during third trimester were at greater risk for both ASD and DD, with ORs ranging from 1.7 to 2.3. Risk for DD was increased in those near carbamate applications, but no specific vulnerable period was identified.
CONCLUSIONS: This study of ASD strengthens the evidence linking neurodevelopmental disorders with gestational pesticide exposures, particularly organophosphates, and provides novel results of ASD and DD associations with, respectively, pyrethroids and carbamates.
C1 [Shelton, Janie F.; Delwiche, Lora D.; Schmidt, Rebecca J.; Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA.
[Geraghty, Estella M.] Univ Calif Davis, Sch Med, Div Gen Med, Sacramento, CA USA.
[Tancredi, Daniel J.; Hansen, Robin L.] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA USA.
[Tancredi, Daniel J.] Univ Calif Davis, Ctr Healthcare Policy & Res, Sch Med, Sacramento, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Epidemiol, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Environm Hlth Sci, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Neurol, Los Angeles, CA USA.
[Ritz, Beate] Univ Calif Los Angeles, Sch Med, Los Angeles, CA USA.
[Hansen, Robin L.; Hertz-Picciotto, Irva] UC Davis MIND Inst, Sacramento, CA USA.
RP Shelton, JF (reprint author), MS1C,One Shields Ave, Davis, CA 95616 USA.
EM janie.shelton@gmail.com
RI Ritz, Beate/E-3043-2015
FU National Institute of Environmental Health Sciences [R01 ES015359, P01
ES11269]; U.S. Environmental Protection Agency STAR [R829388, R833292];
UC Davis Division of Graduate Studies; UC Davis MIND (Medical
Investigation of Neurodevelopmental Disorders) Institute
FX This work was supported by grants from the National Institute of
Environmental Health Sciences (R01 ES015359, P01 ES11269), the U.S.
Environmental Protection Agency STAR (R829388 and R833292), the UC Davis
Division of Graduate Studies, and the UC Davis MIND (Medical
Investigation of Neurodevelopmental Disorders) Institute.
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NR 51
TC 8
Z9 8
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD OCT
PY 2014
VL 122
IS 10
BP 1103
EP 1109
DI 10.1289/ehp.1307044
PG 7
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AQ9BO
UT WOS:000343136200023
PM 24954055
ER
PT J
AU Ngo, L
Haas, M
Qu, ZD
Li, SS
Zenker, J
Teng, KSL
Gunnersen, JM
Breuss, M
Habgood, M
Keays, DA
Heng, JIT
AF Ngo, Linh
Haas, Matilda
Qu, Zhengdong
Li, Shan Shan
Zenker, Jennifer
Teng, Kathleen Sue Lyn
Gunnersen, Jenny Margaret
Breuss, Martin
Habgood, Mark
Keays, David Anthony
Heng, Julian Ik-Tsen
TI TUBB5 and its disease-associated mutations influence the terminal
differentiation and dendritic spine densities of cerebral cortical
neurons
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID MICROTUBULE-ASSOCIATED PROTEIN; AUTISM SPECTRUM DISORDERS; DE-NOVO
MUTATIONS; MIGRATION; GROWTH; DOUBLECORTIN; TUBA1A; MORPHOLOGY;
DYNAMICS; PATTERNS
AB The microtubule cytoskeleton is critical for the generation and maturation of neurons in the developing mammalian nervous system. We have previously shown that mutations in the beta-tubulin gene TUBB5cause microcephaly with structural brain abnormalities in humans. While it is known that TUBB5 is necessary for the proper generation and migration of neurons, little is understood of the role it plays in neuronal differentiation and connectivity. Here, we report that perturbations to TUBB5 disrupt the morphology of cortical neurons, their neuronal complexity, axonal outgrowth, as well as the density and shape of dendritic spines in the postnatal murine cortex. The features we describe are consistent with defects in synaptic signaling. Cellular-based assays have revealed that TUBB5 substitutions have the capacity to alter the dynamic properties and polymerization rates of the microtubule cytoskeleton. Together, our studies show that TUBB5 is essential for neuronal differentiation and dendritic spine formation in vivo, providing insight into the underlying cellular pathology associated with TUBB5 disease states.
C1 [Ngo, Linh; Haas, Matilda; Qu, Zhengdong; Li, Shan Shan; Zenker, Jennifer; Heng, Julian Ik-Tsen] Monash Univ, EMBL Australia, Australian Regenerat Med Inst, Clayton, Vic 3800, Australia.
[Breuss, Martin; Keays, David Anthony] Inst Mol Pathol, A-1030 Vienna, Austria.
[Teng, Kathleen Sue Lyn; Gunnersen, Jenny Margaret; Habgood, Mark] Univ Melbourne, Anat & Neurosci Dept, Parkville, Vic 3010, Australia.
[Gunnersen, Jenny Margaret] Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia.
RP Heng, JIT (reprint author), Monash Univ, EMBL Australia, Australian Regenerat Med Inst, Clayton, Vic 3800, Australia.
EM david.keays@imp.ac.at; julian.heng@monash.edu
FU State Government of Victoria; Australian Government; Boehringer
Ingelheim; FWF [P24367, P21092, I914]; NH&MRC Career Development
Fellowship [1011505]; Monash Senior Research Fellowship
FX The Australian Regenerative Medicine Institute is supported by grants
from the State Government of Victoria and the Australian Government.
D.A.K. acknowledges the generous support of Boehringer Ingelheim and the
following FWF grants (P24367, P21092 and I914). J.I.H. is supported by
an NH&MRC Career Development Fellowship (ID:1011505), as well as a
Monash Senior Research Fellowship.
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NR 41
TC 1
Z9 1
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 OCT 1
PY 2014
VL 23
IS 19
BP 5147
EP 5158
DI 10.1093/hmg/ddu238
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9OM
UT WOS:000343185200011
PM 24833723
ER
PT J
AU Rawat, RS
Juneja, R
Mehta, Y
Trehan, N
AF Rawat, Rajinder Singh
Juneja, Rajiv
Mehta, Yatin
Trehan, Naresh
TI Motor Stereotypy After Cardiac Surgery
SO JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
LA English
DT Article
DE motor stereotypy; cardiac surgery; anesthesia
ID NONAUTISTIC CHILDREN; DISORDERS; MOVEMENTS; MORPHINE; AUTISM; RATS
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EM yatinnzehta@hotmail.com
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NR 16
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 1053-0770
EI 1532-8422
J9 J CARDIOTHOR VASC AN
JI J. Cardiothorac. Vasc. Anesth.
PD OCT
PY 2014
VL 28
IS 5
BP 1323
EP 1325
DI 10.1053/j.jvca.2013.01.030
PG 3
WC Anesthesiology; Cardiac & Cardiovascular Systems; Respiratory System;
Peripheral Vascular Disease
SC Anesthesiology; Cardiovascular System & Cardiology; Respiratory System
GA AQ9PT
UT WOS:000343188500026
PM 23968771
ER
PT J
AU Solomon, R
Van Egeren, LA
Mahoney, G
Huber, MSQ
Zimmerman, P
AF Solomon, Richard
Van Egeren, Laurie A.
Mahoney, Gerald
Huber, Melissa S. Quon
Zimmerman, Perri
TI PLAY Project Home Consultation Intervention Program for Young Children
With Autism Spectrum Disorders: A Randomized Controlled Trial
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE developmental outcomes; early intervention; parent-mediated intervention
ID PERVASIVE DEVELOPMENTAL DISORDERS; PRESCHOOL-CHILDREN; JOINT ATTENTION;
BEHAVIOR; MODEL; CARE; TODDLERS; PARENTS; HEALTH
AB Objective: To evaluate the effectiveness of the Play and Language for Autistic Youngsters (PLAY) Project Home Consultation model, in combination with usual community services (CS), to improve parent-child interaction, child development, and autism symptomatology in young children with autism spectrum disorders (ASDs) compared with CS only. Methods: Children (N = 128) with autism or PDD-NOS (DSM-4 criteria) aged 2 years 8 months to 5 years 11 months and recruited from 5 disability agencies in 4 US states were randomized in two 1-year cohorts. Using videotape and written feedback within a developmental framework, PLAY consultants coached caregivers monthly for 12 months to improve caregiver-child interaction. CS included speech/language and occupational therapy and public education services. Primary outcomes included change in parent-child interactions, language and development, and autism-related diagnostic category/symptoms. Secondary outcomes included parent stress and depression and home consultant fidelity. Data were collected pre- and post-intervention. Results: Using intent-to-treat analysis (ITT), large treatment effects were evident for parent and child interactional behaviors on the Maternal and Child Behavior Rating Scales. Child language and developmental quotient did not differ over time by group, although functional development improved significantly. PLAY children improved in diagnostic categories on the Autism Diagnostic Observation Schedule (ADOS). PLAY caregivers' stress did not increase, and depressive symptomatology decreased. Home consultants administered the intervention with fidelity. Conclusions: PLAY intervention demonstrated substantial changes in parent-child interaction without increasing parents' stress/depression. ADOS findings must be interpreted cautiously because results do not align with clinical experience. PLAY offers communities a relatively inexpensive effective intervention for children with ASD and their parents.
C1 [Solomon, Richard; Zimmerman, Perri] Ann Arbor Ctr Dev & Behav Pediat, Ann Arbor, MI 48103 USA.
[Van Egeren, Laurie A.; Huber, Melissa S. Quon] Michigan State Univ, Off Univ Outreach & Engagement, E Lansing, MI 48824 USA.
[Mahoney, Gerald] Case Western Reserve Univ, Mandel Sch Appl Social Sci, Ctr Intervent Children & Families, Cleveland, OH 44106 USA.
RP Solomon, R (reprint author), Ann Arbor Ctr Dev & Behav Pediat, 2930 Parkridge Dr, Ann Arbor, MI 48103 USA.
EM dr.ricksol@comcast.net
FU National Institute of Mental Health (NIMH); Small Business Innovation
Research (SBIR) grant [2 R44 MH078431-02A1]
FX This investigation was supported by National Institute of Mental Health
(NIMH) and Small Business Innovation Research (SBIR) grant (grant# 2 R44
MH078431-02A1).
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NR 57
TC 3
Z9 3
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 475
EP 485
PG 11
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100001
PM 25264862
ER
PT J
AU Conelea, CA
Carter, AC
Freeman, JB
AF Conelea, Christine A.
Carter, Alice C.
Freeman, Jennifer B.
TI Sensory Over-Responsivity in a Sample of Children Seeking Treatment for
Anxiety
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE sensory; anxiety; obsessive-compulsive disorder; depression;
psychopathology
ID OBSESSIVE-COMPULSIVE DISORDER; YOUNG-CHILDREN; TYPICAL DEVELOPMENT;
RISK-FACTORS; VALIDATION; INVENTORY; SYMPTOMS; AUTISM; SYMPTOMATOLOGY;
DEFENSIVENESS
AB Objective: Sensory over-responsivity (SOR) refers to an exaggerated, intense, or prolonged behavioral response to ordinary sensory stimuli. The relationship of SOR to psychiatric disorders remains poorly understood. The current study examined the SOR construct within typically developing children with clinically significant anxiety, including the prevalence and course of SOR symptoms and relationship between SOR symptoms, demographic factors, and psychopathology. Method; Children presenting at an anxiety specialty clinic (n = 88) completed a psychiatric diagnostic assessment, which included parent-report measures of SOR, anxiety, obsessive-compulsive disorder (OCD), and global behavior and child-report measures of anxiety, depression, and OCD. Results: Sensory over-responsivity symptoms were very common: 93.2% were bothered by at least 1 tactile or auditory sensation, and the mean number of bothersome sensations was 9.2 (SD = 7.4). SOR symptoms were reported to be "moderately bothersome" on average and to onset at an early age. Sensory Over-Responsivity Inventory (SensOR) scores did not differ by psychiatric disorder diagnosis, but SensOR scores significantly correlated with measures of OCD and depression. Higher SensOR scores were associated with greater global impairment. Conclusion; A high rate of SOR symptom occurrence was observed in this sample of children seeking anxiety treatment, suggesting that SOR may not be entirely independent of anxiety and may be closely associated with OCD. Future research on the validity and nosology of SOR using psychiatric samples is warranted.
C1 [Conelea, Christine A.; Freeman, Jennifer B.] Brown Univ, Rhode Isl Hosp, Alpert Med Sch, Bradley Hasbro Childrens Res Ctr, Providence, RI 02903 USA.
[Carter, Alice C.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
RP Conelea, CA (reprint author), Bradley Hasbro Childrens Res Ctr, Coro West Suite 204,1 Hoppin St, Providence, RI 02903 USA.
EM christine_conelea@brown.edu
FU National Institute of Mental Health [F32MH095274]
FX Funding for this study was provided by a grant from the National
Institute of Mental Health (F32MH095274; PI [Removed for blind review]).
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NR 44
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 510
EP 521
PG 12
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100004
PM 25186122
ER
PT J
AU Zuckerman, KE
Sinche, B
Cobian, M
Cervantes, M
Mejia, A
Becker, T
Nicolaidis, C
AF Zuckerman, Katharine E.
Sinche, Brianna
Cobian, Martiza
Cervantes, Marlene
Mejia, Angie
Becker, Thomas
Nicolaidis, Christina
TI Conceptualization of Autism in the Latino Community and its Relationship
With Early Diagnosis
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE autism spectrum disorder; delayed diagnosis; Hispanic Americans; health
services accessibility; qualitative research
ID FAMILY-CENTERED CARE; HEALTH-CARE; SPECTRUM DISORDERS; ETHNIC
DISPARITIES; DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN;
IDENTIFICATION; HISPANICS; SERVICES
AB Objective: Early identification of autism spectrum disorders (ASD) has been linked to improved long-term developmental outcomes. However, Latino children are diagnosed later than white non-Latino children. We aimed to qualitatively assess the understanding and conceptualization of ASD in the Latino community to understand potential community barriers to early diagnosis. Methods: We conducted 5 focus groups and 4 qualitative interviews with 30 parents of typically developing Latino children in Oregon. Participants were asked structured questions concerning video vignettes that follow a Latina mother from the time she begins to worry about her 3-year-old son's behaviors to the time he receives an ASD diagnosis. Focus groups and interviews were audio-recorded, transcribed, and independently coded. Coded data were analyzed using thematic analysis. Results: Many Latino families in the study had not heard of ASD or had little information about it. Families sometimes assumed that ASD red flags were normal or could be attributed to family dysfunction. Families also had concerns about provider communication and access to language services. Having a child with a developmental delay was associated with embarrassment, rejection, and family burden, making it difficult for parents to raise developmental concerns with providers. Conclusions: Pediatric providers should not assume that Latino parents have heard of ASD or know its symptoms. Providers should be aware that parents may be reluctant to mention concerns because of cultural factors. The health care system needs to improve resources for Latino parents with limited English proficiency. Policies should encourage the use of developmental screening in primary care.
C1 [Zuckerman, Katharine E.; Sinche, Brianna; Cobian, Martiza; Cervantes, Marlene; Mejia, Angie] Oregon Hlth & Sci Univ, Div Gen Pediat, Portland, OR 97239 USA.
[Cobian, Martiza] Univ Pacific, Dept Psychol, Hillsboro, OR USA.
[Mejia, Angie] Syracuse Univ, Dept Sociol, Syracuse, NY USA.
[Becker, Thomas] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Internal Med & Geriatr, Portland, OR 97239 USA.
[Nicolaidis, Christina] Portland State Univ, Sch Social Work, Portland, OR 97207 USA.
RP Zuckerman, KE (reprint author), Oregon Hlth & Sci Univ, Mail Code CDRC P, 707 SW Gaines Rd, Portland, OR 97239 USA.
EM zuckerma@ohsu.edu
FU National Institute of Mental Health [1K23MH095828]
FX This study was supported by grant #1K23MH095828 from the National
Institute of Mental Health.
CR [Anonymous], 2003, UNEQUAL TREATMENT CO
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NR 34
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD OCT
PY 2014
VL 35
IS 8
BP 522
EP 532
PG 11
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AQ8JP
UT WOS:000343072100005
PM 25186120
ER
PT J
AU Provenzano, G
Pangrazzi, L
Poli, A
Pernigo, M
Sgado, P
Genovesi, S
Zunino, G
Berardi, N
Casarosa, S
Bozzi, Y
AF Provenzano, Giovanni
Pangrazzi, Luca
Poli, Andrea
Pernigo, Mattia
Sgado, Paola
Genovesi, Sacha
Zunino, Giulia
Berardi, Nicoletta
Casarosa, Simona
Bozzi, Yuri
TI Hippocampal Dysregulation of Neurofibromin-Dependent Pathways Is
Associated with Impaired Spatial Learning in Engrailed 2 Knock-Out Mice
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE autism; hippocampus; kinase; Morris water maze; neurodevelopmental
disorder; neurofibromatosis
ID AUTISM SPECTRUM DISORDERS; ACID-INDUCED SEIZURES; MUTANT MICE; MOUSE
MODEL; GABAERGIC NEURONS; EN-2 HOMEOBOX; DEFICITS; BEHAVIOR; TYPE-1;
BRAIN
AB Genome-wide association studies indicated the homeobox-containing transcription factor Engrailed-2 (En2) as a candidate gene for autism spectrum disorders (ASD). Accordingly, En2 knock-out (En2(-/-)) mice show anatomical and behavioral "ASD-like" features, including decreased sociability and learning deficits. The molecular pathways underlying these deficits in En2(-/-) mice are not known. Deficits in signaling pathways involving neurofibromin and extracellular-regulated kinase (ERK) have been associated with impaired learning. Here we investigated the neurofibromin-ERK cascade in the hippocampus of wild-type (WT) and En2(-/-) mice before and after spatial learning testing. When compared with WT littermates, En2(-/-) mice showed impaired performance in the Morris water maze (MWM), which was accompanied by lower expression of the activity-dependent gene Arc. Quantitative RT-PCR, immunoblotting, and immunohistochemistry experiments showed a marked downregulation of neurofibromin expression in the dentate gyrus of both naive and MWM-treated En2(-/-) mice. ERK phosphorylation, known to be induced in the presence of neurofibromin deficiency, was increased in the dentate gyrus of En2(-/-) mice after MWM. Treatment of En2(-/-) mice with lovastatin, an indirect inhibitor of ERK phosphorylation, markedly reduced ERK phosphorylation in the dentate gyrus, but was unable to rescue learning deficits in MWM-trained mutant mice. Further investigation is needed to unravel the complex molecular mechanisms linking dysregulation of neurofibromin-dependent pathways to spatial learning deficits in the En2 mouse model of ASD.
C1 [Provenzano, Giovanni; Pangrazzi, Luca; Pernigo, Mattia; Sgado, Paola; Genovesi, Sacha; Zunino, Giulia; Bozzi, Yuri] Univ Trent, Ctr Integrative Biol CIBIO, I-38123 Trento, Italy.
[Casarosa, Simona] Univ Trent, Ctr Integrative Biol CIBIO, Dev Neurobiol Lab, I-38123 Trento, Italy.
[Poli, Andrea; Berardi, Nicoletta; Casarosa, Simona; Bozzi, Yuri] Inst Neurosci, CNR, I-56124 Pisa, Italy.
[Berardi, Nicoletta] Univ Florence, Dept Neurosci & Psychol, I-50121 Florence, Italy.
RP Bozzi, Y (reprint author), Univ Trent, Ctr Integrative Biol CIBIO, Lab Mol Neuropathol, Via Regole 101, I-38123 Trento, Italy.
EM bozzi@science.unitn.it
FU Provincia Autonoma di Trento (Italy) under the European Community;
Italian Ministry of University and Research [200894SYW2_002,
2010N8PBAA_002]; University of Trento (CIBIO start-up grant)
FX P.S. is supported by Provincia Autonoma di Trento (Italy) under the
Marie Curie-People co-funding action of the European Community. This
work was funded by the Italian Ministry of University and Research (PRIN
2008 Grant 200894SYW2_002 and PRIN 2010-2011 Grant 2010N8PBAA_002 to
Y.B.) and the University of Trento (CIBIO start-up grant to S.C. and
Y.B.). We thank Dr. Patrizia D'Adamo (Dulbecco Telethon Institute,
Italy) for helpful comments.
CR Allegra M, 2014, FRONT CELL NEUROSCI, V8, DOI 10.3389/fncel.2014.00163
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NR 41
TC 1
Z9 1
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD OCT 1
PY 2014
VL 34
IS 40
BP 13281
EP 13288
DI 10.1523/JNEUROSCI.2894-13.2014
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AQ9CZ
UT WOS:000343141100003
PM 25274808
ER
PT J
AU Prontera, P
Napolioni, V
Ottaviani, V
Rogaia, D
Fusco, C
Augello, B
Serino, D
Parisi, V
Bernardini, L
Merla, G
Cavanna, AE
Donti, E
AF Prontera, Paolo
Napolioni, Valerio
Ottaviani, Valentina
Rogaia, Daniela
Fusco, Carmela
Augello, Bartolomeo
Serino, Domenico
Parisi, Valentina
Bernardini, Laura
Merla, Giuseppe
Cavanna, Andrea E.
Donti, Emilio
TI DPP6 gene disruption in a family with Gilles de la Tourette syndrome
SO NEUROGENETICS
LA English
DT Article
DE Tourette syndrome; DPP6 gene; 7q microdeletion; Haloperidol; Autism;
Attention-deficit and hyperactivity disorder
ID DISORDER; AUTISM; VARIANTS; DELETION; PSD-95
AB Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS still remains elusive. Herein, we investigated an Italian family where an 8-year-old boy, his father, and paternal uncle have a diagnosis of TS. Array-CGH and high resolution SNP-array analyses revealed a heterozygous microdeletion of similar to 135kb at the 7q36.2 locus in the proband and his father. Fluorescent in situ hybridization and quantitative PCR (qPCR) analyses confirmed the presence of the alteration also in the paternal uncle. The deletion selectively involves the first exon of the DPP6 gene, leading to a down-regulation of its expression, as demonstrated by the reduced messenger RNA (mRNA) levels assessed by RT-qPCR. The DPP6 gene encodes for a type II membrane glycoprotein expressed predominantly in the central nervous system. To date, a de novo DPP6 exonic duplication, of uncertain significance, was reported in one patient with TS. Moreover, the DPP6 gene has been implicated in the pathogenesis of autism spectrum disorder (ASD) and, notably, in haloperidol-induced dyskinesia. This first familial case provides evidence for association between DPP6 haploinsufficiency and TS, further suggesting a plausible molecular link between TS and ASD, and might shed some light on the efficacy and tolerability profiles of antidopaminergic agents used for tic management, thus prompting further studies on a larger cohort of patients.
C1 [Prontera, Paolo; Ottaviani, Valentina; Rogaia, Daniela; Donti, Emilio] Univ Perugia, Dept Surg & Biomed Sci, Med Genet Unit, Hosp SM della Misericordia, I-06123 Perugia, Italy.
[Napolioni, Valerio] Innovat Pole Genom Genet & Biol, Perugia, Italy.
[Fusco, Carmela; Augello, Bartolomeo; Merla, Giuseppe] IRCCS Casa Sollievo Sofferenza, Med Genet Unit, Foggia, Italy.
[Serino, Domenico] Hosp Bambino Gesu, Div Neurol, Rome, Italy.
[Parisi, Valentina; Bernardini, Laura] IRCSS Casa Sollievo Sofferenza Hosp, Mendel Lab, Foggia, Italy.
[Cavanna, Andrea E.] BSMHFT, Dept Neuropsychiat, Birmingham, W Midlands, England.
[Cavanna, Andrea E.] Univ Birmingham, Birmingham, W Midlands, England.
[Cavanna, Andrea E.] Aston Univ, Sch Life & Hlth Sci, Birmingham B4 7ET, W Midlands, England.
[Cavanna, Andrea E.] UCL, Sobell Dept Motor Neurosci & Movement Disorders, London, England.
[Cavanna, Andrea E.] Inst Neurol, London WC1N 3BG, England.
RP Prontera, P (reprint author), Univ Perugia, Dept Surg & Biomed Sci, Med Genet Unit, Hosp SM della Misericordia, Via E dal Pozzo, I-06123 Perugia, Italy.
EM pprontera@hotmail.com
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NR 24
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1364-6745
EI 1364-6753
J9 NEUROGENETICS
JI Neurogenetics
PD OCT
PY 2014
VL 15
IS 4
BP 237
EP 242
DI 10.1007/s10048-014-0418-9
PG 6
WC Genetics & Heredity; Clinical Neurology
SC Genetics & Heredity; Neurosciences & Neurology
GA AQ9ZX
UT WOS:000343221800003
PM 25129042
ER
PT J
AU Caligiore, D
Tommasino, P
Sperati, V
Baldassarre, G
AF Caligiore, Daniele
Tommasino, Paolo
Sperati, Valerio
Baldassarre, Gianluca
TI Modular and hierarchical brain organization to understand assimilation,
accommodation and their relation to autism in reaching tasks: a
developmental robotics hypothesis
SO ADAPTIVE BEHAVIOR
LA English
DT Article
DE Brain functional modularity; brain functional graph; Piaget; autism;
connectome; hierarchical reinforcement learning; mixture-of-experts
neural networks
ID BASAL GANGLIA; COMPUTATIONAL MODEL; ACTION SELECTION; SUBCORTICAL LOOPS;
MOTOR IMAGERY; CORTEX; SYSTEMS; MOVEMENTS; CIRCUITS; PIAGET
AB By assimilation children embody sensorimotor experiences into already built mental structures. Conversely, by accommodation these structures are changed according to the child's new experience. Despite the intuitive power of these concepts to trace the course of sensorimotor development, they have gradually lost ground in psychology. This likely due to the lack of brain-related views capturing the dynamic mechanisms underlying them. Here we propose that brain modular and hierarchical organization is crucial to understanding assimilation/accommodation. We devise an experiment where a bio-inspired modular and hierarchical mixture-of-experts model guides a simulated robot to learn different reaching tasks by trial-and-error. The model gives a novel interpretation of assimilation/accommodation based on the functional organization of the experts allocated through learning. Assimilation occurs when the model adapts a copy of the expert trained for solving a task, to face another task requiring similar sensorimotor mappings. Experts storing similar sensorimotor mappings belong to the same functional module. Accommodation occurs when the model uses non-trained experts to face tasks requiring different sensorimotor mappings (generating a new functional group of experts). The model also provides a new theoretical framework to investigate assimilation/accommodation impairment, and proposes that such impairment might be related to autism spectrum disorder.
C1 [Caligiore, Daniele; Sperati, Valerio; Baldassarre, Gianluca] CNR, Ist Sci & Tecnol Cogniz, Lab Computat Embodied Neurosci, Catania, Italy.
[Tommasino, Paolo] Nanyang Technol Univ, Sch Mech & Aerosp Engn, Singapore 639798, Singapore.
RP Caligiore, D (reprint author), Consiglio Nazl Ric LOCEN ISTC CNR, Lab Computat Embodied Neurosci, Ist Sci & Tecnol Cogniz, Via San Martino della Battaglia 44, I-00185 Rome, Italy.
EM daniele.caligiore@istc.cnr.it
FU European Commission [ICT-IP-231722]
FX This research received funds from the European Commission under the 7th
Framework Programme (FP7 2007-2013), ICT Challenge 2 Cognitive Systems
and Robotics, project IM-CLeVeR - Intrinsically Motivated Cumulative
Learning Versatile Robots (grant number ICT-IP-231722).
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NR 121
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1059-7123
EI 1741-2633
J9 ADAPT BEHAV
JI Adapt. Behav.
PD OCT
PY 2014
VL 22
IS 5
BP 304
EP 329
DI 10.1177/1059712314539710
PG 26
WC Computer Science, Artificial Intelligence; Psychology, Experimental;
Social Sciences, Interdisciplinary
SC Computer Science; Psychology; Social Sciences - Other Topics
GA AQ7FJ
UT WOS:000342977700002
ER
PT J
AU Mayer, EA
Padua, D
Tillisch, K
AF Mayer, Emeran A.
Padua, David
Tillisch, Kirsten
TI Altered brain-gut axis in autism: Comorbidity or causative mechanisms?
SO BIOESSAYS
LA English
DT Article
DE brain gut interactions; gut microbiome; intestinal permeability;
neurodevelopment disorder
ID SPECTRUM DISORDERS; NEURODEVELOPMENTAL DISORDERS; GASTROINTESTINAL
DISORDERS; INTESTINAL MICROBIOTA; DIETARY INTERVENTION; ANXIETY
DISORDERS; CHILDREN; METAANALYSIS; CLOSTRIDIA; BEHAVIOR
AB The concept that alterated communications between the gut microbiome and the brain may play an important role in human brain disorders has recently received considerable attention. This is the result of provocative preclinical and some clinical evidence supporting early hypotheses about such communication in health and disease. Gastrointestinal symptoms are a common comorbidity in patients with autism spectrum disorders (ASD), even though the underlying mechanisms are largely unknown. In addition, alteration in the composition and metabolic products of the gut microbiome has long been implicated as a possible causative mechanism contributing to ASD pathophysiology, and this hypothesis has been supported by several recently published evidence from rodent models of autism induced by prenatal insults to the mother. Recent evidence in one such model involving maternal infection, that is characterized by alterations in behavior, gut physiology, microbial composition, and related metabolite profile, suggests a possible benefit of probiotic treatment on several of the observed abnormal behaviors.
C1 [Mayer, Emeran A.; Padua, David; Tillisch, Kirsten] Univ Calif Los Angeles, David Geffen Sch Med, Div Digest Dis, Oppenheimer Ctr Neurobiol Stress, Los Angeles, CA 90095 USA.
RP Mayer, EA (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Div Digest Dis, Oppenheimer Ctr Neurobiol Stress, Los Angeles, CA 90095 USA.
EM emayer@ucla.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 51
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0265-9247
EI 1521-1878
J9 BIOESSAYS
JI Bioessays
PD OCT
PY 2014
VL 36
IS 10
BP 933
EP 939
DI 10.1002/bies.201400075
PG 7
WC Biochemistry & Molecular Biology; Biology
SC Biochemistry & Molecular Biology; Life Sciences & Biomedicine - Other
Topics
GA AQ6IP
UT WOS:000342914600005
PM 25145752
ER
PT J
AU Luo, M
Li, JX
Sun, XS
Lai, R
Wang, YF
Xu, XW
Sheng, WL
AF Luo, Man
Li, Jiao-Xing
Sun, Xun-Sha
Lai, Rong
Wang, Yu-Fang
Xu, Xiao-Wei
Sheng, Wen-Li
TI The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk
for Ischemic Stroke: A Case-Control Study
SO CNS NEUROSCIENCE & THERAPEUTICS
LA English
DT Article
DE Ischemic stroke; Large artery atherosclerosis; rs2208454; Single
nucleotide polymorphism; Stroke subtype
ID GENOME-WIDE ASSOCIATION; BRAIN INFARCTS; GENE; METAANALYSIS; DISEASE;
AUTISM; SCAN
AB Aim: A recent genome-wide association study identified a strong association of covert magnetic resonance imaging infarcts with the single nucleotide polymorphism (SNP) rs2208454. The aim of this study was to determine whether the rs2208454 polymorphism is associated with an increased risk for ischemic stroke (IS). Methods: Ischemic stroke patients (n = 712) and control subjects (n = 774) from a southern Chinese Han population were included. The snapshot technique was used for genotype analysis. Results: Compared with the GT+GG or GG genotype, the frequency of the TT genotype was significantly higher in IS than in controls. After adjusting for age, gender, family history of IS, hypertension history, and history of diabetes mellitus, a significant correlation between the TT genotype and IS persisted (TT vs. GT+GG: adjusted OR = 1.79, 95% CI: 1.16-2.77; TT vs. GG: adjusted OR = 1.88, 95% CI: 1.20-2.94). In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardio-embolism IS subtypes. Conclusions: Single nucleotide polymorphism rs2208454 confers an increased risk for IS in a southern Chinese Han population. When the IS subtype was examined, the effect of the SNP was restricted to LAA.
C1 [Luo, Man; Li, Jiao-Xing; Sun, Xun-Sha; Lai, Rong; Wang, Yu-Fang; Sheng, Wen-Li] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou 510080, Guangdong, Peoples R China.
[Luo, Man] Guangxi Med Univ, Affiliated Hosp 1, Dept Neurol, Nanning, Peoples R China.
[Xu, Xiao-Wei] Weifang Peoples Hosp, Dept Neurol, Weifang, Shandong, Peoples R China.
RP Sheng, WL (reprint author), Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou 510080, Guangdong, Peoples R China.
EM shengwl@mail.sysu.edu.cn
FU National Natural Science Foundation of China [81070912]; Guangxi Natural
Science Foundation [2013GXNSFBA019131]; Self-financing Science
Foundation of Guangxi Health Bureau [Z2012096]; Shandong Province
Excellent Young Scientist Research Award Fund [BS2012YY035]
FX This work was supported by the National Natural Science Foundation of
China (81070912), Guangxi Natural Science Foundation
(2013GXNSFBA019131), Self-financing Science Foundation of Guangxi Health
Bureau (#Z2012096), and Shandong Province Excellent Young Scientist
Research Award Fund (#BS2012YY035).
CR ADAMS HP, 1993, STROKE, V24, P35, DOI 10.1161/01.STR.24.1.35
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NR 15
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1755-5930
EI 1755-5949
J9 CNS NEUROSCI THER
JI CNS Neurosci. Ther.
PD OCT
PY 2014
VL 20
IS 10
BP 893
EP 897
DI 10.1111/cns.12298
PG 5
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AQ5CE
UT WOS:000342820000002
PM 24954375
ER
PT J
AU Desai, T
Chow, K
Mumford, L
Hotze, F
Chau, T
AF Desai, Tania
Chow, Katherine
Mumford, Leslie
Hotze, Fanny
Chau, Tom
TI Implementing an iPad-based alternative communication device for a
student with cerebral palsy and autism in the classroom via an access
technology delivery protocol
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Augmentative and alternative; communication; Childhood disability;
Access technology; Pediatric rehabilitation; iPad
ID SPECTRUM DISORDERS; CHILDREN; AAC; SKILLS; COLLABORATION; INDIVIDUALS;
CHALLENGES; TEACHERS; SYSTEM
AB Individuals with a comorbid diagnosis of cerebral palsy and autism spectrum disorder can have significant communication deficits. The implementation of an alternative and augmentative communication (AAC) device is often essential to promote language development and participation in school, home and community environments. The present study evaluated the impact of introducing a high-tech alternative and augmentative device, namely an Apple iPad with the "GoTalk Now" communication application to a student diagnosed with cerebral palsy and autism spectrum disorder. Integration of the technology focused on promoting key elements associated with long term AAC usage, namely, targeted training of the student, teacher, educational assistant and parents, over the course of the school year. Marked increases in the student's communication skills and non-academic school functioning were observed. The need for communication partner prompting declined over time while the student, teacher and parent remained engaged by the iPad solution. This case study supports the classroom implementation of high-tech communication devices for those with complex communication needs via a comprehensive access delivery protocol that invokes systematic student, teacher, educational assistant and parent training. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Desai, Tania; Chow, Katherine] Toronto Dist Sch Board, Toronto, ON, Canada.
[Mumford, Leslie; Hotze, Fanny] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON, Canada.
[Chau, Tom] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Inst Biomat & Biomed Engn, Bloorview Res Inst, Toronto, ON, Canada.
RP Chau, T (reprint author), Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Inst Biomat & Biomed Engn, Bloorview Res Inst, Toronto, ON, Canada.
EM tom.chau@utoronto.ca
FU Sunny View Youth Involvement Foundation; Holland Bloorview Kids
Rehabilitation Hospital Foundation
FX The authors would like to thank Elton, the school administration,
teacher, educational assistant, and family for participating in the
study. We also express our gratitude for the funding provided by the
Sunny View Youth Involvement Foundation, Holland Bloorview Kids
Rehabilitation Hospital Foundation and the student's school.
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NR 44
TC 1
Z9 1
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 OCT
PY 2014
VL 79
BP 148
EP 158
DI 10.1016/j.compedu.2014.07.009
PG 11
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA AQ5WU
UT WOS:000342880100012
ER
PT J
AU Engineer, CT
Centanni, TM
Im, KW
Borland, MS
Moreno, NA
Carraway, RS
Wilson, LG
Kilgard, MP
AF Engineer, C. T.
Centanni, T. M.
Im, K. W.
Borland, M. S.
Moreno, N. A.
Carraway, R. S.
Wilson, L. G.
Kilgard, M. P.
TI Degraded Auditory Processing in a Rat Model of Autism Limits the Speech
Representation in Non-Primary Auditory Cortex
SO DEVELOPMENTAL NEUROBIOLOGY
LA English
DT Article
DE speech; auditory cortex; autism; valproic acid; neurophysiology
ID ANTIEPILEPTIC DRUG EXPOSURE; FETAL VALPROATE SYNDROME; SCHOOL-AGED
CHILDREN; IN-UTERO EXPOSURE; ANIMAL-MODEL; DISCRIMINATION ABILITY;
ENVIRONMENTAL ENRICHMENT; BEHAVIORAL ALTERATIONS; SPECTRUM DISORDERS;
GAMMA OSCILLATIONS
AB Although individuals with autism are known to have significant communication problems, the cellular mechanisms responsible for impaired communication are poorly understood. Valproic acid (VPA) is an anticonvulsant that is a known risk factor for autism in prenatally exposed children. Prenatal VPA exposure in rats causes numerous neural and behavioral abnormalities that mimic autism. We predicted that VPA exposure may lead to auditory processing impairments which may contribute to the deficits in communication observed in individuals with autism. In this study, we document auditory cortex responses in rats prenatally exposed to VPA. We recorded local field potentials and multiunit responses to speech sounds in primary auditory cortex, anterior auditory field, ventral auditory field. and posterior auditory field in VPA exposed and control rats. Prenatal VPA exposure severely degrades the precise spatiotemporal patterns evoked by speech sounds in secondary, but not primary auditory cortex. This result parallels findings in humans and suggests that secondary auditory fields may be more sensitive to environmental disturbances and may provide insight into possible mechanisms related to auditory deficits in individuals with autism. (c) 2014 Wiley Periodicals, Inc.
C1 [Engineer, C. T.; Centanni, T. M.; Im, K. W.; Borland, M. S.; Moreno, N. A.; Carraway, R. S.; Wilson, L. G.; Kilgard, M. P.] Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
RP Engineer, CT (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci, Richardson, TX 75080 USA.
EM novitski@utdallas.edu
FU National Institutes of Health [R01DC010433]; American
Speech-Language-Hearing Foundation (Research Grant for New
Investigators)
FX Contract grant sponsor: National Institutes of Health; contract grant
number: R01DC010433.Contract grant sponsor: American
Speech-Language-Hearing Foundation (Research Grant for New
Investigators).
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NR 74
TC 5
Z9 6
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 OCT
PY 2014
VL 74
IS 10
BP 972
EP 986
DI 10.1002/dneu.22175
PG 15
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AQ5GW
UT WOS:000342836600002
PM 24639033
ER
PT J
AU Nandrino, JL
Gandolphe, MC
Alexandre, C
Kmiecik, E
Yguel, J
Urso, L
AF Nandrino, Jean-Louis
Gandolphe, Marie-Charlotte
Alexandre, Charlotte
Kmiecik, Elodie
Yguel, Jacques
Urso, Laurent
TI Cognitive and affective theory of mind abilities in alcohol-dependent
patients: The role of autobiographical memory
SO DRUG AND ALCOHOL DEPENDENCE
LA English
DT Article
DE Autobiographical memory; Theory of mind; Alcohol; Substance abuse;
Emotion; RMEt
ID EMOTIONAL FACIAL EXPRESSION; HIGH-FUNCTIONING AUTISM; LONG-TERM
ABSTINENCE; EPISODIC MEMORY; AUTONOETIC CONSCIOUSNESS; PREFRONTAL
CORTEX; ASPERGER-SYNDROME; COMPLEX EMOTIONS; NORMAL ADULTS; EYES TEST
AB Background: Many studies of patients with alcohol dependence (AD) have highlighted their difficulty in identifying both their own emotional state and those of a social partner. We examined (1) the cognitive and affective theory of mind (ToM) abilities of AD patients and (2) how the efficiency of their autobiographical memory (AM) can affect the effectiveness of ToM ability.
Method: In a cross-sectional design, AD patients (N = 50) and healthy controls (N = 30) completed a ToM movie paradigm (Versailles-Situational Intention Reading, V-SIR) in which they inferred the intentions of characters in movies depicting social interactions, and the "Reading the Mind in the Eyes" Test (RMET), which assessed the emotional dimension of the ToM. AM was investigated using the "Autobiographical Memory Interview" (AMI) to assess both episodic and semantic components of AM.
Results: Concerning ToM, patients with AD showed lower performance in the RMET than control participants, whereas no difference was observed on the V-SIR test. AD patients had lower scores than controls on the AMI, for both episodic and semantic components and for different periods of life. A multiple linear regression analysis also showed that AM deficits might predict lower ToM performance, especially for the RMET task.
Conclusions: Patients with AD have a specific affective ToM deficit. They used episodic memories to perceive the emotions of others, whereas controls used preferentially semantic memories to perform the task. Both these deficits could constitute a risk of relapse and should be a target for psychotherapeutic interventions. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Nandrino, Jean-Louis; Gandolphe, Marie-Charlotte; Alexandre, Charlotte; Kmiecik, Elodie] Univ Lille 3, URECA, EA 1059, Cognit & Affect Sci Lab, F-59653 Villeneuve Dascq, France.
[Nandrino, Jean-Louis] Fdn Sante Etud France, Clin Medicopsychol, Villeneuve Dascq, France.
[Yguel, Jacques] Ctr Hosp Avesnes Helpe, Serv Alcool, Avesnes Sur Helpe, France.
[Urso, Laurent] Ctr Hosp Roubaix, Serv Addictol, Roubaix, France.
RP Nandrino, JL (reprint author), Univ Lille 3, URECA EA 1059, Domaine Pont Bois, F-59653 Villeneuve Dascq, France.
EM jean-louis.nandrino@univ-lille3.fr
FU own funds of the University Lille 3; Cognitive and Affective Sciences
Laboratory (URECA)
FX Funding for the study was provided by the own funds of the University
Lille 3 and the Cognitive and Affective Sciences Laboratory (URECA).
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NR 61
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0376-8716
EI 1879-0046
J9 DRUG ALCOHOL DEPEN
JI Drug Alcohol Depend.
PD OCT 1
PY 2014
VL 143
BP 65
EP 73
DI 10.1016/j.drugalcdep.2014.07.010
PG 9
WC Substance Abuse; Psychiatry
SC Substance Abuse; Psychiatry
GA AQ5TI
UT WOS:000342871100009
PM 25107313
ER
PT J
AU Hollin, G
AF Hollin, Gregory
TI Constructing a social subject: Autism and human sociality in the 1980s
SO HISTORY OF THE HUMAN SCIENCES
LA English
DT Article
DE autism; cognitive psychology; Michel Foucault; sociality; theory of mind
ID EXECUTIVE FUNCTION; MIND; CHILDREN; PSYCHOLOGY; REPRESENTATION;
PERSPECTIVE; PREVALENCE; KNOWLEDGE; STORIES; HISTORY
AB This article examines three key aetiological theories of autism (meta-representations, executive dysfunction and weak central coherence), which emerged within cognitive psychology in the latter half of the 1980s. Drawing upon Foucault's notion of forms of possible knowledge', and in particular his concept of savoir or depth knowledge, two key claims are made. First, it is argued that a particular production of autism became available to questions of truth and falsity following a radical reconstruction of the social' in which human sociality was taken both to exclusively concern interpersonal interaction and to be continuous with non-social cognition. Second, it is suggested that this reconstruction of the social has affected the contemporary cultural experience of autism, shifting attention towards previously unacknowledged cognitive aspects of the condition. The article concludes by situating these claims in relation to other historical accounts of the emergence of autism and ongoing debates surrounding changing articulations of social action in the psy disciplines.
C1 Univ Nottingham, Inst Sci & Soc, Sch Sociol & Social Policy, Nottingham NG7 2RD, England.
RP Hollin, G (reprint author), Univ Nottingham, Inst Sci & Soc, Sch Sociol & Social Policy, Law & Social Sci Bldg,Univ Pk, Nottingham NG7 2RD, England.
EM gregory.hollin@nottingham.ac.uk
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NR 86
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0952-6951
EI 1461-720X
J9 HIST HUM SCI
JI Hist. Hum. Sci.
PD OCT
PY 2014
VL 27
IS 4
BP 98
EP 115
DI 10.1177/0952695114528189
PG 18
WC History & Philosophy Of Science; History Of Social Sciences
SC History & Philosophy of Science; Social Sciences - Other Topics
GA AQ5EG
UT WOS:000342828300005
ER
PT J
AU Iwanami, A
Okajima, Y
Ota, H
Tani, M
Yamada, T
Yamagata, B
Hashimoto, R
Kanai, C
Takashio, O
Inamoto, A
Ono, T
Takayama, Y
Kato, N
AF Iwanami, Akira
Okajima, Yuka
Ota, Haruhisa
Tani, Masayuki
Yamada, Takashi
Yamagata, Bun
Hashimoto, Ryuichiro
Kanai, Chieko
Takashio, Osamu
Inamoto, Atsuko
Ono, Taisei
Takayama, Yukiko
Kato, Nobumasa
TI P300 Component of Event-Related Potentials in Persons With Asperger
Disorder
SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Asperger disorder; PDD; ERP; P300; P3a; P3b
ID PERVASIVE DEVELOPMENTAL DISORDERS; EXECUTIVE FUNCTION DEFICITS;
AUDITORY-EVOKED POTENTIALS; AUTISM SPECTRUM DISORDERS; JAPANESE VERSION;
FUNCTIONAL MRI; QUOTIENT AQ; ABNORMALITIES; ATTENTION; CHILDREN
AB In the present study, we investigated auditory event-related potentials in adults with Asperger disorder and normal controls using an auditory oddball task and a novelty oddball task. Task performance and the latencies of P300 evoked by both target and novel stimuli in the two tasks did not differ between the two groups. Analysis of variance revealed that there was a significant interaction effect between group and electrode site on the mean amplitude of the P300 evoked by novel stimuli, which indicated that there was an altered distribution of the P300 in persons with Asperger disorder. In contrast, there was no significant interaction effect on the mean P300 amplitude elicited by target stimuli. Considering that P300 comprises two main subcomponents, frontal-central-dominant P3a and parietal-dominant P3b, our results suggested that persons with Asperger disorder have enhanced amplitude of P3a, which indicated activated prefrontal function in this task.
C1 [Iwanami, Akira; Okajima, Yuka; Ota, Haruhisa; Tani, Masayuki; Yamada, Takashi; Yamagata, Bun; Takashio, Osamu; Inamoto, Atsuko; Ono, Taisei; Takayama, Yukiko; Kato, Nobumasa] Showa Univ, Sch Med, Dept Psychiat, Tokyo 1578577, Japan.
[Hashimoto, Ryuichiro] Tokyo Metropolitan Univ, Dept Language Sci, Tokyo 158, Japan.
[Kanai, Chieko] Sagami Womens Univ, Fac Arts & Sci, Dept Educ & Child Studies, Sagamihara, Kanagawa, Japan.
RP Iwanami, A (reprint author), Showa Univ, Sch Med, Dept Psychiat, Setagaya Ku, 6-11-11 Kitakarasuyama, Tokyo 1578577, Japan.
EM iwanami@med.showa-u.ac.jp
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NR 51
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0736-0258
EI 1537-1603
J9 J CLIN NEUROPHYSIOL
JI J. Clin. Neurophysiol.
PD OCT
PY 2014
VL 31
IS 5
BP 493
EP 499
DI 10.1097/WNP.0000000000000080
PG 7
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ6CC
UT WOS:000342894400018
PM 25271690
ER
PT J
AU Matic, K
Eninger, T
Bardoni, B
Davidovic, L
Macek, B
AF Matic, Katarina
Eninger, Timo
Bardoni, Barbara
Davidovic, Laetitia
Macek, Boris
TI Quantitative Phosphoproteomics of Murine Fmr1-KO Cell Lines Provides New
Insights into FMRP-Dependent Signal Transduction Mechanisms
SO JOURNAL OF PROTEOME RESEARCH
LA English
DT Article
DE fragile X syndrome; autism; phosphoproteomics; FMRP; FMR1; MEF
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN;
SYNDROME MOUSE MODEL; DNA-DAMAGE RESPONSE; MESSENGER-RNA; PRION PROTEIN;
SPECTRUM DISORDERS; KNOCKOUT MICE; G-QUADRUPLEX
AB Fragile X mental retardation protein (FMRP) is an RNA-binding protein that has a major effect on neuronal protein synthesis. Transcriptional silencing of the FMR1 gene leads to loss of FMRP and development of Fragile X syndrome (FXS), the most common known hereditary cause of intellectual impairment and autism. Here we utilize SILAC-based quantitative phosphoproteomics to analyze murine FMR1(-) and FMR1(+) fibroblastic cell lines derived from FMR1-KO embryos to identify proteins and phosphorylation sites dysregulated as a consequence of FMRP loss. We quantify FMRP-related changes in the levels of 5,023 proteins and 6,133 phosphorylation events and map them onto major signal transduction pathways. Our study confirms global downregulation of the MAPK/ERK pathway and decrease in phosphorylation level of ERK1/2 in the absence of FMRP, which is connected to attenuation of long-term potentiation. We detect differential expression of several key proteins from the p53 pathway, pointing to the involvement of p53 signaling in dysregulated cell cycle control in FXS. Finally, we detect differential expression and phosphorylation of proteins involved in pre-mRNA processing and nuclear transport, as well as Wnt and calcium signaling, such as PLC, PKC, NFAT, and cPLA2. We postulate that calcium homeostasis is likely affected in molecular pathogenesis of FXS.
C1 [Matic, Katarina; Eninger, Timo; Macek, Boris] Univ Tubingen, Proteome Ctr Tubingen, D-72074 Tubingen, Germany.
[Matic, Katarina] Univ Tubingen, Grad Sch Cellular & Mol Neurosci, D-72074 Tubingen, Germany.
[Bardoni, Barbara; Davidovic, Laetitia] CNRS, Inst Pharmacol Mol & Cellulaire, UMR 7275, F-06560 Valbonne, France.
[Bardoni, Barbara; Davidovic, Laetitia] Univ Nice Sophia Antipolis, F-06103 Nice, France.
RP Davidovic, L (reprint author), CNRS, Inst Pharmacol Mol & Cellulaire, UMR 7275, 660 Route Lucioles, F-06560 Valbonne, France.
EM davidovic@ipmc.cnrs.fr; boris.macek@uni-tuebingen.de
RI Bardoni, Barbara/F-9918-2013
FU CNRS; FRAXA Foundation; Universite de Nice; ANR JCJC MetaboXFra; INSERM;
Agence Nationale de la Recherche [ANR-11-LABX-0028-01, Blanc SVSE4-2012,
Blanc SVSE8-2012]; FP7 PRIME-XS Consortium
FX The authors gratefully thank Prof. E.W. Khandjian (Centre de Recherche
Universite Laval-Robert Giffard, Quebec, Canada) for kindly providing
the SV40-transformed STEK cell line in which were performed experiments
preliminary to this study. L.D. thanks JoeIle Chabry and Gerard Lambeau
(IPMC, Valbonne, France) for providing antibodies and advice for their
use. Our work was supported by CNRS, FRAXA Foundation, Universite de
Nice, and ANR JCJC MetaboXFra (to L.D.), INSERM, Agence Nationale de la
Recherche: ANR-11-LABX-0028-01, Blanc SVSE4-2012, and Blanc SVSE8-2012
(to B.B.), and FP7 PRIME-XS Consortium (to B.M.).
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NR 89
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 1535-3893
EI 1535-3907
J9 J PROTEOME RES
JI J. Proteome Res.
PD OCT
PY 2014
VL 13
IS 10
BP 4388
EP 4397
DI 10.1021/pr5006372
PG 10
WC Biochemical Research Methods
SC Biochemistry & Molecular Biology
GA AQ3UO
UT WOS:000342719200016
PM 25168779
ER
PT J
AU Chen, MH
Su, TP
Chen, YS
Hsu, JW
Huang, KL
Chang, WH
Chen, TJ
Pan, TL
Bai, YM
AF Chen, Mu-Hong
Su, Tung-Ping
Chen, Ying-Sheue
Hsu, Ju-Wei
Huang, Kai-Lin
Chang, Wen-Han
Chen, Tzeng-Ji
Pan, Tai-Long
Bai, Ya-Mei
TI Is atopy in early childhood a risk factor for ADHD and ASD? A
longitudinal study
SO JOURNAL OF PSYCHOSOMATIC RESEARCH
LA English
DT Article
DE Atopy; ASD; ADHD
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; ALLERGIC DISEASES; TIME TRENDS; ASTHMA; CHILDREN; ASSOCIATION;
AUTISM; COMORBIDITY; PREVALENCE
AB Objective: Previous studies have found a temporal concordance in the increased prevalence of atopic diathesis/atopic diseases, attention-deficit hyperactivity disorder (ADHD), and autistic spectrum disorder (ASD) worldwide. But, the temporal association among these 3 distinct diseases is unknown.
Method: 14,812 atopic subjects diagnosed with any atopic disease (asthma, atopic dermatitis, allergic rhinitis, or allergic conjunctivitis) before the age of 3 (atopic cohort) and 6944 non-atopic subjects with no lifetime atopic disease (non-atopic cohort), born between 1997 and 2000, were enrolled and followed to December 31, 2010 to identify the development of ADHD and ASD.
Results: The presence of any atopic disease in early childhood increased the risk of developing ADHD (hazard ratio [HR]: 1.97) and ASD (HR: 3.40) in later life. Greater numbers of atopic comorbidities (4 comorbidities: ADHD: HR: 253; ASD: HR: 429) were significantly related to a greater risk of developing ADHD and ASD.
Discussion: Atopic diathesis in early childhood elevated the risk of developing ADHD and ASD in later life, with the dose-dependent relationship of more atopic comorbidities with a greater likelihood of ADHD and ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei] Taipei Vet Gen Hosp, Dept Psychiat, Taipei, Taiwan.
[Chen, Mu-Hong; Su, Tung-Ping; Chen, Ying-Sheue; Hsu, Ju-Wei; Huang, Kai-Lin; Chang, Wen-Han; Bai, Ya-Mei] Natl Yang Ming Univ, Coll Med, Dept Psychiat, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Taipei Vet Gen Hosp, Dept Family Med, Taipei, Taiwan.
[Su, Tung-Ping; Bai, Ya-Mei] Natl Yang Ming Univ, Inst Brain Sci, Taipei 112, Taiwan.
[Chen, Tzeng-Ji] Natl Yang Ming Univ, Inst Hosp & Hlth Care Adm, Taipei 112, Taiwan.
[Pan, Tai-Long] Chang Gung Univ, Sch Tradit Chinese Med, Taoyuan, Taiwan.
[Pan, Tai-Long] Chang Gung Univ Sci & Technol, Res Ctr Ind Human Ecol, Taoyuan, Taiwan.
RP Bai, YM (reprint author), Dept Psychiat, 201 Shih Pai Rd,Sec 2, Taipei 11217, Taiwan.
EM ymbi@mail2000.com.tw
FU Taipei Veterans General Hospital [V103E10-001]
FX The study was supported by grant from Taipei Veterans General Hospital
(V103E10-001).
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NR 45
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0022-3999
EI 1879-1360
J9 J PSYCHOSOM RES
JI J. Psychosomat. Res.
PD OCT
PY 2014
VL 77
IS 4
BP 316
EP 321
DI 10.1016/j.jpsychores.2014.06.006
PG 6
WC Psychiatry
SC Psychiatry
GA AQ5ZK
UT WOS:000342886900010
PM 25280829
ER
PT J
AU Narzisi, G
O'Rawe, JA
Iossifov, I
Fang, H
Lee, YH
Wang, ZH
Wu, YY
Lyon, GJ
Wigler, M
Schatz, MC
AF Narzisi, Giuseppe
O'Rawe, Jason A.
Iossifov, Ivan
Fang, Han
Lee, Yoon-ha
Wang, Zihua
Wu, Yiyang
Lyon, Gholson J.
Wigler, Michael
Schatz, Michael C.
TI Accurate de novo and transmitted indel detection in exome-capture data
using microassembly
SO NATURE METHODS
LA English
DT Article
ID HUMAN GENOMES; MUTATIONS; AUTISM; VARIANTS; INSERTIONS; DELETIONS;
SPECTRUM; READS; SNP
AB We present an open-source algorithm, Scalpel (http://scalpel.sourceforge.net/), which combines mapping and assembly for sensitive and specific discovery of insertions and deletions (indels) in exome-capture data. A detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discovery, particularly in regions containing near-perfect repeats. We analyzed 593 families from the Simons Simplex Collection and demonstrated Scalpel's power to detect long (>= 30 bp) transmitted events and enrichment for de novo likely gene-disrupting indels in autistic children.
C1 [Narzisi, Giuseppe; Iossifov, Ivan; Lee, Yoon-ha; Wang, Zihua; Wigler, Michael; Schatz, Michael C.] Cold Spring Harbor Lab, Simons Ctr Quantitat Biol, Cold Spring Harbor, NY 11724 USA.
[Narzisi, Giuseppe] New York Genome Ctr, New York, NY USA.
[O'Rawe, Jason A.; Fang, Han; Wu, Yiyang; Lyon, Gholson J.] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, Cold Spring Harbor, NY 11724 USA.
[O'Rawe, Jason A.; Fang, Han; Wu, Yiyang; Lyon, Gholson J.] SUNY Stony Brook, Stony Brook, NY 11794 USA.
RP Narzisi, G (reprint author), Cold Spring Harbor Lab, Simons Ctr Quantitat Biol, POB 100, Cold Spring Harbor, NY 11724 USA.
EM gnarzisi@cshl.edu
FU US National Institutes of Health [R01-HG006677]; US National Science
Foundation [DBI-1350041]; Cold Spring Harbor Laboratory (CSHL) Cancer
Center Support Grant [5P30CA045508]; Stanley Institute for Cognitive
Genomics; Simons Foundation [SF51, SF235988]
FX The project was supported in part by the US National Institutes of
Health (R01-HG006677) and US National Science Foundation (DBI-1350041)
to M.C.S. and by the Cold Spring Harbor Laboratory (CSHL) Cancer Center
Support Grant (5P30CA045508), the Stanley Institute for Cognitive
Genomics and the Simons Foundation (SF51 and SF235988) to M.W. The DNA
samples used in this work are included within SSC release 13. Approved
researchers can obtain the SSC population data set described in this
study by applying at https://base.sfari.org/. We thank S. Eskipehlivan
for the technical assistance with the MiSeq validation experiments. We
thank M. Bekritsky, S. Neuburgerand, M. Ronemus, D. Levy, B. Yamron and
B. Mishra for helpful discussions and comments on the paper. We thank R.
Aboukhalil for testing the software.
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NR 26
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1548-7091
EI 1548-7105
J9 NAT METHODS
JI Nat. Methods
PD OCT
PY 2014
VL 11
IS 10
BP 1033
EP 1036
DI 10.1038/NMETH.3069
PG 4
WC Biochemical Research Methods
SC Biochemistry & Molecular Biology
GA AQ3UN
UT WOS:000342719100021
PM 25128977
ER
PT J
AU Ivorra, JL
Rivero, O
Costas, J
Iniesta, R
Arrojo, M
Ramos-Rios, R
Carracedo, A
Palomo, T
Rodriguez-Jimenez, R
Cervilla, J
Gutierrez, B
Molina, E
Arango, C
Alvarez, M
Pascual, JC
Perez, V
Saiz, PA
Garcia-Portilla, MP
Bobes, J
Gonzalez-Pinto, A
Zorrilla, I
Haro, JM
Bernardo, M
Baca-Garcia, E
Gonzalez, JC
Hoenicka, J
Molto, MD
Sanjuan, J
AF Luis Ivorra, Jose
Rivero, Olga
Costas, Javier
Iniesta, Raquel
Arrojo, Manuel
Ramos-Rios, Ramon
Carracedo, Angel
Palomo, Tomas
Rodriguez-Jimenez, Roberto
Cervilla, Jorge
Gutierrez, Blanca
Molina, Esther
Arango, Celso
Alvarez, Mar
Pascual, Juan C.
Perez, Vctor
Alejandra Saiz, Pilar
Paz Garcia-Portilla, Maria
Bobes, Julio
Gonzalez-Pinto, Ana
Zorrilla, Inaki
Maria Haro, Josep
Bernardo, Miguel
Baca-Garcia, Enrique
Carlos Gonzalez, Jose
Hoenicka, Janet
Dolores Molto, Maria
Sanjuan, Julio
TI Replication of previous genome-wide association studies of psychiatric
diseases in a large schizophrenia case-control sample from Spain
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE GWAS; Schizophrenia; Bipolar disorder; ODZ4; Polygenic score;
Replication study
ID BIPOLAR DISORDER; COMMON VARIANTS; RISK; AUTISM; LOCI; IDENTIFICATION;
POPULATION; CACNA1C; DISRUPTION; SUPPORTS
AB Genome wide association studies (GWAS) has allowed the discovery of some interesting risk variants for schizophrenia (SCZ). However, this high-throughput approach presents some limitations, being the most important the necessity of highly restrictive statistical corrections as well as the loss of statistical power inherent to the use of a Single Nucleotide Polymorphism (SNP) analysis approach. These problems can be partially solved through the use of a polygenic approach. We performed a genotyping study in SCZ using 86 previously associated SNPs identified by GWAS of SCZ, bipolar disorder (BPD) and autistic spectrum disorder (ASD) patients. The sample consisted of 3063 independent cases with DSM-IV-TR diagnosis of SCZ and 2847 independent controls of European origin from Spain. A polygenic score analysis was also used to test the overall effect on the SCZ status. One SNP, rs12290811, located in the ODZ4 gene reached statistical significance (p = 1.7 x 10(-4), Allelic odds ratio = 1.21), a value very near to those reported in previous GWAS of BPD patients. In addition, 4 SNPs were close to the significant threshold: rs3850333, in the NRXN1 gene; rs6932590, at MHC; rs2314398, located in an intergenic region on chromosome 2; and rs1006737, in the CACNA1C gene. We also found that 74% of the studied SNPs showed the same tendency (risk or protection alleles) previously reported in the original GWAS (p < 0.001). Our data strengthen the polygenic component of susceptibility to SCZ. Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis. (C) 2014 Published by Elsevier B. V.
C1 [Luis Ivorra, Jose; Rivero, Olga; Palomo, Tomas; Rodriguez-Jimenez, Roberto; Cervilla, Jorge; Gutierrez, Blanca; Molina, Esther; Arango, Celso; Alvarez, Mar; Pascual, Juan C.; Perez, Vctor; Alejandra Saiz, Pilar; Paz Garcia-Portilla, Maria; Bobes, Julio; Gonzalez-Pinto, Ana; Zorrilla, Inaki; Maria Haro, Josep; Bernardo, Miguel; Baca-Garcia, Enrique; Carlos Gonzalez, Jose; Hoenicka, Janet; Dolores Molto, Maria; Sanjuan, Julio] CIBERSAM, Madrid, Spain.
[Luis Ivorra, Jose] Univ Leeds, Fac Biol Sci, Sch Biomed Sci, Leeds, W Yorkshire, England.
[Rivero, Olga] Univ Wurzburg, Div Mol Psychiat, Lab Translat Neurosci, Dept Psychiat Psychosomat & Psychotherapy, D-97070 Wurzburg, Germany.
[Costas, Javier; Arrojo, Manuel; Ramos-Rios, Ramon] CHUS, Serv Galego Saude SERGAS, Inst Invest Sanitaria IDIS Santiago de Compostela, Santiago De Compostela, Spain.
[Iniesta, Raquel; Maria Haro, Josep] Fdn St Joan de Deu, Barcelona, Spain.
[Carracedo, Angel] Univ Santiago de Compostela, CIBERER, Grp Med Xenom, Fdn Publ Galega Med Xenom, Santiago De Compostela, Spain.
[Palomo, Tomas; Rodriguez-Jimenez, Roberto; Hoenicka, Janet] Univ 12 Octubre, Dept Psychiat, Inst Invest Hosp, Madrid, Spain.
[Cervilla, Jorge] Kings Coll London, Ctr Publ Mental Hlth, Hlth Serv & Populat Res Dept, Inst Psychiat, London WC2R 2LS, England.
[Gutierrez, Blanca; Molina, Esther] Univ Granada, Fac Med, Granada, Spain.
[Arango, Celso; Alvarez, Mar] Univ Complutense, Child & Adolescent Psychiat Dept, Inst Invest Sanitaria Gregorio Maranon, IiSGM,Hosp Gen Univ Gregorio Maranon,Fac Med, E-28040 Madrid, Spain.
[Pascual, Juan C.] Hosp Santa Creu & Sant Pau, Dept Psychiat, Barcelona, Spain.
[Perez, Vctor] Univ Autonoma Barcelona, Hosp del Mar, Inst Neuropsiquiatria & Add, E-08193 Barcelona, Spain.
[Alejandra Saiz, Pilar; Paz Garcia-Portilla, Maria; Bobes, Julio] Univ Oviedo, Area Psiquiatria, Oviedo, Spain.
[Gonzalez-Pinto, Ana; Zorrilla, Inaki] Hosp Santiago Apostol Vitoria, Vitoria, Spain.
[Bernardo, Miguel] Univ Barcelona, Hosp Clin Barcelona, Inst Neurosci,Dept Psychiat & Clin Psychobiol, Schizophrenia Unit,IDIBAPS, Barcelona, Spain.
[Baca-Garcia, Enrique] Univ Autonoma Madrid, Fdn Jimenez Diaz, Dept Psychiat, E-28049 Madrid, Spain.
[Carlos Gonzalez, Jose; Sanjuan, Julio] Univ Valencia, Hosp Clin, INCLIVA, Valencia, Spain.
[Hoenicka, Janet] Ctr Invest Principe Felipe, Valencia, Spain.
[Dolores Molto, Maria] Univ Valencia, Fac Biol, Dept Genet, INCLIVA, Valencia, Spain.
RP Sanjuan, J (reprint author), Univ Valencia, Fac Med, Dept Med, Unidad Psiquiatria, Avinguda Blasco Ibanez 15, Valencia 46010, Spain.
EM Julio.sanjuan@uv.es
RI Costas, Javier/B-5016-2008; Gutierrez, Blanca/K-9699-2014; Baca-Garcia,
Enrique/F-4106-2015
OI Costas, Javier/0000-0003-0306-3990; Gutierrez,
Blanca/0000-0002-2750-8440; Baca-Garcia, Enrique/0000-0002-6963-6555
FU Ministerio de Economia y Competitividad, Spain; Instituto de Salud
Carlos III, Spain; Centro de Investigacion Biomedica en Red de Salud
Mental CIBERSAM, Spain; Research Support Fellowship from Instituto de
Investigacion Sanitaria INCLIVA, Spain
FX This work was supported by the Ministerio de Economia y Competitividad,
the Instituto de Salud Carlos III and The Centro de Investigacion
Biomedica en Red de Salud Mental CIBERSAM, all of them from Spain.
Financial support of this work comes from a Research Support Fellowship
from Instituto de Investigacion Sanitaria INCLIVA, Spain.
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NR 48
TC 2
Z9 2
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD OCT
PY 2014
VL 159
IS 1
BP 107
EP 113
DI 10.1016/j.schres.2014.07.004
PG 7
WC Psychiatry
SC Psychiatry
GA AQ8TY
UT WOS:000343107400018
PM 25124521
ER
PT J
AU Saito, Y
Suga, M
Tochigi, M
Abe, O
Yahata, N
Kawakubo, Y
Liu, XX
Kawamura, Y
Sasaki, T
Kasai, K
Yamasue, H
AF Saito, Yuki
Suga, Motomu
Tochigi, Mamoru
Abe, Osamu
Yahata, Noriaki
Kawakubo, Yuki
Liu, Xiaoxi
Kawamura, Yoshiya
Sasaki, Tsukasa
Kasai, Kiyoto
Yamasue, Hidenori
TI Neural correlate of autistic-like traits and a common allele in the
oxytocin receptor gene
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE asperger; endophenotype; imaging genetics; pervasive developmental
disorder; sex difference
ID SPECTRUM QUOTIENT AQ; HEALTHY CAUCASIAN ADULTS; EXTENDED LIMBIC SYSTEM;
SOCIAL-BEHAVIOR; FUNCTIONING AUTISM; OXTR POLYMORPHISM; BRAIN-REGIONS;
WHITE-MATTER; POPULATION; DISORDERS
AB Sub-clinical autistic-like traits (ALTs) are continuously distributed in the general population and genetically linked to autism. Although identifying the neurogenetic backgrounds of ALTs might enhance our ability to identify those of autism, they are largely unstudied. Here, we have examined the neuroanatomical basis of ALTs and their association with the oxytocin receptor gene (OXTR) rs2254298A, a known risk allele for autism in Asian populations which has also been implicated in limbic-paralimbic brain structures. First, we extracted a four-factor structure of ALTs, as measured using the Autism-Spectrum Quotient, including 'prosociality', 'communication', 'details/patterns' and 'imagination' in 135 neurotypical adults (79 men, 56 women) to reduce the genetic heterogeneity of ALTs. Then, in the same population, voxel-based morphometry revealed that lower 'prosociality', which indicates strong ALTs, was significantly correlated to smaller regional grey matter volume in the right insula in males. Males with lower 'prosociality' also had less interregional structural coupling between the right insula and the ventral anterior cingulate cortex. Furthermore, males with OXTR rs2254298A had significantly smaller grey matter volume in the right insula. These results show that decreased volume of the insula is a neuroanatomical correlate of ALTs and a potential intermediate phenotype linking ALTs with OXTR in male subjects.
C1 [Saito, Yuki; Suga, Motomu; Tochigi, Mamoru; Yahata, Noriaki; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, Tokyo 1138655, Japan.
[Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Itabashi Ku, Tokyo 1738610, Japan.
[Yahata, Noriaki] Univ Tokyo, Global Ctr Excellence COE Program, Grad Sch Med, Tokyo 1138655, Japan.
[Kawakubo, Yuki] Univ Tokyo, Grad Sch Med, Dept Child Psychiat, Tokyo 1138655, Japan.
[Liu, Xiaoxi] Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo 1138655, Japan.
[Kawamura, Yoshiya; Sasaki, Tsukasa] Univ Tokyo, Hlth Serv Ctr, Bunkyo Ku, Tokyo 1138655, Japan.
[Yamasue, Hidenori] Japan Sci & Technol Agcy, CREST, Chiyoda Ku, Tokyo 1020075, Japan.
RP Yamasue, H (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM yamasue-tky@umin.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology
[22689034, 20591378]
FX Part of this study was supported by Grants-in-Aid for Scientific
Research (22689034 to H.Y.; 20591378 to N.Y.) and the 'Development of
biomarker candidates for social behavior' project carried out under the
Strategic Research Program for Brain Sciences by the Ministry of
Education, Culture, Sports, Science and Technology. There was no role of
the study sponsor(s) in study design, in the collection, analysis and
interpretation of data, in the writing of the report, or in the decision
to submit the paper for publication.
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NR 69
TC 1
Z9 1
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 OCT
PY 2014
VL 9
IS 10
BP 1443
EP 1450
DI 10.1093/scan/nst136
PG 8
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700001
PM 23946005
ER
PT J
AU Schneiderman, I
Kanat-Maymon, Y
Ebstein, RP
Feldman, R
AF Schneiderman, Inna
Kanat-Maymon, Yaniv
Ebstein, Richard P.
Feldman, Ruth
TI Cumulative risk on the oxytocin receptor gene (OXTR) underpins empathic
communication difficulties at the first stages of romantic love
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE oxytocin; OXTR; empathy; romantic relationships; bonding; genetic risk
ID SOCIAL-BEHAVIOR; SEROTONIN TRANSPORTER; PARTNER PREFERENCE;
BLOOD-PRESSURE; ASSOCIATION; AUTISM; ATTACHMENT; AMYGDALA; SUPPORT;
RESPONSES
AB Empathic communication between couples plays an important role in relationship quality and individual well-being and research has pointed to the role of oxytocin in providing the neurobiological substrate for pair-bonding and empathy. Here, we examined links between genetic variability on the oxytocin receptor gene (OXTR) and empathic behaviour at the initiation of romantic love. Allelic variations on five OXTR single nucleotide polymorphisms (SNPs) previously associated with susceptibility to disorders of social functioning were genotyped in 120 new lovers: OXTRrs13316193, rs2254298, rs1042778, rs2268494 and rs2268490. Cumulative genetic risk was computed by summing risk alleles on each SNP. Couples were observed in support-giving interaction and behaviour was coded for empathic communication, including affective congruence, maintaining focus on partner, acknowledging partner's distress, reciprocal exchange and non-verbal empathy. Hierarchical linear modelling indicated that individuals with high OXTR risk exhibited difficulties in empathic communication. OXTR risk predicted empathic difficulties above and beyond the couple level, relationship duration, and anxiety and depressive symptoms. Findings underscore the involvement of oxytocin in empathic behaviour during the early stages of social affiliation, and suggest the utility of cumulative risk and plasticity indices on the OXTR as potential biomarkers for research on disorders of social dysfunction and the neurobiology of empathy.
C1 [Feldman, Ruth] Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
RP Feldman, R (reprint author), Bar Ilan Univ, Dept Psychol, IL-52900 Ramat Gan, Israel.
EM feldman@mail.biu.ac.il
FU German-Israeli Foundation [1114-101.4/2010]; Irving B. Harris
Foundation, Israel Center for Excellence (ICORE)
FX The study was supported by the German-Israeli Foundation
(#1114-101.4/2010) and the Irving B. Harris Foundation, Israel Center
for Excellence (ICORE) to Ruth Feldman.
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NR 83
TC 5
Z9 5
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1524
EP 1529
DI 10.1093/scan/nst142
PG 6
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700011
PM 23974948
ER
PT J
AU Stavropoulos, KKM
Carver, LJ
AF Stavropoulos, Katherine K. M.
Carver, Leslie J.
TI Reward sensitivity to faces versus objects in children: an ERP study
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE event-related potentials; reward processing; faces; children; social
motivation
ID STIMULUS-PRECEDING NEGATIVITY; TIME-ESTIMATION TASK; FACIAL
ATTRACTIVENESS; FEEDBACK STIMULI; INSULAR CORTEX; HEART-RATE;
ANTICIPATION; PUNISHMENT; MONETARY; CONTINGENCY
AB How children respond to social and nonsocial rewards has important implications for understanding social cognitive development. Adults find faces intrinsically rewarding. However, little is known about how children respond to face vs nonface rewards. We utilized event-related potentials (the stimulus-preceding negativity, SPN) to measure differences in reward anticipation during a guessing game in 6 -to 8-year-olds. Children were presented with reward indicators accompanied by incidental face or nonface stimuli. Nonface stimuli were comprised of scrambled faces in the shape of arrows, controlling for low-level properties of the two conditions. Children showed an increased SPN when the reward stimuli were accompanied by faces, relative to nonface stimuli. This suggests that children find a face stimulus more rewarding than a nonface stimulus. The results have important implications for processing social vs nonsocial rewards in typically developing children, and allow testing of populations with deficits in social reward processing, such as autism spectrum disorder.
C1 [Stavropoulos, Katherine K. M.; Carver, Leslie J.] Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
[Carver, Leslie J.] Univ Calif San Diego, Human Dev Program, La Jolla, CA 92093 USA.
RP Stavropoulos, KKM (reprint author), Univ Calif San Diego, Dept Psychol, 9500 Gilman Dr, La Jolla, CA 92093 USA.
EM kmeltzof@ucsd.edu
FU Autism Speaks' Dennis Weatherstone Predoctoral Fellowship [7844];
National Institute of Health/National Institute of Child Health and
Human Development [NIH/NICHD R01 HD052804-01A2]; National Institute of
Neurological Disorders and Stroke/National Institute of Health
[NINDS/NIH R01NS071580-01]
FX K.K.M.S. is supported by Autism Speaks' Dennis Weatherstone Predoctoral
Fellowship (7844). L.J.C. is supported by the National Institute of
Health/National Institute of Child Health and Human Development
(NIH/NICHD R01 HD052804-01A2) and the National Institute of Neurological
Disorders and Stroke/National Institute of Health (NINDS/NIH
R01NS071580-01).
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NR 38
TC 3
Z9 3
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1749-5016
EI 1749-5024
J9 SOC COGN AFFECT NEUR
JI Soc. Cogn. Affect. Neurosci.
PD OCT
PY 2014
VL 9
IS 10
BP 1569
EP 1575
DI 10.1093/scan/nst149
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700017
PM 24036961
ER
PT J
AU Alaerts, K
Woolley, DG
Steyaert, J
Di Martino, A
Swinnen, SP
Wenderoth, N
AF Alaerts, Kaat
Woolley, Daniel G.
Steyaert, Jean
Di Martino, Adriana
Swinnen, Stephan P.
Wenderoth, Nicole
TI Underconnectivity of the superior temporal sulcus predicts emotion
recognition deficits in autism
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders; superior temporal sulcus; functional
connectivity; functional magnetic resonance imaging; emotion recognition
ID FUNCTIONAL CONNECTIVITY MRI; BIOLOGICAL MOTION PERCEPTION; SPECTRUM
DISORDERS; ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; SOCIAL-PERCEPTION;
BRAIN; CHILDREN; INDIVIDUALS; FMRI
AB Neurodevelopmental disconnections have been assumed to cause behavioral alterations in autism spectrum disorders (ASDs). Here, we combined measurements of intrinsic functional connectivity (iFC) from resting-state functional magnetic resonance imaging (fMRI) with task-based fMRI to explore whether altered activity and/or iFC of the right posterior superior temporal sulcus (pSTS) mediates deficits in emotion recognition in ASD. Fifteen adults with ASD and 15 matched-controls underwent resting-state and task-based fMRI, during which participants discriminated emotional states from point light displays (PLDs). Intrinsic FC of the right pSTS was further examined using 584 (278 ASD/306 controls) resting-state data of the Autism Brain Imaging Data Exchange (ABIDE). Participants with ASD were less accurate than controls in recognizing emotional states from PLDs. Analyses revealed pronounced ASD-related reductions both in task-based activity and resting-state iFC of the right pSTS with fronto-parietal areas typically encompassing the action observation network (AON). Notably, pSTS-hypo-activity was related to pSTS-hypo-connectivity, and both measures were predictive of emotion recognition performance with each measure explaining a unique part of the variance. Analyses with the large independent ABIDE dataset replicated reductions in pSTS-iFC to fronto-parietal regions. These findings provide novel evidence that pSTS hypo-activity and hypo-connectivity with the fronto-parietal AON are linked to the social deficits characteristic of ASD.
C1 [Alaerts, Kaat; Woolley, Daniel G.; Swinnen, Stephan P.; Wenderoth, Nicole] Katholieke Univ Leuven, Grp Biomed Sci, Dept Biomed Kinesiol, Movement Control & Neuroplast Res Grp, B-3000 Leuven, Belgium.
[Alaerts, Kaat; Di Martino, Adriana] NYU, NYU Child Study Ctr, New York, NY 10016 USA.
[Steyaert, Jean] Katholieke Univ Leuven, Res Grp Psychiat, Child & Adolescent Psychiat Dept, B-3000 Leuven, Belgium.
[Wenderoth, Nicole] Univ Zurich, Neural Control Movement Lab, Dept Hlth Sci & Technol, CH-8057 Zurich, Switzerland.
RP Alaerts, K (reprint author), NYU, Ctr Child Study, One Pk Ave,8th Floor, New York, NY 10016 USA.
EM Kaat.Alaerts@faber.kuleuven.be
RI Steyaert, Jean/B-5326-2015; Wenderoth, Nicole/D-7262-2015
OI Steyaert, Jean/0000-0003-2512-4694; Wenderoth,
Nicole/0000-0002-3246-9386
FU Flanders Fund for Scientific Research (FWO) [0749.09]; IAP from the
Interuniversity Attraction Poles program of the Belgian federal
government [P7/21]; Research Council of the University of Leuven
[IDO/08/013]; FWO; Flanders Fund for Scientific Research
[G.0404.12/G.0758.10]; Olin, Institute of Living at Hartford Hospital
[Autism Speaks], Hartford Hospital; Oregon Health and Science University
[R00 MH091238, R01 MH096773, R01 MH086654]; Oregon Health and Science
University [Simon Foundation, Inc.]; Trinity Centre for Health Sciences
[The Meath Foundation, Adelaide]; Trinity Centre for Health Sciences
[Meath Hospital]; Trinity Centre for Health Sciences [National
Children's Hospital (AMNCH), Tallaght]; Trinity Centre for Health
Sciences [Kyulan Family Foundation]; University of Utah, School of
Medicine [National Institutes of Health] [K08 MH092697, RO1MH080826,
P50MH60450, T32DC008553, R01NS34783]; Autism Speaks Mentor-based
Predoctoral Fellowship [1677]; University of Utah Multidisciplinary
Research Seed Grant; NRSA Predoctoral Fellowship [F31 DC010143]; Ben B.
and Iris M. Margolis Foundation; Yale Child Study Center [Simons
Foundation]; Yale Child Study Center [Autism Speaks]; Yale Child Study
Center [John Merck Scholars Fund]; Yale Child Study Center [Autism
Science Foundation]; Yale Child Study Center [NICHD]; Yale Child Study
Center [NIMH]; University of Leuven [G. 0354.06, 6/29]; University of
Leuven [KU Leuven Research Council] [IDO/08/013]; NYU Langone Medical
Center [NIH] [K23MH087770, R21MH084126, R01MH081218, R01HD065282]; NYU
Langone Medical Center [Autism Speaks]; NYU Langone Medical Center
[Stavros Niarchos Foundation]; NYU Langone Medical Center [Leon Levy
Foundation]; University of California, Los Angeles: Sample 1 (UCLA
Autism Center of Excellence); University of California, Los Angeles:
Sample 1 (NICHD) [P50 HD055784]; University of California, Los Angeles:
Sample 1 (NIMH) [1R01 HD065280-01]; University of Michigan [Autism
Speaks]; University of Michigan [NIH] [U19 HD035482, MH066496]; Autism
Speaks Pre-doctoral Fellowship [4773]; Michigan Institute for Clinical
and Health Research (MICHR) Pre-doctoral Fellowship [UL1RR024986]; NIH
[R21 MH079871]
FX We are grateful to all the subjects who voluntarily participated in this
research and to E. Nackaerts for her help with data collection. We thank
I. Noens, J. Wagemans and other members of the Leuven Autism Research
Consortium (LAuRes) for discussion and aid in subject recruitment. This
work was supported by grants from the Flanders Fund for Scientific
Research (FWO project 0749.09), and by IAP grant P7/21 from the
Interuniversity Attraction Poles program of the Belgian federal
government. The study was conducted in collaboration with the LAuRes
funded by the Research Council of the University of Leuven (IDO/08/013).
K. A. is supported by a FWO postdoctoral research fellowship grant. D.
G. W. is supported by grant G.0404.12/G.0758.10 from the Flanders Fund
for Scientific Research.We would also like to thank all the members of
the Autism Brain Imaging Data Exchange Consortium (ABIDE;
http://fcon_1000.projects.nitrc.org/indi/abide/) and Michael P. Milham
and the INDI team (http://fcon_1000.projects.nitrc.org/) supporting the
ABIDE effort. We especially thank the sites whose data were included in
these analyses and their funding sources: (i) Olin, Institute of Living
at Hartford Hospital [Autism Speaks (to M. A.), Hartford Hospital (to M.
A.)], (ii) Oregon Health and Science University [R00 MH091238 (Fair),
R01 MH096773 (Fair), R01 MH086654 (Nigg), Simon Foundation, Inc.
(Nigg)], (iii) Trinity Centre for Health Sciences [The Meath Foundation,
Adelaide and Meath Hospital, incorporating the National Children's
Hospital (AMNCH), Tallaght, and travel fellowship by the Kyulan Family
Foundation], (iv) University of Utah, School of Medicine [National
Institutes of Health (grant numbers: K08 MH092697, RO1MH080826,
P50MH60450, T32DC008553, R01NS34783), Autism Speaks Mentor-based
Predoctoral Fellowship (grant number: 1677), University of Utah
Multidisciplinary Research Seed Grant, NRSA Predoctoral Fellowship
(grant number: F31 DC010143), Ben B. and Iris M. Margolis Foundation],
(v) Yale Child Study Center [Simons Foundation (KP), Autism Speaks (KP),
John Merck Scholars Fund (KP), Autism Science Foundation, NICHD (KP),
NIMH], (vi) University of Leuven: Sample 2 [Fund for Scientific
Research-Flanders (F.W.O.) (research grant G. 0354.06, doctoral mandate
to JV, research grant 1841313N, senior clinical investigator grant to
SS); Belgian Inter University Attraction Pole (grant 6/29); KU Leuven
Research Council (grant IDO/08/013)], (vii) NYU Langone Medical Center
[NIH (K23MH087770; R21MH084126; R01MH081218; R01HD065282), Autism
Speaks, The Stavros Niarchos Foundation, The Leon Levy Foundation, An
endowment provided by Phyllis Green and Randolph Cowen], (viii)
University of California, Los Angeles: Sample 1 (UCLA Autism Center of
Excellence, NICHD P50 HD055784, NIMH 1R01 HD065280-01) and (ix)
University of Michigan: Sample 2 [Autism Speaks (CM), NIH (U19 HD035482
and MH066496 (CL)), Autism Speaks Pre-doctoral Fellowship 4773 (JW),
Michigan Institute for Clinical and Health Research (MICHR) Pre-doctoral
Fellowship UL1RR024986 (JW), NIH R21 MH079871 (SP)].
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NR 82
TC 1
Z9 1
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 OCT
PY 2014
VL 9
IS 10
BP 1589
EP 1600
DI 10.1093/scan/nst156
PG 12
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IR
UT WOS:000342986700020
PM 24078018
ER
PT J
AU Bruno, JL
Garrett, AS
Quintin, EM
Mazaika, PK
Reiss, AL
AF Bruno, Jennifer Lynn
Garrett, Amy S.
Quintin, Eve-Marie
Mazaika, Paul K.
Reiss, Allan L.
TI Aberrant Face and Gaze Habituation in Fragile X Syndrome
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID SOCIAL COGNITION; UNDERLYING FACE; FMR1 GENE; AUTISM; CHILDREN; ANXIETY;
IDENTIFICATION; SUPPRESSION; EXPRESSION; PLASTICITY
AB Objective: The authors sought to investigate neural system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversion, among other social and cognitive deficits.
Method: Participants (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25 individuals without fragile X syndrome (females, N=12) matched for general cognitive ability and autism symptoms. Functional MRI (fMRI) was used to assess brain activation during a gaze habituation task. Participants viewed repeated presentations of four unique faces with either direct or averted eye gaze and judged the direction of eye gaze.
Results: Four participants (males, N=4/4; fragile X syndrome, N=3) were excluded because of excessive head motion during fMRI scanning. Behavioral performance did not differ between the groups. Less neural habituation (and significant sensitization) in the. fragile X syndrome group was found in the cingulate gyrus, fusiform gyrus, and frontal cortex in response to all faces (direct and averted gaze). Left fusiform habituation in female participants was directly correlated with higher, more typical levels of the fragile X mental retardation protein and inversely correlated with autism symptoms. There was no evidence for differential habituation to direct gaze compared with averted gaze within or between groups.
Conclusions: Impaired habituation and accentuated sensitization in response to face/eye gaze was distributed across multiple levels of neural processing. These results could help inform interventions, such as desensitization therapy, which may help patients with fragile X syndrome modulate anxiety and arousal associated with eye gaze, thereby improving social functioning.
C1 [Reiss, Allan L.] Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
Stanford Univ, Dept Radiol, Stanford, CA 94305 USA.
Stanford Univ, Dept Pediat, Stanford, CA 94305 USA.
Georgia Inst Technol, Ctr Adv Brain Imaging, Atlanta, GA 30332 USA.
RP Reiss, AL (reprint author), Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Stanford, CA 94305 USA.
EM areiss1@stanford.edu
FU NIH [5R01-MH50047, T32-MH-19908]; Fonds de Recherche Societe et Culture
Quebec
FX Supported by NIH grants 5R01-MH50047 (to Dr. Reiss) and T32-MH-19908 (to
Drs. Reiss and Bruno) and a postdoctoral grant from the Fonds de
Recherche Societe et Culture Quebec (to Dr. Quintin).
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NR 38
TC 0
Z9 0
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 OCT
PY 2014
VL 171
IS 10
BP 1099
EP 1106
DI 10.1176/appi.ajp.2014.13111464
PG 8
WC Psychiatry
SC Psychiatry
GA AQ3SM
UT WOS:000342713800015
PM 24969119
ER
PT J
AU Murphy, CM
Christakou, A
Daly, EM
Ecker, C
Giampietro, V
Brammer, M
Smith, AB
Johnston, P
Robertson, DM
Murphy, DG
Rubia, K
AF Murphy, Clodagh M.
Christakou, Anastasia
Daly, Eileen M.
Ecker, Christine
Giampietro, Vincent
Brammer, Michael
Smith, Anna B.
Johnston, Patrick
Robertson, Dene M.
Murphy, Declan G.
Rubia, Katya
CA MRC AIMS Consortium
TI Abnormal Functional Activation and Maturation of Fronto-Striato-Temporal
and Cerebellar Regions During Sustained Attention in Autism Spectrum
Disorder
SO AMERICAN JOURNAL OF PSYCHIATRY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; COGNITIVE CONTROL; ASPERGER-SYNDROME;
BRAIN ACTIVATION; CHILDREN; AGE; ADHD; PERFORMANCE; CHILDHOOD;
QUESTIONNAIRE
AB Objective: Sustained attention problems are common in people with autism spectrum disorder (ASD) and may have significant implications for the diagnosis and management of ASD and associated comorbidities. Furthermore, ASD has been associated with atypical structural brain development. The authors used functional MRI to investigate the functional brain maturation of attention between childhood and adulthood in people with ASD.
Method: Using a parametrically modulated sustained attention/vigilance task, the authors examined brain activation and its linear correlation with age between childhood and adulthood in 46 healthy male adolescents and adults (ages 11-35 years) with ASD and 44 age- and IQ-matched typically developing comparison subjects.
Results: Relative to the comparison group, the ASD group had significantly poorer task performance and significantly lower activation in inferior prefrontal cortical, medial prefrontal cortical, striato-thalamic, and lateral cerebellar regions. A conjunction analysis of this analysis with group differences in brain-age correlations showed that the comparison group, but not the ASD group, had significantly progressively increased activation with age in these regions between childhood and adulthood, suggesting abnormal functional brain maturation in ASD. Several regions that showed both abnormal activation and functional maturation were associated with poorer task performance and clinical measures of ASD and inattention.
Conclusions: The results provide first evidence that abnormalities in sustained attention networks in individuals with ASD are associated with underlying abnormalities in the functional brain maturation of these networks between late childhood and adulthood.
C1 [Murphy, Clodagh M.] Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
Kings Coll London, Dept Forens & Neurodev Sci, London WC2R 2LS, England.
Kings Coll London, Dept Child & Adolescent Psychiat, London WC2R 2LS, England.
Kings Coll London, Ctr Neuroimaging, Inst Psychiat, London WC2R 2LS, England.
South London & Maudsley Fdn NHS Trust, Behav Genet Clin, Adult Autism Serv, Behav & Dev Psychiat Clin Acad Grp, London, England.
Univ Reading, Sch Psychol & Clin Language Sci, Reading, Berks, England.
RP Murphy, CM (reprint author), Kings Coll London, Sackler Inst Translat Neurodev, London WC2R 2LS, England.
EM clodagh.m.murphy@kcl.ac.uk
RI Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010
FU Lilly; U.K. MRC [MRC GO300155]; MRC Autism Imaging Multicentre Study
(MRC AIMS); EU Innovative Medicines Initiative (IMI) AIMS network;
Innovative Medicines Initiative Joint Undertaking [115300]; EU Seventh
Framework Programme; European Federation of Pharmaceutical Industries
and Associations; Sackler Institute for Translational Neurodevelopment;
MRC
FX Dr. C.M. Murphy has received funding from Lilly and speaking honoraria
from Shire and Flynn Pharma. Professor Brammer has served as a
consultant for P1Vital. Professor Rubia has received funding from Lilly
and speaking honoraria from Lilly, Shire, and Medice. The other authors
report no financial relationships with commercial interests.Supported by
grant MRC GO300155 (to Professor Rubia) from the U.K. MRC; by a grant
(to Prof. D.G. Murphy) from the MRC Autism Imaging Multicentre Study
(MRC AIMS); by a grant (to Prof. D.G. Murphy) from the EU Innovative
Medicines Initiative (IMI) AIMS network (receiving support from the
Innovative Medicines Initiative Joint Undertaking under grant agreement
115300, which includes financial contributions from the EU Seventh
Framework Programme [FP7/2007-2013] and from the European Federation of
Pharmaceutical Industries and Associations); and a grant (to Prof. D.G.
Murphy) from the Sackler Institute for Translational
Neurodevelopment.The MRC AIMS Consortium is a collaboration of autism
research centers in the United Kingdom including the Institute of
Psychiatry, London; the Autism Research Centre, University of Cambridge;
and the Autism Research Group, University of Oxford. It is funded by the
MRC and headed by the Department of Forensic and Neurodevelopmental
Sciences, Institute of Psychiatry. The Consortium members are in,
alphabetical order, A.J. Bailey, S. Baron-Cohen, P.F. Bolton, ET.
Bullmore, S. Carrington, B. Chakrabarti, E.M. Daly, S.C. Deoni, C.
Ecker, F. Happe, J. Henty, P. Jezzard, P. Johnston, D.K. Jones, M.
Lombardo, A. madden, D. Mullins, C.M. Murphy, D.G. Murphy, G. Pasco, S.
Sadek, D. Spain, R. Steward, J. Suckling, S. Wheelwright, and S.C.
Williams.
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NR 51
TC 1
Z9 1
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 OCT
PY 2014
VL 171
IS 10
BP 1107
EP 1116
DI 10.1176/appi.ajp.2014.12030352
PG 10
WC Psychiatry
SC Psychiatry
GA AQ3SM
UT WOS:000342713800016
PM 24873905
ER
PT J
AU Barbosa-Leiker, C
Strand, PS
Mamey, MR
Downs, A
AF Barbosa-Leiker, Celestina
Strand, Paul S.
Mamey, Mary Rose
Downs, Andrew
TI Psychometric Properties of the Emotion Understanding Assessment With
Spanish- and English-Speaking Preschoolers Attending Head Start
SO ASSESSMENT
LA English
DT Article
DE Emotion understanding; measurement invariance; psychometric properties
ID TESTING MEASUREMENT INVARIANCE; OF-FIT INDEXES; SOCIAL-BEHAVIOR;
ACADEMIC COMPETENCE; CHILDREN; KNOWLEDGE; AUTISM; EXPRESSIONS;
PREDICTOR; SHYNESS
AB The Emotion Understanding Assessment (EUA) is based on a theoretical model of recognizing emotion expressions and reasoning about situation-based, desire-based, and belief-based emotions. While research has noted that emotion understanding predicts current and future social and academic functioning, little is known about the psychometric properties of the EUA. This research sought to test the EUA factor structure and measurement invariance across gender, across language (English and Spanish speakers), and over time (24 weeks) in 281 preschoolers attending Head Start. Results indicated that a two-factor model of emotion expression recognition and emotional perspective taking of the EUA fit the data for the total sample, for each group (gender and language), and at each time point. Furthermore, configural and scalar invariance of the EUA was demonstrated across gender, language, and time. These results offer support that the EUA is assessing emotion expression recognition and emotional perspective taking constructs equivalently in boy, girls, Spanish and English speakers, and over time. Examination of latent means across groups and time indicate no differences in emotion understanding based on gender or language or over the 24-week time frame in this sample of preschoolers attending Head Start.
C1 [Barbosa-Leiker, Celestina] Washington State Univ, Coll Nursing, Spokane, WA 99210 USA.
[Barbosa-Leiker, Celestina; Mamey, Mary Rose] Washington State Univ, Dept Psychol, Pullman, WA 99164 USA.
[Strand, Paul S.] Washington State Univ, Dept Psychol, Tri Cities, WA USA.
[Downs, Andrew] Univ Portland, Dept Psychol Sci, Portland, OR 97203 USA.
RP Barbosa-Leiker, C (reprint author), Washington State Univ, Coll Nursing, POB 1495, Spokane, WA 99210 USA.
EM celestina@wsu.edu
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NR 33
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1073-1911
EI 1552-3489
J9 ASSESSMENT
JI Assessment
PD OCT
PY 2014
VL 21
IS 5
BP 628
EP 636
DI 10.1177/1073191114524017
PG 9
WC Psychology, Clinical
SC Psychology
GA AQ4GL
UT WOS:000342751400009
PM 24590076
ER
PT J
AU Pellicano, E
Dinsmore, A
Charman, T
AF Pellicano, Elizabeth
Dinsmore, Adam
Charman, Tony
TI What should autism research focus upon? Community views and priorities
from the United Kingdom
SO AUTISM
LA English
DT Article
DE autism community; autism research; decision-making; priority setting
ID SPECTRUM DISORDERS; CHILDREN; AGENDA; ADULTS; HEALTH; PREVALENCE; UK
AB The rise in the measured prevalence of autism has been accompanied by much new research and research investment internationally. This study sought to establish whether the pattern of current UK autism research funding maps on to the concerns of the autism community. Interviews and focus groups were conducted with autistic adults, family members, practitioners and researchers to identify their priorities for research. We also captured the views of a large number of stakeholders via an online survey. There was a clear disparity between the United Kingdom's pattern of funding for autism research and the priorities articulated by the majority of participants. There was general consensus that future priorities for autism research should lie in those areas that make a difference to people's day-to-day lives. There needs to be greater involvement of the autism community both in priority setting and in research more broadly to ensure that resources reach where they are most needed and can make the most impact.
C1 [Pellicano, Elizabeth; Dinsmore, Adam] Univ London, Inst Educ, London WC1E 7HU, England.
[Pellicano, Elizabeth] Univ Western Australia, Nedlands, WA 6009, Australia.
[Dinsmore, Adam] Wellcome Trust Res Labs, London, England.
[Charman, Tony] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Pellicano, E (reprint author), Care of Pellicano L, Univ London, Inst Educ, Dept Psychol & Human Dev,CRAE, 25 Woburn Sq, London WC1H 0AA, England.
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NR 44
TC 4
Z9 4
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 756
EP 770
DI 10.1177/1362361314529627
PG 15
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200002
PM 24789871
ER
PT J
AU Elsabbagh, M
Yusuf, A
Prasanna, S
Shikako-Thomas, K
Ruff, CA
Fehlings, MG
AF Elsabbagh, Mayada
Yusuf, Afiqah
Prasanna, Shreya
Shikako-Thomas, Keiko
Ruff, Crystal A.
Fehlings, Michael G.
TI Community engagement and knowledge translation: Progress and challenge
in autism research
SO AUTISM
LA English
DT Article
DE community needs; engagement; knowledge translation; low- and
middle-income countries
ID SPECTRUM DISORDERS; SCIENCE; IMPLEMENTATION; INTERVENTION; CHILDREN;
PARENTS; TIME
AB The last decade has seen significant growth in scientific understanding and public awareness of autism. There is still a long road ahead before this awareness can be matched with parallel improvements in evidence-based practice. The process of translating evidence into community care has been hampered by the seeming disconnect between the mainstream scientific research agenda and the immediate priorities of many communities. The need for community engagement in the process of translating knowledge into impact has been recognized. However, there remains little consensus or empirical data regarding the process of such engagement and how to measure its impact. We shed light on a number of engagement models and tools, previously advocated in health research, as they apply to autism research. Furthermore, we illustrate the utility of such tools in supporting identification of knowledge gaps and priorities, using two community-based case studies. The case studies illustrate that information generated from research is indeed relevant and critical for knowledge users in the community. Simple and systematic methods can support the translation and uptake of knowledge in diverse communities, therefore enhancing engagement with research and bridging research findings with immediate community needs.
C1 [Elsabbagh, Mayada; Yusuf, Afiqah; Prasanna, Shreya] McGill Univ, Montreal, PQ H3A 1A1, Canada.
[Shikako-Thomas, Keiko] McMaster Univ, Hamilton, ON L8S 4L8, Canada.
[Ruff, Crystal A.; Fehlings, Michael G.] Toronto Western Hosp, Toronto, ON, Canada.
[Ruff, Crystal A.; Fehlings, Michael G.] Univ Toronto, Toronto, ON M5S 1A1, Canada.
RP Elsabbagh, M (reprint author), McGill Univ, Dept Psychiat, Ludmer Res & Training Bldg,1033 Pine Ave West, Montreal, PQ H3A 1A1, Canada.
EM mayada.elsabbagh@mcgill.ca
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NR 48
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 771
EP 781
DI 10.1177/1362361314546561
PG 11
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200003
PM 25128332
ER
PT J
AU Jivraj, J
Sacrey, LA
Newton, A
Nicholas, D
Zwaigenbaum, L
AF Jivraj, Jamil
Sacrey, Lori-Ann
Newton, Amanda
Nicholas, David
Zwaigenbaum, Lonnie
TI Assessing the influence of researcher-partner involvement on the process
and outcomes of participatory research in autism spectrum disorder and
neurodevelopmental disorders: A scoping review
SO AUTISM
LA English
DT Article
DE autism; neurodevelopmental disorders; participatory research
partnerships
ID ACADEMIC-COMMUNITY PARTNERSHIP; INTELLECTUAL DISABILITY;
LEARNING-DIFFICULTIES; CONSUMER INVOLVEMENT; INCLUSIVE RESEARCH;
PUBLIC-HEALTH; PEOPLE; CHALLENGES; CARE; REFLECTIONS
AB Participatory research aims to increase the relevance and broaden the implementation of health research by involving those affected by the outcomes of health studies. Few studies within the field of neurodevelopmental disorders, particularly autism spectrum disorders, have involved autistic individuals as partners. This study sought to identify and characterize published participatory research partnerships between researchers and individuals with autism spectrum disorder or other neurodevelopmental disorders and examine the influence of participatory research partnerships on the research process and reported study outcomes. A search of databases and review of gray literature identified seven studies that described participatory research partnerships between academic researchers and individuals with autism spectrum disorder or other neurodevelopmental disorders. A comparative analysis of the studies revealed two key themes: (1) variations in the participatory research design and (2) limitations during the reporting of the depth of the partner's involvement. Both themes potentially limit the application and generalizability of the findings. The results of the review are discussed in relation to the use of evaluative frameworks for such participatory research studies to determine the potential benefits of participatory research partnerships within the neurodevelopmental and autism spectrum disorder populations.
C1 [Jivraj, Jamil; Sacrey, Lori-Ann; Newton, Amanda; Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB T6G 2R3, Canada.
[Nicholas, David] Univ Calgary, Calgary, AB T2N 1N4, Canada.
RP Jivraj, J (reprint author), Univ Alberta, Dept Pediat, Glenrose Rehabil Hosp E209, Edmonton, AB T6G 2R3, Canada.
EM jivraj.jamil@gmail.com
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NR 51
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 782
EP 793
DI 10.1177/1362361314539858
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200004
PM 24989447
ER
PT J
AU Milton, DEM
AF Milton, Damian E. M.
TI Autistic expertise: A critical reflection on the production of knowledge
in autism studies
SO AUTISM
LA English
DT Article
DE autism; expertise; knowledge production; somatic affordance; tacit
knowledge
AB The field of autism studies is a highly disputed territory within which competing contradictory discourses abound. In this field, it is the voices and claims of autistic people regarding their own expertise in knowledge production concerning autism that is most recent in the debate, and traditionally the least attended to. In this article, I utilise the theories of Harry Collins and colleagues in order to reflect upon and conceptualise the various claims to knowledge production and expertise within the field of autism studies, from the perspective of an author who has been diagnosed as being on the autism spectrum. The notion that autistic people lack sociality is problematised, with the suggestion that autistic people are not well described by notions such as the 'social brain', or as possessing 'zero degrees of cognitive empathy'. I then argue, however, that there is a qualitative difference in autistic sociality, and question to what extent such differences are of a biological or cultural nature, and to what extent interactional expertise can be gained by both parties in interactions between autistic and non-autistic people. In conclusion, I argue that autistic people have often become distrustful of researchers and their aims, and are frequently frozen out of the processes of knowledge production. Such a context results in a negative feedback spiral with further damage to the growth of interactional expertise between researchers and autistic people, and a breakdown in trust and communication leading to an increase in tension between stakeholder groups. The involvement of autistic scholars in research and improvements in participatory methods can thus be seen as a requirement, if social research in the field of autism is to claim ethical and epistemological integrity.
C1 Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Milton, DEM (reprint author), Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
EM DEM979@bham.ac.uk
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NR 46
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 OCT
PY 2014
VL 18
IS 7
SI SI
BP 794
EP 802
DI 10.1177/1362361314525281
PG 9
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200005
PM 24637428
ER
PT J
AU Johnson, RA
Danis, M
Hafner-Eaton, C
AF Johnson, Rebecca A.
Danis, Marion
Hafner-Eaton, Chris
TI US state variation in autism insurance mandates: Balancing access and
fairness
SO AUTISM
LA English
DT Article
DE autism; distributive justice; ethics; health policy; private insurance
mandates
ID SPECTRUM DISORDER; PRIVATE INSURANCE; SERVICE USE; PREVALENCE; IMPACT;
IDENTIFICATION; EXPENDITURES; CHILDREN; TRENDS; COSTS
AB This article examines how nations split decision-making about health services between federal and sub-federal levels, creating variation between states or provinces. When is this variation ethically acceptable? We identify three sources of ethical acceptability-procedural fairness, value pluralism, and substantive fairness-and examine these sources with respect to a case study: the fact that only 30 out of 51 US states or territories passed mandates requiring private insurers to offer extensive coverage of autism behavioral therapies, creating variation for privately insured children living in different US states. Is this variation ethically acceptable? To address this question, we need to analyze whether mandates go to more or less needy states and whether the mandates reflect value pluralism between states regarding government's role in health care. Using time-series logistic regressions and data from National Survey of Children with Special Health Care Needs, Individual with Disabilities Education Act, legislature political composition, and American Board of Pediatrics workforce data, we find that the states in which mandates are passed are less needy than states in which mandates have not been passed, what we call a cumulative advantage outcome that increases between-state disparities rather than a compensatory outcome that decreases between-state disparities. Concluding, we discuss the implications of our analysis for broader discussions of variation in health services provision.
C1 [Johnson, Rebecca A.; Danis, Marion] NIH, Dept Bioeth, Bethesda, MD 20892 USA.
[Hafner-Eaton, Chris] NIH, Div Sci Policy & Sci Liaison, Bethesda, MD 20892 USA.
RP Johnson, RA (reprint author), NIH, Dept Bioeth, 10 Ctr Dr, Bethesda, MD 20892 USA.
EM BJohnson88@gmail.com
CR Allin Sara, 2008, Healthc Policy, V3, P83
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NR 45
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 803
EP 814
DI 10.1177/1362361314529191
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200006
PM 24789870
ER
PT J
AU Vohra, R
Madhavan, S
Sambamoorthi, U
St Peter, C
AF Vohra, Rini
Madhavan, Suresh
Sambamoorthi, Usha
St Peter, Claire
TI Access to services, quality of care, and family impact for children with
autism, other developmental disabilities, and other mental health
conditions
SO AUTISM
LA English
DT Article
DE Access to services; autism; autism spectrum disorder health care; burden
of autism; developmental disabilities; family impact; mental health
condition; quality of care
ID SPECTRUM DISORDERS; EXPENDITURES; MEDICAID; SUPPORT; BURDEN
AB This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both.
C1 [Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire] W Virginia Univ, Morgantown, WV 26505 USA.
RP Vohra, R (reprint author), W Virginia Univ, Sch Pharm, Dept Pharmaceut Syst & Policy, POB 9510, Morgantown, WV 26505 USA.
EM rivohra@hsc.wvu.edu
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NR 35
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 815
EP 826
DI 10.1177/1362361313512902
PG 12
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200007
PM 24353274
ER
PT J
AU Pasco, G
Clark, B
Dragan, I
Kalambayi, F
Slonims, V
Tarpan, AK
Wittemeyer, K
AF Pasco, Greg
Clark, Bruce
Dragan, Ioana
Kalambayi, Fidelie
Slonims, Vicky
Tarpan, Adelaide Katerine
Wittemeyer, Kerstin
TI A training and development project to improve services and opportunities
for social inclusion for children and young people with autism in
Romania
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; awareness raising; computer-based training;
low- and middle-income countries; national campaign; Romania; training
and development
AB In 2010, the Romanian Angel Appeal Foundation launched a 3-year national training and development programme to develop and deliver a model of diagnostic and therapeutic services aimed at promoting social inclusion for children and young people with autism spectrum disorders. The project adopted a number of strategies aimed at developing knowledge and skills among professionals and increasing awareness in political and public spheres: (a) a three-stage training programme designed to increase knowledge of autism spectrum disorders and promote best practice among professionals working in services providing for children with autism spectrum disorders and their families, on a nationwide basis; (b) two online courses for general practitioners and psychiatrists, with content relating to the identification, diagnosis and treatment of autism spectrum disorders; (c) a total of 40 counselling and assistance centres for people with autism spectrum disorders were launched in partnership with local authorities; (d) a national strategy for social and professional integration of people with autism spectrum disorders developed through consultation with political, statutory and voluntary sector partners; and (e) a nationwide media campaign to raise awareness of the needs of children and young people with autism spectrum disorders that reached over eight million people. The project provides a transferable model to achieve important improvements in the quantity and quality of services on a national level within a brief time frame.
C1 [Pasco, Greg] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Clark, Bruce] South London & Maudsley NHS Fdn Trust, London, England.
[Dragan, Ioana; Tarpan, Adelaide Katerine] Romanian Angel Appeal Fdn, Bucharest, Romania.
[Kalambayi, Fidelie] Univ Bucharest, Bucharest, Romania.
[Slonims, Vicky] Kings Coll London, London SE5 8AF, England.
[Wittemeyer, Kerstin] Univ Birmingham, Birmingham B15 2TT, W Midlands, England.
RP Pasco, G (reprint author), Kings Coll London, Inst Psychiat, De Crespigny Pk, London SE5 8AF, England.
EM greg.pasco@kcl.ac.uk
CR Elsabbagh M, 2012, AUTISM RES, V5, P160, DOI 10.1002/aur.239
Frost L., 2002, PICTURE EXCHANGE COM, V2nd
Kalambayi F, 2011, INTEGRAREA ED COPIIL
Kalambayi F, 2013, EVALUAREA REZU UNPUB
Khan NZ, 2012, AUTISM RES, V5, P156, DOI 10.1002/aur.1239
NR 5
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 827
EP 831
DI 10.1177/1362361314524642
PG 5
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200008
PM 24590469
ER
PT J
AU Ho, HSW
Yi, HS
Griffiths, S
Chan, DFY
Murray, S
AF Ho, Hilda S. W.
Yi, Huso
Griffiths, Sian
Chan, Dorothy F. Y.
Murray, Stuart
TI 'Do It Yourself' in the parent-professional partnership for the
assessment and diagnosis of children with autism spectrum conditions in
Hong Kong: A qualitative study
SO AUTISM
LA English
DT Article
DE autism spectrum conditions; clinical pathway; Hong Kong;
parent-professional partnership; qualitative study
ID DISORDER; SERVICES; ELECTROACUPUNCTURE; SATISFACTION; DOCTORS; SAMPLE;
MODEL
AB Timely and appropriate care for children with autism spectrum conditions is affected by the interaction between healthcare professionals and parents. Despite the importance of the parent-professional partnership, there is a dearth of cultural-specific data on parent-professional partnership in the Chinese context. We conducted 10 in-depth life-history interviews with parents of children with autism spectrum conditions in Hong Kong who were diagnosed during preschool years. Using an interpretative phenomenological analytic method, five themes were constructed to represent the context of parent-professional partnership in Hong Kong along the pathway of seeking a diagnosis: (a) access to the assessment and diagnosis of autism spectrum conditions, (b) multiple procedures of assessment, (c) consultation prior to diagnosis and assessment, (d) communication of diagnosis and assessment result and (e) post-assessment isolation. Parental narratives highlight the important domains of parent-professional partnership and reflect the complexity of diagnosis and the lack of a cohesive system. For many parents, the assessment procedure was marred by a series of obstacles, which were further exacerbated by a poorly developed parent-professional partnership. Suggestions for parent-professional partnership development include establishing an evidence-based best practice guideline for Hong Kong, creating pre-assessment information workshops for parents to attend and equipping professionals with knowledge about autism spectrum conditions and enhanced communication skills.
C1 [Ho, Hilda S. W.; Yi, Huso; Griffiths, Sian; Chan, Dorothy F. Y.] Chinese Univ Hong Kong, Shatin, Hong Kong, Peoples R China.
[Murray, Stuart] Univ Leeds, Leeds LS2 9JT, W Yorkshire, England.
RP Yi, HS (reprint author), Chinese Univ Hong Kong, Hlth Eth & Med Humanities Unit, Ctr Global Hlth, Jockey Club Sch Publ Hlth & Primary Care, Shatin, Hong Kong, Peoples R China.
EM husoyi@cuhk.edu.hk
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Shea V, 1993, PRESCHOOL ISSUES AUT, P185
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NR 45
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD OCT
PY 2014
VL 18
IS 7
SI SI
BP 832
EP 844
DI 10.1177/1362361313508230
PG 13
WC Psychology, Developmental
SC Psychology
GA AQ2SH
UT WOS:000342638200009
PM 24129911
ER
PT J
AU Andersen, SL
Laurberg, P
Wu, CS
Olsen, J
AF Andersen, S. L.
Laurberg, P.
Wu, C. S.
Olsen, J.
TI Attention deficit hyperactivity disorder and autism spectrum disorder in
children born to mothers with thyroid dysfunction: a Danish nationwide
cohort study
SO BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
LA English
DT Article
DE Attention deficit hyperactivity disorder; autism spectrum disorder;
hyperthyroidism; hypothyroidism; pregnancy
ID BRAIN-DEVELOPMENT; EARLY-PREGNANCY; NEURODEVELOPMENTAL DISORDERS;
AUTOIMMUNE-DISEASES; GLUCOSE-METABOLISM; FOLLOW-UP; HYPOTHYROIDISM;
HYPERTHYROIDISM; EPIDEMIOLOGY; HORMONE
AB ObjectiveTo examine the association between maternal hyper- and hypothyroidism and the risk of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in the child.
DesignA population-based cohort study.
SettingSingletons liveborn in Denmark between 1991 and 2004.
PopulationA total of 857014 singletons alive and living in Denmark at the age of 3years.
MethodsInformation on the diagnosis and/or treatment of maternal thyroid disease and the neurodevelopmental disorders ADHD and ASD in the child was obtained from Danish nationwide registers. The Cox proportional hazards model was used to estimate the hazard ratio (HR) with 95% confidence interval (95% CI) for risk of ADHD and ASD in children born to mothers with thyroid dysfunction, adjusting for potential confounding factors.
Main outcome measuresADHD and ASD in the child.
ResultsAltogether, 30295 singletons (3.5%) were born to mothers with thyroid dysfunction. Maternal hyperthyroidism diagnosed and treated for the first time after the birth of the child increased the risk of ADHD in the child (adjusted HR 1.23; 95% CI 1.05-1.44), whereas hypothyroidism increased the risk of ASD (adjusted HR 1.34; 95% CI 1.14-1.59). No significant association was seen for maternal diagnosis and treatment prior to the birth of the child.
ConclusionsChildren born to mothers diagnosed and treated for the first time for thyroid dysfunction after their birth may have been exposed to abnormal levels of maternal thyroid hormone already present during the pregnancy, and this untreated condition could increase the risk of specific neurodevelopmental disorders in the child.
C1 [Andersen, S. L.; Laurberg, P.] Aalborg Univ, Dept Clin Med, Aalborg, Denmark.
[Andersen, S. L.; Laurberg, P.] Aalborg Univ, Dept Endocrinol, Aalborg, Denmark.
[Andersen, S. L.; Laurberg, P.] Aalborg Univ Hosp, DK-9000 Aalborg, Denmark.
[Wu, C. S.; Olsen, J.] Aarhus Univ, Dept Publ Hlth, Epidemiol Sect, Aarhus, Denmark.
RP Andersen, SL (reprint author), Aalborg Univ Hosp, Dept Endocrinol, Sdr Skovvej 15, DK-9000 Aalborg, Denmark.
EM stine.a@rn.dk
RI Olsen, Jorn/F-8801-2015
OI Olsen, Jorn/0000-0001-7462-5140
FU Danish Medical Research Council [FSS: 12-32232]
FX C.S.W. is supported by individual postdoctoral grants from the Danish
Medical Research Council (FSS: 12-32232).
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NR 46
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1470-0328
EI 1471-0528
J9 BJOG-INT J OBSTET GY
JI BJOG
PD OCT
PY 2014
VL 121
IS 11
BP 1365
EP 1374
DI 10.1111/1471-0528.12681
PG 10
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AQ3CU
UT WOS:000342667300007
PM 24605987
ER
PT J
AU Libero, LE
Stevens, CE
Kana, RK
AF Libero, Lauren E.
Stevens, Carl E., Jr.
Kana, Rajesh K.
TI Attribution of Emotions to Body Postures: An Independent Component
Analysis Study of Functional Connectivity in Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism; fMRI; independent component analysis; functional connectivity;
emotion; body postures
ID MIRROR NEURON SYSTEM; INFERIOR FRONTAL-CORTEX; SPECTRUM DISORDERS;
CORTICAL ACTIVATION; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; IMITATION
IMPAIRMENTS; MAGNETIC STIMULATION; SOCIAL ATTENTION; BRAIN MECHANISMS
AB The ability to interpret others' body language is a vital skill that helps us infer their thoughts and emotions. However, individuals with autism spectrum disorder (ASD) have been found to have difficulty in understanding the meaning of people's body language, perhaps leading to an overarching deficit in processing emotions. The current fMRI study investigates the functional connectivity underlying emotion and action judgment in the context of processing body language in high-functioning adolescents and young adults with autism, using an independent components analysis (ICA) of the fMRI time series. While there were no reliable group differences in brain activity, the ICA revealed significant involvement of occipital and parietal regions in processing body actions; and inferior frontal gyrus, superior medial prefrontal cortex, and occipital cortex in body expressions of emotions. In a between-group analysis, participants with autism, relative to typical controls, demonstrated significantly reduced temporal coherence in left ventral premotor cortex and right superior parietal lobule while processing emotions. Participants with ASD, on the other hand, showed increased temporal coherence in left fusiform gyrus while inferring emotions from body postures. Finally, a positive predictive relationship was found between empathizing ability and the brain areas underlying emotion processing in ASD participants. These results underscore the differential role of frontal and parietal brain regions in processing emotional body language in autism. Hum Brain Mapp 35:5204-5218, 2014. (c) 2014 Wiley Periodicals, Inc.
C1 [Libero, Lauren E.; Stevens, Carl E., Jr.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology; McNulty-Civitan Scientist Award
FX Contract grant sponsors: UAB Department of Psychology and the
McNulty-Civitan Scientist Award (to R.K.).
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NR 124
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD OCT
PY 2014
VL 35
IS 10
BP 5204
EP 5218
DI 10.1002/hbm.22544
PG 15
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AQ3CV
UT WOS:000342667400019
PM 24838987
ER
PT J
AU Harrison, AJ
Zimak, EH
Sheinkopf, SJ
Manji, KP
Morrow, EM
AF Harrison, Ashley J.
Zimak, Eric H.
Sheinkopf, Stephen J.
Manji, Karim P.
Morrow, Eric M.
TI Observation-centered Approach to ASD Assessment in Tanzania
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE ASD; autism; assessment; CARS2; Africa; Tanzania; global mental health;
developmental delays
ID AUTISM SPECTRUM DISORDERS; MIDDLE-INCOME COUNTRIES; CHILDHOOD AUTISM;
UGANDAN CHILDREN; RATING-SCALE; DIAGNOSIS; CLASSIFICATION;
COMMUNICATION; ADOLESCENTS; VALIDATION
AB In many lower-income countries, there is a paucity of assessment services for autism spectrum disorders (ASD)., Guidelines will be provided for conducting cross-cultural assessments in the context of limited validated resources in Tanzania. By examining behavioral, social, and adaptive differences we were able to provide differential diagnostic evaluations aligning with best practice standards for 41 children in Tanzania age 2-21 years. We describe the utility of a flexible, behavioral observation instrument, the Childhood Autism Rating Scales, Second Edition (CARS2), to gather diagnostic information in a culturally sensitive manner. We observed that the ASD group was characterized by significantly higher scores on the CARS2, F = 21.09, p < .001, eta(2) = .37, than the general delay comparison group. Additional recommendations are provided for making cultural adaptations to current assessment instruments for use in a country without normed instruments, such as Tanzania.
C1 [Harrison, Ashley J.; Zimak, Eric H.; Sheinkopf, Stephen J.; Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Alpert Med Sch, Providence, RI 02912 USA.
[Manji, Karim P.] Muhimbili Univ Hlth & Allied Sci, Dept Pediat, Dar Es Salaam, Tanzania.
RP Harrison, AJ (reprint author), Bradley Hosp, Dev Disorders Res Program, 1011 Vet Mem Pkwy, Providence, RI 02906 USA.
EM Ashley_johnson@brown.edu
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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World Health Organization, 2013, WORLD HLTH STAT
NR 52
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD OCT
PY 2014
VL 52
IS 5
BP 330
EP 347
DI 10.1352/1934-9556-52.5.330
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VX
UT WOS:000342722700002
PM 25247726
ER
PT J
AU Liu, EX
Carter, EW
Boehm, TL
Annandale, NH
Taylor, CE
AF Liu, Eleanor X.
Carter, Erik W.
Boehm, Thomas L.
Annandale, Naomi H.
Taylor, Courtney E.
TI In Their Own Words: The Place of Faith in the Lives of Young People With
Autism and Intellectual Disability
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Religion; spirituality; transition; autism; severe disabilities; faith
formation
ID DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN; ADULTS;
SPIRITUALITY; RELIGION; CHURCH; PARTICIPATION; PERSPECTIVES; INDIVIDUALS
AB Although the prominence of spirituality and religious connections among the people of the United States is well documented, little is known about the place of faith in the lives of youth with developmental disabilities. In this qualitative interview study, we examined the perspectives of 20 young people with intellectual disability or autism on their faith, spiritual expressions, and disability. Participants identified key spiritual expressions and themes reflecting the importance of faith in their lives. They also shared perceptions of their disability in the context of their faith, highlighting affirmation and acceptance of their disability. We offer recommendations to families, faith communities, and service systems for supporting the spiritual formation, expression, and connections of young people with disabilities.
C1 [Liu, Eleanor X.; Carter, Erik W.; Boehm, Thomas L.; Annandale, Naomi H.; Taylor, Courtney E.] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Carter, EW (reprint author), Vanderbilt Univ, Dept Special Educ, Peabody Coll, PMB 228, Nashville, TN 37203 USA.
EM erik.carter@vanderbilt.edu
CR Ault MJ, 2013, INTELLECT DEV DISAB, V51, P48, DOI 10.1352/1934-9556-51.01.048
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Vogel G, 2003, EDUC TRAIN DEV DISAB, V38, P314
Webster AA, 2007, J INTELLECT DEV DIS, V32, P200, DOI 10.1080/13668250701549443
NR 23
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD OCT
PY 2014
VL 52
IS 5
BP 388
EP 404
DI 10.1352/1934-9556-52.5.388
PG 17
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AQ3VX
UT WOS:000342722700006
PM 25247730
ER
PT J
AU Piper, BJ
Gray, HM
Raber, J
Birkett, MA
AF Piper, Brian J.
Gray, Hilary M.
Raber, Jacob
Birkett, Melissa A.
TI Reliability and validity of Brief Problem Monitor, an abbreviated form
of the Child Behavior Checklist
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE adolescents; anxiety; children; reliability; validity
ID AGED 6-11; QUESTIONNAIRE; PROFILE; DISORDERS; SUPPORT
AB AimThe parent form of the 113-item Child Behavior Checklist (CBCL) is widely utilized by child psychiatrists and psychologists. This report examines the reliability and validity of a recently developed abbreviated version of the CBCL, the Brief Problem Monitor (BPM).
MethodsCaregivers (n=567) completed the CBCL online and the 19 BPM items were examined separately.
ResultsInternal consistency of the BPM was high (Cronbach's alpha=0.91) and satisfactory for the Internalizing (0.78), Externalizing (0.86), and Attention (0.87) scales. High correlations between the CBCL and BPM were identified for the total score (r=0.95) as well as the Internalizing (0.86), Externalizing (0.93), and Attention (0.97) scales. The BPM and scales were sensitive and identified significantly higher behavioral and emotional problems among children whose caregiver reported a psychiatric diagnosis of attention-deficit hyperactivity disorder, bipolar disorder, depression, anxiety, developmental disabilities, or autism spectrum disorders relative to a comparison group that had not been diagnosed with these disorders. BPM ratings also differed by the socioeconomic status and education of the caregiver. Mothers with higher annual incomes rated their children as having 38.8% fewer total problems (Cohen's d=0.62) as well as 42.8% lower Internalizing (d=0.53), 44.1% less Externalizing (d=0.62), and 30.9% decreased Attention (d=0.39). A similar pattern was evident for maternal education (d=0.30-0.65).
ConclusionOverall, these findings provide strong psychometric support for the BPM, although the differences based on the characteristics of the parent indicate that additional information from other sources (e.g., teachers) should be obtained to complement parental reports.
C1 [Piper, Brian J.] Husson Univ, Dept Basic Pharmaceut Sci, Bangor, ME USA.
[Piper, Brian J.; Gray, Hilary M.; Raber, Jacob] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
[Raber, Jacob] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA.
[Raber, Jacob] Oregon Hlth & Sci Univ, Dept Radiat Med, Portland, OR 97201 USA.
[Gray, Hilary M.] Portland State Univ, Dept Counselor Educ, Portland, OR 97207 USA.
[Birkett, Melissa A.] No Arizona Univ, Dept Psychol, Flagstaff, AZ 86011 USA.
RP Piper, BJ (reprint author), Husson Univ, One Coll Circle, Dept Basic Pharmaceut Sci, Bangor, ME 04401 USA.
EM psy391@gmail.com
FU Oregon Clinical Translational Research Institute [UL1 RR024140];
National Institute of Environmental Health Sciences [T32 ES007060-31A1];
National Institute of Drug Abuse [L30 DA027582-01]; Husson School of
Pharmacy
FX This work was supported by the Oregon Clinical Translational Research
Institute (UL1 RR024140), the National Institute of Environmental Health
Sciences (T32 ES007060-31A1), the National Institute of Drug Abuse (L30
DA027582-01), and the Husson School of Pharmacy. We would like to
express our special thanks to the research participants. All authors
report no relevant conflicts of interest.
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NR 32
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1323-1316
EI 1440-1819
J9 PSYCHIAT CLIN NEUROS
JI Psychiatry Clin. Neurosci.
PD OCT
PY 2014
VL 68
IS 10
BP 759
EP 767
DI 10.1111/pcn.12188
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AQ4KB
UT WOS:000342763800004
PM 24735087
ER
PT J
AU Almeida, RA
Dickinson, JE
Maybery, MT
Badcock, JC
Badcock, DR
AF Almeida, Renita A.
Dickinson, J. Edwin
Maybery, Murray T.
Badcock, Johanna C.
Badcock, David R.
TI Enhanced global integration of closed contours in individuals with high
levels of autistic-like traits
SO VISION RESEARCH
LA English
DT Article
DE Autism-spectrum Quotient; Global contour integration; Visual search;
Embedded Figures Test; Radial frequency patterns; Visual processing
ID WEAK CENTRAL COHERENCE; VISUAL-SEARCH; SPECTRUM DISORDERS; FUNCTIONING
AUTISM; PERCEPTION; SUPERIOR; SHAPE; CHILDREN; TASK; CUES
AB Individuals with autistic traits (measured with Autism-spectrum Quotient, AQ) often excel in detecting shapes hidden within complex structures (e.g. on the Embedded Figures Test, EFT). This facility has been attributed to either weaker global integration of scene elements or enhanced local processing, but 'local' and 'global' have various meanings in the literature. The function of specific global visual mechanisms involved in integrating contours, similar to EFT targets was examined. High AQ scorers produced enhanced performance on the EFT and an alternative Radial Frequency Search Task. Contrary to 'generic' interpretations of weaker global pooling, this group displayed stronger pooling of contour components that was correlated with search ability. This study therefore shows a global contour integration advantage in high AQ observers. Crown Copyright (C) 2014 Published by Elsevier Ltd. All rights reserved.
C1 [Almeida, Renita A.; Dickinson, J. Edwin; Maybery, Murray T.; Badcock, Johanna C.; Badcock, David R.] Univ Western Australia, Sch Psychol, Crawley, WA 6009, Australia.
[Badcock, Johanna C.] Graylands Hosp, Ctr Clin Res Neuropsychiat, Mt Claremont, WA, Australia.
RP Badcock, DR (reprint author), Univ Western Australia, Sch Psychol M304, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM david.badcock@uwa.edu.au
RI Badcock, Johanna/C-3682-2013
OI Badcock, Johanna/0000-0003-4629-2929
FU Australian Research Council [DP0666206, DP1097003, DP110104553]
FX This research was supported by Australian Research Council Grants
DP0666206, DP1097003 and DP110104553 to D.R.B.
CR Almeida RA, 2010, NEUROPSYCHOLOGIA, V48, P374, DOI 10.1016/j.neuropsychologia.2009.09.024
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NR 50
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0042-6989
EI 1878-5646
J9 VISION RES
JI Vision Res.
PD OCT
PY 2014
VL 103
BP 109
EP 115
DI 10.1016/j.visres.2014.08.015
PG 7
WC Neurosciences; Ophthalmology
SC Neurosciences & Neurology; Ophthalmology
GA AQ2GH
UT WOS:000342603300012
PM 25175114
ER
PT J
AU Beamer, JA
Yun, J
AF Beamer, Jennifer A.
Yun, Joonkoo
TI Physical Educators' Beliefs and Self Reported Behaviors Toward Including
Students With Autism Spectrum Disorder
SO ADAPTED PHYSICAL ACTIVITY QUARTERLY
LA English
DT Article
DE physical education; disability; inclusion
ID PLANNED BEHAVIOR; TEACHING STUDENTS; TEACHERS BELIEFS; INCLUSION;
DISABILITIES; ATTITUDES; ATTRIBUTES; CHILDREN
AB With an increase in the presence of students with autism spectrum disorder (ASD) in the general physical education (GPE) classroom, understanding the current state of GPE teachers' beliefs and behaviors for including these students is warranted. The current study aimed to examine the beliefs and self-reported behaviors of GPE teachers' inclusion of students with ASD. In addition, the study examined potential factors affecting their inclusion behaviors. Using a national stratified random sample, participants were 142 current GPE teachers who submitted surveys anonymously online. Results from a regression analysis indicate that teachers' experience, graduate coursework in adapted physical education (APE), and perceptions of strength in undergraduate training in APE significantly predicted their self-reported behavior for including students with ASD. Although the participant response rate is considerably low, this study provides some support toward the importance of teacher education programs for inclusion training.
C1 [Beamer, Jennifer A.; Yun, Joonkoo] Oregon State Univ, Sch Biol & Populat Hlth Sci, Corvallis, OR 97331 USA.
RP Beamer, JA (reprint author), Oregon State Univ, Sch Biol & Populat Hlth Sci, Corvallis, OR 97331 USA.
EM Jennifer.beamer@oregonstate.edu
FU U.S. Department of Education [H325D060051]
FX The contents of this manuscript were in part developed under a grant
from the U.S. Department of Education, #H325D060051. However, the
contents do not necessarily represent the policy of the U.S. Department
of Education, and you should not assume endorsement by the federal
government.
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NR 35
TC 1
Z9 1
PU HUMAN KINETICS PUBL INC
PI CHAMPAIGN
PA 1607 N MARKET ST, PO BOX 5076, CHAMPAIGN, IL 61820-2200 USA
SN 0736-5829
EI 1543-2777
J9 ADAPT PHYS ACT Q
JI Adapt. Phys. Act. Q.
PD OCT
PY 2014
VL 31
IS 4
BP 362
EP 376
DI 10.1123/apaq.2014-0134
PG 15
WC Rehabilitation; Sport Sciences
SC Rehabilitation; Sport Sciences
GA AQ2FR
UT WOS:000342601700005
PM 25211482
ER
PT J
AU Aypar, U
Brodersen, PR
Lundquist, PA
Dawson, DB
Thorland, EC
Hoppman, N
AF Aypar, Umut
Brodersen, Pamela R.
Lundquist, Patrick A.
Dawson, D. Brian
Thorland, Erik C.
Hoppman, Nicole
TI Does Parent of Origin Matter? Methylation Studies Should be Performed on
Patients with Multiple Copies of the Prader-Willi/Angelman Syndrome
Critical Region
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE 15q11.2-q13; PWASCR; autism; array CGH; MS-MLPA
ID WILLI-SYNDROME; ANGELMAN SYNDROME; INV DUP(15)
AB Deletion of 15q11.2-q13 results in either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) depending on the parent of origin. Duplication of the PWS/AS critical region(PWASCR) has also been reported in association with developmental delay and autism, and it has been shown that they also show a parent-of-origin effect. It is generally accepted that maternal duplications are pathogenic. However, there is conflicting evidence as to the pathogenicity of paternal duplications. We have identified 35 patients with gain of the PWASCR using array comparative genomic hybridization. Methylation testing was performed to determine parent of origin of the extra copies. Of the 35 cases, 22 had a supernumerary marker chromosome 15 (SMC15), 12 had a tandem duplication, and 1 had a tandem triplication. Only one patient had a paternal duplication; this patient does not have features typical of patients with maternal duplication of the PWASCR. Three of the mothers had a tandem duplication (two were paternal and one was maternal origin). While one of the two mothers with paternal duplication was noted not to have autism, the other was noted to have learning disability and depression. Based on our data, we conclude that SMC15 are almost exclusively maternal in origin and result in an abnormal phenotype. Tandem duplications/triplications are generally of maternal origin when ascertained on the basis of abnormal phenotype; however, tandem duplications of paternal origin have also been identified. Therefore, we suggest that methylation testing be performed for cases of tandem duplications/triplications since the pathogenicity of paternal gains is uncertain. (C) 2014 Wiley Periodicals, Inc.
C1 [Aypar, Umut; Brodersen, Pamela R.; Thorland, Erik C.; Hoppman, Nicole] Mayo Clin, Dept Lab Med & Pathol, Cytogenet Lab, Rochester, MN 55905 USA.
[Lundquist, Patrick A.; Dawson, D. Brian] Mayo Clin, Dept Lab Med & Pathol, Mol Genet Lab, Rochester, MN 55905 USA.
RP Hoppman, N (reprint author), Mayo Clin, Dept Lab Med & Pathol, Cytogenet Lab, 971 Hilton,200 1st St SW, Rochester, MN 55905 USA.
EM hoppman.nicole@mayo.edu
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NR 11
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Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD OCT
PY 2014
VL 164A
IS 10
BP 2514
EP 2520
DI 10.1002/ajmg.a.36663
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AP7TM
UT WOS:000342279600017
PM 24975781
ER
PT J
AU Cuccaro, ML
Czape, K
Alessandri, M
Lee, J
Deppen, AR
Bendik, E
Dueker, N
Nations, L
Pericak-Vance, M
Hahn, S
AF Cuccaro, Michael L.
Czape, Kayla
Alessandri, Michael
Lee, Joycelyn
Deppen, Abigail Rupchock
Bendik, Elise
Dueker, Nicole
Nations, Laura
Pericak-Vance, Margaret
Hahn, Susan
TI Genetic Testing and Corresponding Services Among Individuals With Autism
Spectrum Disorder (ASD)
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE autism spectrum disorder; genetic testing; parental attitudes; survey
research
ID RISK; RECURRENCE
AB The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments. (C) 2014 Wiley Periodicals, Inc.
C1 [Cuccaro, Michael L.; Czape, Kayla; Lee, Joycelyn; Deppen, Abigail Rupchock; Bendik, Elise; Dueker, Nicole; Pericak-Vance, Margaret; Hahn, Susan] Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Dr John T McDonald Dept Human Genet, Miami, FL 33136 USA.
[Alessandri, Michael] Univ Miami, Dept Psychol, Coral Gables, FL 33124 USA.
[Nations, Laura] Univ N Carolina, Sch Med, Carolina Inst Intellectual Disabil, Chapel Hill, NC USA.
RP Cuccaro, ML (reprint author), Dept Human Genet, 1501 NW 10th Ave,M-860, Miami, FL 33136 USA.
EM mcuccaro@med.miami.edu
FU National Institute of Mental Health [MH080647]
FX Grant sponsor: National Institute of Mental Health; Grant number:
MH080647.
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NR 25
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD OCT
PY 2014
VL 164A
IS 10
BP 2592
EP 2600
DI 10.1002/ajmg.a.36698
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AP7TM
UT WOS:000342279600027
PM 25131847
ER
PT J
AU Fleury, VP
Miramontez, SH
Hudson, RF
Schwartz, IS
AF Fleury, Veronica P.
Miramontez, Shane Herriott
Hudson, Roxanne F.
Schwartz, Ilene S.
TI Promoting active participation in book reading for preschoolers with
Autism Spectrum Disorder: A preliminary study
SO CHILD LANGUAGE TEACHING & THERAPY
LA English
DT Article
DE Autism spectrum disorder; dialogic reading; emergent literacy;
intervention; preschool
ID ACCELERATING LANGUAGE-DEVELOPMENT; JOINT ATTENTION; YOUNG-CHILDREN;
DAY-CARE; INTERVENTION; SINGLE; PARENT; HOME; COMPREHENSION;
DISABILITIES
AB A common literacy practice in early childhood classrooms is reading aloud to children. Little is known, however, about the quality of engagement in shared reading activities for young children with Autism Spectrum Disorders (ASD). Dialogic reading is one method of shared reading in which adults encourage children to actively participate in the reading process by asking them a variety of questions while reading a book The current study used a multiple baseline design across participants to examine the effect of a dialogic reading intervention on book reading participation for three preschool boys with ASD. Compared to baseline book readings, dialogic book reading resulted in increased rates of child verbal participation and longer duration spent engaged with printed materials. Based on these preliminary findings we suggest that this reading strategy may be a promising practice for early childhood educators that warrants further exploration.
C1 [Schwartz, Ilene S.] Univ Washington, Haring Ctr, Seattle, WA 98195 USA.
[Fleury, Veronica P.] Univ N Carolina, Frank Porter Graham Child Dev Inst, IES Postdoctoral Training Program Special Educ Re, Chapel Hill, NC 27599 USA.
RP Fleury, VP (reprint author), Univ N Carolina, Frank Porter Graham Child Dev Inst, CB 8040, Chapel Hill, NC 27599 USA.
EM veronica.fleury@unc.edu
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Wells G., 1985, LANGUAGE DEV PRESCHO
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NR 62
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0265-6590
EI 1477-0865
J9 CHILD LANG TEACH THE
JI Child Lang. Teach. Ther.
PD OCT
PY 2014
VL 30
IS 3
BP 273
EP 288
DI 10.1177/0265659013514069
PG 16
WC Education, Special; Linguistics; Language & Linguistics
SC Education & Educational Research; Linguistics
GA AP9IA
UT WOS:000342392300003
ER
PT J
AU Mouridsen, SE
Rich, B
Isager, T
AF Mouridsen, Svend Erik
Rich, Bente
Isager, Torben
TI The Sex Ratio of Full and Half Siblings of People Diagnosed with an
Autism Spectrum Disorder: A Danish Nationwide Register Study
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Autism spectrum disorder; Sex ratio; Extreme male brain theory of
autism; Testosterone
ID FETAL TESTOSTERONE; DIGIT RATIO; CHILDREN; BRAIN; PSYCHOPATHOLOGY;
HORMONE; COHORT; 2ND
AB In the extreme male brain theory of autism sex steroid hormones are hypothesized to influence brain development and to mediate sex differences in developmental psychopathology. Within this scope we examined the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASD). We did a nationwide, register based cohort study of the sex ratio in 17,380 siblings of the 10,297 patients diagnosed with ASD at age 17 years and younger and registered in the nationwide Danish Psychiatric Central Register between 1994 and 2012. Among the 17,380 siblings 8,828 were males and 8,552 females. This yields a sex ratio of 0.508, which is not different from the Danish live birth sex ratio of 0.513 during the relevant years (P = 0.18). Overall, our findings provide no support for the hypothesis that there are relatively more males among the siblings of people with ASD. Accordingly, our results do not give support to the extreme male brain theory of autism.
C1 [Mouridsen, Svend Erik] Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark.
[Isager, Torben] Glostrup Univ Hosp, Child & Adolescent Psychiat Ctr, Glostrup, Denmark.
RP Mouridsen, SE (reprint author), Bispebjerg Hosp, Child & Adolescent Psychiat Ctr, DK-2400 Copenhagen, Denmark.
EM Svend.Erik.Mouridsen@regionh.dk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Auyeung B, 2012, MOL AUTISM, V3, DOI 10.1186/2040-2392-3-17
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NR 37
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0009-398X
EI 1573-3327
J9 CHILD PSYCHIAT HUM D
JI Child Psychiat. Hum. Dev.
PD OCT
PY 2014
VL 45
IS 5
BP 493
EP 499
DI 10.1007/s10578-013-0419-1
PG 7
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9OY
UT WOS:000342410300001
PM 24213328
ER
PT J
AU Spreiz, A
Haberlandt, E
Baumann, M
Sigl, SB
Fauth, C
Gautsch, K
Karall, D
Janetschek, C
Rostasy, K
Scholl-Burgi, S
Zotter, S
Utermann, G
Zschocke, J
Kotzot, D
AF Spreiz, A.
Haberlandt, E.
Baumann, M.
Sigl, S. Baumgartner
Fauth, C.
Gautsch, K.
Karall, D.
Janetschek, C.
Rostasy, K.
Scholl-Buergi, S.
Zotter, S.
Utermann, G.
Zschocke, J.
Kotzot, D.
TI Chromosomal microaberrations in patients with epilepsy, intellectual
disability, and congenital anomalies
SO CLINICAL GENETICS
LA English
DT Article
DE deletion; duplication; epilepsy; intellectual disability; SNP array
ID COPY-NUMBER VARIANTS; COMPARATIVE-GENOMIC-HYBRIDIZATION;
ENCEPHALOPATHIES; MECHANISMS; DISORDERS; CHILDREN; AUTISM
AB Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number variations (CNVs) in 5-30% of patients with epilepsy with or without co-morbidities. The interpretation of many of the detected CNVs remains challenging. In order to identify CNVs carrying epilepsy-related genes we investigated 43 children with various patterns of epileptic seizures, intellectual disability (ID), and minor dysmorphism, using the Illumina (R) Infinium Human1M-DuoV1 array. In three patients we found likely causative de novoCNVs, i.e. deletions in 1q41q42.12 (3.4 Mb) and 19p13.2 (834 kb), and a mosaic two-segment duplication in 17p13.2 (218 kb) and 17p13.1 (422 kb). In six additional patients there were aberrations (a deletion in one and duplications in five patients) with uncertain clinical consequences. In total, the finding of causative chromosomal micro-rearrangements in 3 out of 43 patients (7%) and potentially causative CNVs in 6 additional patients (14%) with epilepsy and ID but without major malformations confirms the power of DNA arrays for the detection of new disease-related genetic regions.
C1 [Spreiz, A.; Fauth, C.; Utermann, G.; Zschocke, J.; Kotzot, D.] Med Univ Innsbruck, Dept Med Genet Mol & Clin Pharmacol, Div Human Genet, A-6020 Innsbruck, Austria.
[Haberlandt, E.; Baumann, M.; Sigl, S. Baumgartner; Karall, D.; Janetschek, C.; Rostasy, K.; Scholl-Buergi, S.; Zotter, S.] Med Univ Innsbruck, Clin Dept Pediat 1, A-6020 Innsbruck, Austria.
[Gautsch, K.] Med Univ Innsbruck, Dept Radiol 2, A-6020 Innsbruck, Austria.
RP Kotzot, D (reprint author), Dept Med Genet Mol & Clin Pharmacol, Div Human Genet, Schoepfstr 41A, A-6020 Innsbruck, Austria.
EM DieterKotzot@gmx.de
FU Medizinischer Forderfonds Innsbruck [2007411]; Osterreichische
Nationalbank [13004]
FX The authors thank the patients and their families for their willingness
to participate in this study. This work was supported by grants of the
Medizinischer Forderfonds Innsbruck to EH (Nr. 2007411) and the
Osterreichische Nationalbank to D. Ko (Nr. 13004).
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NR 26
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0009-9163
EI 1399-0004
J9 CLIN GENET
JI Clin. Genet.
PD OCT
PY 2014
VL 86
IS 4
BP 361
EP 366
DI 10.1111/cge.12288
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8PV
UT WOS:000342341900009
PM 24116836
ER
PT J
AU Manera, V
Samson, AC
Pehrs, C
Lee, IA
Gross, JJ
AF Manera, Valeria
Samson, Andrea C.
Pehrs, Corinna
Lee, Ihno A.
Gross, James J.
TI The Eyes Have It: The Role of Attention in Cognitive Reappraisal of
Social Stimuli
SO EMOTION
LA English
DT Article
DE Emotion regulation; cognitive reappraisal; attention; eye-tracking
ID AUTISM SPECTRUM DISORDER; HIGH-FUNCTIONING AUTISM; EMOTION REGULATION;
ELECTROCORTICAL RESPONSE; UNPLEASANT PICTURES; EXPRESSIVE SUPPRESSION;
NEGATIVE AFFECT; CONSEQUENCES; MODULATION; FACES
AB Cognitive reappraisal (CR) is a commonly used emotion-regulation strategy that has been shown to influence affective, cognitive, and social outcomes. Although progress has been made in elucidating the mechanisms underlying CR, the role of attention remains unclear. In the present study, we investigated the role of attention in CR by tracking participants' gazes during the presentation of videos depicting people in negative moods. Participants were asked to attend naturally or to use reappraisal to increase or decrease their emotions while viewing the videos. After each video, they rated their negative emotion experience. Results showed that participants spent more time looking at the emotional regions in the target's face (eyes and mouth) when asked to up-regulate their emotions, compared with when they simply attended to the videos. The reverse pattern was found for down-regulation of emotions. In addition, the effects of cognitive reappraisal on negative emotion experience were mediated by the time spent looking at the emotional regions, with a stronger effect for the down-regulation instruction. Finally, direct effects of regulation instruction on negative emotion were observed even when controlling for time spent viewing emotional regions, which suggests that attention and CR are distinct components that uniquely influence negative emotions. These results complement and extend previous findings on the role of attention in CR, and highlight the importance of taking attentional mechanisms into account when designing CR training.
C1 [Manera, Valeria] Univ Nice Sophia Antipolis, Fac Med, F-06100 Nice, France.
[Samson, Andrea C.; Lee, Ihno A.; Gross, James J.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
[Pehrs, Corinna] Free Univ Berlin, Cluster Excellence Languages Emot, Berlin, Germany.
[Pehrs, Corinna] Free Univ Berlin, Dept Educ & Psychol, Berlin, Germany.
RP Manera, V (reprint author), Univ Nice Sophia Antipolis, Fac Med, Inst Claude Pompidou, 10 Rue Moliere, F-06100 Nice, France.
EM valeria.manera@unice.fr
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Urry HL, 2010, EMOTION, V10, P125, DOI 10.1037/a0017434
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NR 44
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1528-3542
EI 1931-1516
J9 EMOTION
JI Emotion
PD OCT
PY 2014
VL 14
IS 5
BP 833
EP 839
DI 10.1037/a0037350
PG 7
WC Psychology, Experimental
SC Psychology
GA AQ0WH
UT WOS:000342502900001
PM 25046244
ER
PT J
AU Ceroni, F
Simpson, NH
Francks, C
Baird, G
Conti-Ramsden, G
Clark, A
Bolton, PF
Hennessy, ER
Donnelly, P
Bentley, DR
Martin, H
Parr, J
Pagnamenta, AT
Maestrini, E
Bacchelli, E
Fisher, SE
Newbury, DF
AF Ceroni, Fabiola
Simpson, Nuala H.
Francks, Clyde
Baird, Gillian
Conti-Ramsden, Gina
Clark, Ann
Bolton, Patrick F.
Hennessy, Elizabeth R.
Donnelly, Peter
Bentley, David R.
Martin, Hilary
Parr, Jeremy
Pagnamenta, Alistair T.
Maestrini, Elena
Bacchelli, Elena
Fisher, Simon E.
Newbury, Dianne F.
CA IMGSAC
SLI Consortium
WGS500 Consortium
TI Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific
language impairment
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE ZNF277; SLI; language
ID AUTISM SPECTRUM DISORDERS; HIDDEN-MARKOV MODEL; SNP GENOTYPING DATA;
CELL SELF-RENEWAL; EARLY ADULT LIFE; COPY-NUMBER; FOLLOW-UP; GENOMIC
SCREEN; CHROMOSOME 7Q; MUTATIONS
AB Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband's affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
C1 [Ceroni, Fabiola; Maestrini, Elena; Bacchelli, Elena] Univ Bologna, Dipartimento Farm & Biotecnol, Bologna, Italy.
[Simpson, Nuala H.; Donnelly, Peter; Martin, Hilary; Pagnamenta, Alistair T.; Newbury, Dianne F.; SLI Consortium; WGS500 Consortium] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
[Francks, Clyde] Max Planck Inst Psycholinguist, Nijmegen, Netherlands.
[Francks, Clyde; Fisher, Simon E.] Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands.
[Baird, Gillian] St Thomas Hosp, Guys & St Thomas NHS Fdn Trust, Newcomen Childrens Neurosci Ctr, London, England.
[Conti-Ramsden, Gina] Univ Manchester, Sch Psychol Sci, Manchester, Lancs, England.
[Clark, Ann] Queen Margaret Univ, Edinburgh, Midlothian, Scotland.
[Bolton, Patrick F.] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London, England.
[Bolton, Patrick F.] Kings Coll London, Inst Psychiat, Dept Social Genet, London, England.
[Bolton, Patrick F.] Kings Coll London, Dev Psychiat Ctr, Inst Psychiat, London, England.
[Hennessy, Elizabeth R.] Univ Aberdeen, Univ Child Hlth, Aberdeen, Scotland.
[Hennessy, Elizabeth R.] Univ Aberdeen, DMDE, Aberdeen, Scotland.
[Bentley, David R.] Illumina Cambridge Ltd, Saffron Walden, Essex, England.
[Parr, Jeremy; IMGSAC] Newcastle Univ, Inst Neurosci & Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Pagnamenta, Alistair T.] NIHR Biomed Res Ctr, Oxford, England.
[Pagnamenta, Alistair T.] Univ Oxford, Oxford, England.
RP Newbury, DF (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Roosevelt Dr, Oxford OX3 7BN, England.
EM dianne@well.ox.ac.uk
RI Fisher, Simon/E-9130-2012; Bailey, Anthony/J-2860-2014
OI Fisher, Simon/0000-0002-3132-1996; Bailey, Anthony/0000-0003-4257-972X
FU Medical Research Council [G1000569/1, MR/J003719/1]; Max Planck Society;
National Institute of Health Research (UK) Senior Investigator award;
Biomedical Research Centre in Mental Health at the South London &
Maudsley NHS Trust Hospital, London; Wellcome Trust [090532/Z/09/Z,
060774, 076566]
FX We would like to thank all the families, professionals and individuals
who participated in this research. Dianne Newbury is an MRC Career
Development Fellow and a Junior Research Fellow at St John's College,
University of Oxford. The work of the Newbury lab is funded by the
Medical Research Council (G1000569/1 and MR/J003719/1). The genotyping
of samples was funded by the Max Planck Society. The collection of the
SLIC samples was supported by the Wellcome Trust (060774 and 076566). PF
Bolton is supported by a National Institute of Health Research (UK)
Senior Investigator award and the Biomedical Research Centre in Mental
Health at the South London & Maudsley NHS Trust Hospital, London. The
WGS500 Consortium is a joint project of the Wellcome Trust Centre for
Human Genetics, the NIHR Oxford Biomedical Research Centre and Illumina.
The work of the Wellcome Trust Centre in Oxford is supported by the
Wellcome Trust (090532/Z/09/Z).
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NR 54
TC 3
Z9 3
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD OCT
PY 2014
VL 22
IS 10
BP 1165
EP 1171
DI 10.1038/ejhg.2014.4
PG 7
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0LZ
UT WOS:000342476100003
PM 24518835
ER
PT J
AU Myrick, LK
Nakamoto-Kinoshita, M
Lindor, NM
Kirmani, S
Cheng, XD
Warren, ST
AF Myrick, Leila K.
Nakamoto-Kinoshita, Mika
Lindor, Noralane M.
Kirmani, Salman
Cheng, Xiaodong
Warren, Stephen T.
TI Fragile X syndrome due to a missense mutation
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE fragile X syndrome; mutation; missense; FMR1 sequencing
ID MENTAL-RETARDATION PROTEIN; RNA-BINDING; POINT MUTATION; CGG REPEAT; KH
DOMAIN; FMR1; IDENTIFICATION
AB Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus.. In over two decades since the discovery of FMR1, only a single missense mutation (p.(lle304Asn)) has been reported as causing fragile X syndrome. Here we describe a 16-year-old male presenting with fragile X syndrome but without the repeat expansion mutation. Rather, we find a missense mutation, c.797G>A, that replaces glycine 266 with glutamic acid (p.(Gly266Glu)). The Gly266Glu FMR protein abolished many functional properties of the protein. This patient highlights the diagnostic utility of FMR1 sequencing.
C1 [Myrick, Leila K.; Nakamoto-Kinoshita, Mika; Warren, Stephen T.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Lindor, Noralane M.] Mayo Clin, Dept Hlth Sci Res, Scottsdale, AZ USA.
[Kirmani, Salman] Mayo Clin, Dept Med Genet, Scottsdale, AZ USA.
[Cheng, Xiaodong; Warren, Stephen T.] Emory Univ, Dept Biochem, Atlanta, GA 30322 USA.
[Warren, Stephen T.] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA.
RP Warren, ST (reprint author), Emory Univ, Sch Med, Dept Human Genet, 615 Michael St,Suite 301, Atlanta, GA 30322 USA.
EM swarren@emory.edu
FU National Institutes of Health [HD24064, MH087977]
FX This study was supported by grants from the National Institutes of
Health (HD24064 and MH087977 to Dr Warren). We thank the patient and his
family for their cooperation. We thank David Cutler for his helpful
discussion and the Emory Viral Vector Core for lentivirus production.
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NR 25
TC 3
Z9 4
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1018-4813
EI 1476-5438
J9 EUR J HUM GENET
JI Eur. J. Hum. Genet.
PD OCT
PY 2014
VL 22
IS 10
BP 1185
EP 1189
DI 10.1038/ejhg.2013.311
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0LZ
UT WOS:000342476100006
PM 24448548
ER
PT J
AU Klusek, J
Martin, GE
Losh, M
AF Klusek, J.
Martin, G. E.
Losh, M.
TI Consistency between research and clinical diagnoses of autism among boys
and girls with fragile X syndrome
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE ADI-R; ADOS; autism; autism spectrum disorder; comorbidity; fragile X
syndrome
ID SPECTRUM DISORDER; DEVELOPMENTAL DISORDERS; IDIOPATHIC AUTISM; BEHAVIOR
PROFILE; SOCIAL-BEHAVIOR; YOUNG MALES; FMR1 GENE; CHILDREN; INDIVIDUALS;
ADOLESCENTS
AB BackgroundPrior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools.
MethodThis study explored whether boys and girls with FXS met criteria for ASD in a research setting using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R), and then compared these data with the frequency of parent-reported clinical diagnoses. We also examined child and family characteristics as potential diagnostic predictors across settings. Participants included 35 females and 51 males with FXS (mean age: 10 years), who were from Eastern and Midwestern regions of the USA.
ResultsAbout half of the children met criteria for ASD on either the ADOS or ADI-R, with ASD occurring three times more frequently in males than females (approximate to 75% vs. approximate to 25%). In contrast, approximate to 25% of participants of both genders had received a clinical diagnosis of ASD. While cognitive and language skills predicted diagnostic outcome on the ADOS and ADI-R, these skills did not predict clinical diagnoses. Executive functions predicted clinical diagnoses, but not diagnoses per the ADOS or ADI-R.
ConclusionsASD in FXS may be under-diagnosed in clinical/educational settings, which raises questions regarding access to ASD-related services.
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RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL 60201 USA.
EM m-losh@northwestern.edu
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NR 45
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD OCT
PY 2014
VL 58
IS 10
BP 940
EP 952
DI 10.1111/jir.12121
PG 13
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AP5YA
UT WOS:000342153400038
PM 24528851
ER
PT J
AU Zwaigenbaum, L
Young, GS
Stone, WL
Dobkins, K
Ozonoff, S
Brian, J
Bryson, SE
Carver, LJ
Hutman, T
Iverson, JM
Landa, RJ
Messinger, D
AF Zwaigenbaum, Lonnie
Young, Gregory S.
Stone, Wendy L.
Dobkins, Karen
Ozonoff, Sally
Brian, Jessica
Bryson, Susan E.
Carver, Leslie J.
Hutman, Ted
Iverson, Jana M.
Landa, Rebecca J.
Messinger, Daniel
TI Early Head Growth in Infants at Risk of Autism: A Baby Siblings Research
Consortium Study
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; head circumference; high-risk design;
longitudinal study; early detection
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; BRAIN OVERGROWTH;
PSYCHIATRIC-DISORDERS; CIRCUMFERENCE GROWTH; CHILDREN; LIFE; AGE;
REGRESSION; VOLUME
AB Objective: Although early brain overgrowth is frequently reported in autism spectrum disorder (ASD), the relationship between ASD and head circumference (HC) is less clear, with inconsistent findings from longitudinal studies that include community controls. Our aim was to examine whether head growth in the first 3 years differed between children with ASD from a high-risk (HR) sample of infant siblings of children with ASD (by definition, multiplex), HR siblings not diagnosed with ASD, and low-risk (LR) controls. Method: Participants included 442 HR and 253 LR infants from 12 sites of the international Baby Siblings Research Consortium. Longitudinal HC data were obtained prospectively, supplemented by growth records. Random effects nonlinear growth models were used to compare HC in HR infants and LR infants. Additional comparisons were conducted with the HR group stratified by diagnostic status at age 3: ASD (n = 77), developmental delay (DD; n = 32), and typical development (TD; n = 333). Nonlinear growth models were also developed for height to assess general overgrowth associated with ASD. Results: There was no overall difference in head circumference growth over the first 3 years between HR and LR infants, although secondary analyses suggested possible increased total growth in HR infants, reflected by the model asymptote. Analyses stratifying the HR group by 3-year outcomes did not detect differences in head growth or height between HR infants who developed ASD and those who did not, nor between infants with ASD and LR controls. Conclusion: Head growth was uninformative as an ASD risk marker within this HR cohort.
C1 [Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB, Canada.
[Young, Gregory S.; Ozonoff, Sally] Univ Calif Davis, Davis, CA 95616 USA.
[Stone, Wendy L.] Univ Washington, Seattle, WA 98195 USA.
[Dobkins, Karen; Carver, Leslie J.] Univ Calif San Diego, San Diego, CA 92103 USA.
[Brian, Jessica] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Bryson, Susan E.] Dalhousie Univ, Halifax, NS, Canada.
[Hutman, Ted] Univ Calif Los Angeles, Los Angeles, CA USA.
[Iverson, Jana M.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
[Landa, Rebecca J.] Kennedy Krieger Inst, Baltimore, MD USA.
[Landa, Rebecca J.] Johns Hopkins Sch Med, Baltimore, MD USA.
[Messinger, Daniel] Univ Miami, Coral Gables, FL 33124 USA.
RP Zwaigenbaum, L (reprint author), Glenrose Rehabil Hosp GE209, 10230 111th Ave NW, Edmonton, AB T5G 0B7, Canada.
EM lonniez@ualberta.ca
FU Autism Speaks; National Institutes of Health [NIH: HD54979, MH059630,
HD052804, HD043292, HD047417, HD0057284, MH068398, HD055784, MH096961]
FX Autism Speaks provided funding to establish the Baby Siblings Research
Consortium (BSRC) database, used for the study analyses.Data collection
at contributing sites was supported by giants from the National
Institutes of Health (NIH: HD54979, J.I.; MH059630, R.L.; HD052804,
K.D., L.C.; HD043292, W.S.; HD047417, D.M.; HD0057284, D.M, W S;
MH068398, S.O.; HD055784 and MH096961, T H.), the Canadian Institutes of
Health Research (62024 and 102665, S.E.B., J.B., L.Z.) Autism Speaks
(J.I., W.S.), Autism, Speaks Canada (S.E.B., J.B., L.Z.), and
NeuroDevNet (S.E.B., J.B., L Z.)
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NR 56
TC 2
Z9 2
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 OCT
PY 2014
VL 53
IS 10
BP 1053
EP 1062
DI 10.1016/j.jaac.2014.07.007
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100006
PM 25245349
ER
PT J
AU Campbell, DJ
Chang, J
Chawarska, K
AF Campbell, Daniel J.
Chang, Joseph
Chawarska, Katarzyna
TI Early Generalized Overgrowth in Autism Spectrum Disorder: Prevalence
Rates, Gender Effects, and Clinical Outcomes
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; infancy; head circumference; overgrowth; gender
ID EARLY BRAIN OVERGROWTH; AGE 2 YEARS; HEAD CIRCUMFERENCE; ACCELERATED
HEAD; BODY GROWTH; 1ST YEAR; CHILDREN; INFANTS; LIFE; ENLARGEMENT
AB Objective: Although early head and body overgrowth have been well documented in autism spectrum disorder (ASD), their prevalence and significance remain unclear. It is also unclear whether overgrowth affects males and females differentially, and whether it is associated with clinical outcomes later in life. Method: To evaluate prevalence of somatic overgrowth, gender effects, and associations with clinical outcomes, head circumference, height, and weight measurements were collected retrospectively between birth and 2 years of age in toddlers with ASP (n = 200) and typically developing (TD; n = 147) community controls. Symptom severity, verbal, and nonverbal functioning were assessed at 4 years. Results: Abnormalities in somatic growth in infants with ASD were consistent with early generalized overgrowth (EGO). Boys but not girls with ASD were larger and exhibited an increased rate of extreme EGO compared to community controls (18.0% versus 3.4%). Presence of a larger body at birth and postnatal overgrowth were associated independently with poorer social, verbal, and nonverbal skills at 4 years. Conclusion: Although early growth abnormalities in ASD are less common than previously thought, their presence is predictive of lower social, verbal, and nonverbal skills at 4 years, suggesting that they may constitute a biomarker for identifying toddlers with ASD at risk for less-optimal outcomes. The results highlight that the search for mechanisms underlying atypical brain development in ASD should consider factors responsible for both neural and nonneural tissue development during prenatal and early postnatal periods, and can be informed by the finding that early overgrowth may be more readily observed in males than in females with ASP.
C1 [Campbell, Daniel J.] Amgen Inc, Thousand Oaks, CA 91320 USA.
[Chawarska, Katarzyna] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06510 USA.
[Chang, Joseph] Yale Univ, New Haven, CT 06510 USA.
RP Chawarska, K (reprint author), Yale Univ, Sch Med, 40 Temple St,Suite 7D, New Haven, CT 06510 USA.
FU Studies to Advance Autism Research and Treatment, National Institute of
Mental Health [U54 MH66494]; National Institute of Deafness and Other
Communication Disorders from the Autism Center of Excellence, National
Institute of Child Health and Human Development [P50 MH081756]; Autism
Speaks Foundation [1694, 1296, 7614]
FX This study was supported by grant U54 MH66494, Project 3 (P.I.. K.C )
from the Studies to Advance Autism Research and Treatment, National
Institute of Mental Health and National Institute of Deafness and Other
Communication Disorders, grant P50 MH081756, Project 2 (P.I. K.C ) from
the Autism Center of Excellence, National Institute of Child Health and
Human Development; and grants 1694, 1296, and 7614 from Autism Speaks
Foundation (P.I.. K.C.).
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NR 63
TC 4
Z9 4
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 OCT
PY 2014
VL 53
IS 10
BP 1063
EP 1073
DI 10.1016/j.jaac.2014.07.008
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100007
PM 25245350
ER
PT J
AU Cheslack-Postava, K
Suominen, A
Jokiranta, E
Lehti, V
McKeague, IW
Sourander, A
Brown, AS
AF Cheslack-Postava, Keely
Suominen, Auli
Jokiranta, Elina
Lehti, Venla
McKeague, Ian W.
Sourander, Andre
Brown, Alan S.
TI Increased Risk of Autism Spectrum Disorders at Short and Long
Interpregnancy Intervals in Finland
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorders; autism; interpregnancy interval; interbirth
interval; birth spacing
ID CHILDHOOD AUTISM; ANTIDEPRESSANT USE; BIRTH COHORT; PREGNANCY;
ASSOCIATION; CHILDREN; SCHIZOPHRENIA; METAANALYSIS; BEHAVIORS; EXPOSURE
AB Objective: Both short and long interpregnancy intervals (IPI) are believed to present possible adverse conditions for fetal development. Short IPI has recently been associated with increased risk of autism, but whether long IPI increases risk for autism spectrum disorders (ASD) has not been thoroughly investigated. We investigated the association between short and long IPI in a Finnish population based study. Method: This study was conducted in the Finnish Prenatal Study of Autism, which is based in a national birth cohort. Children born in Finland in 1987 to 2005 and diagnosed with ASD by 2007 were identified through the Finnish Hospital Discharge Register. A total of 2,208 non-firstborn patients with ASD and 5,163 matched controls identified from the Finnish Medical Birth Register were included in the primary analysis. The association between IPI and ASD was determined using conditional logistic regression and adjusted for potential confounders. Results: Relative to births with an IPI of 24 to 59 months, those with the shortest IPI (<12 months) had an increased risk of ASD (odds ratio [OR] = 1.50, 95% CI = 1.28, 1.74) in confounder-adjusted models, whereas the ORs for longer IPI births (60-119 months and >= 120 months) were 1.28 (95% CI = 1.08, 1.52) and 1.44 (95% CI = 1.12, 1.85), respectively. Conclusion: This study provides evidence that risk of ASD is increased at long as well as short IPI.
C1 [Cheslack-Postava, Keely; McKeague, Ian W.; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, New York, NY USA.
[Suominen, Auli; Jokiranta, Elina; Lehti, Venla] Univ Turku, Turku, Finland.
[Sourander, Andre] Turku Univ Hosp, Turku, Finland.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, New York, NY 10032 USA.
RP Cheslack-Postava, K (reprint author), 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]; Turku University 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 Turku University Foundation (E.J.), and the Finnish
Epilepsy Society (E.J.).
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NR 37
TC 2
Z9 2
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 OCT
PY 2014
VL 53
IS 10
BP 1074
EP 1081
DI 10.1016/j.jaac.2014.06.009
PG 8
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AP9MO
UT WOS:000342404100008
PM 25245351
ER
PT J
AU Thomas, KC
Parish, SL
Williams, CS
AF Thomas, Kathleen C.
Parish, Susan L.
Williams, Christianna S.
TI Healthcare Expenditures for Autism During Times of School Transition:
Some Vulnerable Families Fall Behind
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Autism; Medical expenditures; School transition; Disparities
ID MEDICAL-CARE; LIFE-COURSE; SPECTRUM DISORDERS; FINANCIAL BURDEN;
CHILDRENS-HEALTH; BEHAVIORAL-MODEL; NATIONAL-SURVEY; SERVICE USE;
ACCESS; ADOLESCENTS
AB This study explores the association between school transition age and healthcare expenditures for children with autism. The paper explores three questions: (1) What is the composition of services overall and paid out-of-pocket and does it differ at transition? (2) Do transition age children have higher total and out-of-pocket health care expenditures than other children with autism? (3) Does the effect of transition differ for vulnerable families who often experience problems accessing care? Pooled data from the Medical Expenditure Panel Survey 2000-2009 on children under 21 years of age with autism (n = 337) were used to describe expenditures for services by source of payment and estimate two-part models of total and out-of-pocket expenditures as a function of child transition age (5, 6, 11, 14) and other child and family characteristics. Median total annual expenditures for health care among children with autism are $2,400; median out-of-pocket expenditures are $390. The majority of total expenditures are devoted to outpatient medical services; nearly half of family out-of-pocket spending is devoted to prescription medications. When children are transition age, a larger proportion of both overall and out-of-pocket expenditures go toward ambulatory therapy, while a smaller proportion of out-of-pocket expenditures are devoted to prescription medications compared to children of other ages. Transition age children from vulnerable families experience a drop in expenditures that families with more resources fill through out-of-pocket spending. Findings raise questions about the dimensions of care for children with autism. Schools may be better positioned than health insurance to foster continuity of care.
C1 [Thomas, Kathleen C.; Williams, Christianna S.] Univ N Carolina, Chapel Hill, NC 27515 USA.
[Parish, Susan L.] Brandeis Univ, Waltham, MA USA.
RP Thomas, KC (reprint author), Univ N Carolina, Chapel Hill, NC 27515 USA.
EM thomas@schsr.unc.edu
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Worthman C., 1999, HORMONES HLTH BEHAV, P47
NR 46
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
EI 1573-6628
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD OCT
PY 2014
VL 18
IS 8
BP 1936
EP 1944
DI 10.1007/s10995-014-1439-6
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP6HW
UT WOS:000342179300018
PM 24553795
ER
PT J
AU Phillips, KL
Schieve, LA
Visser, S
Boulet, S
Sharma, AJ
Kogan, MD
Boyle, CA
Yeargin-Allsopp, M
AF Phillips, Keydra L.
Schieve, Laura A.
Visser, Susanna
Boulet, Sheree
Sharma, Andrea J.
Kogan, Michael D.
Boyle, Coleen A.
Yeargin-Allsopp, Marshalyn
TI Prevalence and Impact of Unhealthy Weight in a National Sample of US
Adolescents with Autism and Other Learning and Behavioral Disabilities
SO MATERNAL AND CHILD HEALTH JOURNAL
LA English
DT Article
DE Obesity; Overweight; Underweight; Developmental disability; Children;
Concurrent medical conditions; Autism
ID CHRONIC HEALTH CONDITIONS; BODY-MASS INDEX; CHILDHOOD OVERWEIGHT;
DEVELOPMENTAL-DISABILITIES; UNITED-STATES; CHILDREN; OBESITY; RISK;
ASTHMA; ADULTS
AB We estimated the prevalence of obesity, overweight, and underweight among US adolescents with and without autism and other learning and behavioral developmental disabilities (DDs) and assessed the health consequences of obesity among adolescents with DDs. From the 2008 to 2010 National Health Interview Survey, we selected 9,619 adolescents ages 12-17 years. Parent respondents reported weight, height, presence of DDs and health conditions. We calculated body mass index (BMI) and defined obesity, overweight, and underweight as a parts per thousand yen95th, a parts per thousand yen85th to < 95th, and < 5th percentiles, respectively, using established criteria. We created mutually-exclusive DD subgroups using the following order of precedence: autism; intellectual disability; attention-deficit-hyperactivity-disorder; learning disorder/other developmental delay. We compared BMI outcomes among adolescents in each DD group versus adolescents without DDs using multivariable logistic regression. Socio-demographic factors and birthweight were included as confounders. Estimates were weighted to reflect the US population. Both obesity and underweight prevalences were higher among adolescents with than without DDs [adjusted prevalence ratios (aPR) 1.5 (1.25-1.75) and 1.5 (1.01-2.20), respectively]. Obesity was elevated among adolescents with all DD types, and was highest among the autism subgroup [aPR 2.1 (1.44-3.16)]. Adolescents with either a DD or obesity had higher prevalences of common respiratory, gastrointestinal, dermatological and neurological conditions/symptoms than nonobese adolescents without DDs. Adolescents with both DDs and obesity had the highest estimates for most conditions. Obesity is high among adolescents with autism and other DDs and poses added chronic health risks. Obesity prevention and management approaches for this vulnerable population subgroup need further consideration.
C1 [Phillips, Keydra L.; Schieve, Laura A.; Visser, Susanna; Boulet, Sheree; Boyle, Coleen A.; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30333 USA.
[Sharma, Andrea J.] Ctr Dis Control & Prevent, Natl Ctr Chron Dis Prevent & Hlth Promot, Atlanta, GA 30333 USA.
[Kogan, Michael D.] Hlth Resources & Serv Adm, Maternal & Child Hlth Bur, Rockville, MD USA.
RP Schieve, LA (reprint author), Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, 1600 Clifton Rd,Mailstop E-86, Atlanta, GA 30333 USA.
EM lschieve@cdc.gov
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NR 45
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1092-7875
EI 1573-6628
J9 MATERN CHILD HLTH J
JI Matern. Child Health J.
PD OCT
PY 2014
VL 18
IS 8
BP 1964
EP 1975
DI 10.1007/s10995-014-1442-y
PG 12
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AP6HW
UT WOS:000342179300021
PM 24553796
ER
PT J
AU Coe, BP
Witherspoon, K
Rosenfeld, JA
van Bon, BWM
Vulto-van Silfhout, AT
Bosco, P
Friend, KL
Baker, C
Buono, S
Vissers, LELM
Schuurs-Hoeijmakers, JH
Hoischen, A
Pfundt, R
Krumm, N
Carvill, GL
Li, D
Amaral, D
Brown, N
Lockhart, PJ
Scheffer, IE
Alberti, A
Shaw, M
Pettinato, R
Tervo, R
de Leeuw, N
Reijnders, MRF
Torchia, BS
Peeters, H
O'Roak, BJ
Fichera, M
Hehir-Kwa, JY
Shendure, J
Mefford, HC
Haan, E
Gecz, J
de Vries, BBA
Romano, C
Eichler, EE
AF Coe, Bradley P.
Witherspoon, Kali
Rosenfeld, Jill A.
van Bon, Bregje W. M.
Vulto-van Silfhout, Anneke T.
Bosco, Paolo
Friend, Kathryn L.
Baker, Carl
Buono, Serafino
Vissers, Lisenka E. L. M.
Schuurs-Hoeijmakers, Janneke H.
Hoischen, Alex
Pfundt, Rolph
Krumm, Nik
Carvill, Gemma L.
Li, Deana
Amaral, David
Brown, Natasha
Lockhart, Paul J.
Scheffer, Ingrid E.
Alberti, Antonino
Shaw, Marie
Pettinato, Rosa
Tervo, Raymond
de Leeuw, Nicole
Reijnders, Margot R. F.
Torchia, Beth S.
Peeters, Hilde
O'Roak, Brian J.
Fichera, Marco
Hehir-Kwa, Jayne Y.
Shendure, Jay
Mefford, Heather C.
Haan, Eric
Gecz, Jozef
de Vries, Bert B. A.
Romano, Corrado
Eichler, Evan E.
TI Refining analyses of copy number variation identifies specific genes
associated with developmental delay
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDER; SCHINZEL-GIEDION SYNDROME;
INTELLECTUAL DISABILITY; MICRODELETION SYNDROME; MENTAL-RETARDATION;
MOLECULAR CHARACTERIZATION; SEGMENTAL DUPLICATIONS;
CLINICAL-SIGNIFICANCE; DELETIONS
AB Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.
C1 [Coe, Bradley P.; Witherspoon, Kali; Baker, Carl; Krumm, Nik; O'Roak, Brian J.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[Rosenfeld, Jill A.; Torchia, Beth S.] PerkinElmer Inc, Signature Genom Labs LLC, Spokane, WA USA.
[van Bon, Bregje W. M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E. L. M.; Schuurs-Hoeijmakers, Janneke H.; Hoischen, Alex; Pfundt, Rolph; de Leeuw, Nicole; Reijnders, Margot R. F.; Hehir-Kwa, Jayne Y.; de Vries, Bert B. A.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[van Bon, Bregje W. M.; Friend, Kathryn L.; Shaw, Marie; Haan, Eric; Gecz, Jozef] SA Pathol, Adelaide, SA, Australia.
[Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Pettinato, Rosa; Fichera, Marco; Romano, Corrado] Associaz Oasi Maria Santissima, IRCCS, Troina, Italy.
[Carvill, Gemma L.; Mefford, Heather C.] Univ Washington, Dept Pediat, Seattle, WA 98195 USA.
[Li, Deana; Amaral, David] Univ Calif Davis, MIND Inst, Autism Phenome Project, Sacramento, CA 95616 USA.
[Brown, Natasha; Lockhart, Paul J.] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia.
[Brown, Natasha] Barwon Hlth, Barwon Child Hlth Unit, Geelong, Vic, Australia.
[Lockhart, Paul J.] Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Scheffer, Ingrid E.] Univ Melbourne, Austin Hlth, Florey Inst, Melbourne, Vic, Australia.
[Scheffer, Ingrid E.] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Tervo, Raymond] Mayo Clin, Div Dev & Behav Pediat, Rochester, MN USA.
[Peeters, Hilde] Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.
[Peeters, Hilde] Leuven Autism Res LAuRes, Leuven, Belgium.
[Haan, Eric] Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.
[Gecz, Jozef] Univ Adelaide, Robinson Inst, Adelaide, SA, Australia.
[Eichler, Evan E.] Howard Hughes Med Inst, Seattle, WA USA.
RP Eichler, EE (reprint author), Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
EM eee@gs.washington.edu
RI Lockhart, Paul/E-7753-2011; Romano, Corrado/B-9695-2008; Vissers,
Lisenka/A-2598-2015; Scheffer, Ingrid/G-1668-2013
OI Lockhart, Paul/0000-0003-2531-8413; Romano, Corrado/0000-0003-1049-0683;
Scheffer, Ingrid/0000-0002-2311-2174
FU Canadian Institutes of Health Research; US National Institute of Mental
Health [MH101221]; Paul G. Allen Family Foundation Award [11631]
FX We thank E Hormozdiari, M. Dennis and T. Brown for useful discussions
and for editing the manuscript. B.P.C. is supported by a fellowship from
the Canadian Institutes of Health Research. 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 http://www.wtccc.org.uk/. JAR. and B.S.T. are employees
of Signature Genomics Laboratories, LLC, a subsidiary of PerkinElmer,
Inc. This work was supported by US National Institute of Mental Health
grant MH101221 and Paul G. Allen Family Foundation Award 11631 to E.E.E.
E.E.E. is an Allen Distinguished Investigator and an investigator of the
Howard Hughes Medical Institute.
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NR 56
TC 7
Z9 8
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD OCT
PY 2014
VL 46
IS 10
BP 1063
EP 1071
DI 10.1038/ng.3092
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ1PU
UT WOS:000342554100008
PM 25217958
ER
PT J
AU Vanderwerker, L
Akincigil, A
Olfson, M
Gerhard, T
Neese-Todd, S
Crystal, S
AF Vanderwerker, Lauren
Akincigil, Ayse
Olfson, Mark
Gerhard, Tobias
Neese-Todd, Sheree
Crystal, Stephen
TI Foster Care, Externalizing Disorders, and Antipsychotic Use Among
Medicaid-Enrolled Youths
SO PSYCHIATRIC SERVICES
LA English
DT Article
ID MENTAL-HEALTH-SERVICES; CHILD-WELFARE; MEDICATIONS
AB Objectives: The authors investigated the extent to which clinical diagnoses of externalizing disorders explain higher rates of antipsychotic use by foster care youths. Methods: Medicaid claims data from 44 states for 2009 for youths in foster care (N=301,894) and those not in foster care (N=5,092,574) were analyzed, excluding those with schizophrenia, bipolar disorder, autism, and major depressive disorder. Logistic regressions assessed the relationship between foster care, externalizing disorders, and antipsychotic use. Results: Foster care youths had higher rates of externalizing disorders than the comparison group (attention-deficit hyperactivity disorder, 17.3% versus 6.5%; disruptive behavior disorder, 7.2% versus 2.5%; conduct disorder, 2.3% versus .5%) and greater antipsychotic use (7.4% versus 1.4%). Foster care remained a significant predictor of antipsychotic use after control for demographic and diagnostic covariates, including externalizing disorders (adjusted odds ratio=2.59, 95% confidence interval=2.54-2.63). Conclusions: High rates of externalizing disorder diagnoses only partially explained elevated levels of antipsychotic use in this vulnerable population.
C1 [Vanderwerker, Lauren] Rutgers State Univ, Ctr Hlth Serv Res Pharmacotherapy Chron Dis Manag, Inst Hlth Hlth Care Policy & Aging Res, New Brunswick, NJ 08903 USA.
[Akincigil, Ayse; Gerhard, Tobias; Neese-Todd, Sheree; Crystal, Stephen] Rutgers State Univ, New Brunswick, NJ 08903 USA.
[Akincigil, Ayse; Crystal, Stephen] Rutgers State Univ, Sch Social Work, New Brunswick, NJ 08903 USA.
[Gerhard, Tobias] Rutgers State Univ, Ernest Mario Sch Pharm, New Brunswick, NJ 08903 USA.
[Olfson, Mark] Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, New York, NY USA.
[Olfson, Mark] Columbia Univ, Coll Phys & Surg, Dept Psychiat, New York, NY USA.
RP Vanderwerker, L (reprint author), Univ Maryland Baltimore Cty, Hilltop Inst, Baltimore, MD 21228 USA.
EM lvanclerwerker@hilltop.umbc.edu
FU Agency for Healthcare Research and Quality [U19-HS-021112, HS017918,
R18HS019937]; Mental Health Services and Systems Training Program grant
from the National Institute of Mental Health [MH-16242]; New York State
Psychiatric Institute
FX This study was supported by awards U19-HS-021112, HS017918 and
R18HS019937 from the Agency for Healthcare Research and Quality, by
Mental Health Services and Systems Training Program grant MH-16242 from
the National Institute of Mental Health, and by the New York State
Psychiatric Institute.
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NR 15
TC 0
Z9 0
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 OCT
PY 2014
VL 65
IS 10
BP 1281
EP 1284
DI 10.1176/appi.ps.201300455
PG 4
WC Health Policy & Services; Public, Environmental & Occupational Health;
Psychiatry
SC Health Care Sciences & Services; Public, Environmental & Occupational
Health; Psychiatry
GA AQ0MK
UT WOS:000342477200019
PM 25124057
ER
PT J
AU Frith, U
AF Frith, Uta
TI Autism - are we any closer to explaining the enigma?
SO PSYCHOLOGIST
LA English
DT Article
AB Autism is a developmental disorder characterised by impairments in social interaction and both verbal and non-verbal communication, along with restricted, repetitive or stereotyped behaviour. Following more than a quarter of a century of extensive research from psychologists, are we any closer to explaining the enigma? Has stretching The diagnostic boundaries helped or hindered scientific and practical progress?
A critical step in 'solving the puzzle' of autism is to consider the myths and realities surrounding autism, both for those living with it and their relatives. This issue gathers a variety of perspectives from those people and from leading researchers in the field.
C1 UCL, London WC1E 6BT, England.
RP Frith, U (reprint author), UCL, London WC1E 6BT, England.
EM u.frith@ucl.ac.uk
NR 0
TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD OCT
PY 2014
VL 27
IS 10
BP 744
EP 745
PG 2
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700036
ER
PT J
AU Jarrett, C
AF Jarrett, Christian
TI Autism - myth and reality
SO PSYCHOLOGIST
LA English
DT Article
ID DISORDER
EM christianjarrett@gmail.com
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TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD OCT
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BP 746
EP 749
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
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AF Brock, Jon
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LA English
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ID AUTISM SPECTRUM DISORDERS; SCHIZOPHRENIA; PELLICANO; PRIORS; BURR
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NR 20
TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD OCT
PY 2014
VL 27
IS 10
BP 750
EP 753
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700038
ER
PT J
AU Elsabbagh, M
AF Elsabbagh, Mayada
TI Risk and resilience in the developing brain
SO PSYCHOLOGIST
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; INFANTS AT-RISK; PHENOTYPE; CHILDREN;
DIFFICULTIES; SIBLINGS; GAZE
C1 McGill Univ, Montreal, PQ H3A 2T5, Canada.
RP Elsabbagh, M (reprint author), McGill Univ, Montreal, PQ H3A 2T5, Canada.
EM mayada.elsabbagh@mcgill.ca
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NR 26
TC 0
Z9 0
PU BRITISH PSYCHOLOGICAL SOC
PI LEICESTER
PA ST ANDREWS HOUSE, 48 PRINCESS RD EAST, LEICESTER LE1 7DR, LEICS, ENGLAND
SN 0952-8229
J9 PSYCHOLOGIST
JI Psychologist
PD OCT
PY 2014
VL 27
IS 10
BP 754
EP 757
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA AP8OG
UT WOS:000342337700039
ER
PT J
AU Guida, N
Laudati, G
Galgani, M
Santopaolo, M
Montuori, P
Triassi, M
Di Renzo, G
Canzoniero, LMT
Formisano, L
AF Guida, Natascia
Laudati, Giusy
Galgani, Mario
Santopaolo, Marianna
Montuori, Paolo
Triassi, Maria
Di Renzo, Gianfranco
Canzoniero, Lorella M. T.
Formisano, Luigi
TI Histone deacetylase 4 promotes ubiquitin-dependent proteasomal
degradation of Sp3 in SH-SY5Y cells treated with di(2-ethylhexyl)
phthalate (DEHP), determining neuronal death
SO TOXICOLOGY AND APPLIED PHARMACOLOGY
LA English
DT Article
DE DEHP; HDAC4; MC-1568; Ubiquitination; Acetylation
ID BLOOD-BRAIN-BARRIER; AUTISM SPECTRUM DISORDERS; TRANSCRIPTION FACTORS;
(DEHP)-INDUCED APOPTOSIS; NEUROBLASTOMA-CELLS; CEREBRAL-ISCHEMIA;
NEURO-2A CELLS; SP-FAMILY; EXPRESSION; ACTIVATION
AB Phthalates, phthalic acid esters, are widely used as plasticizers to produce polymeric materials in industrial production of plastics and daily consumable products. Animal studies have shown that di(2-ethylhexyl)phthalate (DEHP) may cause toxic effects in the rat brain. In the present study, chronic exposure to DEHP (0.1-100 mu M) caused dose-dependent cell death via the activation of caspase-3 in neuroblastoma cells. Intriguingly, this harmful effect was prevented by the pan-histone deacetylase (HDAC) inhibitor trichostatin A, by the class II HDAC inhibitor MC-1568, but not by the class I HDAC inhibitor MS-275. Furthermore, DEHP reduced specificity protein 3 (Sp3) gene expression, but not Sp3 mRNA, after 24 and 48 h exposures. However, Sp3 protein reduction was prevented by pre-treatment with MC-1568, suggesting the involvement of class II HDACs in causing this effect. Then, we investigated the possible relationship between DEHP-induced neuronal death and the post-translational mechanisms responsible for the down-regulation of Sp3. Interestingly, DEHP-induced Sp3 reduction was associated to its deacetylation and polyubiquitination. Co-immunoprecipitation studies showed that Sp3 physically interacted with HDAC4 after DEHP exposure, while HDAC4 inhibition by antisense oligodeoxynucleotide reverted the DEHP-induced degradation of Sp3. Notably, Sp3 overexpression was able to counteract the detrimental effect induced by DEHP. Taken together, these results suggest that DEHP exerts its toxic effect by inducing deacetylation of Sp3 via HDAC4, and afterwards, Sp3-polyubiquitination. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Guida, Natascia; Laudati, Giusy; Di Renzo, Gianfranco; Canzoniero, Lorella M. T.; Formisano, Luigi] Univ Naples Federico II, Div Pharmacol, Dept Neurosci Reprod & Odontostomatol Sci, Sch Med, I-80131 Naples, Italy.
[Galgani, Mario; Santopaolo, Marianna] CNR, Ist Endocrinol & Oncol Sperimentale, Immunol Lab, I-80125 Naples, Italy.
[Montuori, Paolo; Triassi, Maria] Univ Naples Federico II, Dept Prevent Med Sci, I-80131 Naples, Italy.
[Canzoniero, Lorella M. T.; Formisano, Luigi] Univ Sannio, Div Pharmacol, Dept Sci & Technol, I-82100 Benevento, Italy.
RP Canzoniero, LMT (reprint author), Univ Sannio, Div Pharmacol, Dept Sci & Technol, Via PortArsa 11, I-82100 Benevento, Italy.
EM canzon@unisannio.it; cformisa@unisannio.it
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NR 44
TC 3
Z9 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0041-008X
EI 1096-0333
J9 TOXICOL APPL PHARM
JI Toxicol. Appl. Pharmacol.
PD OCT 1
PY 2014
VL 280
IS 1
BP 190
EP 198
DI 10.1016/j.taap.2014.07.014
PG 9
WC Pharmacology & Pharmacy; Toxicology
SC Pharmacology & Pharmacy; Toxicology
GA AQ1GZ
UT WOS:000342531200021
PM 25068794
ER
PT J
AU Deepmala
Agrawal, M
AF Deepmala
Agrawal, Mayank
TI Use of Propranolol for Hypersexual Behavior in an Adolescent With Autism
SO ANNALS OF PHARMACOTHERAPY
LA English
DT Article
DE propranolol; hypersexual behaviors; adolescent; autism
ID NEUROLEPTIC-INDUCED AKATHISIA; PHARMACOLOGICAL-TREATMENT;
SEXUAL-BEHAVIOR; MIRTAZAPINE; DISORDER; MEDROXYPROGESTERONE;
MASTURBATION; OFFENDERS; DEMENTIA
AB Objective: To report a case of an adolescent with autism with clinically significant hypersexual behaviors in whom a trial of low-dose propranolol led to major clinical improvement. Case Summary: This case report describes a 13-year-old boy with a history of autism who presented to the outpatient psychiatric clinic for hypersexual behaviors that started at the onset of puberty. The behaviors affected his functioning both at school and home. A trial of low-dose propranolol, 0.3 mg/ kg/d (10 mg twice a day), targeting hypersexual behavior led to remarkable clinical improvement. The behaviors remained stable on this dose of propranolol for 1 year. Discussion: Hypersexual behavior exhibited by adolescent patients with autism can be a big challenge to manage. The literature on pharmacological options to manage these behaviors in children and adolescents with autism is limited. Clinical data of propranolol use are novel. Conclusion: To our knowledge, this is the first case report of low-dose propranolol leading to clinically significant improvement in hypersexual behaviors in an adolescent with autism. Propranolol use may expand the choice of treatment option in this patient population.
C1 [Deepmala; Agrawal, Mayank] Univ Arkansas Med Sci, Little Rock, AR 72202 USA.
RP Deepmala (reprint author), Univ Arkansas Med Sci, Child & Adolescent Psychiat Div, Dept Psychiat, 11 Childrens Way Slot 654, Little Rock, AR 72202 USA.
EM ddeepmala@uams.edu
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NR 32
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1060-0280
EI 1542-6270
J9 ANN PHARMACOTHER
JI Ann. Pharmacother.
PD OCT
PY 2014
VL 48
IS 10
BP 1385
EP 1388
DI 10.1177/1060028014S41630
PG 4
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AP2ZX
UT WOS:000341945800018
PM 24965689
ER
PT J
AU Xie, J
Du, ZM
Callahan, B
Belfort, M
Wang, CY
AF Xie, Jian
Du, Zhenming
Callahan, Brian
Belfort, Marlene
Wang, Chunyu
TI H-1, C-13, and N-15 NMR assignments of a Drosophila Hedgehog
autoprocessing domain
SO BIOMOLECULAR NMR ASSIGNMENTS
LA English
DT Article
DE Assignments; Autoprocessing; Drosophila; Hedgehog; NMR
ID PROTEIN; MECHANISM; INTEIN
AB The Hedgehog (Hh) signaling pathway plays important roles in embryonic growth and patterning in different organisms. Abnormal activity of the Hh signaling pathway has been associated to cancers, holoprosencephaly and autism spectrum disorders. The backbone and side chain resonance assignments of a Drosophila Hh autoprocessing domain have been determined based on triple-resonance experiments with the [C-13, N-15]-labeled and [H-2, C-13, N-15])-labeled proteins.
C1 [Xie, Jian; Du, Zhenming; Wang, Chunyu] Rensselaer Polytech Inst, Biochem & Biophys Grad Program, Ctr Biotechnol & Interdisciplinary Studies, Troy, NY 12180 USA.
[Callahan, Brian] SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA.
[Belfort, Marlene] SUNY Albany, Dept Biol Sci, Albany, NY 12222 USA.
RP Wang, CY (reprint author), Rensselaer Polytech Inst, Biochem & Biophys Grad Program, Ctr Biotechnol & Interdisciplinary Studies, Troy, NY 12180 USA.
EM wangc5@rpi.edu
FU National Institute of General Medical Sciences [R01GM081408, R01GM44844]
FX The project described was supported by R01GM081408 (to C. W.) and
R01GM44844 (to M. B.) from the National Institute of General Medical
Sciences.
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NR 10
TC 2
Z9 2
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 1874-2718
EI 1874-270X
J9 BIOMOL NMR ASSIGN
JI Biomol. NMR Assign.
PD OCT
PY 2014
VL 8
IS 2
BP 279
EP 281
DI 10.1007/s12104-013-9500-8
PG 3
WC Biophysics; Spectroscopy
SC Biophysics; Spectroscopy
GA AP4WR
UT WOS:000342080900013
PM 23765287
ER
PT J
AU O'Hearn, K
Tanaka, J
Lynn, A
Fedor, J
Minshew, N
Luna, B
AF O'Hearn, Kirsten
Tanaka, James
Lynn, Andrew
Fedor, Jennifer
Minshew, Nancy
Luna, Beatriz
TI Developmental plateau in visual object processing from adolescence to
adulthood in autism
SO BRAIN AND COGNITION
LA English
DT Article
DE ASD; Developmental disorders; Face; Holistic; Recognition; Eyes
ID FUSIFORM FACE AREA; SPECTRUM DISORDERS; RECOGNITION MEMORY; SKILLS
BATTERY; INDIVIDUALS; PERCEPTION; TRAJECTORIES; CHILDREN; CORTEX;
IMPAIRMENT
AB A lack of typical age-related improvement from adolescence to adulthood contributes to face recognition deficits in adults with autism on the Cambridge Face Memory Test (CFMT). The current studies examine if this atypical developmental trajectory generalizes to other tasks and objects, including parts of the face. The CFMT tests recognition of whole faces, often with a substantial delay. The current studies used the immediate memory (IM) task and the parts-whole face task from the Let's Face It! battery, which examines whole faces, face parts, and cars, without a delay between memorization and test trials. In the IM task, participants memorize a face or car. Immediately after the target disappears, participants identify the target from two similar distractors. In the part-whole task, participants memorize a whole face. Immediately after the face disappears, participants identify the target from a distractor with different eyes or mouth, either as a face part or a whole face.
Results indicate that recognition deficits in autism become more robust by adulthood, consistent with previous work, and also become more general, including cars. In the IM task, deficits in autism were specific to faces in childhood, but included cars by adulthood. In the part-whole task, deficits in autism became more robust by adulthood, including both eyes and mouths as parts and in whole faces. Across tasks, the deficit in autism increased between adolescence and adulthood, reflecting a lack of typical improvement, leading to deficits with non-face stimuli and on a task without a memory delay. These results suggest that brain maturation continues to be affected into adulthood in autism, and that the transition from adolescence to adulthood is a vulnerable stage for those with autism. (C) 2014 Published by Elsevier Inc.
C1 [O'Hearn, Kirsten; Lynn, Andrew; Fedor, Jennifer; Minshew, Nancy; Luna, Beatriz] Univ Pittsburgh, Dept Psychiat, Lab Neurocognit Dev, Pittsburgh, PA 15213 USA.
[Tanaka, James] Univ Victoria, Dept Psychol, Victoria, BC V8W 2Y2, Canada.
[Minshew, Nancy] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA.
RP O'Hearn, K (reprint author), Univ Pittsburgh, Med Ctr, Lab Neurocognit Dev, 121 Meyran Ave,112 Loeffler Bldg, Pittsburgh, PA 15213 USA.
EM ohearnk@upmc.edu
FU Autism Speaks Grant [04593]; NIMH [5 R01 MH067924, K01 MH081191]; NIH
from Eunice Kennedy Shriver National Institute of Child Health & Human
Development [HD055748]; NICHD ACE [HD055648]; CPEA [HD35469]
FX This work was completed at the University of Pittsburgh and supported by
Autism Speaks Grant 04593 (PI Luna), NIMH 5 R01 MH067924 (PI Luna), NIH
HD055748 (PI Minshew) from the Eunice Kennedy Shriver National Institute
of Child Health & Human Development, and NIMH K01 MH081191 (PI O'Hearn).
The content is solely the responsibility of the authors and does not
necessarily represent the official views of the National Institutes of
Health. Recruitment was supported by NICHD ACE grant HD055648 and CPEA
grant HD35469. We thank Catherine Wright, the participants and their
families, and the staff at the Autism Center of Excellence for their
generous help. Preliminary analysis was presented at The International
Meeting for Autism Research in Toronto ON in May, 2012.
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NR 66
TC 0
Z9 0
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD OCT
PY 2014
VL 90
BP 124
EP 134
DI 10.1016/j.bandc.2014.06.004
PG 11
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AP6LF
UT WOS:000342188600015
PM 25019999
ER
PT J
AU Dubischar-Krivec, AM
Bolte, S
Braun, C
Poustka, F
Birbaumer, N
Neumann, N
AF Dubischar-Krivec, Anna Milena
Bolte, Sven
Braun, Christoph
Poustka, Fritz
Birbaumer, Niels
Neumann, Nicola
TI Neural mechanisms of savant calendar calculating in autism: An MEG-study
of few single cases
SO BRAIN AND COGNITION
LA English
DT Article
DE Autism; Calendar calculation; Magnetoencephalography; Savant syndrome
ID CALENDRICAL CALCULATORS; IDIOT-SAVANT; WORKING-MEMORY; BRAIN;
MULTIPLICATION; PERCEPTION; ATTENTION; SUBJECT; NUMBERS; TALENT
AB This study contrasted the neurological correlates of calendar calculating (CC) between those individuals with autism spectrum disorder (ASD) and typically developing individuals. CC is the ability to correctly and quickly state the day of the week of a given date. Using magnetoencephalography (MEG), we presented 126 calendar tasks with dates of the present, past, and future. Event-related magnetic fields (ERF) of 3000 ms duration and brain activation patterns were compared in three savant calendar calculators with ASD (ASDCC) and three typically developing calendar calculators (TYPCC). ASDCC outperformed TYPCC in correct responses, but not in answering speed. Comparing amplitudes of their ERFs, there was a main effect of group between 1000 and 3000 ms, but no further effects of hemisphere or sensor location. We conducted CLARA source analysis across the entire CC period in each individual. Both ASDCC and TYPCC exhibited activation maxima in prefrontal areas including the insulae and the left superior temporal gyrus. This is in accordance with verbal fact retrieval and working memory as well as monitoring and coordination processes. In ASDCC, additional activation sites at the right superior occipital gyrus, the right precuneus, and the right putamen point to visual-spatial strategies and are in line with the preference of autistic individuals for engaging posterior regions relatively more strongly in various reasoning and problem solving tasks. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Dubischar-Krivec, Anna Milena; Birbaumer, Niels; Neumann, Nicola] Univ Tubingen, Inst Med Psychol & Behav Neurobiol, D-72076 Tubingen, Germany.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, S-17177 Stockholm, Sweden.
[Braun, Christoph] Univ Tubingen, MEG Ctr, D-72076 Tubingen, Germany.
[Poustka, Fritz] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat & Psychotherapy, D-60528 Frankfurt, Germany.
[Birbaumer, Niels] Osped San Camillo, IRCCS, I-30126 Venice, Italy.
[Neumann, Nicola] Ernst Moritz Arndt Univ Greifswald, Funct Imaging Unit, Ctr Diagnost Radiol & Neuroradiol, D-17475 Greifswald, Germany.
RP Neumann, N (reprint author), Ernst Moritz Arndt Univ Greifswald, Funct Imaging Unit, Ctr Diagnost Radiol & Neuroradiol, Walther Rathenau Str 46, D-17475 Greifswald, Germany.
EM nicola.neumann@uni-greifswald.de
FU Graduate Research Training Program on Cognitive Neurobiology of the
Deutsche Forschungsgemeinschaft at the University of Tubingen;
University and Science Program of the Federal State of
Baden-Wurttemberg; Kathe Kluth Program of the University of Greifswald
FX The authors thank all participants for their participation in this
study. All authors disclose any sources of conflict of interest. This
work was supported by the Graduate Research Training Program on
Cognitive Neurobiology of the Deutsche Forschungsgemeinschaft at the
University of Tubingen, the University and Science Program of the
Federal State of Baden-Wurttemberg, and the Kathe Kluth Program of the
University of Greifswald.
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NR 59
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0278-2626
EI 1090-2147
J9 BRAIN COGNITION
JI Brain Cogn.
PD OCT
PY 2014
VL 90
BP 157
EP 164
DI 10.1016/j.bandc.2014.07.003
PG 8
WC Neurosciences; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AP6LF
UT WOS:000342188600019
PM 25108822
ER
PT J
AU Mito, H
Matsuura, N
Mukai, K
Yanagisawa, Y
Nakajima, A
Motoyama, M
Arikawa, A
Yamanishi, K
Matsunaga, H
AF Mito, Hironori
Matsuura, Naomi
Mukai, Keiitiro
Yanagisawa, Yoshinobu
Nakajima, Akihiro
Motoyama, Mikuni
Arikawa, Ayako
Yamanishi, Kyosuke
Matsunaga, Hisato
TI The impacts of elevated autism spectrum disorder traits on clinical and
psychosocial features and long-term treatment outcome in adult patients
with obsessive-compulsive disorder
SO COMPREHENSIVE PSYCHIATRY
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; REPETITIVE BEHAVIORS;
ANXIETY SYMPTOMS; QUOTIENT AQ; CHILDREN; COMORBIDITY; SCALE;
ADOLESCENTS; DEPRESSION
AB Background: While a close relation between obsessive-compulsive disorder (OCD) and autism spectrum disorder (ASD) has been pointed out, there are few studies that have investigated whether highly elevated ASD traits may have significant impacts on clinical and psychosocial features as well as long-term treatment outcome in adult OCD patients.
Methods: We assessed ASD traits using the Autism Spectrum Quotient (AQ) in 81 Japanese patients with OCD. The relation between degree of ASD traits and clinical and psychosocial variables and the 48-week treatment outcomes was analyzed in the subjects.
Results: A substantial proportion of the subjects showed higher ASD traits (35%) with more severe depressive or pervasive anxiety status, and social impairments and lower QOL compared to other OCD individuals. However, elevated ASD traits may exert rather smaller impact on the OCD phenomenology along with on the long-term treatment outcome than expected.
Conclusions: Elevated ASD traits may further emphasize the general psychopathological and socio-dysfunctional features rather than clinical aspects associated with OCD. Co-existing depressive or anxious symptom severity may further exacerbate the core-deficits related to ASD pathology. Thus the assessment of ASD traits should be important for understanding the clinical and psychosocial features and treatment responses in OCD patients. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Mito, Hironori; Mukai, Keiitiro; Yanagisawa, Yoshinobu; Nakajima, Akihiro; Motoyama, Mikuni; Arikawa, Ayako; Yamanishi, Kyosuke; Matsunaga, Hisato] Hyogo Coll Med, Dept Neuropsychiat, Nishinomiya, Hyogo 6638501, Japan.
[Mito, Hironori] Zinmeikai Hosp, Nishinomiya, Hyogo, Japan.
[Matsuura, Naomi] Tokyo Univ Social Welf, Grad Sch Educ, Toshima, Aichi, Japan.
RP Matsunaga, H (reprint author), Hyogo Coll Med, Dept Neuropsychiat, Mukogawa Cho, Nishinomiya, Hyogo 6638501, Japan.
EM hisa1311@hyo-med.ac.jp
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
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 0010-440X
EI 1532-8384
J9 COMPR PSYCHIAT
JI Compr. Psychiat.
PD OCT
PY 2014
VL 55
IS 7
BP 1526
EP 1533
DI 10.1016/j.comppsych.2014.05.005
PG 8
WC Psychiatry
SC Psychiatry
GA AP5LX
UT WOS:000342121800008
PM 24957957
ER
PT J
AU Youngster, I
Zachor, DA
Gabis, LV
Bar-Chaim, A
Benveniste-Levkovitz, P
Britzi, M
Soback, S
Ziv-Baran, T
Berkovitch, M
AF Youngster, Ilan
Zachor, Ditza A.
Gabis, Lidia V.
Bar-Chaim, Adina
Benveniste-Levkovitz, Patricia
Britzi, Malka
Soback, Stefan
Ziv-Baran, Tomer
Berkovitch, Matitiahu
TI CYP2D6 genotyping in paediatric patients with autism treated with
risperidone: a preliminary cohort study
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID CYTOCHROME-P450 2D6 CYP2D6; BEHAVIORAL SYMPTOMS; SPECTRUM DISORDERS;
CHILDREN; PLASMA; 9-HYDROXYRISPERIDONE; SCHIZOPHRENIA; MEDICATIONS;
ADOLESCENTS
AB AimTo evaluate the association between cytochrome P450 2D6 (CYP2D6) phenotypes in paediatric patients with autistic spectrum disorders (ASD) treated with risperidone, adverse drug reactions (ADRs), and drug efficacy.
MethodAn observational cohort study of 40 children (34 males, six females; median age 7y range 3-18y) with autistic disorder, pervasive developmental disorder not otherwise specified, or Asperger syndrome diagnosed using the Autism Diagnostic Interview-Revised and treated with risperidone for at least 3months. Charts were reviewed for demographic and clinical information, response to treatment was assessed by parents and the treating neurologist on a three-point scale, and information about ADRs was collected. Trough plasma levels of risperidone and its metabolites were determined and CYP2D6 genotyping was performed.
ResultsTwenty-six patients responded to therapy and 11 patients exhibited ADRs. CYP2D6 genotyping showed two patients to be poor metabolizers, two ultra-rapid metabolizers, seven intermediate metabolizers, and 29 extensive metabolizers. Both ultra-rapid metabolizer patients were non-responders and had no ADRs. In contrast, both poor metabolizer patients were responders but experienced ADRs. No correlation was found between risperidone dosage and either risperidone or drug metabolite plasma levels. There was no difference in risperidone or metabolite plasma levels when comparing responders to non-responders, or when comparing patients with or without ADRs.
InterpretationIn patients with ASD treated with risperidone, a CYP2D6 phenotype may be associated with response to treatment and development of ADRs.
C1 [Youngster, Ilan; Berkovitch, Matitiahu] Assaf Harofeh Med Ctr, Clin Pharmacol Unit, IL-70300 Zerifin, Israel.
[Zachor, Ditza A.] Assaf Harofeh Med Ctr, Autism Ctr, IL-70300 Zerifin, Israel.
[Gabis, Lidia V.] Safra Childrens Hosp, Child Dev Ctr, Tel Hashomer, Israel.
[Bar-Chaim, Adina; Benveniste-Levkovitz, Patricia] Assaf Harofeh Med Ctr, Pharmacogenet Lab, IL-70300 Zerifin, Israel.
[Britzi, Malka; Soback, Stefan] Hebrew Univ Jerusalem, Minist Agr, Natl Residue Control Lab, Jerusalem, Israel.
[Ziv-Baran, Tomer] Tel Aviv Univ, Sackler Fac Med, Sch Publ Hlth, Dept Epidemiol & Prevent Med, IL-69978 Tel Aviv, Israel.
RP Youngster, I (reprint author), Assaf Harofeh Med Ctr, Clin Pharmacol Unit, IL-70300 Zerifin, Israel.
EM ilan.youngster@yahoo.com
RI Youngster, Ilan/J-5047-2014
OI Youngster, Ilan/0000-0001-5233-1213
FU Israeli Society for Clinical Pediatrics (CHIPAK)
FX This study was supported by a grant from the Israeli Society for
Clinical Pediatrics (CHIPAK). The authors have stated that they had no
interests that could be perceived as posing a bias or conflict.
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NR 26
TC 2
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 OCT
PY 2014
VL 56
IS 10
BP 990
EP 994
DI 10.1111/dmcn.12470
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100018
PM 24828442
ER
PT J
AU Mahone, EM
Ryan, M
Ferenc, L
Morris-Berry, C
Singer, HS
AF Mahone, E. Mark
Ryan, Matthew
Ferenc, Lisa
Morris-Berry, Christina
Singer, Harvey S.
TI Neuropsychological function in children with primary complex motor
stereotypies
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID LONGITUDINAL FOLLOW-UP; DEVELOPMENTAL DISORDERS; REPETITIVE BEHAVIOR;
CLINICAL-FEATURES; QUESTIONNAIRE; AUTISM; RELIABILITY; MOVEMENTS;
VALIDITY
AB AimComplex motor stereotypies (CMS) are patterned, repetitive, rhythmic, and involuntary movements that persist over time. They are divided into two subgroups dependent on the presence of other developmental problems: primary' (development is otherwise typical) or secondary' (associated with autism, intellectual disability, or sensory deficits). There are no currently published studies that examine neuropsychological function in children with primary CMS. This case-control study examines whether children with primary CMS manifest neurobehavioral deficits.
MethodFifty-seven children with primary CMS (32 males, 25 females; mean age 6y 8mo, SD 2y 4mo, range 4-12y) with negative screens for autism and 57 comparison participants (32 males, 25 females; mean age 6y 6mo, SD 2y 1mo) completed neuropsychological assessments of IQ, reading ability, attention, language, and motor and executive functions. Parents completed ratings of their child's repetitive movement severity.
ResultsThe CMS group performed significantly less well than comparison participants on motor skills and IQ tests (both p<0.01), although IQ was consistently in the average range. One-third of the CMS group showed signs of developmental motor coordination difficulties. Parent report of stereotypy severity was significantly associated with parent report of inattention and executive dysfunction.
InterpretationChildren with primary CMS were found to have largely intact neuropsychological profiles. Stereotypy severity appears to be associated with executive dysfunction. Although motor difficulties were observed in children with CMS, these were not correlated with parent report of symptom severity.
C1 [Mahone, E. Mark; Ryan, Matthew; Ferenc, Lisa] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21231 USA.
[Morris-Berry, Christina; Singer, Harvey S.] Johns Hopkins Univ, Sch Med, Pediat Neurol Ctr, Baltimore, MD USA.
RP Mahone, EM (reprint author), Kennedy Krieger Inst, Dept Neuropsychol, 1750 E Fairmt Ave, Baltimore, MD 21231 USA.
EM mahone@kennedykrieger.org
FU Nesbit-McMaster Foundation [P30 HD24061, 1R01 HD068425, 1R21 MH092693,
1R01 NS043480, UL1 RR025005]
FX A portion of this study was presented at the annual meeting of the Child
Neurology Society, November, 2012. Supported by the Nesbit-McMaster
Foundation; P30 HD24061; 1R01 HD068425; 1R21 MH092693; 1R01 NS043480;
and UL1 RR025005. The funding agencies were not involved in the design,
data collection, data analysis, manuscript preparation, or publication
design.
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NR 33
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0012-1622
EI 1469-8749
J9 DEV MED CHILD NEUROL
JI Dev. Med. Child Neurol.
PD OCT
PY 2014
VL 56
IS 10
BP 1001
EP 1008
DI 10.1111/dmcn.12480
PG 8
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP5PM
UT WOS:000342131100020
PM 24814517
ER
PT J
AU Gunn, KS
Trembath, D
Hudry, K
AF Gunn, Katrine Sophie
Trembath, David
Hudry, Kristelle
TI An examination of interactions among children with autism and their
typically developing peers
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; communication; social interaction; peer interaction; play
ID ALTERNATIVE COMMUNICATION; ECOLOGICAL FEATURES; DISABILITIES;
PRESCHOOLERS; SPECTRUM; PLAY
AB Objective: To determine whether pre-school children with Autism Spectrum Disorders (ASD) interact differently with their peers with ASD compared to their typically developing (TD) peers, across three activities (free play, structured group time and semi-structured play) in an early intervention setting.
Methods: We completed a series of non-experimental case studies involving 13 children with ASD and two TD peers.
Results: We found trends, but no uniform differences, in the frequency or quality of means by which the children with ASD interacted with one another versus with their TD peers across the three contexts. The children with ASD interacted with both peer types more frequently during the semi-structured and structured activities, than during free play.
Conclusions: The children with ASD showed no clear bias towards one peer type over the other. Semi-structured activities may be the best context in which to facilitate peer interactions involving children with ASD in early intervention settings.
C1 [Gunn, Katrine Sophie; Trembath, David; Hudry, Kristelle] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia.
RP Trembath, D (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia.
EM D.Trembath@latrobe.edu.au
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NR 20
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD OCT
PY 2014
VL 17
IS 5
BP 327
EP 338
DI 10.3109/17518423.2013.778348
PG 12
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA AP0SS
UT WOS:000341774900005
PM 23869995
ER
PT J
AU Zhang, JS
Wang, AH
Li, Y
Lu, XY
Wang, F
Fang, F
AF Zhang, Jishui
Wang, Aihua
Li, Yan
Lu, Xiaoyan
Wang, Fang
Fang, Fang
TI Association of NCAM1 Polymorphisms with Autism and Parental Age at
Conception in a Chinese Han Population
SO GENETIC TESTING AND MOLECULAR BIOMARKERS
LA English
DT Article
ID CELL-ADHESION MOLECULE; DE-NOVO MUTATIONS; PATERNAL-AGE; SPECTRUM
DISORDERS; PSYCHIATRIC-DISORDERS; SYNAPTIC PLASTICITY; STRUCTURAL
VARIANTS; COMPLEX; BRAIN; SCHIZOPHRENIA
AB Aims: The neural cell adhesion molecule (NCAM) has been reported to be involved in the development of the central nervous system and its mRNA level might decrease in the serum of autistic patients. However, there was no evidence of the association of the NCAM1 gene polymorphisms with autism. In the present study, we enrolled 237 children with autism and 451 healthy control subjects. Then, we used the direct DNA sequencing for genotyping five tag single-nucleotide polymorphisms (SNPs) in the NCAM1 gene. Results: By using case-control association analyses, we found that three SNPs at the NCAM1 gene were associated with autism (rs4937786, p=0.015; rs12418058, p=0.0076; rs1436109, p=0.0023). Two of them remained significant after the Bonferroni multiple testing correction (rs12418058, p(corrcted)=0.038; rs1436109, p(corrcted)=0.012). Moreover, two of the SNPs were associated with the parental age at conception in autism (rs12418058, p=0.037; rs1436109, p=0.01). Conclusion: These results showed that NCAM1 might play an important role in the pathogenesis of autism.
C1 [Zhang, Jishui; Wang, Aihua; Li, Yan; Lu, Xiaoyan; Wang, Fang; Fang, Fang] Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China.
RP Zhang, JS (reprint author), Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, 56 Nanlishi Rd, Beijing 100045, Peoples R China.
EM zhangjishui@163.com; ff139@sohu.com
FU National Natural Science Foundation [81222017, 30870897]
FX The authors thank all subjects who participated in this study and their
colleagues for their assistance in recruiting patients in the study.
This research was supported by research grants from the National Natural
Science Foundation (grant numbers 81222017, 30870897).
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NR 46
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1945-0265
EI 1945-0257
J9 GENET TEST MOL BIOMA
JI Genet. Test. Mol. Biomark.
PD OCT 1
PY 2014
VL 18
IS 10
BP 690
EP 694
DI 10.1089/gtmb.2014.0055
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ0XZ
UT WOS:000342507300006
PM 25137309
ER
PT J
AU Marshall, J
Mendez, LMR
AF Marshall, Jennifer
Mendez, Linda M. Raffaele
TI Following Up on Community-Based Developmental Screening Do Young
Children Get the Services They Need?
SO INFANTS & YOUNG CHILDREN
LA English
DT Article
DE access to services; Child Find; developmental delay; early intervention;
parent satisfaction; preschoolers
ID SOCIAL VALIDATION; EARLY INTERVENTION; DELAYS; BARRIERS; PROGRAM;
SEEKING; AUTISM; HEALTH; HELP
AB Community-based efforts to identify young children with developmental delays have shown promise, yet little is known about what happens after screening. In this study, parents of 57 children between the ages of 3 and 5 years participated in a telephone survey that occurred 618 months after participation in a community-based screening program. Survey questions asked about whether parents had linked to recommended services, barriers to linkages, satisfaction with services, and continued unmet service needs. Although 70% of participants reported connecting to recommended services, only 54% reported that the service(s) met their child's needs. Continuing unmet needs included emotional-behavioral services; occupational therapy; child care and therapy for preschoolers; and more private or alternative options, particularly during after school hours and in rural areas. Implications for improving community-based services for children are discussed.
C1 [Marshall, Jennifer] Univ S Florida, Coll Publ Hlth, Tampa, FL 33612 USA.
[Mendez, Linda M. Raffaele] Univ S Florida, Sch Psychol Program, Tampa, FL 33612 USA.
RP Marshall, J (reprint author), Univ S Florida, Coll Publ Hlth, 13201 Bruce B Downs Blvd,MDC 56, Tampa, FL 33612 USA.
EM jmarshal@health.usf.edu
CR Al-Qabandi M, 2011, PEDIATRICS, V128, pE211, DOI 10.1542/peds.2010-1881
American Academy of Pediatrics, 2009, DEV MENT SCREEN EARL
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NR 40
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0896-3746
EI 1550-5081
J9 INFANT YOUNG CHILD
JI Infants Young Child.
PD OCT-DEC
PY 2014
VL 27
IS 4
BP 276
EP 291
DI 10.1097/IYC.0000000000000019
PG 16
WC Education, Special; Psychology, Developmental; Rehabilitation
SC Education & Educational Research; Psychology; Rehabilitation
GA AP1FC
UT WOS:000341811400002
ER
PT J
AU Kaartinen, M
Puura, K
Helminen, M
Salmelin, R
Pelkonen, E
Juujarvi, P
AF Kaartinen, Miia
Puura, Kaija
Helminen, Mika
Salmelin, Raili
Pelkonen, Erja
Juujarvi, Petri
TI Reactive aggression among children with and without autism spectrum
disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Aggression; Inhibitory processes; Gender
ID INTELLECTUAL DISABILITIES; ASPERGER-SYNDROME; CONDUCT DISORDER;
CHILDHOOD; BEHAVIOR; HYPERACTIVITY; PERSONALITY; IMPAIRMENT; AMYGDALA;
ADULTS
AB Twenty-seven boys and eight girls with ASD and thirty-five controls matched for gender, age and total score intelligence were studied to ascertain whether boys and girls with ASD display stronger reactive aggression than boys and girls without ASD. Participants performed a computerized version of the Pulkkinen aggression machine that examines the intensity of reactive aggression against attackers of varying gender and age. Relative to the control group boys, the boys with ASD reacted with more serious forms of aggression when subjected to mild aggressive attacks and did not consider a child attacker's opposite sex an inhibitory factor. The girls with ASD, on the other hand, reacted less aggressively than the girls without ASD. According to the results boys with ASD may not follow the typical development in cognitive regulation of reactive aggression.
C1 [Kaartinen, Miia; Puura, Kaija; Salmelin, Raili; Pelkonen, Erja] Tampere Univ Hosp, Dept Child Psychiat, Tampere 33521, Finland.
[Kaartinen, Miia; Puura, Kaija] Univ Tampere, Dept Child Psychiat, Sch Med, Tampere 33014, Finland.
[Helminen, Mika] Pirkanmaa Hosp Dist, Ctr Sci, Tampere 33521, Finland.
[Helminen, Mika; Salmelin, Raili] Univ Tampere, Tampere Sch Hlth Sci, Tampere 33014, Finland.
[Juujarvi, Petri] Kuopio Univ Hosp, Dept Adolescent Psychiat, Kuopio 70211, Finland.
RP Kaartinen, M (reprint author), Tampere Univ Hosp, Dept Child Psychiat, Box 2000, Tampere 33521, Finland.
EM miia.kaartinen@fimnet.fi
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 36
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 OCT
PY 2014
VL 44
IS 10
BP 2383
EP 2391
DI 10.1007/s10803-012-1743-1
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800001
PM 23263769
ER
PT J
AU Davidson, J
Goin-Kochel, RP
Green-Snyder, LA
Hundley, RJ
Warren, Z
Peters, SU
AF Davidson, Julie
Goin-Kochel, Robin P.
Green-Snyder, Lee Anne
Hundley, Rachel J.
Warren, Zachary
Peters, Sarika U.
TI Expression of the Broad Autism Phenotype in Simplex Autism Families from
the Simons Simplex Collection
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Broad autism phenotype
ID MULTIPLE-INCIDENCE; PARENTS; PERSONALITY; INDIVIDUALS; DISORDERS;
SIBLINGS; GENETICS; TRAITS; REGRESSION; PROBANDS
AB The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD.
C1 [Davidson, Julie; Hundley, Rachel J.; Warren, Zachary; Peters, Sarika U.] Vanderbilt Univ, Dept Pediat, Nashville, TN 37203 USA.
[Davidson, Julie; Hundley, Rachel J.; Warren, Zachary; Peters, Sarika U.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Goin-Kochel, Robin P.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.
[Green-Snyder, Lee Anne] Childrens Hosp, Boston, MA 02115 USA.
RP Peters, SU (reprint author), Vanderbilt Univ, Dept Pediat, 230 Appleton Pl,PMB 74, Nashville, TN 37203 USA.
EM sarika.u.peters@vanderbilt.edu
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471
Bernier R., 2011, AUTISM RES
Burmeister M, 2008, NAT REV GENET, V9, P527, DOI 10.1038/nrg2381
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NR 26
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 OCT
PY 2014
VL 44
IS 10
BP 2392
EP 2399
DI 10.1007/s10803-012-1492-1
PG 8
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800002
PM 22382605
ER
PT J
AU Hus, V
Gotham, K
Lord, C
AF Hus, Vanessa
Gotham, Katherine
Lord, Catherine
TI Standardizing ADOS Domain Scores: Separating Severity of Social Affect
and Restricted and Repetitive Behaviors
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Autism Diagnostic Observation Schedule;
Severity; Social Affect; Restricted and Repetitive Behaviors
ID AUTISM SPECTRUM DISORDERS; DIAGNOSTIC OBSERVATION SCHEDULE; CRITERIA;
VALIDITY
AB Standardized Autism Diagnostic Observation Schedule (ADOS) scores provide a measure of autism severity that is less influenced by child characteristics than raw totals (Gotham et al. in Journal of Autism and Developmental Disorders, 39(5), 693-705 2009). However, these scores combine symptoms from the Social Affect (SA) and Restricted and Repetitive Behaviors (RRB) domains. Separate calibrations of each domain would provide a clearer picture of ASD dimensions. The current study separately calibrated raw totals from the ADOS SA and RRB domains. Standardized domain scores were less influenced by child characteristics than raw domain totals, thereby increasing their utility as indicators of Social-Communication and Repetitive Behavior severity. Calibrated domain scores should facilitate efforts to examine trajectories of ASD symptoms and links between neurobiological and behavioral dimensions.
C1 [Hus, Vanessa] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA.
[Gotham, Katherine] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37235 USA.
[Lord, Catherine] Weill Cornell Med Coll, Ctr Autism & Developing Brain, White Plains, NY USA.
RP Hus, V (reprint author), Univ Michigan, Dept Psychol, 530 Church St, Ann Arbor, MI 48109 USA.
EM vhus@umich.edu
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American Psychiatric Association, 2011, DSM 5 DEV 09 AUT SPE
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NR 28
TC 9
Z9 9
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 OCT
PY 2014
VL 44
IS 10
BP 2400
EP 2412
DI 10.1007/s10803-012-1719-1
PG 13
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800003
PM 23143131
ER
PT J
AU Patten, E
Belardi, K
Baranek, GT
Watson, LR
Labban, JD
Oller, DK
AF Patten, Elena
Belardi, Katie
Baranek, Grace T.
Watson, Linda R.
Labban, Jeffrey D.
Oller, D. Kimbrough
TI Vocal Patterns in Infants with Autism Spectrum Disorder: Canonical
Babbling Status and Vocalization Frequency
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Canonical babbling; Volubility; Vocal patterns; Early detection
ID SPEECH-LIKE VOCALIZATIONS; YOUNG-CHILDREN; DEVELOPMENTAL DELAYS;
EARLY-DIAGNOSIS; DOWN-SYNDROME; RISK-FACTORS; HEARING-LOSS; LATE-ONSET;
2ND YEAR; LANGUAGE
AB Canonical babbling is a critical milestone for speech development and is usually well in place by 10 months. The possibility that infants with autism spectrum disorder (ASD) show late onset of canonical babbling has so far eluded evaluation. Rate of vocalization or "volubility" has also been suggested as possibly aberrant in infants with ASD. We conducted a retrospective video study examining vocalizations of 37 infants at 9-12 and 15-18 months. Twenty-three of the 37 infants were later diagnosed with ASD and indeed produced low rates of canonical babbling and low volubility by comparison with the 14 typically developing infants. The study thus supports suggestions that very early vocal patterns may prove to be a useful component of early screening and diagnosis of ASD.
C1 [Patten, Elena] Univ N Carolina, Dept Commun Sci & Disorders, Greensboro, NC 27402 USA.
[Belardi, Katie; Baranek, Grace T.; Watson, Linda R.] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC 27599 USA.
[Labban, Jeffrey D.] Univ N Carolina, Greensboro, NC 27412 USA.
[Oller, D. Kimbrough] Univ Memphis, Memphis, TN 38105 USA.
[Oller, D. Kimbrough] Konrad Lorenz Inst Evolut & Cognit Res, Klosterneuburg, Austria.
RP Patten, E (reprint author), Univ N Carolina, Dept Commun Sci & Disorders, 300 Ferguson Bldg, Greensboro, NC 27402 USA.
EM e_patten@uncg.edu
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NR 86
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 OCT
PY 2014
VL 44
IS 10
BP 2413
EP 2428
DI 10.1007/s10803-014-2047-4
PG 16
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800004
PM 24482292
ER
PT J
AU Pillai, D
Sheppard, E
Ropar, D
Marsh, L
Pearson, A
Mitchell, P
AF Pillai, Dhanya
Sheppard, Elizabeth
Ropar, Danielle
Marsh, Lauren
Pearson, Amy
Mitchell, Peter
TI Using Other Minds as a Window Onto the World: Guessing What Happened
from Clues in Behaviour
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Mentalising; Retrodiction; Social cognition; Mental states; Face
processing; Eye tracking
ID HIGH-FUNCTIONING ADULTS; FACIAL EXPRESSIONS; ASPERGERS-SYNDROME; AUTISM;
PERCEPTION; CHILDREN; SPECTRUM; EYES; EMOTIONS; INDIVIDUALS
AB It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four "scenarios" each person responded to. Participants' eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction.
C1 [Pillai, Dhanya; Sheppard, Elizabeth; Mitchell, Peter] Univ Nottingham, Semenyih 43500, Selangor, Malaysia.
[Pillai, Dhanya] Univ Nottingham, Sch Psychol, Semenyih 43500, Selangor, Malaysia.
[Ropar, Danielle; Marsh, Lauren; Pearson, Amy] Univ Nottingham, Nottingham NG7 2RD, England.
RP Pillai, D (reprint author), Univ Nottingham, Sch Psychol, Malaysia Campus, Semenyih 43500, Selangor, Malaysia.
EM khpx9dkr@nottingham.edu.my
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2430
EP 2439
DI 10.1007/s10803-014-2106-x
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800006
PM 24710812
ER
PT J
AU Baldwin, S
Costley, D
Warren, A
AF Baldwin, Susanna
Costley, Debra
Warren, Anthony
TI Employment Activities and Experiences of Adults with High-Functioning
Autism and Asperger's Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Asperger's Disorder; High functioning; Employment; Overeducation
ID LABOR-MARKET; OVEREDUCATION; UNDEREDUCATION
AB There is limited large-scale empirical research into the working lives of adults who have an autism spectrum disorder with no co-occurring intellectual disability. Drawing on data from a national survey, this report describes the employment activities and experiences of 130 adults with Asperger's Disorder (AD) and high functioning autism (HFA) in Australia. Outcome measures include current occupation; occupational skill level and alignment with educational attainment; type of job contract; hours of work; support received to find work; support received in the workplace; and positive and negative experiences of employment. The findings confirm and expand upon existing evidence that adults with AD and HFA, despite their capacity and willingness to work, face significant disadvantages in the labour market and a lack of understanding and support in employment settings.
C1 [Baldwin, Susanna; Costley, Debra; Warren, Anthony] Autism Spectrum Australia Aspect, Forestville, NSW 2087, Australia.
[Baldwin, Susanna] Autism Spectrum Australia Aspect, Seven Hills, NSW 1730, Australia.
RP Costley, D (reprint author), Autism Spectrum Australia Aspect, POB 361, Forestville, NSW 2087, Australia.
EM sbaldwin@autismspectrum.org.au; dcostley@autismspectrum.org.au
CR ABS, 2012, GEND IND
ABS, 2009, AUSTR SOC TRENDS
ABS, 2012, EMPL EARN HOURS
ABS, 2012, LAB FORC AUSTR
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Voon D, 2005, ECON REC, V81, pS22, DOI 10.1111/j.1475-4932.2005.00247.x
NR 31
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 OCT
PY 2014
VL 44
IS 10
BP 2440
EP 2449
DI 10.1007/s10803-014-2112-z
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800007
PM 24715257
ER
PT J
AU Smith, MJ
Ginger, EJ
Wright, K
Wright, MA
Taylor, JL
Humm, LB
Olsen, DE
Bell, MD
Fleming, MF
AF Smith, Matthew J.
Ginger, Emily J.
Wright, Katherine
Wright, Michael A.
Taylor, Julie Lounds
Humm, Laura Boteler
Olsen, Dale E.
Bell, Morris D.
Fleming, Michael F.
TI Virtual Reality Job Interview Training in Adults with Autism Spectrum
Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Internet-based intervention; Job interview
skills; Vocational training
ID YOUNG-ADULTS; MISSING DATA; EMPLOYMENT; TRANSITION; INDIVIDUALS; VERSION
AB The feasibility and efficacy of virtual reality job interview training (VR-JIT) was assessed in a single-blinded randomized controlled trial. Adults with autism spectrum disorder were randomized to VR-JIT (n = 16) or treatment-as-usual (TAU) (n = 10) groups. VR-JIT consisted of simulated job interviews with a virtual character and didactic training. Participants attended 90 % of laboratory-based training sessions, found VR-JIT easy to use and enjoyable, and they felt prepared for future interviews. VR-JIT participants had greater improvement during live standardized job interview role-play performances than TAU participants (p = 0.046). A similar pattern was observed for self-reported self-confidence at a trend level (p = 0.060). VR-JIT simulation performance scores increased over time (R (2) = 0.83). Results indicate preliminary support for the feasibility and efficacy of VR-JIT, which can be administered using computer software or via the internet.
C1 [Smith, Matthew J.; Ginger, Emily J.; Wright, Katherine; Wright, Michael A.; Fleming, Michael F.] Northwestern Univ, Dept Psychiat & Behav Sci, Feinberg Sch Med, Chicago, IL 60611 USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Special Educ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Humm, Laura Boteler; Olsen, Dale E.] SIMmersion LLC, Columbia, MD 21046 USA.
[Bell, Morris D.] Yale Univ, Sch Med, Dept Psychiat, West Haven, CT 06516 USA.
[Bell, Morris D.] Yale Univ, Sch Med, Dept Vet Affairs, VACHS, West Haven, CT 06516 USA.
RP Smith, MJ (reprint author), Northwestern Univ, Dept Psychiat & Behav Sci, Feinberg Sch Med, 710 N Lake Shore Dr,Abbott Hall 13th Floor, Chicago, IL 60611 USA.
EM matthewsmith@northwestern.edu
CR Aldridge FJ, 2012, J AUTISM DEV DISORD, V42, P294, DOI 10.1007/s10803-011-1242-9
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Wilkinson G. S., 2006, WIDE RANGE ACHIEVEME
WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288
NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2450
EP 2463
DI 10.1007/s10803-014-2113-y
PG 14
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800008
PM 24803366
ER
PT J
AU Gevarter, C
O'Reilly, MF
Rojeski, L
Sammarco, N
Sigafoos, J
Lancioni, GE
Lang, R
AF Gevarter, Cindy
O'Reilly, Mark F.
Rojeski, Laura
Sammarco, Nicolette
Sigafoos, Jeff
Lancioni, Giulio E.
Lang, Russell
TI Comparing Acquisition of AAC-Based Mands in Three Young Children with
Autism Spectrum Disorder Using iPad(A (R)) Applications with Different
Display and Design Elements
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Augmentative and alternative communication; Autism spectrum disorder;
iPad (R); Display; Comparative
ID DEVELOPMENTAL-DISABILITIES; ALTERNATIVE COMMUNICATION; INDIVIDUALS;
TECHNOLOGIES; LANGUAGE; STUDENTS; LAYOUTS; SYSTEM; VOCA; PECS
AB Augmentative and alternative communication (AAC) applications may differ in their use of display and design elements. Using a multielement design, this study compared mand acquisition in three preschool-aged males with autism spectrum disorder, across three different displays in two iPad(A (R)) AAC applications. Displays included a Widgit symbol button (GoTalk), a photographical hotspot (Scene and Heard), and a Widgit symbol button along with a photograph (Scene and Heard). Applications had additional design differences. Two participants showed more rapid and consistent acquisition with the photographical hotspot than with the symbol button format, but did not master the combined format. The third participant mastered all three conditions at comparable rates. Results suggest that AAC display and design elements may influence mand acquisition.
C1 [Gevarter, Cindy; O'Reilly, Mark F.; Rojeski, Laura; Sammarco, Nicolette] Univ Texas Austin, Dept Special Educ, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Lancioni, Giulio E.] Univ Bari, Bari, Italy.
[Lang, Russell] SW Texas State Univ, San Marcos, TX 78666 USA.
RP Gevarter, C (reprint author), Univ Texas Austin, Dept Special Educ, 1912 Speedway,D5300, Austin, TX 78712 USA.
EM cindygev@gmail.com
CR Achmadi D, 2012, RES AUTISM SPECT DIS, V6, P1258, DOI 10.1016/j.rasd.2012.05.005
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Angermeier K, 2008, RES AUTISM SPECT DIS, V2, P430, DOI 10.1016/j.rasd.2007.09.004
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Frost L., 2002, PICTURE EXCHANGE COM, V2nd
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Kagohara DM, 2013, RES DEV DISABIL, V34, P147, DOI 10.1016/j.ridd.2012.07.027
Kennedy C, 2005, SINGLE CASE DESIGNS
Lee A., 2013, DEV NEUROREHABIL, DOI [10.3109/17518423.2013.830231, DOI 10.3109/17518423.2013.830231]
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van der Meer L., 2012, J DEV PHYS DISABIL, V24, P1
van der Meer L, 2012, RES DEV DISABIL, V33, P1658, DOI 10.1016/j.ridd.2012.04.004
NR 33
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 OCT
PY 2014
VL 44
IS 10
BP 2464
EP 2474
DI 10.1007/s10803-014-2115-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800009
PM 24740458
ER
PT J
AU Carter, EJ
Williams, DL
Hodgins, JK
Lehman, JF
AF Carter, Elizabeth J.
Williams, Diane L.
Hodgins, Jessica K.
Lehman, Jill F.
TI Are Children with Autism More Responsive to Animated Characters? A Study
of Interactions with Humans and Human-Controlled Avatars
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Animated characters; Computer-assisted technology;
Computer-based interactions; Communication; Avatars
ID COMPUTER-ASSISTED-INSTRUCTION; SPECTRUM DISORDERS; LANGUAGE-DEVELOPMENT;
VOCABULARY; EXPERIENCE; MULTIMEDIA; INFANCY; BRAIN
AB Few direct comparisons have been made between the responsiveness of children with autism to computer-generated or animated characters and their responsiveness to humans. Twelve 4- to 8-year-old children with autism interacted with a human therapist; a human-controlled, interactive avatar in a theme park; a human actor speaking like the avatar; and cartoon characters who sought social responses. We found superior gestural and verbal responses to the therapist; intermediate response levels to the avatar and the actor; and poorest responses to the cartoon characters, although attention was equivalent across conditions. These results suggest that even avatars that provide live, responsive interactions are not superior to human therapists in eliciting verbal and non-verbal communication from children with autism in this age range.
C1 [Carter, Elizabeth J.; Hodgins, Jessica K.] Carnegie Mellon Univ, Inst Robot, Pittsburgh, PA 15213 USA.
[Williams, Diane L.] Duquesne Univ, Rangos Sch Hlth Sci, Pittsburgh, PA 15282 USA.
[Hodgins, Jessica K.; Lehman, Jill F.] Carnegie Mellon Univ, Dept Comp Sci, Pittsburgh, PA 15213 USA.
RP Carter, EJ (reprint author), Carnegie Mellon Univ, Inst Robot, 5000 Forbes Ave, Pittsburgh, PA 15213 USA.
EM liz.carter@aya.yale.edu; jill@kidaccess.com
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Hailpern J., 2008, SPOKEN IMPACT PROJEC
Jones V., 2008, BETTER HLTH
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Lasseter J., 2003, FINDING NEMO
Linebarger D. L., 2004, AM BEHAV SCI, V46, P1
LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145
Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947
Miller J., 2010, SYSTEMATIC ANAL LANG
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Williams JHG, 2004, RES DEV DISABIL, V25, P559, DOI 10.1016/j.ridd.2004.01.008
NR 27
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD OCT
PY 2014
VL 44
IS 10
BP 2475
EP 2485
DI 10.1007/s10803-014-2116-8
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800010
PM 24859047
ER
PT J
AU Gordon, I
Pierce, MD
Bartlett, MS
Tanaka, JW
AF Gordon, Iris
Pierce, Matthew D.
Bartlett, Marian S.
Tanaka, James W.
TI Training Facial Expression Production in Children on the Autism Spectrum
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autism spectrum disorder; Facial expression; Expression
production; Intervention; Social communication
ID EMOTIONAL EXPRESSIONS; AFFECTIVE CONTACT; RECOGNITION; IMITATION;
BEHAVIOR; MIMICRY; FACE; DISTURBANCES; PERCEPTION; VOLUNTARY
AB Children with autism spectrum disorder (ASD) show deficits in their ability to produce facial expressions. In this study, a group of children with ASD and IQ-matched, typically developing (TD) children were trained to produce "happy" and "angry" expressions with the FaceMaze computer game. FaceMaze uses an automated computer recognition system that analyzes the child's facial expression in real time. Before and after playing the Angry and Happy versions of FaceMaze, children posed "happy" and "angry" expressions. Na < ve raters judged the post-FaceMaze "happy" and "angry" expressions of the ASD group as higher in quality than their pre-FaceMaze productions. Moreover, the post-game expressions of the ASD group were rated as equal in quality as the expressions of the TD group.
C1 [Gordon, Iris; Pierce, Matthew D.; Tanaka, James W.] Univ Victoria, Dept Psychol, Victoria, BC V8W 3P5, Canada.
[Bartlett, Marian S.] Univ Calif San Diego, San Diego, CA 92103 USA.
RP Gordon, I (reprint author), Univ Victoria, Dept Psychol, POB 3050, Victoria, BC V8W 3P5, Canada.
EM igordon@uvic.ca; jtanaka@uvic.ca
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Atkinson A. P., 2005, EMOTION CONSCIOUSNES, P150
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NR 48
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 OCT
PY 2014
VL 44
IS 10
BP 2486
EP 2498
DI 10.1007/s10803-014-2118-6
PG 13
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800011
PM 24777287
ER
PT J
AU Koolen, S
Vissers, CTWM
Egger, JIM
Verhoeven, L
AF Koolen, Sophieke
Vissers, Constance Th. W. M.
Egger, Jos I. M.
Verhoeven, Ludo
TI How Stimulus and Task Complexity Affect Monitoring in High-Functioning
Adults with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Executive function; Monitoring; Task variables
ID EXECUTIVE DYSFUNCTION; ASPERGER-SYNDROME; SPATIAL ATTENTION;
YOUNG-CHILDREN; VISUAL-SEARCH; PERFORMANCE; MEMORY; DISENGAGEMENT;
ABNORMALITY; CEREBELLAR
AB The present study examined whether individuals with autism spectrum disorder (ASD) are able to update and monitor working memory representations of visual input, and whether performance is influenced by stimulus and task complexity. 15 high-functioning adults with ASD and 15 controls were asked to allocate either elements of abstract figures or semantically meaningful pictures to the correct category, according to a certain set of rules. In general, the groups did not differ on measures of intelligence, working memory, attention, fluency and memory. For the monitoring of allocation of abstract figures, a similar pattern of reaction times was found for ASD and control participants. For the monitoring of allocation of semantically meaningful pictures, a different response pattern was found, with a stronger increase in response times for the ASD than for the control group when the number of categories increased. This suggests that participants with ASD are able to monitor working memory representations, but suffer under more complex circumstances.
C1 [Koolen, Sophieke] Vincent van Gogh Inst Psychiat, NL-5803 AC Venray, Netherlands.
[Vissers, Constance Th. W. M.; Egger, Jos I. M.] Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, NL-5803 AC Venray, Netherlands.
[Vissers, Constance Th. W. M.; Egger, Jos I. M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Ctr Cognit, NL-6500 HE Nijmegen, Netherlands.
[Egger, Jos I. M.; Verhoeven, Ludo] Radboud Univ Nijmegen, Inst Behav Sci, NL-6500 HE Nijmegen, Netherlands.
RP Koolen, S (reprint author), Vincent van Gogh Inst Psychiat, Stationsweg 46, NL-5803 AC Venray, Netherlands.
EM skoolen@vvgi.nl; cvissers@vvgi.nl; j.egger@psych.ru.nl;
l.verhoeven@pwo.ru.nl
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2499
EP 2513
DI 10.1007/s10803-014-2119-5
PG 15
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800012
PM 24838251
ER
PT J
AU Meyer, BJ
Gardiner, JM
Bowler, DM
AF Meyer, Brenda J.
Gardiner, John M.
Bowler, Dermot M.
TI Directed Forgetting in High-Functioning Adults with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Autonoetic awareness; Elaborative rehearsal; Episodic memory
ID LONG-TERM-MEMORY; FREE-RECALL; ASPERGERS-SYNDROME; EPISODIC MEMORY;
MAINTENANCE REHEARSAL; AMNESIC SYNDROME; LIST METHODS; CHILDREN; MIND;
RECOGNITION
AB Rehearsal strategies of adults with autism spectrum disorders (ASDs) and demographically matched typically developed (TD) adults were strategically manipulated by cueing participants to either learn, or forget each list word prior to a recognition task. Participants were also asked to distinguish between autonoetic and noetic states of awareness using the Remember/Know paradigm. The ASD group recognised a similar number of to-be-forgotten words as the TD group, but significantly fewer to-be-learned words. This deficit was only evident in Remember responses that reflect autonoetic awareness, or episodic memory, and not Know responses. These findings support the elaborative encoding deficit hypothesis and provide a link between the previously established mild episodic memory impairments in adults with high functioning autism and the encoding strategies employed.
C1 [Meyer, Brenda J.] Univ Southampton, Dev Brain Behav Lab, Southampton SO17 1BJ, Hants, England.
[Meyer, Brenda J.; Gardiner, John M.] Univ Sussex, Dept Psychol, Sch Life Sci, Brighton, E Sussex, England.
[Gardiner, John M.; Bowler, Dermot M.] City Univ London, Autism Res Grp, Dept Psychol, London EC1V 0HB, England.
RP Meyer, BJ (reprint author), Univ Southampton, Dev Brain Behav Lab, 44 Highfield Campus, Southampton SO17 1BJ, Hants, England.
EM B.J.Meyer@soton.ac.uk
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World Health Organisation, 1992, ICD 10 CLASS MENT BE
NR 45
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 OCT
PY 2014
VL 44
IS 10
BP 2514
EP 2524
DI 10.1007/s10803-014-2121-y
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800013
PM 24722763
ER
PT J
AU Goldman, SE
Adkins, KW
Calcutt, MW
Carter, MD
Goodpaster, RL
Wang, L
Shi, YP
Burgess, HJ
Hachey, DL
Malow, BA
AF Goldman, Suzanne E.
Adkins, Karen W.
Calcutt, M. Wade
Carter, Melissa D.
Goodpaster, Robert L.
Wang, Lily
Shi, Yaping
Burgess, Helen J.
Hachey, David L.
Malow, Beth A.
TI Melatonin in Children with Autism Spectrum Disorders: Endogenous and
Pharmacokinetic Profiles in Relation to Sleep
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Insomnia; N-acetylserotonin; Dim light melatonin onset
ID ORAL MELATONIN; BIOAVAILABILITY; HUMANS; RHYTHM; BEHAVIORS; PLASMA; ASMT
AB Supplemental melatonin has been used to treat sleep onset insomnia in children with autism spectrum disorders (ASD), although the mechanism of action is uncertain. We assessed endogenous and supplemental melatonin profiles in relation to sleep in nine children with ASD. In endogenous samples, maximal melatonin concentration (C (max)) and time to peak concentration (T (max)) were comparable to those previously published in the literature for typically developing children, and dim light melatonin onsets were captured in the majority of children. In treatment samples (supplemental melatonin), melatonin parameters were also comparable to those previously published for typically developing children. Our findings support that children with ASD and insomnia responsive to low dose melatonin treatment have relatively normal profiles of endogenous and supplemental melatonin.
C1 [Goldman, Suzanne E.; Adkins, Karen W.; Goodpaster, Robert L.; Malow, Beth A.] Vanderbilt Univ, Med Ctr, Dept Neurol, Burry Chair Cognit Childhood Dev,Sleep Disorders, Nashville, TN 37232 USA.
[Goldman, Suzanne E.; Adkins, Karen W.; Goodpaster, Robert L.; Malow, Beth A.] Vanderbilt Univ, Med Ctr, Dept Pediat, Burry Chair Cognit Childhood Dev,Sleep Disorders, Nashville, TN 37232 USA.
[Calcutt, M. Wade; Carter, Melissa D.] Vanderbilt Univ, Med Ctr, Dept Biochem, Nashville, TN 37232 USA.
[Calcutt, M. Wade; Carter, Melissa D.; Hachey, David L.] Vanderbilt Univ, Med Ctr, Mass Spectrometry Res Ctr, Nashville, TN 37232 USA.
[Wang, Lily; Shi, Yaping] Vanderbilt Univ, Med Ctr, Dept Biostat, Nashville, TN 37232 USA.
[Burgess, Helen J.] Rush Univ, Dept Behav Sci, Med Ctr, Chicago, IL 60612 USA.
[Hachey, David L.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.
RP Malow, BA (reprint author), Vanderbilt Univ, Med Ctr, Dept Neurol, Burry Chair Cognit Childhood Dev,Sleep Disorders, 1161 21st Ave South,Room A-0116, Nashville, TN 37232 USA.
EM beth.malow@vanderbilt.edu
CR ALDHOUS M, 1985, BRIT J CLIN PHARMACO, V19, P517
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 40
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 OCT
PY 2014
VL 44
IS 10
BP 2525
EP 2535
DI 10.1007/s10803-014-2123-9
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800014
PM 24752680
ER
PT J
AU Ballinger, EC
Cordeiro, L
Chavez, AD
Hagerman, RJ
Hessl, D
AF Ballinger, Elizabeth C.
Cordeiro, Lisa
Chavez, Alyssa D.
Hagerman, Randi J.
Hessl, David
TI Emotion Potentiated Startle in Fragile X Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Fragile X syndrome; Social anxiety; Amygdala; Startle; Autism
ID DIAGNOSTIC OBSERVATION SCHEDULE; ABERRANT BEHAVIOR CHECKLIST; FMR-1 FULL
MUTATION; SOCIAL-BEHAVIOR; FACIAL EXPRESSIONS; MENTAL-RETARDATION; MOUSE
MODEL; AMYGDALA DYSFUNCTION; TWINS DISCORDANT; ACOUSTIC STARTLE
AB Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We investigated the relationship between social avoidance and emotion-potentiated startle, a probe of amygdala activation, in children and adolescents with FXS, developmental disability without FXS (DD), and typical development. Individuals with FXS or DD demonstrated significantly reduced potentiation to fearful faces than a typically developing control group (p < .05). However, among individuals with FXS, social avoidance correlated positively with fearful-face potentiation (p < .05). This suggests that general intellectual disability blunts amygdalar response, but differential amygdala responsiveness to social stimuli contributes to phenotypic variability among individuals with FXS.
C1 [Ballinger, Elizabeth C.] SUNY Stony Brook, Grad Program Neurosci, Dept Neurobiol & Behav, Stony Brook, NY 11794 USA.
[Cordeiro, Lisa] Univ Colorado Sch Med, Dept Pediat, Aurora, CO 80045 USA.
[Chavez, Alyssa D.] Empir Educ, Palo Alto, CA 94306 USA.
[Hagerman, Randi J.] Univ Calif Davis Med Ctr, Dept Pediat, MIND Inst, Sacramento, CA 95817 USA.
[Hessl, David] Univ Calif Davis Med Ctr, Dept Psychiat & Behav Sci, MIND Inst, Sacramento, CA 95817 USA.
RP Hessl, D (reprint author), Univ Calif Davis Med Ctr, Dept Psychiat & Behav Sci, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM david.hessl@ucdmc.ucdavis.edu
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NR 65
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 OCT
PY 2014
VL 44
IS 10
BP 2536
EP 2546
DI 10.1007/s10803-014-2125-7
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800015
PM 24816942
ER
PT J
AU Jokiranta, E
Sourander, A
Suominen, A
Timonen-Soivio, L
Brown, AS
Sillanpaa, M
AF Jokiranta, Elina
Sourander, Andre
Suominen, Auli
Timonen-Soivio, Laura
Brown, Alan S.
Sillanpaa, Matti
TI Epilepsy Among Children and Adolescents with Autism Spectrum Disorders:
A Population-Based Study
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Epilepsy; Autism spectrum disorders; Intellectual disability; Gender;
Age at onset; Population-based
ID MENTAL-RETARDATION; RECURRENT REARRANGEMENTS; INTELLECTUAL DISABILITY;
PSYCHIATRIC-DISORDERS; PREVALENCE; SCHIZOPHRENIA; INDIVIDUALS;
COMORBIDITY; CHILDHOOD; SEIZURES
AB The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger's syndrome or pervasive developmental disorders-not otherwise specified. Each case was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Epilepsy was associated with ASD regardless of the subgroup after adjusting for covariates. The associations were stronger among cases with intellectual disability, especially among females. Epilepsy's age at onset was similar between the cases and controls regardless of the ASD subgroup. These findings emphasize the importance to examine the neurodevelopmental pathways in ASD, epilepsy and intellectual disability.
C1 [Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura] Turku Univ Hosp, FIN-20520 Turku, Finland.
[Sourander, Andre; Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Timonen-Soivio, Laura] Univ Helsinki, Cent Hosp, Dept Child Neurol, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA.
[Sillanpaa, Matti] Univ Turku, Dept Child Neurol, Turku 20014, Finland.
[Sillanpaa, Matti] Univ Turku, Dept Publ Hlth, Turku 20014, Finland.
RP Jokiranta, E (reprint author), Univ Turku, Dept Child Psychiat, Lemminkaisenkatu 3 Teutori 3rd Floor, Turku 20014, Finland.
EM ekjoki@utu.fi; andre.sourander@utu.fi
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NR 50
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 OCT
PY 2014
VL 44
IS 10
BP 2547
EP 2557
DI 10.1007/s10803-014-2126-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800016
PM 24803367
ER
PT J
AU Gidaya, NB
Lee, BK
Burstyn, I
Yudell, M
Mortensen, EL
Newschaffer, CJ
AF Gidaya, Nicole B.
Lee, Brian K.
Burstyn, Igor
Yudell, Michael
Mortensen, Erik L.
Newschaffer, Craig J.
TI In Utero Exposure to Selective Serotonin Reuptake Inhibitors and Risk
for Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Selective serotonin reuptake inhibitors;
Pregnancy; Depression
ID POPULATION-BASED COHORT; MATERNAL DEPRESSION; ANTIDEPRESSANT USE;
PRENATAL EXPOSURE; PSYCHIATRIC-DISORDERS; PREGNANCY OUTCOMES;
EMOTIONAL-PROBLEMS; IMPACT; CHILD; MOOD
AB We investigated whether there is an association between increased risk for autism spectrum disorders (ASD) and selective serotonin reuptake inhibitors (SSRIs) used during pregnancy. This study used Denmark's health and population registers to obtain information regarding prescription drugs, ASD diagnosis, and health and socioeconomic status. There were 1.5 % of cases and 0.7 % of controls exposed to SSRIs during the pregnancy period, and higher effect estimates observed with longer use. We found evidence that in utero exposure to SSRIs increases a child's risk associated with ASD. These results, while adding to the limited knowledge on prenatal pharmacological exposures as potential ASD risk factors, need to be balanced against the benefits of indicated medication use by pregnant mothers.
C1 [Gidaya, Nicole B.; Lee, Brian K.; Burstyn, Igor; Yudell, Michael] Drexel Univ, Sch Publ Hlth, Philadelphia, PA 19104 USA.
[Mortensen, Erik L.] Univ Copenhagen, Inst Folkesundhedsvidenskab, DK-1353 Copenhagen K, Denmark.
[Newschaffer, Craig J.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
RP Gidaya, NB (reprint author), Drexel Univ, Sch Publ Hlth, Nesbitt Hall,3215 Market St, Philadelphia, PA 19104 USA.
EM ngidaya@gmail.com
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NR 58
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 OCT
PY 2014
VL 44
IS 10
BP 2558
EP 2567
DI 10.1007/s10803-014-2128-4
PG 10
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800017
PM 24803368
ER
PT J
AU Olofson, EL
Casey, D
Oluyedun, OA
Van Herwegen, J
Becerra, A
Rundblad, G
AF Olofson, Eric L.
Casey, Drew
Oluyedun, Olufemi A.
Van Herwegen, Jo
Becerra, Adam
Rundblad, Gabriella
TI Youth with Autism Spectrum Disorder Comprehend Lexicalized and Novel
Primary Conceptual Metaphors
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Metaphor; Conceptual metaphor; Language
ID METONYMY COMPREHENSION; CHILDRENS COMPREHENSION; FIGURATIVE LANGUAGE;
ASPERGER-SYNDROME; CONTEXT; CONNECTIVITY; COMPETENCE; KNOWLEDGE;
THINKING; ADULTS
AB Individuals with autism spectrum disorder (ASD) have difficulty comprehending metaphors. However, no study to date has examined whether or not they understand conceptual metaphors (i.e. mappings between conceptual structures), which could be the building blocks of metaphoric thinking and understanding. We investigated whether 13 participants with ASD (age 7;03-22;03) and 13 age-matched typically developing (TD) controls could comprehend lexicalized conceptual metaphors (e.g., Susan is a warm person) and novel ones (e.g., Susan is a toasty person). Individuals with ASD performed at greater than chance levels on both metaphor types, although their performance was lower than TD participants. We discuss the theoretical relevance of these findings and educational implications.
C1 [Olofson, Eric L.; Casey, Drew; Oluyedun, Olufemi A.; Becerra, Adam] Wabash Coll, Crawfordsville, IN 47933 USA.
[Van Herwegen, Jo] Univ Kingston, Kingston Upon Thames KT1 2EE, Surrey, England.
[Rundblad, Gabriella] Kings Coll London, London SE1 9NH, England.
RP Olofson, EL (reprint author), Wabash Coll, 301 W Wabash Ave, Crawfordsville, IN 47933 USA.
EM olofsone@wabash.edu
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NR 78
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 OCT
PY 2014
VL 44
IS 10
BP 2568
EP 2583
DI 10.1007/s10803-014-2129-3
PG 16
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800018
PM 24803369
ER
PT J
AU Denmark, T
Atkinson, J
Campbell, R
Swettenham, J
AF Denmark, Tanya
Atkinson, Joanna
Campbell, Ruth
Swettenham, John
TI How do Typically Developing Deaf Children and Deaf Children with Autism
Spectrum Disorder Use the Face When Comprehending Emotional Facial
Expressions in British Sign Language?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Deafness; Sign language; Emotion; Facial
expression
ID RECOGNITION; DEFICITS; HEARING; PROSODY; GAZE
AB Facial expressions in sign language carry a variety of communicative features. While emotion can modulate a spoken utterance through changes in intonation, duration and intensity, in sign language specific facial expressions presented concurrently with a manual sign perform this function. When deaf adult signers cannot see facial features, their ability to judge emotion in a signed utterance is impaired (Reilly et al. in Sign Lang Stud 75:113-118, 1992). We examined the role of the face in the comprehension of emotion in sign language in a group of typically developing (TD) deaf children and in a group of deaf children with autism spectrum disorder (ASD). We replicated Reilly et al.'s (Sign Lang Stud 75:113-118, 1992) adult results in the TD deaf signing children, confirming the importance of the face in understanding emotion in sign language. The ASD group performed more poorly on the emotion recognition task than the TD children. The deaf children with ASD showed a deficit in emotion recognition during sign language processing analogous to the deficit in vocal emotion recognition that has been observed in hearing children with ASD.
C1 [Denmark, Tanya; Swettenham, John] UCL, Div Psychol & Language Sci, Dept Dev Sci, London WC1H 0PD, England.
[Denmark, Tanya; Atkinson, Joanna; Campbell, Ruth] UCL, Deafness Cognit & Language Res Ctr, London WC1H 0PD, England.
RP Denmark, T (reprint author), UCL, Deafness Cognit & Language Res Ctr, 49 Gordon Sq, London WC1H 0PD, England.
EM t.denmark@ucl.ac.uk
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NR 40
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 OCT
PY 2014
VL 44
IS 10
BP 2584
EP 2592
DI 10.1007/s10803-014-2130-x
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800019
PM 24803370
ER
PT J
AU Gelbar, NW
Smith, I
Reichow, B
AF Gelbar, Nicholas W.
Smith, Isaac
Reichow, Brian
TI Systematic Review of Articles Describing Experience and Supports of
Individuals with Autism Enrolled in College and University Programs
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; ASD; Asperger; College; University
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ASPERGER
SYNDROME; HIGHER-EDUCATION; SOCIAL-SKILLS; STUDENTS; NEURODIVERSITY;
PERSPECTIVES; CHILDHOOD; SYMPTOMS
AB The increase in the number of higher-functioning individuals with autism spectrum disorders (ASD) is likely to lead to an increased interest in postsecondary opportunities including degree-granting college and university programs. To provide an understanding of the current evidence-base for supporting individuals with ASD in higher education, this article reports the results of a systematic review of the literature concerning college students with ASD. Overall, 20 articles describing 69 individuals met the inclusion criteria. This small number of articles and participants indicates the scarcity of research on this topic and only two of these studies were experimental in nature. These studies described a video-self modeling intervention and a counseling intervention respectively. Eighteen "case studies" were also present in the literature that described difficulties ranging from anxiety to housing concerns. This review deliniates the limitation of our understanding of effective college programming for individuals with ASD.
C1 [Gelbar, Nicholas W.; Smith, Isaac; Reichow, Brian] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil, Farmington, CT 06030 USA.
RP Gelbar, NW (reprint author), Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil, 263 Farmington Ave,MC 6222, Farmington, CT 06030 USA.
EM gelbar@uchc.edu
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NR 55
TC 1
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 OCT
PY 2014
VL 44
IS 10
BP 2593
EP 2601
DI 10.1007/s10803-014-2135-5
PG 9
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800020
PM 24816943
ER
PT J
AU Braun, JM
Froehlich, T
Kalkbrenner, A
Pfeiffer, CM
Fazili, Z
Yolton, K
Lanphear, BP
AF Braun, Joseph M.
Froehlich, Tanya
Kalkbrenner, Amy
Pfeiffer, Christine M.
Fazili, Zia
Yolton, Kimberly
Lanphear, Bruce P.
TI Brief Report: Are Autistic-Behaviors in Children Related to Prenatal
Vitamin Use and Maternal Whole Blood Folate Concentrations?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Folate; Pregnancy; Prenatal vitamins
ID FOLIC-ACID SUPPLEMENTS; TOBACCO-SMOKE EXPOSURE; ONE-CARBON METABOLISM;
SPECTRUM DISORDERS; EARLY-PREGNANCY; RISK; REPRODUCIBILITY;
QUESTIONNAIRE; ASSOCIATION; VALIDITY
AB Prenatal multivitamin/folic acid supplement use may reduce the risk of autism spectrum disorders. We investigated whether 2nd trimester prenatal vitamin use and maternal whole blood folate (WBF) concentrations were associated with Social Responsiveness Scale (SRS) scores at 4-5 years of age in a prospective cohort of 209 mother-child pairs. After confounder adjustment, children born to women taking prenatal vitamins weekly/daily (n = 179) had lower odds of clinically elevated SRS scores (odds ratio 0.26; 95 % confidence interval 0.08, 0.89) than those who rarely/never took them (n = 30). WBF concentrations were not associated with SRS scores. The lack of association between WBF and autistic-behaviors may be due to the timing of biomarker measures relative to critical periods of brain development, confounding, or other modifying factors.
C1 [Braun, Joseph M.] Brown Univ, Dept Epidemiol, Sch Publ Hlth, Providence, RI 02912 USA.
[Froehlich, Tanya; Yolton, Kimberly] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Cincinnati, OH 45229 USA.
[Kalkbrenner, Amy] Univ Wisconsin, Zilber Sch Publ Hlth, Milwaukee, WI 53201 USA.
[Pfeiffer, Christine M.; Fazili, Zia] Ctr Dis Control & Prevent, Div Sci Lab, Natl Ctr Environm Hlth, Atlanta, GA 30341 USA.
[Lanphear, Bruce P.] Simon Fraser Univ, Fac Hlth & Sci, Burnaby, BC V5A 1S6, Canada.
[Lanphear, Bruce P.] BC Childrens & Womens Hosp, Child & Family Res Inst, Vancouver, BC V5Z 4H48, Canada.
RP Braun, JM (reprint author), Brown Univ, Dept Epidemiol, Sch Publ Hlth, Providence, RI 02912 USA.
EM joseph_braun_1@brown.edu
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NR 28
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 OCT
PY 2014
VL 44
IS 10
BP 2602
EP 2607
DI 10.1007/s10803-014-2114-x
PG 6
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800021
PM 24710813
ER
PT J
AU Prontera, P
Serino, D
Caldini, B
Scarponi, L
Merla, G
Testa, G
Muti, M
Napolioni, V
Mazzotta, G
Piccirilli, M
Donti, E
AF Prontera, Paolo
Serino, Domenico
Caldini, Bernardo
Scarponi, Laura
Merla, Giuseppe
Testa, Giuseppe
Muti, Marco
Napolioni, Valerio
Mazzotta, Giovanni
Piccirilli, Massimo
Donti, Emilio
TI Brief Report: Functional MRI of a Patient with 7q11.23 Duplication
Syndrome and Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; 7q11.23 Duplication; Amygdala;
Williams-Beuren syndrome; Limbic system; Magnetic resonance; Functional
magnetic resonance
ID EXPRESSIVE-LANGUAGE DELAY; WILLIAMS-BEUREN LOCUS; AMYGDALA VOLUME;
DE-NOVO; REGION; ADULTS; SIZE
AB The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.
C1 [Prontera, Paolo; Donti, Emilio] Univ Perugia, Med Genet Unit, Hosp SM della Misericordia, I-06123 Perugia, Italy.
[Serino, Domenico] Osped Pediat Bambino Gesu, Div Neurol, Rome, Italy.
[Caldini, Bernardo; Scarponi, Laura; Piccirilli, Massimo] Univ Perugia, Sect Psychiat & Clin Psychol, Terni Sch Med, I-06123 Perugia, Italy.
[Merla, Giuseppe] IRCCS Casa Sollievo della Sofferenza Hosp, Med Genet Unit, San Giovanni Rotondo, Italy.
[Testa, Giuseppe] European Inst Oncol, Dept Expt Oncol, Milan, Italy.
[Muti, Marco] Hosp S Maria, Dept Radiotherapy, Terni, Italy.
[Napolioni, Valerio] Innovat Pole Gen Genet & Biol, Perugia, Italy.
[Mazzotta, Giovanni] Univ Perugia, Sch Specializat Childhood Neurol & Psychiat, I-06123 Perugia, Italy.
RP Prontera, P (reprint author), Univ Perugia, Med Genet Unit, Hosp SM della Misericordia, Via E dal Pozzo, I-06123 Perugia, Italy.
EM pprontera@hotmail.com
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NR 17
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 OCT
PY 2014
VL 44
IS 10
BP 2608
EP 2613
DI 10.1007/s10803-014-2117-7
PG 6
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800022
PM 24722762
ER
PT J
AU Guy, L
Souders, M
Bradstreet, L
DeLussey, C
Herrington, JD
AF Guy, Lisa
Souders, Margaret
Bradstreet, Lauren
DeLussey, Christine
Herrington, John D.
TI Brief Report: Emotion Regulation and Respiratory Sinus Arrhythmia in
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Anxiety; Emotion regulation; Respiratory sinus
arrhythmia
ID NEUROVISCERAL INTEGRATION; NERVOUS-SYSTEM; VAGAL TONE; CHILDREN;
ANXIETY; MODEL; PSYCHOPATHOLOGY; DYSREGULATION; CHALLENGES; YOUTH
AB Emotion regulation (ER) may be an important transdiagnostic factor for understanding mental and behavioral health given its association with several psychiatric disorders, including autism spectrum disorder (ASD). However, there is limited research on ER in ASD, particularly using biomarkers such as respiratory sinus arrhythmia (RSA). The aim of the current study was to examine RSA among school-aged children with ASD in relation to symptoms of anxiety, executive functioning, and adaptive socialization skills. Results showed decreased RSA in children with ASD (relative to typically developing controls), reflecting decreased parasympathetic nervous system activity. In addition, decreased RSA was associated with increased symptoms of anxiety and lower socialization skills. These findings emphasize the need for interventions targeting emotional and arousal regulation in ASD.
C1 [Guy, Lisa; Souders, Margaret; Bradstreet, Lauren; DeLussey, Christine; Herrington, John D.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Souders, Margaret] Univ Penn, Sch Nursing, Philadelphia, PA 19104 USA.
[Herrington, John D.] Univ Penn, Dept Child Psychiat & Behav Sci, Perelman Sch Med, Philadelphia, PA 19104 USA.
RP Guy, L (reprint author), Childrens Hosp Philadelphia, Ctr Autism Res, 3535 Market St,Suite 860, Philadelphia, PA 19104 USA.
EM guyl1@email.chop.edu
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NR 33
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 OCT
PY 2014
VL 44
IS 10
BP 2614
EP 2620
DI 10.1007/s10803-014-2124-8
PG 7
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800023
PM 24752681
ER
PT J
AU Wade, JL
Cox, NB
Reeve, RE
Hull, M
AF Wade, Jordan L.
Cox, Neill Broderick
Reeve, Ronald E.
Hull, Michael
TI Brief Report: Impact of Child Problem Behaviors and Parental Broad
Autism Phenotype Traits on Substance Use Among Parents of Children with
ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Parental substance use; Child externalizing behaviors; Broad autism
phenotype; BAPQ-Simons Simplex Collection
ID MULTIPLE-INCIDENCE; PSYCHIATRIC-DISORDERS; STRESS PROLIFERATION;
SPECTRUM DISORDERS; FAMILY-HISTORY; DEPRESSED MOOD; RISK-FACTORS;
PERSONALITY
AB Using data from the Simons Simplex Collection, the present study examined the impact of child externalizing behavior and parental broad autism phenotype traits on substance use among parents of children with autism spectrum disorder (n = 2,388). For both fathers and mothers, child externalizing behaviors predicted tobacco use (OR = 1.01 and OR = 1.02, respectively), whereas rigidity increased risk of tobacco use for fathers (OR = 1.29) but not mothers. Additionally, among mothers, child externalizing behaviors increased risk of illegal substance use (OR = 1.04), whereas maternal rigidity decreased risk of alcohol use (OR = .83). Collectively, results suggest that child externalizing behaviors and parental rigidity may have differing impacts on the types of substances used by parents.
C1 [Wade, Jordan L.; Cox, Neill Broderick; Reeve, Ronald E.] Univ Virginia, Curry Sch Educ, Charlottesville, VA 22904 USA.
[Wade, Jordan L.; Cox, Neill Broderick; Reeve, Ronald E.] Univ Virginia, Curry Sch Educ, Sch Psychol, Charlottesville, VA 22904 USA.
[Hull, Michael] Univ Virginia, Charlottesville, VA 22904 USA.
RP Wade, JL (reprint author), Univ Virginia, Curry Sch Educ, POB 400270, Charlottesville, VA 22904 USA.
EM jlh6xf@virginia.edu
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NR 33
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 OCT
PY 2014
VL 44
IS 10
BP 2621
EP 2627
DI 10.1007/s10803-014-2132-8
PG 7
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800024
PM 24805795
ER
PT J
AU Leung, RC
Zakzanis, KK
AF Leung, Rachel C.
Zakzanis, Konstantine K.
TI Brief Report: Cognitive Flexibility in Autism Spectrum Disorders: A
Quantitative Review
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Cognitive flexibility; Autism spectrum disorders; ASD; Set-shifting;
Meta-analysis
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; HIGH-FUNCTIONING AUTISM; CARD
SORTING TEST; EXECUTIVE FUNCTION DEFICITS; SELECTION TASK FIST;
ASPERGER-SYNDROME; SOCIAL COGNITION; COMPUTERIZED VERSION;
RESPONSE-INHIBITION; NORMAL-CHILDREN
AB Impairments in cognitive flexibility have been used to characterize the neuropsychological presentation of persons with autism spectrum disorders (ASDs). Previous studies have yielded mixed results. Our objective was to systematically review the sensitivity of cognitive flexibility measures in ASD using quantitative methods employed by meta-analytic statistical techniques. Seventy-two studies met inclusion criteria for analysis and included a total of 2,137 individuals with ASD and 2,185 healthy controls. Our findings demonstrate that while the shift sub-scale of the self-report version of the Behavioral Rating Inventory of Executive Function (BRIEF) showed approximate absolute discriminability, of all the performance measures that were systematically reviewed and evaluated, none could reliably differentiate between individuals with ASD and controls; this is not surprising given that cognitive flexibility is not a core deficit of ASD. Our findings suggest that while the shift sub-scale of the self-report version of the BRIEF is a promising clinical marker, clinical performance measures of cognitive flexibility may lack ecological validity and lastly, reinforces that impairments in cognitive flexibility do not uniformly characterize all persons with ASD.
C1 [Leung, Rachel C.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada.
[Leung, Rachel C.] Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON M5G 1X8, Canada.
[Zakzanis, Konstantine K.] Univ Toronto Scarborough, Dept Psychol, Toronto, ON, Canada.
RP Leung, RC (reprint author), Hosp Sick Children, Dept Diagnost Imaging, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM r.leung@mail.utoronto.ca
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NR 113
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 OCT
PY 2014
VL 44
IS 10
BP 2628
EP 2645
DI 10.1007/s10803-014-2136-4
PG 18
WC Psychology, Developmental
SC Psychology
GA AP6TX
UT WOS:000342211800025
PM 24862496
ER
PT J
AU Sasaki, AM
Fryling, MJ
AF Sasaki, Azusa M.
Fryling, Mitch J.
TI Cup Distance Fading to Decrease Inappropriate Behavior in a Child with
Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Antecedent; Drinking; Exposure; Fading; Liquid selectivity
ID FUNCTIONAL-ANALYSIS; MEALTIME BEHAVIOR; ESCAPE EXTINCTION; FOOD REFUSAL
AB The present study involves a replication and extension of previous research examining distance fading to decrease inappropriate mealtime behavior and increase liquid consumption from a cup. The presentation of a cup of water was associated with high levels of inappropriate behavior and low levels of consumption. A cup distance fading procedure was used to systematically expose the participant to a cup of water that initially resulted in high levels of inappropriate mealtime behavior and no consumption. Inappropriate mealtime behavior decreased and consumption increased during the distance fading intervention. Implications for future research and practice are provided.
C1 [Sasaki, Azusa M.] Chicago Sch Profess Psychol, Los Angeles, CA USA.
[Fryling, Mitch J.] Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
RP Fryling, MJ (reprint author), Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
EM mfrylin2@calstatela.edu
CR Bachmeyer Melanie H, 2009, Behav Anal Pract, V2, P43
Bachmeyer MH, 2009, J APPL BEHAV ANAL, V42, P641, DOI 10.1901/jaba.2009.42-641
Lerman DC, 1999, J APPL BEHAV ANAL, V32, P1, DOI 10.1901/jaba.1999.32-1
Najdowski AC, 2008, J APPL BEHAV ANAL, V41, P459, DOI 10.1901/jaba.2008.41-459
Patel MR, 2001, J APPL BEHAV ANAL, V34, P357, DOI 10.1901/jaba.2001.34-357
Piazza CC, 2003, J APPL BEHAV ANAL, V36, P187, DOI 10.1901/jaba.2003.36-187
Piazza CC, 2008, DEV DISABIL RES REV, V14, P174, DOI 10.1002/ddrr.22
Reed GK, 2004, J APPL BEHAV ANAL, V37, P27, DOI 10.1901/jaba.2004.37-27
Rivas KD, 2010, J APPL BEHAV ANAL, V43, P673, DOI 10.1901/jaba.2010.43-673
NR 9
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 507
EP 512
DI 10.1007/s10882-013-9355-z
PG 6
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000001
ER
PT J
AU Strasberger, SK
Ferreri, SJ
AF Strasberger, Sean K.
Ferreri, Summer J.
TI The Effects of Peer Assisted Communication Application Training on the
Communicative and Social Behaviors of Children with Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Speech-generative device; Peer-mediated intervention;
Augmentative and alternative communication
ID ALTERNATIVE COMMUNICATION; FUNCTIONAL COMMUNICATION;
DEVELOPMENTAL-DISABILITIES; SPECTRUM DISORDERS; SPEECH DEVELOPMENT;
LEAST PROMPTS; AGED CHILDREN; SYSTEM; STUDENTS; OUTPUT
AB Non-verbal children with autism are candidates for augmentative and alternative communication (AAC). Augmentative and Alternative Communication is defined as systems that either supplement or replace existing communication when speech impairments are present, such as the case with non-verbal children with autism (Mirenda, Language Speech and Hearing Services in Schools 34(3), 203-216, 2003). One type of AAC device is a speech-generating device (SGD). The primary drawbacks of past SGDs, which are portable electronic devices that produce digitized speech were their expense and portability. Newer iPod-based VOCAs alleviate these concerns. This study sought to evaluate an iPod-based SGD and a peer mediated intervention to teach children with autism more sophisticated communication skills. Using a multiple baseline design, four children with autism were taught through peer assisted communication application (PACA) training how to mand using a two-step sequence and respond to the questions, "What do you want?" and "What is your name?" using a two-step sequence. Data were taken on the number of independent mands and independent responses. Results indicated that three of the four participants were able to acquire communicative skills. The implications are analyzed in regards to the effectiveness of peer assisted communication application training to teach sophisticated communication skills.
C1 [Strasberger, Sean K.; Ferreri, Summer J.] Michigan State Univ, E Lansing, MI 48824 USA.
RP Strasberger, SK (reprint author), 5211 Madison Ave A7, Okemos, MI 48864 USA.
EM sean.strasberger@gmail.com
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Centers for Disease Control and Prevention, 2012, AUTISM SPECTRUM DISO
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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 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 513
EP 526
DI 10.1007/s10882-013-9358-9
PG 14
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000002
ER
PT J
AU Grosberg, D
Charlop, M
AF Grosberg, Denise
Charlop, Marjorie
TI Teaching Persistence in Social Initiation Bids to Children with Autism
Through a Portable Video Modeling Intervention (PVMI)
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; Social initiations; Technology; Video modeling
ID PERSPECTIVE-TAKING; SKILLS; SELF; REINFORCEMENT; TECHNOLOGY; BEHAVIORS;
SEQUENCES; SPEECH
AB Children with autism make and accept fewer social initiations and spend more time playing alone than with typical peers. Interventions that capitalize on technology have proven to be particularly successful in improving social initiation skills because they increase motivation, maintenance, and generalization of new social behaviors (Nikopoulos and Keenan 2004). In the present study, a portable video modeling intervention (PVMI) was used to teach persistence in social initiations to four children with autism. Two hypotheses were tested: 1) that children with autism would effectively learn persistence in social initiations to peers by using a PVMI and that this skill would 2) generalize and be maintained across people and settings. Results indicated that children with autism could learn persistence in social initiations through the PVMI. These behavior changes generalized across peers and settings and were maintained after a 1-month follow-up period. Results are discussed in terms of the effectiveness of interventions such as a PVMI as potential learning tools for children with autism.
C1 [Grosberg, Denise; Charlop, Marjorie] Claremont Mckenna Coll, Claremont, CA 91711 USA.
RP Charlop, M (reprint author), Claremont Mckenna Coll, Claremont, CA 91711 USA.
EM mcharlop@cmc.edu
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NR 37
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 527
EP 541
DI 10.1007/s10882-013-9362-0
PG 15
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000003
ER
PT J
AU Pochon, R
Declercq, C
AF Pochon, Regis
Declercq, Christelle
TI Emotional Lexicon Understanding and Emotion Recognition: A Longitudinal
Study in Children with Down Syndrome
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Down syndrome; Intellectual disability; Emotion recognition; Emotional
lexicon; Emotional competence
ID FRAGILE-X-SYNDROME; FACIAL EXPRESSIONS; MENTAL-RETARDATION;
YOUNG-CHILDREN; PERCEPTION; LANGUAGE; AUTISM; ADOLESCENTS; PEOPLE; WORDS
AB Several studies have shown deficits in emotion recognition in children with Down syndrome (DS). However, most of these studies required the understanding of verbal labels of emotion in their instructions, which may have been a disadvantage for these children, given their common language difficulties. This study addressed this issue by investigating the abilities of children with DS to recognize emotion from emotional terms, using the same visual material as in a previous nonverbal study with which they had no difficulty. Their performance was compared to that of typically developing children (TD) and children with nonspecific intellectual disability (NSID) of the same developmental age, during a 3-year longitudinal follow-up. Results showed that the abilities of children with DS were significantly poorer and developed slower than those of TD children, but not children with NSID. These cross-sectional and longitudinal data tend to show that children with DS have a lack of understanding of emotional verbal labels. The implications of these findings for future emotion recognition studies in these children, notably the need to design nonverbal experiments using dynamic stimuli, are discussed. The consequences of a potential deficit affecting the emotional lexicon are also raised with a view to orienting therapeutic and educational support.
C1 [Pochon, Regis; Declercq, Christelle] Univ Reims, Lab C2S Cognit Sante Socialisat, EA 6291, F-51096 Reims, France.
RP Pochon, R (reprint author), Univ Reims, Lab C2S Cognit Sante Socialisat, EA 6291, 57 Rue Pierre Taittinger, F-51096 Reims, France.
EM regis.pochon@univ-reims.fr
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NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 549
EP 563
DI 10.1007/s10882-014-9380-6
PG 15
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000005
ER
PT J
AU Achmadi, D
Sigafoos, J
van der Meer, L
Sutherland, D
Lancioni, GE
O'Reilly, MF
Hodis, F
Green, VA
McLay, L
Marschik, PB
AF Achmadi, Donna
Sigafoos, Jeff
van der Meer, Larah
Sutherland, Dean
Lancioni, Giulio E.
O'Reilly, Mark F.
Hodis, Flaviu
Green, Vanessa A.
McLay, Laurie
Marschik, Peter B.
TI Acquisition, Preference, and Follow-up Data on the Use of Three AAC
Options by Four Boys with Developmental Disability/Delay
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Augmentative and alternative communication; Developmental delay;
Acquisition; Preference; Maintenance; Manual signing; Picture exchange;
Speech-generating device
ID SPEECH-GENERATING DEVICES; AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE;
COMMUNICATION INTERVENTIONS; PICTURE EXCHANGE; ALTERNATIVE
COMMUNICATION; SELF-DETERMINATION; MANUAL SIGNS; CHILDREN; DISABILITIES
AB We compared how quickly four boys with developmental disability/delay learned to use manual signing (MS), picture exchange (PE), and a speech-generating device (SGD) to request the continuation of toy play. Opportunities to choose to use MS, PE, and SGD were included to determine if the boys showed a preference for using one of these options. Follow-up sessions occurred at 12, 15, and 18 months post-intervention. With intervention, three of the four participants learned to use each option, but one child only learned to use PE. Trials to criterion across children ranged from 22 to 28 for the SGD, from 12 to 60 for PE, and from 21 to 64 trials for MS. For the three participants who reached criterion with each AAC system, maintenance results were best for PE and SGD. Preference assessments during follow-up showed that participants most often chose the SGD, indicating a preference for that option. The findings suggest there may be value in assessing a child's preference for different AAC options as part of the post-intervention follow-up process.
C1 [Achmadi, Donna; Sigafoos, Jeff; van der Meer, Larah; Hodis, Flaviu; Green, Vanessa A.] Victoria Univ Wellington, Sch Educ Psychol, Wellington 6147, New Zealand.
[Sutherland, Dean; McLay, Laurie] Univ Canterbury, Sch Hlth Sci, Coll Educ, Christchurch 1, New Zealand.
[Lancioni, Giulio E.] Univ Bari, Dept Neurosci & Sense Organs, Bari, Italy.
[O'Reilly, Mark F.] Univ Texas Austin, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA.
[Marschik, Peter B.] Med Univ Graz, Inst Physiol, Graz, Austria.
RP Sigafoos, J (reprint author), Victoria Univ Wellington, Sch Educ Psychol, POB 17-310, Wellington 6147, New Zealand.
EM jeff.sigafoos@vuw.ac.nz
CR Blischak D.M., 1997, AUGMENTATIVE ALTERNA, P38
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NR 46
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 565
EP 583
DI 10.1007/s10882-014-9379-z
PG 19
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000006
ER
PT J
AU Dixon, MR
Carman, J
Tyler, PA
Whiting, SW
Enoch, MR
Daar, JH
AF Dixon, Mark R.
Carman, Josie
Tyler, Pamela A.
Whiting, Seth W.
Enoch, Mary Rachel
Daar, Jacob H.
TI PEAK Relational Training System for Children with Autism and
Developmental Disabilities: Correlations with Peabody Picture Vocabulary
Test and Assessment Reliability
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE ABA therapy; Discrete trial training; Verbal behavior therapy; Language
training
AB The present investigation sought to explore initial psychometric properties of the PEAK Relational Training System-Module 1: Direct Training for children with autism. Thirteen children diagnosed with autism or related disorders were exposed to an initial assessment designed to evaluate skill deficits within their repertoire, the Peabody Picture Vocabulary Test, and the Illinois Early Learning Standards Test. Additionally, staff performances were evaluated on reliability of delivery of the PEAK assessment. Results yielded significant positive correlations among the obtained PEAK assessment scores, the Peabody and the Standards assessments. Implications for evidence-based discrete trial training curricula are discussed.
C1 [Dixon, Mark R.; Carman, Josie; Whiting, Seth W.; Enoch, Mary Rachel; Daar, Jacob H.] So Illinois Univ, Carbondale, IL 62901 USA.
[Carman, Josie; Tyler, Pamela A.] Highland Community Unit Sch Dist 5, Highland, IL USA.
[Dixon, Mark R.] So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
RP Dixon, MR (reprint author), So Illinois Univ, Inst Rehabil, Behav Anal & Therapy Program, Carbondale, IL 62901 USA.
EM mdixon@siu.edu
CR Anderson S. R., 1987, ED TREATMENT CHILDRE, V10, P352
Autism Speaks Inc., 2013, APPL BEH AN ABA
Dixon M. R., 2014, PEAK RELATIONAL TRAI
Dunn L. M., 2007, PEABODY PICTURE VOCA
GARCIA E, 1971, J APPL BEHAV ANAL, V4, P101, DOI 10.1901/jaba.1971.4-101
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Hayes S. C., 2001, RELATIONAL FRAME THE
Illinois State Board of Education, 2013, ILL EARL LEARN DEV S
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YAMAMOTO J, 1988, J APPL BEHAV ANAL, V21, P57, DOI 10.1901/jaba.1988.21-57
NR 17
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 603
EP 614
DI 10.1007/s10882-014-9384-2
PG 12
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000008
ER
PT J
AU Tzanakaki, P
Hastings, RP
Grindle, CF
Hughes, JC
Hoare, Z
AF Tzanakaki, Pagona
Hastings, Richard P.
Grindle, Corinna F.
Hughes, J. Carl
Hoare, Zoe
TI An Individualized Numeracy Curriculum for Children with Intellectual
Disabilities: A Single Blind Pilot Randomized Controlled Trial
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Intellectual disabilities; Mathematics; Numeracy curriculum
ID LEARNING-DISABILITIES; TEACHING MATHEMATICS; SCHOOL-STUDENTS;
METAANALYSIS; INSTRUCTION; PROGRAM; SKILLS
AB Research investigating structured, comprehensive numeracy curricula appropriate for children with Intellectual Disabilities (ID) is limited. We conducted a pilot study focused on an adaptation of the Maths Recovery program. Twenty four elementary school children with severe ID or autism were randomly allocated into the intervention and control groups. For 12 weeks, children in the intervention group received individualized numeracy teaching based on the adapted Maths Recovery curriculum, whereas children in the control group received "mathematics as usual" teaching. Pre- and post- intervention tests on standardized numeracy measures were conducted. Children were successfully recruited into the study, parents were willing for their child to be randomised to one of the arms of the study, and the vast majority of children were retained to follow-up. Analysis of data from outcome measures indicated that the Maths Recovery group made improvements at post-intervention in comparison to the control group. A follow-up test showed that gains were maintained 7 months after the end of the intervention. These pilot results support the case for a definitive research trial of the adapted Maths Recovery intervention.
C1 [Tzanakaki, Pagona; Grindle, Corinna F.; Hughes, J. Carl] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales.
[Hastings, Richard P.] Univ Warwick, Ctr Educ Dev Appraisal & Res, Coventry CV4 7AL, W Midlands, England.
[Hoare, Zoe] North Wales Org Randomised Trials Hlth & Social C, Bangor, Gwynedd, Wales.
RP Tzanakaki, P (reprint author), Bangor Univ, Sch Psychol, Brigantia Bldg,Penrallt Rd, Bangor LL57 2AS, Gwynedd, Wales.
EM pagonatzanakaki@hotmail.com
RI Hastings, Richard/D-9657-2013
OI Hastings, Richard/0000-0002-0495-8270
CR Arain M, 2010, BMC MED RES METHODOL, V10, DOI 10.1186/1471-2288-10-67
Ayres KM, 2011, EDUC TRAIN AUTISM DE, V46, P11
Browder DM, 2008, EXCEPT CHILDREN, V74, P407
Bullock J., 1989, TOUCH MATH INSTRUCTI
Butler FM, 2001, MENT RETARD, V39, P20, DOI 10.1352/0047-6765(2001)039<0020:TMTSWM>2.0.CO;2
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Clarke B, 2008, REM SPEC EDUC, V29, P46, DOI 10.1177/0741932507309694
Fletcher D, 2010, EDUC TRAIN AUTISM DE, V45, P449
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Ginsburg H. P., 2003, TEMA 3 TEST EARL MAT
Jackobson N. S., 1991, J CONSULT CLIN PSYCH, V59, P12
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Patton JR, 1997, J LEARN DISABIL, V30, P178
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Scott K. S., 1993, EXCEPTIONALITY, V42, P97
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Thabane L, 2010, BMC MED RES METHODOL, V10, DOI 10.1186/1471-2288-10-1
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Waters HE, 2011, EDUC TRAIN AUTISM DE, V46, P544
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Wright R. J., 2006, TEACHING NUMBER ADV
Wright R. J., 2003, AUSTR J LEARNING DIS, V8, P6, DOI 10.1080/19404150309546741
NR 27
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1056-263X
EI 1573-3580
J9 J DEV PHYS DISABIL
JI J. Dev. Phys. Disabil.
PD OCT
PY 2014
VL 26
IS 5
BP 615
EP 632
DI 10.1007/s10882-014-9387-z
PG 18
WC Rehabilitation
SC Rehabilitation
GA AP1WY
UT WOS:000341864000009
ER
PT J
AU Asadollahi, R
Oneda, B
Joset, P
Azzarello-Burri, S
Bartholdi, D
Steindl, K
Vincent, M
Cobilanschi, J
Sticht, H
Baldinger, R
Reissmann, R
Sudholt, I
Thiel, CT
Ekici, AB
Reis, A
Bijlsma, EK
Andrieux, J
Dieux, A
FitzPatrick, D
Ritter, S
Baumer, A
Latal, B
Plecko, B
Jenni, OG
Rauch, A
AF Asadollahi, Reza
Oneda, Beatrice
Joset, Pascal
Azzarello-Burri, Silvia
Bartholdi, Deborah
Steindl, Katharina
Vincent, Marie
Cobilanschi, Joana
Sticht, Heinrich
Baldinger, Rosa
Reissmann, Regina
Sudholt, Irene
Thiel, Christian T.
Ekici, Arif B.
Reis, Andre
Bijlsma, Emilia K.
Andrieux, Joris
Dieux, Anne
FitzPatrick, David
Ritter, Susanne
Baumer, Alessandra
Latal, Beatrice
Plecko, Barbara
Jenni, Oskar G.
Rauch, Anita
TI The clinical significance of small copy number variants in
neurodevelopmental disorders
SO JOURNAL OF MEDICAL GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DU-CHAT SYNDROME; DE-NOVO; INTELLECTUAL
DISABILITY; DEVELOPMENTAL DELAY; DELTA-CATENIN; CLEFT-PALATE; ARRAY CGH;
INTRAGENIC DELETIONS; MENTAL-RETARDATION
AB Background Despite abundant evidence for pathogenicity of large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs < 500 kb has not been well elucidated in a clinical context.
Methods By high-resolution chromosomal microarray analysis, we investigated the clinical significance of all rare non-polymorphic exonic CNVs sizing 1-500 kb in a cohort of 714 patients with undiagnosed NDDs.
Results We detected 96 rare CNVs < 500 kb affecting coding regions, of which 58 (60.4%) were confirmed. 6 of 14 confirmed de novo, one of two homozygous and four heterozygous inherited CNVs affected the known microdeletion regions 17q21.31, 16p11.2 and 2p21 or OMIM morbid genes (CASK, CREBBP, PAFAH1B1, SATB2; AUTS2, NRXN3, GRM8). Two further de novo CNVs affecting single genes (MED13L, CTNND2) were instrumental in delineating novel recurrent conditions. For the first time, we here report exonic deletions of CTNND2 causing low normal IQ with learning difficulties with or without autism spectrum disorder. Additionally, we discovered a homozygous out-of-frame deletion of ACOT7 associated with features comparable to the published mouse model. In total, 24.1% of the confirmed small CNVs were categorised as pathogenic or likely pathogenic (median size 130 kb), 17.2% as likely benign, 3.4% represented incidental findings and 55.2% remained unclear.
Conclusions These results verify the diagnostic relevance of genome-wide rare CNVs < 500 kb, which were found pathogenic in similar to 2% (14/714) of cases (1.1% de novo, 0.3% homozygous, 0.6% inherited) and highlight their inherent potential for discovery of new conditions.
C1 [Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Baumer, Alessandra; Rauch, Anita] Univ Zurich, Inst Med Genet, CH-8952 Schlieren, Switzerland.
[Sticht, Heinrich] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany.
[Thiel, Christian T.; Ekici, Arif B.; Reis, Andre] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany.
[Bijlsma, Emilia K.] Leiden Univ Med Ctr LUMC, Dept Clin Genet, Leiden, Netherlands.
[Andrieux, Joris] CHRU Lille, Hop Jeanne de Flandre, Inst Genet Med, F-59037 Lille, France.
[Dieux, Anne] CHRU Lille, Hop Jeanne de Flandre, Clin Genet Guy Fontaine, F-59037 Lille, France.
[FitzPatrick, David] Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland.
[Ritter, Susanne; Latal, Beatrice; Jenni, Oskar G.] Univ Childrens Hosp Zurich, Child Dev Ctr, Zurich, Switzerland.
[Plecko, Barbara] Univ Childrens Hosp Zurich, Div Child Neurol, Zurich, Switzerland.
RP Rauch, A (reprint author), Univ Zurich, Inst Med Genet, Wagistr 12, CH-8952 Schlieren, Switzerland.
EM anita.rauch@medgen.uzh.ch
RI Reis, Andre/D-2309-2009; Rauch, Anita/C-5568-2014; Thiel,
Christian/H-8964-2012
OI Reis, Andre/0000-0002-6301-6363; Rauch, Anita/0000-0003-2930-3163;
Thiel, Christian/0000-0003-3817-7277
FU Swiss National Science Foundation [SNF 320030_135669]; Forschungskredit
of the University of Zurich [54220201]; radiz-Rare Disease Initiative
Zurich, clinical research priority program, University of Zurich
FX We sincerely thank the affected individuals and their families for
participation and the DECIPHER Consortium for their collaboration. This
research was supported by grants from the Swiss National Science
Foundation (SNF 320030_135669), Forschungskredit of the University of
Zurich (grant number 54220201) and radiz-Rare Disease Initiative Zurich,
clinical research priority program, University of Zurich.
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NR 60
TC 2
Z9 2
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 OCT
PY 2014
VL 51
IS 10
BP 677
EP 688
DI 10.1136/jmedgenet-2014-102588
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AP5PS
UT WOS:000342131700006
PM 25106414
ER
PT J
AU Hinkka-Yli-Salomaki, S
Banerjee, PN
Gissler, M
Lampi, KM
Vanhala, R
Brown, AS
Sourander, A
AF Hinkka-Yli-Salomaki, Susanna
Banerjee, P. Nina
Gissler, Mika
Lampi, Katja M.
Vanhala, Raija
Brown, Alan S.
Sourander, Andre
TI The incidence of diagnosed autism spectrum disorders in Finland
SO NORDIC JOURNAL OF PSYCHIATRY
LA English
DT Article
DE Autism; Autism spectrum disorders; Epidemiology; Incidence; Register
study
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; OLMSTED COUNTY;
TIME TRENDS; PREVALENCE; CHILDREN; UK; EPIDEMIOLOGY; MINNESOTA; REGISTRY
AB Background: Previous reports indicate an increase in incidence of autism spectrum disorders (ASD). Aims: First, to assess the incidence of diagnosed ASD in children born between 1996 and 1998, based on nationwide inpatient and outpatient register information. Second, to investigate the incidence rate over time of diagnosed ASD and specifically childhood autism, Asperger's syndrome and pervasive developmental disorder (PDD-NOS) in children born between 1987 and 1998. Methods: This is population-based cohort study with children born in Finland between 1 January 1987 and 31 December 2005; a total of more than 1.2 million children. Children were identified in the Finnish Hospital Discharge Register, and the reported diagnoses were based on the International Statistical Classification of Diseases (ICD-10, ICD-9). Results: The annual incidence rate of diagnosed ASD based on inpatient and outpatient register data was 53.7 per 10,000 (95% CI 50.4-57.2). Incidence was 82.6 per 10,000 in boys and 23.6 per 10,000 in girls, yielding a sex ratio (boys: girls) of 3.5: 1. We report an eightfold increase in the incidence rates in children of diagnosed ASD and specifically in childhood autism, Asperger's syndrome and PDD-NOS and born between 1987 and 1992 based on inpatient register information. Conclusions: Increased awareness of ASD, more precise diagnostic criteria and changes in practice for diagnosing autism may have had a substantial effect on the increased incidence of inpatient treated ASD cases from 1987 to 1992. Between 1992 and 1998, the incidence rate based on inpatient and outpatient service use remained rather stable.
C1 [Hinkka-Yli-Salomaki, Susanna; Gissler, Mika; Lampi, Katja M.; Brown, Alan S.; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Banerjee, P. Nina; Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Gissler, Mika] Natl Inst Hlth & Welf, Dept Informat, Helsinki, Finland.
[Gissler, Mika] Nord Sch Publ Hlth, Gothenburg, Sweden.
[Vanhala, Raija] Helsinki Univ Cent Hosp, Dept Child Neurol, Helsinki, Finland.
[Sourander, Andre] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
RP Sourander, A (reprint author), Univ Turku, Dept Child Psychiat, Itainen Pitkakatu 1 Varia, Turku 20014, Finland.
EM andre.sourander@utu.fi
FU Autism Speaks, USA; National Institute of Mental Health, USA
[1K02-MH65422]; National Institute of Environmental Health Sciences, USA
[1R01ES019004]
FX This study was supported by Autism Speaks, USA, by National Institute of
Mental Health, USA, grant 1K02-MH65422, and by National Institute of
Environmental Health Sciences, USA, grant 1R01ES019004.
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NR 47
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0803-9488
EI 1502-4725
J9 NORD J PSYCHIAT
JI Nord. J. Psychiatr.
PD OCT
PY 2014
VL 68
IS 7
BP 472
EP 480
DI 10.3109/08039488.2013.861017
PG 9
WC Psychiatry
SC Psychiatry
GA AP6SE
UT WOS:000342207100006
PM 24359461
ER
PT J
AU Stasolla, F
De Pace, C
Damiani, R
Di Leone, A
Albano, V
Perilli, V
AF Stasolla, Fabrizio
De Pace, Claudia
Damiani, Rita
Di Leone, Antonia
Albano, Vincenza
Perilli, Viviana
TI Comparing PECS and VOCA to promote communication opportunities and to
reduce stereotyped behaviors by three girls with Rett syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Rett syndrome; Augmentative and alternative communication; Developmental
disabilities; Indices of happiness; Quality of life; Stereotypies
ID PROFOUND MULTIPLE DISABILITIES; MICROSWITCH-BASED PROGRAMS; AUTISM
SPECTRUM DISORDERS; QUALITY-OF-LIFE; DEVELOPMENTAL-DISABILITIES;
ENVIRONMENTAL STIMULI; MOTOR DISABILITIES; KEYBOARD EMULATOR; SOCIAL
CONTACT; 2 BOYS
AB We compared PECS and VOCA intervention strategies to promote communication opportunities for three girls with Rett syndrome and severe to profound developmental disabilities. The first aim of the study was to assess the effectiveness of both aforementioned strategies by enhancing request and choices of preferred items by the participants involved to a caregiver. The second goal of the study was to assess the effects of the intervention program by reducing stereotyped behaviors (i.e. body rocking and hand movements). Finally, the third purpose was to carry out the indices of happiness and monitor quality of life concerning the participants exposed to the intervention program. The study was carried out according to an alternating treatments design with a final preference check phase for each participant. Results showed an increasing of independent requested and chosen items as well as of indices of happiness during intervention phases for all participants. Moreover, two of them chose VOCA strategy during preference checks phase, while the third one equally chose both strategies. Furthermore, a decreasing of stereotypies was observed during intervention phases for the three participants. Clinical, educational and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stasolla, Fabrizio] Lega Filo Oro, Res Ctr, Molfetta, Italy.
[De Pace, Claudia; Damiani, Rita; Di Leone, Antonia; Albano, Vincenza] Univ Bari, Dept Educ Sci, I-70121 Bari, Italy.
[Perilli, Viviana] Lega Filo Oro, Res Ctr, Lesmo, Italy.
RP Stasolla, F (reprint author), Lega Filo Oro, Res Ctr, Molfetta, Italy.
EM f.stasolla@libero.it
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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 OCT
PY 2014
VL 8
IS 10
BP 1269
EP 1278
DI 10.1016/j.rasd.2014.06.009
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100002
ER
PT J
AU Lang, R
van der Werff, M
Verbeek, K
Didden, R
Davenport, K
Moore, M
Lee, A
Rispoli, M
Machalicek, W
O'Reilly, M
Sigafoos, J
Lancioni, G
AF Lang, Russell
van der Werff, Marije
Verbeek, Katja
Didden, Robert
Davenport, Katy
Moore, Melissa
Lee, Allyson
Rispoli, Mandy
Machalicek, Wendy
O'Reilly, Mark
Sigafoos, Jeff
Lancioni, Giulio
TI Comparison of high and low preferred topographies of contingent
attention during discrete trial training
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Preference assessment; Attention; Discrete trial training
ID AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE; DESCRIPTIVE ANALYSIS;
PROBLEM BEHAVIOR; PREFERENCE; DISABILITIES; REINFORCERS; VALIDITY
AB We used the paired-stimulus (PS) and multiple-stimulus without replacement (MSWO) preference assessment procedures to identify high and low preferred topographies of attention for two children with autism spectrum disorders (ASD). Both preference assessment formats identified the same high and low preferred forms of attention. A reinforcer assessment implemented during discrete trial training demonstrated increased correct responding and reduced challenging behavior when the high preferred form of attention was the contingent reinforcer for both participants. These results replicate previous research demonstrating that children with ASD may have preferences for specific forms of social interaction and that highly preferred forms of attention may function as more potent reinforcers than less preferred forms. This study extends previous research by demonstrating correspondence between the MSWO and PS formats when applied to attention. Implications for practitioners and directions for future research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Lang, Russell] Texas State Univ, Round Rock, TX USA.
[van der Werff, Marije; Verbeek, Katja; Didden, Robert] Radboud Univ Nijmegen, NL-6525 ED Nijmegen, Netherlands.
[Davenport, Katy; Moore, Melissa; Lee, Allyson] Texas State Univ, Clin Autism Res Evaluat & Support, Round Rock, TX 78665 USA.
[Rispoli, Mandy] Texas A&M Univ, College Stn, TX USA.
[Machalicek, Wendy] Univ Oregon, Eugene, OR 97403 USA.
[O'Reilly, Mark] Univ Texas Austin, Austin, TX 78712 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
[Lancioni, Giulio] Univ Bari, I-70121 Bari, Italy.
RP Lang, R (reprint author), Texas State Univ San Marcos, Dept Curriculum & Instruct, 601 Univ Dr, San Marcos, TX 78666 USA.
EM russlang@txstate.edu
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NR 23
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1279
EP 1286
DI 10.1016/j.rasd.2014.06.012
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100003
ER
PT J
AU Cervantes, PE
Matson, JL
Adams, HL
Konst, MJ
AF Cervantes, Paige E.
Matson, Johnny L.
Adams, Hilary L.
Konst, Matthew J.
TI The relationship between cognitive development and conduct problems in
young children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; Conduct; Tantrums; BISCUIT; BDI-2; Cognitive
ID II DASH-II; SIDE-EFFECTS MEDS; INTELLECTUAL DISABILITY;
DIAGNOSTIC-ASSESSMENT; CHALLENGING BEHAVIORS; MENTAL-RETARDATION; MATSON
EVALUATION; FEEDING PROBLEMS; INFANT SCREEN; PDD-NOS
AB Individuals with ASD often demonstrate elevated rates of challenging behaviors, such as tantrums, aggression, and property destruction. The current study examined the relationship between cognitive abilities and conduct problem behaviors in 263 children aged 18 to 39 months. Cognitive development was measured utilizing the cognitive developmental quotient (DQ) on the Battelle Developmental Inventory, Second Edition (BDI-2). Participants were separated into two groups: (1) low cognitive DQgroup (cognitive DQ less than or equal to 70), and (2) typical cognitive DQgroup (cognitive DQgreater than 70). Conduct problems were assessed using the Tantrum/Conduct Behavior subscale of the Baby and Infant Screen for Children with aUtIsm Traits, Part 2 (BISCUIT-Part 2). Higher rates of overall conduct problem behaviors were observed in young children with ASD and typical cognitive development relative to children with low cognitive development. Comparisons of specific conduct behaviors indicated cognitive ability may be associated with particular presentations of conduct problems. Implications are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Cervantes, Paige E.; Matson, Johnny L.; Adams, Hilary L.; Konst, Matthew J.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Cervantes, PE (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM pcerva2@lsu.edu
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NR 62
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 OCT
PY 2014
VL 8
IS 10
BP 1287
EP 1294
DI 10.1016/j.rasd.2014.06.015
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100004
ER
PT J
AU Ozturk, Y
Riccadonna, S
Venuti, P
AF Ozturk, Yagmur
Riccadonna, Samantha
Venuti, Paola
TI Parenting dimensions in mothers and fathers of children with Autism
Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder (ASD); Mothers and fathers; Parental stress;
Parental attitude; Parental mental health
ID PRESCHOOL-CHILDREN; YOUNG-CHILDREN; DOWN-SYNDROME; ACADEMIC-ACHIEVEMENT;
BEHAVIOR PROBLEMS; STRESS; PERCEPTIONS; COMPETENCE; IMPACT; MODEL
AB Rearing a child with Autism Spectrum Disorder (ASD) is a unique challenge for both parents. Previous studies addressed how mothers are affected by the challenges of raising a child with ASD, mostly in terms of stress pattern. In this study, we focused on comparisons between mothers and fathers of children with ASD in parental stress, attitude and mental health. We examined 99 parents of children with ASD using the Parenting Stress Index-Short Form, the Parental Style Questionnaire, the Self-Perceptions of the Parental Role and the Symptom Checklist-90-Revised. The results revealed the gender differences in the parental attitude and mental health. Mothers reported that they engaged in more social behaviors with their children than fathers. In addition mothers reported higher level of depression than fathers. No difference among parents emerged in the Parenting Stress Index-Short Form. The results of a multiple regression analysis revealed that parenting distress is associated with depression, balance of parents' diverse roles in their life and dysfunctional interaction between parents and children. These findings highlight both similarities and differences between mothers and fathers of children with ASD and the existence of a relationship between parental stress, mental health and attitude. Results suggest the importance of developing specific intervention programs which incorporate these fundamental parenting domains. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Ozturk, Yagmur; Venuti, Paola] Univ Trento, Dept Psychol & Cognit Sci, I-38086 Rovereto, Italy.
[Riccadonna, Samantha] FEM, Res & Innovat Ctr, Dept Computat Biol, San Michele All Adige, Italy.
RP Ozturk, Y (reprint author), Univ Trento, Dept Psychol & Cognit Sci, Via Matteo del Ben 5B, I-38086 Rovereto, Italy.
EM yagmur.ozturk@unitn.it
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NR 61
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 OCT
PY 2014
VL 8
IS 10
BP 1295
EP 1306
DI 10.1016/j.rasd.2014.07.001
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100005
ER
PT J
AU Rieske, RD
Matson, JL
Beighley, JS
Williams, LW
Turygin, N
AF Rieske, Robert D.
Matson, Johnny L.
Beighley, Jennifer S.
Williams, Lindsey W.
Turygin, Nicole
TI Personal-social development differences in toddlers diagnosed with
autism spectrum disorder: DSM-IV-TR versus DSM-5
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; DSM-5; Personal social; Toddlers; Social skills
ID PROFOUND MENTAL-RETARDATION; ASPERGERS SYNDROME; CHILDREN; SKILLS;
BEHAVIORS; CRITERIA; INFANTS; ADULTS; PSYCHOPATHOLOGY; OUTCOMES
AB Recent changes in diagnostic criteria for autism spectrum disorders (ASD) has stimulated research comparing the differences between those who would no longer meet the criteria for an ASD and those who would according to DSM-5. Previously, researchers have shown that individuals who no longer meet the criteria still have severe deficits in several areas when compared to atypically developing controls. These challenges are often similar in severity when compared to those who retain their diagnosis. The current study sought to compare these groups on a measure of personal and social development using the Battelle Developmental Inventory, second edition (BDI-2). Results were similar to previous research showing that those in the DSM-5 group had the most severe impairments followed by the DSM-IV group and then atypically-developing peers. The participants who no longer met the new criteria (DSM-IV group) were significantly different from both comparison groups but more closely resembled the DSM-5 group. They exhibited severe deficits in areas of personal-social development. These findings support the idea that these individuals do have significant impairments similar to those who would retain their diagnosis and that treatments developed for those with ASD would be beneficial; however, with the new criteria these children may never receive these services. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rieske, Robert D.; Matson, Johnny L.; Beighley, Jennifer S.; Williams, Lindsey W.; Turygin, Nicole] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Rieske, RD (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA.
EM rrieske@hotmail.com
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NR 50
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 OCT
PY 2014
VL 8
IS 10
BP 1307
EP 1315
DI 10.1016/j.rasd.2014.07.007
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100006
ER
PT J
AU Kuhlthau, K
Payakachat, N
Delahaye, J
Hurson, J
Pyne, JM
Kovacs, E
Tilford, JM
AF Kuhlthau, Karen
Payakachat, Nalin
Delahaye, Jennifer
Hurson, Jill
Pyne, Jeffrey M.
Kovacs, Erica
Tilford, J. Mick
TI Quality of life for parents of children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Health-related quality of life; Parent; Parent well-being; Depression
ID HEALTH-CARE NEEDS; PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME;
NATIONAL-SURVEY; MEDICAL HOME; MOTHERS; EQ-5D; STRESS; FAMILY; STATES
AB This project describes health-related quality of life (HRQoL) of parents of children with autism spectrum disorders (ASDs) using mixed methods. Parents of children with ASDs (N = 224) reported on their HRQoL, depression, and caregiving burden using quantitative tools. HRQoL scores were slightly worse than from those in normative populations especially related to stress and mental health. For example, parents reported average HRQoL scores from SF-6D of 0.74, which was clinically significant lower than an average normative U.S. population. 40% of parents reported having clinical depression symptoms. Married parents reported lower depression symptoms than parents who were not. In addition, families with three or more children with special health care needs (CSHCN) reported lower HRQL and higher caregiving burden than families with less CSHCN. In the qualitative study, we conducted five focus groups to gain insight as to the reasons a child's ASD might influence a parent's HRQoL. Qualitative data further supports the notion that parental HRQoL was negatively influenced by their child's ASDs. Studies that seek to quantify the influence of ASDs and to assess the effect of interventions for children with ASDs may consider measuring the effects on family members as well. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kuhlthau, Karen; Delahaye, Jennifer; Hurson, Jill] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, Boston, MA 02114 USA.
[Kuhlthau, Karen] Harvard Univ, Dept Pediat, Sch Med, Cambridge, MA 02138 USA.
[Payakachat, Nalin] Univ Arkansas Med Sci, Div Pharmaceut Evaluat & Policy, Coll Pharm, Little Rock, AR 72205 USA.
[Pyne, Jeffrey M.] Cent Arkansas Vet Healthcare Syst, Ctr Mental Hlth Outcomes Res, North Little Rock, AR 72114 USA.
[Kovacs, Erica] Div Child & Adolescent Psychiat, Columbia Dev Neuropsychiat Program, New York, NY 10019 USA.
[Tilford, J. Mick] Univ Arkansas Med Sci, Coll Publ Hlth 2226, Little Rock, AR 72205 USA.
RP Kuhlthau, K (reprint author), Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Policy, 100 Cambridge St,15th Floor, Boston, MA 02114 USA.
EM kkuhlthau@mgh.harvard.edu
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NR 64
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 OCT
PY 2014
VL 8
IS 10
BP 1339
EP 1350
DI 10.1016/j.rasd.2014.07.002
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100009
ER
PT J
AU Harper-Hill, K
Copland, D
Arnott, W
AF Harper-Hill, Keely
Copland, David
Arnott, Wendy
TI Pathways to meaning: Written and spoken word priming in children with
ASD versus typically developing peers
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Semantics; Lexical access; Modality; Visual
support
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; LEXICAL DECISION
TASK; DEVELOPING READERS; YOUNG-CHILDREN; ACCESS; MODALITY;
FACILITATION; RECOGNITION; INTEGRATION
AB Visual supports are widely utilized with children on the autism spectrum, however, the effect of visual versus auditory modality on language comprehension has not been directly investigated. To address this issue, we utilized a semantic priming paradigm in two experiments with 18 children with ASD and no language impairment and 14 children with typical development. In the first, cross-modal experiment with a spoken word prime, no priming effect was identified. In the second, uni-modal written word prime experiment, a three-way interaction was identified. Subsequent analysis revealed that priming occurred only in the younger participants with ASD. These results are discussed in terms of the cross- and uni-modal demands of the two experiments and in light of lexical processing of spoken and written words within a developmental framework. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Harper-Hill, Keely; Copland, David] Univ Queensland, Clin Res Ctr, Brisbane, Qld 4029, Australia.
[Harper-Hill, Keely; Copland, David; Arnott, Wendy] Univ Queensland, Sch Hlth & Rehabil, Brisbane, Qld 4072, Australia.
RP Harper-Hill, K (reprint author), Univ Queensland, Clin Res Ctr, Level 3,Bldg 71-918 RBWH Campus, Brisbane, Qld 4029, Australia.
EM keely.harperhill@qut.edu.au; d.copland@uq.edu.au; w.arnott@uq.edu.au
RI Copland, David/F-1409-2010
OI Copland, David/0000-0002-2257-4270
CR Australian Bureau of Statistics, 2006, 2033 0 55 001 CENSUS
Australian Bureau of Statistics, 2008, 2033 0 55 001 CENSUS
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NR 68
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 OCT
PY 2014
VL 8
IS 10
BP 1351
EP 1363
DI 10.1016/j.rasd.2014.07.004
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100010
ER
PT J
AU Su, Y
Jin, Y
Wan, GB
Zhang, JS
Su, LY
AF Su, Yi (Esther)
Jin, Yu
Wan, Guo-Bin
Zhang, Ji-Shui
Su, Lin-Yan
TI Interpretation of wh-words in Mandarin-speaking high-functioning
children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Language acquisition; Wh-words; Prosody;
Semantics; Mandarin Chinese
ID ASPERGER-SYNDROME; LANGUAGE-ACQUISITION; DOWNWARD ENTAILMENT;
YOUNG-CHILDREN; PROSODY; CHINESE; QUESTIONS; AMBIGUITY; COMPREHENSION;
ADOLESCENTS
AB Mandarin wh-words shenme 'what' and shei 'who' can convey both question readings and statement readings, a distinction of which is subject to intonation cues (rising intonation vs. level intonation) in ambiguous sentences, or is influenced by semantic contexts in unambiguous sentences. In this study, we investigated the interpretation of wh-words in 4-15-year-old Mandarin-speaking high-functioning children with autism spectrum disorders (ASD), as a comparison to typically developing (TD) children. The results showed that older children with ASD demonstrated unimpaired knowledge of the access to both readings, either by using intonation cues in ambiguous sentences or via semantic contexts in unambiguous sentences. However, compared to TD controls and older children with ASD, younger children with ASD appeared to have more difficulties with accessing the statement readings of these wh-words, though they had no problems with the question readings. To sum up, the experimental findings demonstrated children with ASD's relative strengths in understanding these linguistic properties specific to the interpretation of the Mandarin wh-words, though a complete capture of this knowledge is subject to a developmental effect. We discussed the results from the perspective the contribution the language faculty makes to language acquisition in children with ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Su, Yi (Esther)] Cent S Univ, Sch Foreign Languages, Inst Appl Linguist, Changsha 410083, Hunan, Peoples R China.
[Su, Yi (Esther); Su, Lin-Yan] Cent S Univ, Mental Hlth Inst, Natl Technol Inst Psychiat, Key Lab Psychiat & Mental Hlth Hunan Prov,Xiangya, Changsha 410011, Hunan, Peoples R China.
[Jin, Yu] Sun Yat Sen Univ, Sch Publ Hlth, Fac Maternal & Child Hlth, Guangzhou 510080, Guangdong, Peoples R China.
[Wan, Guo-Bin] Shenzhen Maternal & Child Hlth Care Hosp, Dept Child Psychiat, Shenzhen 518048, Guangdong, Peoples R China.
[Zhang, Ji-Shui] Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China.
RP Su, LY (reprint author), Second Xiangya Hosp, Mental Hlth Inst, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China.
EM sy-esther@hotmail.com; jinyu@mail.sysu.edu.cn; gbw1978@aliyun.com;
zhangjishui@163.com; su-linyan@hotmail.com
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NR 59
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1364
EP 1372
DI 10.1016/j.rasd.2014.07.008
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100011
ER
PT J
AU McGrew, JH
Keyes, ML
AF McGrew, John H.
Keyes, Melissa L.
TI Caregiver stress during the first year after diagnosis of an Autism
Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Caregiver burden; Marital adjustment; Autism Spectrum Disorders;
Diagnosis; Longitudinal
ID DOUBLE ABCX MODEL; SOCIAL SUPPORT; PARENTING STRESS; INTELLECTUAL
DISABILITY; STRAIN QUESTIONNAIRE; DYADIC ADJUSTMENT; COPING STRATEGIES;
FAMILY ADJUSTMENT; BEHAVIOR PROBLEMS; ASPERGER-SYNDROME
AB Caregiver burden and marital adjustment of mothers of children diagnosed with Autism Spectrum Disorder (ASD) were assessed at baseline, i.e., within six months of diagnosis (n = 79), and again 12 months later (n = 65), using predictors from the double ABCX family adaptation model, e.g., life demands, social support, appraisal, coping. Although there were no changes over time in burden or marital adjustment, participants reported increased positive appraisals of having a child with autism, increased support from providers and decreased use of problem focused coping. Cross-sectionally at Time 2, hypothesized predictors of marital adjustment and caregiver burden derived from the literature and from stress and coping theory (Lazarus & Folkman, 1984) were largely confirmed. Longitudinally, after adjusting for baseline levels in the multiple regressions, better marital adjustment at 12 months was associated with changes over time in three predictor variables: decreased negative appraisal, decreased pile-up stress, and increased general social support. Predictors of increased caregiver burden at 12 months, after adjusting for baseline levels, were increased negative appraisal, increased avoidant coping and decreased problem focused coping. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [McGrew, John H.; Keyes, Melissa L.] Indiana Univ Purdue Univ, Dept Psychol, Indianapolis, IN 46202 USA.
RP McGrew, JH (reprint author), Indiana Univ Purdue Univ, Dept Psychol, 402 N Blackford St,LD124, Indianapolis, IN 46202 USA.
EM jmcgrew@iupui.edu; Melissa.l.keyes@gmail.com
CR APA, 2013, DIAGNOSTIC AND STATI
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NR 80
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 OCT
PY 2014
VL 8
IS 10
BP 1373
EP 1385
DI 10.1016/j.rasd.2014.07.011
PG 13
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100012
ER
PT J
AU Wu, CL
Tseng, LP
An, CP
Chen, HC
Chan, YC
Shih, CI
Zhuo, SL
AF Wu, Ching-Lin
Tseng, Lei-Pin
An, Chih-Pei
Chen, Hsueh-Chih
Chan, Yu-Chen
Shih, Chen-I
Zhuo, Shu-Ling
TI Do individuals with autism lack a sense of humor? A study of humor
comprehension, appreciation, and styles among high school students with
autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Humor comprehension; Humor appreciation; Humor style
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; VERBAL HUMOR; QUESTIONNAIRE;
FMRI; ADULTS; MIND
AB Humor helps to build interpersonal bonds and allows individuals to feel closer. Previous research has generally claimed that individuals with autism have difficulty with interpersonal communication and social contacts, but there has been no such consensus regarding the sense of humor among individuals with autism. To address this issue, the present study aimed to compare the comprehension of, appreciation for, and preferred styles of humor between students with and without autism. The samples consisted of 177 high school students with autism and 177 control high school students. Every participant was within the normal range of intelligence. The gender ratio and age ratio of the two groups were maintained through pairwise sampling. The research tools were a questionnaire regarding the comprehension of and appreciation for nonsense and incongruity-resolution jokes, and the Humor Styles Questionnaire. The results show that the students with autism did not comprehend the nonsense jokes and incongruity-resolution jokes as well as the control students did, but they felt greater enjoyment when reading nonsense jokes. The students with autism preferred the nonsense jokes which is featured of less logical reasoning and using homophones for double-meaning. The tendencies toward affiliative humor, self-enhancing humor, and self-defeating humor among the students with autism were not as strong as those among the control students. Only the tendency toward aggressive humor was equal between two groups, showing that the students with autism still have sense of humor but tend to use hostile humor style. It is suggested to investigate the tendency of hostile humor in people with autism, and to provide them with affiliative humor to break the interpersonal stalemate experienced by individuals with autism. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wu, Ching-Lin; Tseng, Lei-Pin; An, Chih-Pei; Chen, Hsueh-Chih; Shih, Chen-I] Natl Taiwan Normal Univ, Dept Educ Psychol & Counseling, Taipei, Taiwan.
[Chan, Yu-Chen] Natl Tsing Hua Univ, Inst Learning Sci, Hsinchu, Taiwan.
[Zhuo, Shu-Ling] Fu Jen Catholic Univ, Dept Clin Psychol, Taipei, Taiwan.
RP Chen, HC (reprint author), Natl Taiwan Normal Univ, Dept Educ Psychol & Counseling, Taipei, Taiwan.
EM chcjyh@gmail.com
CR American Psychiatric Association, 2013, DIAGNOSTIC AND STATI
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NR 35
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 OCT
PY 2014
VL 8
IS 10
BP 1386
EP 1393
DI 10.1016/j.rasd.2014.07.006
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100013
ER
PT J
AU Wright, K
Kelley, E
Poulin-Dubois, D
AF Wright, Kristyn
Kelley, Elizabeth
Poulin-Dubois, Diane
TI Schematic and realistic biological motion identification in children
with high-functioning Autism Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorder; Animacy; Biological motion
ID PERVASIVE DEVELOPMENTAL DISORDERS; TYPICALLY DEVELOPING-CHILDREN; GOAL
ATTRIBUTION; YOUNG-CHILDREN; PERCEPTION; RECOGNITION; INFANTS;
INDIVIDUALS; CAUSALITY; DISPLAYS
AB Research investigating biological motion perception in children with ASD has revealed conflicting findings concerning whether impairments in biological motion perception exist. The current study investigated how children with high-functioning ASD (HF-ASD) performed on two tasks of biological motion identification: a novel schematic motion identification task and a point-light biological motion identification task. Twenty-two HF-ASD children were matched with 21 TD children on gender, non-verbal mental, and chronological, age (M years = 6.72). On both tasks, HF-ASD children performed with similar accuracy as TO children. Across groups, children performed better on animate than on inanimate trials of both tasks. These findings suggest that identification of both realistic and schematic biological motion is unimpaired in children with HF-ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Wright, Kristyn; Poulin-Dubois, Diane] Concordia Univ, Dept Psychol, Montreal, PQ, Canada.
[Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
RP Wright, K (reprint author), Concordia Univ, Dept Psychol, Montreal, PQ, Canada.
EM kr_wrigh@live.concordia.ca
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Trauble B., 2014, SPEED AND DIRECTION
Tremoulet PD, 2000, PERCEPTION, V29, P943, DOI 10.1068/p3101
Troje NF, 2013, SOCIAL PERCEPTION: DETECTION AND INTERPRETATION OF ANIMACY, AGENCY, AND INTENTION, P13
Yoon JMD, 2009, CHILD DEV, V80, P1069, DOI 10.1111/j.1467-8624.2009.01317.x
NR 67
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1394
EP 1404
DI 10.1016/j.rasd.2014.07.005
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100014
ER
PT J
AU Weng, PL
Bouck, EC
AF Weng, Pei-Lin
Bouck, Emily C.
TI Using video prompting via iPads to teach price comparison to adolescents
with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Price comparison; Functional mathematics; Video prompting; Tablet
computer; iPad (R)
ID DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; STUDENTS; SKILLS;
INTERVENTION; INDIVIDUALS; GROCERY
AB Price comparison is a functional mathematics skill commonly taught to secondary students with autism and intellectual disability to increase independence; yet, a lack of evidence-based practice in teaching price comparison exists. The purpose of this study was to examine the effectiveness of video prompting to teach price comparison using an adapted number line. A single-subject, multiprobe, multiple baseline design study was employed across three secondary students with autism. The results showed two out of three students benefited from video prompting presented on an iPad to complete price comparison tasks during the in-class simulation and the grocery store settings. Of the three students, one student completed price comparison tasks solely from video prompting and the other two students required video prompting in conjunction with the system of most-to-least prompts. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Weng, Pei-Lin] William Paterson Univ, Dept Special Educ & Counseling, Wayne, NJ 07470 USA.
[Bouck, Emily C.] Michigan State Univ, Dept Counseling Educ Psychol & Special Educ, E Lansing, MI 48824 USA.
RP Weng, PL (reprint author), 1101 S State St,Apt 1107, Chicago, IL 60605 USA.
EM itat.sped@gmail.com
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NR 32
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD OCT
PY 2014
VL 8
IS 10
BP 1405
EP 1415
DI 10.1016/j.rasd.2014.06.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100015
ER
PT J
AU Maras, KL
Wimmer, MC
Robinson, EJ
Bowler, DM
AF Maras, Katie L.
Wimmer, Marina C.
Robinson, Elizabeth J.
Bowler, Dermot M.
TI Mental imagery scanning in autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Mental imagery; Scanning; Navigation;
Visuo-spatial processing; Working memory
ID EPISODIC FUTURE THINKING; HIGH-FUNCTIONING ADULTS; SPATIAL
WORKING-MEMORY; WEAK CENTRAL COHERENCE; VISUAL IMAGES; LOCAL BIAS; MIND;
INDIVIDUALS; PERCEPTION; PERFORMANCE
AB Navigational impairments have previously been reported in autism spectrum disorder (ASD). The present study examined the ability of individuals with ASD to generate and scan their mental image of a previously viewed map. Twenty-one ASD adults and 20 age- and IQ-matched comparison adults memorised a map of a fictitious island containing a number of landmarks. They then mentally imagined the map and were timed as they imagined a character walking between the various landmarks. Consistent with previous mental imagery research with typical individuals, there was a linear relationship between the time that participants took to mentally scan between the landmarks and the actual distance between the landmarks on the picture, and this was the case for both typical and ASD participants. ASD and comparison participants' mental image scanning times were both also influenced by misleading signposts in the picture that indicated different distances between landmarks, thus providing evidence that their mental images were penetrable by top-down information. Although ASD and comparison participants showed very similar mental imagery scanning performance, verbal IQ and working memory were significantly and positively associated with image scanning performance for the ASD, but not the comparison group. This finding furthers the notion of a compensatory reliance on different strategies in ASD to achieve similar surface performance to individuals from the general population. Findings have practical implications for supporting navigation strategies in ASD. (C) 2014 The Authors. Published by Elsevier Ltd.
C1 [Maras, Katie L.] Univ Bath, Bath BA2 7AY, Avon, England.
[Wimmer, Marina C.] Univ Plymouth, Plymouth PL4 8AA, Devon, England.
[Robinson, Elizabeth J.] Univ Warwick, Coventry CV4 7AL, W Midlands, England.
[Bowler, Dermot M.] City Univ London, London, England.
RP Maras, KL (reprint author), Univ Bath, Bath BA2 7AY, Avon, England.
EM k.l.maras@bath.ac.uk
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 53
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 OCT
PY 2014
VL 8
IS 10
BP 1416
EP 1423
DI 10.1016/j.rasd.2014.07.003
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AO7SE
UT WOS:000341552100016
ER
PT J
AU Taylor, MJ
Charman, T
Robinson, EB
Hayiou-Thomas, ME
Happe, F
Dale, PS
Ronald, A
AF Taylor, Mark J.
Charman, Tony
Robinson, Elise B.
Hayiou-Thomas, Marianna E.
Happe, Francesca
Dale, Philip S.
Ronald, Angelica
TI Language and Traits of Autism Spectrum Conditions: Evidence of Limited
Phenotypic and Etiological Overlap
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
LA English
DT Article
DE autism; receptive language; twin study
ID CAST CHILDHOOD ASPERGER; SUSCEPTIBILITY GENE; TWIN DATA; IMPAIRMENT;
DISORDERS; POPULATION; CHILDREN; ASSOCIATION; MATHEMATICS; COMORBIDITY
AB Language difficulties have historically been viewed as integral to autism spectrum conditions (ASC), leading molecular genetic studies to consider whether ASC and language difficulties have overlapping genetic bases. The extent of genetic, and also environmental, overlap between ASC and language is, however, unclear. We hence conducted a twin study of the concurrent association between autistic traits and receptive language abilities. Internet-based language tests were completed by approximate to 3,000 pairs of twins, while autistic traits were assessed via parent ratings. Twin model fitting explored the association between these measures in the full sample, while DeFries-Fulker analysis tested these associations at the extremes of the sample. Phenotypic associations between language ability and autistic traits were modest and negative. The degree of genetic overlap was also negative, indicating that genetic influences on autistic traits lowered language scores in the full sample (mean genetic correlation=-0.13). Genetic overlap was also low at the extremes of the sample (mean genetic correlation=0.14), indicating that genetic influences on quantitatively defined language difficulties were largely distinct from those on extreme autistic traits. Variation in language ability and autistic traits were also associated with largely different nonshared environmental influences. Language and autistic traits are influenced by largely distinct etiological factors. This has implications for molecular genetic studies of ASC and understanding the etiology of ASC. Additionally, these findings lend support to forthcoming DSM-5 changes to ASC diagnostic criteria that will see language difficulties separated from the core ASC communication symptoms, and instead listed as a clinical specifier. (c) 2014 Wiley Periodicals, Inc.
C1 [Taylor, Mark J.; Ronald, Angelica] Univ London, Genes Environm Lifespan Lab, Ctr Brain & Cognit Dev, Dept Psychol Sci, London WC1E 7JL, England.
[Charman, Tony] Kings Coll London, Dept Psychol, Inst Psychiat, London WC2R 2LS, England.
[Robinson, Elise B.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Robinson, Elise B.] Harvard Univ, Sch Med, Dept Med, Cambridge, MA 02138 USA.
[Hayiou-Thomas, Marianna E.] Univ York, Dept Psychol, York YO10 5DD, N Yorkshire, England.
[Happe, Francesca] Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
[Dale, Philip S.] Univ New Mexico, Dept Speech & Hearing Sci, Albuquerque, NM 87131 USA.
RP Taylor, MJ (reprint author), Univ London, Sch Psychol Sci, Ctr Brain, Genes Environm Lifespan Lab, 32 Torrington Sq, London WC1E 7JL, England.
EM mj.taylor@bbk.ac.uk
RI Ronald, Angelica/C-7812-2009; Dale, Philip/A-2254-2009
OI Ronald, Angelica/0000-0002-9576-2176; Dale, Philip/0000-0002-7697-8510
FU UK Medical Research Council [G0901245 G0500079]; Medical Research
Council; Economic and Social Research Council
FX Grant sponsor: UK Medical Research Council; Grant number: G0901245
G0500079; Grant sponsor: Medical Research Council and Economic and
Social Research Council.
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NR 54
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 OCT
PY 2014
VL 165
IS 7
BP 587
EP 595
DI 10.1002/ajmg.b.32262
PG 9
WC Genetics & Heredity; Psychiatry
SC Genetics & Heredity; Psychiatry
GA AP3MB
UT WOS:000341979000006
PM 25088445
ER
PT J
AU Cohen-Silver, JH
Muskat, B
Ratnapalan, S
AF Cohen-Silver, Justine Heather
Muskat, Barbara
Ratnapalan, Savithiri
TI Autism in the Emergency Department
SO CLINICAL PEDIATRICS
LA English
DT Article
DE autism; emergency department; paediatric
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CHILDREN;
PREVALENCE; HEALTH
AB Background. This is a retrospective chart review of autistic patients presenting to the emergency department (ED) in a tertiary care pediatric center during the year 2011. Results. There were 160 ED visits by 130 patients, 25% of visits were repeated, and 20% were admitted to the hospital. There were 126 (79%) male and 34 (21%) female patients mean age of 12 years, 79% had comorbid health conditions. Forty percent were CTAS 2 (Canadian Triage Acuity Score) acuity, 42% of visits were CTAS 3 acuity, and 7% rated their pain as severe. Visits were for behavior (10%), neurological concern (13%), 3% dental related, and the remainder were for gastrointestinal infections and other complaints. Average length of stay was 6 hours 21 minutes, with 2-hour wait to start assessment with physician. Conclusions. Autism is a prevalent diagnosis and patients with autism are accessing the ED. We hope to use these demographic findings to better serve these patients and their families.
C1 [Cohen-Silver, Justine Heather; Muskat, Barbara; Ratnapalan, Savithiri] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Ratnapalan, Savithiri] Dalla Lana Sch Publ Hlth, Toronto, ON, Canada.
[Ratnapalan, Savithiri] Univ Toronto, Toronto, ON, Canada.
RP Cohen-Silver, JH (reprint author), Hosp Sick Children, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM justine.cohen@mail.utoronto.ca
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NR 23
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0009-9228
EI 1938-2707
J9 CLIN PEDIATR
JI Clin. Pediatr.
PD OCT
PY 2014
VL 53
IS 12
BP 1134
EP 1138
DI 10.1177/0009922814540983
PG 5
WC Pediatrics
SC Pediatrics
GA AP2CS
UT WOS:000341880700002
PM 25031320
ER
PT J
AU Vogan, V
Lake, JK
Weiss, JA
Robinson, S
Tint, A
Lunsky, Y
AF Vogan, Vanessa
Lake, Johanna K.
Weiss, Jonathan A.
Robinson, Suzanne
Tint, Ami
Lunsky, Yona
TI Factors Associated with Caregiver Burden Among Parents of Individuals
with ASD: Differences Across Intellectual Functioning
SO FAMILY RELATIONS
LA English
DT Article
DE autism spectrum disorder; intellectual disability; caregiver burden;
Canada; mental health; parents; service system
ID AUTISM SPECTRUM DISORDERS; SOCIAL COMMUNICATION QUESTIONNAIRE;
MENTAL-RETARDATION; YOUNG-ADULTS; DEFICIT/HYPERACTIVITY DISORDER;
DEVELOPMENTAL-DISABILITIES; MARITAL SATISFACTION; RAISING CHILDREN;
MOTHERS; ADOLESCENTS
AB Symptoms of autism spectrum disorder (ASD) persist into adolescence and adulthood, when access to health services and supports become difficult. Consequently, most adolescents and adults with ASD remain reliant on their families for support, often resulting in caregiver burden among parents. This study aims to investigate factors associated with burden in parents of adolescents and young adults with ASD, and to understand how these factors differ across varying levels of intellectual functioning. Of the 297 parents sampled, ASD severity, externalizing behaviors, medical comorbidity, and parent age predicted burden in parents of adolescents and young adults with ASD and an intellectual disability (ID), whereas an inability to pay for services predicted burden in parents of individuals with ASD and no ID. Factors associated with caregiver burden differed among individuals with and without ID and were not limited to symptom severity or mental health problems, but also extended to system factors.
C1 [Vogan, Vanessa; Lake, Johanna K.; Lunsky, Yona] Ctr Addict & Mental Hlth, Dual Diag Program, Toronto, ON M5V 2B4, Canada.
[Vogan, Vanessa] Ontario Inst Studies Educ, Toronto, ON, Canada.
[Lake, Johanna K.; Lunsky, Yona] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Weiss, Jonathan A.; Robinson, Suzanne; Tint, Ami] York Univ, Dept Psychol, Toronto, ON M3J 1PE, Canada.
RP Vogan, V (reprint author), Ctr Addict & Mental Hlth, Dual Diag Program, 501 Queen St West, Toronto, ON M5V 2B4, Canada.
EM Yona.Lunsky@camh.ca
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NR 79
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0197-6664
EI 1741-3729
J9 FAM RELAT
JI Fam. Relat.
PD OCT
PY 2014
VL 63
IS 4
BP 554
EP 567
DI 10.1111/fare.12081
PG 14
WC Family Studies; Social Work
SC Family Studies; Social Work
GA AP0QT
UT WOS:000341768300009
ER
PT J
AU Trivedi, MS
Shah, JS
Al-Mughairy, S
Hodgson, NW
Simms, B
Trooskens, GA
Criekinge, W
Deth, RC
AF Trivedi, Malay S.
Shah, Jayni S.
Al-Mughairy, Sara
Hodgson, Nathaniel W.
Simms, Benjamin
Trooskens, Geert A.
Van Criekinge, Wim
Deth, Richard C.
TI Food-derived opioid peptides inhibit cysteine uptake with redox and
epigenetic consequences
SO JOURNAL OF NUTRITIONAL BIOCHEMISTRY
LA English
DT Article
DE Glutathione; Casomorphin; Gliadin; Autism spectrum disorder;
Schizophrenia; Celiac disease; Gluten-free/casein-free diet
ID AUTISM SPECTRUM DISORDERS; GLUTEN-FREE DIET; CELIAC-DISEASE; OXIDATIVE
STRESS; NEURODEVELOPMENTAL DISORDERS; CEREBROSPINAL-FLUID;
BETA-CASOMORPHINS; DNA METHYLATION; WHEAT GLUTEN; IN-VIVO
AB Dietary interventions like gluten-free and casein-free diets have been reported to improve intestinal, autoimmune and neurological symptoms in patients with a variety of conditions; however, the underlying mechanism of benefit for such diets remains unclear. Epigenetic programming, including CpG methylation and histone modifications, occurring during early postnatal development can influence the risk of disease in later life, and such programming may be modulated by nutritional factors such as milk and wheat, especially during the transition from a solely milk-based diet to one that includes other forms of nutrition. The hydrolytic digestion of casein (a major milk protein) and gliadin (a wheat-derived protein) releases peptides with opioid activity, and in the present study, we demonstrate that these food-derived proline-rich opioid peptides modulate cysteine uptake in cultured human neuronal and gastrointestinal (GI) epithelial cells via activation of opioid receptors. Decreases in cysteine uptake were associated with changes in the intracellular antioxidant glutathione and the methyl donor S-adenosylmethionine. Bovine and human casein-derived opioid peptides increased genome-wide DNA methylation in the transcription start site region with a potency order similar to their inhibition of cysteine uptake. Altered expression of genes involved in redox and methylation homeostasis was also observed. These results illustrate the potential of milk- and wheat-derived peptides to exert antioxidant and epigenetic changes that may be particularly important during the postnatal transition from placental to GI nutrition. Differences between peptides derived from human and bovine milk may contribute to developmental differences between breastfed and formula-fed infants. Restricted antioxidant capacity, caused by wheat- and milk-derived opioid peptides, may predispose susceptible individuals to inflammation and systemic oxidation, partly explaining the benefits of gluten-free or casein-free diets. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
C1 [Trivedi, Malay S.; Shah, Jayni S.; Al-Mughairy, Sara; Hodgson, Nathaniel W.; Simms, Benjamin; Deth, Richard C.] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA.
[Trooskens, Geert A.; Van Criekinge, Wim] Univ Ghent, Fac Biosci Engn, Dept Math Modelling Stat & Bioinformat, B-9000 Ghent, Belgium.
RP Deth, RC (reprint author), Northeastern Univ, Room 169,140 Fenway,360 Huntington Ave, Boston, MA 02115 USA.
EM r.deth@neu.edu
FU Autism Research Institute; A2 Corporation Limited; National Institute
for Drug Abuse [R21DA030225]
FX This work was supported by research grants to R.D. from the Autism
Research Institute, A2 Corporation Limited and the National Institute
for Drug Abuse (R21DA030225). The content is solely the responsibility
of the authors and does not necessarily represent the official views of
the National Institutes of Health.
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NR 51
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0955-2863
EI 1873-4847
J9 J NUTR BIOCHEM
JI J. Nutr. Biochem.
PD OCT
PY 2014
VL 25
IS 10
BP 1011
EP 1018
DI 10.1016/j.jnutbio.2014.05.004
PG 8
WC Biochemistry & Molecular Biology; Nutrition & Dietetics
SC Biochemistry & Molecular Biology; Nutrition & Dietetics
GA AP1AQ
UT WOS:000341799200004
PM 25018147
ER
PT J
AU Schneider, D
Nott, ZE
Dux, PE
AF Schneider, Dana
Nott, Zoie E.
Dux, Paul E.
TI Task instructions and implicit theory of mind
SO COGNITION
LA English
DT Article
DE Theory of Mind; Anticipatory looking; Implicit processing; Mentalizing;
Automatic processing
ID MENTAL STATES; BELIEFS; AUTISM; OTHERS; REPRESENTATION; CHIMPANZEE;
INFANTS
AB It has been hypothesized that humans are able to track other's mental states efficiently and without being conscious of doing so using their implicit theory of mind (iToM) system. However, while iToM appears to operate unconsciously recent work suggests it does draw on executive attentional resources (Schneider, Lam, Bayliss, 82 Dux, 2012) bringing into question whether iToM is engaged efficiently. Here, we examined other aspects relating to automatic processing: The extent to which the operation of iToM is controllable and how it is influenced by beavioral intentions. This was implemented by assessing how task instructions affect eye-movement patterns in a Sally-Anne false-belief task. One group of subjects was given no task instructions (No Instructions), another overtly judged the location of a ball a protagonist interacted with (Ball Tracking) and a third indicated the location consistent with the actor's belief about the ball's location (Belief Tracking). Despite different task goals, all groups' eye-movement patterns were consistent with belief analysis, and the No Instructions and Ball Tracking groups reported no explicit mentalizing when debriefed. These findings represent definitive evidence that humans implicitly track the belief states of others in an uncontrollable and unintentional manner. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Schneider, Dana; Nott, Zoie E.; Dux, Paul E.] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
[Schneider, Dana] Univ Jena, Inst Psychol, D-07743 Jena, Germany.
RP Schneider, D (reprint author), Univ Jena, Dept Gen Psychol & Cognit Neurosci, Inst Psychol, Steiger 3,Haus 1, D-07743 Jena, Germany.
EM msdanaschneider@gmail.com; paul.e.dux@gmail.com
RI Dux, Paul/I-1098-2014
OI Dux, Paul/0000-0002-4270-2583
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NR 29
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 43
EP 47
DI 10.1016/j.cognition.2014.05.016
PG 5
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200005
PM 24955887
ER
PT J
AU Banerjee, K
Bloom, P
AF Banerjee, Konika
Bloom, Paul
TI Why did this happen to me? Religious believers' and non-believers'
teleological reasoning about life events
SO COGNITION
LA English
DT Article
DE Teleological reasoning; Fate; Religion; Life events; Theory of mind;
Cognitive biases
ID GENERAL ATTRIBUTION THEORY; SPECTRUM QUOTIENT AQ; COMPENSATORY CONTROL;
NONMATERIAL BELIEFS; FUNCTIONING AUTISM; PARANORMAL BELIEF; EMPATHY
QUOTIENT; MIND PERCEPTION; GOD; EXPLANATIONS
AB People often believe that significant life events happen for a reason. In three studies, we examined evidence for the view that teleological beliefs reflect a general cognitive bias to view the world in terms of agency, purpose, and design. Consistent with this hypothesis, we found that individual differences in mentalizing ability predicted both the tendency to believe in fate (Study 1) and to infer purposeful causes of one's own life events (Study 2). In addition, people's perception of purpose in life events was correlated with their teleological beliefs about nature, but this relationship was driven primarily by individuals' explicit religious and paranormal beliefs (Study 3). Across all three studies, we found that while people who believe in God hold stronger teleological beliefs than those who do not, there is nonetheless evidence of teleological beliefs among non-believers, confirming that the perception of purpose in life events does not rely on theistic belief. These findings suggest that the tendency to perceive design and purpose in life events while moderated by theistic belief is not solely a consequence of culturally transmitted religious ideas. Rather, this teleological bias has its roots in certain more general social propensities. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Banerjee, Konika; Bloom, Paul] Yale Univ, Dept Psychol, New Haven, CT 06520 USA.
RP Banerjee, K (reprint author), Yale Univ, Dept Psychol, 2 Hillhouse Ave, New Haven, CT 06520 USA.
EM konika.banerjee@yale.edu; paul.bloom@yale.edu
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NR 103
TC 4
Z9 4
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 277
EP 303
DI 10.1016/j.cognition.2014.06.017
PG 27
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200025
PM 25064830
ER
PT J
AU Staudte, M
Crocker, MW
Heloir, A
Kipp, M
AF Staudte, Maria
Crocker, Matthew W.
Heloir, Alexis
Kipp, Michael
TI The influence of speaker gaze on listener comprehension: Contrasting
visual versus intentional accounts
SO COGNITION
LA English
DT Article
DE Joint attention; Gaze; Arrows; Visual attention shifts; Referential
intention; Language comprehension
ID ARROW CUES; COUNTERPREDICTIVE GAZE; AUTISM SPECTRUM; ATTENTION; EYES;
OTHERS
AB Previous research has shown that listeners follow speaker gaze to mentioned objects in a shared environment to ground referring expressions, both for human and robot speakers. What is less clear is whether the benefit of speaker gaze is due to the inference of referential intentions (Staudte and Crocker, 2011) or simply the (reflexive) shifts in visual attention. That is, is gaze special in how it affects simultaneous utterance comprehension? In four eye-tracking studies we directly contrast speech-aligned speaker gaze of a virtual agent with a non-gaze visual cue (arrow). Our findings show that both cues similarly direct listeners' attention and that listeners can benefit in utterance comprehension from both cues. Only when they are similarly precise, however, does this equality extend to incongruent cueing sequences: that is, even when the cue sequence does not match the concurrent sequence of spoken referents can listeners benefit from gaze as well as arrows. The results suggest that listeners are able to learn a counter-predictive mapping of both cues to the sequence of referents. Thus, gaze and arrows can in principle be applied with equal flexibility and efficiency during language comprehension. (c) 2014 Elsevier B.V. All rights reserved.
C1 [Staudte, Maria; Crocker, Matthew W.] Univ Saarland, Dept Computat Linguist, D-66123 Saarbrucken, Germany.
[Heloir, Alexis] Univ Saarland, DFKI MMCI, D-66123 Saarbrucken, Germany.
[Heloir, Alexis] Univ Valenciennes, LAMIH UMR CNRS 8201, Valenciennes, France.
[Kipp, Michael] Augsburg Univ Appl Sci, Augsburg, Germany.
RP Staudte, M (reprint author), Univ Saarland, Dept Computat Linguist, D-66123 Saarbrucken, Germany.
EM masta@coli.uni-saarland.de
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NR 28
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0010-0277
EI 1873-7838
J9 COGNITION
JI Cognition
PD OCT
PY 2014
VL 133
IS 1
BP 317
EP 328
DI 10.1016/j.cognition.2014.06.003
PG 12
WC Psychology, Experimental
SC Psychology
GA AO6KY
UT WOS:000341462200027
PM 25079951
ER
PT J
AU Alsaeed, I
Al-Somali, F
Sakhnini, L
Aljarallah, OS
Hamdan, RMM
Bubishate, SA
Sarfaraz, ZK
Kamal, A
AF Alsaeed, Ibrahim
Al-Somali, Faisal
Sakhnini, Lama
Aljarallah, Omar S.
Hamdan, Rayan M. M.
Bubishate, Saleh A.
Sarfaraz, Ziyab Khan
Kamal, Amer
TI Autism-relevant social abnormalities in mice exposed perinatally to
extremely low frequency electromagnetic fields
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorder; Electromagnetic field; Perinatal exposure;
Anxiety; Social novelty; Motor coordination
ID INTENSITY MAGNETIC-FIELD; 5-HT1B RECEPTOR; MOUSE MODELS; 50 HZ;
BEHAVIOR; RATS; DISORDERS; SEROTONIN; BRAIN; MOTOR
AB The incidence of autism spectrum disorders (ASD) has been rising, but the causes of ASD remain largely unidentified. Collective data have implicated the increased human exposure to electromagnetic fields (EMF) in the increasing incidence of ASD. There are established biological effects of extremely low-frequency (ELF) EMF, but the relation to ASD is not investigated enough. In this study we examined the effects of perinatal exposure to ELF EMF on some ASD-relevant behavioral parameters in mice. The EMF was delivered via a Helmholtz coil pair. Male BALB/C mice were used and divided into exposed and control groups (n=8 and n=9, respectively). Tests were used to assess sociability, preference for social novelty, locomotion, anxiety, exploratory behavior, motor coordination, and olfaction. The examined mice were all males and exposed to EMF during the last week of gestation and for 7 days after delivery. The exposed mice demonstrated a lack of normal sociability and preference for social novelty while maintaining normal anxiety-like behavior, locomotion, motor coordination, and olfaction. Exposed mice also demonstrated decreased exploratory activity. We concluded that these results are supportive of the hypothesis of a causal link between exposure to ELF-EMF and ASD; however, replications of the study with further tests are recommended. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Alsaeed, Ibrahim; Al-Somali, Faisal; Aljarallah, Omar S.; Hamdan, Rayan M. M.; Bubishate, Saleh A.; Sarfaraz, Ziyab Khan; Kamal, Amer] Arabian Gulf Univ, Coll Med & Med Sci, Dept Physiol, Manama, Bahrain.
[Sakhnini, Lama] Univ Bahrain, Dept Phys, Coll Sci, Manama, Bahrain.
RP Kamal, A (reprint author), Arabian Gulf Univ, Coll Med & Med Sci, Dept Physiol, POB 26671, Manama, Bahrain.
EM amerha@agu.edu.bh
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NR 58
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD OCT
PY 2014
VL 37
BP 58
EP 64
DI 10.1016/j.ijdevneu.2014.06.010
PG 7
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AO6PY
UT WOS:000341475200009
PM 24970316
ER
PT J
AU Zhang, QB
Jiang, LF
Kong, LY
Lu, YJ
AF Zhang, Qing-biao
Jiang, Liang-fu
Kong, Ling-yu
Lu, Yuan-Jun
TI Serum Brain-derived neurotrophic factor levels in Chinese children with
autism spectrum disorders: A pilot study
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Autism spectrum disorders; Brain-derived neurotrophic factor; Risk;
Chinese
ID FACTOR BDNF LEVELS; MENTAL-RETARDATION; OXIDATIVE STRESS; NEONATAL
BLOOD; NEUROPEPTIDES; NEUROTENSIN; PROTEIN
AB Brain-derived neurotrophic factor (BDNF) plays a critical role in the pathogenesis of Autism spectrum disorders (ASD). The purpose of this study was to investigate the potential role of BDNF in Chinese children with ASD. Sixty patients (48 male, 12 female) diagnosed with ASD and 60 healthy sex and age control subjects were assessed for serum BDNF content at admission. BDNF were assayed with enzyme-linked immunosorbent assay methods, and severity of ASD was evaluated with the Childhood Autism Rating Scale (CARS) Score. The results indicated that the median serum BDNF levels were significantly (P<0.0001) higher in children with ASD as compared to normal cases [17.6(IQR: 13.7-21.4) ng/ml and 11.5(9.6-13.8) ng/ml, respectively]. Based on the receiver operating characteristic (ROC) curve, the optimal cut-off value of serum BDNF levels as an indicator for auxiliary diagnosis of autism was projected to be 15.0 ng/ml. Further, we found that an increased risk of ASD was associated with BDNF levels >15.0 ng/ml (adjusted OR 10.4,95% CI: 4.39-29.32) after adjusting for above possible confounders. Our study demonstrated that serum BDNF levels were associated with ASD, and higher levels could be considered as an independent risk factor of ASD. (C) 2014 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Zhang, Qing-biao] Linyi Peoples Hosp, Dept Pediat Internal Med 2, Linyi, Shandong, Peoples R China.
[Jiang, Liang-fu; Lu, Yuan-Jun] Linyi Peoples Hosp, Dept Pediat Surg 1, Linyi, Shandong, Peoples R China.
[Kong, Ling-yu] Linyi Tumors Hosp, Dept Breast Surg, Linyi, Shandong, Peoples R China.
RP Lu, YJ (reprint author), 27 Eastern Sect Jiefang Rd, Linyi 276003, Shandong, Peoples R China.
EM YCHAO157@163.com
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NR 28
TC 4
Z9 4
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0736-5748
EI 1873-474X
J9 INT J DEV NEUROSCI
JI Int. J. Dev. Neurosci.
PD OCT
PY 2014
VL 37
BP 65
EP 68
DI 10.1016/j.ijdevneu.2014.06.013
PG 4
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AO6PY
UT WOS:000341475200010
PM 24984148
ER
PT J
AU O'Reilly, J
Peterson, CC
AF O'Reilly, Jessica
Peterson, Candida C.
TI Scaling Theory of Mind Development in Indigenous- and Anglo-Australian
Toddlers and Older Children
SO JOURNAL OF CROSS-CULTURAL PSYCHOLOGY
LA English
DT Article
DE developmental; cognitive; social cognition; communication; cultural
psychology
ID FALSE-BELIEF; CHINESE CHILDREN; AUTISM-SPECTRUM; METAANALYSIS; LANGUAGE;
CULTURES
AB We examined the growth of a theory of mind (ToM) in Indigenous Australian children who spoke Aboriginal English as their first language. We also pioneered the suitability of a five-step developmental scale of ToM understanding for 2-year-old toddlers from Indigenous-and Anglo-Australian cultural backgrounds. A total of 97 children aged 2 to 5 years took (a) a battery of false belief (FB) tests, (b) a developmental ToM Scale, and (c) a standard language ability test. Results showed that, contrary to earlier findings for Piagetian tasks, the Indigenous Australian children were not delayed in ToM understanding. Instead, at age 2, Indigenous toddlers significantly outperformed their Anglo peers and throughout the preschool years they scored just as highly on FB and all ToM Scale steps as Anglo-Australians their age, notwithstanding their statistically significant delays behind Anglo-Australians in standard English language skill (the language of testing). We also found, for the first time, that the five-step ToM Scale was both suitable for, and sensitive to individual differences in, children as young as age 2. These findings add to a growing body of research highlighting the importance of early family and cultural experiences for the growth of social cognition.
C1 [O'Reilly, Jessica; Peterson, Candida C.] Univ Queensland, Brisbane, Qld 4072, Australia.
RP Peterson, CC (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM candi@psy.uq.edu.au
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NR 47
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-0221
EI 1552-5422
J9 J CROSS CULT PSYCHOL
JI J. Cross-Cult. Psychol.
PD OCT
PY 2014
VL 45
IS 9
BP 1489
EP 1501
DI 10.1177/0022022114542285
PG 13
WC Psychology, Social
SC Psychology
GA AO6DF
UT WOS:000341438700008
ER
PT J
AU Limprasert, P
Maisrikhaw, W
Sripo, T
Wirojanan, J
Hansakunachai, T
Roongpraiwan, R
Sombuntham, T
Ruangdaraganon, N
Guo, XQ
AF Limprasert, Pornprot
Maisrikhaw, Worathai
Sripo, Thanya
Wirojanan, Juthamas
Hansakunachai, Tippawan
Roongpraiwan, Rawiwan
Sombuntham, Tasnawat
Ruangdaraganon, Nichara
Guo, Xiuqing
TI No association of Val158Met variant in the COMT gene with autism
spectrum disorder in Thai children
SO PSYCHIATRIC GENETICS
LA English
DT Article
ID POLYMORPHISM
C1 [Limprasert, Pornprot; Maisrikhaw, Worathai; Sripo, Thanya] Prince Songkla Univ, Div Human Genet, Dept Pathol, Fac Med, Hat Yai 90110, Songkhla, Thailand.
[Wirojanan, Juthamas] Prince Songkla Univ, Fac Med, Dept Pediat, Hat Yai 90110, Songkhla, Thailand.
[Hansakunachai, Tippawan] Thammasat Univ, Dept Pediat, Fac Med, Pathum Thani, Thailand.
[Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand.
[Guo, Xiuqing] Harbor UCLA Med Ctr, Los Angeles BioMed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA.
RP Limprasert, P (reprint author), Prince Songkla Univ, Div Human Genet, Dept Pathol, Fac Med, Hat Yai 90110, Songkhla, Thailand.
EM lpornpro@yahoo.com
CR Chen JS, 2004, AM J HUM GENET, V75, P807, DOI 10.1086/425589
Guo TY, 2013, J INT MED RES, V41, P725, DOI 10.1177/0300060513479871
James SJ, 2006, AM J MED GENET B, V141B, P947, DOI 10.1002/ajmg.b.30366
Yirmiya N, 2001, AM J MED GENET, V105, P381, DOI 10.1002/ajmg.1365
Yoo HJ, 2013, J KOREAN MED SCI, V28, P1403, DOI 10.3346/jkms.2013.28.9.1403
NR 5
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD OCT
PY 2014
VL 24
IS 5
BP 230
EP 231
DI 10.1097/YPG.0000000000000046
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO7BP
UT WOS:000341507300008
PM 24912046
ER
PT J
AU Zimmermann, K
Gorgens, H
Brauer, D
Einsle, F
Noack, B
von Kannen, S
Grossmann, M
Hoyer, J
Strobel, A
Kollner, V
Weidner, K
Ziegler, A
Hemmelmann, C
Schackert, HK
AF Zimmermann, Katrin
Goergens, Heike
Braeuer, David
Einsle, Franziska
Noack, Barbara
von Kannen, Stephanie
Grossmann, Maria
Hoyer, Juergen
Strobel, Alexander
Koellner, Volker
Weidner, Kerstin
Ziegler, Andreas
Hemmelmann, Claudia
Schackert, Hans K.
TI Analysis of gastrin-releasing peptide gene and gastrin-releasing peptide
receptor gene in patients with agoraphobia
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE agoraphobia; gastrin-releasing peptide gene; gastrin-releasing peptide
receptor; genetic variants; panic disorder; sequence analysis
ID GRPR LOCUS; AUTISM
AB A gastrin-releasing peptide receptor (GRPR) knock-out mouse model provided evidence that the gastrin-releasing peptide (GRP) and its neural circuitry operate as a negative feedback-loop regulating fear, suggesting a novel candidate mechanism contributing to individual differences in fear-conditioning and associated psychiatric disorders such as agoraphobia with/without panic disorder. Studies in humans, however, provided inconclusive evidence on the association of GRP and GRPR variations in agoraphobia with/without panic disorder. Based on these findings, we investigated whether GRP and GRPR variants are associated with agoraphobia. Mental disorders were assessed via the Munich-Composite International Diagnostic Interview (M-CIDI) in 95 patients with agoraphobia with/without panic disorder and 119 controls without any mental disorders. A complete sequence analysis of GRP and GRPR was performed in all participants. We found no association of 16 GRP and 7 GRPR variants with agoraphobia with/without panic disorder. (C) 2014 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Zimmermann, Katrin; Weidner, Kerstin] Univ Hosp Carl Gustav Carus, Dept Psychotherapy & Psychosomat Med, Dresden, Germany.
[Goergens, Heike; von Kannen, Stephanie; Grossmann, Maria; Schackert, Hans K.] Univ Hosp Carl Gustav Carus, Dept Surg Res, Dresden, Germany.
[Noack, Barbara] Univ Hosp Carl Gustav Carus, Dept Conservat Dent, Dresden, Germany.
[Braeuer, David; Einsle, Franziska; Hoyer, Juergen] Tech Univ Dresden, Inst Clin Psychol Psychotherapy, D-01187 Dresden, Germany.
[Strobel, Alexander] Stadt Krankenhaus Dresden Friedrichstadt, Inst Psychol 2, Dresden, Germany.
[Braeuer, David] Stadt Krankenhaus Dresden Friedrichstadt, Dept Psychiat, Dresden, Germany.
[Koellner, Volker] Bliestal Clin, Dept Psychosomat Med & Psychotherapy, Blieskastel, Germany.
[Ziegler, Andreas; Hemmelmann, Claudia] Univ Hosp Schleswig Holstein, Inst Med Biometry & Stat, Lubeck, Germany.
[Ziegler, Andreas] Med Univ Lubeck, Ctr Clin Trials, D-23538 Lubeck, Germany.
RP Brauer, D (reprint author), Tech Univ Dresden, Inst Clin Psychol Psychotherapy, Hohe Str 53, D-01187 Dresden, Germany.
EM braeuer@psychologie.tu-dresden.de
CR Heidary G, 1998, AM J MED GENET, V78, P173, DOI 10.1002/(SICI)1096-8628(19980630)78:2<173::AID-AJMG15>3.0.CO;2-K
Hodges LM, 2009, AM J MED GENET B, V150B, P65, DOI 10.1002/ajmg.b.30773
Marui T, 2004, BRAIN DEV-JPN, V26, P5, DOI 10.1016/S0387-7604(03)00067-6
Seidita G, 2008, AM J MED GENET B, V147B, P807, DOI 10.1002/ajmg.b.30752
Shumyatsky GP, 2002, CELL, V111, P905, DOI 10.1016/S0092-8674(02)01116-9
Wittchen H-U, 1996, COMPOSITE INT DIAGNO
NR 6
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0955-8829
EI 1473-5873
J9 PSYCHIAT GENET
JI Psychiatr. Genet.
PD OCT
PY 2014
VL 24
IS 5
BP 232
EP 233
DI 10.1097/YPG.0000000000000038
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO7BP
UT WOS:000341507300009
PM 24912045
ER
PT J
AU Hendy, HM
Williams, KE
Harclerode, W
Riegel, K
AF Hendy, Helen M.
Williams, Keith E.
Harclerode, Whitney
Riegel, Katherine
TI Parent Attribution for Child Eating Scale (PACES). Psychometric
characteristics and associations with child and parent variables
SO APPETITE
LA English
DT Article
DE Child eating problems; Parent feeding practices; Parent perceptions;
Attributions
ID FEEDING PROBLEMS; DISEASE; LOCUS; STRATEGIES; DISORDERS; INFANTS;
WEIGHT; HEALTH
AB Parent participation in interventions for their children's feeding problems may depend on parent attributions for the origins of these problems, but no measure is available to identify these parent perceptions. The purpose of the present paper was to develop a new Parent Attribution for Child Eating Scale (PACES), then to examine how parent perceptions measured by the PACES were associated with child variables and parent feeding practices. Participants included parents of 393 children from a hospital feeding clinic (68.2% boys; mean age = 55.4 months). Parents completed surveys to report children's demographic, medical, and feeding variables, three-point ratings for possible origins of these feeding problems, and their own use of nine child-feeding practices. Exploratory factor analysis of the parent ratings produced the 21-item PACES with four dimensions: Permissive Parenting, Medical Treatments, Oral Problems, and Vomiting Fear. The PACES showed acceptable goodness-of-fit, internal reliability, test-retest reliability, and support for its validity with expected correlations with child and parent variables. Multiple regression revealed that nine child variables (age, body mass index, gender, autism, gastrointestinal problems, neurological problems, oral motor problems, texture feeding problems, diet variety) explained 19-41% of the variance in the four PACES attributions, with oral motor problems significantly correlated with all of them (negatively with Permissive Parenting, positively with the other three), suggesting that its occurrence in combination with other child variables guides parent explanations for children's feeding problems. Multiple regression also found that Many Food Choices was the only parent feeding practice significantly correlated with all four PACES attributions (positively with Permissive Parenting, negatively with the other three), suggesting that it may be parents' primary response to attributions they develop for their children's feeding problems. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hendy, Helen M.] Penn State Univ, Psychol Program, Schuylkill Haven, PA 17972 USA.
[Williams, Keith E.; Harclerode, Whitney; Riegel, Katherine] Penn State Hershey Med Ctr, Hershey, PA 17033 USA.
RP Hendy, HM (reprint author), Penn State Univ, Psychol Program, Schuylkill Campus,200 Univ Dr, Schuylkill Haven, PA 17972 USA.
EM h14@psu.edu
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NR 30
TC 0
Z9 0
PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
PI LONDON
PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND
SN 0195-6663
EI 1095-8304
J9 APPETITE
JI Appetite
PD OCT 1
PY 2014
VL 81
BP 312
EP 319
DI 10.1016/j.appet.2014.06.029
PG 8
WC Behavioral Sciences; Nutrition & Dietetics
SC Behavioral Sciences; Nutrition & Dietetics
GA AO0GL
UT WOS:000340987000039
PM 24979332
ER
PT J
AU Marin, AM
Seco, FL
Serrano, SM
Garcia, SA
Gomez, MG
Ney, I
AF Masana Marin, Adela
Lopez Seco, Fernando
Marti Serrano, Susana
Acosta Garcia, Silvia
Gaviria Gomez, Milena
Ney, Inti
TI Do Firstborn Children Have an Increased Risk of ADHD?
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE Attention deficit disorder; ADHD; epidemiology; family risk factors;
firstborn children
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; BIRTH-ORDER; PERINATAL FACTORS; ATOPIC DISEASES; ASTHMA;
AUTISM; POPULATION; PREVALENCE; ALLERGY
AB Objective: Although previous reports have found no birth-order influence on ADHD risk, the authors hypothesize that being the firstborn is a risk factor for developing ADHD. Method: They selected all of the currently treated ADHD outpatients (n = 748) from our database. Families with adopted sons, nonnuclear families, and families with only one child and with sons (affected or unaffected) younger than 6 or older than 18 years were excluded. A total of 181 families with 213 ADHD sons met the inclusion criteria. We used all siblings without a clinical diagnosis of ADHD and who had no contact with our service as our unaffected controls (n = 173). Results: The bivariate analysis showed that ADHD was associated with birth order and that firstborn children had nearly twice the ADHD risk of children with other birth orders. Conclusion: birth order can be an ADHD risk factor in clinical samples.
C1 [Masana Marin, Adela; Lopez Seco, Fernando; Marti Serrano, Susana; Acosta Garcia, Silvia; Gaviria Gomez, Milena; Ney, Inti] Univ Rovira & Virgili, Pere Mata Grp, IISP, Child & Adolescent Mental Hlth Ctr, Tarragona, Spain.
RP Marin, AM (reprint author), Carretera Inst Pere Mata Sn, Tarragona 43206, Spain.
EM masanaa@peremata.com
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NR 26
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1087-0547
EI 1557-1246
J9 J ATTEN DISORD
JI J. Atten. Disord.
PD OCT
PY 2014
VL 18
IS 7
BP 594
EP 597
DI 10.1177/1087054712445066
PG 4
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AN8VJ
UT WOS:000340883000004
PM 22826511
ER
PT J
AU Altgassen, M
Kretschmer, A
Kliegel, M
AF Altgassen, Mareike
Kretschmer, Anett
Kliegel, Matthias
TI Task Dissociation in Prospective Memory Performance in Individuals With
ADHD
SO JOURNAL OF ATTENTION DISORDERS
LA English
DT Article
DE ADHD; adult; cognitive control; prospective memory
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; AUTISM SPECTRUM DISORDER; WORKING-MEMORY; ADULTS; CHILDREN;
MULTITASKING; INHIBITION; ABNORMALITIES; VALIDITY
AB Objective: The present study investigated, for the first time, event- and time-based prospective memory ( PM) in the same sample of adults with ADHD within one paradigm using parallel task constraints. Method: A total of 25 individuals with ADHD and 25 matched neurotypical controls completed a computerized version of the Dresden Breakfast Task, which required participants to prepare breakfast following a set of rules and time restrictions. Results: Although groups did not differ in event- based PM, results demonstrated a large-sized impairment in individuals with ADHD in time-based PM. Conclusion: Findings suggest a task-specific impairment in PM functioning and are discussed in an executive control framework of neurocognitive functioning in ADHD.
C1 [Altgassen, Mareike; Kretschmer, Anett; Kliegel, Matthias] Tech Univ Dresden, D-01062 Dresden, Germany.
[Kliegel, Matthias] Univ Geneva, CH-1211 Geneva 4, Switzerland.
RP Altgassen, M (reprint author), Tech Univ Dresden, Dept Psychol, D-01062 Dresden, Germany.
EM altgassen@psychologie.tu-dresden.de
RI Altgassen, Mareike/J-3048-2012
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NR 43
TC 2
Z9 2
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 OCT
PY 2014
VL 18
IS 7
BP 617
EP 624
DI 10.1177/1087054712445484
PG 8
WC Psychology, Developmental; Psychiatry
SC Psychology; Psychiatry
GA AN8VJ
UT WOS:000340883000007
PM 22660916
ER
PT J
AU Sosa-Diaz, N
Bringas, ME
Atzori, M
Flores, G
AF Sosa-Diaz, Nuvia
Elena Bringas, Maria
Atzori, Marco
Flores, Gonzalo
TI Prefrontal Cortex, Hippocampus, and Basolateral Amygdala Plasticity in a
Rat Model of Autism Spectrum
SO SYNAPSE
LA English
DT Article
DE valproic acid; prefrontal cortex; hippocampus; amygdala; cortical
thickness; autism
ID VALPROIC ACID; PRENATAL EXPOSURE; ANIMAL-MODEL; BEHAVIORAL ALTERATIONS;
DENDRITIC MORPHOLOGY; VENTRAL HIPPOCAMPUS; NUCLEUS-ACCUMBENS;
CONNECTIVITY; DISORDER; CHILDREN
AB We aimed to investigate the effect of prenatal administration of valproic acid (VPA) (500 mg/kg) at embryonic day 12.5 on the anatomical properties of the prefrontal cortex, hippocampus, and basolateral amygdala, at three different ages: immediately after weaning (postnatal day 21 [PD21]), prepubertal (PD35), and postpubertal (PD70) ages in a rat model of autistic spectrum disorder. Quantitative analysis of the thickness of the prefrontal cortex revealed a reduced size at all study ages in the cingulate 1 area of the prefrontal cortex and CA1 of the dorsal hippocampus in prenatally exposed animals compared to controls. At the level of the basolateral amygdala, a reduction in the size was observed at PD35 and PD70 in the VPA group. In addition, a reduced thickness was observed in the prelimbic region of the prefrontal cortex in VPA animals at PD35. Interestingly, no differences in cortical thickness were observed between control and VPA animals in the infralimbic region of the prefrontal at any age. Our results suggest that prenatal exposure to VPA differentially alters cortical limbic regions anatomical parameters, with implication in the autistic spectrum disorder. (C) 2014 Wiley Periodicals, Inc.
C1 [Sosa-Diaz, Nuvia; Elena Bringas, Maria; Flores, Gonzalo] Univ Autonoma Puebla, Inst Fisiol, Lab Neuropsiquiatria, Puebla 72570, Mexico.
[Atzori, Marco] Univ Autonoma San Luis Potosi, Fac Ciencias, San Luis Potosi, Mexico.
[Atzori, Marco] Univ Texas Dallas, Sch Behav & Brain Sci, Lab Synapt & Cellular Physiol, Richardson, TX 75083 USA.
RP Flores, G (reprint author), Univ Autonoma Puebla, Inst Fisiol, Lab Neuropsiquiatria, 14 Sur 6301, Puebla 72570, Mexico.
EM gonzaloflores56@gmail.com
FU VIEP-BUAP [FLAG-SAL14-Ind]; PROMEP [CA-BUAP-120]; CONACYT [129303,
138663]
FX Contract grant sponsor: VIEP-BUAP; Contract grant number:
FLAG-SAL14-Ind; Contract grant sponsor: PROMEP; Contract grant number:
CA-BUAP-120; Contract grant sponsor: CONACYT; Contract grant number:
129303, 138663.
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NR 39
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0887-4476
EI 1098-2396
J9 SYNAPSE
JI Synapse
PD OCT
PY 2014
VL 68
IS 10
BP 468
EP 473
DI 10.1002/syn.21759
PG 6
WC Neurosciences
SC Neurosciences & Neurology
GA AN6AV
UT WOS:000340676600005
PM 24985713
ER
PT J
AU Lilley, R
AF Lilley, Rozanna
TI Professional guidance: maternal negotiation of primary school placement
for children diagnosed with autism
SO DISCOURSE-STUDIES IN THE CULTURAL POLITICS OF EDUCATION
LA English
DT Article
DE autism; mothers; experts; professional guidance; inclusion; exclusion
AB This article explores the different forms of professional guidance negotiated by mothers as they search for a primary school placement for their child diagnosed with autism. The intensely contested terrain of whether segregated or 'regular' classrooms would be 'better' for the child shapes the contours of both professional guidance and maternal decision-making. Interviews with 22 women whose children were about to start primary school in Sydney, Australia, allows an exploration of the ways women engage with or reject professional guidance, offered by paediatricians, psychologists, early intervention professionals, and education providers. Mothers frequently received conflicting professional guidance, and felt conflicted about their schooling decisions, especially when students are labelled 'borderline'. Overall, recent suggestions of a democratisation of autism expertise are not supported by this research, which underlines the need to analyse both the agency of mothers and the power differentials that continue to exist between families and experts.
C1 Macquarie Univ, Inst Early Childhood, Children & Families Res Ctr, N Ryde, NSW, Australia.
RP Lilley, R (reprint author), Macquarie Univ, Inst Early Childhood, Children & Families Res Ctr, N Ryde, NSW, Australia.
EM roselilley@fastmail.fm
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Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0159-6306
EI 1469-3739
J9 DISCOURSE-ABINGDON
JI Discourse
PD OCT
PY 2014
VL 35
IS 4
BP 513
EP 526
DI 10.1080/01596306.2013.871226
PG 14
WC Education & Educational Research
SC Education & Educational Research
GA AM8MW
UT WOS:000340130900004
ER
PT J
AU Sandman, CA
Head, K
Muftuler, LT
Su, L
Buss, C
Davis, EP
AF Sandman, Curt A.
Head, Kevin
Muftuler, L. Tugan
Su, Lydia
Buss, Claudia
Davis, Elysia Poggi.
TI Shape of the basal ganglia in preadolescent children is associated with
cognitive performance
SO NEUROIMAGE
LA English
DT Article
DE Basal ganglia; Putamen; Intelligence; Shape; Volume; Performance
ID VOXEL-BASED MORPHOMETRY; AUTISM SPECTRUM DISORDER; CORTICAL DEVELOPMENT;
FUNCTIONAL-ANATOMY; HEALTHY-CHILDREN; CAUDATE; VOLUME; BRAIN;
SCHIZOPHRENIA; THICKNESS
AB Current studies support the belief that high levels of performance and intellectual abilities are associated with increased brain size or volume. With few exceptions, this conclusion is restricted to studies of post-adolescent subjects and to cerebral cortex. There is evidence that "bigger is better" may not pertain to children and further, that there are areas of the brain in which larger structures are associated with cognitive deficits. In 50 preadolescent children (21 girls) a structural survey of the brain (VBM) was conducted to determine and locate areas in which gray matter volume was associated with poor cognitive performance. Only increased gray matter volume in particular areas of the basal ganglia and specifically the putamen was significantly associated with poor performance on tests of memory, response speed and a general marker and subtests of intelligence. Based on the VBM findings, volumetric analysis of basal ganglia structures was performed using FSL/FIRST. However, no significant changes in total volume of putamen or other basal ganglia structures were detected with this analysis. The disagreement between measures of localized gray matter differences and volumetric analysis suggested that there might be local regional deformity rather than widespread volumetric changes of the putamen. Surface analysis with FSL/FIRST demonstrated that bilateral outward deformation of the putamen, but especially the left, was associated with poor performance on several cognitive tests. Expansion of the globus pallidus and caudate nucleus also was associated with poor performance. Moreover a significant association was detected between a reliable test of language-free intelligence and topographically distinct outward and inward deformation of the putamen. Expansion and contraction of the putamen as a predictor of intelligence may explain why this association was not observed with measures of total volume. These results suggest that deformity is a sensitive measure of function, and that distortion of the basal ganglia may be a neurophenotype for risk of developmental impairment (C) 2014 Elsevier Inc. All rights reserved.
C1 [Sandman, Curt A.; Head, Kevin; Buss, Claudia; Davis, Elysia Poggi.] Univ Calif Irvine, Dept Psychiat & Human Behav, Early Human & Lifespan Dev Program, Orange, CA 92866 USA.
[Muftuler, L. Tugan] Med Coll Wisconsin, Dept Neurosurg, Milwaukee, WI USA.
[Su, Lydia] Univ Calif Irvine, Dept Radiol Sci, Orange, CA 92866 USA.
[Buss, Claudia] Univ Calif Irvine, Dept Pediat, Orange, CA 92866 USA.
[Davis, Elysia Poggi.] Univ Denver, Denver, CO 80208 USA.
[Buss, Claudia] Charite, Charite Centrum Human & Gesundheitswissensch, Inst Med Psychol, Berlin, Germany.
RP Sandman, CA (reprint author), Univ Calif Irvine, Dept Psychiat & Human Behav, Early Human & Lifespan Dev Program, One Univ Dr, Orange, CA 92866 USA.
EM casandma@uci.edu
FU National Institute of Health [NS-41298, HD-51852, HD-28413, HD-50662,
HD-65823]
FX This research was supported by the National Institute of Health grants
NS-41298, HD-51852 and HD-28413 to CAS and HD-50662 and HD-65823 to EPD.
The funding agencies did not contribute to the design of the study,
collection of the data, analysis and interpretation of the data, and
writing of the report or decision to submit this manuscript for
publication. The authors have no actual or potential personal or other
relationships that could inappropriately influence this work. We are
grateful for the expert assistance of Kendra Leak, Cheryl Crippen, Megan
Blair, Christina Canino and Natalie Hernandez and to the families who
participated in our studies.
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NR 63
TC 2
Z9 2
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD OCT 1
PY 2014
VL 99
BP 93
EP 102
DI 10.1016/j.neuroimage.2014.05.020
PG 10
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA AM4XR
UT WOS:000339860000010
PM 24844741
ER
PT J
AU Reichow, B
Gelbar, NW
Mouradjian, K
Shefcyk, A
Smith, IC
AF Reichow, Brian
Gelbar, Nicholas W.
Mouradjian, Keri
Shefcyk, Allison
Smith, Isaac C.
TI Characteristics of international websites with information on
developmental disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Websites; Internet; Developmental disability; Autism; Autism spectrum
disorder; Down syndrome; Learning disability; Intellectual disability;
ADHD; Google; International
ID WORLD-WIDE-WEB; HEALTH INFORMATION; INTERNET; QUALITY; PARENTS;
CONSUMERS; SEARCH
AB The Internet often serves as a primary resource for individuals seeking health-related information, and a large and growing number of websites contain information related to developmental disabilities. This paper presents the results of an international evaluation of the characteristics and content of the top 10 ranked results (i.e., not including sponsored results - pay-per-click) returned when one of five terms related to developmental disabilities (i.e., ADHD, autism, down syndrome, learning disability, intellectual disability) was entered into one of six country specific Google online search engines (i.e., Australia (https://www.google.com.au), Canada (https://www.google.ca), Ireland (https://www.google.ie), New Zealand (https://www.google.co.nz), the United Kingdom (https://www.google.co.uk), and the United States (https://www.google.com)) on October 22, 2013. Collectively, we found that international consumers of websites related to developmental disabilities will encounter different websites with differing content and terminology, and should be critical consumers to ensure they locate the information they are seeking. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Reichow, Brian; Gelbar, Nicholas W.; Mouradjian, Keri; Shefcyk, Allison; Smith, Isaac C.] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil Communit, Farmington, CT USA.
RP Reichow, B (reprint author), 263 Farmington Ave,MC 6222, Farmington, CT 06030 USA.
EM reichow@uchc.edu
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NR 25
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2293
EP 2298
DI 10.1016/j.ridd.2014.05.028
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400005
PM 24952371
ER
PT J
AU Stuttard, L
Beresford, B
Clarke, S
Beecham, J
Todd, S
Bromley, J
AF Stuttard, Lucy
Beresford, Bryony
Clarke, Susan
Beecham, Jennifer
Todd, Samantha
Bromley, Jo
TI Riding the Rapids: Living with autism or disability-An evaluation of a
parenting support intervention for parents of disabled children
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Disability; Behaviour problems; Parent-training programme; Early
intervention; Prevention
ID MENTAL-HEALTH STATUS; RANDOMIZED CONTROLLED-TRIAL; STONES TRIPLE-P;
BEHAVIOR PROBLEMS; INTELLECTUAL DISABILITY; TRAINING INTERVENTIONS;
PSYCHOLOGICAL IMPACT; DEVELOPMENTAL DELAY; ECONOMIC-SITUATION; SPECTRUM
DISORDER
AB Evidence on the effectiveness of interventions to support parents of disabled children to manage their child's behaviour problems is limited. The aim of this study was to evaluate a group-delivered intervention (Riding the Rapids) which was specifically developed for parents of a child with a disability or autistic spectrum condition. This programme has been routinely delivered by a community-based mental health team across an urban, multi-ethnic locality for a number of years. A non-randomised controlled study design comprising an intervention group (n = 48) and comparator (no intervention) group (n = 28) was used to evaluate the effects of the intervention on child behaviour (Eyberg Child Behaviour Inventory: parent-set goals) and parenting efficacy and satisfaction (Parents Sense of Competence Scale) at post-intervention and six-month follow-up. Data on costs to the service provider of delivering the intervention were also collected. Receipt of the intervention was associated with significant reductions in parent-reported behaviour problems and significant improvements in parenting efficacy and satisfaction. At six-month follow-up, progress towards achieving parent-set child behaviour goals and parenting satisfaction had been maintained. Post hoc analysis suggests parents who do not have English as a first language may not benefit as much as other parents from this intervention. Findings suggest this is a promising intervention for parents of a child with a disability that is likely to be less resource intensive to service providers than individually delivered interventions. Limitations and implications for future research are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Stuttard, Lucy; Beresford, Bryony; Clarke, Susan] Univ York, Social Policy Res Unit, York YO10 5DD, N Yorkshire, England.
[Beecham, Jennifer] Univ Kent, Personal Social Serv Res Unit, Canterbury, Kent, England.
[Todd, Samantha; Bromley, Jo] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England.
RP Stuttard, L (reprint author), Univ York, Social Policy Res Unit, York YO10 5DD, N Yorkshire, England.
EM lucy.stuttard@york.ac.uk
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NR 53
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2371
EP 2383
DI 10.1016/j.ridd.2014.05.021
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400012
PM 24973545
ER
PT J
AU King, D
Dockrell, J
Stuart, M
AF King, Diane
Dockrell, Julie
Stuart, Morag
TI Constructing fictional stories: A study of story narratives by children
with autistic spectrum disorder
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Narrative; Language impairment; Storytelling
ID ASPERGER-SYNDROME; LANGUAGE IMPAIRMENTS; STORYTELLING ABILITY;
INDIVIDUALS; COMMUNICATION; IMAGINATION; ADULTS; MIND
AB Children with autistic spectrum disorder (ASD) are reported to have difficulties with narrative language but little is known about how this affects their production of fictional stories. In this study, we aimed to establish whether fictional narratives of children with ASD differed from those of typically developing children and if performance was commensurate with levels of oral language. Fictional stories produced by 27 high functioning children with ASD, aged 11-14 yrs, were compared with those of language and age matched groups of typically developing children. Differences were found between the children with ASD and comparison groups in structural, evaluative and global features of their stories indicating specific difficulties with this form of narrative. Stories of the ASD group were shorter and contained fewer causal statements than those of both comparison groups and sentences were less grammatically complex than those of the age match but not the language match group. In global measures, the stories of the ASD group were impoverished relative to both comparison groups. The results are discussed in relation to cognitive theories of autism and language development. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [King, Diane; Dockrell, Julie; Stuart, Morag] Univ London, Inst Educ, London WC1E 7HU, England.
RP King, D (reprint author), Univ London, Inst Educ, London WC1E 7HU, England.
EM d.king@nfer.ac.uk
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NR 49
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2438
EP 2449
DI 10.1016/j.ridd.2014.06.015
PG 12
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400019
PM 24981193
ER
PT J
AU Hauser, CT
Kover, ST
Abbeduto, L
AF Hauser, Claire T.
Kover, Sara T.
Abbeduto, Leonard
TI Maternal well-being and child behavior in families with fragile X
syndrome
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Fragile X syndrome; Mental health; Maternal outcomes; Child behavior
ID AUTISM SPECTRUM DISORDER; FMR1 PREMUTATION; YOUNG-CHILDREN; LIFE-STYLES;
MOTHERS; PHENOTYPE; STRESS; AGE; DISABILITIES; ADOLESCENTS
AB The purpose of this study was to examine the bidirectional relationships relationship between maternal mental health status, maternal stress, family environment and behavioral functioning of children with fragile X syndrome (FXS), the leading cause of inherited intellectual disability. Children with FXS commonly demonstrate challenging behavior related to anxiety, attention, and aggression, whereas mothers of children with FXS have been identified as susceptible to mental health challenges due to their status as genetic carriers of the FXS premutation, as well as the environmental stressors of raising children with special needs. The longitudinal design of this study builds upon prior work that established a concurrent relationship among these factors in families of children with other intellectual disorders. Findings indicated that maternal mental health status was not significantly related to changes in levels of child challenging behavior, heightened child challenging behavior was related to improvements in maternal depression over time, and heightened levels of child challenging behavior was related to increased feelings of maternal closeness toward the child over time. The unexpected nature of the results regarding maternal depression and closeness provides new and more complex hypotheses about how mothers of special needs children demonstrate adaptation and resilience. The findings have implications for maternal and familial mental health treatment as well as future research. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Hauser, Claire T.; Kover, Sara T.; Abbeduto, Leonard] Univ Wisconsin, Waisman Ctr, Madison, WI 53706 USA.
RP Abbeduto, L (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM leonard.abbeduto@ucdmc.ucdavis.edu
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NR 49
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2477
EP 2486
DI 10.1016/j.ridd.2014.06.012
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400022
PM 24984053
ER
PT J
AU Mahoney, EB
Breitborde, NJK
Leone, SL
Ghuman, JK
AF Mahoney, Emery B.
Breitborde, Nicholas J. K.
Leone, Sarah L.
Ghuman, Jaswinder Kaur
TI An examination of social interaction profiles based on the factors
measured by the Screen for Social Interaction
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Pervasive Developmental Disorder; Social; Screen for Social
Interaction
ID AUTISM SPECTRUM DISORDERS; RECEPTIVE LANGUAGE DISORDER; JOINT ATTENTION;
PRESCHOOL-CHILDREN; ADI-R; COMMUNICATION; DISABILITIES; DIAGNOSIS;
SKILLS; INDIVIDUALS
AB Deficits in the capacity to engage in social interactions are a core deficit associated with Autistic Disorder (AD) and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS). These deficits emerge at a young age, making screening for social interaction deficits and interventions targeted at improving capacity in this area important for early identification and intervention. Screening and early intervention efforts are particularly important given the poor short and long term outcomes for children with Autism Spectrum Disorders (ASDs) who experience social interaction deficits. The Screen for Social Interaction (SSI) is a well-validated screening measure that examines a child's capacity for social interaction using a developmental approach. The present study identified four underlying factors measured by the SSI, namely, Connection with Caregiver, Interaction/Imagination, Social Approach/Interest, and Agreeable Nature. The resulting factors were utilized to compare social interaction profiles across groups of children with AD, PDD-NOS, children with non-ASD developmental and/or psychiatric conditions and typically developing children. The results indicate that children with AD and those with PDD-NOS had similar social interaction profiles, but were able to be distinguished from typically developing children on every factor and were able to be distinguished from children with non-ASD psychiatric conditions on every factor except the Connection with Caregiver factor. In addition, children with non-ASD developmental and/or psychiatric conditions could be distinguished from typically developing children on the Connection with Caregiver factor and the Social Approach/Interest factor. These findings have implications for screening and intervention for children with ASDs and non-ASD psychiatric conditions. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mahoney, Emery B.] Univ Arizona, Dept Disabil & Psychoeduc Studies, Tucson, AZ 85721 USA.
[Breitborde, Nicholas J. K.] Univ Arizona, Med Ctr, Tucson, AZ 85721 USA.
[Leone, Sarah L.] Ohio State Univ, Nisonger Ctr, UAP, Columbus, OH 43210 USA.
[Ghuman, Jaswinder Kaur] Univ Arizona, Coll Med, Tucson, AZ 85721 USA.
[Ghuman, Jaswinder Kaur] Univ Pittsburgh, Med Ctr, Pittsburgh, PA 15260 USA.
RP Mahoney, EB (reprint author), Univ Arizona, Dept Disabil & Psychoeduc Studies, Tucson, AZ 85721 USA.
EM emerymahoney@gmail.com
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NR 39
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2487
EP 2494
DI 10.1016/j.ridd.2014.06.008
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400023
PM 24992448
ER
PT J
AU Jose, JC
Perez-Gonzalez, LA
AF Julio Carnerero, Jose
Antonio Perez-Gonzalez, Luis
TI Induction of naming after observing visual stimuli and their names in
children with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Naming; Pairing naming; Pairing; Emergence; Tacts; Picture selection;
Induction; Autism
ID YOUNG-CHILDREN; CONDITIONAL DISCRIMINATION; EQUIVALENCE-RELATIONS;
PRESCHOOL-CHILDREN; TRAINING PROCEDURE; LEARNING-SET; CATEGORIZATION;
LISTENER; BEHAVIOR; EMERGENCE
AB A novel procedure to induce pairing naming, considered the emergence of tacts and selection of pictures after observing names and its corresponding pictures without specific consequences, was probed in 4 persons with autism who lacked this capability with a multiple probe design across participants. Five pictures were selected per set. The participants observed the pictures on a computer screen while the experimenter said the name of the picture. Then, the emission of untaught uninstructed tacts of the pictures was tested without reinforcement. The cycle was repeated until a criterion of 90% correct responses was achieved. Thereafter, in probes without reinforcement, the participants tacted the pictures without specific instructions and also when asked to name them, and selected the correct picture upon hearing their names. The procedure was repeated with two additional stimulus sets and the probed relations emerged always. Two children showed the emergence with fewer trials across sets, which indicate emergence induction. Thus, the procedure served to test whether the pairing naming capability was missing and induced the capability. The results may have important utility in teaching persons diagnosed with autism and other learning difficulties and for accelerating learning in all children. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Julio Carnerero, Jose; Antonio Perez-Gonzalez, Luis] Ctr Almudaris, Cordoba, Spain.
[Julio Carnerero, Jose; Antonio Perez-Gonzalez, Luis] Univ Oviedo, Dept Psychol, Oviedo 33003, Spain.
RP Perez-Gonzalez, LA (reprint author), Univ Oviedo, Dept Psychol, Plaza Feijoo S-N, Oviedo 33003, Spain.
EM laperez@uniovi.es
RI Perez-Gonzalez, Luis/L-2338-2014
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NR 57
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2514
EP 2526
DI 10.1016/j.ridd.2014.06.004
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400026
ER
PT J
AU Roy, P
Chiat, S
AF Roy, P.
Chiat, S.
TI Developmental, pathways of language and social communication problems in
9-11 year olds: Unpicking the heterogeneity
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Language impairment; Social communication problems; Autistic spectrum
disorders; Social Emotional and behavioural difficulties; Developmental
trajectories; Follow-up study
ID AUTISM DIAGNOSTIC INTERVIEW; SPECTRUM DISORDERS; FOLLOW-UP; IMPAIRMENT;
CHILDREN; CLASSIFICATION; OUTCOMES; AGE; PSYCHOPATHOLOGY; RESPONSIVENESS
AB This paper addressed relations between language, social communication and behaviour, and their trajectories, in a sample of 9-11-year-olds (n = 91) who had been referred to clinical services with concerns about language as pre-schoolers. Children were first assessed at 21/2-4 years, and again 18 months later.
Results revealed increasing differentiation of profiles across time. By 9-11 years, 11% of the sample had social communication deficits, 27% language impairment, 20% both, and 42% neither. The size of group differences on key language and social communication measures was striking (2-3 standard deviations). Social communication deficits included autistic mannerisms and were associated with social, emotional and behavioural difficulties (SEBDs); in contrast, language impairment was associated with hyperactivity only. Children with both language and social communication problems had the most severe difficulties on all measures.
These distinct school-age profiles emerged gradually. Investigation of developmental trajectories revealed that the three impaired groups did not differ significantly on language or SEBD measures when the children were first seen. Only low performance on the Early Sociocognitive Battery, a new measure of social responsiveness, joint attention and symbolic understanding, differentiated the children with and without social communication problems at 9-11 years. These findings suggest that some children who first present with language delay or difficulties have undetected Autism Spectrum Disorders which may or may not be accompanied by language impairment in the longer term. This new evidence of developmental trajectories starting in the preschool years throws further light on the nature of social communication and language problems in school-age children, relations between language impairment and SEBDs, and on the nature of early language development. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Roy, P.; Chiat, S.] City Univ London, London EC1V 0HB, England.
RP Roy, P (reprint author), City Univ London, London EC1V 0HB, England.
EM p.j.roy@city.ac.uk
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NR 52
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD OCT
PY 2014
VL 35
IS 10
BP 2534
EP 2546
DI 10.1016/j.ridd.2014.06.014
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AM2UD
UT WOS:000339705400028
PM 25005063
ER
PT J
AU Choi, CS
Hong, M
Kim, KC
Kim, JW
Yang, SM
Seung, H
Ko, MJ
Choi, DH
You, JS
Shin, CY
Bahn, GH
AF Choi, Chang Soon
Hong, Minha
Kim, Ki Chan
Kim, Ji-Woon
Yang, Sung Min
Seung, Hana
Ko, Mee Jung
Choi, Dong-Hee
You, Jueng Soo
Shin, Chan Young
Bahn, Geon Ho
TI Effects of Atomoxetine on Hyper-Locomotive Activity of the Prenatally
Valproate-Exposed Rat Offspring
SO BIOMOLECULES & THERAPEUTICS
LA English
DT Article
DE Valproic acid; Autism; Hyperactivity; Norepinephrine transporter;
Atomoxetine
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY
DISORDER; PERVASIVE DEVELOPMENTAL DISORDERS; TRANSPORTER KNOCKOUT MICE;
AUTISM SPECTRUM DISORDERS; ANIMAL-MODEL; DOPAMINE TRANSPORTER;
PREFRONTAL CORTEX; PSYCHIATRIC-DISORDERS; GENE-EXPRESSION
AB A substantial proportion of patients with autism spectrum disorder (ASD) display hyperactivity as a comorbid symptom. Exposure to valproic acid (VPA) during pregnancy produces ASD-like core behavioral phenotypes as well as hyperactivity in offspring both in human and experimental animals, which makes it a plausible model to study ASD-related neurobiological processes. In this study, we examined the effects of two of currently available attention defecit hyperactivity disorder (ADHD) medications, methylphenidate (MPH) and atomoxetine (ATX) targeting dopamine and norepinephrine transporters (DAT and NET), respectively, on hyperactive behavior of prenatally VPA-exposed rat offspring. In the prefrontal cortex of VPA exposed rat offspring, both mRNA and protein expression of DAT was increased as compared with control. VPA function as a histone deacetylase inhibitor (HDACi) and chromatin immunoprecipitation experiments demonstrated that the acetylation of histone bound to DAT gene promoter was increased in VPA-exposed rat offspring suggesting epigenetic mechanism of DAT regulation. Similarly, the expression of NET was increased, possibly via increased histone acetylation in prefrontal cortex of VPA-exposed rat offspring. When we treated the VPA-exposed rat offspring with ATX, a NET selective inhibitor, hyperactivity was reversed to control level. In contrast, MPH that inhibits both DAT and NET, did not produce inhibitory effects against hyperactivity. The results suggest that NET abnormalities may underlie the hyperactive phenotype in VPA animal model of ASD. Profiling the pharmacological responsiveness as well as investigating underlying mechanism in multiple models of ASD and ADHD may provide more insights into the neurobiological correlates regulating the behavioral abnormalities.
C1 [Choi, Chang Soon; Kim, Ki Chan; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Choi, Dong-Hee; You, Jueng Soo; Shin, Chan Young] SMART Inst Adv Biomed Sci, Dept Neurosci, Seoul 143701, South Korea.
[Choi, Chang Soon; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Shin, Chan Young] SMART Inst Adv Biomed Sci, Neurosci Res Ctr, Seoul 143701, South Korea.
[Choi, Chang Soon; Kim, Ji-Woon; Yang, Sung Min; Seung, Hana; Ko, Mee Jung; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Adv Translat Med Sci, Seoul 143701, South Korea.
[Kim, Ki Chan] Seoul Natl Univ, Dept Pharmacol, Coll Pharm, Seoul 151742, South Korea.
[Hong, Minha] Dankook Univ Hosp, Sch Med, Dept Psychiat, Cheonan 330715, South Korea.
[Hong, Minha; Bahn, Geon Ho] Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul 130702, South Korea.
RP Bahn, GH (reprint author), Kyung Hee Univ, Sch Med, Dept Neuropsychiat, Seoul 130702, South Korea.
EM mompeian@khu.ac.kr
FU Korean Health Technology R&D Project, Ministry of Health & Welfare,
Republic of Korea [A120029]
FX The authors declare no conflict of interest. This work was supported by
a grant of the Korean Health Technology R&D Project, Ministry of Health
& Welfare, Republic of Korea (No. A120029).
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NR 50
TC 0
Z9 0
PU KOREAN SOC APPLIED PHARMACOLOGY
PI SEOUL
PA RM 805, KOREAN FEDERATION SCIENCE & TECHNOLOGY B/D, 635-4 YEOKSAM-DONG,
KANGNAM-GU, SEOUL, 135-703, SOUTH KOREA
SN 1976-9148
EI 2005-4483
J9 BIOMOL THER
JI Biomol. Ther.
PD SEP 30
PY 2014
VL 22
IS 5
BP 406
EP 413
DI 10.4062/biomolther.2014.027
PG 8
WC Biochemistry & Molecular Biology; Pharmacology & Pharmacy
SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy
GA AQ5NP
UT WOS:000342856200005
PM 25414770
ER
PT J
AU Joyal, CC
Jacob, L
Cigna, MH
Guay, JP
Renaud, P
AF Joyal, Christian C.
Jacob, Laurence
Cigna, Marie-Helene
Guay, Jean-Pierre
Renaud, Patrice
TI Virtual faces expressing emotions: an initial concomitant and construct
validity study
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE virtual; facial; expressions; emotions; validation
ID DYNAMIC FACIAL EXPRESSIONS; ELECTROMYOGRAPHIC ACTIVITY; RECOGNITION;
VALIDATION; RESPONSES; MIMICRY; AUTISM; SET; EMG; PSYCHOPATHY
AB Background: Facial expressions of emotions represent classic stimuli for the study of social cognition. Developing virtual dynamic facial expressions of emotions, however, would open-up possibilities, both for fundamental and clinical research. For instance, virtual faces allow real-time Human Computer retroactions between physiological measures and the virtual agent.
Objectives:The goal of this study was to initially assess concomitants and construct validity of a newly developed set of virtual faces expressing six fundamental emotions (happiness, surprise, anger, sadness, fear, and disgust). Recognition rates, facial electromyography (zygomatic major and corrugator supercilii muscles), and regional gaze fixation latencies (eyes and mouth regions) were compared in 41 adult volunteers (20 male, 21 female) during the presentation of video clips depicting real vs. virtual adults expressing emotions.
Results: Emotions expressed by each set of stimuli were similarly recognized, both by men and women. Accordingly, both sets of stimuli elicited similar activation of facial muscles and similar ocular fixation times in eye regions from man and woman participants.
Conclusion: Further validation studies can be performed with these virtual faces among clinical populations known to present social cognition difficulties. Brain Computer Interface studies with feedback-feedforward interactions based on facial emotion expressions can also be conducted with these stimuli.
C1 [Joyal, Christian C.; Jacob, Laurence] Univ Quebec Trois Rivieres, Dept Psychol, Trois Rivieres, PQ G9A 5H7, Canada.
[Joyal, Christian C.; Guay, Jean-Pierre; Renaud, Patrice] Philippe Pinel Inst Montreal, Res Ctr, Montreal, PQ, Canada.
[Cigna, Marie-Helene; Guay, Jean-Pierre] Univ Montreal, Dept Criminol, Montreal, PQ, Canada.
[Renaud, Patrice] Univ Quebec Outaouais, Dept Psychol, Gatineau, PQ, Canada.
RP Joyal, CC (reprint author), Univ Quebec Trois Rivieres, 3351 Boul Des Forges,CP 500, Trois Rivieres, PQ G9A 5H7, Canada.
EM christian.joyal@uqtr.ca
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NR 53
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD SEP 30
PY 2014
VL 8
AR 787
DI 10.3389/fnhum.2014.00787
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AP8PE
UT WOS:000342340100001
PM 25324768
ER
PT J
AU Ingalhalikar, M
Parker, WA
Bloy, L
Roberts, TPL
Verma, R
AF Ingalhalikar, Madhura
Parker, William A.
Bloy, Luke
Roberts, Timothy P. L.
Verma, Ragini
TI Creating multimodal predictors using missing data: Classifying and
subtyping autism spectrum disorder
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Magnetoencephalography; Diffusion tensor imaging; Autism spectrum
disorder; Pattern classification; Language impairment; Missing data
ID LANGUAGE IMPAIRMENT; WHITE-MATTER; HUMAN BRAIN; CLASSIFICATION;
BIOMARKER; BEHAVIOR
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by wide range of symptoms and severity including domains such as language impairment (LI). This study aims to create a quantifiable marker of ASD and a stratification marker for LI using multimodality imaging data that can handle missing data by including subjects that fail to complete all the aspects of a multimodality imaging study, obviating the need to remove subjects with incomplete data, as is done by conventional methods.
Methods: An ensemble of classifiers with several subsets of complete data is employed. The outputs from such subset classifiers are fused using a weighted aggregation giving an aggregate probabilistic score for each subject. Such fusion classifiers are created to obtain a marker for ASD and to stratify LI using three categories of features, two extracted from separate auditory tasks using magnetoencephalography (MEG) and the third extracted from diffusion tensor imaging (DTI).
Results: A clear distinction between ASD and neurotypical controls (5-fold accuracy of 83.3% and testing accuracy of 87%) and between ASD/+LI and ASD/-LI (5-fold accuracy of 70.1% and testing accuracy of 61.1%) was obtained. One of the MEG features, mismatch field (MMF) latency contributed the most to group discrimination, followed by DTI features from superior temporal white matter and superior longitudinal fasciculus as determined by feature ranking.
Comparison with existing methods: Higher classification accuracy was achieved in comparison with single modality classifiers.
Conclusion: This methodology can be readily applied in large studies where high percentage of missing data is expected. (C) 2014 Elsevier By. All rights reserved.
C1 [Ingalhalikar, Madhura; Parker, William A.; Verma, Ragini] Univ Penn, Dept Radiol, Sect Biomed Image Anal, Philadelphia, PA 19104 USA.
[Bloy, Luke; Roberts, Timothy P. L.] Childrens Hosp Philadelphia, Dept Radiol, Lurie Family Fdn MEG Imaging Ctr, Philadelphia, PA 19104 USA.
RP Ingalhalikar, M (reprint author), Dept Radiol, Sect Biomed Image Anal, 3600 Market St,Suite 380, Philadelphia, PA 19104 USA.
EM Madhura.Ingalhalikar@uphs.upenn.edu; William.Parker@uphs.upenn.edu;
Luke.Bloy@uphs.upenn.edu; robertstim@email.chop.edu;
Ragini.Verma@uphs.upenn.edu
FU NIH [R01-MH092862, R01-DC008871, P30-HD026979]; Macyszyn Fund for
Advances in Science
FX This research was supported by the NIH grants R01-MH092862 (RV),
R01-DC008871 (TR) and P30-HD026979 as well as the Macyszyn Fund for
Advances in Science. Dr. Roberts thanks the Oberkircher family for the
Oberkircher Family Chair in Pediatric Radiology. The authors would like
to thank Yasser Ghanbari for his participation in the discussions.
CR Alexander AL, 2007, NEUROIMAGE, V34, P61, DOI 10.1016/j.neuroimage.2006.08.032
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NR 34
TC 0
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD SEP 30
PY 2014
VL 235
BP 1
EP 9
DI 10.1016/j.jneumeth.2014.06.030
PG 9
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AP7PO
UT WOS:000342269400001
PM 24983132
ER
PT J
AU Bompard, L
Xu, S
Styner, M
Paniagua, B
Ahn, M
Yuan, Y
Jewells, V
Gao, W
Shen, DG
Zhu, HT
Lin, WL
AF Bompard, Lucile
Xu, Shun
Styner, Martin
Paniagua, Beatriz
Ahn, Mihye
Yuan, Ying
Jewells, Valerie
Gao, Wei
Shen, Dinggang
Zhu, Hongtu
Lin, Weili
TI Multivariate Longitudinal Shape Analysis of Human Lateral Ventricles
during the First Twenty-Four Months of Life
SO PLOS ONE
LA English
DT Article
ID BRAIN-DEVELOPMENT; PRETERM INFANTS; NEONATAL BRAIN; AUTISM; MRI;
SCHIZOPHRENIA; CHILDREN; VOLUME; SEGMENTATION; REGISTRATION
AB Background: Little is known about the temporospatial shape characteristics of human lateral ventricles (LVs) during the first two years of life. This study aimed to delineate the morphological growth characteristics of LVs during early infancy using longitudinally acquired MR images in normal healthy infants.
Methods: 24 healthy infants were MR imaged starting from 2 weeks old every 3 months during the first and every 6 months during the second year. Bilateral LVs were segmented and longitudinal morphological and shape analysis were conducted using longitudinal mixed effect models.
Results: A significant bilateral ventricular volume increase (p<0.0001) is observed in year one (Left: 126 +/- 51% and Right: 145 +/- 62%), followed by a significant reduction (p<0.02) during the second year of life (Left: -24 +/- 27% and Right: -20 +/- 18%) despite the continuing increase of intracranial volume. Morphological analysis reveals that the ventricular growth is spatially non-uniform, and that the most significant growth occurs during the first 6 months. The first 3 months of life exhibit a significant (p<0.01) bilateral lengthening of the anterior lateral ventricle and a significant increase of radius (p<0.01) and area (p<0.01) at the posterior portion of the ventricle. Shape analysis shows that the horns exhibit a faster growth rate than the mid-body. Finally, bilateral significant age effects (p<0.01) are observed for the growth of LVs whereas gender effects are more subtle and significant effects (p<0.01) only present at the left anterior and posterior horns. More importantly, both the age and gender effects are growth directionally dependent.
Conclusions: We have demonstrated the temporospatial shape growth characteristics of human LVs during the first two years of life using a unique longitudinal MR data set. A temporally and spatially non-uniform growth pattern was reported. These normative results could provide invaluable information to discern abnormal growth patterns in patients with neurodevelopmental disorders.
C1 [Bompard, Lucile; Gao, Wei; Shen, Dinggang; Zhu, Hongtu; Lin, Weili] Univ N Carolina, Biomed Res Imaging Ctr, Chapel Hill, NC 27599 USA.
[Xu, Shun; Styner, Martin; Paniagua, Beatriz] Univ N Carolina, Dept Comp Sci, Chapel Hill, NC USA.
[Styner, Martin; Paniagua, Beatriz] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Ahn, Mihye; Zhu, Hongtu] Univ N Carolina, Dept Biostat, Chapel Hill, NC USA.
[Yuan, Ying] St Jude Childrens Res Hosp, Dept Biostat, Memphis, TN 38105 USA.
[Jewells, Valerie; Gao, Wei; Shen, Dinggang; Lin, Weili] Univ N Carolina, Dept Radiol, Chapel Hill, NC USA.
RP Lin, WL (reprint author), Univ N Carolina, Biomed Res Imaging Ctr, Chapel Hill, NC 27599 USA.
EM weili_lin@med.unc.edu
FU National Institutes of Health (NIH) [R01NS055754, RR025747-01,
P01CA142538-01, MH086633, EB005149-01]
FX This work was supported in part by grants from the National Institutes
of Health (NIH): R01NS055754, RR025747-01, P01CA142538-01, MH086633 and
EB005149-01. 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 51
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 29
PY 2014
VL 9
IS 9
AR e108306
DI 10.1371/journal.pone.0108306
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AU6XR
UT WOS:000345745400064
PM 25265017
ER
PT J
AU Curatolo, P
Ben-Ari, Y
Bozzi, Y
Catania, MV
D'Angelo, E
Mapelli, L
Oberman, LM
Rosenmund, C
Cherubini, E
AF Curatolo, Paolo
Ben-Ari, Yehezkel
Bozzi, Yuri
Catania, Maria Vincenza
D'Angelo, Egidio
Mapelli, Lisa
Oberman, Lindsay M.
Rosenmund, Christian
Cherubini, Enrico
TI Synapses as therapeutic targets for autism spectrum disorders: an
international symposium held in Pavia on July 4th, 2014
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE ASDs; animal models; synapse; therapeutic target; GABAergic signaling
ID FRAGILE-X-SYNDROME; MUTANT MICE; NEUROLOGICAL DISORDERS; PATHOGENETIC
PATHWAYS; MOUSE MODEL; TRANSMISSION; DYSFUNCTION; INHIBITION; NUMBER;
CORTEX
AB New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled "synapses as therapeutic targets for autism spectrum disorders" (satellite of the FENS Forum for Neuroscience, Milan, 2014). In particular, world experts in the field have highlighted how animal models of ASDs have greatly advanced our understanding of the molecular pathways involved in synaptic dysfunction leading sometimes to "synaptic clinical trials" in children.
C1 [Curatolo, Paolo] Univ Roma Tor Vergata, Dept Neurosci, Pediat Neurolo Unit, Rome, Italy.
[Ben-Ari, Yehezkel] INSERM, Mediterranean Inst Neurobiol INMED, F-13258 Marseille, France.
[Bozzi, Yuri] Univ Trento, CNR, Ctr Integrat Biol CIBIO, Inst Neurosci, Trento, Italy.
[Bozzi, Yuri] Univ Trento, Lab Mol Neuropathol, Ctr Integrat Biol CIBIO, Trento, Italy.
[Catania, Maria Vincenza] CNR, Inst Neurol Sci ISN, Catania, Italy.
[Catania, Maria Vincenza] Ist Ricovero & Cura Carattere Sci Oasi Maria SS, Neurobiol Lab, Troina, Italy.
[D'Angelo, Egidio; Mapelli, Lisa] Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy.
[D'Angelo, Egidio] Neurol Inst Ist Ricovero & Cura Carattere Sci Mon, Brain Connect Ctr, Pavia, Italy.
[Oberman, Lindsay M.] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, Providence, RI 02912 USA.
[Rosenmund, Christian] Charite, Neurosci Res Ctr, D-13353 Berlin, Germany.
[Rosenmund, Christian] Charite, NeuroCure Cluster Excellence, D-13353 Berlin, Germany.
[Cherubini, Enrico] SISSA, Int Sch Adv Studies, I-34014 Trieste, Italy.
[Cherubini, Enrico] European Brain Res Inst, Rome, Italy.
RP Cherubini, E (reprint author), SISSA, Via Bonomea 265, I-34136 Trieste, Italy.
EM cher@sissa.it
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NR 31
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 29
PY 2014
VL 8
AR 309
DI 10.3389/fncel.2014.00309
PG 4
WC Neurosciences
SC Neurosciences & Neurology
GA AS7YY
UT WOS:000344469000001
PM 25324723
ER
PT J
AU Balconi, M
Vanutelli, ME
Finocchiaro, R
AF Balconi, Michela
Vanutelli, Maria Elide
Finocchiaro, Roberta
TI Multilevel analysis of facial expressions of emotion and script:
self-report (arousal and valence) and psychophysiological correlates
SO BEHAVIORAL AND BRAIN FUNCTIONS
LA English
DT Article
DE Facial expression of emotion; EMG; Valence; Psychophysiology
ID BRAIN POTENTIALS; CARDIAC RESPONSES; STARTLE REFLEX; FILM STIMULI;
CHILDREN; AUTISM; RECOGNITION; BEHAVIOR; MODULATION; GUIDELINES
AB Background: The paper explored emotion comprehension in children with regard to facial expression of emotion. The effect of valence and arousal evaluation, of context and of psychophysiological measures was monitored. Indeed subjective evaluation of valence (positive vs. negative) and arousal (high vs. low), and contextual (facial expression vs. facial expression and script) variables were supposed to modulate the psychophysiological responses.
Methods: Self-report measures (in terms of correct recognition, arousal and valence attribution) and psychophysiological correlates (facial electromyography, EMG, skin conductance response, SCR, and heart rate, HR) were observed when children (N = 26; mean age = 8.75 y; range 6-11 y) looked at six facial expressions of emotions (happiness, anger, fear, sadness, surprise, and disgust) and six emotional scripts (contextualized facial expressions). The competencies about the recognition, the evaluation on valence and arousal was tested in concomitance with psychophysiological variations. Specifically, we tested for the congruence of these multiple measures.
Results: Log-linear analysis and repeated measure ANOVAs showed different representations across the subjects, as a function of emotion. Specifically, children' recognition and attribution were well developed for some emotions (such as anger, fear, surprise and happiness), whereas some other emotions (mainly disgust and sadness) were less clearly represented. SCR, HR and EMG measures were modulated by the evaluation based on valence and arousal, with increased psychophysiological values mainly in response to anger, fear and happiness.
Conclusions: As shown by multiple regression analysis, a significant consonance was found between self-report measures and psychophysiological behavior, mainly for emotions rated as more arousing and negative in valence. The multilevel measures were discussed at light of dimensional attribution model.
C1 [Balconi, Michela; Vanutelli, Maria Elide; Finocchiaro, Roberta] Univ Catholic Sacro Cuore, Dept Psychol, Res Unit Affect & Social Neurosci, I-20123 Milan, Italy.
RP Balconi, M (reprint author), Univ Catholic Sacro Cuore, Dept Psychol, Res Unit Affect & Social Neurosci, Milan Largo Gemelli 1, I-20123 Milan, Italy.
EM michela.balconi@unicatt.it
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NR 61
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1744-9081
J9 BEHAV BRAIN FUNCT
JI Behav. Brain Funct.
PD SEP 26
PY 2014
VL 10
AR 32
DI 10.1186/1744-9081-10-32
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AS8GR
UT WOS:000344488400001
PM 25261242
ER
PT J
AU Lampen, J
Jones, K
McAuley, JD
Chang, SE
Wade, J
AF Lampen, Jennifer
Jones, Katherine
McAuley, J. Devin
Chang, Soo-Eun
Wade, Juli
TI Arrhythmic Song Exposure Increases ZENK Expression in Auditory Cortical
Areas and Nucleus Taeniae of the Adult Zebra Finch
SO PLOS ONE
LA English
DT Article
ID SOCIAL-BEHAVIOR NETWORK; GENE-EXPRESSION; CONTROL-SYSTEM; BASAL GANGLIA;
CAUDOMEDIAL NEOSTRIATUM; SEXUAL-DIFFERENTIATION; REARING ENVIRONMENT;
NEURAL MECHANISMS; GROWTH-FACTORS; HUMAN SPEECH
AB Rhythm is important in the production of motor sequences such as speech and song. Deficits in rhythm processing have been implicated in human disorders that affect speech and language processing, including stuttering, autism, and dyslexia. Songbirds provide a tractable model for studying the neural underpinnings of rhythm processing due to parallels with humans in neural structures and vocal learning patterns. In this study, adult zebra finches were exposed to naturally rhythmic conspecific song or arrhythmic song. Immunohistochemistry for the immediate early gene ZENK was used to detect neural activation in response to these two types of stimuli. ZENK was increased in response to arrhythmic song in the auditory association cortex homologs, caudomedial nidopallium (NCM) and caudomedial mesopallium (CMM), and the avian amygdala, nucleus taeniae (Tn). CMM also had greater ZENK labeling in females than males. The increased neural activity in NCM and CMM during perception of arrhythmic stimuli parallels increased activity in the human auditory cortex following exposure to unexpected, or perturbed, auditory stimuli. These auditory areas may be detecting errors in arrhythmic song when comparing it to a stored template of how conspecific song is expected to sound. CMM may also be important for females in evaluating songs of potential mates. In the context of other research in songbirds, we suggest that the increased activity in Tn may be related to the value of song for assessing mate choice and bonding or it may be related to perception of arrhythmic song as aversive.
C1 [Lampen, Jennifer; McAuley, J. Devin; Wade, Juli] Michigan State Univ, Neurosci Program, E Lansing, MI 48824 USA.
[Jones, Katherine; McAuley, J. Devin; Wade, Juli] Michigan State Univ, Dept Psychol, E Lansing, MI 48824 USA.
[Chang, Soo-Eun] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48109 USA.
RP Lampen, J (reprint author), Michigan State Univ, Neurosci Program, E Lansing, MI 48824 USA.
EM lampenje@msu.edu
FU GRAMMY Foundation; Michigan State University's program for Research in
Autism, Intellectual and Neurodevelopmental Disabilities (RAIND);
National Institutes of Health [R01-MH096705]
FX This work was supported by the GRAMMY Foundation, Michigan State
University's program for Research in Autism, Intellectual and
Neurodevelopmental Disabilities (RAIND), and National Institutes of
Health R01-MH096705. 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 89
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 26
PY 2014
VL 9
IS 9
AR e108841
DI 10.1371/journal.pone.0108841
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ3IP
UT WOS:000342685600103
PM 25259620
ER
PT J
AU Al-Zaid, FS
Alhader, AA
Al-Ayadhi, LY
AF Al-Zaid, Felwah S.
Alhader, AbdelFattah A.
Al-Ayadhi, Laila Y.
TI Altered ghrelin levels in boys with autism: a novel finding associated
with hormonal dysregulation
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LEPTIN LEVELS; ADIPONECTIN LEVELS; BODY-COMPOSITION; OBESE CHILDREN;
PLASMA LEPTIN; NORMAL-WEIGHT; SERUM-LEVELS; ADULTS; SEX; GH
AB Autism is a neurodevelopmental disorder with unclear pathogenesis. Many clinical observations and hormone studies have suggested the involvement of the neuroprotective hormone ghrelin in autism. The current study aimed to investigate the potential role of ghrelin in autism and to elucidate the associated hormonal dysregulation. This case-control study investigated acyl ghrelin (AG), des-acyl ghrelin (DG), total testosterone (TT), free testosterone (FT), leptin and growth hormone (GH) levels in 31 male children with autism and 28 healthy age and sex-matched controls. Hormone levels were measured in the blood using enzyme-linked immunosorbent assay and chemiluminescence immunoassay kits. AG, DG and GH levels were significantly lower in the autism group than in the control group (p <= 0.001, p <= 0.005 and p <= 0.05, respectively). However, TT, FT and leptin levels were significantly higher in the autism group than in the control group (p <= 0.05, p <= 0.001 and p <= 0.01, respectively). Our results for the first time demonstrate low AG and DG levels in autistic children. Considering the capacity of ghrelin to affect neuroinflammatory and apoptotic processes that are linked to autism, this study suggests a potential role for the hormone ghrelin in the pathogenesis of autism.
C1 [Al-Zaid, Felwah S.; Alhader, AbdelFattah A.; Al-Ayadhi, Laila Y.] King Saud Univ, Coll Med, Dept Physiol, Riyadh 11461, Saudi Arabia.
[Al-Zaid, Felwah S.; Al-Ayadhi, Laila Y.] King Saud Univ, Coll Med, AL Amodi Autism Res Chair, Autism Res & Treatment Ctr, Riyadh 11461, Saudi Arabia.
RP Al-Zaid, FS (reprint author), King Saud Univ, Coll Med, Dept Physiol, Riyadh 11461, Saudi Arabia.
EM D_fl329@hotmail.com
FU Autism Research and Treatment Center; Al-Amoudi Chair for Autism
Research at King Khalid Hospital, King Saud University, Riyadh, Saudi
Arabia; King Abdul Aziz City for Science and Technology (KACST);
National Plan for Science and Technology (NPST) at King Saud University;
central lab at KKHU
FX We give special thanks to the Autism Research and Treatment Center and
the Al-Amoudi Chair for Autism Research at King Khalid Hospital, King
Saud University, Riyadh, Saudi Arabia; King Abdul Aziz City for Science
and Technology (KACST); and the National Plan for Science and Technology
(NPST) at King Saud University for providing this work with the
necessary funds. We would also like to thank Mr. James Chu, Mrs. Evelyn
Donguines, Mr. Sahipa Sabirin, Mr. Rajeh Al-Mutairi and the central lab
at KKHU for their much-appreciated support during the laboratory portion
of this work. We would like to give very special thanks to Professor
Abduljaleel Abdulgader, the head of higher studies in the Physiology
Department, King Saud University, Riyadh, Saudi Arabia, for his
much-appreciated support and guidance.
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NR 38
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2045-2322
J9 SCI REP-UK
JI Sci Rep
PD SEP 26
PY 2014
VL 4
AR 6478
DI 10.1038/srep06478
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP8XA
UT WOS:000342361500002
PM 25257829
ER
PT J
AU Moreira, DP
Griesi-Oliveira, K
Bossolani-Martins, AL
Lourenco, NCV
Takahashi, VNO
da Rocha, KM
Moreira, ES
Vadasz, E
Meira, JGC
Bertola, D
O' Halloran, E
Magalhaes, TR
Fett-Conte, AC
Passos-Bueno, MR
AF Moreira, Danielle P.
Griesi-Oliveira, Karina
Bossolani-Martins, Ana L.
Lourenco, Naila C. V.
Takahashi, Vanessa N. O.
da Rocha, Katia M.
Moreira, Eloisa S.
Vadasz, Estevao
Castro Meira, Joanna Goes
Bertola, Debora
O' Halloran, Eoghan
Magalhaes, Tiago R.
Fett-Conte, Agnes C.
Passos-Bueno, Maria Rita
TI Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum
Disorder Brazilian Individuals with and without Epilepsy
SO PLOS ONE
LA English
DT Article
ID COPY NUMBER VARIANTS; COMPARATIVE-GENOMIC-HYBRIDIZATION;
MENTAL-RETARDATION; DELETION SYNDROME; CYTOGENETIC ABNORMALITIES;
PSYCHIATRIC-DISORDERS; INCOMPLETE PENETRANCE; CLINICAL-SIGNIFICANCE;
HUMAN-POPULATIONS; BREAKPOINTS 1
AB Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p < 0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.
C1 [Moreira, Danielle P.; Griesi-Oliveira, Karina; Lourenco, Naila C. V.; Takahashi, Vanessa N. O.; da Rocha, Katia M.; Moreira, Eloisa S.; Castro Meira, Joanna Goes; Bertola, Debora; Passos-Bueno, Maria Rita] Univ Sao Paulo, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Sao Paulo, Brazil.
[Bossolani-Martins, Ana L.; Fett-Conte, Agnes C.] Fac Med Sao Jose do Rio Preto, Dept Biol Mol, Sao Jose Do Rio Preto, SP, Brazil.
[Vadasz, Estevao] Univ Sao Paulo, Fac Med, Hosp Clin, Inst Psiquiatria, Sao Paulo, Brazil.
[Bertola, Debora] Univ Sao Paulo, Fac Med, Inst Crianca, Sao Paulo, Brazil.
[O' Halloran, Eoghan; Magalhaes, Tiago R.] Natl Univ Ireland Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin 4, Ireland.
[Magalhaes, Tiago R.] Our Ladys Childrens Hosp, Natl Childrens Res Ctr, Dublin, Ireland.
RP Passos-Bueno, MR (reprint author), Univ Sao Paulo, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Dept Genet & Biol Evolut, Sao Paulo, Brazil.
EM passos@ib.usp.br
FU FAPESP-INCT [2008/57899-7]; FAPESP-CEPID [2013/08028-1]; CNPq
FX Support was provided by FAPESP-INCT - grant number: 2008/57899-7;
FAPESP-CEPID - grant number: 2013/08028-1; CNPq [http://www.fapesp.br/].
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 88
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 25
PY 2014
VL 9
IS 9
AR e107705
DI 10.1371/journal.pone.0107705
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT3UZ
UT WOS:000344862300030
PM 25255310
ER
PT J
AU Potter, MC
Wozniak, KM
Callizot, N
Slusher, BS
AF Potter, Michelle C.
Wozniak, Krystyna M.
Callizot, Noelle
Slusher, Barbara S.
TI Glutamate Carboxypeptidase II Inhibition Behaviorally and
Physiologically Improves Pyridoxine-Induced Neuropathy in Rats
SO PLOS ONE
LA English
DT Article
ID N-ACETYLASPARTYLGLUTAMATE NAAG; PERIPHERAL NERVOUS-SYSTEM; THIOL-BASED
INHIBITORS; ISCHEMIC BRAIN-INJURY; SENSORY NEUROPATHY; NAALADASE
INHIBITION; DIABETIC-NEUROPATHY; GROWTH-FACTOR; PAIN MODEL; NEURONS
AB Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism. A significant neurologic complication of pyridoxine therapy is peripheral neuropathy thought to be a result of long-term and high dose usage. Although pyridoxine-induced neuropathy is transient and can remit after its withdrawal, the process of complete recovery can be slow. Glutamate carboxypeptidase II (GCP II) inhibition has been shown to improve symptoms of both chemotherapy-and diabetic-induced neuropathy. This study evaluated if GCP II inhibition could behaviorally and physiologically improve pyridoxine-induced neuropathy. In the current study, high doses of pyridoxine (400 mg/kg, twice a day for seven days) were used to induce neuropathy in rats. An orally bioavailable GCP II inhibitor, 2-(3-mercaptopropyl) pentanedioic acid (2-MPPA), was administered daily at a dose of 30 mg/kg starting from the onset of pyridoxine injections. Body weight, motor coordination, heat sensitivity, electromyographical (EMG) parameters and nerve morphological features were monitored. The results show beneficial effects of GCP II inhibition including normalization of hot plate reaction time, foot fault improvements and increased open field distance travelled. H wave frequency, amplitude and latency as well as sensory nerve conduction velocity (SNCV) were also significantly improved by 2-MPPA. Lastly, GCP II inhibition resulted in morphological protection in the spinal cord and sensory fibers in the lumbar region dorsal root ganglia (DRG). In conclusion, inhibition of GCP II may be beneficial against the peripheral sensory neuropathy caused by pyridoxine.
C1 [Potter, Michelle C.; Wozniak, Krystyna M.; Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21218 USA.
[Potter, Michelle C.; Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA.
[Slusher, Barbara S.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
[Callizot, Noelle] Neuro Sys, Dept Neuropharmacol, Gardanne, France.
RP Slusher, BS (reprint author), Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21218 USA.
EM bslusher@jhmi.edu
FU Eisai Inc.; National Institutes of Health [R01 - GCPII 90055369]; Johns
Hopkins Brain Science Institute
FX This work was supported by Eisai Inc.
(http://us.eisai.com/wps/wcm/connect/Eisai/Home/), National Institutes
of Health (www.NIH.gov) grant (R01 - GCPII 90055369) and the Johns
Hopkins Brain Science Institute (www.brainscienceinstitute.org). All
funding was received by BSS. 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 51
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 25
PY 2014
VL 9
IS 9
AR e102936
DI 10.1371/journal.pone.0102936
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AT3UZ
UT WOS:000344862300002
PM 25254647
ER
PT J
AU Tracey, MP
Koide, K
AF Tracey, Matthew P.
Koide, Kazunori
TI Development of a Sustainable Enrichment Strategy for Quantification of
Mercury Ions in Complex Samples at the Sub-Parts per Billion Level
SO INDUSTRIAL & ENGINEERING CHEMISTRY RESEARCH
LA English
DT Article
ID NATURAL-WATERS; INORGANIC MERCURY; HEAVY-METALS; METHYLMERCURY;
EXPOSURE; CHILDREN; AUTISM; PRECONCENTRATION; SPECTROMETRY; CONSUMPTION
AB To limit environmental exposure of mercury species, government bodies restrict emissions of various environmental mercury sources to sub-parts per billion (ppb) levels. Current methods for detection of mercury are time-consuming and expensive and suffer from many drawbacks. Optical methods are in principle less intensive but have not yet been implemented for real-world applications because of a lack of sufficient sensitivity and robustness. We previously reported a fluorometric method for quantifying mercury ions based on the oxymercuration of a vinyl ether with a detection limit of 1 ppb, not meeting the requirement by government bodies. To fill the gap between our previous method and the governments' restrictions, we have developed a method to enrich complex samples with mercury ions through the use of a recyclable thiol-based resin and the novel chemistry of mercury release. The combination of our previous fluorometric method and the new enrichment chemistry allowed the detection of 0.1 ppb mercury in a complex synthetic sample.
C1 [Tracey, Matthew P.; Koide, Kazunori] Univ Pittsburgh, Dept Chem, Pittsburgh, PA 15260 USA.
RP Koide, K (reprint author), Univ Pittsburgh, Dept Chem, 219 Parkman Ave, Pittsburgh, PA 15260 USA.
EM koide@pitt.edu
FU Nalco Company; National Science Foundation [CHE-0911092]
FX This research was funded by Nalco Company and the National Science
Foundation (CHE-0911092).
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NR 30
TC 0
Z9 0
PU AMER CHEMICAL SOC
PI WASHINGTON
PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA
SN 0888-5885
J9 IND ENG CHEM RES
JI Ind. Eng. Chem. Res.
PD SEP 24
PY 2014
VL 53
IS 38
BP 14565
EP 14570
DI 10.1021/ie502003f
PG 6
WC Engineering, Chemical
SC Engineering
GA AP8KR
UT WOS:000342328400002
ER
PT J
AU Prast, JM
Schardl, A
Schwarzer, C
Dechant, G
Saria, A
Zernig, G
AF Prast, Janine M.
Schardl, Aurelia
Schwarzer, Christoph
Dechant, Georg
Saria, Alois
Zernig, Gerald
TI Reacquisition of cocaine conditioned place preference and its inhibition
by previous social interaction preferentially affect D1-medium spiny
neurons in the accumbens corridor
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE cocaine; social interaction; conditioned place preference; accumbens;
septum; island of Calleja; diagonal band; D1 medium spiny neurons
ID DOPAMINE-RECEPTOR GENE; CUE-INDUCED REINSTATEMENT; MESSENGER-RNA
EXPRESSION; VENTRAL TEGMENTAL AREA; RAT NUCLEUS-ACCUMBENS; CHOLINERGIC
INTERNEURONS; PROJECTION PATTERNS; STRIATAL NEURONS; BASAL FOREBRAIN;
CALLEJA COMPLEX
AB We investigated if counterconditioning with dyadic (i.e., one-to-one) social interaction, a strong inhibitor of the subsequent reacquisition of cocaine conditioned place preference (CPP), differentially modulates the activity of the diverse brain regions oriented along a mediolateral corridor reaching from the interhemispheric sulcus to the anterior commissure, i.e., the nucleus of the vertical limb of the diagonal band, the medial septal nucleus, the major island of Calleja, the intermediate part of the lateral septal nucleus, and the medial accumbens shell and core. We also investigated the involvement of the lateral accumbens core and the dorsal caudate putamen. The anterior cingulate 1 (Cg1) region served as a negative control. Contrary to our expectations, we found that all regions of the accumbens corridor showed increased expression of the early growth response protein 1 (EGR1, Zif268) in rats 2 h after reacquisition of CPP for cocaine after a history of cocaine CPP acquisition and extinction. Previous counterconditioning with dyadic social interaction inhibited both the reacquisition of cocaine CPP and the activation of the whole accumbens corridor. EGR1 activation was predominantly found in dynorphin-labeled cells, i.e., presumably D1 receptor-expressing medium spiny neurons (D1-MSNs), with D2-MSNs (immunolabeled with an anti-DRD2 antibody) being less affected. Cholinergic interneurons or GABAergic interneurons positive for parvalbumin, neuropeptide Y or calretinin were not involved in these CPP-related EGR1 changes. Glial cells did not show any EGR1 expression either. The present findings could be of relevance for the therapy of impaired social interaction in substance use disorders, depression, psychosis, and autism spectrum disorders
C1 [Prast, Janine M.; Schardl, Aurelia; Saria, Alois; Zernig, Gerald] Med Univ Innsbruck, Expt Psychiat Unit, A-6020 Innsbruck, Austria.
[Schwarzer, Christoph] Med Univ Innsbruck, Dept Pharmacol, A-6020 Innsbruck, Austria.
[Dechant, Georg] Med Univ Innsbruck, Inst Neurosci, A-6020 Innsbruck, Austria.
[Zernig, Gerald] Leopold Franzens Univ Innsbruck, Dept Psychol, Innsbruck, Austria.
RP Zernig, G (reprint author), Med Univ Innsbruck, Expt Psychiat Unit, Innrain 66a, A-6020 Innsbruck, Austria.
EM gerald.zernig@i-med.ac.at
FU Austrian Science Fund (FWF) [W1206-B18, P26248-B24]; Verein for
Experimentelle Psychiatrie, Psychotherapie, und Pharmakologie (VEPPP)
FX This work was supported by the Austrian Science Fund (FWF) grants
W1206-B18 and P26248-B24 and by the Verein for Experimentelle
Psychiatrie, Psychotherapie, und Pharmakologie (VEPPP). We thank Dr.
Francesco Ferraguti and Dr. Rana El Rawas for discussing our
experimental findings and Andreas Abentung for helping with the confocal
microscopy.
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NR 86
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD SEP 24
PY 2014
VL 8
AR 317
DI 10.3389/fnbeh.2014.00317
PG 13
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AP4MG
UT WOS:000342050500001
PM 25309368
ER
PT J
AU Libertus, K
Landa, RJ
AF Libertus, Klaus
Landa, Rebecca J.
TI Scaffolded reaching experiences encourage grasping activity in infants
at high risk for autism
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE infancy; motor development; grasping; sticky mittens; autism spectrum
disorders
ID GROSS MOTOR DEVELOPMENT; SPECTRUM DISORDERS; 3-MONTH-OLD INFANTS;
PRETERM INFANTS; BABY SIBLINGS; CHILDREN; COMMUNICATION; IMPAIRMENT;
PERCEPTION; CHILDHOOD
AB Recent findings suggest impaired motor skill development during infancy in children later diagnosed with autism spectrum disorders (ASD). However, it remains unclear whether infants at high familial risk for ASD would benefit from early interventions targeting the motor domain. The current study investigated this issue by providing 3-month-old infants at high familial risk for ASD with training experiences aimed at facilitating independent reaching. A group of 17 high-risk (HR) infants received 2 weeks of scaffolded reaching experiences using "sticky mittens," and was compared to 72 low-risk (LR) infants experiencing the same or alternative training procedures. Results indicate that HR infants just like LR infants show an increase in grasping activity following "sticky mittens" training. In contrast to LR infants, evidence that motor training encouraged a preference for faces in HR infants was inconclusive.
C1 [Libertus, Klaus] Univ Pittsburgh, Learning Res & Dev Ctr, Pittsburgh, PA 15260 USA.
[Libertus, Klaus; Landa, Rebecca J.] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD USA.
RP Libertus, K (reprint author), Univ Pittsburgh, Learning Res & Dev Ctr, 3939 OHara St, Pittsburgh, PA 15260 USA.
EM klaus.libertus@gmail.com
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NR 50
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 23
PY 2014
VL 5
AR 1071
DI 10.3389/fpsyg.2014.01071
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AP3KU
UT WOS:000341975700001
PM 25295021
ER
PT J
AU Schore, AN
AF Schore, Allan N.
TI Early interpersonal neurobiological assessment of attachment and
autistic spectrum disorders
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE attachment; autism; interpersonal neurobiology; early intervention;
right brain
ID MEDIAL PREFRONTAL CORTEX; RIGHT BRAIN-DEVELOPMENT; INFANT MENTAL-HEALTH;
HEMISPHERIC LATERALIZATION; DEVELOPMENTAL NEUROSCIENCE; RELATIONAL
TRAUMA; RIGHT AMYGDALA; RIGHT INSULA; CHILDREN; STRESS
AB There is now a strong if not urgent call in both the attachment and autism literatures for updated, research informed, clinically relevant interventions that can more effectively assess the mother infant dyad during early periods of brain plasticity. In this contribution I describe my work in regulation theory, an overarching interpersonal neurobiological model of the development, psychopathogenesis, and treatment of the early forming subjective self system. The theory models the psychoneurobiological mechanisms by which early rapid, spontaneous and thereby implicit emotionally laden attachment communications indelibly impact the experience-dependent maturation of the right brain, the emotional brain. Reciprocal right-lateralized visual-facial, auditory-prosodic, and tactile-gestural non-verbal communications lie at the psychobiological core of the emotional attachment bond between the infant and primary caregiver. These affective communications can in turn be interactively regulated by the primary caregiver, thereby expanding the infants developing right brain regulatory systems. Regulated and dysregulated bodily based communications can be assessed in order to determine the ongoing status of both the infants emotional and social development as well as the quality and efficiency of the infant-mother attachment relationship. I then apply the model to the assessment of early stages of autism. Developmental neurobiological research documents significant alterations of the early developing right brain in autistic infants and toddlers, as well profound attachment failures and intersubjective deficits in autistic infantmother dyads. Throughout I offer implications of the theory for clinical assessment models. This work suggests that recent knowledge of the social and emotional functions of the early developing right brain may not only bridge the attachment and autism worlds, but facilitate more effective attachment and autism models of early intervention.
C1 Univ Calif Los Angeles, David Geffen Sch Med, Northridge, CA 91330 USA.
RP Schore, AN (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, 9817 Sylvia Ave, Northridge, CA 91330 USA.
EM anschore@aol.com
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NR 100
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 23
PY 2014
VL 5
DI 10.3389/fpsyg.2014.01049
PG 13
WC Psychology, Multidisciplinary
SC Psychology
GA AP3KL
UT WOS:000341974700001
PM 25339916
ER
PT J
AU Carcea, I
Patil, SB
Robison, AJ
Mesias, R
Huntsman, MM
Froemke, RC
Buxbaum, JD
Huntley, GW
Benson, DL
AF Carcea, Ioana
Patil, Shekhar B.
Robison, Alfred J.
Mesias, Roxana
Huntsman, Molly M.
Froemke, Robert C.
Buxbaum, Joseph D.
Huntley, George W.
Benson, Deanna L.
TI Maturation of cortical circuits requires Semaphorin 7A
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE E/I balance; critical period; EPSPs; IPSPs; thalamocortical
ID DEVELOPING VISUAL-CORTEX; LONG-TERM POTENTIATION; BARREL CORTEX;
N-CADHERIN; EXPRESSION PATTERNS; NEURAL DEVELOPMENT; MOUSE; PLASTICITY;
NEURONS; INTERNEURONS
AB Abnormal cortical circuits underlie some cognitive and psychiatric disorders, yet the molecular signals that generate normal cortical networks remain poorly understood. Semaphorin 7A (Sema7A) is an atypical member of the semaphorin family that is GPI-linked, expressed principally postnatally, and enriched in sensory cortex. Significantly, SEMA7A is deleted in individuals with 15q24 microdeletion syndrome, characterized by developmental delay, autism, and sensory perceptual deficits. We studied the role that Sema7A plays in establishing functional cortical circuitry in mouse somatosensory barrel cortex. We found that Sema7A is expressed in spiny stellate cells and GABAergic interneurons and that its absence disrupts barrel cytoarchitecture, reduces asymmetrical orientation of spiny stellate cell dendrites, and functionally impairs thalamocortically evoked synaptic responses, with reduced feed-forward GABAergic inhibition. These data identify Sema7A as a regulator of thalamocortical and local circuit development in layer 4 and provide a molecular handle that can be used to explore the coordinated generation of excitatory and inhibitory cortical circuits.
C1 [Carcea, Ioana; Patil, Shekhar B.; Robison, Alfred J.; Mesias, Roxana; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Carcea, Ioana; Patil, Shekhar B.; Robison, Alfred J.; Mesias, Roxana; Buxbaum, Joseph D.; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Carcea, Ioana; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr, New York, NY 10029 USA.
[Carcea, Ioana; Buxbaum, Joseph D.; Huntley, George W.; Benson, Deanna L.] Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA.
[Huntsman, Molly M.] Univ Colorado, Dept Pharmaceut Sci, Aurora, CO 80045 USA.
[Huntsman, Molly M.] Univ Colorado, Dept Pediat, Aurora, CO 80045 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Otolaryngol, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Physiol, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Carcea, Ioana; Froemke, Robert C.] NYU, Dept Neurosci, Helen & Martin Kimmel Ctr Biol & Med, Sch Med,Skirball Inst Biomol Med,Mol Neurobiol Pr, New York, NY 10016 USA.
[Robison, Alfred J.] Michigan State Univ, Dept Physiol, E Lansing, MI 48824 USA.
RP Huntley, GW (reprint author), Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
EM george.huntley@mssm.edu; deanna.benson@mssm.edu
FU National Institutes of Health (National Institute of Mental Health);
National Institutes of Health (National Institute of Neurological
Disorders and Stroke); Simons Foundation
FX We thank Amrita Ramesh, Sania Khalid, and Steven Mortillo for their
outstanding technical contributions to this project and James D'Amour
for assistance with this project. This study was funded by the National
Institutes of Health (National Institute of Mental Health and National
Institute of Neurological Disorders and Stroke) and the Simons
Foundation. I. C. was a Beatrice and Samuel A. Seaver Foundation
Postdoctoral Fellow.
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NR 47
TC 0
Z9 0
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD SEP 23
PY 2014
VL 111
IS 38
BP 13978
EP 13983
DI 10.1073/pnas.1408680111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP3PC
UT WOS:000341988200069
PM 25201975
ER
PT J
AU Picard, M
Zhang, JW
Hancock, S
Derbeneva, O
Golhar, R
Golik, P
O'Hearn, S
Levy, S
Potluri, P
Lvova, M
Davila, A
Lin, CS
Perin, JC
Rappaport, EF
Hakonarson, H
Trounce, IA
Procaccio, V
Wallace, DC
AF Picard, Martin
Zhang, Jiangwen
Hancock, Saege
Derbeneva, Olga
Golhar, Ryan
Golik, Pawel
O'Hearn, Sean
Levy, Shawn
Potluri, Prasanth
Lvova, Maria
Davila, Antonio
Lin, Chun Shi
Perin, Juan Carlos
Rappaport, Eric F.
Hakonarson, Hakon
Trounce, Ian A.
Procaccio, Vincent
Wallace, Douglas C.
TI Progressive increase in mtDNA 3243A > G heteroplasmy causes abrupt
transcriptional reprogramming
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE RNA-Seq; mitochondrial disease; mtDNA variant; epigenetic; electron
microscopy
ID MITOCHONDRIAL-DNA MUTATIONS; GENE-EXPRESSION; RETT-SYNDROME;
HUMAN-CELLS; DISEASE; MELAS; METHYLATION; MODEL; ABNORMALITIES;
PLURIPOTENT
AB Variation in the intracellular percentage of normal and mutant mitochondrial DNAs (mtDNA) (heteroplasmy) can be associated with phenotypic heterogeneity in mtDNA diseases. Individuals that inherit the common disease-causing mtDNA tRNA(Leu(UUR)) 3243A>G mutation and harbor similar to 10-30% 3243G mutant mtDNAs manifest diabetes and occasionally autism; individuals with similar to 50-90% mutant mtDNAs manifest encephalomyopathies; and individuals with similar to 90-100% mutant mtDNAs face perinatal lethality. To determine the basis of these abrupt phenotypic changes, we generated somatic cell cybrids harboring increasing levels of the 3243G mutant and analyzed the associated cellular phenotypes and nuclear DNA (nDNA) and mtDNA transcriptional profiles by RNA sequencing. Small increases in mutant mtDNAs caused relatively modest defects in oxidative capacity but resulted in sharp transitions in cellular phenotype and gene expression. Cybrids harboring 20-30% 3243G mtDNAs had reduced mtDNA mRNA levels, rounded mitochondria, and small cell size. Cybrids with 50-90% 3243G mtDNAs manifest induction of glycolytic genes, mitochondrial elongation, increased mtDNA mRNA levels, and alterations in expression of signal transduction, epigenomic regulatory, and neurodegenerative disease-associated genes. Finally, cybrids with 100% 3243G experienced reduced mtDNA transcripts, rounded mitochondria, and concomitant changes in nuclear gene expression. Thus, striking phase changes occurred in nDNA and mtDNA gene expression in response to the modest changes of the mtDNA 3243G mutant levels. Hence, a major factor in the phenotypic variation in heteroplasmic mtDNA mutations is the limited number of states that the nucleus can acquire in response to progressive changes in mitochondrial retrograde signaling.
C1 [Picard, Martin; Derbeneva, Olga; Potluri, Prasanth; Lvova, Maria; Davila, Antonio; Lin, Chun Shi; Wallace, Douglas C.] Univ Penn, Childrens Hosp Philadelphia, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA.
[Picard, Martin; Derbeneva, Olga; Potluri, Prasanth; Lvova, Maria; Davila, Antonio; Lin, Chun Shi; Wallace, Douglas C.] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA.
[Zhang, Jiangwen] Univ Hong Kong, Sch Biol Sci, Hong Kong, Hong Kong, Peoples R China.
[Hancock, Saege; Hakonarson, Hakon] Trovagene, San Diego, CA 92130 USA.
[Golhar, Ryan] Childrens Hosp Philadelphia, Ctr Appl Genom, Div Genet, Dept Pediat, Philadelphia, PA 19104 USA.
[Perin, Juan Carlos; Rappaport, Eric F.] Childrens Hosp Philadelphia, Nucle Acid Prot Res Core Facil, Philadelphia, PA 19104 USA.
[Golik, Pawel] Warsaw Univ, Inst Genet & Biotechnol, PL-00927 Warsaw, Poland.
[O'Hearn, Sean] Sinai Hosp, Morton Mower Cent Res Lab, Baltimore, MD 21215 USA.
[Levy, Shawn] HudsonAlpha Inst Biotechnol, Genom Sevices Lab, Huntsville, AL 35806 USA.
[Trounce, Ian A.] Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, East Melbourne, Vic 3002, Australia.
[Procaccio, Vincent] CHU Angers, Dept Biochem & Genet, Natl Ctr Neurodegenerat & Mitochondrial Dis, F-49933 Angers, France.
RP Wallace, DC (reprint author), Univ Penn, Childrens Hosp Philadelphia, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA.
EM wallaced1@email.chop.edu
FU Simon Foundation [205844]; National Institutes of Health [NS21328,
NS070298, AG24373, DK73691]; Canadian Institute of Health Research
Institute of Neuroscience as part of the Canadian Epigenetics,
Environment, and Health Research Consortium
FX The authors thank Katelyn Sweeney and the University of Pennsylvania EM
Core Facilities for technical assistance on parts of this project. This
work was supported by Simon Foundation Grant 205844 and by National
Institutes of Health Grants NS21328, NS070298, AG24373, and DK73691 (to
D. C. W.). M. P. is supported by a postdoctoral fellowship from the
Canadian Institute of Health Research Institute of Neuroscience as part
of the Canadian Epigenetics, Environment, and Health Research
Consortium.
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NR 51
TC 4
Z9 5
PU NATL ACAD SCIENCES
PI WASHINGTON
PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
SN 0027-8424
J9 P NATL ACAD SCI USA
JI Proc. Natl. Acad. Sci. U. S. A.
PD SEP 23
PY 2014
VL 111
IS 38
BP E4033
EP E4042
DI 10.1073/pnas.1414028111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AP3PC
UT WOS:000341988200012
PM 25192935
ER
PT J
AU Parr, LA
AF Parr, Lisa A.
TI Intranasal oxytocin enhances socially-reinforced learning in rhesus
monkeys
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE oxytocin; social reward; learning; monkey; autism; facial expressions;
emotion
ID MACACA-MULATTA; AUTISM; MACAQUES; HUMANS; BRAIN; FACE; DISORDERS;
BEHAVIORS; VALENCE; MEMORY
AB There are currently no drugs approved for the treatment of social deficits associated with autism spectrum disorders (ASD). One hypothesis for these deficits is that individuals with ASD lack the motivation to attend to social cues because those cues are not implicitly rewarding. Therefore, any drug that could enhance the rewarding quality of social stimuli could have a profound impact on the treatment of ASD, and other social disorders. Oxytocin (OT) is a neuropeptide that has been effective in enhancing social cognition and social reward in humans. The present study examined the ability of OT to selectively enhance learning after social compared to nonsocial reward in rhesus monkeys, an important species for modeling the neurobiology of social behavior in humans. Monkeys were required to learn an implicit visual matching task after receiving either intranasal (IN) OT or Placebo (saline). Correct trials were rewarded with the presentation of positive and negative social (play faces/threat faces) or nonsocial (banana/cage locks) stimuli, plus food. Incorrect trials were not rewarded. Results demonstrated a strong effect of socially-reinforced learning, monkeys performed significantly better when reinforced with social vs. nonsocial stimuli. Additionally, socially-reinforced learning was significantly better and occurred faster after IN-OT compared to placebo treatment. Performance in the IN-OT, but not Placebo, condition was also significantly better when the reinforcement stimuli were emotionally positive compared to negative facial expressions. These data support the hypothesis that OT may function to enhance prosocial behavior in primates by increasing the rewarding quality of emotionally positive, social compared to emotionally negative or nonsocial images. These data also support the use of the rhesus monkey as a model for exploring the neurobiological basis of social behavior and its impairment.
C1 [Parr, Lisa A.] Emory Univ, Ctr Translat Social Neurosci, Dept Psychiat & Behav Sci, Atlanta, GA 30329 USA.
[Parr, Lisa A.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30329 USA.
RP Parr, LA (reprint author), Emory Univ, Ctr Translat Social Neurosci, Dept Psychiat & Behav Sci, 954 Gatewood Rd, Atlanta, GA 30329 USA.
EM lparr@emory.edu
FU National Center for Research Resources [P51RR000165]; Office of Research
Infrastructure Programs/OD [P51OD011132]; [R01MH068791]; [K02MH096084]
FX This project was funded by R01MH068791 and K02MH096084 to Lisa A. Parr.
Additional support was provided by the National Center for Research
Resources P51RR000165 to the Yerkes National Primate Research Center,
currently the Office of Research Infrastructure Programs/OD P51OD011132.
Thanks to Erin Siebert and Lauren Murphy for animal assistance, and Dr.
Hasse Walum for comments on a previous version of this manuscript.
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NR 39
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD SEP 23
PY 2014
VL 8
AR 278
DI 10.3389/fnbeh.2014.00278
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AP4FB
UT WOS:000342031500001
ER
PT J
AU Eapen, V
Woolfenden, S
Williams, K
Jalaludin, B
Dissanayake, C
Axelsson, EL
Murphy, E
Eastwood, J
Descallar, J
Beasley, D
Crncec, R
Short, K
Silove, N
Einfeld, S
Prior, M
AF Eapen, Valsamma
Woolfenden, Susan
Williams, Katrina
Jalaludin, Bin
Dissanayake, Cheryl
Axelsson, Emma L.
Murphy, Elisabeth
Eastwood, John
Descallar, Joseph
Beasley, Deborah
Crncec, Rudi
Short, Katherine
Silove, Natalie
Einfeld, Stewart
Prior, Margot
TI "Are you available for the next 18 months?"-methods and aims of a
longitudinal birth cohort study investigating a universal developmental
surveillance program: the 'Watch Me Grow' study
SO BMC PEDIATRICS
LA English
DT Article
DE Child Development Disorders; Surveillance; Screening; Children;
Preschool
ID HEALTH-CARE; CHILDREN; DISORDERS; CHALLENGES; TODDLERS; INFANTS; AUTISM
AB Background: Universal developmental surveillance programs aimed at early identification and targeted early intervention significantly improve short-and long-term outcomes in children at risk of developmental disorders. However, a significant challenge remains in providing sufficiently rigorous research and robust evidence to inform policy and service delivery. This paper describes the methods of the 'Watch Me Grow' study that aims to maximise accurate early detection of children with developmental disorders through a partnership formed between policy makers, service providers and researchers.
Methods/Design: A mixed methods study design was developed consisting of: (1) a qualitative study of parents and health service providers to investigate barriers and enablers of developmental surveillance; (2) recruitment of a birth cohort and their longitudinal follow-up to 18 months of age to: a) assess risk factors for not accessing existing developmental surveillance programs and b) estimate the prevalence of children identified with developmental risk; (3) comparison of surveillance outcomes with a reference standard at 18 months of age to assess the diagnostic test accuracy of existing and alternative developmental surveillance tools; and (4) comparison of developmental surveillance models to inform policy recommendations. Data linkage will be used to determine the uptake and representativeness of the study participant group versus non-participants.
Discussion: The Watch Me Grow study is expected to provide a collaborative opportunity to enhance universal developmental surveillance for early accurate identification of developmental risk. This will also provide quality evidence about identification of developmental risk and access to services to be embedded in existing practice with linkages to policy development.
C1 [Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi] Acad Unit Child Psychiat South Western Sydney Loc, Sydney, NSW, Australia.
[Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi; Silove, Natalie] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Eapen, Valsamma; Axelsson, Emma L.; Crncec, Rudi; Silove, Natalie] Univ New S Wales, Ingham Inst, Sydney, NSW, Australia.
[Eapen, Valsamma; Jalaludin, Bin; Axelsson, Emma L.; Eastwood, John; Descallar, Joseph; Short, Katherine] Ingham Inst Appl Med Res, Sydney, NSW, Australia.
[Woolfenden, Susan; Silove, Natalie] Sydney Childrens Hosp Network, Sydney, NSW, Australia.
[Woolfenden, Susan; Short, Katherine] Univ New S Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.
[Williams, Katrina] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia.
[Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia.
[Williams, Katrina] Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Jalaludin, Bin] Sydney & South Western Sydney Local Hlth Dist, Ctr Res Evidence Management & Surveillance, Sydney, NSW, Australia.
[Jalaludin, Bin] Univ New S Wales, Sch Publ Hlth & Community Med, Sydney, NSW, Australia.
[Dissanayake, Cheryl] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Murphy, Elisabeth; Beasley, Deborah] NSW Kids & Families NSW Hlth, Sydney, NSW, Australia.
[Eastwood, John] South Western Sydney Local Hlth Dist, Sydney, NSW, Australia.
[Descallar, Joseph] Univ New S Wales, South Western Sydney Local Hlth Dist, South Western Sydney Clin Sch, Sydney, NSW, Australia.
[Short, Katherine] Liverpool Hosp, Speech Pathol Unit, Liverpool, Merseyside, Australia.
[Silove, Natalie] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia.
[Einfeld, Stewart] Univ Sydney, Brain & Mind Res Inst, Ctr Disabil Res & Policy, Sydney, NSW 2006, Australia.
[Prior, Margot] Univ Melbourne, Sch Psychol Sci, Melbourne, Vic, Australia.
RP Eapen, V (reprint author), Acad Unit Child Psychiat South Western Sydney Loc, Sydney, NSW, Australia.
EM v.eapen@unsw.edu.au
RI Williams, Katrina/B-6828-2015
OI Williams, Katrina/0000-0002-1686-4458
FU National Health and Medical Research Council of Australia [APP 1013690];
NSW Kids and Families (NSW Health)
FX This study (APP 1013690) was funded by the National Health and Medical
Research Council of Australia, through a partnership grant with the NSW
Kids and Families (NSW Health) and in-kind support from University of
New South Wales, La Trobe University, South Western Sydney Local Health
District and Sydney Children's Hospital Network. We thank the Child and
Family Health Nurses in the Liverpool/Fairfield/Bankstown areas, the
staff of the postnatal wards at Liverpool and Bankstown hospitals, and
the staff at the Clinical Information Department at Liverpool hospital
as well as Child and Family Health Nurse managers Trish Clarke, Victoria
Blight and Wendy Geddes. We also thank the Watch Me Grow Study Group:
Overs B., Harvey S., Hendry A., Walter A., Matthey S., Shine T., Ha MT.,
Wong O., Garg P., Deering A., Cleary JA., Nguyen, V., Ha M., Butler C.,
Yakob, B.
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NR 41
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 22
PY 2014
VL 14
AR 234
DI 10.1186/1471-2431-14-234
PG 9
WC Pediatrics
SC Pediatrics
GA AQ3PZ
UT WOS:000342707300001
PM 25241772
ER
PT J
AU Martin, LJ
Cork, LC
AF Martin, Lee J.
Cork, Linda C.
TI The non-human primate striatum undergoes marked prolonged remodeling
during postnatal development
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE striatal mosaic; striosome; rhesus monkey; infant; autism; epigenetics;
leucine-enkephalin; nucleus accumbens
ID INSITU HYBRIDIZATION HISTOCHEMISTRY; CENTRAL-NERVOUS-SYSTEM; HUMAN
CAUDATE-NUCLEUS; CORE-SHELL DICHOTOMY; EARLY-LIFE STRESS; RHESUS-MONKEY;
RAT STRIATUM; DOPAMINE ISLANDS; COMPARTMENTAL ORGANIZATION; STRIOSOMAL
COMPARTMENT
AB We examined the postnatal ontogeny of the striatum in rhesus monkeys (Macaca mulatta) to identify temporal and spatial patterns of histological and chemical maturation. Our goal was to determine whether this forebrain structure is developmentally static or dynamic in postnatal life. Brains from monkeys at 1 day, 1, 4, 6, 9, and 12 months of age (N = 12) and adult monkeys (N = 4) were analyzed. Nissl staining was used to assess striatal volume, cytoarchitecture, and apoptosis. Immunohistochemistry was used to localize and measure substance P (SP), leucine-enkephalin (LENK), tyrosine hydroxylase (TH), and calbindin D28 (CAL) immunoreactivities. Mature brain to body weight ratio was achieved at 4 months of age, and striatal volume increased from similar to 1.2 to similar to 1.4 cm(3) during the first postnatal year. Nissl staining identified, prominently in the caudate nucleus, developmentally persistent discrete cell islands with neuronal densities greater than the surrounding striatal parenchyma (matrix). Losses in neuronal density were observed in island and matrix regions during maturation, and differential developmental programmed cell death was observed in islands and matrix regions. Immunohistochemistry revealed striking changes occurring postnatally in striatal chemical neuroanatomy. At birth, the immature dopaminergic nigrostriatal innervation was characterized by islands enriched in TH-immunoreactive puncta (putative terminals) in the neuropil; TH-enriched islands aligned completely with areas enriched in SP immunoreactivity but low in LENK immunoreactivity. These areas enriched in SP immunoreactivity but low in LENK immunoreactivity were identified as striosome and matrix areas, respectively, because CAL immunoreactivity clearly delineated these territories. SP, LENK, and CAL immunoreactivities appeared as positive neuronal cell bodies, processes, and puncta. The matrix compartment at birth contained relatively low TH-immunoreactive processes and few SP-positive neurons but was densely populated with LENK-immunoreactive neurons. The nucleus accumbens part of the ventral striatum also showed prominent differences in SP, LENK, and CAL immunoreactivities in shell and core territories. During 12 months of postnatal maturation salient changes occurred in neurotransmitter marker localization: TH-positive afferents densely innervated the matrix to exceed levels of immunoreactivity in the striosomes; SP immunoreactivity levels increased in the matrix; and LENK-immunoreactivity levels decreased in the matrix and increased in the striosomes. At 12 months of age, striatal chemoarchitecture was similar qualitatively to adult patterns, but quantitatively different in LENK and SP in caudate, putamen, and nucleus accumbens. This study shows for the first time that the rhesus monkey striatum requires more than 12 months after birth to develop an adult-like pattern of chemical neuroanatomy and that principal neurons within striosomes and matrix have different developmental programs for neuropeptide expression. We conclude that postnatal maturation of the striatal mosaic in primates is not static but, rather, is a protracted and dynamic process that requires many synchronous and compartment-selective changes in afferent innervation and in the expression of genes that regulate neuronal phenotypes.
C1 [Martin, Lee J.] Johns Hopkins Univ, Sch Med, Dept Pathol, Div Neuropathol, Baltimore, MD 21205 USA.
[Martin, Lee J.] Johns Hopkins Univ, Sch Med, Pathobiol Grad Program, Baltimore, MD USA.
[Martin, Lee J.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA.
[Cork, Linda C.] Stanford Univ, Sch Med, Dept Comparat Med, Palo Alto, CA 94304 USA.
RP Martin, LJ (reprint author), Johns Hopkins Univ, Sch Med, Dept Pathol, Div Neuropathol, 720 Rutland Ave, Baltimore, MD 21205 USA.
EM martinl@jhmi.edu
FU Johns Hopkins University institutional research grant; U.S. Public
Health Service, National Institutes of Health, National Institute of
Neurological Disorder and Stroke
FX The authors thank Dawn Spicer, Antoinette Price, Frank Barksdale, and
Catherine Lesuisse for technical assistance. This work was supported by
a Johns Hopkins University institutional research grant and grants from
the U.S. Public Health Service, National Institutes of Health, National
Institute of Neurological Disorder and Stroke.
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NR 102
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 22
PY 2014
VL 8
DI 10.3389/fncel.2014.00294
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AP3BC
UT WOS:000341948900001
PM 25294985
ER
PT J
AU DeRamus, TP
Black, BS
Pennick, MR
Kana, RK
AF DeRamus, Thomas P.
Black, Briley S.
Pennick, Mark R.
Kana, Rajesh K.
TI Enhanced parietal cortex activation during location detection in
children with autism
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE fMRI; Autism; Dorsal; Ventral; Visual system; Functional connectivity;
Object recognition; Location detection
ID VISUAL OBJECT RECOGNITION; SPECTRUM DISORDERS; FUNCTIONAL MRI;
FRONTAL-CORTEX; TOP-DOWN; ATTENTION; PERCEPTION; SEARCH; LOBULE;
CONNECTIVITY
AB Background: Visuospatial processing has been found to be mediated primarily by two cortical routes, one of which is unique to recognizing objects (occipital-temporal, ventral or "what" pathway) and the other to detecting the location of objects in space (parietal-occipital, dorsal or "where" pathway). Considering previous findings of relative advantage in people with autism in visuospatial processing, this functional MRI study examined the connectivity in the dorsal and ventral pathways in high-functioning children with autism.
Methods: Seventeen high-functioning children and adolescents with autism spectrum disorders (ASD) and 19 age-and-IQ-matched typically developing (TD) participants took part in this study. A simple visual task involving object recognition and location detection was used. In the MRI scanner, participants were shown grey scale pictures of objects (e.g., toys, household items, etc.) and were asked to identify the objects presented or to specify the location of objects relative to a cross at the center of the screen.
Results: Children with ASD, relative to TD children, displayed significantly greater activation in the left inferior parietal lobule (especially the angular gyrus) while detecting the location of objects. However, there were no group differences in brain activity during object recognition. There were also differences in functional connectivity, with the ASD participants showing decreased connectivity of the inferior temporal area with parietal and occipital areas during location detection.
Conclusions: The results of this study underscore previous findings of an increased reliance on visuospatial processing (increased parietal activation) for information processing in ASD individuals. In addition, such processing may be more local, focal, and detailed in ASD as evidenced from the weaker functional connectivity.
C1 [DeRamus, Thomas P.] Univ Alabama Birmingham, Dept Psychol, Behav Neurosci Grad Program, Birmingham, AL 35294 USA.
[Black, Briley S.] Univ Alabama Birmingham, Undergrad Neurosci Program, Birmingham, AL 35294 USA.
[Pennick, Mark R.] Univ Alabama Birmingham, Dept Psychol, Lifespan & Dev Psychol Grad Program, Birmingham, AL 35294 USA.
[Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB department of Psychology faculty funds
FX We would like to thank all participants in this study for their time and
willingness to participate in this research. This study was supported by
the UAB department of Psychology faculty funds. The authors would like
to thank Hrishikesh Deshpande and Jose Omar Maximo for their technical
support and assistance.
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NR 58
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD SEP 19
PY 2014
VL 6
AR 37
DI 10.1186/1866-1955-6-37
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AW1DR
UT WOS:000346031300001
PM 25302083
ER
PT J
AU Liu, XX
Takumi, T
AF Liu, Xiaoxi
Takumi, Toru
TI Genomic and genetic aspects of autism spectrum disorder
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Autism; Autism spectrum disorder; ASD; Genetics; CNV
ID DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; CHINESE HAN POPULATION;
SYNAPTIC PLASTICITY; JAPANESE POPULATION; SYNDROME REGION; CHROMOSOME
7Q; ASSOCIATION; COMMON; RISK
AB Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. The past decade has witnessed tremendous progress in the genetic studies of ASD. In this article, we review the accumulating literatures on the monogenic forms of ASD and chromosomal abnormalities associated with ASD, the genome-wide linkage and association studies, the copy number variation (CNV) and the next generation sequencing (NGS) studies. With more than hundreds of mutations being implicated, the convergent biological pathways are emerging and the genetic landscape of ASD becomes clearer. The genetic studies provide a solid basis for future translational study for better diagnoses, intervention and treatment of ASD. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Liu, Xiaoxi; Takumi, Toru] RIKEN Brain Sci Inst, Wako, Saitama 3510198, Japan.
[Takumi, Toru] Core Res Evolut Sci & Technol, Japan Sci & Technol Agent JST, Saitama, Japan.
RP Takumi, T (reprint author), RIKEN Brain Sci Inst, 2-1 Hirosawa, Wako, Saitama 3510198, Japan.
EM toru.takumi@riken.jp
FU Japan Society of Promotion of Science; Ministry of Education, Culture,
Sports, Science, and Technology KAKENHI; Strategic International
Coorperative Program; CREST, Japan Science and Technology Agency
FX We thank Drs. Takeshi Otowa, Mamoru Tochigi, and Tsukasa Sasaki for
critical reading and helpful comments on the manuscript. Our work was
supported in part by Japan Society of Promotion of Science and Ministry
of Education, Culture, Sports, Science, and Technology KAKENHI,
Strategic International Coorperative Program and CREST, Japan Science
and Technology Agency.
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NR 82
TC 3
Z9 3
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD SEP 19
PY 2014
VL 452
IS 2
SI SI
BP 244
EP 253
DI 10.1016/j.bbrc.2014.08.108
PG 10
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA AQ5PJ
UT WOS:000342860800006
PM 25173933
ER
PT J
AU Sabers, A
Bertelsen, FCB
Scheel-Kruger, J
Nyengaard, JR
Moller, A
AF Sabers, Anne
Bertelsen, Freja C. B.
Scheel-Kruger, Jorgen
Nyengaard, Jens R.
Moller, Arne
TI Long-term valproic acid exposure increases the number of neocortical
neurons in the developing rat brain. A possible new animal model of
autism
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Valproic acid; Valproate; Autism; Neurodevelopment; Teratogenesis;
Pregnancy
ID AGE 2 YEARS; ANTIEPILEPTIC DRUGS; PRENATAL EXPOSURE; HISTONE
DEACETYLASE; PREFRONTAL CORTEX; MOOD STABILIZER; TERATOGENICITY;
OVERGROWTH; DISORDERS; SIZE
AB The aim of this study was to test the hypothesis that long-term fetal valproic acid (VPA) exposure at doses relevant to the human clinic interferes with normal brain development. Pregnant rats were given intraperitoneal injections of VPA (20 mg/kg or 100 mg/kg) continuously during the last 9-12 days of pregnancy and during the lactation period until sacrifice on the 23rd postnatal day. Total number of neocortical neurons was estimated using the optical fractionator and frontal cortical thicknesses were sampled in VPA exposed pups compared with an unexposed control group. We found that pups exposed to 20 mg/kg and 100 mg/kg doses of VPA had statistically significant higher total number of neurons in neocortex by 15.8% and 12.3%, respectively (p < 0.05) compared to controls amounting to 15.5 x 10(6) neocortical neurons (p < 0.01). There was no statistical difference between the two VPA groups. Pups exposed to100 mg/kg, but not to 20 mg/kg VPA displayed a significant (p < 0.05) broader (7.5%) of frontal cortical thickness compared to controls. Our results support the hypothesis that fetal exposure of VPA may interfere with normal brain development by disturbing neocortical organization, resulting in overgrowth of frontal lobes and increased neuronal cell numbers. The results indirectly suggest that prenatal VPA may contribute as a causative factor in the brain developmental disturbances equivalent to those seen in human autism spectrum disorders. We therefore suggest that this version of the VPA model may provide a translational model of autism. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Sabers, Anne] Rigshosp, Univ State Hosp, Dept Neurol, Epilepsy Clin, DK-2100 Copenhagen, Denmark.
[Bertelsen, Freja C. B.; Moller, Arne] Aarhus Univ Hosp, PET Ctr, DK-8000 Aarhus, Denmark.
[Bertelsen, Freja C. B.; Scheel-Kruger, Jorgen; Moller, Arne] Aarhus Univ, Ctr Functionally Integrat Neurosci, Aarhus, Denmark.
[Nyengaard, Jens R.] Aarhus Univ, Ctr Stochast Geometry & Adv Bioimaging, Stereol & Elect Microscopy Lab, Aarhus, Denmark.
RP Sabers, A (reprint author), Rigshosp, Univ State Hosp, Dept Neurol, Epilepsy Clin, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
EM anne.sabers@regionh.dk; Frejacbb@gmail.com; Kruger@CFIN.dk;
Nyengaard@ki.au.dk; Arne@CFIN.dk
FU Danish Epilepsy Society (Lennart Grans Memorial Foundation); Centre for
Stochastic Geometry and Advanced Bioimaging - Villum Foundation in
Denmark; Eisai Denmark; UCB Nordic; GlaxoSmithKline
FX This study was sponsored by the Danish Epilepsy Society (Lennart Grans
Memorial Foundation) and Centre for Stochastic Geometry and Advanced
Bioimaging founded by Villum Foundation in Denmark. Dr. Anne Sabers has
served on the scientific advisory board and received consultancy or
lecture fees of Eisai Denmark, UCB Nordic and GlaxoSmithKline and has
received travel support from Eisai Denmark and UCB Nordic.
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NR 49
TC 2
Z9 2
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 19
PY 2014
VL 580
BP 12
EP 16
DI 10.1016/j.neulet.2014.07.036
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AQ0NC
UT WOS:000342479000003
PM 25079904
ER
PT J
AU Kandemir, H
Erdal, ME
Selek, S
Ay, OI
Karababa, IF
Kandemir, SB
Ay, ME
Yilmaz, SG
Bayazit, H
Tasdelen, B
AF Kandemir, Hasan
Erdal, Mehmet Emin
Selek, Salih
Ay, Ozlem Izci
Karababa, Ibrahim Fatih
Kandemir, Sultan Basmaci
Ay, Mustafa Ertan
Yilmaz, Senay Gorucu
Bayazit, Huseyin
Tasdelen, Bahar
TI Evaluation of several micro RNA (miRNA) levels in children and
adolescents with attention deficit hyperactivity disorder
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE ADHD; micro RNA; miRNA; Psychiatry; Child psychiatry
ID LYMPHOBLASTOID CELL-LINES; ALZHEIMERS-DISEASE BRAIN;
DEFICIT/HYPERACTIVITY DISORDER; PREFRONTAL CORTEX; AUTISM SPECTRUM;
EXPRESSION; SCHIZOPHRENIA; ADHD; DYSREGULATION; INDIVIDUALS
AB Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent childhood disorders, although disorders etiology and pathogenesis remains unknown, several theories about ADHD development have been proposed and many researchers believe that it is caused by both genetic and environmental factors. In this study we evaluated miR18a-5p, miR22-3p, miR24-3p, miR106b-5p, miR107, miR125b-5p and miR155a-5p levels in child and adolescent ADHD patients. The research sample consisted a group of 52 ADHD patients, and 52 healthy volunteer controls. There was no significant difference in age and sex between the two groups (p > 0.05). miRNA 18a-5p, 22-3p, 24-3p, 106b-5p and 107 levels were statistically significantly decreased in ADHD patients(p < 0.05). miRNA 155a-5p levels were increased in patients group (p < 0.05). The positive predictive value (PPV) and negative predictive value of miR107 was estimated for the cutoff point of 0.4480. PPV was 70% and NPV was 86.5% for the taken cut off point. There could be a close relationship between levels of circulating miRNAs and ADHD. If we could understand how the signaling pathways arranged by miRNAs, impact on CNS development, function and pathology this can improve our knowledge about ADHD etiology and treatment. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Kandemir, Hasan] Harran Univ, Fac Med, Dept Child & Adolescent Psychiat, Sanliurfa, Turkey.
[Erdal, Mehmet Emin; Ay, Ozlem Izci; Ay, Mustafa Ertan] Mersin Univ, Fac Med, Dept Med Biol, Mersin, Turkey.
[Selek, Salih] Medeniyet Univ, Fac Med, Dept Psychiat, Istanbul, Turkey.
[Karababa, Ibrahim Fatih; Bayazit, Huseyin] Harran Univ, Fac Med, Dept Psychiat, Sanliurfa, Turkey.
[Kandemir, Sultan Basmaci] Balikli Gol State Hosp, Dept Psychiat, Sanliurfa, Turkey.
[Yilmaz, Senay Gorucu] Mersin Univ, Fac Med, Dept Med Biol & Genet, Mersin, Turkey.
[Tasdelen, Bahar] Mersin Univ, Fac Med, Dept Biostat, Mersin, Turkey.
RP Selek, S (reprint author), Medeniyet Univ, Fac Med, Dept Psychiat, Istanbul, Turkey.
EM drselek@yahoo.com
RI Erdal, Mehmet Emin/F-9241-2015
OI Erdal, Mehmet Emin/0000-0002-6191-2930
FU Harran University Coordination of Scientific Research Projects [12010]
FX Our study has been supported by Harran University Coordination of
Scientific Research Projects (Funding Number: 12010).
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NR 44
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 19
PY 2014
VL 580
BP 158
EP 162
DI 10.1016/j.neulet.2014.07.060
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AQ0NC
UT WOS:000342479000031
PM 25123444
ER
PT J
AU Kronenberg, LM
Slager-Visscher, K
Goossens, PJJ
van den Brink, W
van Achterberg, T
AF Kronenberg, Linda M.
Slager-Visscher, Karin
Goossens, Peter J. J.
van den Brink, Wim
van Achterberg, Theo
TI Everyday life consequences of substance use in adult patients with a
substance use disorder (SUD) and co-occurring attention
deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD):
a patient's perspective
SO BMC PSYCHIATRY
LA English
DT Article
DE Substance use disorders; Attention deficit hyperactivity disorder;
Autism spectrum disorder; Everyday life consequences; Adults
ID DUAL DIAGNOSIS; EXECUTIVE FUNCTION; PROSPECTIVE MEMORY; ABUSE; ALCOHOL;
COMORBIDITY; IMPAIRMENTS; ADDICTION; CLIENTS; BRAIN
AB Background: Although the prevalence of substance use disorder (SUD) with co-occurring attention deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) is relatively high in adult patients, there is hardly any knowledge about these dual diagnoses. A recent study reported met-and unmet needs for several life domains regarding these patient groups. To improve treatment, it is necessary to identify the everyday life consequences of SUD and co-occurring ADHD or ASD in adult patients.
Methods: Qualitative study using in-depth interviews. 11 SUD + ADHD and 12 SUD + ASD patients participated in the study. The interview transcripts were coded and analysed according to the seven steps for descriptive phenomenology by Colaizzi.
Results: Both patients with ADHD and patients with ASD can get caught in a jumble of thoughts and emotions which can often lead to agitation and impulsivity in the case of ADHD or passivity and melancholia in the case of ASD with co-occurring SUD in both cases. Initially substance use ameliorates the symptoms and related problems, but both patient groups can later experience even greater problems: difficulties with the structuring of daily life due to a lack of planning (SUD + ADHD) or due to a lack of initiative (SUD + ASD). Both groups indicate that structure helps them function better. They also recognize that substance use disorganizes their lives and that an absence of structure contributes to substance use in what becomes a vicious circle which needs to be broken for effective treatment and care.
Conclusions: This study provides insight into the daily life consequences of SUD with a co-occurring ADHD or ASD. Substance use is reported to solve some ADHD- or ASD-related problems in the short run but have negative consequences in the long run (i.e., contribute to already impaired cognitive functioning). Insight is provided into what clinicians can do to break this vicious circle and thus help ADHD patients to refrain from action and ASD patients to take action.
C1 [Kronenberg, Linda M.] Dept Residency Training MANP Mental Hlth, Deventer, Netherlands.
[Kronenberg, Linda M.] Dimence, Dual Diag Dept, Deventer, Netherlands.
[Slager-Visscher, Karin] Dimence, Assert Community Treatment, Deventer, Netherlands.
[Goossens, Peter J. J.] Saxion Univ Appl Sci, Expertise Ctr Hlth Social Work & Technol, Deventer, Netherlands.
[Goossens, Peter J. J.] Dimence, SCBS, Deventer, Netherlands.
[Goossens, Peter J. J.; van Achterberg, Theo] Radboud Univ Nijmegen, Med Ctr, Sci Inst Qual Healthcare, NL-6525 ED Nijmegen, Netherlands.
[van den Brink, Wim] Univ Amsterdam, Acad Med Ctr, Amsterdam Inst Addict Res, NL-1105 AZ Amsterdam, Netherlands.
[van Achterberg, Theo] Katholieke Univ Leuven, Ctr Hlth Serv & Nursing Res, Leuven, Belgium.
[van Achterberg, Theo] Uppsala Univ, Dept Publ Hlth & Caring Sci, Uppsala, Sweden.
RP Kronenberg, LM (reprint author), Dept Residency Training MANP Mental Hlth, POB 50037400 GC, Deventer, Netherlands.
EM l.kronenberg@dimence.nl
FU Dimence
FX Dimence funded a PhD-study on behalf of LK, and for that they funded
this study because it forms a part of the PhD-study.
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NR 30
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-244X
J9 BMC PSYCHIATRY
JI BMC Psychiatry
PD SEP 19
PY 2014
VL 14
AR 264
DI 10.1186/s12888-014-0264-1
PG 9
WC Psychiatry
SC Psychiatry
GA AP4FK
UT WOS:000342032400001
PM 25234344
ER
PT J
AU Zabelina, DL
Condon, D
Beeman, M
AF Zabelina, Darya L.
Condon, David
Beeman, Mark
TI Do dimensional psychopathology measures relate to creative achievement
or divergent thinking?
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE creativity; psychopathology; individual differences; divergent thinking;
creative achievement
ID COGNITIVE CONTROL; BIPOLAR DISORDER; MENTAL-ILLNESS; SCHIZOTYPY;
PERSONALITY; INTELLIGENCE; SCALE; MATHEMATICIANS; SCHIZOPHRENIA;
ORGANIZATION
AB Previous research provides disparate accounts of the putative association between creativity and psychopathology, including schizotypy, psychoticism, hypomania, bipolar disorder, ADHD, and autism spectrum disorders. To examine these association, healthy, non-clinical participants completed several psychopathology-spectrum measures, often postulated to associate with creativity: the Schizotypal Personality Questionnaire, the Psychoticism scale, the Personality Inventory for DSM-5, the Hypomanic Personality Scale, the Attention Deficit/Hyperactivity Disorder scale, the Beck Depression Inventory, and the Autism-Spectrum Quotient. The goal of Study 1 was to evaluate the factor structure of these dimensional psychopathology measures and, in particular, to evaluate the case for a strong general factor(s). None of the factor solutions between 1 and 10 factors provided a strong fit with the data based on the most commonly used metrics. The goal of Study 2 was to determine whether these psychopathology scales predict, independently, two measures of creativity: 1. a measure of participants' real-world creative achievements, and 2. divergent thinking, a laboratory measure of creative cognition. After controlling for academic achievement, psychoticism and hypomania reliably predicted real-world creative achievement and divergent thinking scored with the consensual assessment technique. None of the psychopathology-spectrum scales reliably predicted divergent thinking scored with the manual scoring method. Implications for the potential links between several putative creative processes and risk factors for psychopathology are discussed.
C1 [Zabelina, Darya L.; Condon, David; Beeman, Mark] Northwestern Univ, Dept Psychol, Evanston, IL 60208 USA.
RP Zabelina, DL (reprint author), Northwestern Univ, Dept Psychol, 2029 Sheridan Rd, Evanston, IL 60208 USA.
EM darya.zabelina@u.northwestern.edu
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NR 71
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD SEP 18
PY 2014
VL 5
AR 1029
DI 10.3389/fpsyg.2014.01029
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AP2YQ
UT WOS:000341942500001
PM 25278919
ER
PT J
AU Fujisawa, TX
Tanaka, S
Saito, DN
Kosaka, H
Tomoda, A
AF Fujisawa, Takashi X.
Tanaka, Shiho
Saito, Daisuke N.
Kosaka, Hirotaka
Tomoda, Akemi
TI Visual attention for social information and salivary oxytocin levels in
preschool children with autism spectrum disorders: an eye-tracking study
SO FRONTIERS IN NEUROSCIENCE
LA English
DT Article
DE oxytocin (OT); autism spectrum disorder (ASD); visual attention;
preschool children; eye-tracking
ID JOINT ATTENTION; NEURAL CIRCUITRY; HUMANS; BEHAVIOR; BRAIN; VASOPRESSIN;
PATTERNS; MIND; MOTIVATION; COGNITION
AB This study was designed to ascertain the relationship between visual attention for social information and oxytocin (OT) levels in Japanese preschool children with autism spectrum disorder (ASD). We hypothesized that poor visual attention for social information and low OT levels are crucially important risk factors associated with ASD. We measured the pattern of gaze fixation for social information using an eye-tracking system, and salivary OT levels by the Enzyme-Linked Immunosorbent Assay (ELISA). There was a positive association between salivary OT levels and fixation duration for an indicated object area in a finger-pointing movie in typically developing (TD) children. However, no association was found between these variables in children with ASD. Moreover, age decreased an individual's attention to people moving and pointed-at objects, but increased attention for mouth-in-the-face recognition, geometric patterns, and biological motions. Thus, OT levels likely vary during visual attention for social information between TD children and those with ASD. Further, aging in preschool children has considerable effect on visual attention for social information.
C1 [Fujisawa, Takashi X.; Tanaka, Shiho; Saito, Daisuke N.; Kosaka, Hirotaka; Tomoda, Akemi] Univ Fukui, Res Ctr Child Mental Dev, Fukui 910, Japan.
[Fujisawa, Takashi X.; Saito, Daisuke N.; Kosaka, Hirotaka; Tomoda, Akemi] Univ Fukui, Hamamatsu Univ Sch Med, Chiba Univ,Dept Child Dev, Kanazawa Univ,Osaka Univ,United Grad Sch Child De, Fukui 910, Japan.
[Saito, Daisuke N.] Univ Fukui, Biomed Imaging Res Ctr, Fukui 910, Japan.
[Kosaka, Hirotaka] Univ Fukui, Fac Med Sci, Dept Neuropsychiat, Fukui 910, Japan.
RP Tomoda, A (reprint author), Univ Fukui, Res Ctr Child Mental Dev, 23-3 Matsuoka Shimoaizuki, Eiheiji, Fukui 9101193, Japan.
EM atomoda@u-fukui.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan (KAKENHI) [24300149, 25560386, 25750405]; MEXT of Japan
FX This work was supported by a Grant-in-Aid for Scientific Research (B),
Young Scientists (B) and Challenging Exploratory Research from the
Ministry of Education, Culture, Sports, Science and Technology (MEXT) of
Japan (KAKENHI: grant numbers 24300149 and 25560386 to Akemi Tomoda,
grant number 25750405 to Takashi X. Fujisawa). Part of this report is
the result of "Integrated Research on Neuropsychiatric Disorders"
conducted under the Strategic Research Program for Brain Sciences by
MEXT of Japan. This work also was partially supported by a research
grant from the "Center of Community (COC)" program from the MEXT of
Japan to Takashi X. Fujisawa, Daisuke N. Saito, and Akemi Tomoda.
Funding organizations had no role in the design or conduct of the study,
such as the collection, management, analysis, or interpretation of the
data, or the preparation, review, or approval of the manuscript.
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NR 54
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-453X
J9 FRONT NEUROSCI-SWITZ
JI Front. Neurosci.
PD SEP 17
PY 2014
VL 8
AR 295
DI 10.3389/fnins.2014.00295
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AW8QF
UT WOS:000346526200001
PM 25278829
ER
PT J
AU Sugino, K
Hempel, CM
Okaty, BW
Arnson, HA
Kato, S
Dani, VS
Nelson, SB
AF Sugino, Ken
Hempel, Chris M.
Okaty, Benjamin W.
Arnson, Hannah A.
Kato, Saori
Dani, Vardhan S.
Nelson, Sacha B.
TI Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased
toward Long Genes
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE cell adhesion; MeCP2; microarray; Rett syndrome
ID RETT-SYNDROME; MOUSE MODEL; TRANSCRIPTIONAL REPRESSOR; MECP2 DEFICIENCY;
NEURONS; AUTISM; BRAIN; MICE; MATURATION; SYNAPSE
AB Mutations in methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome and related autism spectrum disorders (Amir et al., 1999). MeCP2 is believed to be required for proper regulation of brain gene expression, but prior microarray studies in Mecp2 knock-out mice using brain tissue homogenates have revealed only subtle changes in gene expression (Tudor et al., 2002; Nuber et al., 2005; Jordan et al., 2007; Chahrour et al., 2008). Here, by profiling discrete subtypes of neurons we uncovered more dramatic effects of MeCP2 on gene expression, overcoming the "dilution problem" associated with assaying homogenates of complex tissues. The results reveal misregulation of genes involved in neuronal connectivity and communication. Importantly, genes upregulated following loss of MeCP2 are biased toward longer genes but this is not true for downregulated genes, suggesting MeCP2 may selectively repress long genes. Because genes involved in neuronal connectivity and communication, such as cell adhesion and cell-cell signaling genes, are enriched among longer genes, their misregulation following loss of MeCP2 suggests a possible etiology for altered circuit function in Rett syndrome.
C1 [Sugino, Ken; Hempel, Chris M.; Okaty, Benjamin W.; Arnson, Hannah A.; Kato, Saori; Dani, Vardhan S.; Nelson, Sacha B.] Brandeis Univ, Dept Biol, Waltham, MA 02454 USA.
[Sugino, Ken; Hempel, Chris M.; Okaty, Benjamin W.; Arnson, Hannah A.; Kato, Saori; Dani, Vardhan S.; Nelson, Sacha B.] Brandeis Univ, Ctr Behav Genom, Waltham, MA 02454 USA.
RP Sugino, K (reprint author), Janelia Farm Res Campus,19700 Helix Dr, Ashburn, VA 20147 USA.
EM suginok@janelia.hhmi.org; nelson@brandeis.edu
FU McKnight Foundation; Autism Speaks; IRSF; NINDS
FX This work was supported by grants from the McKnight Foundation, Autism
Speaks, IRSF, and NINDS. Wethank P. Shapiro, R. Pavlyuk, and Z. Meng for
technical assistance, R. Jaenisch and Q. Chang for kindly providing
Mecp2 KO mice, N. Matsushita for kindly providing TH mice, and J. Huang
for kindly providing G42 mice.
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NR 49
TC 2
Z9 2
PU SOC NEUROSCIENCE
PI WASHINGTON
PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA
SN 0270-6474
J9 J NEUROSCI
JI J. Neurosci.
PD SEP 17
PY 2014
VL 34
IS 38
BP 12877
EP 12883
DI 10.1523/JNEUROSCI.2674-14.2014
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AP0QO
UT WOS:000341767800023
PM 25232122
ER
PT J
AU Schmitt, LM
Cook, EH
Sweeney, JA
Mosconi, MW
AF Schmitt, Lauren M.
Cook, Edwin H.
Sweeney, John A.
Mosconi, Matthew W.
TI Saccadic eye movement abnormalities in autism spectrum disorder indicate
dysfunctions in cerebellum and brainstem
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder (ASD); Sensorimotor; Eye movement; Saccade;
Cerebellum; Brainstem
ID DIAGNOSTIC OBSERVATION SCHEDULE; CAUDAL FASTIGIAL NUCLEUS;
HIGH-FUNCTIONING AUTISM; BURST NEURONS; SUPERIOR COLLICULUS; OCULOMOTOR
REGION; REPETITIVE BEHAVIOR; INFANTILE-AUTISM; VISUAL-ATTENTION; MACAQUE
MONKEYS
AB Background: Individuals with autism spectrum disorder (ASD) show atypical scan paths during social interaction and when viewing faces, and recent evidence suggests that they also show abnormal saccadic eye movement dynamics and accuracy when viewing less complex and non-social stimuli. Eye movements are a uniquely promising target for studies of ASD as their spatial and temporal characteristics can be measured precisely and the brain circuits supporting them are well-defined. Control of saccade metrics is supported by discrete circuits within the cerebellum and brainstem two brain regions implicated in magnetic resonance (MR) morphometry and histopathological studies of ASD. The functional integrity of these distinct brain systems can be examined by evaluating different parameters of visually-guided saccades.
Methods: A total of 65 participants with ASD and 43 healthy controls, matched on age (between 6 and 44-years-old), gender and nonverbal IQ made saccades to peripheral targets. To examine the influence of attentional processes, blocked gap and overlap trials were presented. We examined saccade latency, accuracy and dynamics, as well as the trial-to-trial variability of participants' performance.
Results: Saccades of individuals with ASD were characterized by reduced accuracy, elevated variability in accuracy across trials, and reduced peak velocity and prolonged duration. In addition, their saccades took longer to accelerate to peak velocity, with no alteration in the duration of saccade deceleration. Gap/overlap effects on saccade latencies were similar across groups, suggesting that visual orienting and attention systems are relatively spared in ASD. Age-related changes did not differ across groups.
Conclusions: Deficits precisely and consistently directing eye movements suggest impairment in the error-reducing function of the cerebellum in ASD. Atypical increases in the duration of movement acceleration combined with lower peak saccade velocities implicate pontine nuclei, specifically suggesting reduced excitatory activity in burst cells that drive saccades relative to inhibitory activity in omnipause cells that maintain stable fixation. Thus, our findings suggest that both cerebellar and brainstem abnormalities contribute to altered sensorimotor control in ASD.
C1 [Schmitt, Lauren M.; Sweeney, John A.; Mosconi, Matthew W.] Univ Texas Southwestern, Ctr Autism & Dev Disabil, Dallas, TX 75390 USA.
[Cook, Edwin H.] Univ Illinois, Dept Psychiat, Chicago, IL 60608 USA.
[Sweeney, John A.] Bond Univ, Ctr Autism Spectrum Disorders, Gold Coast, Qld 4229, Australia.
[Mosconi, Matthew W.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[Mosconi, Matthew W.] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA.
RP Mosconi, MW (reprint author), Univ Texas Southwestern, Ctr Autism & Dev Disabil, 5323 Harry Hines Blvd, Dallas, TX 75390 USA.
EM Matt.Mosconi@UTSouthwestern.edu
FU NIH Autism Center of Excellence grant [P50HD055751]; NIH K23 Research
Career Development Award [MH092696]; Autism Speaks [4853]
FX This work was supported by NIH Autism Center of Excellence grant
P50HD055751 (EHC, JAS, MWM), NIH K23 Research Career Development Award
MH092696 (MWM) and an Autism Speaks grant 4853 (MWM).
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NR 95
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 16
PY 2014
VL 5
AR 47
DI 10.1186/2040-2392-5-47
PG 13
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JG
UT WOS:000344105400001
PM 25400899
ER
PT J
AU Lukoshe, A
Hokken-Koelega, AC
van der Lugt, A
White, T
AF Lukoshe, Akvile
Hokken-Koelega, Anita C.
van der Lugt, Aad
White, Tonya
TI Reduced Cortical Complexity in Children with Prader-Willi Syndrome and
Its Association with Cognitive Impairment and Developmental Delay
SO PLOS ONE
LA English
DT Article
ID HUMAN CEREBRAL-CORTEX; AUTISM SPECTRUM DISORDERS; MAGNETIC-RESONANCE
IMAGES; GROWTH-HORMONE TREATMENT; MENTAL-RETARDATION; HUMAN BRAIN;
GENETIC SUBTYPES; GYRIFICATION; MRI; SCHIZOPHRENIA
AB Background: Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group.
Methods: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age-and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite.
Results: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ.
Conclusions: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in early brain development.
C1 [Lukoshe, Akvile; Hokken-Koelega, Anita C.] Dutch Growth Res Fdn, Rotterdam, Netherlands.
[Lukoshe, Akvile; Hokken-Koelega, Anita C.] Sophia Childrens Univ Hosp, Erasmus Med Ctr Rotterdam, Dept Pediat, Rotterdam, Netherlands.
[White, Tonya] Sophia Childrens Univ Hosp, Erasmus Med Ctr Rotterdam, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands.
[van der Lugt, Aad; White, Tonya] Erasmus MC, Dept Radiol, Rotterdam, Netherlands.
RP Lukoshe, A (reprint author), Dutch Growth Res Fdn, Rotterdam, Netherlands.
EM a.lukose@kindengroei.nl
FU Foundation for Prader-Willi Research; Dutch Growth Research Foundation
FX This study was financially supported by the Foundation for Prader-Willi
Research and Dutch Growth Research Foundation. The funders had no role
in study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 60
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 16
PY 2014
VL 9
IS 9
AR e107320
DI 10.1371/journal.pone.0107320
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AS5NP
UT WOS:000344317700043
PM 25226172
ER
PT J
AU Di Napoli, A
Warrier, V
Baron-Cohen, S
Chakrabarti, B
AF Di Napoli, Agnese
Warrier, Varun
Baron-Cohen, Simon
Chakrabarti, Bhismadev
TI Genetic variation in the oxytocin receptor (OXTR) gene is associated
with Asperger Syndrome
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism Spectrum Conditions (ASC); Asperger Syndrome (AS); Oxytocin
receptor (OXTR); Haplotype analysis
ID SINGLE-NUCLEOTIDE POLYMORPHISMS; AUTISTIC TRAITS; SOCIAL-BEHAVIOR;
POPULATION; DISORDER; TWIN; PREVALENCE; EXPRESSION; STABILITY; CHILDREN
AB Background: Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC.
Methods: The present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis.
Results: There was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs22684 90-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD).
Conclusions: This study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.
C1 [Di Napoli, Agnese; Warrier, Varun; Baron-Cohen, Simon; Chakrabarti, Bhismadev] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Cambridge CB21 5EF, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
RP Di Napoli, A (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England.
EM agnesedinapoli@outlook.com; sb205@cam.ac.uk
FU Target Autism Genome; Nancy Lurie Marks (NLM) Family Foundation; Autism
Research Trust; Medical Research Council United Kingdom; Wellcome Trust
Sanger Centre; Max Planck Institute for Psycholinguistics; Nehru Trust
for Cambridge University; St John's College Cambridge; Cambridge
Commonwealth Trust
FX This study was funded by project grants to SBC from Target Autism
Genome, the Nancy Lurie Marks (NLM) Family Foundation, the Autism
Research Trust, the Medical Research Council United Kingdom, the
Wellcome Trust Sanger Centre, and the Max Planck Institute for
Psycholinguistics. BC was funded by the Medical Research Council United
Kingdom. VW was funded by the Nehru Trust for Cambridge University, St
John's College Cambridge, and the Cambridge Commonwealth Trust, and this
work was submitted in part fulfilment of the degree of MPhil at
Cambridge University by VW. The study was undertaken in association with
the National Institute of Health Research (NIHR) Collaborations for
Leadership in Applied Health Research and Care (CLAHRC) East of England
(EoE). We are thankful to Robert Plomin, Frank Dudbridge, Lindsey Kent
and Ian Craig for discussions, and to Laura Murphy, Jon Breidbord, Allen
Chan, Sylvia Lakatosova, Sally Wheelwright, Carrie Allison, Uma Mallya,
Alex Politt, and the late Leena Peltonen for support at different stages
of the project. Simon Fisher provided part funding for the project.
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NR 48
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 16
PY 2014
VL 5
AR 48
DI 10.1186/2040-2392-5-48
PG 7
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AS2JH
UT WOS:000344105700001
PM 25264479
ER
PT J
AU Burrage, LC
Nagamani, SCS
Campeau, PM
Lee, BH
AF Burrage, Lindsay C.
Nagamani, Sandesh C. S.
Campeau, Philippe M.
Lee, Brendan H.
TI Branched-chain amino acid metabolism: from rare Mendelian diseases to
more common disorders
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID SYRUP-URINE-DISEASE; ALPHA-KETO-ACIDS; DOMINO LIVER-TRANSPLANTATION;
BRAIN ENERGY-METABOLISM; UREA CYCLE DISORDERS; OXIDATIVE STRESS;
INBORN-ERRORS; RAT-BRAIN; BIOCHEMICAL BASIS; IN-VITRO
AB Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common multifactorial diseases. Although deficiency of the branched-chain ketoacid dehydrogenase(BCKDC) and associated elevations in the BCAAs and their ketoacids have been recognized as the cause of maple syrup urine disease (MSUD) for decades, treatment options for this disorder have been limited to dietary interventions. In recent years, the discovery of improved leucine tolerance after liver transplantation has resulted in a new therapeutic strategy for this disorder. Likewise, targeting the regulation of the BCKDC activity may be an alternative potential treatment strategy for MSUD. The regulation of the BCKDC by the branched-chain ketoacid dehydrogenase kinase has also been implicated in a new inborn error of metabolism characterized by autism, intellectual disability and seizures. Finally, there is a growing body of literature implicating BCAA metabolism in more common disorders such as the metabolic syndrome, cancer and hepatic disease. This review surveys the knowledge acquired on the topic over the past 50 years and focuses on recent developments in the field of BCAA metabolism.
C1 [Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Lee, Brendan H.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Campeau, Philippe M.] Univ Montreal, Dept Pediat, Montreal, PQ H3C 3J7, Canada.
[Lee, Brendan H.] Howard Hughes Med Inst, Houston, TX 77030 USA.
RP Lee, BH (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
EM blee@bcm.edu
FU ACMG Foundation/Genzyme Biochemical Genetics Fellowship; Clinical
Scientist Development Award by the Doris Duke Charitable Foundation;
O'Malley Foundation Research Fellowship; NIH [DK92921]; Baylor College
of Medicine General Clinical Research Center [RR00188]; BCM Intellectual
and Developmental Disabilities Research Center [HD024064]; Eunice
Kennedy Shriver National Institute Of Child Health & Human Development;
Urea Cycle Disorders Research Consortium a part of the National
Institutes of Health (NIH) Rare Diseases Clinical Research Network
(RDCRN) [U54 HD061221]; NIH Office of Rare Diseases Research (ORDR) at
the National Center for Advancing Translational Science (NCATS); NICHD
FX L.C.B. is supported by the ACMG Foundation/Genzyme Biochemical Genetics
Fellowship. S.C.S.N. is supported by the Clinical Scientist Development
Award by the Doris Duke Charitable Foundation. P.M.C. was supported by
the O'Malley Foundation Research Fellowship. This work was supported by
the NIH (DK92921 to B.L.), Baylor College of Medicine General Clinical
Research Center (RR00188), the BCM Intellectual and Developmental
Disabilities Research Center (HD024064) from the Eunice Kennedy Shriver
National Institute Of Child Health & Human Development and the Urea
Cycle Disorders Research Consortium (U54 HD061221, a part of the
National Institutes of Health (NIH) Rare Diseases Clinical Research
Network (RDCRN), supported through collaboration between the NIH Office
of Rare Diseases Research (ORDR) at the National Center for Advancing
Translational Science (NCATS) and the NICHD. The content is solely the
responsibility of the authors and does not necessarily represent the
official views of the National Institutes of Health.
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NR 107
TC 0
Z9 0
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 SEP 15
PY 2014
VL 23
SI 1
BP R1
EP R8
DI 10.1093/hmg/ddu123
PG 8
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA CB7RS
UT WOS:000349825700001
PM 24651065
ER
PT J
AU Ambrosini, E
Sicca, F
Brignone, MS
D'Adamo, MC
Napolitano, C
Servettini, I
Moro, F
Ruan, YF
Guglielmi, L
Pieroni, S
Servillo, G
Lanciotti, A
Valvo, G
Catacuzzeno, L
Franciolini, F
Molinari, P
Marchese, M
Grottesi, A
Guerrini, R
Santorelli, FM
Priori, S
Pessia, M
AF Ambrosini, Elena
Sicca, Federico
Brignone, Maria S.
D'Adamo, Maria C.
Napolitano, Carlo
Servettini, Ilenio
Moro, Francesca
Ruan, Yanfei
Guglielmi, Luca
Pieroni, Stefania
Servillo, Giuseppe
Lanciotti, Angela
Valvo, Giulia
Catacuzzeno, Luigi
Franciolini, Fabio
Molinari, Paola
Marchese, Maria
Grottesi, Alessandro
Guerrini, Renzo
Santorelli, Filippo M.
Priori, Silvia
Pessia, Mauro
TI Genetically induced dysfunctions of Kir2.1 channels: implications for
short QT3 syndrome and autism-epilepsy phenotype
SO HUMAN MOLECULAR GENETICS
LA English
DT Article
ID ANDERSEN-TAWIL-SYNDROME; GAIN-OF-FUNCTION; KCNJ2 MUTATION; POTASSIUM
CHANNELS; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; ATRIAL-FIBRILLATION; K+
CHANNELS; CELLS; BRAIN; CHOLESTEROL
AB Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on monozygotic twins displaying a short QT interval on electrocardiogram recordings and autism-epilepsy phenotype. Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel's surface expression and stability at the plasma membrane, (ii) reduced protein ubiquitylation and degradation, (iii) altered protein compartmentalization in lipid rafts by targeting more channels to cholesterol-poor domains and (iv) reduced interactions with caveolin 2. Importantly, our study reveals novel physiological mechanisms concerning wild-type Kir2.1 channel processing by the cell, such as binding to both caveolin 1 and 2, protein degradation through the ubiquitin-proteasome pathway; in addition, it uncovers a potential multifunctional site that controls Kir2.1 surface expression, protein half-life and partitioning to lipid rafts. The reported mechanisms emerge as crucial also for proper astrocyte function, suggesting the need for a neuropsychiatric evaluation in patients with SQT3S and offering new opportunities for disease management.
C1 [Ambrosini, Elena; Brignone, Maria S.; Lanciotti, Angela] Ist Super Sanita, Dept Cell Biol & Neurosci, I-00161 Rome, Italy.
[Sicca, Federico; Moro, Francesca; Valvo, Giulia; Guerrini, Renzo] IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, Dept Dev Neurosci, Pisa, Italy.
[Marchese, Maria; Santorelli, Filippo M.] IRCCS Stella Maris Fdn, Mol Med Lab, Pisa, Italy.
[D'Adamo, Maria C.; Servettini, Ilenio; Guglielmi, Luca; Pessia, Mauro] Univ Perugia, Fac Med, Sect Physiol & Biochem, Dept Expt Med, I-06100 Perugia, Italy.
[Pieroni, Stefania; Servillo, Giuseppe] Univ Perugia, Fac Med, Dept Expt Med, I-06100 Perugia, Italy.
[Catacuzzeno, Luigi; Franciolini, Fabio] Univ Perugia, Dept Chem Biol & Biotechnol, I-06100 Perugia, Italy.
[Napolitano, Carlo; Ruan, Yanfei; Priori, Silvia] IRCCS Salvatore Maugeri Fdn, Pavia, Italy.
[Molinari, Paola] Ist Super Sanita, Dept Pharmacol, I-00161 Rome, Italy.
[Grottesi, Alessandro] CASPUR, Computat Med & Biol Grp, Rome, Italy.
[Guerrini, Renzo] Univ Florence, Childrens Hosp A Meyer, Pediat Neurol Unit & Labs, Florence, Italy.
RP Ambrosini, E (reprint author), Ist Super Sanita, Dept Cell Biol & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy.
EM elena.ambrosini@iss.it
RI Catacuzzeno, Luigi/M-4637-2014
FU Telethon grant [GGP11188]; MIUR-PRIN [20108WT59Y_004]; COMPAGNIA di San
Paolo (Turin) 'Programma Neuroscienze'; Ministero della Salute
[GR-2009-1580433]; Fondazione Cassa di Risparmio di Perugia; Telethon
grants [GGP11141, GGP06007]; Fondation Leducq Award [08CVD01];
Fondazione Veronesi Award on inherited arrhythmogenic diseases
FX This work was supported by Telethon grant (GGP11188), MIUR-PRIN
(20108WT59Y_004), COMPAGNIA di San Paolo (Turin) 'Programma
Neuroscienze', Ministero della Salute (GR-2009-1580433) and Fondazione
Cassa di Risparmio di Perugia, Telethon grants GGP11141 and GGP06007 (to
S. G. P.), Fondation Leducq Award 08CVD01 (to S. G. P.), by Fondazione
Veronesi Award on inherited arrhythmogenic diseases (to S.G.P.).
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NR 64
TC 2
Z9 2
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0964-6906
EI 1460-2083
J9 HUM MOL GENET
JI Hum. Mol. Genet.
PD SEP 15
PY 2014
VL 23
IS 18
BP 4875
EP 4886
DI 10.1093/hmg/ddu201
PG 12
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AQ9OF
UT WOS:000343184400011
PM 24794859
ER
PT J
AU Oginsky, MF
Cui, NR
Zhong, WW
Johnson, CM
Jiang, C
AF Oginsky, Max F.
Cui, Ningren
Zhong, Weiwei
Johnson, Christopher M.
Jiang, Chun
TI Alterations in the cholinergic system of brain stem neurons in a mouse
model of Rett syndrome
SO AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
LA English
DT Article
DE acetylcholine; nicotinic acetylcholine receptor; compensatory
mechanisms; locus coeruleus; Mecp2; Rett syndrome
ID NICOTINIC ACETYLCHOLINE-RECEPTORS; LOCUS-COERULEUS NEURONS; FACILITATES
INHIBITORY TRANSMISSION; SINGLE-CHANNEL PROPERTIES; MECP2-NULL MICE;
SYNAPTIC-TRANSMISSION; SUBSTANTIA-GELATINOSA; TYROSINE-HYDROXYLASE; CO2
CHEMOSENSITIVITY; GABAERGIC NEURONS
AB Rett syndrome is an autism-spectrum disorder resulting from mutations to the X-linked gene, methyl-CpG binding protein 2 (MeCP2), which causes abnormalities in many systems. It is possible that the body may develop certain compensatory mechanisms to alleviate the abnormalities. The norepinephrine system originating mainly in the locus coeruleus (LC) is defective in Rett syndrome and Mecp2-null mice. LC neurons are subject to modulation by GABA, glutamate, and acetylcholine (ACh), providing an ideal system to test the compensatory hypothesis. Here we show evidence for potential compensatory modulation of LC neurons by post-and presynaptic ACh inputs. We found that the postsynaptic currents of nicotinic ACh receptors (nAChR) were smaller in amplitude and longer in decay time in the Mecp2-null mice than in the wild type. Single-cell PCR analysis showed a decrease in the expression of alpha(3)-, alpha(4)-, alpha(7)-, and beta(3)-subunits and an increase in the alpha(5)- and alpha(6)-subunits in the mutant mice. The alpha(5)-subunit was present in many of the LC neurons with slow-decay nAChR currents. The nicotinic modulation of spontaneous GABA(A)-ergic inhibitory postsynaptic currents in LC neurons was enhanced in Mecp2-null mice. In contrast, the nAChR manipulation of glutamatergic input to LC neurons was unaffected in both groups of mice. Our current-clamp studies showed that the modulation of LC neurons by ACh input was reduced moderately in Mecp2-null mice, despite the major decrease in nAChR currents, suggesting possible compensatory processes may take place, thus reducing the defects to a lesser extent in LC neurons.
C1 [Oginsky, Max F.; Cui, Ningren; Zhong, Weiwei; Johnson, Christopher M.; Jiang, Chun] Georgia State Univ, Dept Biol, Atlanta, GA 30302 USA.
RP Jiang, C (reprint author), Georgia State Univ, Dept Biol, 100 Piedmont Ave, Atlanta, GA 30302 USA.
EM cjiang@gsu.edu
FU National Institute of Neurological Disorders and Stroke [NS-073875]
FX This work was supported by National Institute of Neurological Disorders
and Stroke Grant NS-073875.
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NR 75
TC 0
Z9 0
PU AMER PHYSIOLOGICAL SOC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA
SN 0363-6143
EI 1522-1563
J9 AM J PHYSIOL-CELL PH
JI Am. J. Physiol.-Cell Physiol.
PD SEP 15
PY 2014
VL 307
IS 6
BP C508
EP C520
DI 10.1152/ajpcell.00035.2014
PG 13
WC Cell Biology; Physiology
SC Cell Biology; Physiology
GA AP9AA
UT WOS:000342369400003
PM 25009110
ER
PT J
AU El-Hassar, L
Simen, AA
Duque, A
Patel, KD
Kaczmarek, LK
Arnsten, AFT
Yeckel, MF
AF El-Hassar, Lynda
Simen, Arthur A.
Duque, Alvaro
Patel, Kiran D.
Kaczmarek, Leonard K.
Arnsten, Amy F. T.
Yeckel, Mark F.
TI Disrupted in Schizophrenia 1 Modulates Medial Prefrontal Cortex
Pyramidal Neuron Activity Through cAMP Regulation of Transient Receptor
Potential C and Small-Conductance K+ Channels
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Ca-2 waves; DISC1; IP3; mGluR5; persistent activity; prefrontal cortex
ID DEPENDENT PROTEIN-KINASE; SPATIAL WORKING-MEMORY; POTASSIUM CHANNEL;
BIPOLAR DISORDER; RHESUS-MONKEYS; PSYCHIATRIC-ILLNESS; CANDIDATE GENE;
CAG REPEAT; DISC1; BRAIN
AB Background: Disrupted in schizophrenia 1 (DISC1) is a protein implicated in schizophrenia, bipolar disorder, major depressive disorder, and autism. To date, most of research examining DISC1 function has focused on its role in neurodevelopment, despite its presence throughout life. DISC1 also regulates cyclic adenosine monophosphate (cAMP) signaling by increasing type 4 phosphodiesterase catabolism of cAMP when cAMP concentrations are high. In this study, we tested the hypothesis that DISC1, through its regulation of cAMP, modulates I-SK and I-TRPC channel-mediated ionic currents that we have shown previously to regulate the activity of mature prefrontal cortical pyramidal neurons.
Methods: We used patch-clamp recordings in prefrontal cortical slices from adult rats in which DISC1 function was reduced in vivo by short hairpin RNA viral knockdown or in vitro by dialysis of DISC1 antibodies.
Results: We found that DISC1 disruption resulted in an increase of metabotropic glutamate receptor-induced intracellular calcium (Ca2+) waves, small-conductance K+ (SK)-mediated hyperpolarization and a decrease of transient receptor potential C (TRPC)-mediated sustained depolarization. Consistent with a role for DISC1 in regulation of cAMP signaling, forskolin-induced cAMP production also increased intracellular Ca2+ waves, I-SK and decreased I-TRPC. Lastly, inhibiting cAMP generation with guanfacine, an alpha 2A-noradrenergic agonist, normalized the function of SK and TRPC channels.
Conclusions: Based on our findings, we propose that diminished DISC1 function, such as occurs in some mental disorders, can lead to the disruption of normal patterns of prefrontal cortex activity through the loss of cAMP regulation of metabotropic glutamate receptor-mediated intracellular Ca2+ waves, SK and TRPC channel activity.
C1 [El-Hassar, Lynda; Duque, Alvaro; Arnsten, Amy F. T.; Yeckel, Mark F.] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
[Simen, Arthur A.; Patel, Kiran D.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06510 USA.
[Kaczmarek, Leonard K.] Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA.
[Arnsten, Amy F. T.; Yeckel, Mark F.] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA.
RP El-Hassar, L (reprint author), Yale Univ, Sch Med, Dept Neurobiol, SHMB 436,333 Cedar St, New Haven, CT 06510 USA.
EM lynda.elhassar@yale.edu
FU National Institute on Alcohol Abuse and Alcoholism [1RL1AA017536];
National Institute of Mental Health [RO1-MH067830, P50-MH068789];
National Alliance for Research on Schizophrenia and Depression
Distinguished Investigator Award (AFTA); National Institutes of Health
[DC 01919]; Kavli Foundation
FX This work was supported by the National Institute on Alcohol Abuse and
Alcoholism 1RL1AA017536 (AFTA and MFY); Kavli Foundation, National
Institute of Mental Health RO1-MH067830 and P50-MH068789 (AFTA and MFY);
National Alliance for Research on Schizophrenia and Depression
Distinguished Investigator Award (AFTA); and National Institutes of
Health Grant DC 01919 (LKK).
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NR 71
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD SEP 15
PY 2014
VL 76
IS 6
BP 476
EP 485
DI 10.1016/j.biopsych.2013.12.019
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AN8WT
UT WOS:000340887100011
PM 24560582
ER
PT J
AU Komulainen, E
Zdrojewska, J
Freemantle, E
Mohammad, H
Kulesskaya, N
Deshpande, P
Marchisella, F
Mysore, R
Hollos, P
Michelsen, KA
Magard, M
Rauvala, H
James, P
Coffey, ET
AF Komulainen, Emilia
Zdrojewska, Justyna
Freemantle, Erika
Mohammad, Hasan
Kulesskaya, Natalia
Deshpande, Prasannakumar
Marchisella, Francesca
Mysore, Raghavendra
Hollos, Patrik
Michelsen, Kimmo A.
Magard, Mats
Rauvala, Heikki
James, Peter
Coffey, Eleanor T.
TI JNK1 controls dendritic field size in L2/3 and L5 of the motor cortex,
constrains soma size, and influences fine motor coordination
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE JNK; dendrite; motor cortex; MAP2; microtubules; cytoskeleton;
schizophrenia; behavior
ID MICROTUBULE-ASSOCIATED PROTEIN-2; N-TERMINAL KINASE; SYNAPTIC
INTEGRATION; PREFRONTAL CORTEX; MOLECULAR-BASIS; PHOSPHORYLATION;
NEURONS; SCHIZOPHRENIA; MAP2; ARBORIZATION
AB Genetic anomalies on the JNK pathway confer susceptibility to autism spectrum disorders, schizophrenia, and intellectual disability. The mechanism whereby a gain or loss of function in JNK signaling predisposes to these prevalent dendrite disorders, with associated motor dysfunction, remains unclear. Here we find that JNK1 regulates the dendritic field of L2/3 and L5 pyramidal neurons of the mouse motor cortex (M1), the main excitatory pathway controlling voluntary movement. In Jnk1-/- mice, basal dendrite branching of L5 pyramidal neurons is increased in M1, as is cell soma size, whereas in L2/3, dendritic arborization is decreased. We show that JNK1 phosphorylates rat HMVV-MAP2 on T1619, T1622, and T1625 (Uniprot P15146) corresponding to mouse T1617, T1620, T1623, to create a binding motif, that is critical for MAP2 interaction with and stabilization of microtubules, and dendrite growth control. Targeted expression in M1 of GFP-HMVW-MAP2 that is pseudo-phosphorylated on T1619, T1622, and T1625 increases dendrite complexity in L2/3 indicating that JNK1 phosphorylation of HMVV-MAP2 regulates the dendritic field. Consistent with the morphological changes observed in L2/3 and L5, Jnk1-/mice exhibit deficits in limb placement and motor coordination, while stride length is reduced in older animals. In summary, JNK1 phosphorylates HMVV-MAP2 to increase its stabilization of microtubules while at the same time controlling dendrite fields in the main excitatory pathway of M1. Moreover, JNK1 contributes to normal functioning of fine motor coordination. We report for the first time, a quantitative Sholl analysis of dendrite architecture, and of motor behavior in Jnk1-/- mice. Our results illustrate the molecular and behavioral consequences of interrupted JNK1 signaling and provide new ground for mechanistic understanding of those prevalent neuropyschiatric disorders where genetic disruption of the JNK pathway is central.
C1 [Komulainen, Emilia; Zdrojewska, Justyna; Freemantle, Erika; Mohammad, Hasan; Deshpande, Prasannakumar; Marchisella, Francesca; Mysore, Raghavendra; Hollos, Patrik; Coffey, Eleanor T.] Abo Akad Univ, Turku Ctr Biotechnol, FIN-20520 Turku, Finland.
[Komulainen, Emilia; Zdrojewska, Justyna; Freemantle, Erika; Mohammad, Hasan; Deshpande, Prasannakumar; Marchisella, Francesca; Mysore, Raghavendra; Hollos, Patrik; Coffey, Eleanor T.] Univ Turku, FIN-20520 Turku, Finland.
[Kulesskaya, Natalia; Rauvala, Heikki] Univ Helsinki, Ctr Neurosci, Helsinki, Finland.
[Michelsen, Kimmo A.] Abo Akad Univ, Dept Biosci, FIN-20520 Turku, Finland.
[Magard, Mats; James, Peter] Lund Univ, Inst Immune Technol, Medicon Village, Lund, Sweden.
RP Coffey, ET (reprint author), Abo Akad Univ, Turku Ctr Biotechnol, Tykistokatu 6, FIN-20520 Turku, Finland.
EM ecoffey@btk.fi
FU Academy of Finland [255537, 218125, 125860]; Sigrid Juselius Foundation;
FP7 Marie Curie ITN r'BIRTH; Abo Akademi University; Finnish Graduate
School of Neuroscience; Turku Graduate School of Biomedical Sciences;
CIMO
FX This work was supported by grants to Eleanor Coffey from the Academy of
Finland (no. 255537; no. 218125, no. 125860), the Sigrid Juselius
Foundation, and the FP7 Marie Curie ITN r'BIRTH We acknowledge Abo
Akademi University for supporting Eleanor Coffey, the Finnish Graduate
School of Neuroscience for support to Emilia Komulainen and Justyna
Zdrojewska, and Turku Graduate School of Biomedical Sciences for support
to Prasannakumar Deshpande. We acknowledge CIMO for a grant to
Raghavendra. Mysore, We thank Elli Oksanen lair technical assistance
with molecular cloning. We are grateful to the Cell Imaging Core at
Turku Center for Biotechnology for providing imaging devices.
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NR 79
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 12
PY 2014
VL 8
DI 10.3389/fncel.2014.00272
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AS7WP
UT WOS:000344462900001
PM 25309320
ER
PT J
AU Kang, SS
Kurti, A
Fair, DA
Fryer, JD
AF Kang, Silvia S.
Kurti, Aishe
Fair, Damien A.
Fryer, John D.
TI Dietary intervention rescues maternal obesity induced behavior deficits
and neuroinflammation in offspring
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE Maternal obesity; Dietary intervention; Neuroinflammation; Behavior;
ASD; ADHD
ID HIGH-FAT DIET; BODY-MASS INDEX; POSTOPERATIVE COGNITIVE DECLINE;
NECROSIS-FACTOR-ALPHA; CORE GUT MICROBIOME; RETT-SYNDROME;
BRAIN-DEVELOPMENT; ADIPOSITY PRIOR; IMMUNE-SYSTEM; WEIGHT-GAIN
AB Obesity induces a low-grade inflammatory state and has been associated with behavioral and cognitive alterations. Importantly, maternal environmental insults can adversely impact subsequent offspring behavior and have been linked with neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (AHDH). It is unknown if maternal obesity significantly alters offspring sociability, a key ASD feature, and if altering maternal diet will provide an efficacious intervention paradigm for behavioral deficits. Here we investigated the impact of maternal high fat diet (HFD) and maternal dietary intervention during lactation on offspring behavior and brain inflammation in mice. We found that maternal HFD increased anxiety and decreased sociability in female offspring. Additionally, female offspring from HFD-fed dams also exhibited increased brain IL-1 beta and TNF alpha and microglial activation. Importantly, maternal dietary intervention during lactation was sufficient to alleviate social deficits and brain inflammation. Maternal obesity during gestation alone was sufficient to increase hyperactivity in male offspring, a phenotype that was not ameliorated by dietary intervention. These data suggest that maternal HFD acts as a prenatal/perinatal insult that significantly impacts offspring behavior and inflammation and that dietary intervention during lactation may be an easily translatable, efficacious intervention to offset some of these manifestations.
C1 [Kang, Silvia S.; Kurti, Aishe; Fryer, John D.] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA.
[Fryer, John D.] Mayo Grad Sch, Neurobiol Dis Program, Rochester, MN 55905 USA.
[Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Psychiat & Behav Neurosci, Portland, OR 97239 USA.
[Fair, Damien A.] Oregon Hlth & Sci Univ, Adv Imaging Res Ctr, Portland, OR 97239 USA.
RP Fryer, JD (reprint author), Mayo Clin, Dept Neurosci, 4500 San Pablo Rd, Jacksonville, FL 32224 USA.
EM fryer.john@mayo.edu
FU Mayo Foundation; GHR Foundation; Mayo Clinic Center for Individualized
Medicine; Mayo Clinic Gerstner Family Career Development Award; National
Institutes of Health/National Institute of Mental Health (NIH/NIMH) [R03
MH103632]; NIH/NIMH [R00 MH091238, R01 MH096773]
FX We would like to thank Chris Fulcher for technical support. Funding
sources for JDF: Mayo Foundation, GHR Foundation, Mayo Clinic Center for
Individualized Medicine, Mayo Clinic Gerstner Family Career Development
Award. Funding sources for SSK: National Institutes of Health/National
Institute of Mental Health (NIH/NIMH) R03 MH103632. Funding sources for
DAF: NIH/NIMH R00 MH091238 and R01 MH096773.
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NR 84
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1742-2094
J9 J NEUROINFLAMM
JI J. Neuroinflamm.
PD SEP 12
PY 2014
VL 11
AR 156
DI 10.1186/s12974-014-0156-9
PG 12
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AQ3LZ
UT WOS:000342696700001
PM 25212412
ER
PT J
AU Febo, M
Ferris, CF
AF Febo, Marcelo
Ferris, Craig F.
TI Oxytocin and vasopressin modulation of the neural correlates of
motivation and emotion: results from functional MRI studies in awake
rats
SO BRAIN RESEARCH
LA English
DT Article
DE Functional MRI; BOLD fMRI; Rat; Awake rat imaging; Oxytocin;
Vasopressin; Maternal rat; Maternal attachment; Fear; Anxiety;
Aggression; Aggressive behavior; Autism; Addiction
ID ANTERIOR CINGULATE CORTEX; NUCLEUS BASALIS MAGNOCELLULARIS;
MESSENGER-RIBONUCLEIC-ACID; AUTISM SPECTRUM DISORDERS; MIDBRAIN DOPAMINE
NEURONS; GAMMA-AMINOBUTYRIC-ACID; V1A RECEPTOR ANTAGONIST;
OLFACTORY-BULB REMOVAL; CENTRAL-NERVOUS-SYSTEM; MATERNAL-BEHAVIOR
AB Oxytocin and vasopressin modulate a range of species typical behavioral functions that include social recognition, maternal-infant attachment, and modulation of memory, offensive aggression, defensive fear reactions, and reward seeking. We have employed novel functional magnetic resonance mapping techniques in awake rats to explore the roles of these neuropeptides in the maternal and non-maternal brain. Results from the functional neuroimaging studies that are summarized here have directly and indirectly confirmed and supported previous findings. Oxytocin is released within the lactating rat brain during suckling stimulation and activates specific subcortical networks in the maternal brain. Both vasopressin and oxytocin modulate brain regions involved unconditioned fear, processing of social stimuli and the expression of agonistic behaviors. Across studies there are relatively consistent brain networks associated with internal motivational drives and emotional states that are modulated by oxytocin and vasopressin.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Elsevier B.V. All rights reserved.
C1 [Febo, Marcelo] Univ Florida, McKnight Brain Inst, Dept Psychiat, Gainesville, FL 32611 USA.
[Ferris, Craig F.] Northeastern Univ, Ctr Translat Neuroimaging, Boston, MA 02115 USA.
[Ferris, Craig F.] Northeastern Univ, Dept Pharmaceut Sci, Boston, MA 02115 USA.
[Ferris, Craig F.] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA.
RP Febo, M (reprint author), Univ Florida, McKnight Brain Inst, Dept Psychiat, Gainesville, FL 32611 USA.
EM c.ferris@neu.edu
FU NIH [DA019946]
FX Support was provided in part by NIH grant DA019946. Its contents are
solely the responsibility of the authors and do not necessarily
represent the official views of the National Institute of Health. The
NIH and NIDA had no role in study design; in the collection, analysis
and interpretation of data; in the writing of the report; and in the
decision to submit the article for publication. The authors have no
financial, commercial or personal conflict of interest to report.
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NR 130
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 8
EP 21
DI 10.1016/j.brainres.2014.01.019
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100002
PM 24486356
ER
PT J
AU Chang, SWC
Platt, ML
AF Chang, Steve W. C.
Platt, Michael L.
TI Oxytocin and social cognition in rhesus macaques: Implications for
understanding and treating human psychopathology
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Social cognition; Rhesus macaques; Amygdala; Social
decision-making; Social vigilance; Intranasal; Nebulizer; Inhalation
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; MATERNAL-BEHAVIOR;
HUMAN-BRAIN; PRIMATE AMYGDALA; PRAIRIE VOLES; MALE-RATS; VICARIOUS
REINFORCEMENT; AFFILIATIVE BEHAVIOR; STRESS RESPONSES
AB Converging evidence from humans and non-human animals indicates that the neurohypophysial hormone oxytocin (OT) evolved to serve a specialized function in social behavior in mammals. Although OT-based therapies are currently being evaluated as remedies for social deficits in neuropsychiatric disorders, precisely how OT regulates complex social processes remains largely unknown. Here we describe how a non-human primate model can be used to understand the mechanisms by which OT regulates social cognition and thereby inform its clinical application in humans. We focus primarily on recent advances in our understanding of OT-mediated social cognition in rhesus macaques (Macaca mulatta), supplemented by discussion of recent work in humans, other primates, and rodents. Together, these studies endorse the hypothesis that OT promotes social exploration both by amplifying social motivation and by attenuating social vigilance.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Chang, Steve W. C.] Yale Univ, Dept Psychol, New Haven, CT 06511 USA.
[Chang, Steve W. C.; Platt, Michael L.] Duke Univ, Duke Inst Brain Sci, Durham, NC 27708 USA.
[Chang, Steve W. C.; Platt, Michael L.] Duke Univ, Levine Sci Res Ctr B203, Ctr Cognit Neurosci, Durham, NC 27708 USA.
[Platt, Michael L.] Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27710 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 Chang, SWC (reprint author), Yale Univ, Dept Psychol, New Haven, CT 06511 USA.
EM steve.chang@yale.edu
FU National Institute for Mental Health [K99-MH099093, R01-MH086712];
Department of Defense [W81XWH-11-1-0584]
FX This work was supported by K99-MH099093 (S.W.C.C.) and R01-MH086712
(M.L.P. and S.W.C.C.) from the National Institute for Mental Health, and
W81XWH-11-1-0584 from the Department of Defense (M.L.P. and S.W.C.C.).
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NR 119
TC 5
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 57
EP 68
DI 10.1016/j.brainres.2013.11.006
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100004
PM 24231551
ER
PT J
AU Evans, SL
Dal Monte, O
Noble, P
Averbeck, BB
AF Evans, Simon L.
Dal Monte, Olga
Noble, Pamela
Averbeck, Bruno B.
TI Intranasal oxytocin effects on social cognition: A critique
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Intranasal administration; CSF; Social stimuli; Pro-social
neuropeptide; Anxiety; Social cognition
ID AUTISM SPECTRUM DISORDERS; MALE PRAIRIE VOLES; CEREBROSPINAL-FLUID;
PLASMA OXYTOCIN; PSYCHOSOCIAL STRESS; PARTNER PREFERENCE; INCREASES
TRUST; BRAIN RESPONSES; RHESUS MACAQUES; MACACA-MULATTA
AB The last decade has seen a large number of published findings supporting the hypothesis that intranasally delivered oxytocin (OT) can enhance the processing of social stimuli and regulate social emotion-related behaviors such as trust, memory, fidelity, and anxiety. The use of nasal spray for administering OT in behavioral research has become a standard method, but many questions still exist regarding its action. OT is a peptide that cannot cross the blood-brain barrier, and it has yet to be shown that it does indeed reach the brain when delivered intranasally. Given the evidence, it seems highly likely that OT does affect behavior when delivered as a nasal spray. These effects may be driven by at least three possible mechanisms. First, the intranasally delivered OT may diffuse directly into the CNS where it directly engages OT receptors. Second, the intranasally delivered OT may trigger increased central release via an indirect peripheral mechanism. And third, the indirect peripheral effects may directly lead to behavioral effects via some mechanism other than increased central release. Although intranasally delivered OT likely affects behavior, there are conflicting reports as to the exact nature of those behavioral changes: some studies suggest that OT effects are not always "pro-social" and others suggest effects on social behaviors are due to a more general anxiolytic effect. In this critique, we draw from work in healthy human populations and the animal literature to review the mechanistic aspects of intranasal OT delivery, and to discuss intranasal OT effects on social cognition and behavior. We conclude that future work should control carefully for anxiolytic and gender effects, which could underlie inconsistencies in the existing literature.
This article is part of a Special Issue entitled Oxytocin and Social Behav. Published by Elsevier B.V.
C1 [Evans, Simon L.] Univ Sussex, Sch Psychol, Brighton BN1 9QG, E Sussex, England.
[Dal Monte, Olga; Noble, Pamela; Averbeck, Bruno B.] NIMH, Lab Neuropsychol, NIH, Bethesda, MD USA.
[Dal Monte, Olga] Univ Turin, Dept Neuropsychol, Turin, Italy.
RP Averbeck, BB (reprint author), Univ Sussex, Sch Psychol, Brighton BN1 9QG, E Sussex, England.
EM bruno.averbeck@nih.gov
FU National Institute of Mental Health, NIMH
FX This research was supported by the Intramural Research Program of the
National Institute of Mental Health, NIMH.
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NR 104
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 69
EP 77
DI 10.1016/j.brainres.2013.11.008
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100005
PM 24239931
ER
PT J
AU Pedersen, CA
AF Pedersen, Cort A.
TI Schizophrenia and alcohol dependence: Diverse clinical effects of
oxytocin and their evolutionary origins
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Schizophrenia; Social cognition; Alcohol withdrawal; Alcohol
dependence; Treatment
ID RECEPTOR MESSENGER-RNA; INCREASES EXTRACELLULAR DOPAMINE; ADJUNCTIVE
INTRANASAL OXYTOCIN; OBSESSIVE-COMPULSIVE DISORDER; NATIONAL
EPIDEMIOLOGIC SURVEY; VOLES MICROTUS-OCHROGASTER; MEDIAL PREFRONTAL
CORTEX; VENTRAL TEGMENTAL AREA; PITUITARY-ADRENAL AXIS; FEMALE PRAIRIE
VOLES
AB Beginning in 1979 with the first report that central administration of oxytocin stimulates maternal behavior in virgin rats, decades of animal research and more recent human studies have demonstrated that oxytocin has many pro-social effects. These many findings suggest that oxytocin may be an effective treatment for social deficits that are hallmark features of disorders such as autism and schizophrenia. Effects in preclinical animal models also imply that oxytocin may be an efficacious pharmacotherapy in a wide range of psychiatric disorders including psychoses and addictions. To date, 3 small clinical trials found that daily intranasal oxytocin treatment for 2-8 weeks significantly reduced psychotic symptoms in schizophrenia. Two of these trials also found improvement in social cognition or neurocognition, areas in which patients have significant deficiencies that do not respond to conventional antipsychotic treatment and contribute to disability. In another small trial, intranasal oxytocin potently blocked alcohol withdrawal. After reviewing the rationale for these trials, they are described in more detail. Questions are then asked followed by discussions of the large gaps in our knowledge about brain oxytocin systems in humans. The hope is to highlight important directions for future investigations of the role of oxytocin in the pathophysiology of psychotic disorders and addictions and to extend clinical research in these areas. Heretofore unrecognized roles for which oxytocin may have been selected during the evolution of placental mammalian maternal-infant and other social attachments are considered as possible origins of oxytocin antipsychotic and antiaddiction effects.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Published by Elsevier B.V.
C1 Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
RP Pedersen, CA (reprint author), Univ N Carolina, Dept Psychiat, CB 7160, Chapel Hill, NC 27599 USA.
EM cort_pedersen@med.unc.edu
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NR 255
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 102
EP 123
DI 10.1016/j.brainres.2014.01.050
PG 22
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100007
PM 24508579
ER
PT J
AU Kanat, M
Heinrichs, M
Domes, G
AF Kanat, Manuela
Heinrichs, Markus
Domes, Gregor
TI Oxytocin and the social brain: Neural mechanisms and perspectives in
human research
SO BRAIN RESEARCH
LA English
DT Article
DE Functional imaging; Oxytocin; Brain activity; Social behavior; Social
cognition
ID AUTISM SPECTRUM DISORDERS; MATERNAL LOVE WITHDRAWAL; MENSTRUAL-CYCLE
PHASE; ADULT HUMAN BRAIN; INTRANASAL OXYTOCIN; SEX-DIFFERENCES; AMYGDALA
ACTIVATION; FACIAL EXPRESSIONS; MODULATES AMYGDALA; ANXIETY DISORDER
AB The present paper summarizes functional imaging studies investigating the effects of intranasal oxytocin (OT) on brain responses to social stimuli. We aim to integrate previous research, point to unresolved issues and highlight perspectives for future studies. The studies so far have focused on identifying neural circuits underlying social information processing which are particularly sensitive to modulations by exogenous OT. Most consistently, stimulus-related responses of the amygdala and associated areas within the prefrontal and temporal cortices have been found to be modulated by OT administration. However, there are a number of unresolved issues related to the possible role of sex differences and hormonal status, genetic variability, and individual differences in socio-cognitive functioning. Future studies focusing on these open questions are expected to contribute to a more nuanced understanding of the role of the central OT system in humans and may provide the basis for novel treatment approaches for mental disorders characterized by social deficits.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Kanat, Manuela; Heinrichs, Markus; Domes, Gregor] Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany.
[Kanat, Manuela; Heinrichs, Markus; Domes, Gregor] Univ Freiburg, Univ Med Ctr, Freiburg Brain Imaging Ctr, D-79106 Freiburg, Germany.
RP Domes, G (reprint author), Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, Stefan Meier Str 8, D-79104 Freiburg, Germany.
EM domes@psychologie.uni-freiburg.de
RI Domes, Gregor/J-3369-2013
OI Domes, Gregor/0000-0001-5908-4374
FU Deutsche Forschungsgemeinschaft [DFG 1312/2-1]
FX We gratefully acknowledge the valuable discussion with Dr. Frances S.
Chen. Preparation of the manuscript was supported by a grant from the
Deutsche Forschungsgemeinschaft (DFG 1312/2-1).
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NR 118
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 160
EP 171
DI 10.1016/j.brainres.2013.11.003
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100012
PM 24216134
ER
PT J
AU Francis, SM
Sagar, A
Leuin-Decanini, T
Liu, W
Carter, CS
Jacob, S
AF Francis, S. M.
Sagar, A.
Levin-Decanini, T.
Liu, W.
Carter, C. S.
Jacob, S.
TI Oxytocin and vasopressin systems in genetic syndromes and
neurodevelopmental disorders
SO BRAIN RESEARCH
LA English
DT Article
DE Oxytocin; Vasopressin; Autism; Prader-Willi; Williams; Fragile X
ID FRAGILE-X-SYNDROME; PRADER-WILLI-SYNDROME; AUTISM SPECTRUM DISORDERS;
MENTAL-RETARDATION PROTEIN; GENOME MICROARRAY ANALYSIS; LONG-TERM
POTENTIATION; WHOLE-BLOOD SEROTONIN; FMR1 KNOCKOUT MOUSE;
SOCIAL-BEHAVIOR; 1ST-DEGREE RELATIVES
AB Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2014 Published by Elsevier B.V.
C1 [Francis, S. M.; Levin-Decanini, T.; Jacob, S.] Univ Minnesota, Dept Psychiat, Minneapolis, MN 55455 USA.
[Sagar, A.] Univ Calif Irvine, Dept Psychiat & Human Behav, Irvine, CA 92717 USA.
[Liu, W.] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA.
[Carter, C. S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Jacob, S (reprint author), Univ Minnesota, Wallin Med Biosci Bldg,2101 6th St SE, Minneapolis, MN 55455 USA.
EM sjacob@umn.edu
FU NIH [K23MH082121]
FX This work was supported in part by NIH K23MH082121 (SJ). The authors
would like to acknowledge Dr. John Larson for his contribution of the
Frm1 KO mice. We would also like to thank Jeanine Leary and Jennifer
Speak for their assistance in manuscript formatting and preparation.
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NR 205
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 199
EP 218
DI 10.1016/j.brainres.2014.01.021
PG 20
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100016
PM 24462936
ER
PT J
AU Kim, S
Soeken, TA
Cromer, SJ
Martinez, SR
Hardy, LR
Strathearn, L
AF Kim, Sohye
Soeken, Timothy A.
Cromer, Sara J.
Martinez, Sheila R.
Hardy, Leah R.
Strathearn, Lane
TI Oxytocin and postpartum depression: Delivering on what's known and
what's not
SO BRAIN RESEARCH
LA English
DT Article
DE Postpartum depression; Oxytocin; Treatment; Maternal caregiving; Infant
ID RANDOMIZED-CONTROLLED-TRIAL; PITUITARY-ADRENAL AXIS; HYPOTHALAMIC
PARAVENTRICULAR NUCLEUS; CORTICOTROPIN-RELEASING HORMONE; AUTISM
SPECTRUM DISORDERS; RECEPTOR-ALPHA EXPRESSION;
MOTHER-CHILD-RELATIONSHIP; INFANT-FEEDING OUTCOMES; SOCIAL ANXIETY
DISORDER; VENTRAL TEGMENTAL AREA
AB The role of oxytocin in the treatment of postpartum depression has been a topic of growing interest. This subject carries important implications, given that postpartum depression can have detrimental effects on both the mother and her infant, with lifelong consequences for infant socioemotional and cognitive development. In recent years, oxytocin has received attention for its potential role in many neuropsychiatric conditions beyond its well-described functions in childbirth and lactation. In the present review, we present available data on the clinical characteristics and neuroendocrine foundations of postpartum depression. We outline current treatment modalities and their limitations, and proceed to evaluate the potential role of oxytocin in the treatment of postpartum depression. The aim of the present review is twofold: (a) to bring together evidence from animal and human research concerning the role of oxytocin in postpartum depression, and (b) to highlight areas that deserve further research in order to bring a fuller understanding of oxytocin's therapeutic potential.
This article is part of a Special Issue entitled Oxytocin and Social Behav. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Kim, Sohye; Soeken, Timothy A.; Cromer, Sara J.; Martinez, Sheila R.; Hardy, Leah R.; Strathearn, Lane] Baylor Coll Med, Houston, TX 77030 USA.
[Kim, Sohye; Martinez, Sheila R.; Hardy, Leah R.; Strathearn, Lane] Baylor Coll Med, Dept Pediat, Childrens Nutr Res Ctr, Attachment & Neurodev Lab, Houston, TX 77030 USA.
[Kim, Sohye; Strathearn, Lane] Baylor Coll Med, Menninger Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Strathearn, Lane] Texas Childrens Hosp, Meyer Ctr Dev Pediat, Houston, TX 77054 USA.
RP Strathearn, L (reprint author), Baylor Coll Med, Texas Childrens Hosp, Dept Pediat, Attachmen & Neurodev Lab,Childrens Nutr Res Ctr, 1100 Bates St,Suite 4004 B, Houston, TX 77030 USA.
EM lanes@bcm.edu
FU Eunice Kennedy Shriver National Institute of Child Health and Human
Development [R01HD065819]; National Institute on Drug Abuse
[R01DA026437]
FX This work was supported by the Eunice Kennedy Shriver National Institute
of Child Health and Human Development [R01HD065819]; and the National
Institute on Drug Abuse [R01DA026437]. The content is solely the
responsibility of the authors and does not necessarily represent the
official views of these institutes or the National Institutes of Health.
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NR 242
TC 4
Z9 5
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0006-8993
EI 1872-6240
J9 BRAIN RES
JI Brain Res.
PD SEP 11
PY 2014
VL 1580
SI SI
BP 219
EP 232
DI 10.1016/j.brainres.2013.11.009
PG 14
WC Neurosciences
SC Neurosciences & Neurology
GA AQ1MS
UT WOS:000342546100017
PM 24239932
ER
PT J
AU Duzyj, CM
Paidas, MJ
Jebailey, L
Huang, JS
Barnea, ER
AF Duzyj, Christina M.
Paidas, Michael J.
Jebailey, Lellean
Huang, Jing Shun
Barnea, Eytan R.
TI PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective
decidual genes: effect negated by epidermal growth factor
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Embryogenesis; Neural development; Preimplantation factor (PIF); Neural
disease; Uterine environment
ID QUINONE REDUCTASE-ACTIVITY; 1ST TRIMESTER; INTERACTING PROTEIN;
MULTIPLE-SCLEROSIS; EMBRYO DEVELOPMENT; CEREBRAL-CORTEX; CELL-LINES;
EXPRESSION; DIFFERENTIATION; TISSUES
AB Background: Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual factors. Beyond altered genetics/epigenetics, post-natal diseases may initiate at prenatal/neonatal, post-natal period, or through a continuum. Preimplantation factor (PIF) secreted by viable embryos promotes implantation and trophoblast invasion. Synthetic PIF reverses neuroinflammation in non-pregnant models. PIF targets embryo proteins that protect against oxidative stress and protein misfolding. We report of PIF's embryotrophic role and potential to prevent developmental disorders by regulating uterine milieu at implantation and first trimester.
Methods: PIF's effect on human implantation (human endometrial stromal cells (HESC)) and first-trimester decidua cultures (FTDC) was examined, by global gene expression (Affymetrix), disease-biomarkers ranking (GeneGo), neuro-specific genes (Ingenuity) and proteins (mass-spectrometry). PIF co-cultured epidermal growth factor (EGF) in both HESC and FTDC (Affymetrix) was evaluated.
Results: In HESC, PIF promotes neural differentiation and transmission genes (TLX2, EPHA10) while inhibiting retinoic acid receptor gene, which arrests growth. PIF promotes axon guidance and downregulates EGF-dependent neuroregulin signaling. In FTDC, PIF promotes bone morphogenetic protein pathway (SMAD1, 53-fold) and axonal guidance genes (EPH5) while inhibiting PPP2R2C, negative cell-growth regulator, involved in Alzheimer's and amyotrophic lateral sclerosis. In HESC, PIF affects angiotensin via beta-arrestin, transforming growth factor-beta (TGF-beta), notch, BMP, and wingless-int (WNT) signaling pathways that promote neurogenesis involved in childhood neurodevelopmental diseases-autism and also affected epithelial-mesenchymal transition involved in neuromuscular disorders. In FTDC, PIF upregulates neural development and hormone signaling, while downregulating genes protecting against xenobiotic response leading to connective tissue disorders.
In both HESC and FTDC, PIF affects neural development and transmission pathways. In HESC interactome, PIF promotes FUS gene, which controls genome integrity, while in FTDC, PIF upregulates STAT3 critical transcription signal. EGF abolished PIF's effect on HESC, decreasing metalloproteinase and prolactin receptor genes, thereby interfering with decidualization, while in FTDC, EGF co-cultured with PIF reduced ZHX2, gene that regulates neural AFP secretion.
Conclusions: PIF promotes decidual trophic genes and proteins to regulate neural development. By regulating the uterine milieu, PIF may decrease embryo vulnerability to post-natal neurodevelopmental disorders. Examination of PIF-based intervention strategies used during embryogenesis to improve pregnancy prognosis and reduce post-natal vulnerability is clearly in order.
C1 [Duzyj, Christina M.; Paidas, Michael J.] Yale Univ, Sch Med, Yale Women & Childrens Ctr Blood Disorders, Dept Obstet Gynecol & Reprod Sci, New Haven, CT 06520 USA.
[Jebailey, Lellean] GeneGo Inc, Carlsbad, CA 92008 USA.
[Huang, Jing Shun] Ohio State Univ, Dept Obstet & Gynecol, Reprod Biol Unit, Columbus, OH 43210 USA.
[Barnea, Eytan R.] Soc Invest Early Pregnancy, Cherry Hill, NJ 08003 USA.
[Barnea, Eytan R.] BioIncept LLC PIF Proprietary, Cherry Hill, NJ 08003 USA.
RP Barnea, ER (reprint author), Soc Invest Early Pregnancy, 1697 Lark Lane, Cherry Hill, NJ 08003 USA.
EM Barnea@earlypregnancy.org
FU BioIncept, LLC; National Institutes of Health [5R01HD056123-02]
FX This work was supported through an unrestricted grant by BioIncept, LLC
(MJP) and National Institutes of Health (grant number 5R01HD056123-02)
(SJH). All other authors declare no competing interests.
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NR 64
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1866-1947
EI 1866-1955
J9 J NEURODEV DISORD
JI J. Neurodev. Disord.
PD SEP 11
PY 2014
VL 6
AR 36
DI 10.1186/1866-1955-6-36
PG 18
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AP8ZR
UT WOS:000342368500001
ER
PT J
AU Cai, XY
Evrony, GD
Lehmann, HS
Elhosary, PC
Mehta, BK
Poduri, A
Walsh, CA
AF Cai, Xuyu
Evrony, Gilad D.
Lehmann, Hillel S.
Elhosary, Princess C.
Mehta, Bhaven K.
Poduri, Annapurna
Walsh, Christopher A.
TI Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic
Copy-Number Variation in the Human Brain
SO CELL REPORTS
LA English
DT Article
ID RARE DE-NOVO; MUTATIONS; DISEASE; NUCLEOTIDE; DISORDERS; NEURONS;
AUTISM; TUMOR
AB De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single cells, including >160 neurons from three normal and two pathological human brains, sensitively identified germline trisomy of chromosome 18 but found most (>= 95%) neurons in normal brain tissue to be euploid. Analysis of a patient with hemimegalencephaly (HMG) due to a somatic CNV of chromosome 1q found unexpected tetrasomy 1q in similar to 20% of neurons, suggesting that CNVs in a minority of cells can cause widespread brain dysfunction. Single-cell analysis identified large (>1 Mb) clonal CNVs in lymphoblasts and in single neurons from normal human brain tissue, suggesting that some CNVs occur during neurogenesis. Many neurons contained one or more large candidate private CNVs, including one at chromosome 15q13.2-13.3, a site of duplication in neuropsychiatric conditions. Large private and clonal somatic CNVs occur in normal and diseased human brains.
C1 [Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA.
[Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A.] Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA 02138 USA.
[Cai, Xuyu; Evrony, Gilad D.; Walsh, Christopher A.] Harvard Univ, Sch Med, Program Biol & Biomed Sci, Boston, MA 02115 USA.
[Poduri, Annapurna] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
[Poduri, Annapurna] Harvard Univ, Sch Med, Boston, MA 02115 USA.
RP Walsh, CA (reprint author), Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA.
EM christopher.walsh@childrens.harvard.edu
FU NIGMS [T32GM007726]; NIH MSTP grant [T32GM007753]; Louis Lange III
Scholarship in Translational Research; NINDS [R01NS079277, R01NS035129];
NIMH [1RC2MH089952]; Manton Center for Orphan Disease Research
FX X. C. was supported by the NIGMS (T32GM007726) and was a Stuart H. Q.
and Victoria Quan Fellow in Neuroscience. G. D. E. was supported by NIH
MSTP grant T32GM007753 and by the Louis Lange III Scholarship in
Translational Research. C. A. W. was supported by the NINDS (R01NS079277
and R01NS035129), the NIMH (1RC2MH089952), and the Manton Center for
Orphan Disease Research. C. A. W. is a Distinguished Investigator of the
Paul G. Allen Family Foundation and is an Investigator of the Howard
Hughes Medical Institute.
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NR 31
TC 11
Z9 11
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 2211-1247
J9 CELL REP
JI Cell Reports
PD SEP 11
PY 2014
VL 8
IS 5
BP 1280
EP 1289
DI 10.1016/j.celrep.2014.07.043
PG 10
WC Cell Biology
SC Cell Biology
GA AO8AO
UT WOS:000341574800006
PM 25159146
ER
PT J
AU Chuang, HC
Huang, TN
Hsueh, YP
AF Chuang, Hsiu-Chun
Huang, Tzyy-Nan
Hsueh, Yi-Ping
TI Neuronal excitation upregulates Tbr1, a high-confidence risk gene of
autism mediating Grin2b expression in the adult brain
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE autism; Grin2b; immediate early gene; neuronal activation; Tbr1
ID IMMEDIATE-EARLY GENES; DE-NOVO MUTATIONS; NERVOUS-SYSTEM; BASOLATERAL
AMYGDALA; SYNAPTIC PLASTICITY; SPECTRUM DISORDERS; MENTAL-RETARDATION;
SOCIAL-BEHAVIOR; CEREBRAL-CORTEX; CYCLOSPORINE-A
AB The activity-regulated gene expression of transcription factors is required for neural plasticity and function in response to neuronal stimulation. T-brain-1 (TBR1), a critical neuron-specific transcription factor for forebrain development, has been recognized as a high-confidence risk gene for autism spectrum disorders. Here, we show that in addition to its role in brain development, Tbr1 responds to neuronal activation and further modulates the Grin2b expression in adult brains and mature neurons. The expression levels of Tbr1 were investigated using both immunostaining and quantitative reverse transcription polymerase chain reaction (RT-PCR) analyses. We found that the mRNA and protein expression levels of Tbr1 are induced by excitatory synaptic transmission driven by bicuculline or glutamate treatment in cultured mature neurons. The upregulation of Tbr1 expression requires the activation of both alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) and N-methyl-D-aspartate (NMDA) receptors. Furthermore, behavioral training triggers Tbr1 induction in the adult mouse brain. The elevation of Tbr1 expression is associated with Grin2b upregulation in both mature neurons and adult brains. Using Tbr1-deficient neurons, we further demonstrated that TBR1 is required for the induction of Grin2b upon neuronal activation. Taken together with the previous studies showing that TBR1 binds the Grin2b promoter and controls expression of luciferase reporter driven by Grin2b promoter, the evidence suggests that TBR1 directly controls Grin2b expression in mature neurons. We also found that the addition of the calcium/calmodulin-dependent protein kinase II (CaMKII) antagonist KN-93, but not the calcium-dependent phosphatase calcineurin antagonist cyclosporin A, to cultured mature neurons noticeably inhibited Tbr1 induction, indicating that neuronal activation upregulates Tbr1 expression in a CaMKII-dependent manner. In conclusion, our study suggests that Tbr1 plays an important role in adult mouse brains in response to neuronal activation to modulate the activity-regulated gene transcription required for neural plasticity.
C1 [Chuang, Hsiu-Chun; Hsueh, Yi-Ping] Natl Def Med Ctr, Grad Inst Life Sci, Taipei, Taiwan.
[Chuang, Hsiu-Chun; Huang, Tzyy-Nan; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei 11529, Taiwan.
RP Hsueh, YP (reprint author), Acad Sinica, Inst Mol Biol, 128 Acad Rd,Sect 2, Taipei 11529, Taiwan.
EM yph@gate.sinica.edu.tw
FU Academia Sinica [AS-103-TP-B05]; Ministry of Science and Technology
(MOST) [102-2321-B-001-029, 102-2321-B-001.054, 103-2321-B-001-002,
103-2321-B-001-018]
FX We thank Profs. John Rubenstein and Robert Hevner for the
Tbr1+/- mice, the Genomic Core of the Institute of Molecular
Biology, Academia Sinica, for the technical assistance and members of
the Hsueh lab for relabeling samples for the blind test. This work was
supported by grants from the Academia Sinica (AS-103-TP-B05 to Yi-Ping
Hsueh) and the Ministry of Science and Technology (MOST
102-2321-B-001-029, 102-2321-B-001.054, 103-2321-B-001-002, and
103-2321-B-001-018 to Yi-Ping Hsueh).
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NR 66
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5102
J9 FRONT CELL NEUROSCI
JI Front. Cell. Neurosci.
PD SEP 10
PY 2014
VL 8
AR 280
DI 10.3389/fncel.2014.00280
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AS7XC
UT WOS:000344464100001
PM 25309323
ER
PT J
AU Crider, A
Thakkar, R
Ahmed, AO
Pillai, A
AF Crider, Amanda
Thakkar, Roshni
Ahmed, Anthony O.
Pillai, Anilkumar
TI Dysregulation of estrogen receptor beta (ER beta), aromatase (CYP19A1),
and ER co-activators in the middle frontal gyrus of autism spectrum
disorder subjects
SO MOLECULAR AUTISM
LA English
DT Article
DE Aromatase; Autism; Estrogen; Receptor; Sex
ID NEUROPSYCHIATRIC DISORDERS; TRANSCRIPTIONAL ACTIVATION; CO-REPRESSORS;
BRAIN; BEHAVIOR; ANXIETY; GENE; MICE; EXPRESSION; STEROIDS
AB Background: Autism spectrum disorders (ASD) are much more common in males than in females. Molecular alterations within the estrogen receptor (ER) signaling pathway may contribute to the sex difference in ASD, but the extent of such abnormalities in the brain is not known.
Methods: Postmortem middle frontal gyrus tissues (13 ASD and 13 control subjects) were used. The protein levels were examined by western blotting. The gene expression was determined by qRT-PCR.
Results: Gene expression analysis identified a 35% decrease in ER beta mRNA expression in the middle frontal gyrus of ASD subjects. In addition, a 38% reduction in aromatase (CYP19A1) mRNA expression was observed in ASD subjects. We also found significant decreases in ER co-activators that included a 34% decrease in SRC-1, a 77% decrease in CBP, and a 52% decrease in P/CAF mRNA levels in ASD subjects relative to controls. There were no differences in the mRNA levels of TIF-2, AIB-1 (ER co-activators), ER co-repressors (SMRT and nCoR) and ERa in the middle frontal gyrus of ASD subjects as compared to controls. We observed significant correlations between ER beta, CYP19A1, and co-activators in the study subjects. Immunoblot analysis further confirmed the changes in ER beta and aromatase at the protein level in the control and ASD subjects.
Conclusions: These results, for the first time, provide the evidence of the dysregulation of ER beta and co-factors in the brain of subjects with ASD.
C1 [Crider, Amanda; Ahmed, Anthony O.; Pillai, Anilkumar] Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, Augusta, GA 30912 USA.
[Thakkar, Roshni] Georgia Regents Univ, Med Coll Georgia, Dept Neurosci & Regenerat Med, Augusta, GA 30912 USA.
RP Pillai, A (reprint author), Georgia Regents Univ, Med Coll Georgia, Dept Psychiat & Hlth Behav, 997 St Sebastian Way, Augusta, GA 30912 USA.
EM apillai@gru.edu
FU NIH [HHSN275200900011C, NO1-HD-9-0011]
FX The authors would like to thank Diya Peter for her technical assistance.
Human postmortem samples were obtained from the NICHD Brain and Tissue
Bank for Developmental Disorders at the University of Maryland,
Baltimore, MD, USA. The Bank is funded by NIH Contract No.
#HHSN275200900011C, Ref. No. NO1-HD-9-0011.
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NR 41
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD SEP 9
PY 2014
VL 5
AR 46
DI 10.1186/2040-2392-5-46
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AO9GU
UT WOS:000341664900001
PM 25221668
ER
PT J
AU Puckering, C
Allely, CS
Doolin, O
Purves, D
McConnachie, A
Johnson, PCD
Marwick, H
Heron, J
Golding, J
Gillberg, C
Wilson, P
AF Puckering, Christine
Allely, Clare S.
Doolin, Orla
Purves, David
McConnachie, Alex
Johnson, Paul C. D.
Marwick, Helen
Heron, Jon
Golding, Jean
Gillberg, Christopher
Wilson, Philip
TI Association between parent-infant interactions in infancy and disruptive
behaviour disorders at age seven: a nested, case-control ALSPAC study
SO BMC PEDIATRICS
LA English
DT Article
DE ALSPAC; Disruptive behaviour disorders; Parent-infant interactions;
Mellow Parenting Observation System
ID CONDUCT DISORDER; ANTISOCIAL-BEHAVIOR; CONTROLLED-TRIAL; CHILD; RISK;
PSYCHOPATHOLOGY; COHORT; BOYS; INTERVENTION
AB Background: Effective early intervention to prevent oppositional/conduct disorders requires early identification of children at risk. Patterns of parent-child interaction may predict oppositional/conduct disorders but large community-based prospective studies are needed to evaluate this possibility.
Methods: We sought to examine whether the Mellow Parenting Observational System (MPOS) used to assess parent-infant interactions at one year was associated with psychopathology at age 7. The MPOS assesses positive and negative interactions between parent and child. It examines six dimensions: anticipation of child's needs, responsiveness, autonomy, cooperation, containment of child distress, and control/conflict; these are summed to produce measures of total positive and negative interactions. We examined videos from the Avon Longitudinal Study of Parents and Children (ALSPAC) sub-cohort who attended the 'Children in Focus' clinic at one year of age. Our sample comprised 180 videos of parent-infant interaction: 60 from infants who received a psychiatric diagnostic categorisation at seven years and 120 randomly selected controls who were group-matched on sex.
Results: A negative association between positive interactions and oppositional/conduct disorders was found. With the exception of pervasive developmental disorders (autism), an increase of one positive interaction per minute predicted a 15% (95% CI: 4% to 26%) reduction in the odds of the infant being case diagnosed. There was no statistically significant relationship between negative parenting interactions and oppositional/conduct disorders, although negative interactions were rarely observed in this setting.
Conclusions: The Mellow Parenting Observation System, specifically low scores for positive parenting interactions (such as Responsiveness which encompasses parental warmth towards the infant), predicted later psychiatric diagnostic categorisation of oppositional/conduct disorders.
C1 [Puckering, Christine; Gillberg, Christopher] Univ Glasgow, RHSC Yorkhill, Inst Hlth & Wellbeing, Glasgow G3 8SJ, Lanark, Scotland.
[Allely, Clare S.] Univ Salford, Sch Hlth Sci, Salford M6 6PU, Lancs, England.
[Doolin, Orla; Purves, David; McConnachie, Alex; Johnson, Paul C. D.] Univ Glasgow, Robertson Ctr Biostat, Glasgow G12 8QQ, Lanark, Scotland.
[Marwick, Helen] Univ Strathclyde, Natl Ctr Autism Studies, Glasgow G1 1XQ, Lanark, Scotland.
[Heron, Jon] Univ Bristol, Sch Social & Community Med, Ctr Child & Adolescent Hlth, Bristol, Avon, England.
[Golding, Jean] Univ Bristol, Sch Social & Community Med, Ctr Mental Hlth Addict & Suicide Res, Bristol, Avon, England.
[Wilson, Philip] Univ Aberdeen, Ctr Hlth Sci, Ctr Rural Hlth, Inverness IV2 3JH, Scotland.
RP McConnachie, A (reprint author), Univ Glasgow, Robertson Ctr Biostat, Boyd Orr Bldg, Glasgow G12 8QQ, Lanark, Scotland.
EM alex.mcconnachie@glasgow.ac.uk
RI Johnson, Paul/O-9695-2014
OI Johnson, Paul/0000-0001-6663-7520
FU Yorkhill Children's Foundation; Gillberg Neuropsychiatry Centre;
Waterloo Foundation
FX ALSPAC currently receives core support from Wellcome Trust, Medical
Research Council and the University of Bristol. This project was
specifically funded by small grants from the Yorkhill Children's
Foundation, the Gillberg Neuropsychiatry Centre and the Waterloo
Foundation. This article is the work of the authors, and Philip Wilson
will serve as guarantor for the contents of this article.
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NR 37
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 6
PY 2014
VL 14
AR 223
DI 10.1186/1471-2431-14-223
PG 8
WC Pediatrics
SC Pediatrics
GA AP6DT
UT WOS:000342168400001
PM 25193601
ER
PT J
AU Horlin, C
Falkmer, M
Parsons, R
Albrecht, MA
Falkmer, T
AF Horlin, Chiara
Falkmer, Marita
Parsons, Richard
Albrecht, Matthew A.
Falkmer, Torbjorn
TI The Cost of Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID BEHAVIORAL TREATMENT; MEDIATION ANALYSIS; CHILDREN; INTERVENTION;
DIAGNOSIS; FAMILIES; PARENTS; ADOS; AGE
AB Objective: A diagnosis of an autism spectrum disorders is usually associated with substantial lifetime costs to an individual, their family and the community. However, there remains an elusive factor in any cost-benefit analysis of ASD diagnosis, namely the cost of not obtaining a diagnosis. Given the infeasibility of estimating the costs of a population that, by its nature, is inaccessible, the current study compares expenses between families whose children received a formal ASD diagnosis immediately upon suspecting developmental atypicality and seeking advice, with families that experienced a delay between first suspicion and formal diagnosis.
Design: A register based questionnaire study covering all families with a child with ASD in Western Australia.
Participants: Families with one or more children diagnosed with an ASD, totalling 521 children diagnosed with an ASD; 317 records were able to be included in the final analysis.
Results: The median family cost of ASD was estimated to be AUD $ 34,900 per annum with almost 90% of the sum ($ 29,200) due to loss of income from employment. For each additional symptom reported, approximately $ 1,400 cost for the family per annum was added. While there was little direct influence on costs associated with a delay in the diagnosis, the delay was associated with a modest increase in the number of ASD symptoms, indirectly impacting the cost of ASD.
Conclusions: A delay in diagnosis was associated with an indirect increased financial burden to families. Early and appropriate access to early intervention is known to improve a child's long-term outcomes and reduce lifetime costs to the individual, family and society. Consequently, a per symptom dollar value may assist in allocation of individualised funding amounts for interventions rather than a nominal amount allocated to all children below a certain age, regardless of symptom presentation, as is the case in Western Australia.
C1 [Horlin, Chiara; Falkmer, Marita; Parsons, Richard; Falkmer, Torbjorn] Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
[Falkmer, Marita] Jonkoping Univ, Inst Disabil Res, Sch Educ & Commun, CHILD Programme, Jonkoping, Sweden.
[Albrecht, Matthew A.] Curtin Univ, Sch Psychol, CHIRI, Perth, WA 6845, Australia.
[Falkmer, Torbjorn] Linkoping Univ, Fac Hlth Sci, Dept Med & Hlth Sci IMH, Linkoping, Sweden.
[Falkmer, Torbjorn] Pain & Rehabil Ctr, Linkoping, Sweden.
[Falkmer, Torbjorn] La Trobe Univ, Sch Occupat Therapy, Melbourne, Vic, Australia.
RP Falkmer, T (reprint author), Curtin Univ, Sch Occupat Therapy & Social Work, Perth, WA 6845, Australia.
EM T.Falkmer@curtin.edu.au
FU Department of Social Services (DSS); Australian Government's Cooperative
Research Centres Program; DSS [RES-HEA-CRD-TB-50940]
FX This study was funded by the Department of Social Services (DSS),
formerly the Department of Families, Housing, Community Services and
Indigenous Affairs (FaHCSIA), with in-kind support of the Autism CRC,
established and supported under the Australian Government's Cooperative
Research Centres Program. The research was also conducted in
collaboration with Disabilities Services Commission Western Australia
(DSC). DSS had no active role in the design, implementation, data
collection, analysis or interpretation of the study. DSC collaborated
with the authors and assisted in data collection by in-kind contribution
of its employee's time in some aspects of the study. Writing of the
report and the decision to submit this manuscript were solely the role
and responsibility of the authors. However, approval to submit this
study for publication was sought from CRC Living with Autism Spectrum
Disorders, DSS and DSC. All researchers are independent from both DSS
and DSC and take full responsibility for the integrity of the data and
the accuracy of the analyses. (DSS grant number - RES-HEA-CRD-TB-50940
http://www.dss.gov.au/)
CR Australian Government, 2013, HELP CHILDR AUT
Consulting SE, 2007, SYNERGIES EC CONSULT
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NR 24
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 5
PY 2014
VL 9
IS 9
AR e106552
DI 10.1371/journal.pone.0106552
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AZ1IR
UT WOS:000347993600036
PM 25191755
ER
PT J
AU Nevison, CD
AF Nevison, Cynthia D.
TI A comparison of temporal trends in United States autism prevalence to
trends in suspected environmental factors
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Autism; Temporal trends; Air pollution; Mercury; Vaccines;
Organophosphates; PBDEs
ID MERCURY CONCENTRATIONS; OXIDATIVE STRESS; MITOCHONDRIAL DYSFUNCTION;
SPECTRUM DISORDERS; AIR-POLLUTION; AMBIENT AIR; LOS-ANGELES; EXPOSURE;
CHILDREN; ALUMINUM
AB Background: The prevalence of diagnosed autism has increased rapidly over the last several decades among U.S. children. Environmental factors are thought to be driving this increase and a list of the top ten suspected environmental toxins was published recently.
Methods: Temporal trends in autism for birth years 1970-2005 were derived from a combination of data from the California Department of Developmental Services (CDDS) and the United States Individuals with Disabilities Education Act (IDEA). Temporal trends in suspected toxins were derived from data compiled during an extensive literature survey. Toxin and autism trends were compared by visual inspection and computed correlation coefficients. Using IDEA data, autism prevalence vs. birth year trends were calculated independently from snapshots of data from the most recent annual report, and by tracking prevalence at a constant age over many years of reports. The ratio of the snapshot: tracking trend slopes was used to estimate the "real" fraction of the increase in autism.
Results: The CDDS and IDEA data sets are qualitatively consistent in suggesting a strong increase in autism prevalence over recent decades. The quantitative comparison of IDEA snapshot and constant-age tracking trend slopes suggests that similar to 75-80% of the tracked increase in autism since 1988 is due to an actual increase in the disorder rather than to changing diagnostic criteria. Most of the suspected environmental toxins examined have flat or decreasing temporal trends that correlate poorly to the rise in autism. Some, including lead, organochlorine pesticides and vehicular emissions, have strongly decreasing trends. Among the suspected toxins surveyed, polybrominated diphenyl ethers, aluminum adjuvants, and the herbicide glyphosate have increasing trends that correlate positively to the rise in autism.
Conclusions: Diagnosed autism prevalence has risen dramatically in the U.S over the last several decades and continued to trend upward as of birth year 2005. The increase is mainly real and has occurred mostly since the late 1980s. In contrast, children's exposure to most of the top ten toxic compounds has remained flat or decreased over this same time frame. Environmental factors with increasing temporal trends can help suggest hypotheses for drivers of autism that merit further investigation.
C1 Univ Colorado, Inst Arct & Alpine Res, Boulder, CO 80309 USA.
RP Nevison, CD (reprint author), Univ Colorado, Inst Arct & Alpine Res, Boulder, CO 80309 USA.
EM Cynthia.Nevison@colorado.edu
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NR 94
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1476-069X
J9 ENVIRON HEALTH-GLOB
JI Environ. Health
PD SEP 5
PY 2014
VL 13
AR 73
DI 10.1186/1476-069X-13-73
PG 16
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AP4KC
UT WOS:000342044600001
PM 25189402
ER
PT J
AU Camacho, J
Ejaz, E
Ariza, J
Noctor, SC
Martinez-Cerdeno, V
AF Camacho, Jasmin
Ejaz, Ehsan
Ariza, Jeanelle
Noctor, Stephen C.
Martinez-Cerdeno, Veronica
TI RELN-expressing neuron density in layer I of the superior temporal lobe
is similar in human brains with autism and in age-matched controls
SO NEUROSCIENCE LETTERS
LA English
DT Article
DE Autism; Reelin; Superior temporal cortex; Layer I; Cajal-Retzius cells;
Postmortem
ID REELIN-IMMUNOREACTIVE NEURONS; CAJAL-RETZIUS CELL; NEOCORTEX; MOUSE;
SCHIZOPHRENIA; CORTEX; INTERNEURONS; LOCALIZATION; HIPPOCAMPUS;
POPULATION
AB Reelin protein (RELN) level is reduced in the cerebral cortex and cerebellum of subjects with autism. RELN is synthesized and secreted by a subpopulation of neurons in the developing cerebral cortex termed Cajal-Retzius (CR) cells. These cells are abundant in the marginal zone during cortical development, many die after development is complete, but a small population persists into adulthood. In adult brains, RELN is secreted by the surviving CR cells, by a subset of GABAergic interneurons in layer I, and by pyramidal cells and GABAergic interneurons in deeper cortical layers. It is widely believed that decreased RELN in layer I of the cerebral cortex of subjects with autism may result from a decrease in the density of RELN expressing neurons in layer I; however, this hypothesis has not been tested. We examined RELN expression in layer I of the adult human cortex and found that 70% of cells express RELN in both control and autistic subjects. We quantified the density of neurons in layer I of the superior temporal cortex of subjects with autism and age-matched control subjects. Our data show that there is no change in the density of neurons in layer I of the cortex of subjects with autism, and therefore suggest that reduced RELN expression in the cerebral cortex of subjects with autism is not a consequence of decreased numbers of RELN-expressing neurons in layer I. Instead reduced RELN may result from abnormal RELN processing, or a decrease in the number of other RELN-expressing neuronal cell types. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
C1 [Camacho, Jasmin; Ejaz, Ehsan; Ariza, Jeanelle; Martinez-Cerdeno, Veronica] Shriners Hosp Children Northern Calif, Inst Pediat Regenerat Med, Sacramento, CA USA.
[Martinez-Cerdeno, Veronica] Univ Calif Davis, Dept Pathol & Lab Med, Sch Med, Sacramento, CA USA.
[Noctor, Stephen C.] Univ Calif Davis, Dept Psychiat, Sch Med, Sacramento, CA USA.
[Noctor, Stephen C.; Martinez-Cerdeno, Veronica] Univ Calif Davis, MIND Inst, Sacramento, CA USA.
RP Martinez-Cerdeno, V (reprint author), 2425 Stockton BLVD, Sacramento, CA USA.
EM vmartinezcerdeno@ucdavis.edu
FU NIMH [R01-MH094681]; Shriners Hospitals
FX This project was funded by NIMH R01-MH094681 and Shriners Hospitals.
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NR 34
TC 1
Z9 1
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0304-3940
EI 1872-7972
J9 NEUROSCI LETT
JI Neurosci. Lett.
PD SEP 5
PY 2014
VL 579
BP 163
EP 167
DI 10.1016/j.neulet.2014.07.031
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA AO6SP
UT WOS:000341482100031
PM 25067827
ER
PT J
AU Zhang, K
Hill, K
Labak, S
Blatt, GJ
Soghomonian, JJ
AF Zhang, K.
Hill, K.
Labak, S.
Blatt, G. J.
Soghomonian, J. -J.
TI LOSS OF GLUTAMIC ACID DECARBOXYLASE (GAD67) IN GPR88-EXPRESSING NEURONS
INDUCES LEARNING AND SOCIAL BEHAVIOR DEFICITS IN MICE
SO NEUROSCIENCE
LA English
DT Article
DE striatum; GABA; glutamic acid decarboxylase; learning; social behavior;
conditional knockout
ID FRAGILE-X-SYNDROME; GAMMA-AMINOBUTYRIC-ACID; BASAL GANGLIA; GABA
SYNTHESIS; MOUSE MODEL; REPETITIVE BEHAVIOR; WATER MAZE; AUTISM;
INHIBITION; STRIATUM
AB GABA is the neurotransmitter of striatal projection neurons, however the contribution of the striatal GABAergic output to behavior is not well understood. We assessed motor function, spatial learning, social behavior, olfactory and object recognition preferences in mice lacking the GABA-synthesizing enzyme glutamic acid decarboxylase, Gad67, in neurons expressing the protein Gpr88, an orphan G-protein-coupled receptor primarily expressed in the striatum. Gad67-deficient mice show no impairments in motor coordination and balance, but exhibit enhanced locomotor activity and stereotypic grooming behavior. Furthermore, Gad67-deficient mice show impairments in spatial learning, social behavior, olfactory preferences, and they prefer a familiar compared to a novel object in the object recognition test. These findings provide original evidence that striate! Gad67 expression is involved in the modulation of learning and social behavior. Some of the behavioral abnormalities observed in Gad67-deficient mice are reminiscent of Autism-spectrum-disorder (ASD) deficits, suggesting that abnormal striatal GABAergic output may contribute to behavioral deficits in ASD. (C) 2014 IBRO. Published by Elsevier Ltd. All rights reserved.
C1 [Zhang, K.; Hill, K.; Labak, S.; Blatt, G. J.; Soghomonian, J. -J.] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA.
RP Soghomonian, JJ (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, 72 East Concord St, Boston, MA 02118 USA.
EM jjsogho@bu.edu
FU Michael J. Fox Foundation for Parkinson Disease Research; Hussman
Institute for Autism
FX We thank Dr. Richard Palmiter for sharing his genetically modified mice
and Dr. Subimal Data for access to his elevated-plus maze. Supported by
the Michael J. Fox Foundation for Parkinson Disease Research (J.-J.S.)
and the Hussman Institute for Autism.
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NR 54
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4522
EI 1873-7544
J9 NEUROSCIENCE
JI Neuroscience
PD SEP 5
PY 2014
VL 275
BP 238
EP 247
DI 10.1016/j.neuroscience.2014.06.020
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AM7YB
UT WOS:000340083500022
PM 24952328
ER
PT J
AU Pelullo, CP
Marino, S
Abuadili, AJV
Signoriello, G
Attena, F
AF Pelullo, C. P.
Marino, S.
Abuadili, A. J. Valdes
Signoriello, G.
Attena, F.
TI Is it reasonable to abandon obligatory vaccinations in Italy? A 2013
survey
SO EUROSURVEILLANCE
LA English
DT Article
ID MANDATORY VACCINATIONS; CHILDHOOD VACCINATION; IMMUNIZATION STATUS;
PARENTS; VACCINES; CHILDREN; BELIEFS; RISK; ASSOCIATION; THIMEROSAL
AB In Italy, infant vaccinations are mandatory for four infectious diseases: diphtheria, polio, tetanus and hepatitis B. In the past, there was widespread apprehension in Italy that doing away with obligatory vaccinations would reduce the coverage rate, but the possibility of making vaccinations optional has recently become more popular. The objectives of this study were to investigate parental willingness to vaccinate their children if those vaccinations were no longer mandatory and to evaluate the variables influencing this intention. We conducted face-to-face structured interviews with 1,039 parents at public health vaccination centres in four cities of the Campania region of southern Italy. Most respondents (91.9%) said that they would certainly (69.4%) or probably (22.5%) vaccinate their children if vaccinations were not mandatory. The belief that vaccinations are effective and safe was positively associated with willingness to vaccinate their children, whereas having heard that autism is a possible adverse reaction to vaccination was inversely associated with willingness to vaccinate. Nevertheless, in the context of the relatively low 2012* vaccination coverage rates in Campania (under the national standard of 95%), our results suggest that eliminating mandatory vaccinations is likely to lead to current coverage rates decreasing to unacceptably low levels, significantly below 90%.
C1 [Pelullo, C. P.; Marino, S.; Abuadili, A. J. Valdes] Univ Naples 2, Sch Hyg & Prevent Med, Naples, Italy.
[Signoriello, G.] Univ Naples 2, Med Stat Unit, Naples, Italy.
[Attena, F.] Univ Naples 2, Dept Expt Med, Naples, Italy.
RP Pelullo, CP (reprint author), Univ Naples 2, Sch Hyg & Prevent Med, Naples, Italy.
EM francesco.attena@unina2.it
CR [Anonymous], PIAN NAZ PREV VACC 2
[Anonymous], 2014, AD MANT EROG LEA ATT
[Anonymous], 2012, REP SULL VACC ANN 20
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NR 27
TC 0
Z9 0
PU EUR CENTRE DIS PREVENTION & CONTROL
PI STOCKHOLM
PA TOMTEBODAVAGEN 11A, STOCKHOLM, 171 83, SWEDEN
SN 1560-7917
J9 EUROSURVEILLANCE
JI Eurosurveillance
PD SEP 4
PY 2014
VL 19
IS 35
BP 27
EP 33
AR 20889
PG 7
WC Infectious Diseases
SC Infectious Diseases
GA AO8RR
UT WOS:000341622400004
ER
PT J
AU Radeloff, D
Ciaramidaro, A
Siniatchkin, M
Hainz, D
Schlitt, S
Weber, B
Poustka, F
Bolte, S
Walter, H
Freitag, CM
AF Radeloff, Daniel
Ciaramidaro, Angela
Siniatchkin, Michael
Hainz, Daniela
Schlitt, Sabine
Weber, Bernhard
Poustka, Fritz
Boelte, Sven
Walter, Henrik
Freitag, Christine Margarete
TI Structural Alterations of the Social Brain: A Comparison between
Schizophrenia and Autism
SO PLOS ONE
LA English
DT Article
ID MEDIAL PREFRONTAL CORTEX; LIKELIHOOD ESTIMATION METAANALYSIS; FUNCTIONAL
MAGNETIC-RESONANCE; CEREBRAL-BLOOD-FLOW; SPECTRUM DISORDERS; AUDITORY
HALLUCINATIONS; NEURAL SYSTEMS; ASPERGER-SYNDROME; 1ST-EPISODE
SCHIZOPHRENIA; INSULAR DYSFUNCTION
AB Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure. In this voxel based morphometry study, 34 patients with autism spectrum disorder, 21 patients with schizophrenia and 26 typically developed control subjects were included to identify global and regional brain volume alterations. No global gray matter or white matter differences were found between groups. In regional data, patients with autism spectrum disorder compared to typically developed control subjects showed smaller gray matter volume in the amygdala, insula, and anterior medial prefrontal cortex. Compared to patients with schizophrenia, patients with autism spectrum disorder displayed smaller gray matter volume in the left insula. Disorder specific positive correlations were found between mentalizing ability and left amygdala volume in autism spectrum disorder, and hallucinatory behavior and insula volume in schizophrenia. Results suggest the involvement of social brain areas in both disorders. Further studies are needed to replicate these findings and to quantify the amount of distinct and overlapping neural correlates in autism spectrum disorder and schizophrenia.
C1 [Radeloff, Daniel; Ciaramidaro, Angela; Siniatchkin, Michael; Hainz, Daniela; Schlitt, Sabine; Poustka, Fritz; Boelte, Sven; Freitag, Christine Margarete] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
[Weber, Bernhard; Walter, Henrik] Goethe Univ Frankfurt, Dept Psychiat Psychosomat & Psychotherapy, D-60054 Frankfurt, Germany.
[Boelte, Sven] Karolinska Inst KIND, Ctr Neurodev Disorders, Dept Womens & Childrens Hlth, Stockholm, Sweden.
[Walter, Henrik] Charite, Dept Psychiat & Psychotherapy, Div Mind & Brain Res, D-13353 Berlin, Germany.
[Weber, Bernhard] Univ Basel, Psychiat Univ Clin, Basel, Switzerland.
RP Radeloff, D (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
EM daniel.radeloff@kgu.de
RI Walter, Henrik/O-2612-2013
FU Swedish Research Council [523-2009-7054]; LOEWE-Program 'Neuronal
Coordination Research Focus Frankfurt' (NeFF)
FX The study was partly supported by the Swedish Research Council (grant
nr. 523-2009-7054) and by the LOEWE-Program 'Neuronal Coordination
Research Focus Frankfurt' (NeFF). 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 123
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 4
PY 2014
VL 9
IS 9
AR e106539
DI 10.1371/journal.pone.0106539
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3XV
UT WOS:000341271500051
PM 25188200
ER
PT J
AU Spisak, T
Jakab, A
Kis, SA
Opposits, G
Aranyi, C
Berenyi, E
Emri, M
AF Spisak, Tamas
Jakab, Andras
Kis, Sandor A.
Opposits, Gabor
Aranyi, Csaba
Berenyi, Ervin
Emri, Miklos
TI Voxel-Wise Motion Artifacts in Population-Level Whole-Brain Connectivity
Analysis of Resting-State fMRI
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; GLOBAL SIGNAL REGRESSION; FUNCTIONAL
CONNECTIVITY; CEREBRAL-CORTEX; SUBJECT MOTION; HEAD MOTION; MRI;
REGISTRATION; NETWORKS; IMPACT
AB Functional Magnetic Resonance Imaging (fMRI) based brain connectivity analysis maps the functional networks of the brain by estimating the degree of synchronous neuronal activity between brain regions. Recent studies have demonstrated that "resting-state'' fMRI-based brain connectivity conclusions may be erroneous when motion artifacts have a differential effect on fMRI BOLD signals for between group comparisons. A potential explanation could be that in-scanner displacement, due to rotational components, is not spatially constant in the whole brain. However, this localized nature of motion artifacts is poorly understood and is rarely considered in brain connectivity studies. In this study, we initially demonstrate the local correspondence between head displacement and the changes in the resting-state fMRI BOLD signal. Than, we investigate how connectivity strength is affected by the population-level variation in the spatial pattern of regional displacement. We introduce Regional Displacement Interaction (RDI), a new covariate parameter set for second-level connectivity analysis and demonstrate its effectiveness in reducing motion related confounds in comparisons of groups with different voxel-vise displacement pattern and preprocessed using various nuisance regression methods. The effect of using RDI as second-level covariate is than demonstrated in autism-related group comparisons. The relationship between the proposed method and some of the prevailing subject-level nuisance regression techniques is evaluated. Our results show that, depending on experimental design, treating in-scanner head motion as a global confound may not be appropriate. The degree of displacement is highly variable among various brain regions, both within and between subjects. These regional differences bias correlation-based measures of brain connectivity. The inclusion of the proposed second-level covariate into the analysis successfully reduces artifactual motion-related group differences and preserves real neuronal differences, as demonstrated by the autism-related comparisons.
C1 [Spisak, Tamas; Kis, Sandor A.; Opposits, Gabor; Aranyi, Csaba; Emri, Miklos] Univ Debrecen, Med & Hlth Sci Ctr, Dept Nucl Med, Debrecen, Hungary.
[Jakab, Andras] Med Univ Vienna, Dept Radiol, Vienna, Austria.
[Berenyi, Ervin] Univ Debrecen, Med & Hlth Sci Ctr, Dept Biomed Lab & Imaging Sci, Debrecen, Hungary.
RP Spisak, T (reprint author), Univ Debrecen, Med & Hlth Sci Ctr, Dept Nucl Med, Debrecen, Hungary.
EM tspisak@pet.dote.hu
FU European Union; European Social Fund through project "Supercomputer, the
national virtual lab'' [TAMOP-4.2.2.C-11/1/KONV-2012-0010]; State of
Hungary - European Social Fund through project "Basic and applied
research to assist the development of speech for the deaf" [TAMOP
4.2.2.C-11/1/KONV]; State of Hungary through the National Brain Research
Program [KTIA_13_NAP-A-II/3]; European Commission, 7th European
Community Framework Programme, Marie Curie IEF Research grant FABRIC -
"exploring the Formation and Adaptation of the Brain Connectome''
[2012-PIEF-GA-33003]; State of Hungary - European Social Fund 'National
Excellence Program' [TAMOP-4.2.4.A/2-11/1-2012-0001]
FX The study was partially supported by the European Union and the European
Social Fund through project "Supercomputer, the national virtual lab''
(grant. no.: TAMOP-4.2.2.C-11/1/KONV-2012-0010). The work was supported
by the European Union and the State of Hungary, co-financed by the
European Social Fund through project "Basic and applied research to
assist the development of speech for the deaf'' (TAMOP
4.2.2.C-11/1/KONV). The project was supported by the State of Hungary
through the National Brain Research Program ("Charting the normal and
pathological macro-scale brain connectome by in vivo neuroimaging'',
KTIA_13_NAP-A-II/3). T. S. was supported by the European Union and the
State of Hungary, co-financed by the European Social Fund in the
framework of TAMOP-4.2.4.A/2-11/1-2012-0001 'National Excellence
Program'. A.J. was supported by the European Commission, 7th European
Community Framework Programme, Marie Curie IEF Research grant FABRIC -
"exploring the Formation and Adaptation of the Brain Connectome'',
2012-PIEF-GA-33003. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
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NR 49
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 4
PY 2014
VL 9
IS 9
AR e104947
DI 10.1371/journal.pone.0104947
PG 19
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3XV
UT WOS:000341271500003
PM 25188284
ER
PT J
AU Rideau Batista Novais, A
Crouzin, N
Cavalier, M
Boubal, M
Guiramand, J
Cohen-Solal, C
Ferreira, MCD
Cambonie, G
Vignes, M
Barbanel, G
AF Rideau Batista Novais, Aline
Crouzin, Nadine
Cavalier, Melanie
Boubal, Mathilde
Guiramand, Janique
Cohen-Solal, Catherine
Ferreira, Marie-Celeste de Jesus
Cambonie, Gilles
Vignes, Michel
Barbanel, Gerard
TI Tiagabine Improves Hippocampal Long-Term Depression in Rat Pups
Subjected to Prenatal Inflammation
SO PLOS ONE
LA English
DT Article
ID IMMUNE CHALLENGE; ANIMAL-MODELS; NEONATAL LIFE; AREA CA1; INFECTION;
BRAIN; ACTIVATION; MECHANISMS; INDUCTION; EXPOSURE
AB Maternal inflammation during pregnancy is associated with the later development of cognitive and behavioral impairment in the offspring, reminiscent of the traits of schizophrenia or autism spectrum disorders. Hippocampal long-term potentiation and long-term depression of glutamatergic synapses are respectively involved in memory formation and consolidation. In male rats, maternal inflammation with lipopolysaccharide (LPS) led to a premature loss of long-term depression, occurring between 12 and 25 postnatal days instead of after the first postnatal month, and aberrant occurrence of long-term potentiation. We hypothesized this would be related to GABAergic system impairment. Sprague Dawley rats received either LPS or isotonic saline ip on gestational day 19. Male offspring's hippocampus was studied between 12 and 25 postnatal days. Morphological and functional analyses demonstrated that prenatal LPS triggered a deficit of hippocampal GABAergic interneurons, associated with presynaptic GABAergic transmission deficiency in male offspring. Increasing ambient GABA by impairing GABA reuptake with tiagabine did not interact with the low frequency-induced long-term depression in control animals but fully prevented its impairment in male offspring of LPS-challenged dams. Tiagabine furthermore prevented the aberrant occurrence of paired-pulse triggered long-term potentiation in these rats. Deficiency in GABA seems to be central to the dysregulation of synaptic plasticity observed in juvenile in utero LPS-challenged rats. Modulating GABAergic tone may be a possible therapeutic strategy at this developmental stage.
C1 [Rideau Batista Novais, Aline; Cavalier, Melanie; Boubal, Mathilde; Guiramand, Janique; Cohen-Solal, Catherine; Ferreira, Marie-Celeste de Jesus; Cambonie, Gilles; Vignes, Michel; Barbanel, Gerard] Univ Montpellier 2, Univ Montpellier 1, CNRS, Lab IBMM UMR Inst Biomol Max Mousseron 5247, Montpellier, France.
[Rideau Batista Novais, Aline; Boubal, Mathilde; Cambonie, Gilles] Montpellier Univ Hosp, Neonatal Intens Care Unit, Montpellier, France.
[Crouzin, Nadine] Aix Marseille Univ, CNRS, Lab NICN Neurobiol Interact Cellulaires & Neuroph, Marseille, France.
RP Barbanel, G (reprint author), Univ Montpellier 2, Univ Montpellier 1, CNRS, Lab IBMM UMR Inst Biomol Max Mousseron 5247, Montpellier, France.
EM gerard.barbanel@univ-montp2.fr
FU Ministere de l'Enseignement Superieur et de la Recherche; Centre
National de la Recherche Scientifique; University of Montpellier 2;
Groupe d'Etudes de Neonatalogie-Languedoc Roussillon
FX ARBN was the recipient of a fellowship from the "Ministere de
l'Enseignement Superieur et de la Recherche". This work was supported in
part by the Centre National de la Recherche Scientifique and University
of Montpellier 2 and with the financial support of Groupe d'Etudes de
Neonatalogie-Languedoc Roussillon. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 39
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 3
PY 2014
VL 9
IS 9
AR e106302
DI 10.1371/journal.pone.0106302
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3TB
UT WOS:000341257700053
PM 25184226
ER
PT J
AU de Diego-Otero, Y
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Sanchez-Salido, L
Garcia-Guirado, F
del Arco-Herrera, I
Fernandez-Carvajal, I
Ferrando-Lucas, T
Caballero-Andaluz, R
Perez-Costillas, L
AF de Diego-Otero, Yolanda
Calvo-Medina, Rocio
Quintero-Navarro, Carolina
Sanchez-Salido, Lourdes
Garcia-Guirado, Francisco
del Arco-Herrera, Ignacio
Fernandez-Carvajal, Isabel
Ferrando-Lucas, Teresa
Caballero-Andaluz, Rafaela
Perez-Costillas, Lucia
TI A combination of ascorbic acid and alpha-tocopherol to test the
effectiveness and safety in the fragile X syndrome: study protocol for a
phase II, randomized, placebo-controlled trial
SO TRIALS
LA English
DT Article
DE Antioxidants; Experimental treatment; Fragile X syndrome; Oxidative
stress; Trial
ID VITAMIN-E TREATMENT; LINKED MENTAL-RETARDATION; DOUBLE-BLIND;
CYSTIC-FIBROSIS; OXIDATIVE STRESS; OPEN-LABEL; ALZHEIMERS-DISEASE;
INSULIN-RESISTANCE; L-ACETYLCARNITINE; NEWBORN MALES
AB Background: Fragile X syndrome (FXS) is an inherited neurodevelopmental condition characterised by behavioural, learning disabilities, phisical and neurological symptoms. In addition, an important degree of comorbidity with autism is also present. Considered a rare disorder affecting both genders, it first becomes apparent during childhood with displays of language delay and behavioural symptoms.
Main aim: To show whether the combination of 10 mg/kg/day of ascorbic acid (vitamin C) and 10 mg/kg/day of a-tocopherol (vitamin E) reduces FXS symptoms among male patients ages 6 to 18 years compared to placebo treatment, as measured on the standardized rating scales at baseline, and after 12 and 24 weeks of treatment. Secondary aims: To assess the safety of the treatment. To describe behavioural and cognitive changes revealed by the Developmental Behaviour Checklist Short Form (DBC-P24) and the Wechsler Intelligence Scale for Children-Revised. To describe metabolic changes revealed by blood analysis. To measure treatment impact at home and in an academic environment.
Methods/Design: A phase II randomized, double-blind pilot clinical trial. Scope: male children and adolescents diagnosed with FXS, in accordance with a standardized molecular biology test, who met all the inclusion criteria and none of the exclusion criteria. Instrumentation: clinical data, blood analysis, Wechsler Intelligence Scale for Children-Revised, Conners parent and teacher rating scale scores and the DBC-P24 results will be obtained at the baseline (t0). Follow up examinations will take place at 12 weeks (t1) and 24 weeks (t2) of treatment.
Discussion: A limited number of clinical trials have been carried out on children with FXS, but more are necessary as current treatment possibilities are insufficient and often provoke side effects. In the present study, we sought to overcome possible methodological problems by conducting a phase II pilot study in order to calculate the relevant statistical parameters and determine the safety of the proposed treatment. The results will provide evidence to improve hyperactivity control and reduce behavioural and learning problems using ascorbic acid (vitamin C) and a-tocopherol (vitamin E). The study protocol was approved by the Regional Government Committee for Clinical Trials in Andalusia and the Spanish agency for drugs and health products.
C1 [de Diego-Otero, Yolanda; Quintero-Navarro, Carolina; Sanchez-Salido, Lourdes; Garcia-Guirado, Francisco; Perez-Costillas, Lucia] Hosp Reg Univ Malaga, Hosp Civil, Inst Invest Biomed Malaga IBIMA, Unidad Gest Clin Salud Mental, Malaga 29009, Spain.
[Calvo-Medina, Rocio] Hosp Reg Univ Malaga, Unidad Gest Clin Pediat, Malaga 29009, Spain.
[del Arco-Herrera, Ignacio] Infobiotic, Malaga 29018, Spain.
[Fernandez-Carvajal, Isabel] Univ Valladolid, CSIC, IBGM, Unidad Genet Mol Enfermedad, Valladolid 47003, Spain.
[Ferrando-Lucas, Teresa] Hosp Quiron, Serv Neuropediat, Madrid 28223, Spain.
[Caballero-Andaluz, Rafaela] Univ Seville, Fac Med, Dept Psiquiat, E-41009 Seville, Spain.
[Perez-Costillas, Lucia] Univ Malaga, Fac Med, Dept Psiquiat, Malaga 29010, Spain.
[de Diego-Otero, Yolanda] Hosp Reg Univ Malaga, Hosp Civil, Lab Invest, Unidad Gest Clin Salud Mental, Malaga 29009, Spain.
RP de Diego-Otero, Y (reprint author), Hosp Reg Univ Malaga, Hosp Civil, Inst Invest Biomed Malaga IBIMA, Unidad Gest Clin Salud Mental, Pabellon 2 Bajo,Plaza Hosp Civil S-N, Malaga 29009, Spain.
EM yolanda.diego.exts@juntadeandalucia.es
FU Spanish Ministry of Health, Research Funds from FEDER-EU [TRA152,
EC10-191, EC11-434]; Health Department of the Andalusian Regional
Government [PI09-0507]; Economic Innovation and Science Regional
Government [CTS546, P10-CTS-05704]; Jerome Lejeune Foundation (Paris,
France); Servicio Andaluz de Salud. Consejeria de Salud. Junta de
Andalucia; Fragile X Syndrome Association in Andalucia; Fragile X
Syndrome Association in Madrid; Fragile X Syndrome Association in
Extremadura; Spanish Federation of Fragile X Syndrome; Spanish
Federation for Rare Diseases (FEDER); University Regional Hospital in
Malaga
FX The trial protocol is approved and funded by the Spanish Ministry of
Health, Research Funds from FEDER-EU (TRA152, EC10-191 and EC11-434),
the Health Department of the Andalusian Regional Government (PI09-0507),
the Economic Innovation and Science Regional Government (CTS546 and
P10-CTS-05704) and the Jerome Lejeune Foundation (Paris, France). YDDO
is the recipient of a Nicolas Monarde contract from the Servicio Andaluz
de Salud. Consejeria de Salud. Junta de Andalucia. We deeply thank the
all the patients and their families for their participation. The authors
wish to thank the following for their support: the Fragile X Syndrome
Association in Andalucia, the Fragile X Syndrome Association in Madrid,
the Fragile X Syndrome Association in Extremadura, the Spanish
Federation of Fragile X Syndrome, the Spanish Federation for Rare
Diseases (FEDER) and the University Regional Hospital in Malaga for
their support. We thank DWE Ramsden for revising the manuscript.
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NR 91
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1745-6215
J9 TRIALS
JI Trials
PD SEP 3
PY 2014
VL 15
AR 345
DI 10.1186/1745-6215-15-345
PG 15
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AO9EX
UT WOS:000341659800001
PM 25187257
ER
PT J
AU Tang, GM
Gudsnuk, K
Kuo, SH
Cotrina, ML
Rosoklija, G
Sosunov, A
Sonders, MS
Kanter, E
Castagna, C
Yamamoto, A
Yue, ZY
Arancio, O
Peterson, BS
Champagne, F
Dwork, AJ
Goldman, J
Sulzer, D
AF Tang, Guomei
Gudsnuk, Kathryn
Kuo, Sheng-Han
Cotrina, Marisa L.
Rosoklija, Gorazd
Sosunov, Alexander
Sonders, Mark S.
Kanter, Ellen
Castagna, Candace
Yamamoto, Ai
Yue, Zhenyu
Arancio, Ottavio
Peterson, Bradley S.
Champagne, Frances
Dwork, Andrew J.
Goldman, James
Sulzer, David
TI Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic
Pruning Deficits
SO NEURON
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; SUPERIOR TEMPORAL SULCUS; NEUROPSYCHIATRIC
DISORDERS; FUNCTIONAL CONNECTIVITY; HIPPOCAMPAL-NEURONS; DENDRITIC
SPINES; MOUSE MODELS; AUTOPHAGY; BRAIN; MICE
AB Developmental alterations of excitatory synapses are implicated in autism spectrum disorders (ASDs). Here, we report increased dendritic spine density with reduced developmental spine pruning in layer V pyramidal neurons in postmortem ASD temporal lobe. These spine deficits correlate with hyperactivated mTOR and impaired autophagy. In Tsc2+/- ASD mice where mTOR is constitutively overactive, we observed postnatal spine pruning defects, blockade of autophagy, and ASD-like social behaviors. The mTOR inhibitor rapamycin corrected ASDlike behaviors and spine pruning defects in Tsc2+/ mice, but not in Atg7(CKO) neuronal autophagy-deficient mice or Tsc2+/- : Atg7(CKO) double mutants. Neuronal autophagy furthermore enabled spine elimination with no effects on spine formation. Our findings suggest that mTOR-regulated autophagy is required for developmental spine pruning, and activation of neuronal autophagy corrects synaptic pathology and social behavior deficits in ASD models with hyperactivated mTOR.
C1 [Tang, Guomei; Kuo, Sheng-Han; Sonders, Mark S.; Kanter, Ellen; Castagna, Candace; Yamamoto, Ai; Sulzer, David] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
[Gudsnuk, Kathryn; Champagne, Frances] Columbia Univ, Med Ctr, Dept Psychol, New York, NY 10032 USA.
[Cotrina, Marisa L.; Sosunov, Alexander; Arancio, Ottavio; Dwork, Andrew J.; Goldman, James] Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, New York, NY 10032 USA.
[Rosoklija, Gorazd; Peterson, Bradley S.; Dwork, Andrew J.; Sulzer, David] Columbia Univ, Med Ctr, Dept Psychiat, New York, NY 10032 USA.
[Sulzer, David] Columbia Univ, Med Ctr, Dept Pharmacol, New York, NY 10032 USA.
[Yue, Zhenyu] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurol, New York, NY 10029 USA.
[Yue, Zhenyu] Icahn Sch Med Mt Sinai, Friedman Brain Inst, Dept Neurosci, New York, NY 10029 USA.
[Cotrina, Marisa L.] Univ Rochester, Ctr Translat Neuromed, Rochester, NY 14642 USA.
[Rosoklija, Gorazd; Peterson, Bradley S.; Dwork, Andrew J.; Sulzer, David] New York State Psychiat Inst & Hosp, New York, NY 10032 USA.
RP Sulzer, D (reprint author), Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA.
EM ds43@columbia.edu
FU Simons Foundation; DOD TSCRP [TS110056]; Parkinson's Disease Foundation
from NIMH [K01MH096956]; JPB Foundation from NIMH [K01MH096956]; AHA;
NIMH [MH64168]; NIH [DP2OD001674-01, NS049442]
FX This study was supported by the Simons Foundation. Additional support
for D.S. is from DOD TSCRP (TS110056) and the Parkinson's Disease and
JPB Foundations, for G.T. from NIMH (K01MH096956), for M.L.C. from AHA,
for A.J.D. from NIMH (MH64168), for F.C. from NIH (DP2OD001674-01), for
O.A. from NIH (NS049442). We thank the Autism Tissue Portal, Harvard
Brain Bank, and Maryland NICHD Brain & Tissue Bank for kindly providing
us brain tissues for the present study. We thank Ana Maria Cuervo for
reagents and valuable advice.
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TC 9
Z9 12
PU CELL PRESS
PI CAMBRIDGE
PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA
SN 0896-6273
EI 1097-4199
J9 NEURON
JI Neuron
PD SEP 3
PY 2014
VL 83
IS 5
BP 1131
EP 1143
DI 10.1016/j.neuron.2014.07.040
PG 13
WC Neurosciences
SC Neurosciences & Neurology
GA AO5XB
UT WOS:000341419000015
PM 25155956
ER
PT J
AU Stavropoulos, KKM
Carver, LJ
AF Stavropoulos, Katherine K. M.
Carver, Leslie J.
TI Effect of Familiarity on Reward Anticipation in Children with and
without Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; STIMULUS-PRECEDING NEGATIVITY; FUSIFORM FACE
AREA; TYPICAL DEVELOPMENT; FACIAL EXPRESSIONS; YOUNG-CHILDREN;
RECOGNITION; PERCEPTION; ATTACHMENT; PUNISHMENT
AB Background: Previous research on the reward system in autism spectrum disorders (ASD) suggests that children with ASD anticipate and process social rewards differently than typically developing (TD) children-but has focused on the reward value of unfamiliar face stimuli. Children with ASD process faces differently than their TD peers. Previous research has focused on face processing of unfamiliar faces, but less is known about how children with ASD process familiar faces. The current study investigated how children with ASD anticipate rewards accompanied by familiar versus unfamiliar faces.
Methods: The stimulus preceding negativity (SPN) of the event-related potential (ERP) was utilized to measure reward anticipation. Participants were 6- to 10-year-olds with (N = 14) and without (N = 14) ASD. Children were presented with rewards accompanied by incidental face or non-face stimuli that were either familiar (caregivers) or unfamiliar. All non-face stimuli were composed of scrambled face elements in the shape of arrows, controlling for visual properties.
Results: No significant differences between familiar versus unfamiliar faces were found for either group. When collapsing across familiarity, TD children showed larger reward anticipation to face versus non-face stimuli, whereas children with ASD did not show differential responses to these stimulus types. Magnitude of reward anticipation to faces was significantly correlated with behavioral measures of social impairment in the ASD group.
Conclusions: The findings do not provide evidence for differential reward anticipation for familiar versus unfamiliar face stimuli in children with or without ASD. These findings replicate previous work suggesting that TD children anticipate rewards accompanied by social stimuli more than rewards accompanied by non-social stimuli. The results do not support the idea that familiarity normalizes reward anticipation in children with ASD. Our findings also suggest that magnitude of reward anticipation to faces is correlated with levels of social impairment for children with ASD.
C1 [Stavropoulos, Katherine K. M.; Carver, Leslie J.] Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
RP Stavropoulos, KKM (reprint author), Univ Calif San Diego, Dept Psychol, La Jolla, CA 92093 USA.
EM kmeltzoff@gmail.com
FU Autism Speaks Dennis Weatherstone Predoctoral Fellowship [7844]
FX This work was supported by an Autism Speaks Dennis Weatherstone
Predoctoral Fellowship awarded to KKMS (grant 7844). The funders had no
rule in study design, data collection and analysis, decision to publish,
or preparation of the manuscript.
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NR 46
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD SEP 3
PY 2014
VL 9
IS 9
AR e106667
DI 10.1371/journal.pone.0106667
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AO3TB
UT WOS:000341257700099
PM 25184524
ER
PT J
AU Margari, L
Colonna, A
Craig, F
Gentile, M
Giannella, G
Lamanna, AL
Legrottaglie, AR
AF Margari, Lucia
Colonna, Annalisa
Craig, Francesco
Gentile, Mattia
Giannella, Giustina
Lamanna, Anna Linda
Legrottaglie, Anna Rosi
TI Microphthalmia with Linear Skin Defects (MLS) associated with Autism
Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp
deletion
SO BMC PEDIATRICS
LA English
DT Article
DE MLS syndrome; Autism spectrum disorder; Xp deletion; X-inactivation;
Phenotypic variability
ID DISTAL SHORT ARM; CHROMOSOME; GENE; INACTIVATION; PHENOTYPE;
SCLEROCORNEA; VARIABILITY; FEMALE; GIRL
AB Background: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra-and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.
Case presentation: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.
Conclusion: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
C1 [Margari, Lucia; Colonna, Annalisa; Craig, Francesco; Giannella, Giustina; Lamanna, Anna Linda; Legrottaglie, Anna Rosi] Neurosci & Sensory Organs Aldo Moro Univ Bari, Dept Gen Med, Child Neuropsychiat Unit, Bari, Italy.
[Gentile, Mattia] ASL BARI, Hosp Di Venere, Dept Med Genet, Bari, Italy.
RP Margari, L (reprint author), Neurosci & Sensory Organs Aldo Moro Univ Bari, Dept Gen Med, Child Neuropsychiat Unit, Bari, Italy.
EM lucia.margari@uniba.it
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NR 21
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2431
J9 BMC PEDIATR
JI BMC Pediatr.
PD SEP 2
PY 2014
VL 14
AR 220
DI 10.1186/1471-2431-14-220
PG 5
WC Pediatrics
SC Pediatrics
GA AP2IB
UT WOS:000341894800001
PM 25182979
ER
PT J
AU Fan, J
AF Fan, Jin
TI An information theory account of cognitive control
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE cognitive control; information theory; uncertainty; entropy;
frontoparietal network
ID ANTERIOR CINGULATE CORTEX; EVENT-RELATED FMRI; MEDIAL FRONTAL-CORTEX;
DEFICIT HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE DISORDER;
POSITRON-EMISSION-TOMOGRAPHY; HUMAN ATTENTIONAL NETWORKS; AUTISM
SPECTRUM DISORDERS; HUMAN PREFRONTAL CORTEX; HIGH-FUNCTIONING AUTISM
AB Our ability to efficiently process information and generate appropriate responses depends on the processes collectively called cognitive control. Despite a considerable focus in the literature on the cognitive control of information processing, neural mechanisms underlying control are still unclear, and have not been characterized by considering the quantity of information to be processed. A novel and comprehensive account of cognitive control is proposed using concepts from information theory, which is concerned with communication system analysis and the quantification of information. This account treats the brain as an information-processing entity where cognitive control and its underlying brain networks play a pivotal role in dealing with conditions of uncertainty. This hypothesis and theory article justifies the validity and properties of such an account and relates experimental findings to the frontoparietal network under the framework of information theory.
C1 [Fan, Jin] CUNY Queens Coll, Dept Psychol, Flushing, NY 11367 USA.
[Fan, Jin] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA.
[Fan, Jin] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY USA.
RP Fan, J (reprint author), CUNY Queens Coll, Dept Psychol, 65-30 Kissena Blvd, Flushing, NY 11367 USA.
EM jin.fan@qc.cuny.edu
FU National Institute of Mental Health of the National Institutes of Health
[R01 MH094305]
FX Research reported in this publication was supported by the National
Institute of Mental Health of the National Institutes of Health under
Award Number R01 MH094305 to Jin Fan. The content is solely the
responsibility of the author and does not necessarily represent the
official views of the National Institutes of Health. I would like to
thank Drs. Michael I. Posner, Raja Parasuraman, Robert Knight, Patrick
Hof, Hongbin Wang, Xun Liu, Nicholas Van Dam, Tingting Wu, Thomas Y.
Lee, Melissa-Ann Mackie, M.S., and especially the reviewers for making
insightful comments and corrections.
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NR 199
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD SEP 2
PY 2014
VL 8
AR 680
DI 10.3389/fnhum.2014.00680
PG 16
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AO4FL
UT WOS:000341291500003
PM 25228875
ER
PT J
AU Mulder, AM
Cashin, A
AF Mulder, Ann M.
Cashin, Andrew
TI The Need to Support Students with Autism at University
SO Issues in Mental Health Nursing
LA English
DT Article
ID SPECTRUM DISORDERS; POSTSECONDARY EDUCATION; ASPERGER-SYNDROME;
HIGH-SCHOOL; POPULATION; PREVALENCE; DISABILITIES; TRANSITION
AB Publicity surrounds the increased prevalence of autism. However, in contrast to support in primary and secondary schools, there exists little focus on supporting students with autism at university. Mental health nurses are well placed to facilitate support programmes for students with autism who have the capacity for higher education. This article examines the international literature around the support needs for these students and discusses opportunities that exist to support these students, their families, and higher education staff. Research is urgently needed to evaluate the success of such interventions, particularly in light of the low participation rates in study and work for people with autism.
C1 [Mulder, Ann M.; Cashin, Andrew] So Cross Univ, Sch Hlth & Human Sci, Lismore, NSW 2480, Australia.
RP Mulder, AM (reprint author), So Cross Univ, Sch Hlth & Human Sci, Lismore, NSW 2480, Australia.
EM ann.mulder@scu.edu.au
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NR 50
TC 0
Z9 0
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 0161-2840
EI 1096-4673
J9 ISSUES MENT HEALTH N
JI Issues Ment. Health Nurs.
PD SEP
PY 2014
VL 35
IS 9
BP 664
EP 671
DI 10.3109/01612840.2014.894158
PG 8
WC Nursing; Psychiatry
SC Nursing; Psychiatry
GA CG4HJ
UT WOS:000353245900004
PM 25162188
ER
PT J
AU Singer, GHS
Horner, RH
Dunlap, G
Wang, MA
AF Singer, George H. S.
Horner, Robert H.
Dunlap, Glen
Wang, Mian
TI Standards of Proof: TASH, Facilitated Communication, and the
Science-Based Practices Movement
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE science based practices; research methods; values; facilitated
communication
ID SPECIAL-EDUCATION; SUPPORT; AUTISM; PERSPECTIVES; PARENTS; COMPETENCE;
AUTHORSHIP; CHILDREN; IMPACT
AB TASH's historic commitment to advocacy and science has enabled it to be a trusted voice for people with severe disabilities and their families. We review recent developments in the controversy over facilitated communication (FC) in light of major contextual continuities and changes in the past two decades. A series of scholarly reviews of the literature on controlled experiments have established a preponderance of evidence that FC is not reliably an expression from the individual who receives facilitation. Evidence indicates that the facilitator is the usual source of the text. We discuss the standards of proof of efficacy that must apply before an intervention should be endorsed by a national organization that aims to have a major impact on policy and practices. The need for controlled experiments in evaluation interventions is discussed. The central concern in establishing efficacy of a practice is to rule out other plausible explanations for an outcome. The main concern in establishing effectiveness is replication under real-world conditions. The science-based practices movement has been taken up by most of the helping professions contributing to the education and support of people with severe disabilities. The movement aims to identify practices and catalog them in terms of the trustworthiness of the evidence supporting them. The movement has led to establishing standards for determining when an intervention can be said to be efficacious. We urge TASH to join this movement and, in light of a commitment to science-based practices, argue that it should withdraw its stated endorsement of FC, which is not supported by science-based research.
C1 [Singer, George H. S.; Wang, Mian] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
[Horner, Robert H.] Univ Oregon, Eugene, OR 97403 USA.
[Dunlap, Glen] Univ Nevada, Reno, NV 89557 USA.
[Dunlap, Glen] Univ S Florida, Tampa Bay, FL USA.
RP Singer, GHS (reprint author), Univ Calif Santa Barbara, Gevertz Grad Sch Educ, Santa Barbara, CA 93106 USA.
EM singer@education.ucsb.edu
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What Works Clearinghouse, 2014, WWC PROC STAND HDB
NR 51
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 178
EP 188
DI 10.1177/1540796914558831
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300002
ER
PT J
AU Cardinal, DN
Falvey, MA
AF Cardinal, Donald N.
Falvey, Mary A.
TI The Maturing of Facilitated Communication: A Means Toward Independent
Communication
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE facilitated communication; multivariate analysis; severe disabilities;
facilitated communication
ID AUTHORSHIP; AUTISM; INDIVIDUALS; PERSPECTIVE; GRAMMAR; LEXICON
AB Facilitated communication (FC) can be a successful means for people to learn to communicate effectively and independently. The preponderance of peer-reviewed articles supports FC as a useful tool for developing communication skills. While there has been a chasm of difference in qualitative versus quantitative studies on FC, researchers have produced a body of current literature confirming the method. Many people with significant intellectual disabilities, through the use of FC, have been able to demonstrate their ability to successfully communicate. We, as a profession, now need to respond with collaborative scholarship. In addition, revised position statements must be developed reflecting the past research findings and encouraging future research.
C1 [Cardinal, Donald N.] Chapman Univ, Coll Educ Studies, Orange, CA 92866 USA.
[Falvey, Mary A.] Calif State Univ Los Angeles, Los Angeles, CA 90032 USA.
RP Cardinal, DN (reprint author), Chapman Univ, Coll Educ Studies, One Univ Dr, Orange, CA 92866 USA.
EM cardinal@chapman.edu
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NR 27
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 189
EP 194
DI 10.1177/1540796914555581
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300003
ER
PT J
AU Travers, JC
Tincani, MJ
Lang, R
AF Travers, Jason C.
Tincani, Matt J.
Lang, Russell
TI Facilitated Communication Denies People With Disabilities Their Voice
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE Facilitated Communication; pseudoscience; autism; developmental
disabilities; augmentative and alternative communication
ID AUTISM; SYSTEM; SAY
AB Facilitated Communication (FC) has been rebranded as "supported typing" and repackaged as rapid prompting method, but remains a disproven intervention for people with disabilities. Despite the absence of supportive evidence and abundant evidence that facilitators always author the messages, FC has experienced resurgence in popularity among families, professionals, and advocacy groups. Strategic marketing, confirmation bias, pseudoscience, anti-science, and fallacy explain this troubling renewal. We briefly discuss each of these and contrast the method with authentic augmentative and alternative communication to illustrate differences in values and practices. Our intention is to persuade readers to resist or abandon FC in favor of validated methods and to encourage advocacy organizations to advance agendas that emphasize genuine self-expression by people with disabilities.
C1 [Travers, Jason C.] Univ Kansas, Lawrence, KS 66045 USA.
[Tincani, Matt J.] Temple Univ, Philadelphia, PA 19122 USA.
[Lang, Russell] Texas State Univ, San Marcos, TX USA.
RP Travers, JC (reprint author), Univ Kansas, Joseph R Pearson Hall,Rm 521,1122 West Campus Rd, Lawrence, KS 66045 USA.
EM jasontravers@me.com
CR Bellati C., 2012, TABOO
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TASH, 2014, FAC COMM
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University of Northern Iowa College of Education, 2014 MIDW SUMM I COM
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Wurzburg G., 2004, AUTISM IS A WORLD
Wurzburg G., 2011, WRETCHES JABBERERS S
Yabroff J., 2011, NEWSWEEK
NR 62
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 195
EP 202
DI 10.1177/1540796914556778
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300004
ER
PT J
AU Mostert, MP
AF Mostert, Mark P.
TI An Activist Approach to Debunking FC
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE facilitated communication; autism; special education
ID FACILITATED COMMUNICATION; META-ANALYSIS; AUTISM; CHILDREN; SCIENCE
AB Facilitated Communication (FC), a controversial educational intervention touted for persons with autism and other non-communicative conditions, has reemerged as a viable educational option despite a number of earlier empirical studies that unequivocally identified the facilitator as the author of any communication and not the client. Several intersecting vectors including a current dearth of new empirical studies debunking the practice, the proliferation of questionable research favorable to FC, and the increased acceptance by academic journals of the legitimacy of FC have fueled this resurgence. I suggest a series of activist approaches to counter the acceptance of FC as legitimate educational practice.
C1 [Mostert, Mark P.] Regent Univ, Virginia Beach, VA 23454 USA.
RP Mostert, MP (reprint author), Regent Univ, Sch Educ, 1000 Univ Dr, Virginia Beach, VA 23454 USA.
EM markmos@regent.edu
CR [Anonymous], 2014, SKEPTIC REPORT
[Anonymous], 2014, SKEPTICS DICT
Associated Press, 2014, MEASLES OUTBREAK WOR
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NR 48
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 203
EP 210
DI 10.1177/1540796914556779
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300005
ER
PT J
AU Kurth, JA
Morningstar, ME
Kozleski, EB
AF Kurth, Jennifer A.
Morningstar, Mary E.
Kozleski, Elizabeth B.
TI The Persistence of Highly Restrictive Special Education Placements for
Students With Low-Incidence Disabilities
SO RESEARCH AND PRACTICE FOR PERSONS WITH SEVERE DISABILITIES
LA English
DT Article
DE inclusive education; low-incidence disabilities; severe disabilities;
instruction
ID SIGNIFICANT COGNITIVE DISABILITIES; INTELLECTUAL DISABILITIES;
LEARNING-DISABILITIES; INCLUSION; ADOLESCENTS; AUTISM; IMPACT;
INSTRUCTION; SETTINGS; CHILDREN
AB The purpose of this study is to analyze the Least Restrictive Environment (LRE) data that states and U. S. territories report from the Office of Special Education Programs (OSEP) and discuss the status of the most restrictive special education placement settings for students with disabilities. In this analysis, we found that (a) states do not set rigorous improvement goals to reduce restrictive placements, (b) the percentage of students with disabilities placed in restrictive placements have remained essentially unchanged over the past decade, and (c) students with low-incidence (severe) disabilities are disproportionally placed in restrictive placements. These results suggest that segregated educational experiences continue for thousands of students with disabilities in spite of evidence that shows that opportunities to learn and develop are enhanced in more inclusive educational settings.
C1 [Kurth, Jennifer A.] Univ Kansas, Lawrence, KS 66045 USA.
[Morningstar, Mary E.] Univ Kansas, Dept Special Educ, Lawrence, KS 66045 USA.
[Kozleski, Elizabeth B.] Univ Kansas, Special Educ Program, Lawrence, KS 66045 USA.
RP Kurth, JA (reprint author), Univ Kansas, 1122 West Campus Rd, Lawrence, KS 66045 USA.
EM jkurth@ku.edu
CR Artiles AJ, 2010, EXCEPT CHILDREN, V76, P279
Benz MR, 2000, EXCEPT CHILDREN, V66, P509
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Kurth J, 2012, J SPEC EDUC, V46, P36, DOI 10.1177/0022466910366480
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Office of Special Education Programs, 2009, SPP APR REL REQ B
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NR 37
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1540-7969
EI 2169-2408
J9 RES PRACT PERS SEV D
JI Res. Pract. Pers. Sev. Disabil.
PD SEP
PY 2014
VL 39
IS 3
SI SI
BP 227
EP 239
DI 10.1177/1540796914555580
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA CB7HK
UT WOS:000349797300007
ER
PT J
AU Ahmed, SS
Unland, T
Slaven, JE
Nitu, ME
Rigby, MR
AF Ahmed, Sheikh Sohail
Unland, Tamara
Slaven, James E.
Nitu, Mara E.
Rigby, Mark R.
TI Successful Use of Intravenous Dexmedetomidine for Magnetic Resonance
Imaging Sedation in Autistic Children
SO SOUTHERN MEDICAL JOURNAL
LA English
DT Article
DE autistic spectrum disorders; conscious sedation; dexmedetomidine;
magnetic resonance imaging; pediatrics
ID PEDIATRIC-PATIENTS; CHLORAL HYDRATE; DEVELOPMENTAL DISORDERS; DOSE
DEXMEDETOMIDINE; SPECTRUM DISORDERS; SAFE SEDATION; DOUBLE-BLIND;
MANAGEMENT; MRI; PROPOFOL
AB Objectives Autism and autism spectrum disorders (A/ASD) represent a family of neurodevelopmental conditions that are associated with overactive, difficult-to-control behaviors. Sedating these patients for magnetic resonance imaging (MRI) poses challenges. Children with A/ASD were examined against clinical controls to determine the effectiveness and safety of intravenous (IV) dexmedetomidine for deep sedation.
Methods The quality assurance data on all of the children who received IV dexmedetomidine sedation for MRI between July 2007 and December 2012 were reviewed. Patients in both groups were sedated by an intensivist-based team with a standard plan of 2 g/kg IV dexmedetomidine administered for 10 minutes followed by an infusion of 1 gkg(-1)hour(-1). The amount of IV dexmedetomidine was titrated to the deep level of sedation. A total of 56 patients in the A/ASD group and 107 in the control group were sedated with no reported sedation failures. Sedation parameters were compared between the A/ASD and control groups using analysis of covariance models, controlling for age, sex, and weight.
Results Children in the A/ASD group were predominantly male (73%) and older (6.1 0.3 years) than children in the control group (56%; 5.0 +/- 0.2 years; P < 0.05 for both). Procedure time was significantly shorter for patients in the A/ASD group than in control patients (34.6 +/- 2.4 vs 44.3 +/- 1.6 minutes; P < 0.05). The A/ASD and control groups required a similar IV bolus of dexmedetomidine (2.6 g/kg +/- 0.1 vs 2.4 g/kg +/- 0.10; P = 0.29), with a significantly lower infusion dose in the A/ASD group (0.74 g/kg +/- 0.05 vs 0.89 g/kg +/- 0.03; P < 0.05). Heart rates were similar in the A/ASD group and the control group (67.0 beats per minute +/- 1.6 vs 69.3 +/- 1.1 beats per minute; P = 0.250). There were no complications. Recovery time was approximately 7 minutes longer in the A/ASD group than in the control group, but this was nonsignificant (101.2 +/- 3.5 minutes vs 94.2 +/- 2.4 minutes; P = 0.12). Analyses were performed using analysis of covariance methods and generalized linear models to control for age, sex, and weight.
Conclusions Children with A/ASD can be successfully sedated for MRIs with IV dexmedetomidine without complications.
C1 [Ahmed, Sheikh Sohail] Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Indiana Univ Hlth, Indianapolis, IN 46202 USA.
Indiana Univ Sch Med, Dept Biostat, Indianapolis, IN 46202 USA.
RP Ahmed, SS (reprint author), Indiana Univ Sch Med, Riley Hosp Children, Dept Pediat, Indiana Univ Hlth, 705 Riley Hosp Dr,RI 2117, Indianapolis, IN 46202 USA.
EM ssahmed@iupui.edu
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NR 43
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0038-4348
EI 1541-8243
J9 SOUTH MED J
JI South.Med.J.
PD SEP
PY 2014
VL 107
IS 9
BP 559
EP 564
PG 6
WC Medicine, General & Internal
SC General & Internal Medicine
GA CA6VK
UT WOS:000349053700005
PM 25188619
ER
PT J
AU Johnson, C
AF Johnson, Chwen
TI Development and Pilot Testing of a Healthy Eating Video-Supported
Program for Adults with Developmental Disabilities
SO CANADIAN JOURNAL OF DIETETIC PRACTICE AND RESEARCH
LA English
DT Article
ID INTELLECTUAL DISABILITIES; INSTRUCTION; NUTRITION; STUDENTS; MODERATE;
AUTISM
AB Video technology is a potentially effective means to teach individuals with developmental disabilities (DD) about healthy eating. Research in this area, however, is relatively unexplored. This study developed and tested a video intervention to teach healthy eating to adults with DD. A 5-segment educational video, an accompanying workbook, and a facilitator guide were developed to teach basic healthy eating concepts to adults with DD. Twelve adults with DD took part in a 5-week educational program led by trained facilitators using the materials created. Pre- and posttests were used to measure knowledge gained from participating in the intervention. Seventy-five percent (n = 9) of participants improved their knowledge scores, 8% (n = 1) maintained residue knowledge, and 17% (n = 2) had a decrease in their score. Video instructions can be an effective intervention modality to increase knowledge in adults with DD about healthy eating. Key enablers identified for participants' knowledge gain included video content developed based on the learning need and cognitive level of intended users; program delivered by facilitators trained in effective teaching strategies; and engaging the participants' staff, family, and caregivers to provide ongoing reinforcement about healthy eating.
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NR 16
TC 0
Z9 0
PU DIETITIANS CANADA
PI TORONTO
PA 480 UNIV AVE, SUITE 604, TORONTO, ONTARIO M5G 1V2, CANADA
SN 1486-3847
EI 2292-9592
J9 CAN J DIET PRACT RES
JI Can. J. Diet. Pract. Res.
PD SEP
PY 2014
VL 75
IS 3
BP 140
EP 144
DI 10.3148/cjdpr-2014-002
PG 5
WC Nutrition & Dietetics
SC Nutrition & Dietetics
GA AZ9DW
UT WOS:000348513100009
ER
PT J
AU Schumann, K
Zaki, J
Dweck, CS
AF Schumann, Karina
Zaki, Jamil
Dweck, Carol S.
TI Addressing the Empathy Deficit: Beliefs About the Malleability of
Empathy Predict Effortful Responses When Empathy Is Challenging
SO JOURNAL OF PERSONALITY AND SOCIAL PSYCHOLOGY
LA English
DT Article
DE empathy; lay theories; conflict resolution; intergroup relations;
altruism
ID AMERICAN-COLLEGE-STUDENTS; HIGH-FUNCTIONING AUTISM; IMPLICIT THEORIES;
INDIVIDUAL-DIFFERENCES; CONFLICT-RESOLUTION; ASPERGER-SYNDROME; NEURAL
RESPONSES; MECHANICAL TURK; MIRROR NEURONS; SELF-THEORIES
AB Empathy is often thought to occur automatically. Yet, empathy frequently breaks down when it is difficult or distressing to relate to people in need, suggesting that empathy is often not felt reflexively. Indeed, the United States as a whole is said to be displaying an empathy deficit. When and why does empathy break down, and what predicts whether people will exert effort to experience empathy in challenging contexts? Across 7 studies, we found that people who held a malleable mindset about empathy (believing empathy can be developed) expended greater empathic effort in challenging contexts than did people who held a fixed theory (believing empathy cannot be developed). Specifically, a malleable theory of empathy whether measured or experimentally induced promoted (a) more self-reported effort to feel empathy when it is challenging (Study 1); (b) more empathically effortful responses to a person with conflicting views on personally important sociopolitical issues (Studies 2-4); (c) more time spent listening to the emotional personal story of a racial outgroup member (Study 5); and (d) greater willingness to help cancer patients in effortful, face-to-face ways (Study 6). Study 7 revealed a possible reason for this greater empathic effort in challenging contexts: a stronger interest in improving one's empathy. Together, these data suggest that people's mindsets powerfully affect whether they exert effort to empathize when it is needed most, and these data may represent a point of leverage in increasing empathic behaviors on a broad scale.
C1 [Schumann, Karina; Zaki, Jamil; Dweck, Carol S.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
RP Schumann, K (reprint author), Stanford Univ, Dept Psychol, Jordan Hall,Bldg 01-420,450 Serra Mall, Stanford, CA 94305 USA.
EM karinas@stanford.edu
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NR 84
TC 3
Z9 3
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 SEP
PY 2014
VL 107
IS 3
BP 475
EP 493
DI 10.1037/a0036738
PG 19
WC Psychology, Social
SC Psychology
GA AZ6MU
UT WOS:000348334600006
PM 25133727
ER
PT J
AU Bosse, KR
Shukla, AR
Pawel, B
Chikwava, KR
Santi, M
Tooke, L
Castagna, K
Biegel, JA
Bagatell, R
AF Bosse, Kristopher R.
Shukla, Aseem R.
Pawel, Bruce
Chikwava, Kudakwashe R.
Santi, Mariarita
Tooke, Laura
Castagna, Katherine
Biegel, Jaclyn A.
Bagatell, Rochelle
TI Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14
year-old male with a germline 22q11.2 deletion
SO CANCER GENETICS
LA English
DT Article
DE Rhabdoid; SMARCB1; distal 22q11.2 syndrome
ID ATYPICAL TERATOID/RHABDOID TUMOR; OF-THE-LITERATURE; SWI/SNF COMPLEX;
MUTATIONS; DISORDER; CANCER; SMARCB1/INI1; GENE; INI1
AB Malignant rhabdoid tumors (MRTs) are rare pediatric malignancies characterized by clinically aggressive lesions that typically show loss of SMARCB1 expression. We herein describe a case of a malignant rhabdoid tumor of the bladder in a 14-year-old male with an autism spectrum disorder and a de novo 3 Mb germline deletion in chromosome band 22q11.2 that included the SMARCB1 gene. The malignancy developed in the setting of chronic hematuria (>2 years) following the occurrence of two other lesions: a central nervous system ganglioglioma and an intraoral dermoid cyst. MRTs of the bladder are exceedingly rare, and this patient is the oldest child reported with this tumor to date. This case adds to the growing body of literature regarding the recently described, phenotypically diverse, distal 22q11.2 syndrome. Furthermore, this is the first reported case in which an MRT of the bladder appears to have developed from a pre-existing bladder lesion. Finally, this case further supports a rhabdoid tumorigenesis model in which heterozygous loss of SMARCB1 predisposes to initial tumor formation with intact SMARCB1 expression, with subsequent inactivation of the other SMARCB1 allele, which results in transformation into more malignant lesions.
C1 [Bosse, Kristopher R.; Bagatell, Rochelle] Univ Penn, Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA.
[Bosse, Kristopher R.; Shukla, Aseem R.; Pawel, Bruce; Chikwava, Kudakwashe R.; Santi, Mariarita; Tooke, Laura; Castagna, Katherine; Biegel, Jaclyn A.; Bagatell, Rochelle] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA.
[Shukla, Aseem R.] Univ Penn, Childrens Hosp Philadelphia, Div Urol, Philadelphia, PA 19104 USA.
[Pawel, Bruce; Chikwava, Kudakwashe R.; Santi, Mariarita; Tooke, Laura; Castagna, Katherine; Biegel, Jaclyn A.] Univ Penn, Childrens Hosp Philadelphia, Dept Pathol, Philadelphia, PA 19104 USA.
[Bosse, Kristopher R.; Biegel, Jaclyn A.] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA.
RP Bagatell, R (reprint author), Univ Penn, Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA.
EM bagatellr@email.chop.edu
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NR 29
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 2210-7762
EI 2210-7770
J9 CANCER GENET-NY
JI Cancer Genet.
PD SEP
PY 2014
VL 207
IS 9
SI SI
BP 415
EP 419
DI 10.1016/j.cancergen.2014.05.007
PG 5
WC Oncology; Genetics & Heredity
SC Oncology; Genetics & Heredity
GA AX3DB
UT WOS:000346819600013
PM 25018128
ER
PT J
AU Martin, L
Sample, H
Gregg, M
Wood, C
AF Martin, Loren
Sample, Hannah
Gregg, Michael
Wood, Caleb
TI Validation of operant social motivation paradigms using BTBR T+tf/J and
C57BL/6J inbred mouse strains
SO BRAIN AND BEHAVIOR
LA English
DT Article
DE Autism; behavior; mouse; open field; progressive ratio; three-chamber
task; valence
ID T PLUS TF/J; REPETITIVE BEHAVIOR; UNUSUAL REPERTOIRE; AUTISM; MICE;
MODEL; VOCALIZATIONS; PHENOTYPES; RELEVANT
AB Background: As purported causal factors are identified for autism spectrum disorder (ASD), new assays are needed to better phenotype animal models designed to explore these factors. With recent evidence suggesting that deficits in social motivation are at the core of ASD behavior, the development of quantitative measures of social motivation is particularly important. The goal of our study was to develop and validate novel assays to quantitatively measure social motivation in mice. Methods: In order to test the validity of our paradigms, we compared the BTBR strain, with documented social deficits, to the prosocial C57BL/6J strain. Two novel conditioning paradigms were developed that allowed the test mouse to control access to a social partner. In the social motivation task, the test mice lever pressed for a social reward. The reward contingency was set on a progressive ratio of reinforcement and the number of lever presses achieved in the final trial of a testing session (breakpoint) was used as an index of social motivation. In the valence comparison task, motivation for a food reward was compared to a social reward. We also explored activity, social affiliation, and preference for social novelty through a series of tasks using an ANY-Maze video-tracking system in an open-field arena. Results: BTBR mice had significantly lower breakpoints in the social motivation paradigm than C57BL/6J mice. However, the valence comparison task revealed that BTBR mice also made significantly fewer lever presses for a food reward. Conclusions: The results of the conditioning paradigms suggest that the BTBR strain has an overall deficit in motivated behavior. Furthermore, the results of the open-field observations may suggest that social differences in the BTBR strain are anxiety induced.
C1 [Martin, Loren; Sample, Hannah; Gregg, Michael; Wood, Caleb] Azusa Pacific Univ, Dept Grad Psychol, Azusa, CA 91702 USA.
RP Martin, L (reprint author), Azusa Pacific Univ, Dept Grad Psychol, 901 E Alosta Ave, Azusa, CA 91702 USA.
EM lamartin@apu.edu
FU Faculty Research Council at Azusa Pacific University; Faculty for
Undergraduate Neuroscience and San Diego Instruments
FX We thank the Faculty Research Council at Azusa Pacific University for
internal grant support. We also thank Faculty for Undergraduate
Neuroscience and San Diego Instruments for grant support in the form of
an equipment loan of the ANY-Maze system.
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NR 21
TC 1
Z9 1
PU JOHN WILEY & SONS INC
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN, NJ 07030 USA
SN 2162-3279
J9 BRAIN BEHAV
JI Brain Behav.
PD SEP
PY 2014
VL 4
IS 5
BP 754
EP 764
DI 10.1002/brb3.273
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AX5NW
UT WOS:000346974400014
PM 25328850
ER
PT J
AU Wu, P
Teot, L
Murdoch, G
Monaghan-Nichols, AP
McFadden, K
AF Wu, Peter
Teot, Lisa
Murdoch, Geoffrey
Monaghan-Nichols, A. Paula
McFadden, Kathryn
TI Neuropathology of 22q11 Deletion Syndrome in an Infant
SO PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
LA English
DT Article
DE 22q11 deletion syndrome; cortex; interstitial neurons; neuropathology;
subplate; velocardiofacial syndrome
ID MOUSE MODEL; GENES; MRI
AB The 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and one of the chromosomal conditions most associated with psychosis and autism spectrum disorder. To date, only 2 neuropathologic studies of 22q11DS have been reported. Findings included polymicrogyria, neuronal heterotopias, excess subcortical white-matter (interstitial) neurons, significant white-matter gliosis/hypomyelination, and microvasculopathy. Here, we report on a 3-month-old infant with documented 22q11DS, tetralogy of Fallot, and pulmonary atresia. The brain exhibited tortuous cerebral vessels and proportionately smaller occipital lobes. Histologic examination revealed cerebral white-matter pathology and subtle differences in cortical lamination, including an excess of interstitial white-matter neurons compared with a sample of age-matched controls. There was a 15% increase in DARPP-32+ medium spiny neurons in the anterior-superior caudate. In this first neuropathologic report of an infant with 22q11DS, the findings were similar to previously reported manifestations and are likely secondary to perfusion issues, developmental microvasculopathy, and abnormal frontal cortical development.
C1 [Wu, Peter] Univ Pittsburgh, Dietrich Sch Arts & Sci, Pittsburgh, PA 15260 USA.
[Teot, Lisa] Boston Childrens Hosp, Dept Pathol, Boston, MA 02115 USA.
[Murdoch, Geoffrey] Univ Pittsburgh, Sch Med, Div Neuropathol, Pittsburgh, PA 15213 USA.
[Monaghan-Nichols, A. Paula; McFadden, Kathryn] Univ Pittsburgh, Sch Med, Dept Neurobiol, Pittsburgh, PA 15213 USA.
RP McFadden, K (reprint author), Univ Pittsburgh, Sch Med, Dept Neurobiol, 6065 BST 3,3501 Fifth Ave, Pittsburgh, PA 15213 USA.
EM kamst113@pitt.edu
CR Avino TA, 2010, BRAIN RES, V1360, P138, DOI 10.1016/j.brainres.2010.08.091
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NR 15
TC 0
Z9 0
PU ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
PI LAWRENCE
PA 810 EAST 10TH STREET, LAWRENCE, KS 66044 USA
SN 1093-5266
EI 1615-5742
J9 PEDIATR DEVEL PATHOL
JI Pediatr. Dev. Pathol.
PD SEP-OCT
PY 2014
VL 17
IS 5
BP 386
EP 392
DI 10.2350/13-11-1399-CR.1
PG 7
WC Pathology; Pediatrics
SC Pathology; Pediatrics
GA AW2OJ
UT WOS:000346127600009
PM 25019421
ER
PT J
AU Liggins, D
AF Liggins, David
TI Abstract Expressionism and the Communication Problem
SO BRITISH JOURNAL FOR THE PHILOSOPHY OF SCIENCE
LA English
DT Article
ID MATHEMATICS; SCIENCE; AUTISM
AB Some philosophers have recently suggested that the reason mathematics is useful in science is that it expands our expressive capacities. Of these philosophers, only Stephen Yablo has put forward a detailed account of how mathematics brings this advantage. In this article, I set out Yablo's view and argue that it is implausible. Then, I introduce a simpler account and show it is a serious rival to Yablo's.
C1 Univ Manchester, Sch Social Sci, Manchester M13 9PL, Lancs, England.
RP Liggins, D (reprint author), Univ Manchester, Sch Social Sci, Oxford Rd, Manchester M13 9PL, Lancs, England.
EM david.liggins@manchester.ac.uk
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NR 31
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0007-0882
EI 1464-3537
J9 BRIT J PHILOS SCI
JI Br. J. Philos. Sci.
PD SEP
PY 2014
VL 65
IS 3
BP 599
EP 620
DI 10.1093/bjps/axt012
PG 22
WC History & Philosophy Of Science
SC History & Philosophy of Science
GA AU8GU
UT WOS:000345835400008
ER
PT J
AU Wellmann, KA
Varlinskaya, EI
Mooney, SM
AF Wellmann, Kristen A.
Varlinskaya, Elena I.
Mooney, Sandra M.
TI D-Cycloserine ameliorates social alterations that result from prenatal
exposure to valproic acid
SO BRAIN RESEARCH BULLETIN
LA English
DT Article
DE Adolescence; Autism; Prenatal; Rat; Social behavior; Ultrasonic
vocalization
ID AUTISM SPECTRUM DISORDERS; ANXIETY DISORDER; ULTRASONIC VOCALIZATIONS;
IMPROVES SOCIABILITY; REPEATED RESTRAINT; PARTIAL AGONIST; ANIMAL-MODEL;
ADULT RATS; MICE; BEHAVIOR
AB Prenatal exposure to valproic acid (VPA) alters rodent social interactions in a dose-dependent way: exposure to a high dose of VPA (>500 mg/kg) mid-gestation decreases social interactions whereas a moderate dose of VPA (350 mg/kg) increases peer-directed social behavior. The moderate dose also decreases expression of the mRNA for serine in amygdala and orbitofrontal cortex. In this study, we examined whether D-cycloserine could ameliorate VPA-induced alterations in ultrasonic vocalizations (USVs), social interactions, and locomotor activity. Pregnant Sprague Dawley rats were given intraperintoneal injections of VPA (200 mg/kg each) on gestational days 12, 12.5 and 13; controls were injected with saline. Offspring received a subcutaneous injection of saline or D-cycloserine (32 or 64 mg/kg) either acutely (1 h prior to testing) or repeatedly (once per day for four days). Social interactions were assessed during late adolescence, and USVs were recorded concomitantly. Male and female rats that were exposed to VPA demonstrated more locomotor activity than control animals during habituation to the testing chamber. VPA-exposed males showed increased play fighting. D-Cycloserine normalized the VPA-induced increase in play fighting in males and also increased social motivation in females. When the pair contained a VPA-exposed rat, significantly fewer USVs were emitted and 16% of the vocalizations were of a novel waveform. These effects were not seen in pairs containing VPA-exposed animals that were treated with D-cycloserine. Overall, these findings are consistent with data from other laboratories suggesting that D-cycloserine may be a promising pharmacotherapeutic compound for improving social behavior disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Wellmann, Kristen A.; Mooney, Sandra M.] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.] SUNY Binghamton, Dept Psychol, Ctr Dev & Behav Neurosci, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Baltimore, MD 21201 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Binghamton, NY 13902 USA.
[Varlinskaya, Elena I.; Mooney, Sandra M.] Dev Exposure Alcohol Res Ctr, Syracuse, NY 13210 USA.
RP Mooney, SM (reprint author), Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA.
EM kwellmann@peds.umaryland.edu; varlinsk@binghamton.edu;
smooney@peds.umaryland.edu
FU Autism Speaks [4946]; National Institute of Alcohol Abuse and Alcoholism
[AA018693, AA0178231]
FX The authors thank Celina Tran and Nathan Nguyen for technical assistance
and Dr. Jeffery Burgdorf for advice regarding the USV data. This
research was supported by Autism Speaks (4946 to SMM) and the National
Institute of Alcohol Abuse and Alcoholism (AA018693 and AA0178231 to
SMM).
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NR 38
TC 1
Z9 1
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 SEP
PY 2014
VL 108
BP 1
EP 9
DI 10.1016/j.brainresbull.2014.08.001
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AU2UC
UT WOS:000345471900001
PM 25130667
ER
PT J
AU Limeres-Posse, J
Castano-Novoa, P
Abeleira-Pazos, M
Ramos-Barbosa, I
AF Limeres-Posse, Jacobo
Castano-Novoa, Patricia
Abeleira-Pazos, Maite
Ramos-Barbosa, Isabel
TI Behavioural aspects of patients with Autism Spectrum Disorders (ASD)
that affect their dental management
SO MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
LA English
DT Article
DE Dentistry; autism; ASD; behavior management
ID CARIES EXPERIENCE; CHILDREN; ADOLESCENTS; ADULTS
AB Dental treatment in patients with Autism Spectrum Disorders (ASD) can be complicated due to the presence of behavioral alterations. In this group, there are no specific behavioral profiles that allow dentist to anticipate the attitude that a patient will show during a visit. Thus, behavioral attitudes have been described that vary from total permissiveness and collaboration during even bloody procedures, to the absolute impossibility in conducting a simple oral examination.
There is no effective behavioral management technique for all ASD patients. Prior information, such as the type of ASD or the presence of certain concurrent pathologies can help predict the patient's likely behavior. Therefore, gathering all the information in a preliminary interview with the parents/guardians of the patient is recommended. Knowing these factors will allow individualized behavioral management strategies to be designed and facilitates the planning of dental treatment.
C1 [Limeres-Posse, Jacobo; Castano-Novoa, Patricia; Abeleira-Pazos, Maite; Ramos-Barbosa, Isabel] Univ Santiago de Compostela, Sch Med & Dent, Grp Invest Odontol Medicoquirurg OMEQUI, Santiago De Compostela, Spain.
RP Limeres-Posse, J (reprint author), Fac Med & Odontol USC, Unidad Pacientes Especiales, C Entrerrios Sn, Santiago De Compostela 15782, A Coruna, Spain.
EM jacobo.limeres@usc.es
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NR 34
TC 0
Z9 0
PU MEDICINA ORAL S L
PI VALENCIA
PA CALLE DANIEL BALACIART N 4 PTA 17, VALENCIA, 46020, SPAIN
SN 1698-6946
J9 MED ORAL PATOL ORAL
JI Med. Oral Patol. Oral Cir. Bucal
PD SEP
PY 2014
VL 19
IS 5
BP E467
EP E472
DI 10.4317/medoral.19566
PG 6
WC Dentistry, Oral Surgery & Medicine
SC Dentistry, Oral Surgery & Medicine
GA AU1HO
UT WOS:000345371900007
PM 24608219
ER
PT J
AU Machuca-Portillo, G
Cabrerizo-Merino, C
Cutando-Soriano, A
Gimenez-Prats, MJ
Silvestre-Donat, FJ
Tomas-Carmona, I
AF Machuca-Portillo, Guillermo
Cabrerizo-Merino, Carmen
Cutando-Soriano, Antonio
Gimenez-Prats, Maria-Jose
Silvestre-Donat, Farncisco-Javier
Tomas-Carmona, Inmaculada
TI Consensus Report of the XI Congress of the Spanish Society of Odontology
for the Handicapped and Special Patients
SO MEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL
LA English
DT Article
DE Autism; cardiovascular diseases; cerebral palsy; dental implants;
disabled patients; haematological disorders; hospital dentistry
AB This article summarizes the findings of consensus of the XI congress of the SEOEME. All of these conclusions are referring to the review articles responsible to the general rapporteurs in order to bringing up to date knowledge with regard to the use of implants in patients medically compromised and with special needs and, in the dental management of autism and cerebral palsy, in the dental treatment of patients with genetic and adquired haematological disorders, the dental implications of cardiovascular disease and hospital dentistry.
C1 [Machuca-Portillo, Guillermo] Univ Seville, Fac Odontol, E-41009 Seville, Spain.
[Cabrerizo-Merino, Carmen] Univ Odontol Clin, Fac Med, Murcia, Spain.
[Cutando-Soriano, Antonio] Univ Granada, Fac Odontol, E-18071 Granada, Spain.
[Gimenez-Prats, Maria-Jose] Hosp Nen Deu, Barcelona, Spain.
[Silvestre-Donat, Farncisco-Javier] Univ Valencia, Fac Odontol, E-46003 Valencia, Spain.
[Tomas-Carmona, Inmaculada] Univ Santiago de Compostela, Fac Med & Odontol, Santiago De Compostela, Spain.
RP Machuca-Portillo, G (reprint author), Univ Seville, Fac Odontol, C Avicena S-N, E-41009 Seville, Spain.
EM gmachuca@us.es
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Tomás Carmona Inmaculada, 2004, Med Oral, V9, P56
NR 10
TC 0
Z9 0
PU MEDICINA ORAL S L
PI VALENCIA
PA CALLE DANIEL BALACIART N 4 PTA 17, VALENCIA, 46020, SPAIN
SN 1698-6946
J9 MED ORAL PATOL ORAL
JI Med. Oral Patol. Oral Cir. Bucal
PD SEP
PY 2014
VL 19
IS 5
BP E495
EP E499
DI 10.4317/medoral.19569
PG 5
WC Dentistry, Oral Surgery & Medicine
SC Dentistry, Oral Surgery & Medicine
GA AU1HO
UT WOS:000345371900012
PM 24608224
ER
PT J
AU Basil, P
Li, Q
Dempster, EL
Mill, J
Sham, PC
Wong, CCY
McAlonan, GM
AF Basil, P.
Li, Q.
Dempster, E. L.
Mill, J.
Sham, P-C
Wong, C. C. Y.
McAlonan, G. M.
TI Prenatal maternal immune activation causes epigenetic differences in
adolescent mouse brain
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID CPG-BINDING-PROTEIN; DNA METHYLATION; GENE-EXPRESSION; RETT-SYNDROME; L1
RETROTRANSPOSITION; BIPOLAR DISORDER; MUS-MUSCULUS; MECP2;
SCHIZOPHRENIA; AUTISM
AB Epigenetic processes such as DNA methylation have been implicated in the pathophysiology of neurodevelopmental disorders including schizophrenia and autism. Epigenetic changes can be induced by environmental exposures such as inflammation. Here we tested the hypothesis that prenatal inflammation, a recognized risk factor for schizophrenia and related neurodevelopmental conditions, alters DNA methylation in key brain regions linked to schizophrenia, namely the dopamine rich striatum and endocrine regulatory centre, the hypothalamus. DNA methylation across highly repetitive elements (long interspersed element 1 (LINE1) and intracisternal A-particles (IAPs)) were used to proxy global DNA methylation. We also investigated the Mecp2 gene because it regulates transcription of LINE1 and has a known association with neurodevelopmental disorders. Brain tissue was harvested from 6 week old offspring of mice exposed to the viral analog PolyI:C or saline on gestation day 9. We used Sequenom EpiTYPER assay to quantitatively analyze differences in DNA methylation at IAPs, LINE1 elements and the promoter region of Mecp2. In the hypothalamus, prenatal exposure to PolyI: C caused significant global DNA hypomethylation (t = 2.44, P = 0.019, PolyI: C mean 69.67%, saline mean 70.19%), especially in females, and significant hypomethylation of the promoter region of Mecp2, (t = 3.32, P = 0.002; PolyI: C mean 26.57%, saline mean 34.63%). IAP methylation was unaltered. DNA methylation in the striatum was not significantly altered. This study provides the first experimental evidence that exposure to inflammation during prenatal life is associated with epigenetic changes, including Mecp2 promoter hypomethylation. This suggests that environmental and genetic risk factors associated with neurodevelopmental disorders may act upon similar pathways. This is important because epigenetic changes are potentially modifiable and their investigation may open new avenues for treatment.
C1 [Basil, P.; Li, Q.; Sham, P-C; McAlonan, G. M.] Univ Hong Kong, Dept Psychiat, Pokfulam, Hong Kong, Peoples R China.
[Dempster, E. L.; Mill, J.] Univ Exeter, Univ Exeter Med Sch, Exeter, Devon, England.
[Mill, J.; Wong, C. C. Y.] Kings Coll London, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
[Sham, P-C] Univ Hong Kong, Ctr Genom Sci, Pokfulam, Hong Kong, Peoples R China.
[McAlonan, G. M.] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London SE5 8AF, England.
RP McAlonan, GM (reprint author), Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, De Crespigny Pk,Denmark Hill, London SE5 8AF, England.
EM grainne.mcalonan@kcl.ac.uk
RI Wong, Chloe/B-3679-2012
OI Wong, Chloe/0000-0003-4886-8506
FU Post Graduate Scholarship, HKU; Graduate Research Exchange Scheme,
Faculty of Medicine, HKU; Hong Kong Universities General Research Fund
[GRF_HKU 774710M]; ZEE Foundation, Hong Kong
FX We thank members of the Psychiatric Epigenetic group for Infrastructural
support for aspects of the study at Social, Genetic and Developmental
Psychiatry, Department of Forensic and Neurodevelopmental Sciences,
Kings College London and Statistical Genetics group, Department of
Psychiatry, The University of Hong Kong (HKU). PB is supported by a Post
Graduate Scholarship, HKU and the Graduate Research Exchange Scheme,
Faculty of Medicine, HKU. The experimental work was supported by Hong
Kong Universities General Research Fund award GRF_HKU 774710M. We also
acknowledge ZEE Foundation, Hong Kong for their financial support. GM is
a member of the EU-AIMS consortium.
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NR 79
TC 3
Z9 3
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 SEP
PY 2014
VL 4
AR e434
DI 10.1038/tp.2014.80
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000004
PM 25180573
ER
PT J
AU Nardone, S
Sams, DS
Reuveni, E
Getselter, D
Oron, O
Karpuj, M
Elliott, E
AF Nardone, S.
Sams, D. Sharan
Reuveni, E.
Getselter, D.
Oron, O.
Karpuj, M.
Elliott, E.
TI DNA methylation analysis of the autistic brain reveals multiple
dysregulated biological pathways
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DE-NOVO MUTATIONS; SPECTRUM DISORDERS; ENVIRONMENTAL-FACTORS; INCREASED
PREVALENCE; SYNAPTIC FUNCTION; MICROGLIA; NEURONS; ROLES; AGE;
CONNECTIVITY
AB Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions characterized by dysfunction in social interaction, communication and stereotypic behavior. Genetic and environmental factors have been implicated in the development of ASD, but the molecular mechanisms underlying their interaction are not clear. Epigenetic modifications have been suggested as molecular mechanism that can mediate the interaction between the environment and the genome to produce adaptive or maladaptive behaviors. Here, using the Illumina 450 K methylation array we have determined the existence of many dysregulated CpGs in two cortical regions, Brodmann area 10 (BA10) and Brodmann area 24 (BA24), of individuals who had ASD. In BA10 we found a very significant enrichment for genomic areas responsible for immune functions among the hypomethylated CpGs, whereas genes related to synaptic membrane were enriched among hypermethylated CpGs. By comparing our methylome data with previously published transcriptome data, and by performing real-time PCR on selected genes that were dysregulated in our study, we show that hypomethylated genes are often overexpressed, and that there is an inverse correlation between gene expression and DNA methylation within the individuals. Among these genes there were C1Q, C3, ITGB2 (C3R), TNF-alpha, IRF8 and SPI1, which have recently been implicated in synaptic pruning and microglial cell specification. Finally, we determined the epigenetic dysregulation of the gene HDAC4, and we confirm that the locus encompassing C11orf21/TSPAN32 has multiple hypomethylated CpGs in the autistic brain, as previously demonstrated. Our data suggest a possible role for epigenetic processes in the etiology of ASD.
C1 [Nardone, S.; Sams, D. Sharan; Reuveni, E.; Getselter, D.; Oron, O.; Karpuj, M.; Elliott, E.] Bar Ilan Univ, Fac Med, IL-13215 Safed, Israel.
RP Elliott, E (reprint author), Bar Ilan Univ, Fac Med, Hanrietta Sold 8, IL-13215 Safed, Israel.
EM evan.elliott@biu.ac.il
FU ISRAEL SCIENCE FOUNDATION [1047/12]; National Institute of Psychobiology
in Israel
FX We thank Dr Nili Avidan from the Genomics Core Facility of The Rappaport
Family Institute for Research in the Medical Sciences (Haifa, IL, USA)
for the preliminary analysis of the Illumina 450K methylation array. In
addition, we thank Professor Itzhak Haviv from the Bar Ilan University
Faculty of Medicine (Safed, IL, USA) for his informative discussion
which improved the quality of this work. We thank the Autism Tissue
Program, the Harvard Brain Tissue Resource Center and Oxford University
for the control and autism tissues used in this project. This research
was supported by the ISRAEL SCIENCE FOUNDATION (grant No. 1047/12) and
the National Institute of Psychobiology in Israel.
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NR 50
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 SEP
PY 2014
VL 4
AR e433
DI 10.1038/tp.2014.70
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000003
PM 25180572
ER
PT J
AU Oksenberg, N
Haliburton, GDE
Eckalbar, WL
Oren, I
Nishizaki, S
Murphy, K
Pollard, KS
Birnbaum, RY
Ahituv, N
AF Oksenberg, N.
Haliburton, G. D. E.
Eckalbar, W. L.
Oren, I.
Nishizaki, S.
Murphy, K.
Pollard, K. S.
Birnbaum, R. Y.
Ahituv, N.
TI Genome-wide distribution of Auts2 binding localizes with active
neurodevelopmental genes
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; ACUTE LYMPHOBLASTIC-LEUKEMIA; COPY NUMBER
VARIATION; TRANSLOCATION BREAKPOINT; DEVELOPING NEOCORTEX; EXPRESSION
ANALYSIS; NEURON NUMBER; MESSENGER-RNA; ASSOCIATION; NETWORK
AB The autism susceptibility candidate 2 gene (AUTS2) has been associated with multiple neurological diseases including autism spectrum disorders (ASDs). Previous studies showed that AUTS2 has an important neurodevelopmental function and is a suspected master regulator of genes implicated in ASD-related pathways. However, the regulatory role and targets of Auts2 are not well known. Here, by using ChIP-seq (chromatin immunoprecipitation followed by deep sequencing) and RNA-seq on mouse embryonic day 16.5 forebrains, we elucidated the gene regulatory networks of Auts2. We find that the majority of promoters bound by Auts2 belong to genes highly expressed in the developing forebrain, suggesting that Auts2 is involved in transcriptional activation. Auts2 non-promoter-bound regions significantly overlap developing brain-associated enhancer marks and are located near genes involved in neurodevelopment. Auts2-marked sequences are enriched for binding site motifs of neurodevelopmental transcription factors, including Pitx3 and TCF3. In addition, we characterized two functional brain enhancers marked by Auts2 near NRXN1 and ATP2B2, both ASD-implicated genes. Our results implicate Auts2 as an active regulator of important neurodevelopmental genes and pathways and identify novel genomic regions that could be associated with ASD and other neurodevelopmental diseases.
C1 [Oksenberg, N.; Eckalbar, W. L.; Nishizaki, S.; Murphy, K.; Birnbaum, R. Y.; Ahituv, N.] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94158 USA.
[Oksenberg, N.; Haliburton, G. D. E.; Eckalbar, W. L.; Nishizaki, S.; Murphy, K.; Pollard, K. S.; Birnbaum, R. Y.; Ahituv, N.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA.
[Haliburton, G. D. E.; Pollard, K. S.] Gladstone Inst, San Francisco, CA USA.
[Oren, I.; Birnbaum, R. Y.] Ben Gurion Univ Negev, Dept Life Sci, IL-84105 Beer Sheva, Israel.
[Pollard, K. S.] Univ Calif San Francisco, Dept Biostat, San Francisco, CA 94158 USA.
RP Ahituv, N (reprint author), Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, 1550 4th St,Rock Hall,RH584C, San Francisco, CA 94158 USA.
EM ramonb@bgu.ac.il; nadav.ahituv@ucsf.edu
FU Simons Foundation, SFARI [256769]; National Institute of Neurological
Disorders and Stroke [1R01NS079231]; German-Israel Foundation
[I-2360-203]; Career Integration grant (CIG) [630849]; National
Institute of Diabetes and Digestive and Kidney Diseases [1R01DK090382];
National Human Genome Research Institute [R01HG005058, R01HG006768];
National Institute of Child and Human Development [R01HD059862];
National Institute of General Medical Sciences [GM61390]; NHLBI
[HL098179]; J David Gladstone Institutes
FX We would like to thank Megan Laurance for her assistance with IPA and
Mariel Mckenzie Finucane with her assistance with statistics. This work
was supported by a grant from the Simons Foundation, SFARI no. 256769,
the National Institute of Neurological Disorders and Stroke grant number
1R01NS079231 and German-Israel Foundation grant number I-2360-203. RYB
is supported in part by the Career Integration grant (CIG) number
630849. NA is also supported in part by the National Institute of
Diabetes and Digestive and Kidney Diseases grant number 1R01DK090382,
the National Human Genome Research Institute grant numbers R01HG005058
and R01HG006768, the National Institute of Child and Human Development
grant number R01HD059862, and the National Institute of General Medical
Sciences grant number GM61390. KSP and GDEH are also supported by NHLBI
grant number HL098179, a gift from the San Simeon Fund, and
institutional funds from the J David Gladstone Institutes.
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NR 92
TC 0
Z9 0
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 SEP
PY 2014
VL 4
AR e431
DI 10.1038/tp.2014.78
PG 9
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000001
PM 25180570
ER
PT J
AU Polderman, TJC
Hoekstra, RA
Posthuma, D
Larsson, H
AF Polderman, T. J. C.
Hoekstra, R. A.
Posthuma, D.
Larsson, H.
TI The co-occurrence of autistic and ADHD dimensions in adults: an
etiological study in 17 770 twins
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; DE-NOVO MUTATIONS; SPECTRUM DISORDERS;
GENERAL-POPULATION; ENVIRONMENTAL-INFLUENCES; INHIBITORY CONTROL;
GENETIC INFLUENCES; COMMUNITY SAMPLE; SWEDISH TWIN; TRAITS
AB Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) often occur together. To obtain more insight in potential causes for the co-occurrence, this study examined the genetic and environmental etiology of the association between specific ASD and ADHD disorder dimensions. Self-reported data on ASD dimensions social and communication difficulties (ASDsc), and repetitive and restricted behavior and interests (ASDr), and ADHD dimensions inattention (IA), and hyperactivity/impulsivity (HI) were assessed in a community sample of 17 770 adult Swedish twins. Phenotypic, genetic and environmental associations between disorder dimensions were examined in a multivariate model, accounting for sex differences. ASDr showed the strongest associations with IA and HI in both sexes (r(p) 0.33 to 0.40). ASDsc also correlated moderately with IA (females r(p) 0.29 and males r(p) 0.35) but only modestly with HI (females r(p) 0.17 and males r(p) 0.20). Genetic correlations ranged from 0.22 to 0.64 and were strongest between ASDr and IA and HI. Sex differences were virtually absent. The ASDr dimension (reflecting restricted, repetitive and stereotyped patterns of behavior, interests and activities) showed the strongest association with dimensions of ADHD, on a phenotypic, genetic and environmental level. This study opens new avenues for molecular genetic research. As our findings demonstrated that genetic overlap between disorders is dimension-specific, future gene-finding studies on psychiatric comorbidity should focus on carefully selected genetically related dimensions of disorders.
C1 [Polderman, T. J. C.; Posthuma, D.] Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom, NL-1081 HV Amsterdam, Netherlands.
[Hoekstra, R. A.] Open Univ, Fac Sci, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England.
[Posthuma, D.] Vrije Univ Amsterdam Med Ctr, Dept Complex Trait Genet, Amsterdam, Netherlands.
[Larsson, H.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Polderman, TJC (reprint author), Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Neurosci Campus Amsterdam,De Boelelaan 1085, NL-1081 HV Amsterdam, Netherlands.
EM tinca.polderman@vu.nl
FU Netherlands Organization for Scientific research (NWO Brain Cognition)
[433-09-228]; Neuroscience Campus Amsterdam; Swedish research council
FX We thank the participants of STAGE. TJCP and DP would like to
acknowledge financial support from the Netherlands Organization for
Scientific research (NWO Brain & Cognition: 433-09-228), and the
Neuroscience Campus Amsterdam. HL would like to acknowledge financial
support from the Swedish research council.
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NR 62
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 2158-3188
J9 TRANSL PSYCHIAT
JI Transl. Psychiatr.
PD SEP
PY 2014
VL 4
AR e435
DI 10.1038/tp.2014.84
PG 7
WC Psychiatry
SC Psychiatry
GA AT3HS
UT WOS:000344827000005
PM 25180574
ER
PT J
AU Natsubori, T
Inoue, H
Abe, O
Takano, Y
Iwashiro, N
Aoki, Y
Koike, S
Yahata, N
Katsura, M
Gonoi, W
Sasaki, H
Takao, H
Kasai, K
Yamasue, H
AF Natsubori, Tatsunobu
Inoue, Hideyuki
Abe, Osamu
Takano, Yosuke
Iwashiro, Norichika
Aoki, Yuta
Koike, Shinsuke
Yahata, Noriaki
Katsura, Masaki
Gonoi, Wataru
Sasaki, Hiroki
Takao, Hidemasa
Kasai, Kiyoto
Yamasue, Hidenori
TI Reduced Frontal Glutamate plus Glutamine and N-Acetylaspartate Levels in
Patients With Chronic Schizophrenia but not in Those at Clinical High
Risk for Psychosis or With First-Episode Schizophrenia
SO SCHIZOPHRENIA BULLETIN
LA English
DT Article
DE anterior cingulate cortex; at-risk mental state; biomarkers; frontal
lobe; magnetic resonance imaging; neurochemical abnormality
ID MAGNETIC-RESONANCE-SPECTROSCOPY; GRAY-MATTER VOLUME; AUTISM SPECTRUM
DISORDERS; CHILDHOOD-ONSET SCHIZOPHRENIA; ANTERIOR CINGULATE CORTEX;
NMDA RECEPTOR SUBUNITS; TWIN PAIRS DISCORDANT; H-1 MR SPECTROSCOPY;
PREFRONTAL CORTEX; TEMPORAL-LOBE
AB Changes in brain pathology as schizophrenia progresses have been repeatedly suggested by previous studies. Meta-analyses of previous proton magnetic resonance spectroscopy (H-1 MRS) studies at each clinical stage of schizophrenia indicate that the abnormalities of N-acetylaspartate (NAA) and glutamatergic metabolites change progressively. However, to our knowledge, no single study has addressed the possible differences in 1H MRS abnormalities in subjects at 3 different stages of disease, including those at ultrahigh risk for psychosis (UHR), with first-episode schizophrenia (FES), and with chronic schizophrenia (ChSz). In the current study, 24 patients with UHR, 19 FES, 25 ChSz, and their demographically matched 3 independent control groups (n = 26/19/28 for the UHR, FES, and ChSz control groups, respectively) underwent 1H MRS in a 3-Tesla scanner to examine metabolites in medial prefrontal cortex. The analysis revealed significant decreases in the medial prefrontal NAA and glutamate + glutamine (Glx) levels, specifically in the ChSz group as indexed by a significant interaction between stage (UHR/FES/ChSz) and clinical status (patients/controls) (P = .008). Furthermore, the specificity of NAA and Glx reductions compared with the other metabolites in the patients with ChSz was also supported by a significant interaction between the clinical status and types of metabolites that only occurred at the ChSz stage (P = .001 for NAA, P = .004 for Glx). The present study demonstrates significant differences in 1H MRS abnormalities at different stages of schizophrenia, which potentially correspond to changes in glutamatergic neurotransmission, plasticity, and/or excitotoxicity and regional neuronal integrity with relevance for the progression of schizophrenia.
C1 [Natsubori, Tatsunobu; Inoue, Hideyuki; Takano, Yosuke; Iwashiro, Norichika; Aoki, Yuta; Koike, Shinsuke; Yahata, Noriaki; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan.
[Abe, Osamu; Katsura, Masaki; Gonoi, Wataru; Sasaki, Hiroki; Takao, Hidemasa] Univ Tokyo, Grad Sch Med, Dept Radiol, Tokyo 1138655, Japan.
[Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Tokyo, Japan.
RP Yamasue, H (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM yamasue-tky@umin.ac.jp
FU Ministry of Education, Culture, Sports, Science and Technology (MEXT);
KAKENHI [22689034, 20591378, 21249064]; Global Center of Excellence
(COE) Program "Comprehensive Center of Education and Research for
Chemical Biology of the Diseases"; Health and Labour Sciences Research
Grants for Comprehensive Research on Disability, Health and Welfare
[H22-seishin-ippan-015]
FX "Development of biomarker candidates for social behavior" project
carried out under the Strategic Research Program for Brain Sciences by
the Ministry of Education, Culture, Sports, Science and Technology
(MEXT); KAKENHI (22689034 to H.Y., 20591378 to N.Y., 21249064 to K. K.);
Global Center of Excellence (COE) Program "Comprehensive Center of
Education and Research for Chemical Biology of the Diseases" (to N.Y.);
Health and Labour Sciences Research Grants for Comprehensive Research on
Disability, Health and Welfare (H22-seishin-ippan-015 to K.K.).
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NR 85
TC 6
Z9 7
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0586-7614
EI 1745-1701
J9 SCHIZOPHRENIA BULL
JI Schizophr. Bull.
PD SEP
PY 2014
VL 40
IS 5
BP 1128
EP 1139
DI 10.1093/schbul/sbt124
PG 12
WC Psychiatry
SC Psychiatry
GA AT0ET
UT WOS:000344610800023
PM 24023251
ER
PT J
AU LaGasse, AB
AF LaGasse, A. Blythe
TI Effects of a Music Therapy Group Intervention on Enhancing Social Skills
in Children with Autism
SO JOURNAL OF MUSIC THERAPY
LA English
DT Article
DE autism spectrum disorder; group intervention; music therapy; social
skills
ID SPECTRUM DISORDERS; RESPONSIVENESS; BEHAVIORS; PROFILE; SPEECH; ADULTS;
SONG
AB Background: Research indicates that music therapy can improve social behaviors and joint attention in children with Autism Spectrum Disorder (ASD); however, more research on the use of music therapy interventions for social skills is needed to determine the impact of group music therapy.
Objective: To examine the effects of a music therapy group intervention on eye gaze, joint attention, and communication in children with ASD.
Method: Seventeen children, ages 6 to 9, with a diagnosis of ASD were randomly assigned to the music therapy group (MTG) or the no-music social skills group (SSG). Children participated in ten 50-minute group sessions over a period of 5 weeks. All group sessions were designed to target social skills. The Social Responsiveness Scale (SRS), the Autism Treatment Evaluation Checklist (ATEC), and video analysis of sessions were used to evaluate changes in social behavior.
Results: There were significant between-group differences for joint attention with peers and eye gaze towards persons, with participants in the MTG demonstrating greater gains. There were no significant between-group differences for initiation of communication, response to communication, or social withdraw/behaviors. There was a significant interaction between time and group for SRS scores, with improvements for the MTG but not the SSG. Scores on the ATEC did not differ over time between the MTG and SSG.
Conclusions: The results of this study support further research on the use of music therapy group interventions for social skills in children with ASD. Statistical results demonstrate initial support for the use of music therapy social groups to develop joint attention.
C1 [LaGasse, A. Blythe] Colorado State Univ, Ft Collins, CO 80523 USA.
RP LaGasse, AB (reprint author), 1778 Campus Delivery, Ft Collins, CO 80524 USA.
EM blagasse@colostate.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 47
TC 0
Z9 0
PU OXFORD UNIV PRESS INC
PI CARY
PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA
SN 0022-2917
EI 2053-7395
J9 J MUSIC THER
JI J. Music Ther.
PD FAL
PY 2014
VL 51
IS 3
BP 250
EP 275
DI 10.1093/jmt/thu012
PG 26
WC Music; Rehabilitation
SC Music; Rehabilitation
GA AS3KU
UT WOS:000344177300004
PM 25053766
ER
PT J
AU Anitha, A
Thanseem, I
Nakamura, K
Vasu, MM
Yamada, K
Ueki, T
Iwayama, Y
Toyota, T
Tsuchiya, KJ
Iwata, Y
Suzuki, K
Sugiyama, T
Tsujii, M
Yoshikawa, T
Mori, N
AF Anitha, Ayyappan
Thanseem, Ismail
Nakamura, Kazuhiko
Vasu, Mahesh M.
Yamada, Kazuo
Ueki, Takatoshi
Iwayama, Yoshimi
Toyota, Tomoko
Tsuchiya, Kenji J.
Iwata, Yasuhide
Suzuki, Katsuaki
Sugiyama, Toshiro
Tsujii, Masatsugu
Yoshikawa, Takeo
Mori, Norio
TI Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals
with autism
SO JOURNAL OF PSYCHIATRY & NEUROSCIENCE
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; ANTERIOR CINGULATE CORTEX;
HIGH-FUNCTIONING AUTISM; RISK GENE; SCHIZOPHRENIA-PATIENTS; SPECTRUM
DISORDERS; PSYCHOSIS VARIANT; SOCIAL COGNITION; REVISED VERSION;
WORKING-MEMORY
AB Background: In a genome-wide association study of autism, zinc finger protein 804A (ZNF804A) single nucleotide polymorphisms (SNPs) were found to be nominally associated in verbally deficient individuals with autism. Zinc finger protein 804A copy number variations (CNVs) have also been observed in individuals with autism. In addition, ZNF804A is known to be involved in theory of mind (ToM) tasks, and ToM deficits are deemed responsible for the communication and social challenges faced by individuals with autism. We hypothesized that ZNF804A could be a risk gene for autism. Methods: We examined the genetic association and CNVs of ZNF804A in 841 families in which 1 or more members had autism. We compared the expression of ZNF804A in the postmortem brains of individuals with autism (n = 8) and controls (n = 13). We also assessed in vitro the effect of ZNF804A silencing on the expression of several genes known to be involved in verbal efficiency and social cognition. Results: We found that rs7603001 was nominally associated with autism (p = 0.018). The association was stronger (p = 0.008) in the families of individuals with autism who were verbally deficient (n = 761 families). We observed ZNF804A CNVs in 7 verbally deficient boys with autism. In ZNF804A knockdown cells, the expression of synaptosomal-associated protein, 25kDa (SNAP25) was reduced compared with controls (p = 0.009). The expression of ZNF804A (p = 0.009) and SNAP25 (p = 0.009) were reduced in the anterior cingulate gyrus (ACG) of individuals with autism. There was a strong positive correlation between the expression of ZNF804A and SNAP25 in the ACG (p < 0.001). Limitations: Study limitations include our small sample size of postmortem brains. Conclusion: Our results suggest that ZNF804A could be a potential candidate gene mediating the intermediate phenotypes associated with verbal traits in individuals with autism.
C1 [Anitha, Ayyappan; Tsuchiya, Kenji J.; Tsujii, Masatsugu; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan.
[Thanseem, Ismail; Vasu, Mahesh M.; Iwata, Yasuhide; Suzuki, Katsuaki; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Nakamura, Kazuhiko] Hirosaki Univ, Sch Med, Dept Psychiat, Hirosaki, Aomori 036, Japan.
[Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Yoshikawa, Takeo] RIKEN Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama, Japan.
[Ueki, Takatoshi] Hamamatsu Univ Sch Med, Dept Anat, Hamamatsu, Shizuoka 4313192, Japan.
[Sugiyama, Toshiro] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4313192, Japan.
[Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota, Japan.
RP Nakamura, K (reprint author), Hirosaki Univ, Sch Med, Dept Psychiat, 5 Zaifu Cho, Hirosaki, Aomori 0368562, Japan.
EM nakakazu@cc.hirosaki-u.ac.jp
FU National Institute of Mental Health [1U24MH081810]; PHS grant [R24 MH
068855]; Ministry of Education, Culture, Sports, Science, and
Technology, Japan; Takeda Science Foundation, Japan; Strategic Research
Program for Brain Sciences (Integrated research on neuropsychiatric
disorders)
FX We gratefully acknowledge the resources provided by the 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 (P.I.). We thank Dr.
Jane Pickett, Director of Brain Resources and Data, ATP, for
facilitating brain tissue collection. Human tissue was obtained from the
NICHD BTB for Developmental Disorders at the University of Maryland.
Tissue samples were also provided by the Harvard Brain Tissue Resource
Center, which is supported in part by PHS grant number R24 MH 068855.
This work was supported by Grants-in-Aid for Scientific Research from
the Ministry of Education, Culture, Sports, Science, and Technology,
Japan (A.A., K.N.), the Takeda Science Foundation, Japan (K.S.), and
partly by the Strategic Research Program for Brain Sciences (Integrated
research on neuropsychiatric disorders). We thank Tae Takahashi and Mika
Oyaizu for technical assistance.
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NR 55
TC 0
Z9 0
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 1180-4882
EI 1488-2434
J9 J PSYCHIATR NEUROSCI
JI J. Psychiatry Neurosci.
PD SEP
PY 2014
VL 39
IS 5
BP 294
EP 303
DI 10.1503/jpn.130126
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AS9PJ
UT WOS:000344574000003
PM 24866414
ER
PT J
AU Valles, A
Martens, GJM
De Weerd, P
Poelmans, G
Aschrafi, A
AF Valles, Astrid
Martens, Gerard J. M.
De Weerd, Peter
Poelmans, Geert
Aschrafi, Armaz
TI MicroRNA-137 regulates a glucocorticoid receptor-dependent signalling
network: implications for the etiology of schizophrenia
SO JOURNAL OF PSYCHIATRY & NEUROSCIENCE
LA English
DT Article
ID DORSOLATERAL PREFRONTAL CORTEX; AUTISM SPECTRUM DISORDERS;
ALZHEIMERS-DISEASE; MOUSE MODEL; ENVIRONMENTAL ENRICHMENT; SYNAPTIC
PLASTICITY; INTELLECTUAL DISABILITY; TARGET PREDICTION; AMYLOID-BETA;
EXPRESSION
AB Background: Schizophrenia is a highly heritable neurodevelopmental disorder. A genetic variant of microRNA-137 (miR-137) has yielded significant genome-wide association with schizophrenia, suggesting that this miRNA plays a key role in its etiology. Therefore, a molecular network of interacting miR-137 targets may provide insights into the biological processes underlying schizophrenia. Methods: We first used bioinformatics tools to obtain and analyze predicted human and mouse miR-137 targets. We then determined miR-137 levels in rat barrel cortex after environmental enrichment (EE), a neuronal plasticity model that induces upregulation of several predicted miR-137 targets. Subsequently, expression changes of these predicted targets were examined through loss of miR-137 function experiments in rat cortical neurons. Finally, we conducted bioinformatics and literature analyses to examine the targets that were upregulated upon miR-137 downregulation. Results: Predicted human and mouse miR-137 targets were enriched in neuronal processes, such as axon guidance, neuritogenesis and neurotransmission. The miR-137 levels were significantly downregulated after EE, and we identified 5 novel miR-137 targets through loss of miR-137 function experiments. These targets fit into a glucocorticoid receptor-dependent signalling network that also includes 3 known miR-137 targets with genome-wide significant association with schizophrenia. Limitations: The bioinformatics analyses involved predicted human and mouse miR-137 targets owing to lack of information on predicted rat miR-137 targets, whereas follow-up experiments were performed with rats. Furthermore, indirect effects in the loss of miR-137 function experiments cannot be excluded. Conclusion: We have identified a miR-137-regulated protein network that contributes to our understanding of the molecular basis of schizophrenia and provides clues for future research into psychopharmacological treatments for schizophrenia.
C1 [Valles, Astrid; De Weerd, Peter] Maastricht Univ, Fac Psychol & Neurosci, Dept Neurocognit, Maastricht, Netherlands.
[Valles, Astrid; Martens, Gerard J. M.; Poelmans, Geert] Radboud Univ Nijmegen, NCMLS, Dept Mol Anim Physiol, Donders Inst Brain Cognit & Behav, NL-6525 AJ Nijmegen, Netherlands.
[De Weerd, Peter; Poelmans, Geert; Aschrafi, Armaz] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands.
[Poelmans, Geert] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands.
[Aschrafi, Armaz] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neuroinformat, NL-6525 AJ Nijmegen, Netherlands.
RP Aschrafi, A (reprint author), Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neuroinformat, Heyendaalseweg 135, NL-6525 AJ Nijmegen, Netherlands.
EM a.aschrafi@donders.ru.nl
RI Martens, Gerard/D-1925-2010
FU VICI grant from the Netherlands Foundation of Scientific Research (NWO)
[453_04_002]; Dutch Top Institute Pharma grant [T5-209]; Donders Center
for Neuroscience fellowship award of the Radboud University Nijmegen
Medical Centre; FP7-Marie Curie International Reintegration Grant
FX We thank Laurens Kirkels, Mahshid Gazorpak, Aron Kos and Nikkie Olde
Loohuis for technical assistance. This work was supported by VICI grant
453_04_002 from the Netherlands Foundation of Scientific Research (NWO)
to P. De Weerd, a Dutch Top Institute Pharma grant (T5-209) to G.J.M
Martens, and the Donders Center for Neuroscience fellowship award of the
Radboud University Nijmegen Medical Centre and the FP7-Marie Curie
International Reintegration Grant to A. Aschrafi.
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NR 72
TC 0
Z9 0
PU CMA-CANADIAN MEDICAL ASSOC
PI OTTAWA
PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA
SN 1180-4882
EI 1488-2434
J9 J PSYCHIATR NEUROSCI
JI J. Psychiatry Neurosci.
PD SEP
PY 2014
VL 39
IS 5
BP 312
EP 320
DI 10.1503/jpn.130269
PG 9
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AS9PJ
UT WOS:000344574000005
PM 24866554
ER
PT J
AU Fitzgerald, D
AF Fitzgerald, Des
TI The trouble with brain imaging: Hope, uncertainty and ambivalence in the
neuroscience of autism
SO BIOSOCIETIES
LA English
DT Article
DE autism; neuroscience; expectations; hope; ambivalence
ID SPECTRUM DISORDERS; EXPECTATIONS; GENETICS; SCIENCE; CLASSIFICATION;
GENETICIZATION; NEUROPOLITICS; SOCIOLOGY; KNOWLEDGE; FUTURES
AB This article is about ambivalent dynamics of hope and uncertainty within neurobiological autism research. While much literature has commented on the positive hopes and expectations that surround technoscientific projects, fewer have focused on less promissory visions - and, in particular, on the presence of uncertainty and ambiguity among working scientists. This article shows how autism neuroscientists actually talk about their research in ambivalent, entangled registers of both promising hope and deflated uncertainty. The article locates the dynamic between these in an 'intermediate terrain' of autism research - in which autism is both 'present' as an epidemiological and social force, but also 'ambiguous' as a (not yet) well-defined clinical and scientific object. It argues that neuroscientists work through this terrain by drawing not only on a discourse of unalloyed hope and promise, but by entangling their research within a more complex register of 'structured ambivalence', which includes languages of uncertainty, deflation and low expectation. As well as showing the novelty of research within autism's 'intermediate terrain', this adds to a growing literature on the 'sociology of low expectations', and analyses the presence of such feelings among scientific researchers particularly.
C1 Kings Coll London, Dept Social Sci Hlth & Med, London, England.
RP Fitzgerald, D (reprint author), Kings Coll London, Dept Social Sci Hlth & Med, D11 East Wing,Strand Campus, London, England.
EM des.fitzgerald@kcl.ac.uk
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TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 241
EP 261
DI 10.1057/biosoc.2014.15
PG 21
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800002
ER
PT J
AU Gillis-Buck, EM
Richardson, SS
AF Gillis-Buck, Eva M.
Richardson, Sarah S.
TI Autism as a biomedical platform for sex differences research
SO BIOSOCIETIES
LA English
DT Article
DE autism; Asperger's Syndrome; biomedical platform; gender; sex
differences; translational research
ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGERS-SYNDROME; SAVANT
SYNDROME; GENDER; BRAIN; MATH; EPIDEMIOLOGY; STEREOTYPES; PERFORMANCE
AB Autism has become a 'biomedical platform' for sex differences research in fields such as genetics, endocrinology and neuroscience. Increasingly, researchers in these fields pose the male prevalence of autism as a model for investigating sex differences in the brain, and offer basic research on sex differences in the brain as a resource for understanding the etiology of autism. The use of autism as a biomedical platform for sex differences research obscures empirical and interpretive contestations surrounding claims about the male prevalence of autism. We argue that the uncritical use of this research platform across many fields stands to distort scientific research on autism and contribute to harmful gender stereotypes.
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[Gillis-Buck, Eva M.] Univ Calif San Francisco, Sch Med, San Francisco, CA 94143 USA.
RP Richardson, SS (reprint author), Harvard Univ, Dept Hist Sci, Sci Ctr 371, Cambridge, MA 02138 USA.
EM gillisbuckem@gmail.com; srichard@fas.harvard.edu
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NR 104
TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 262
EP 283
DI 10.1057/biosoc.2014.17
PG 22
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800003
ER
PT J
AU Hart, B
AF Hart, Brendan
TI Autism parents & neurodiversity: Radical translation, joint embodiment
and the prosthetic environment
SO BIOSOCIETIES
LA English
DT Article
DE autism; looping; classifications; disability; patient advocacy
ID CHILDREN; DISABILITY; SPECTRUM; SERVICES; KINSHIP; GENDER
AB It has become increasingly common to view and discuss autism as a form of difference, rather than a disorder. Moreover, the autism spectrum has generated new possibilities for personhood and social inclusion. These developments have typically been ascribed to the recent work of autistic autobiographers and autistic self-advocates associated with the neurodiversity movement, who are providing a sort of linguistic infrastructure to support autistic personhood. Drawing on historical and ethnographic research, this article makes the complementary and analogous claim that parents of autistic children have used autism therapies to create a technical infrastructure to support autistic personhood. The article follows an earlier genealogical thread to argue that parents have used the techniques and technologies of behavioral therapies (sometimes said to be incommensurable with neurodiversity's philosophy) in ways that have actually helped establish this autism-as-difference view. They have done so by translating their child's behaviors and utterances and engaging in forms of 'joint embodiment' with her to create enabling 'prosthetic environments' where her unique personhood can be recognized. Through an ethnographic focus on 'prosaic technologies' and the politics of everyday practice, the article also provides a thicker and more grounded account of what Ian Hacking calls the "looping effect of human kinds".
C1 [Hart, Brendan] Columbia Univ, Dept Sociomed Sci, New York, NY 10027 USA.
RP Hart, B (reprint author), Columbia Univ, Dept Sociomed Sci, 5th Floor,722 W 168th St, New York, NY 10027 USA.
EM bgh2105@columbia.edu
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NR 93
TC 2
Z9 2
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 284
EP 303
DI 10.1057/biosoc.2014.20
PG 20
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800004
ER
PT J
AU Lappe, MD
AF Lappe, Martine D.
TI Taking care: Anticipation, extraction and the politics of temporality in
autism science
SO BIOSOCIETIES
LA English
DT Article
DE autism; research; care; ethics; participation; science
ID REPRODUCTIVE WORK; CLINICAL-TRIALS; MOTHER-BLAME; PERSPECTIVE;
ENVIRONMENT; DISABILITY; LIFE; BIOMEDICINE; EXPERIENCE; EMERGENCE
AB Research on autism has increased significantly over the past several decades. This upsurge parallels the steep rise in autism diagnoses. Together, these conditions have increased the number of people occupying the social role of research participants, including investigators, analysts and subjects. Simultaneously, addressing scientific questions about autism now involves new research efforts including prospective enriched-risk cohort studies exploring the environmental and genetic causes of autism during pregnancy and early child development. Rather than one-time donations, these studies require extended commitments on the part of all those involved in the research. This article draws on ethnographic observations of research practices and interviews with investigators, study staff and participants to examine the emergent relationships between research and care in this area of autism science. I introduce the notion of 'taking care' to describe the forms of anticipatory labor and mutual extraction involved in longitudinal research. Through tracing three modes of taking care across practices of study design, data collection and participation, I argue that research and care become intimately intertwined and mutually constructed during the research process. These findings reflect how processes of taking and giving are constitutive of research participation for all those engaged in the research enterprise. This article considers the relationships between these practices and new forms of community and sociality related to biomedical science.
C1 Univ Calif Los Angeles, Inst Soc & Genet, Los Angeles, CA 90095 USA.
RP Lappe, MD (reprint author), Univ Calif Los Angeles, Inst Soc & Genet, Box 957221,1320 Rolfe Hall, Los Angeles, CA 90095 USA.
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NR 109
TC 1
Z9 1
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 304
EP 328
DI 10.1057/biosoc.2014.14
PG 25
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800005
ER
PT J
AU Navon, D
Eyal, G
AF Navon, Daniel
Eyal, Gil
TI The trading zone of autism genetics: Examining the intersection of
genomic and psychiatric classification
SO BIOSOCIETIES
LA English
DT Article
DE autism; genetics; trading zone; genomic designation; looping;
Phelan-McDermid Syndrome
ID FRAGILE-X-SYNDROME; 22Q13 DELETION SYNDROME; EARLY INFANTILE-AUTISM;
DEVELOPMENTAL PSYCHOPATHOLOGY; TRANSLATIONAL RESEARCH; CHILDHOOD AUTISM;
CYSTIC-FIBROSIS; GENETICIZATION; DISORDERS; MICRODELETION
AB This article argues that the impact of genetics on psychiatry, and on our understanding of human difference more generally, will be mediated by the threefold social role of diagnostic categories as (i) coordinating devices; (ii) identities; (iii) sites of looping processes. This argument is explored by examining the intersection of a rare genetic disorder - 22q13 Deletion/Phelan-McDermid Syndrome (PMS) - with the much broader but genetically heterogeneous category of autism. We show that a 'genomically designated' classification such as PMS thrives as an object of research and social mobilization by virtue of its capacity to interface with, rather than supplant, the existing psychiatric diagnosis of autism. Autism genetics thus functions as a 'trading zone' (Galison, 1997) that allows for the exchange of knowledge, biomedical objects and resources despite incommensurable ends and frameworks of understanding.
C1 [Navon, Daniel] Harvard Univ, Cambridge, MA 02138 USA.
[Eyal, Gil] Columbia Univ, Dept Sociol, New York, NY 10027 USA.
RP Navon, D (reprint author), Harvard Univ, 1730 Cambridge St,S410, Cambridge, MA 02138 USA.
EM dnavon@rwj.harvard.edu; ge2027@columbia.edu
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NR 109
TC 0
Z9 0
PU PALGRAVE MACMILLAN LTD
PI BASINGSTOKE
PA BRUNEL RD BLDG, HOUNDMILLS, BASINGSTOKE RG21 6XS, HANTS, ENGLAND
SN 1745-8552
EI 1745-8560
J9 BIOSOCIETIES
JI BioSocieties
PD SEP
PY 2014
VL 9
IS 3
SI SI
BP 329
EP 352
DI 10.1057/biosoc.2014.18
PG 24
WC Social Sciences, Biomedical
SC Biomedical Social Sciences
GA AS4CU
UT WOS:000344221800006
ER
PT J
AU Penketh, V
Hare, DJ
Flood, A
Walker, S
AF Penketh, Victoria
Hare, Dougal Julian
Flood, Andrea
Walker, Samantha
TI Attachment in Adults with Intellectual Disabilities: Preliminary
Investigation of the Psychometric Properties of the Manchester
Attachment Scale-Third Party Observational Measure
SO JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
LA English
DT Article
DE adults; assessment; attachment theory; intellectual disability
ID AUTISM SPECTRUM DISORDER; MENTAL-RETARDATION; DOWN-SYNDROME; CHALLENGING
BEHAVIOR; CHILDREN; PEOPLE; PERSONALITY; SENSITIVITY; HEALTH; MODEL
AB Background The Manchester Attachment Scale-Third party observational measure (MAST) was developed to assess secure attachment style for adults with intellectual disabilities. The psychometric properties of the MAST were examined.
Materials and Methods Professional carers (N = 40) completed the MAST and measures related to the construct of attachment theory [Edward Zigler-Yale Personality Questionnaire (EZPQ), Emotional Rating Scale (ERS) and the Learning Disability Casemix Scale (LDCS)] regarding individuals with an intellectual disability (N = 57). Individuals with an intellectual disability (N = 14) completed the Self-report Assessment of Attachment Security (SRAAS).
Results The MAST was found to have good internal consistency, test-retest reliability and convergent validity. MAST scores were negatively correlated with level of intellectual disability and challenging behaviour (CB) as measured by LDCS.
Conclusions Support was provided for the reliability and validity of the MAST and a relationship between attachment security, level of intellectual disability and CB. The results of the study and implications of attachment theory for service provision are discussed.
C1 [Penketh, Victoria] Lancashire Care NHS Fdn Trust, Preston, Lancs, England.
[Hare, Dougal Julian] Univ Manchester, Sch Psychol Sci, Manchester M13 9PL, Lancs, England.
[Flood, Andrea] Together Trust, Cheadle, England.
[Walker, Samantha] Calderstones Partnership NHS Fdn Trust, Clitheroe, 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
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NR 47
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1360-2322
EI 1468-3148
J9 J APPL RES INTELLECT
JI J. Appl. Res. Intellect. Disabil.
PD SEP
PY 2014
VL 27
IS 5
BP 458
EP 470
DI 10.1111/jar.12070
PG 13
WC Psychology, Educational; Rehabilitation
SC Psychology; Rehabilitation
GA AR9AY
UT WOS:000343864300005
PM 24022943
ER
PT J
AU Johnels, JA
Kopp, S
Gillberg, C
AF Johnels, Jakob Asberg
Kopp, Svenny
Gillberg, Christopher
TI Spelling Difficulties in School-Aged Girls With
Attention-Deficit/Hyperactivity Disorder: Behavioral, Psycholinguistic,
Cognitive, and Graphomotor Correlates
SO JOURNAL OF LEARNING DISABILITIES
LA English
DT Article
DE writing; literacy; ADHD; girls; memory; executive functions; handwriting
ID DEFICIT-HYPERACTIVITY DISORDER; REGULATED STRATEGY-DEVELOPMENT;
OPPOSITIONAL-DEFIANT DISORDER; WORKING-MEMORY; READING-COMPREHENSION;
CHILDREN; ADHD; DYSLEXIA; ADOLESCENTS; AUTISM
AB Writing difficulties are common among children with attention-deficit/hyperactivity disorder (ADHD), but the nature of these difficulties has not been well studied. Here we relate behavioral, psycholinguistic, cognitive (memory/executive), and graphomotor measures to spelling skills in school-age girls with ADHD (n = 30) and an age-matched group of typically developed spellers (TYPSP, n = 35). When subdividing the ADHD group into those with poor (ADHDPSP, n = 19) and typical spelling (ADHDTYPSP, n = 11), the two subgroups did not differ with regard to inattentive or hyperactive-impulsive symptom severity according to parent or teacher ratings. Both ADHD subgroups also had equally severe difficulties in graphomotor control-handwriting and (parent ratings of) written expression as compared to the TYPSP group. In contrast, ADHDPSP had problems relative to ADHDTYPSP and TYPSP on phonological and orthographic recoding (choice tasks) and verbal memory (digit span) and were more likely to make commissions on a continuous performance task (CPT). Further analyses using the collapsed ADHD group showed that both digit span and the presence of CPT commissions predicted spelling performance independently of each other. Finally, results showed that phonological recoding skills mediated the association between digit span and spelling performance in ADHD. Theoretical and educational implications are discussed.
C1 [Johnels, Jakob Asberg; Kopp, Svenny; Gillberg, Christopher] Univ Gothenburg, SE-41119 Gothenburg, Sweden.
RP Johnels, JA (reprint author), Univ Gothenburg, Gillberg Neuropsychiat Ctr, Kungsgatan 12, SE-41119 Gothenburg, Sweden.
EM psyjaas@psy.gu.se
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NR 71
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-2194
EI 1538-4780
J9 J LEARN DISABIL-US
JI J. Learn. Disabil.
PD SEP-OCT
PY 2014
VL 47
IS 5
BP 424
EP 434
DI 10.1177/0022219412467058
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AS1TX
UT WOS:000344065600003
ER
PT J
AU Libero, LE
DeRamus, TP
Deshpande, HD
Kana, RK
AF Libero, Lauren E.
DeRamus, Thomas P.
Deshpande, Hrishikesh D.
Kana, Rajesh K.
TI Surface-based morphometry of the cortical architecture of autism
spectrum disorders: volume, thickness, area, and gyrification
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism spectrum disorder; Surface-based morphometry; Freesurfer; Social
brain; Neuroanatomy
ID HUMAN CEREBRAL-CORTEX; MAGNETIC-RESONANCE IMAGES; MIRROR NEURON
DYSFUNCTION; VOXEL-BASED MORPHOMETRY; EMBEDDED FIGURES TASK;
AGE-RELATED-CHANGES; BRAIN SIZE; FUNCTIONAL CONNECTIVITY; MINICOLUMNAR
PATHOLOGY; GEOMETRICALLY ACCURATE
AB Structural neuroimaging studies of autism spectrum disorder (ASD) have uncovered widespread neuroanatomical abnormalities, which may have a significant impact on brain function, connectivity, and on behavioral symptoms of autism. The findings of previous structural MRI studies have largely been distributed across several brain areas, with limited consistency. The current study examined neuroanatomical abnormalities by comparing surface-based measures of cortical morphology (CT: cortical thickness, CSA: cortical surface area, CV: cortical volume, and GI: gyrification index) in 55 high-functioning children and adults with ASD to 60 age-and-IQ-matched typically developing (TD) peers. A few brain areas, the fusiform gyrus (FG), middle temporal gyrus (MTG), and inferior frontal gyrus (IFG), emerged to be primarily different in their morphology between the two groups. Compared to TD participants, ASD participants had significantly smaller CV in left MTG, reduced CSA in bilateral MTG and FG, reduced GI in left supramarginal gyrus, and significantly increased CT in the pars opercularis of the IFG. As a function of age, ASD participants had significant reductions in: CT in the pars opercularis, CSA of the left rostral middle frontal gyrus, and GI for left supramarginal gyrus. Thus, alterations in cortical morphology in ASD were seen primarily in regions that are considered part of the social brain. Overall, these findings point to: neuroanatomical alterations in social brain areas, developmental differences in neuroanatomy, and the need to study neuroanatomy at multiple levels in order to better characterize the cortical architecture of ASD. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Libero, Lauren E.; DeRamus, Thomas P.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
[Deshpande, Hrishikesh D.] Univ Alabama Birmingham, Dept Radiol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, CIRC 235G,1719 6th Ave South, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU UAB Department of Psychology funds
FX This research was supported by the UAB Department of Psychology funds to
R.K. The authors would like to thank Heather Wadsworth, Adrian
Lazarescu, and Dr. Lawrence Ver Hoef for their help in different aspects
of data collection.
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NR 137
TC 0
Z9 0
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 SEP
PY 2014
VL 62
BP 1
EP 10
DI 10.1016/j.neuropsychologia.2014.07.001
PG 10
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500001
PM 25019362
ER
PT J
AU Croydon, A
Pimperton, H
Ewing, L
Duchaine, BC
Pellicano, E
AF Croydon, Abigail
Pimperton, Hannah
Ewing, Louise
Duchaine, Brad C.
Pellicano, Elizabeth
TI The Cambridge Face Memory Test for Children (CFMT-C): A new tool for
measuring face recognition skills in childhood
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Face recognition; Face memory; Development; Children; Inversion effect
ID DEVELOPMENTAL PROSOPAGNOSIA; IDENTITY RECOGNITION; MOTHERS FACE; AUTISM;
PERCEPTION; INDIVIDUALS; INFORMATION; EXPERTISE; ABILITY; ADULTS
AB Face recognition ability follows a lengthy developmental course, not reaching maturity until well into adulthood. Valid and reliable assessments of face recognition memory ability are necessary to examine patterns of ability and disability in face processing, yet there is a dearth of such assessments for children. We modified a well-known test of face memory in adults, the Cambridge Face Memory Test (Duchaine & Nakayama, 2006, Neuropsychologia, 44,576-585), to make it developmentally appropriate for children. To establish its utility, we administered either the upright or inverted versions of the computerised Cambridge Face Memory Test - Children (CFMT-C) to 401 children aged between 5 and 12 years. Our results show that the CFMT-C is sufficiently sensitive to demonstrate age-related gains in the recognition of unfamiliar upright and inverted faces, does not suffer from ceiling or floor effects, generates robust inversion effects, and is capable of detecting difficulties in face memory in children diagnosed with autism. Together, these findings indicate that the CFMT-C constitutes a new valid assessment tool for children's face recognition skills. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Croydon, Abigail; Pellicano, Elizabeth] Univ London, Inst Educ, Ctr Res Autism & Educ CRAE, London WC1N 1AZ, England.
[Pimperton, Hannah] UCL, Inst Cognit Neurosci, London, England.
[Ewing, Louise] Birkbeck, Dept Psychol Sci, London, England.
[Ewing, Louise; Pellicano, Elizabeth] Univ Western Australia, Sch Psychol, Perth, WA 6009, Australia.
[Duchaine, Brad C.] Dartmouth Coll, Dept Psychol & Brain Sci, Hanover, NH 03755 USA.
RP Pellicano, E (reprint author), Inst Educ, Ctr Res Autism & Educ, Dept Psychol & Human Dev, 25 Woburn Sq, London WC1H 0AA, England.
EM l.pellicano@ioe.ac.uk
FU Clothworkers' Foundation; Pears Foundation
FX This paper is in memory of Dr Andy Calder, a mentor and friend, whose
dedication to the highest quality scientific research in face processing
was unsurpassed. We are very grateful to the children, families and
school staff who kindly took part in this research. Thanks also to Laura
Dixon, Louise Edgington, Marlene Flogel, Emma Jaquet, Lydia King, Elena
Klaric, Catherine Manning, Romina Palermo, Gill Rhodes, Erica Salomone,
Martin Thirkettle and Ellie Wilson for help with data collection and to
Marc Stears for comments on a previous version of this manuscript.
Research at the Centre for Research in Autism and Education (CRAE) is
also supported by The Clothworkers' Foundation and Pears Foundation.
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NR 45
TC 1
Z9 1
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0028-3932
EI 1873-3514
J9 NEUROPSYCHOLOGIA
JI Neuropsychologia
PD SEP
PY 2014
VL 62
BP 60
EP 67
DI 10.1016/j.neuropsychologia.2014.07.008
PG 8
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500007
PM 25054837
ER
PT J
AU Rhodes, G
Ewing, L
Jeffery, L
Avard, E
Taylor, L
AF Rhodes, Gillian
Ewing, Louise
Jeffery, Linda
Avard, Eleni
Taylor, Libby
TI Reduced adaptability, but no fundamental disruption, of norm-based
face-coding mechanisms in cognitively able children and adolescents with
autism
SO NEUROPSYCHOLOGIA
LA English
DT Article
DE Autism; Face recognition; Face identity aftereffects; Adaptive coding;
Norm-based coding
ID RECOGNITION ABILITY; MEMORY TEST; INDIVIDUAL-DIFFERENCES; ADAPTIVE FACE;
IDENTITY; ADAPTATION; PROSOPAGNOSIA; PERCEPTION; ATTENTION; PATTERNS
AB Faces are adaptively coded relative to visual norms that are updated by experience. This coding is compromised in autism and the broader autism phenotype, suggesting that atypical adaptive coding of faces may be an endophenotype for autism. Here we investigate the nature of this atypicality, asking whether adaptive face-coding mechanisms are fundamentally altered, or simply less responsive to experience, in autism. We measured adaptive coding, using face identity aftereffects, in cognitively able children and adolescents with autism and neurotypical age- and ability-matched participants. We asked whether these aftereffects increase with adaptor identity strength as in neurotypical populations, or whether they show a different pattern indicating a more fundamental alteration in face-coding mechanisms. As expected, face identity aftereffects were reduced in the autism group, but they nevertheless increased with adaptor strength, like those of our neurotypical participants, consistent with norm-based coding of face identity. Moreover, their aftereffects correlated positively with face recognition ability, consistent with an intact functional role for adaptive coding in face recognition ability. We conclude that adaptive norm-based face-coding mechanisms are basically intact in autism, but are less readily calibrated by experience. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Rhodes, Gillian; Ewing, Louise; Jeffery, Linda; Avard, Eleni; Taylor, Libby] Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, Crawley, WA 6009, Australia.
RP Rhodes, G (reprint author), Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM gillian.rhodes@uwa.edu.au
FU Australian Research Council Centre of Excellence in Cognition and its
Disorders [CE110001021]; ARC [DP0877379, DP130102300]
FX This research was supported by the Australian Research Council Centre of
Excellence in Cognition and its Disorders (CE110001021), an ARC
Professorial Fellowship to Rhodes (DP0877379) and an ARC Discovery
Outstanding Researcher Award to Rhodes (DP130102300). We thank Mayu
Nishimura and Daphne Maurer for co-creating the Robbers Game used in the
Identity Aftereffects task, Ainsley Read for assistance designing
testing protocols and assistance with testing, and Nichola Burton,
Francis Caulfield and Samantha Bank for assistance with testing. Ethical
approval was granted by the Human Research Ethics Committee of the
University of Western Australia.
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NR 47
TC 0
Z9 0
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 SEP
PY 2014
VL 62
BP 262
EP 268
DI 10.1016/j.neuropsychologia.2014.07.030
PG 7
WC Behavioral Sciences; Neurosciences; Psychology, Experimental
SC Behavioral Sciences; Neurosciences & Neurology; Psychology
GA AR2BV
UT WOS:000343389500026
PM 25090925
ER
PT J
AU Bonsall, A
AF Bonsall, Aaron
TI The Social Context of Occupations: Analysis of a Father Feeding his
Daughter Diagnosed with Cerebral Palsy
SO OTJR-OCCUPATION PARTICIPATION AND HEALTH
LA English
DT Article
DE cerebral palsy; mealtime; occupation
ID CHILDREN; MOTHERS; DISABILITY; CHILDHOOD; FAMILIES; AUTISM; GROWTH
AB The purpose of this article is to examine a father feeding his daughter who is diagnosed with cerebral palsy in order to identify the contexts that make this occupation significant. The analysis of direct observation and interviews demonstrates significant moments where two individuals make intersubjective connections. Themes that are presented are the Intensity of Mealtime, Connections Between Participants, and Adapted Forms of Communication. Both the difficulties and rewards of mealtime are illustrated within these themes. This analysis reveals the structure and importance of doing together in influencing and determining occupations. From a clinical perspective, the meaningfulness of fathering occupations highlights the importance of including fathers in family-centered care.
C1 Univ Missouri, Dept Occupat Therapy, Columbia, MO 65211 USA.
RP Bonsall, A (reprint author), Univ Missouri, Dept Occupat Therapy, 804A Clark Hall, Columbia, MO 65211 USA.
EM Bonsalla@health.missouri.edu
CR Baum C.M., 2005, OCCUPATIONAL THERAPY, P243
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NR 46
TC 0
Z9 0
PU SLACK INC
PI THOROFARE
PA 6900 GROVE RD, THOROFARE, NJ 08086 USA
SN 1539-4492
EI 1938-2383
J9 OTJR-OCCUP PART HEAL
JI OTJR-Occup. Particip. Health
PD FAL
PY 2014
VL 34
IS 4
BP 193
EP 201
DI 10.3928/15394492-20141006-04
PG 9
WC Rehabilitation
SC Rehabilitation
GA AR1PO
UT WOS:000343357300004
PM 25347757
ER
PT J
AU Lim, JH
Seo, EJ
Kim, YM
Cho, HJ
Lee, JO
Cheon, CK
Yoo, HW
AF Lim, Ji-Hun
Seo, Eul-Ju
Kim, Yoo-Mi
Cho, Hyun-Ju
Lee, Jin-Ok
Cheon, Chong Kun
Yoo, Han-Wook
TI A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG
Syndrome
SO ANNALS OF LABORATORY MEDICINE
LA English
DT Article
DE KBG syndrome; ANKRD11; Array CGH; 16q24.3 microdeletion
ID MUTATIONS; DELETION
AB KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using-high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
C1 [Lim, Ji-Hun; Seo, Eul-Ju; Kim, Yoo-Mi; Cho, Hyun-Ju; Yoo, Han-Wook] Univ Ulsan, Coll Med, Ctr Med Genet, Seoul, South Korea.
[Lim, Ji-Hun; Seo, Eul-Ju] Univ Ulsan, Coll Med, Dept Lab Med, Seoul, South Korea.
[Kim, Yoo-Mi; Yoo, Han-Wook] Univ Ulsan, Coll Med, Dept Pediat, Seoul, South Korea.
[Kim, Yoo-Mi; Yoo, Han-Wook] Asan Med Ctr, Seoul 138736, South Korea.
[Lim, Ji-Hun] Univ Ulsan, Coll Med, Ulsan Univ Hosp, Dept Lab Med, Ulsan 680749, South Korea.
[Lee, Jin-Ok] Asan Med Ctr, Asan Inst Life Sci, Seoul 138736, South Korea.
[Cheon, Chong Kun] Pusan Natl Univ, Childrens Hosp, Dept Pediat, Pusan, South Korea.
RP Seo, EJ (reprint author), Asan Med Ctr, Dept Lab Med, 88 Olymp Ro 43 Gil, Seoul 138736, South Korea.
EM ejseo@amc.seoul.kr
CR Brancati F, 2004, AM J MED GENET A, V131A, P144, DOI 10.1002/ajmg.a.30292
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Lo-Castro A, 2013, AM J MED GENET B, V162B, P17, DOI 10.1002/ajmg.b.32113
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NR 11
TC 1
Z9 1
PU KOREAN SOC LABORATORY MEDICINE
PI SEOUL
PA KOREAN MEDICAL ASSOC BLDG, RM 602,302-75 ICHON 1-DONG, YONGSAN-GU,
SEOUL, 140-721, SOUTH KOREA
SN 2234-3806
EI 2234-3814
J9 ANN LAB MED
JI Ann. Lab. Med.
PD SEP
PY 2014
VL 34
IS 5
BP 390
EP 394
DI 10.3343/alm.2014.34.5.390
PG 5
WC Medical Laboratory Technology
SC Medical Laboratory Technology
GA AQ6YN
UT WOS:000342959900010
PM 25187894
ER
PT J
AU Oliveira, JIN
Albuquerque, EL
Fulco, UL
Mauriz, PW
Sarmento, RG
Caetano, EWS
Freire, VN
AF Oliveira, J. I. N.
Albuquerque, E. L.
Fulco, U. L.
Mauriz, P. W.
Sarmento, R. G.
Caetano, E. W. S.
Freire, V. N.
TI Conductance of single microRNAs chains related to the autism spectrum
disorder
SO EPL
LA English
DT Article
ID DNA CHARGE-TRANSPORT; RNA NUCLEOSIDES; BASE-PAIRS; GENE; BIOGENESIS;
HYDROGEN; DEVICES
AB The charge transport properties of single-stranded microRNAs (miRNAs) chains associated to autism disorder were investigated. The computations were performed within a tight-binding model, together with a transfer matrix technique, with ionization energies and hopping parameters obtained by quantum chemistry method. Current-voltage (I x V) curves of twelve miRNA chains related to the autism spectrum disorders were calculated and analysed. We have obtained both semiconductor and insulator behavior, and a relationship between the current intensity and the autism-related miRNA bases sequencies, suggesting that a kind of electronic biosensor can be developed to distinguish different profiles of autism disorders. Copyright (C) EPLA, 2014
C1 [Oliveira, J. I. N.; Fulco, U. L.; Mauriz, P. W.] Univ Fed Rio Grande do Norte, Dept Biofis & Farmacol, BR-59072970 Natal, RN, Brazil.
[Mauriz, P. W.] Inst Fed Educ Ciencia & Tecnol Maranhao, Dept Fis, BR-65030005 Sao Luis, RN, Brazil.
[Sarmento, R. G.] Univ Fed Piaui, Dept Ciencias Biol, BR-64800000 Floriano, PI, Brazil.
[Sarmento, R. G.] Inst Fed Educ Ciencia & Tecnol Piaui, BR-64000040 Teresina, PI, Brazil.
[Caetano, E. W. S.] Inst Fed Educ Ciencia & Tecnol Ceara, BR-60040531 Fortaleza, CE, Brazil.
[Freire, V. N.] Univ Fed Ceara, Dept Fis, BR-60455760 Fortaleza, CE, Brazil.
RP Oliveira, JIN (reprint author), Univ Fed Rio Grande do Norte, Dept Biofis & Farmacol, BR-59072970 Natal, RN, Brazil.
RI Albuquerque, E. L./B-9056-2015
FU Brazilian Research Agency CAPES (Rede NanoBioTec); Brazilian Research
Agency CNPq (INCT-Nano(Bio)Simes, Casadinho/Procad and PNPD)
FX This work was partially financed by the Brazilian Research Agencies
CAPES (Rede NanoBioTec) and CNPq (INCT-Nano(Bio)Simes, Casadinho/Procad
and PNPD).
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NR 39
TC 0
Z9 0
PU EPL ASSOCIATION, EUROPEAN PHYSICAL SOCIETY
PI MULHOUSE
PA 6 RUE DES FRERES LUMIERE, MULHOUSE, 68200, FRANCE
SN 0295-5075
EI 1286-4854
J9 EPL-EUROPHYS LETT
JI EPL
PD SEP
PY 2014
VL 107
IS 6
AR 68006
DI 10.1209/0295-5075/107/68006
PG 6
WC Physics, Multidisciplinary
SC Physics
GA AQ8YD
UT WOS:000343125400030
ER
PT J
AU Deriziotis, P
O'Roak, BJ
Graham, SA
Estruch, SB
Dimitropoulou, D
Bernier, RA
Gerdts, J
Shendure, J
Eichler, EE
Fisher, SE
AF Deriziotis, Pelagia
O'Roak, Brian J.
Graham, Sarah A.
Estruch, Sara B.
Dimitropoulou, Danai
Bernier, Raphael A.
Gerdts, Jennifer
Shendure, Jay
Eichler, Evan E.
Fisher, Simon E.
TI De novo TBR1 mutations in sporadic autism disrupt protein functions
SO NATURE COMMUNICATIONS
LA English
DT Article
ID ULNAR-MAMMARY SYNDROME; HOLT-ORAM SYNDROME; LANGUAGE DISORDER; SPECTRUM
DISORDERS; SEVERE SPEECH; TRANSCRIPTION FACTOR; PROJECTION NEURONS;
CEREBRAL-CORTEX; HUMAN TBX3; GENE
AB Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
C1 [Deriziotis, Pelagia; Graham, Sarah A.; Estruch, Sara B.; Dimitropoulou, Danai; Fisher, Simon E.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands.
[O'Roak, Brian J.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
[O'Roak, Brian J.] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA.
[Bernier, Raphael A.; Gerdts, Jennifer] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
[Fisher, Simon E.] Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.
RP Fisher, SE (reprint author), Max Planck Inst Psycholinguist, Language & Genet Dept, Wundtlaan 1, NL-6525 XD Nijmegen, Netherlands.
EM simon.fisher@mpi.nl
RI Fisher, Simon/E-9130-2012; Derizioti, Pelagia/C-3857-2015
OI Fisher, Simon/0000-0002-3132-1996; Derizioti,
Pelagia/0000-0001-5544-8345
FU Max Planck Society; Simons Foundation Autism Research Initiative [SFARI
303241]; NIH [MH101221]
FX We wish to thank Arianna Vino and Flavia Bianca Cristian for technical
assistance. This work was supported by the Max Planck Society and a
grant from the Simons Foundation Autism Research Initiative (SFARI
303241 to E. E. E.) and NIH (MH101221 to E. E. E.). We are grateful to
all of the families at the participating Simons Simplex Collection (SSC)
sites, as well as the principal investigators (A. Beaudet, J.
Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E.
Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin,
R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C.
Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E.
Wijsman). We appreciate obtaining access to phenotypic data on SFARI
Base. Approved researchers can obtain the SSC population data set
described in this study (https://ordering.base.sfari.org/similar to
browse_collection/archive[ssc_v13]/ui:view) by applying at
https://base.sfari.org.
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NR 53
TC 1
Z9 1
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4954
DI 10.1038/ncomms5954
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ7HZ
UT WOS:000342984800010
PM 25232744
ER
PT J
AU Schreiner, MJ
Karlsgodt, KH
Uddin, LQ
Chow, C
Congdon, E
Jalbrzikowski, M
Bearden, CE
AF Schreiner, Matthew J.
Karlsgodt, Katherine H.
Uddin, Lucina Q.
Chow, Carolyn
Congdon, Eliza
Jalbrzikowski, Maria
Bearden, Carrie E.
TI Default mode network connectivity and reciprocal social behavior in
22q11.2 deletion syndrome
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE functional MRI; resting state; velocardiofacial syndrome;
dysconnectivity
ID RESTING-STATE NETWORKS; FUNCTIONAL CONNECTIVITY; DIAGNOSTIC INTERVIEW;
BRAIN-DYSFUNCTION; AUTISTIC TRAITS; SCHIZOPHRENIA; DISORDERS;
INDIVIDUALS; SPECTRUM; DEFICITS
AB 22q11.2 deletion syndrome (22q11DS) is a genetic mutation associated with disorders of cortical connectivity and social dysfunction. However, little is known about the functional connectivity (FC) of the resting brain in 22q11DS and its relationship with social behavior. A seed-based analysis of resting-state functional magnetic resonance imaging data was used to investigate FC associated with the posterior cingulate cortex (PCC), in (26) youth with 22qDS and (51) demographically matched controls. Subsequently, the relationship between PCC connectivity and Social Responsiveness Scale (SRS) scores was examined in 22q11DS participants. Relative to 22q11DS participants, controls showed significantly stronger FC between the PCC and other default mode network (DMN) nodes, including the precuneus, precentral gyrus and left frontal pole. 22q11DS patients did not show age-associated FC changes observed in typically developing controls. Increased connectivity between PCC, medial prefrontal regions and the anterior cingulate cortex, was associated with lower SRS scores (i.e. improved social competence) in 22q11DS. DMN integrity may play a key role in social information processing. We observed disrupted DMN connectivity in 22q11DS, paralleling reports from idiopathic autism and schizophrenia. Increased strength of long-range DMN connectivity was associated with improved social functioning in 22q11DS. These findings support a 'developmental-disconnection' hypothesis of symptom development in this disorder.
C1 [Schreiner, Matthew J.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Interdept Neurosci Program, Los Angeles, CA 90095 USA.
[Schreiner, Matthew J.; Chow, Carolyn; Congdon, Eliza; Jalbrzikowski, Maria; Bearden, Carrie E.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA.
[Karlsgodt, Katherine H.] Feinstein Inst Med Res, Dept Psychiat, Manhasset, NY 11030 USA.
[Karlsgodt, Katherine H.] Zucker Hillside Hosp, Glen Oaks, NY 11004 USA.
[Uddin, Lucina Q.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Jalbrzikowski, Maria; Bearden, Carrie E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
RP Bearden, CE (reprint author), 300 Med Plaza,Suite 2267, Los Angeles, CA 90095 USA.
EM cbearden@mednet.ucla.edu
RI Karlsgodt, Katherine/H-2964-2013
OI Karlsgodt, Katherine/0000-0003-3332-4231
FU National Institute of Mental Health [R01 MH085953]; NIH/NICHD
[P50-HD-055784]; Neuroimaging Training Program fellowship [T32
T90DA022768]; UL1 Coordinating Center Grant [UL1 -DE019580,
PL1MH083271]; [K01M8092288]
FX This study was supported by grants from the National Institute of Mental
Health R01 MH085953 to CEO.); NIH/NICHD (grant P50-HD-055784 Pilot
Project Grant to C.E.B.); Neuroimaging Training Program fellowship (T32
T90DA022768 to M.J.S.), UL1 Coordinating Center Grant (UL1 -DE019580 and
PL1MH083271 to R.B.) and K01M8092288 (to L.Q.U.).
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NR 47
TC 4
Z9 4
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 SEP
PY 2014
VL 9
IS 9
BP 1261
EP 1267
DI 10.1093/scan/nst114
PG 7
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IH
UT WOS:000342985600002
PM 23912681
ER
PT J
AU Gong, PY
Liu, JT
Li, S
Zhou, XL
AF Gong, Pingyuan
Liu, Jinting
Li, She
Zhou, Xiaolin
TI Dopamine beta-hydroxylase gene modulates individuals' empathic ability
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE dopamine beta-hydroxylase; DBH; -1021C/T; polymorphism; empathy
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME;
PARKINSONS-DISEASE; EMOTIONAL EMPATHY; DBH LOCUS; SCHIZOPHRENIA; ADULTS;
NOREPINEPHRINE; POLYMORPHISM
AB Dopamine beta-hydroxylase (DBH), an enzyme that converts dopamine to norepinephrine, has broad influences on social functions. In this study, we examined to what extent two polymorphisms (-1021C/T and a 19 bp insertion/deletion) in DBH gene modulate individuals' empathic perception and response, which were measured, respectively, by reading the mind in the eyes test and the empathic concern subscale of interpersonal reactivity index. Results showed that polymorphism at -1021C/T, but not the 19 bp insertion/deletion, accounts for 2.3% variance of empathic perception and 1.4% variance of empathic response. Individuals with the CC genotype, which is associated with higher DBH activity, manifested greater empathic ability than those with CT/TT genotypes. These findings demonstrate the importance of DBH -1021C/T as a genetic basis of empathy and in predicting individual differences in social and affective processing.
C1 [Gong, Pingyuan; Liu, Jinting; Zhou, Xiaolin] Peking Univ, Ctr Brain & Cognit Sci, Beijing 100871, Peoples R China.
[Gong, Pingyuan; Li, She] Peking Univ, Dept Psychol, Beijing 100871, Peoples R China.
[Gong, Pingyuan; Li, She] Henan Univ Sci & Technol, Lab Med Mol Biol, Luoyang 471003, Peoples R China.
[Zhou, Xiaolin] Minist Educ, Key Lab Machine Percept, Beijing 100871, Peoples R China.
[Zhou, Xiaolin] Peking Univ, PKU IDG McGovern Inst Brain Res, Beijing 100871, Peoples R China.
RP Zhou, XL (reprint author), Peking Univ, Dept Psychol, Beijing 100871, Peoples R China.
EM xz104@pku.edu.cn
FU National Basic Research Program of China (973 Program) [2010CB833904];
China Postdoctoral Science Foundation [2013M530002]; Natural Science
Foundation of China [30110972, 91232708]
FX This study was supported by grants from National Basic Research Program
of China (973 Program: 2010CB833904), China Postdoctoral Science
Foundation (2013M530002), Natural Science Foundation of China (30110972,
91232708), and China Postdoctoral Science Foundation (2013M530002). We
thank Mr Peizhe Zhang, Mr Guochang Cao, Miss Hua Ma and Miss Lin Lei for
their assistances in data collection, and Mr Philip Blue and two
anonymous reviewers for their comments on an earlier version of the
manuscript.
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NR 43
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 SEP
PY 2014
VL 9
IS 9
BP 1341
EP 1345
DI 10.1093/scan/nst122
PG 5
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AQ7IH
UT WOS:000342985600012
PM 23988761
ER
PT J
AU Robertson, CE
Thomas, C
Kravitz, DJ
Wallace, GL
Baron-Cohen, S
Martin, A
Baker, CI
AF Robertson, Caroline E.
Thomas, Cibu
Kravitz, Dwight J.
Wallace, Gregory L.
Baron-Cohen, Simon
Martin, Alex
Baker, Chris I.
TI Global motion perception deficits in autism are reflected as early as
primary visual cortex
SO BRAIN
LA English
DT Article
DE autism; motion; fMRI; vision; global perception
ID SPECTRUM DISORDERS; AREA MT; COORDINATE SYSTEM; DECISION-MAKING;
PARIETAL CORTEX; STRIATE CORTEX; NEURAL BASIS; HUMAN BRAIN; CHILDREN;
MECHANISM
AB Individuals with autism are often characterized as 'seeing the trees, but not the forest'-attuned to individual details in the visual world at the expense of the global percept they compose. Here, we tested the extent to which global processing deficits in autism reflect impairments in (i) primary visual processing; or (ii) decision-formation, using an archetypal example of global perception, coherent motion perception. In an event-related functional MRI experiment, 43 intelligence quotient and age-matched male participants (21 with autism, age range 15-27 years) performed a series of coherent motion perception judgements in which the amount of local motion signals available to be integrated into a global percept was varied by controlling stimulus viewing duration (0.2 or 0.6 s) and the proportion of dots moving in the correct direction (coherence: 4%, 15%, 30%, 50%, or 75%). Both typical participants and those with autism evidenced the same basic pattern of accuracy in judging the direction of motion, with performance decreasing with reduced coherence and shorter viewing durations. Critically, these effects were exaggerated in autism: despite equal performance at the long duration, performance was more strongly reduced by shortening viewing duration in autism (P<0.015) and decreasing stimulus coherence (P<0.008). To assess the neural correlates of these effects we focused on the responses of primary visual cortex and the middle temporal area, critical in the early visual processing of motion signals, as well as a region in the intraparietal sulcus thought to be involved in perceptual decision-making. The behavioural results were mirrored in both primary visual cortex and the middle temporal area, with a greater reduction in response at short, compared with long, viewing durations in autism compared with controls (both P<0.018). In contrast, there was no difference between the groups in the intraparietal sulcus (P>0.574). These findings suggest that reduced global motion perception in autism is driven by an atypical response early in visual processing and may reflect a fundamental perturbation in neural circuitry.
C1 [Robertson, Caroline E.; Thomas, Cibu; Kravitz, Dwight J.; Wallace, Gregory L.; Martin, Alex; Baker, Chris I.] NIMH, Lab Brain & Cognit, NIH, Bethesda, MD 20892 USA.
[Robertson, Caroline E.; Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 8AH, England.
[Baron-Cohen, Simon] Cambridgeshire & Peterborough NHS Fdn Trust, CLASS Clin, Peterborough, England.
RP Robertson, CE (reprint author), Harvard Soc Fellows, 78 Mt Auburn St, Cambridge, MA 02138 USA.
EM carolinerobertson@fas.harvard.edu
FU NIH-Cambridge Fellowship; MRC; Autism Research Trust; Wellcome Trust;
Intramural Research Program of the National Institute of Mental Health
[1-ZIA-MH002893-07, 1-ZIA-MH002920-04]; NIH Combined Neuroscience
Institutional Review Board
FX This work was supported by the Intramural Research Program of the
National Institute of Mental Health under grant numbers
1-ZIA-MH002893-07 and 1-ZIA-MH002920-04. Ethics approval for this study
was granted by the NIH Combined Neuroscience Institutional Review Board
under protocol number 10-M-0027. We gratefully acknowledge the
Gates-Cambridge Trust and the NIH-Cambridge Fellowship (C.E.R.). S.B-C.
was supported by the MRC, the Autism Research Trust, and the Wellcome
Trust during the period of this work. We declare no competing financial
interests.
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NR 59
TC 4
Z9 4
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 SEP
PY 2014
VL 137
BP 2588
EP 2599
DI 10.1093/brain/awu189
PN 9
PG 12
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ7LD
UT WOS:000342996000026
PM 25060095
ER
PT J
AU Daly, E
Ecker, C
Hallahan, B
Deeley, Q
Craig, M
Murphy, C
Johnston, P
Spain, D
Gillan, N
Gudbrandsen, M
Brammer, M
Giampietro, V
Lamar, M
Page, L
Toal, F
Schmitz, N
Cleare, A
Robertson, D
Rubia, K
Murphy, DGM
AF Daly, Eileen
Ecker, Christine
Hallahan, Brian
Deeley, Quinton
Craig, Michael
Murphy, Clodagh
Johnston, Patrick
Spain, Debbie
Gillan, Nicola
Gudbrandsen, Maria
Brammer, Michael
Giampietro, Vincent
Lamar, Melissa
Page, Lisa
Toal, Fiona
Schmitz, Nicole
Cleare, Anthony
Robertson, Dene
Rubia, Katya
Murphy, Declan G. M.
TI Response inhibition and serotonin in autism: a functional MRI study
using acute tryptophan depletion
SO BRAIN
LA English
DT Article
DE autistic spectrum disorder; impulsivity and inhibition disorders
ID EVENT-RELATED FMRI; SPECTRUM DISORDERS; BEHAVIORAL-INHIBITION;
REPETITIVE BEHAVIORS; NEURONAL RESPONSES; HEALTHY-VOLUNTEERS;
ASPERGERS-SYNDROME; STOP-SIGNAL; HUMAN-BRAIN; HUMANS
AB It has been suggested that the restricted, stereotyped and repetitive behaviours typically found in autism are underpinned by deficits of inhibitory control. The biological basis of this is unknown but may include differences in the modulatory role of neurotransmitters, such as serotonin, which are implicated in the condition. However, this has never been tested directly. We therefore assessed the modifying role of serotonin on inhibitory brain function during a Go/No-Go task in 14 adults with autism and normal intelligence and 14 control subjects that did not differ in gender, age and intelligence. We undertook a double-blind, placebo-controlled, crossover trial of acute tryptophan depletion using functional magnetic resonance imaging. Following sham, adults with autism relative to controls had reduced activation in key inhibitory regions of inferior frontal cortex and thalamus, but increased activation of caudate and cerebellum. However, brain activation was modulated in opposite ways by depletion in each group. Within autistic individuals depletion upregulated fronto-thalamic activations and downregulated striato-cerebellar activations toward control sham levels, completely 'normalizing' the fronto-cerebellar dysfunctions. The opposite pattern occurred in controls. Moreover, the severity of autism was related to the degree of differential modulation by depletion within frontal, striatal and thalamic regions. Our findings demonstrate that individuals with autism have abnormal inhibitory networks, and that serotonin has a differential, opposite, effect on them in adults with and without autism. Together these factors may partially explain the severity of autistic behaviours and/or provide a novel (tractable) treatment target.
C1 [Daly, Eileen; Ecker, Christine; Deeley, Quinton; Craig, Michael; Murphy, Clodagh; Johnston, Patrick; Spain, Debbie; Gillan, Nicola; Gudbrandsen, Maria; Toal, Fiona; Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev, Dept Forens & Neurodev Sci, Inst Psychiat, London WC2R 2LS, England.
[Hallahan, Brian] Natl Univ Ireland, Dept Psychiat, Galway, Ireland.
[Brammer, Michael; Giampietro, Vincent] Kings Coll London, Dept Neuroimaging, Inst Psychiat, London WC2R 2LS, England.
[Lamar, Melissa] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Page, Lisa] Sussex Partnership NHS Fdn Trust, Brighton & Sussex Med Sch, Brighton, E Sussex, England.
[Schmitz, Nicole] UCL, Dementia Res Unit, Inst Neurol, London WC1E 6BT, England.
[Cleare, Anthony] Kings Coll London, Dept Psychol Med, Inst Psychiat, London WC2R 2LS, England.
[Robertson, Dene] South London & Maudsley NHS Fdn, Behav & Dev Clin Acad Grp, London, England.
[Rubia, Katya] Kings Coll London, Dept Child & Adolescent Psychiat, Inst Psychiat, London WC2R 2LS, England.
RP Daly, E (reprint author), IOP, Box 50,DeCrespigny Pk, London SE5 8AF, England.
EM eileen.daly@kcl.ac.uk
RI Ecker, Christine/E-5194-2010
FU Health Foundation; MRC UK AIMS [G0400061]; Innovative Medicines
Initiative Joint Undertaking from the EU [115300]; Biomedical Research
Centre for Mental Health-CD Cluster-Developmental Disorders, National
Institute for Health Research (NIHR) at South London and Maudsley NHS
Foundation Trust and King's College London; Dr Mortimer and Theresa
Sackler Foundation; Autism Speaks
FX The Health Foundation and the MRC UK AIMS (G0400061) sponsored the
study. We would also like to acknowledge the EU-AIMS (supported by the
Innovative Medicines Initiative Joint Undertaking under grant agreement
no. 115300, which includes financial contributions from the EU Seventh
Framework Programme (FP7/2007-2013) the Biomedical Research Centre for
Mental Health-CD Cluster-Developmental Disorders, National Institute for
Health Research (NIHR) at South London and Maudsley NHS Foundation Trust
and King's College London, The Dr Mortimer and Theresa Sackler
Foundation and Autism Speaks.
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NR 63
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 SEP
PY 2014
VL 137
BP 2600
EP 2610
DI 10.1093/brain/awu178
PN 9
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AQ7LD
UT WOS:000342996000027
PM 25070512
ER
PT J
AU Berry, R
Firth, G
Leeming, C
Sharma, V
AF Berry, Ruth
Firth, Graham
Leeming, Catherine
Sharma, Vishal
TI Clinical Psychologists' Views of Intensive Interaction as an
Intervention in Learning Disability Services
SO CLINICAL PSYCHOLOGY & PSYCHOTHERAPY
LA English
DT Article
DE Intensive Interaction; Psychology; Therapeutic; Learning Disabilities;
Inclusion; Development
AB Intensive Interaction was initially developed in the 1980s as an educational approach for developing social communication and engagement with people with severe or profound intellectual disabilities and/or autism. Intensive Interaction has subsequently been adopted by a range of practitioners and professionals working in learning disability services and has a broad multi-disciplinary acceptance, being recommended in a number of UK governmental guidance documents. Despite this, there has been limited work on developing a deeper psychological understanding of the approach. This study utilises a qualitative description/thematic analysis approach to explore how clinical psychologists conceptualise the approach with regard to currently accepted psychological theories, as well as looking at other factors that influence their adoption and advocacy. The sample deliberately consisted of eight NHS (National Health Service) clinical psychologists known to be using or advocating the use of Intensive Interaction with people with a learning disability. The results of this study indicate that although the participants referred to some theories that might explain the beneficial outcomes of Intensive Interaction, these theories were rarely explicitly or clearly referenced, resulting in the authors having to attribute specific theoretical positions on the basis of inductive analysis of the participants' responses. Moreover, the participants provided varying views on how Intensive Interaction might be conceptualised, highlighting the lack of a generally accepted, psychologically framed definition of the approach. In conclusion, it was felt that further research is required to develop a specifically psychological understanding of Intensive Interaction alongside the formation of a Special Interest Group, which might have this task as one of its aims. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Berry, Ruth; Firth, Graham; Leeming, Catherine; Sharma, Vishal] St Marys Hosp, Leeds & York Partnership NHS Fdn Trust, Learning Disabil Psychol Serv, Leeds LS12 3QE, W Yorkshire, England.
RP Firth, G (reprint author), St Marys Hosp, Leeds & York Partnership NHS Fdn Trust, Learning Disabil Psychol Serv, Greenhill Rd, Leeds LS12 3QE, W Yorkshire, England.
EM graham.firth@nhs.net
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NR 33
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1063-3995
EI 1099-0879
J9 CLIN PSYCHOL PSYCHOT
JI Clin. Psychol. Psychother.
PD SEP-OCT
PY 2014
VL 21
IS 5
BP 403
EP 410
DI 10.1002/cpp.1846
PG 8
WC Psychology, Clinical
SC Psychology
GA AQ6DG
UT WOS:000342897900003
PM 23696471
ER
PT J
AU D'Alessandro, G
Cremonesi, I
Alkhamis, N
Piana, G
AF D'Alessandro, G.
Cremonesi, I.
Alkhamis, N.
Piana, G.
TI Correlation between oral health in disabled children and depressive
symptoms in their mothers
SO EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY
LA English
DT Article
DE Disabled children; Major depression risk; Mothers of disabled children;
Son/daughter oral health
ID POSTNATAL DEPRESSION; MATERNAL DEPRESSION; MENTAL-RETARDATION;
DENTAL-CARIES; AUTISM; PARENTS; STRESS; FAMILIES; SCALE; INTERVENTION
AB Aim The aim of this study was to evaluate the presence and degree of depressive symptoms in mothers of disabled children and to assess the correlation between maternal major depression risk and son/daughter oral health.
Materials and methods A prospective study was conducted in 51 disabled children and their 51 mothers. In children dmft/DMFT values, food and/or sugar-sweetened consumption levels and daily tooth brushing frequency were evaluated. Depressive maternal symptoms were Measured by EDPS questionnaire: the questionnaire scores were converted into positive predictive values (PPV) that represented the risk of falling into major depression. A regression analysis was performed on the variables (statical significance was set at p value <= 0.05).
Results Children (8.68 +/- 3.98 years old) average dmft/DMFT was 2.7 Fifty three percent of the mothers (38.37 +/- 6.04 years) were at risk for depression (PPV>60%), while depressive symptoms were already present in 25% of the subjects (PPV=100%).
Discussion and conclusion Mothers of disabled Children are more likely to fall into major depression compared to mothers of healthy children. For each mother-child couple the correlation between different variables was evaluated: there was a statistically significant Correlation between children's dmft/ DMFT values and mothers' depression risk. The risk of maternal depression was statistically correlated to prevalence of caries and sugar consumption in children.
C1 [D'Alessandro, G.; Cremonesi, I.; Alkhamis, N.; Piana, G.] Univ Bologna, Alma Mater Studiorum, Sch Dent, Dept Biomed & Neuromotor Sci DIBINEM,Dent Speci, Bologna, Italy.
RP D'Alessandro, G (reprint author), Univ Bologna, Alma Mater Studiorum, Sch Dent, Dept Biomed & Neuromotor Sci DIBINEM,Dent Speci, Bologna, Italy.
EM dr.dalessandro@gmail.com
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NR 35
TC 0
Z9 0
PU ARIESDUE SRL
PI CARIMATE
PA VIA AIROLDI, CARIMATE, 11-22060, ITALY
SN 1591-996X
EI 2035-648X
J9 EUR J PAEDIATR DENT
JI Eur. J. Paediatr. Dent.
PD SEP
PY 2014
VL 15
IS 3
BP 303
EP 308
PG 6
WC Dentistry, Oral Surgery & Medicine; Pediatrics
SC Dentistry, Oral Surgery & Medicine; Pediatrics
GA AQ5VI
UT WOS:000342876300010
PM 25306149
ER
PT J
AU Mielnik, CA
Horsfall, W
Ramsey, AJ
AF Mielnik, C. A.
Horsfall, W.
Ramsey, A. J.
TI Diazepam improves aspects of social behaviour and neuron activation in
NMDA receptor-deficient mice
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Antipsychotic; benzodiazepine; GABA; glutamate; neural substrate; NMDA;
social behaviour
ID VASOPRESSIN RECEPTOR; NEGATIVE SYMPTOMS; TASKS RELEVANT; GENETIC MODEL;
SCHIZOPHRENIA; EXPRESSION; AUTISM; HYPOFUNCTION; SOCIABILITY; AMYGDALA
AB NR1 knockdown (NR1KD) mice are genetically modified to express low levels of the NR1 subunit of N-methyl-d-aspartate (NMDA) receptors, and show deficits in affiliative social behaviour. In this study, we determined which brain regions were selectively activated in response to social stimulation and asked whether differences in neuronal activation could be observed in mice with reduced sociability. Furthermore, we aimed to determine whether brain activation patterns correlated with the amelioration of social deficits through pharmacological intervention. The cingulate cortex, lateral septal nuclei, hypothalamus, thalamus and amygdala showed an increase in c-Fos immunoreactivity that was selective for exposure to social stimuli. NR1KD mice displayed a reduction in social behaviour and a reduction in c-Fos immunoreactivity in the cingulate cortex and septal nuclei. Acute clozapine did not significantly alter sociability; however, diazepam treatment did increase sociability and neuronal activation in the lateral septal region. This study has identified the lateral septal region as a neural substrate of social behaviour and the GABA system as a potential therapeutic target for social dysfunction.
C1 [Mielnik, C. A.; Horsfall, W.; Ramsey, A. J.] Univ Toronto, Dept Pharmacol & Toxicol, Toronto, ON M5S 1A8, Canada.
RP Ramsey, AJ (reprint author), Univ Toronto, Dept Pharmacol & Toxicol, 1 Kings Coll Circle,Rm 4302,Med Sci Bldg, Toronto, ON M5S 1A8, Canada.
EM a.ramsey@utoronto.ca
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NR 35
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD SEP
PY 2014
VL 13
IS 7
BP 592
EP 602
DI 10.1111/gbb.12155
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AQ5CY
UT WOS:000342823600002
PM 25040071
ER
PT J
AU Wade, M
Hoffmann, TJ
Wigg, K
Jenkins, JM
AF Wade, M.
Hoffmann, T. J.
Wigg, K.
Jenkins, J. M.
TI Association between the oxytocin receptor (OXTR) gene and children's
social cognition at 18 months
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Child development; family-based association design; genetic association;
oxytocin receptor; social cognition; theory of mind
ID FAMILY-BASED ASSOCIATION; YOUNG-CHILDREN; HUMAN-BEHAVIOR; MIND; AUTISM;
HUMANS; VASOPRESSIN; BRAIN; POLYMORPHISMS; TEMPERAMENT
AB At 18 months, children engage in a variety of social behaviors that reflect their nascent ability to understand the intentions of other people (e.g. joint attention, empathy, cooperation and self-recognition). Although numerous contextual factors have been shown to predict social cognition in young children, the genetic underpinnings of social-cognitive traits has been understudied in this age group. Owing to the known effects of oxytocin on adult social cognition and psychopathology, this study hypothesized that variability in the oxytocin receptor gene (OXTR) would be associated with social cognition in children at 18 months. Participants consisted of 350 children (182 males; 168 females) who were part of an ongoing longitudinal study that aimed to assess environmental and genetic contributions to children's cognitive and socio-emotional functioning. At 18 months, social cognition was measured using previously validated and developmentally sensitive tasks assessing children's joint attention, empathy, cooperation and self-recognition. Five potentially functional OXTR variants were genotyped: rs1042778, rs2254298, rs11131149, rs237897 and rs237899. A family-based association design was used to control for population admixture and stratification, and additional non-genomic covariates were controlled. Results showed that variability in rs11131149 was significantly associated with social cognition (P=0.009), with more copies of the major allele related to higher social cognition, and more copies of the minor (risk) allele associated with lower social cognition. A haplotype consisting of rs11131149-rs2254298 was also associated with social cognition (P=0.020). Implications for normative and pathological development are discussed, and key areas for future research are proposed.
C1 [Wade, M.; Jenkins, J. M.] Univ Toronto, Dept Appl Psychol & Human Dev, Toronto, ON M5S 1V6, Canada.
[Hoffmann, T. J.] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA.
[Hoffmann, T. J.] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA.
[Wigg, K.] Toronto Western Res Inst, Genet & Dev Div, Toronto, ON, Canada.
RP Jenkins, JM (reprint author), Univ Toronto, Dept Appl Psychol & Human Dev, 252 Bloor St West, Toronto, ON M5S 1V6, Canada.
EM jenny.jenkins@utoronto.ca
FU Canadian Institutes of Health Research
FX We are grateful to the families who give so generously of their time, to
the Hamilton and Toronto Public Health Units for facilitating
recruitment of the sample, and to Mira Boskovic for project management.
The grant 'Transactional processes in emotional and behavioral
regulation: individuals in context' was awarded to Jennifer M. Jenkins
and Michael Boyle from the Canadian Institutes of Health Research and
covered data collection. The study team, beyond the current authors
includes: Cathy Barr, Kathy Georgiades, Greg Moran, Tom O'Connor, Michal
Perlman, Hildy Ross, Louis Schmidt. A special thank you goes to Cathy
Barr for her comments on earlier versions of this manuscript. The
authors have no conflicts of interest to declare.
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NR 62
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1601-1848
EI 1601-183X
J9 GENES BRAIN BEHAV
JI Genes Brain Behav.
PD SEP
PY 2014
VL 13
IS 7
BP 603
EP 610
DI 10.1111/gbb.12148
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AQ5CY
UT WOS:000342823600003
PM 24916666
ER
PT J
AU Radley, KC
Jenson, WR
Clark, E
Hood, JA
Nicholas, P
AF Radley, Keith C.
Jenson, William R.
Clark, Elaine
Hood, Julia A.
Nicholas, Peter
TI Using a Multimedia Social Skills Intervention to Increase Social
Engagement of Young Children With Autism Spectrum Disorder
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
DE social; skills; early intervention; intervention(s); autism;
disabilities; preschool; early childhood
ID METAANALYSIS; PROGRAMS
AB Children with autism spectrum disorder (ASD) display impairments in social interactions and communication that appear at early ages. Fewer social engagements of children with ASD with peers often lead to long-term negative outcomes, such as social isolation and restricted language and cognitive skills. Although there is a clear need for social skills training for children with ASD, evidence-based practices are often not implemented for young children in school settings. The authors describe the Superheroes Social Skills program, a social skills intervention that combines multiple evidence-based practices, for use with young children with ASD. A case example is provided to describe the implementation and utility of the program for addressing social engagement skills of children with ASD and peers. Results of the case example suggest that the intervention contributed to greater engagement of children with ASD with peers during a free-play period.
C1 [Radley, Keith C.] Univ So Mississippi, Hattiesburg, MS 39406 USA.
[Jenson, William R.; Clark, Elaine; Hood, Julia A.] Univ Utah, Salt Lake City, UT USA.
[Nicholas, Peter] Carmen B Pingree Ctr Children Autism, Salt Lake City, UT USA.
RP Radley, KC (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39406 USA.
EM keith.radley@usm.edu
CR Bellini S, 2007, REM SPEC EDUC, V28, P153, DOI 10.1177/07419325070280030401
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Zhang J, 2011, EDUC TRAIN AUTISM DE, V46, P62
NR 25
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1053-4512
EI 1538-4810
J9 INTERV SCH CLIN
JI Interv. Sch. Clin.
PD SEP
PY 2014
VL 50
IS 1
BP 22
EP 28
DI 10.1177/1053451214532350
PG 7
WC Education, Special
SC Education & Educational Research
GA AQ4TK
UT WOS:000342792400004
ER
PT J
AU Lillvis, DF
Kirkland, A
Frick, A
AF Lillvis, Denise F.
Kirkland, Anna
Frick, Anna
TI Power and Persuasion in the Vaccine Debates: An Analysis of Political
Efforts and Outcomes in the United States, 1998-2012
SO MILBANK QUARTERLY
LA English
DT Article
DE child; health legislation; United States; vaccination
ID SCHOOL IMMUNIZATION REQUIREMENTS; NONMEDICAL EXEMPTIONS; AUTISM;
POLICIES; CONTROVERSY; MERCURY
AB From 2011 to 2013, immunization proponents won significant legislative victories that tightened philosophical exemptions in Washington, Oregon, and California. Highlighting data on the high rates of unvaccinated children and subsequent, preventable infectious disease outbreaks has proven to be quite compelling to state lawmakers, especially when combined with physician expert testimony. Even vigorous protest from vaccine-critical organizations failed to defeat recent legislative wins when other political conditions were favorable. Our research suggests that immunization proponents have not been as active as they could be, and that much of the energy in pressing for new policies over the past 15 years has been on the vaccine-critical side of the aisle.
ContextThis article examines trends in state-level childhood vaccine policies in the United States from 1998 to 2012 and explains the trajectories for both vaccine-critical and proimmunization legislative efforts. Successful mobilization by vaccine critics during the height of the autism and thimerosal scares (roughly 1998 to 2003) yielded a few state-level expansions for the most permissive type of exemption from vaccine mandates for public school attendance, those based on personal beliefs. Vaccine-critical positions, however, have largely become discredited. How has vaccine critics' ability to advance preferred policies and prevent the passage of unfavorable legislation changed over time?
MethodsWe created a unique data set of childhood vaccine bills (n = 636), introduced from 1998 to 2012 across the 50 state legislatures, and coded them by type of effort (exemption, mandate, mercury ban, and information policies) and outcome. We then mapped out the trends in vaccine policies over time. In order to contextualize the trends we identified, we also reviewed numerous primary sources and conducted interviews with stakeholders.
FindingsIn general, we found that vaccine critics' legislative success has begun to wane. In only 20 bills in our data set were vaccine critics able to change policy in their preferred direction via the legislative process. Only 5 of those wins were significant (such as obtaining a new philosophical exemption to vaccine mandates), and the last of these was in 2007. Critics were more successful at preventing passage of proimmunization legislation, such as mandates for the human papillomavirus (HPV) vaccine.
ConclusionsRecent legislation in California, Oregon, and Washington that tightened philosophical exemptions by means of informational requirements suggests that vaccine politics may be entering another phase, one in which immunization supporters may be able to counter increasing opt-out rates, particularly in states with recent outbreaks and politicians favoring science-based policies.
C1 [Lillvis, Denise F.] Univ Michigan, Dept Hlth Management & Policy, Sch Publ Hlth, Ann Arbor, MI 48109 USA.
[Lillvis, Denise F.] Univ Michigan, Dept Polit Sci, Ann Arbor, MI 48109 USA.
[Lillvis, Denise F.; Frick, Anna] Univ Michigan, Sch Publ Hlth, Ann Arbor, MI 48109 USA.
RP Lillvis, DF (reprint author), Univ Michigan, Dept Hlth Management & Policy, Sch Publ Hlth, 1415 Washington Hts, Ann Arbor, MI 48109 USA.
EM dlillvis@umich.edu
CR Abiola SE, 2013, J HEALTH POLIT POLIC, V38, P645, DOI 10.1215/03616878-2208567
Adams M., 2012, NATURAL NEWS 1024
Advisory Commission on Childhood Vaccines (ACCV), 2002, 51 M ADV COMM CHILDH
American Academy of Pediatrics (AAP) and the United States Public Health Service (USPHS), 1999, PEDIATRICS, V104, P568
Baker JP, 2008, AM J PUBLIC HEALTH, V98, P244, DOI 10.2105/AJPH.2007.113159
Bernard S, 2001, MED HYPOTHESES, V56, P462, DOI 10.1054/mehy.2000.1281
Blank NR, 2013, HEALTH AFFAIR, V32, P1282, DOI 10.1377/hlthaff.2013.0239
Boushey G, WORKING PAPER
Colgrove J, 2010, NEW ENGL J MED, V363, P785, DOI 10.1056/NEJMsr1003547
Colgrove J., 2006, STATE IMMUNITY POLIT
Freed GL, 2010, PEDIATRICS, V125, P654, DOI 10.1542/peds.2009-1962
Heffter E., 2011, SEATTLE TIMES
Institute of Medicine, 2004, IMM SAF REV VACC AUT
Institute of Medicine, 2001, THIM CONT VACC NEUR
Kirkland A, 2012, SOC STUD SCI, V42, P237, DOI 10.1177/0306312711435832
Kirkland A, 2012, J HEALTH POLIT POLIC, V37, P69, DOI 10.1215/03616878-1496020
Krehbiel Keith, 1998, PIVOTAL POLITICS THE
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Richardson D., 2009, 2009 NAT VACC INF CT
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US Food and Drug Administration (FDA), THIM VACC
Vannice KS, 2011, PEDIATRICS, V127, pS120, DOI 10.1542/peds.2010-1722R
Wakefield AJ, 1998, LANCET, V351, P637, DOI 10.1016/S0140-6736(97)11096-0
NR 34
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0887-378X
EI 1468-0009
J9 MILBANK Q
JI Milbank Q.
PD SEP
PY 2014
VL 92
IS 3
BP 475
EP 508
DI 10.1111/1468-0009.12075
PG 34
WC Health Care Sciences & Services; Health Policy & Services
SC Health Care Sciences & Services
GA AQ4HS
UT WOS:000342755200012
PM 25199897
ER
PT J
AU Orosco, LA
Ross, AP
Cates, SL
Scott, SE
Wu, D
Sohn, J
Pleasure, D
Pleasure, SJ
Adamopoulos, IE
Zarbalis, KS
AF Orosco, Lori A.
Ross, Adam P.
Cates, Staci L.
Scott, Sean E.
Wu, Dennis
Sohn, Jiho
Pleasure, David
Pleasure, Samuel J.
Adamopoulos, Iannis E.
Zarbalis, Konstantinos S.
TI Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting
aspects of the autism pathology
SO NATURE COMMUNICATIONS
LA English
DT Article
ID DE-NOVO MUTATIONS; INTERMEDIATE PROGENITOR CELLS; FRAGILE-X-SYNDROME;
SPECTRUM DISORDERS; MESSENGER-RNAS; STEM-CELLS; DEVELOPING NEOCORTEX;
NERVOUS-SYSTEM; NEURON NUMBER; RADIAL GLIA
AB Autism spectrum disorders (ASDs) are complex and heterogeneous developmental disabilities affecting an ever-increasing number of children worldwide. The diverse manifestations and complex, largely genetic aetiology of ASDs pose a major challenge to the identification of unifying neuropathological features. Here we describe the neuro-developmental defects in mice that carry deleterious alleles of the Wdfy3 gene, recently recognized as causative in ASDs. Loss of Wdfy3 leads to a regionally enlarged cerebral cortex resembling early brain overgrowth described in many children on the autism spectrum. In addition, affected mouse mutants display migration defects of cortical projection neurons, a recognized cause of epilepsy, which is significantly comorbid with autism. Our analysis of affected mouse mutants defines an important role for Wdfy3 in regulating neural progenitor divisions and neural migration in the developing brain. Furthermore, Wdfy3 is essential for cerebral expansion and functional organization while its loss-of-function results in pathological changes characteristic of ASDs.
C1 [Orosco, Lori A.; Ross, Adam P.; Cates, Staci L.; Scott, Sean E.] Univ Calif Davis, Dept Pathol & Lab Med, Sacramento, CA 95817 USA.
[Orosco, Lori A.; Ross, Adam P.; Cates, Staci L.; Scott, Sean E.; Wu, Dennis; Sohn, Jiho; Pleasure, David; Adamopoulos, Iannis E.; Zarbalis, Konstantinos S.] Shriners Hosp Children, Inst Pediat Regenerat Med, Sacramento, CA 95817 USA.
[Wu, Dennis; Adamopoulos, Iannis E.] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Dept Internal Med, Davis, CA 95616 USA.
[Pleasure, David] Univ Calif Davis, Dept Neurol, Sacramento, CA 95817 USA.
[Pleasure, David] Univ Calif Davis, Dept Pediat, Sacramento, CA 95817 USA.
[Pleasure, Samuel J.] Univ Calif San Francisco, UCSF Inst Regenerat Med, Dept Neurol, Program Neurosci,Sandler Neurosci Ctr, San Francisco, CA 94158 USA.
[Pleasure, Samuel J.] Univ Calif San Francisco, UCSF Inst Regenerat Med, Dept Neurol, Sandler Neurosci Ctr,Program Dev & Stem Cell Biol, San Francisco, CA 94158 USA.
RP Zarbalis, KS (reprint author), Univ Calif Davis, Dept Pathol & Lab Med, Sacramento, CA 95817 USA.
EM kzarbalis@ucdavis.edu
FU Shriners Hospitals for Children, NICHD [R21HD67855]; Simons Foundation
[286567]; Nancy Lurie Marks Family Foundation; Shriners Hospital for
Children Postdoctoral Fellowship Grant; NIH [U01HG004085]; CSD
Consortium [U01HG004080]; KOMP Repository at UC Davis and CHORI
[U42RR024244]; SFARI [286567]
FX This study was funded by Shriners Hospitals for Children, NICHD
R21HD67855 to KSZ, the Simons Foundation with SFARI 286567 to KSZ, and
the Nancy Lurie Marks Family Foundation to KSZ as well as a Shriners
Hospital for Children Postdoctoral Fellowship Grant to LAO. We would
particularly like to thank Drs Matthew State and Michael Wigler for
helpful advice and sharing data with us before publication. We would
like to thank Drs Leah Krubitzer, Stephen Noctor and Veronica Martinez
Cerdeno for support and helpful discussions during the course of this
project as well as Katie Yerocostas and Danielle Brill-Lehn for
technical assistance. NIH grants to Velocigene at Regeneron Inc.
(U01HG004085) and the CSD Consortium (U01HG004080) funded the generation
of gene-targeted ES cells for 8,500 genes in the KOMP Program and
archived and distributed by the KOMP Repository at UC Davis and CHORI
(U42RR024244). For more information or to obtain KOMP products go to
www.komp.org or email service@komp.org.
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NR 70
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4692
DI 10.1038/ncomms5692
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ5HO
UT WOS:000342838800002
PM 25198012
ER
PT J
AU St Pourcain, B
Cents, RAM
Whitehouse, AJO
Haworth, CMA
Davis, OSP
O'Reilly, PF
Roulstone, S
Wren, Y
Ang, QW
Velders, FP
Evans, DM
Kemp, JP
Warrington, NM
Miller, L
Timpson, NJ
Ring, SM
Verhulst, FC
Hofman, A
Rivadeneira, F
Meaburn, EL
Price, TS
Dale, PS
Pillas, D
Yliherva, A
Rodriguez, A
Golding, J
Jaddoe, VWV
Jarvelin, MR
Plomin, R
Pennell, CE
Tiemeier, H
Smith, GD
AF St Pourcain, Beate
Cents, Rolieke A. M.
Whitehouse, Andrew J. O.
Haworth, Claire M. A.
Davis, Oliver S. P.
O'Reilly, Paul F.
Roulstone, Susan
Wren, Yvonne
Ang, Qi W.
Velders, Fleur P.
Evans, David M.
Kemp, John P.
Warrington, Nicole M.
Miller, Laura
Timpson, Nicholas J.
Ring, Susan M.
Verhulst, Frank C.
Hofman, Albert
Rivadeneira, Fernando
Meaburn, Emma L.
Price, Thomas S.
Dale, Philip S.
Pillas, Demetris
Yliherva, Anneli
Rodriguez, Alina
Golding, Jean
Jaddoe, Vincent W. V.
Jarvelin, Marjo-Riitta
Plomin, Robert
Pennell, Craig E.
Tiemeier, Henning
Smith, George Davey
TI Common variation near ROBO2 is associated with expressive vocabulary in
infancy
SO NATURE COMMUNICATIONS
LA English
DT Article
ID GENOME-WIDE ASSOCIATION; LANGUAGE-DEVELOPMENT SURVEY; AXON-GUIDANCE
RECEPTORS; GENE-EXPRESSION; MIDLINE; AUTISM; TOOL; CHROMOSOME-3;
ENHANCERS; GENOTYPES
AB Twin studies suggest that expressive vocabulary at similar to 24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the EArly Genetics and Lifecourse Epidemiology consortium, analysing an early (15-18 months, 'one-word stage', N-Total = 8,889) and a later (24-30 months, 'two-word stage', N-Total = 10,819) phase of language acquisition. For the early phase, one single-nucleotide polymorphism (rs7642482) at 3p12.3 near ROBO2, encoding a conserved axon-binding receptor, reaches the genome-wide significance level (P = 1.3 x 10(-8)) in the combined sample. This association links language-related common genetic variation in the general population to a potential autism susceptibility locus and a linkage region for dyslexia, speech-sound disorder and reading. The contribution of common genetic influences is, although modest, supported by genome-wide complex trait analysis (meta-GCTA h(5-18-months)(2) = 0.13, meta-GCTA h(24-30-months)(2) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(24-months)(2) = 0.20).
C1 [St Pourcain, Beate; Evans, David M.; Kemp, John P.; Timpson, Nicholas J.; Ring, Susan M.; Smith, George Davey] Univ Bristol, MRC, Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.
[St Pourcain, Beate] Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England.
[St Pourcain, Beate] Univ Bristol, Sch Expt Psychol, Bristol BS8 1TU, Avon, England.
[Cents, Rolieke A. M.; Velders, Fleur P.; Jaddoe, Vincent W. V.] Erasmus MC Univ, Med Ctr, Generat R Study Grp, NL-3000 CA Rotterdam, Netherlands.
[Cents, Rolieke A. M.; Velders, Fleur P.; Verhulst, Frank C.; Tiemeier, Henning] Erasmus MC Univ, Med Ctr, Dept Child & Adolescent Psychiat Psychol, NL-3000 CB Rotterdam, Netherlands.
[Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Kids Inst, Subiaco, WA 6008, Australia.
[Haworth, Claire M. A.] Univ Warwick, Dept Psychol, Coventry CV4 7AL, W Midlands, England.
[Haworth, Claire M. A.; Davis, Oliver S. P.; O'Reilly, Paul F.; Plomin, Robert] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, MRC, London SE5 8AF, England.
[Davis, Oliver S. P.] UCL, UCL Genet Inst, Dept Genet Evolut & Environm, London WC1E 6BT, England.
[O'Reilly, Paul F.; Pillas, Demetris; Rodriguez, Alina; Jarvelin, Marjo-Riitta] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Ctr Environm & Hlth, Dept Epidemiol & Biostat,MRC,Publ Hlth England, London W2 1PG, England.
[Roulstone, Susan; Wren, Yvonne] Univ W England, Frenchay Hosp, Bristol Speech & Language Therapy Res Unit, Bristol BS16 1LE, Avon, England.
[Ang, Qi W.; Warrington, Nicole M.; Pennell, Craig E.] Univ Western Australia, Sch Womens & Infants Hlth, Subiaco, WA 6008, Australia.
[Evans, David M.; Kemp, John P.; Miller, Laura; Timpson, Nicholas J.; Ring, Susan M.; Golding, Jean; Smith, George Davey] Univ Bristol, Sch Social & Community Med, Bristol BS8 2PS, Avon, England.
[Evans, David M.; Kemp, John P.; Warrington, Nicole M.] Univ Queensland, Translat Res Inst, Diamantina Inst, Woolloongabba, Qld 4102, Australia.
[Hofman, Albert; Rivadeneira, Fernando; Jaddoe, Vincent W. V.; Tiemeier, Henning] Erasmus MC Univ, Med Ctr, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands.
[Rivadeneira, Fernando] Erasmus MC Univ, Med Ctr, Dept Internal Med, NL-3000 CA Rotterdam, Netherlands.
[Meaburn, Emma L.] Univ London, Dept Psychol Sci, London WC1E 7HX, England.
[Price, Thomas S.] Univ Penn, Sch Med, Inst Translat Med & Therapeut, Philadelphia, PA 19104 USA.
[Dale, Philip S.] Univ New Mexico, Dept Speech & Hearing Sci, Albuquerque, NM 87131 USA.
[Yliherva, Anneli] Univ Oulu, Fac Humanities, Child Language Res Ctr, Oulu 90014, Finland.
[Rodriguez, Alina] Mid Sweden Univ, Dept Psychol, Mittuniv, S-83125 Ostersund, Sweden.
[Jaddoe, Vincent W. V.] Erasmus MC Univ, Med Ctr, Dept Pediat, NL-3000 CB Rotterdam, Netherlands.
[Jarvelin, Marjo-Riitta] Oulu Univ Hosp, Unit Primary Care, FI-90220 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Natl Inst Hlth & Welf, Dept Children & Young People & Families, FI-90101 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Univ Oulu, Inst Hlth Sci, FI-90014 Oulu, Finland.
[Jarvelin, Marjo-Riitta] Univ Oulu, Bioctr Oulu, FI-90014 Oulu, Finland.
RP St Pourcain, B (reprint author), Univ Bristol, MRC, Integrat Epidemiol Unit, Oakfield House,15-23 Oakfield Grove, Bristol BS8 2BN, Avon, England.
EM Beate.StPourcain@bristol.ac.uk
RI Price, Thomas/B-7372-2008; Dale, Philip/A-2254-2009; Warrington,
Nicole/P-4868-2014
OI Price, Thomas/0000-0001-7356-2109; Dale, Philip/0000-0002-7697-8510;
Warrington, Nicole/0000-0003-4195-775X
FU UK Medical Research Council; Wellcome Trust [092731]; Medical Research
Council Integrative Epidemiology Unit [MC_UU_12013/1-9]; Medical
Research Council New Investigator Award [MRCG0800582]; Autism Speaks
[7132]; Wellcome Trust 4-year PhD studentship [WT083431MA]; 23andMe
FX We are extremely grateful to all the families who took part in this
study, the midwives for their help in recruiting them and the whole
ALSPAC team, which includes interviewers, computer and laboratory
technicians, clerical workers, research scientists, volunteers,
managers, receptionists and nurses. The UK Medical Research Council and
the Wellcome Trust (Grant ref: 092731) and the University of Bristol
provide core support for ALSPAC. ALSPAC GWAS data were generated by the
Sample Logistics and Genotyping Facilities at the Wellcome Trust Sanger
Institute and LabCorp (Laboratory Corporation of America) using funding
from 23andMe. This work was also supported by the Medical Research
Council Integrative Epidemiology Unit (MC_UU_12013/1-9). D.M.E. is
supported by a Medical Research Council New Investigator Award
(MRCG0800582 to D.M.E.). J.P.K. is funded by a Wellcome Trust 4-year PhD
studentship (WT083431MA). B.S.P. is supported by an Autism Speaks grant
(7132). This publication is the work of the authors and they will serve
as guarantors for the contents of this paper.
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NR 66
TC 5
Z9 5
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4831
DI 10.1038/ncomms5831
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ6ND
UT WOS:000342929300002
PM 25226531
ER
PT J
AU Wang, CJ
Chung, BC
Yan, HD
Wang, HG
Lee, SY
Pitt, GS
AF Wang, Chaojian
Chung, Ben C.
Yan, Haidun
Wang, Hong-Gang
Lee, Seok-Yong
Pitt, Geoffrey S.
TI Structural analyses of Ca2+/CaM interaction with NaV channel C-termini
reveal mechanisms of calcium-dependent regulation
SO NATURE COMMUNICATIONS
LA English
DT Article
ID GATED SODIUM-CHANNEL; DE-NOVO MUTATIONS; INHERITED CARDIAC-ARRHYTHMIA;
FACTOR HOMOLOGOUS FACTORS; SOLUTION NMR STRUCTURE; EF-HAND DOMAIN;
CRYSTAL-STRUCTURE; NEURONAL EXCITABILITY; FAST INACTIVATION; BRUGADA
SYNDROME
AB Ca2+ regulates voltage-gated Na+ (Na-V) channels, and perturbed Ca2+ regulation of Na-V function is associated with epilepsy syndromes, autism and cardiac arrhythmias. Understanding the disease mechanisms, however, has been hindered by a lack of structural information and competing models for how Ca2+ affects Na-V channel function. Here we report the crystal structures of two ternary complexes of a human Na-V cytosolic C-terminal domain (CTD), a fibroblast growth factor homologous factor and Ca2+ /calmodulin (Ca2+ /CaM). These structures rule out direct binding of Ca2+ to the Na-V CTD and uncover new contacts between CaM and the Na-V CTD. Probing these new contacts with biochemical and functional experiments allows us to propose a mechanism by which Ca2+ could regulate Na-V channels. Further, our model provides hints towards understanding the molecular basis of the neurologic disorders and cardiac arrhythmias caused by Na-V channel mutations.
C1 [Wang, Chaojian; Chung, Ben C.; Yan, Haidun; Wang, Hong-Gang; Lee, Seok-Yong; Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Med, Ion Channel Res Unit, Durham, NC 27710 USA.
[Wang, Chaojian; Yan, Haidun; Wang, Hong-Gang; Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Med, Div Cardiol, Durham, NC 27710 USA.
[Chung, Ben C.; Lee, Seok-Yong] Duke Univ, Med Ctr, Dept Biochem, Durham, NC 27710 USA.
[Pitt, Geoffrey S.] Duke Univ, Med Ctr, Dept Pharmacol, Durham, NC 27710 USA.
RP Lee, SY (reprint author), Duke Univ, Med Ctr, Dept Med, Ion Channel Res Unit, 2 Genome Court, Durham, NC 27710 USA.
EM sylee@biochem.duke.edu; geoffrey.pitt@duke.edu
FU NHLBI [R01 HL71165, HL113136]; American Heart Association Established
Investigator Award; Duke University Medical Center; Basil O'Connor
Starter Scholar Research Award from the March of Dimes foundation
[5-FY10-473]; N.I.H. Director's New Innovator Award [1 DP2 OD008380-01]
FX Data for this study were collected at beam lines NE-CAT ID 24-C and
SER-CAT BM22/ID22 and at the Advanced Photon Source and the Duke X-ray
Crystallography Facility. We thank R. Brennan, M. Schumacher and P. Zhou
for providing access to their ITC machines; C. Pemble for help with
remote data collection. This work was supported by NHLBI R01 HL71165 and
HL113136 (G. S. P.) and American Heart Association Established
Investigator Award (G. S. P.); start-up funds from the Duke University
Medical Center (S.-Y.L.), the Basil O'Connor Starter Scholar Research
Award 5-FY10-473 from the March of Dimes foundation (S.-Y.L.), the
N.I.H. Director's New Innovator Award 1 DP2 OD008380-01 (S.-Y.L.).
S.-Y.L. is a McKnight Scholar, Klingenstein fellow, Alfred P. Sloan
Research fellow, Mallinckrodt Scholar and Whitehead Scholar.
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NR 62
TC 0
Z9 0
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 2041-1723
J9 NAT COMMUN
JI Nat. Commun.
PD SEP
PY 2014
VL 5
AR 4896
DI 10.1038/ncomms5896
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AQ7HP
UT WOS:000342983700003
PM 25232683
ER
PT J
AU Godman, M
Nagatsu, M
Salmela, M
AF Godman, Marion
Nagatsu, Michiru
Salmela, Mikko
TI The Social Motivation Hypothesis for Prosocial Behavior
SO PHILOSOPHY OF THE SOCIAL SCIENCES
LA English
DT Article
DE social motivation; pro-social behavior; fellow-feeling; social norms;
team reasoning
ID INTERPERSONAL SYNCHRONY; YOUNG-CHILDREN; JOINT ACTION; COOPERATION;
IMITATION; AUTISM; EXPECTATIONS; ATTACHMENTS; AFFILIATION; PERCEPTION
AB Existing economic models of prosociality have been rather silent in terms of proximate psychological mechanisms. We nevertheless identify the psychologically most informed accounts and offer a critical discussion of their hypotheses for the proximate psychological explanations. Based on convergent evidence from several fields of research, we argue that there nevertheless is a more plausible alternative proximate account available: the social motivation hypothesis. The hypothesis represents a more basic explanation of the appeal of prosocial behavior, which is in terms of anticipated social rewards. We also argue in favor of our own social motivation hypothesis over Robert Sugden's fellow-feeling account (due originally to Adam Smith). We suggest that social motivation not only stands as a proximate account in its own right but also provides a plausible scaffold for other more sophisticated motivations (e.g., fellow-feelings). We conclude by discussing some possible implications of the social motivation hypothesis on existing modeling practice.
C1 [Godman, Marion] Univ Helsinki, Acad Finland Ctr Excellence Philosophy Social Sci, FIN-00014 Helsinki, Finland.
[Nagatsu, Michiru] Univ Helsinki, TINT, FIN-00014 Helsinki, Finland.
[Salmela, Mikko] Univ Helsinki, FIN-00014 Helsinki, Finland.
[Godman, Marion] Univ Cambridge, Hist & Philosophy Sci Dept, Cambridge, England.
RP Nagatsu, M (reprint author), Univ Helsinki, Dept Polit & Econ Studies, PL 24 Unioninkatu 40, FIN-00014 Helsinki, Finland.
EM michiru.nagatsu@helsinki.fi
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NR 67
TC 0
Z9 0
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0048-3931
EI 1552-7441
J9 PHILOS SOC SCI
JI Philos. Soc. Sci.
PD SEP
PY 2014
VL 44
IS 5
SI SI
BP 563
EP 587
DI 10.1177/0048393114530841
PG 25
WC Ethics; Philosophy
SC Social Sciences - Other Topics; Philosophy
GA AQ4VJ
UT WOS:000342797900001
ER
PT J
AU Avet-Rochex, A
Carvajal, N
Christoforou, CP
Yeung, K
Maierbrugger, KT
Hobbs, C
Lalli, G
Cagin, U
Plachot, C
McNeill, H
Bateman, JM
AF Avet-Rochex, Amelie
Carvajal, Nancy
Christoforou, Christina P.
Yeung, Kelvin
Maierbrugger, Katja T.
Hobbs, Carl
Lalli, Giovanna
Cagin, Umut
Plachot, Cedric
McNeill, Helen
Bateman, Joseph M.
TI Unkempt Is Negatively Regulated by mTOR and Uncouples Neuronal
Differentiation from Growth Control
SO PLOS GENETICS
LA English
DT Article
ID TUBEROUS SCLEROSIS COMPLEX; DROSOPHILA-MELANOGASTER; SIGNALING PATHWAY;
CELL-GROWTH; MAMMALIAN TARGET; INSULIN RECEPTOR/TARGET; OLFACTORY
MICRONODULES; FINGER PROTEIN; RAPAMYCIN; NEUROGENESIS
AB Neuronal differentiation is exquisitely controlled both spatially and temporally during nervous system development. Defects in the spatiotemporal control of neurogenesis cause incorrect formation of neural networks and lead to neurological disorders such as epilepsy and autism. The mTOR kinase integrates signals from mitogens, nutrients and energy levels to regulate growth, autophagy and metabolism. We previously identified the insulin receptor (InR)/mTOR pathway as a critical regulator of the timing of neuronal differentiation in the Drosophila melanogaster eye. Subsequently, this pathway has been shown to play a conserved role in regulating neurogenesis in vertebrates. However, the factors that mediate the neurogenic role of this pathway are completely unknown. To identify downstream effectors of the InR/mTOR pathway we screened transcriptional targets of mTOR for neuronal differentiation phenotypes in photoreceptor neurons. We identified the conserved gene unkempt (unk), which encodes a zinc finger/RING domain containing protein, as a negative regulator of the timing of photoreceptor differentiation. Loss of unk phenocopies InR/mTOR pathway activation and unk acts downstream of this pathway to regulate neurogenesis. In contrast to InR/mTOR signalling, unk does not regulate growth. unk therefore uncouples the role of the InR/mTOR pathway in neurogenesis from its role in growth control. We also identified the gene headcase (hdc) as a second downstream regulator of the InR/mTOR pathway controlling the timing of neurogenesis. Unk forms a complex with Hdc, and Hdc expression is regulated by unk and InR/mTOR signalling. Co-overexpression of unk and hdc completely suppresses the precocious neuronal differentiation phenotype caused by loss of Tsc1. Thus, Unk and Hdc are the first neurogenic components of the InR/mTOR pathway to be identified. Finally, we show that Unkempt-like is expressed in the developing mouse retina and in neural stem/progenitor cells, suggesting that the role of Unk in neurogenesis may be conserved in mammals.
C1 [Avet-Rochex, Amelie; Carvajal, Nancy; Christoforou, Christina P.; Maierbrugger, Katja T.; Hobbs, Carl; Lalli, Giovanna; Cagin, Umut; Bateman, Joseph M.] Kings Coll London, Wolfson Ctr Age Related Dis, London, England.
[Yeung, Kelvin; Plachot, Cedric; McNeill, Helen] Lunenfeld Tanenbaum Res Ctr, Toronto, ON, Canada.
RP Avet-Rochex, A (reprint author), Univ Lyon 1, CNRS, Ctr Genet & Physiol Mol & Cellulaire, UMR 5534, F-69622 Villeurbanne, France.
EM joseph_matthew.bateman@kcl.ac.uk
RI McNeill, Helen/E-4579-2013
OI McNeill, Helen/0000-0003-1126-5154
FU King's College London; Wellcome Trust [WT088460MA, WT089622MA]; Canadian
Institutes of Health Research [FRN 102656, 97933]
FX The work was funded by King's College London, The Wellcome Trust
(WT088460MA and WT089622MA, http://www.wellcome.ac.uk/) and the Canadian
Institutes of Health Research (FRN 102656 and 97933,
http://www.cihr-irsc.gc.ca/e/193.html). The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 52
TC 1
Z9 1
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 SEP
PY 2014
VL 10
IS 9
AR e1004624
DI 10.1371/journal.pgen.1004624
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ7OY
UT WOS:000343009600042
PM 25210733
ER
PT J
AU Leblond, CS
Nava, C
Polge, A
Gauthier, J
Huguet, G
Lumbroso, S
Giuliano, F
Stordeur, C
Depienne, C
Mouzaf, K
Pinto, D
Howe, J
Lemiere, N
Durand, CM
Guibert, J
Ey, E
Toro, R
Peyre, H
Mathieu, A
Amsellem, F
Rastam, M
Gillberg, IC
Rappold, GA
Holt, R
Monaco, AP
Maestrini, E
Galan, P
Heron, D
Jacquette, A
Afenjar, A
Rastetter, A
Brice, A
Devillard, F
Assouline, B
Laffargue, F
Lespinasse, J
Chiesa, J
Rivier, F
Bonneau, D
Regnault, B
Zelenika, D
Delepine, M
Lathrop, M
Sanlaville, D
Schluth-Bolard, C
Edery, P
Perrin, L
Tabet, AC
Schmeisser, MJ
Boeckers, TM
Coleman, M
Sato, D
Szatmari, P
Scherer, SW
Rouleau, GA
Betancur, C
Leboyer, M
Gillberg, C
Delorme, R
Bourgeron, T
AF Leblond, Claire S.
Nava, Caroline
Polge, Anne
Gauthier, Julie
Huguet, Guillaume
Lumbroso, Serge
Giuliano, Fabienne
Stordeur, Coline
Depienne, Christel
Mouzaf, Kevin
Pinto, Dalila
Howe, Jennifer
Lemiere, Nathalie
Durand, Christelle M.
Guibert, Jessica
Ey, Elodie
Toro, Roberto
Peyre, Hugo
Mathieu, Alexandre
Amsellem, Frederique
Rastam, Maria
Gillberg, I. Carina
Rappold, Gudrun A.
Holt, Richard
Monaco, Anthony P.
Maestrini, Elena
Galan, Pilar
Heron, Delphine
Jacquette, Aurelia
Afenjar, Alexandra
Rastetter, Agnes
Brice, Alexis
Devillard, Francoise
Assouline, Brigitte
Laffargue, Fanny
Lespinasse, James
Chiesa, Jean
Rivier, Francois
Bonneau, Dominique
Regnault, Beatrice
Zelenika, Diana
Delepine, Marc
Lathrop, Mark
Sanlaville, Damien
Schluth-Bolard, Caroline
Edery, Patrick
Perrin, Laurence
Tabet, Anne Claude
Schmeisser, Michael J.
Boeckers, Tobias M.
Coleman, Mary
Sato, Daisuke
Szatmari, Peter
Scherer, Stephen W.
Rouleau, Guy A.
Betancur, Catalina
Leboyer, Marion
Gillberg, Christopher
Delorme, Richard
Bourgeron, Thomas
TI Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A
Gradient of Severity in Cognitive Impairments
SO PLOS GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; SCAFFOLDING PROTEIN SHANK3;
22Q13 DELETION SYNDROME; SYNAPTIC-TRANSMISSION; DIAGNOSTIC INTERVIEW;
MUTANT MICE; GENE; BEHAVIORS; REARRANGEMENTS
AB SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in similar to 1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
C1 [Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Amsellem, Frederique; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France.
[Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Delorme, Richard; Bourgeron, Thomas] Inst Pasteur, CNRS UMR Genes Synapses & Cognit 3571, Paris, France.
[Leblond, Claire S.; Huguet, Guillaume; Stordeur, Coline; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Mathieu, Alexandre; Delorme, Richard; Bourgeron, Thomas] Univ Paris Diderot, Sorbonne Paris Cite, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis] Hop La Pitie Salpetriere, INSERM CRICM U975, Inst Cerveau & Moelle Epiniere ICM, CNRS CRICM 7225, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis; Betancur, Catalina] Univ Paris 06, Univ Paris 04, Paris, France.
[Nava, Caroline; Depienne, Christel; Rastetter, Agnes; Brice, Alexis] UMR S 975, Paris, France.
[Polge, Anne; Lumbroso, Serge; Mouzaf, Kevin] CHU Nimes, Biochim Lab, Nimes, France.
[Gauthier, Julie] CHU St Justine, Mol Diagnost Lab, Montreal, PQ, Canada.
[Gauthier, Julie] CHU St Justine, Div Med Genet, Montreal, PQ, Canada.
[Giuliano, Fabienne] Nice Teaching Hosp, Dept Med Genet, Nice, France.
[Stordeur, Coline; Amsellem, Frederique; Delorme, Richard] Robert Debre Hosp, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Psychiat, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Genet, New York, NY 10029 USA.
[Pinto, Dalila] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr, Dept Genom Sci, New York, NY 10029 USA.
[Howe, Jennifer; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W.] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada.
[Howe, Jennifer; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W.] Univ Toronto, McLaughlin Ctr, Toronto, ON M5G 1X8, Canada.
[Peyre, Hugo] Ecole Normale Super, CNRS, EHESS, Lab Sci Cognit & Psycholinguist, Paris, France.
[Amsellem, Frederique; Leboyer, Marion; Delorme, Richard; Bourgeron, Thomas] FondaMental Fdn, Creteil, France.
[Rastam, Maria] Lund Univ, Dept Clin Sci Lund, Lund, Sweden.
[Gillberg, I. Carina; Gillberg, Christopher] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
[Rappold, Gudrun A.] Heidelberg Univ, Dept Human Mol Genet, Heidelberg, Germany.
[Holt, Richard; Monaco, Anthony P.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.
[Maestrini, Elena] Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy.
[Galan, Pilar] Univ Paris 13, Nutrit Epidemiol Res Unit, INSERM U557, INRA U1125,CNAM,CRNH IdF, Bobigny, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Genet Clin, Paris, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] Ctr Reference Deficiences Intellectuelles Causes, Paris, France.
[Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra] UPMC, Grp Rech Clin Deficience Intellectuelle & Autisme, Paris, France.
[Heron, Delphine; Afenjar, Alexandra] Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France.
[Devillard, Francoise] Hop Couple Enfant, Dept Genet & Procreat, Grenoble, France.
[Assouline, Brigitte] Ctr Ressources Autisme Rhone Alpes, CADIPA, St Egreve, France.
[Laffargue, Fanny] Ctr Hosp Univ Estaing, Serv Genet Med, Clermont Ferrand, France.
[Lespinasse, James] Ctr Hosp Chambery, Hotel Dieu, UF Genet Chromosom, Chambery, France.
[Chiesa, Jean] Hop Caremeau, UF Cytogenet & Genet Med, Nimes, France.
[Rivier, Francois] CHRU Montpellier, Neuropediat CR Malad Neuromusculaires, Montpellier, France.
[Rivier, Francois] Univ Montpellier 1 & 2, INSERM, U1046, Montpellier, France.
[Bonneau, Dominique] LUNAM Univ, INSERM U1083, Angers, France.
[Bonneau, Dominique] CNRS UMR 6214, Angers, France.
[Bonneau, Dominique] Ctr Hosp Univ, Dept Biochim & Genet, Angers, France.
[Regnault, Beatrice] Inst Pasteur, Genopole, Paris, France.
[Zelenika, Diana; Delepine, Marc; Lathrop, Mark] Ctr Natl Genotypage, Evry, France.
[Sanlaville, Damien; Schluth-Bolard, Caroline; Edery, Patrick] Univ Lyon 1, Hosp Civils Lyon, CHU Lyon,INSERM U1028, Dept Genet,Ctr Rech Neurosci Lyon,CNRS UMR 5292, Bron, France.
[Perrin, Laurence; Tabet, Anne Claude] Hop Robert Debre, AP HP, Dept Genet, Cytogenet Unit, F-75019 Paris, France.
[Schmeisser, Michael J.; Boeckers, Tobias M.] Univ Ulm, Inst Anat & Cell Biol, D-89069 Ulm, Germany.
[Coleman, Mary] Fdn Autism Res, Sarasota, FL USA.
[Rouleau, Guy A.] McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada.
[Betancur, Catalina] INSERM U1130, Paris, France.
[Betancur, Catalina] CNRS UMR 8246, Paris, France.
[Leboyer, Marion] INSERM U955, Creteil, France.
[Leboyer, Marion] Univ Paris Est, Fac Med, Creteil, France.
[Leboyer, Marion] Hop Univ Henri Mondor, AP HP, DHU PePSY, Pole Psychiat & Addictol, Creteil, France.
[Gillberg, Christopher] UCL, Inst Child Hlth, London, England.
RP Leblond, CS (reprint author), Inst Pasteur, Human Genet & Cognit Funct Unit, Paris, France.
EM thomasb@pasteur.fr
RI Scherer, Stephen /B-3785-2013; sanlaville, damien/M-4716-2014; Monaco,
Anthony/A-4495-2010
OI Scherer, Stephen /0000-0002-8326-1999; sanlaville,
damien/0000-0001-9939-2849; Monaco, Anthony/0000-0001-7480-3197
FU Institut Pasteur; CNRS; INSERM; AP-HP; University Paris Diderot;
Bettencourt-Schueller foundation; Orange foundation; FondaMental
foundation; Conny-Maeva foundation; Cognacq-Jay foundation; ANR
[ANR-08-MNPS-037-01 - SynGen]; Neuron-ERANET (EUHF-AUTISM); DFG
[BO1718/3-1, 4-1]; Baustein [L.SBN.0081]
FX This work was funded by the Institut Pasteur, CNRS, INSERM, AP-HP,
University Paris Diderot, the Bettencourt-Schueller foundation, the
Orange foundation, the FondaMental foundation, the Conny-Maeva
foundation, the Cognacq-Jay foundation, the ANR (ANR-08-MNPS-037-01 -
SynGen), Neuron-ERANET (EUHF-AUTISM), the DFG (BO1718/3-1, 4-1) and
Baustein L.SBN.0081. 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 57
TC 6
Z9 7
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 SEP
PY 2014
VL 10
IS 9
AR e1004580
DI 10.1371/journal.pgen.1004580
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ7OY
UT WOS:000343009600013
PM 25188300
ER
PT J
AU Smarandache, F
Vladutescu, S
AF Smarandache, Florentin
Vladutescu, Stefan
TI Towards a Practical Communication Intervention
SO REVISTA DE CERCETARE SI INTERVENTIE SOCIALA
LA English
DT Article
DE communication; communication research; social intervention;
communicational intervention; Practical Communication Intervention (PCI)
ID CHILDREN; AUTISM; MODEL
AB The study starts from evidence that several communication acts fail, but nobody is called to intervene and nobody thinks of intervening. Examining different branches (specialties) of the communication discipline and focusing on four possible practices, by comparison, differentiation, collating and corroboration, the current study brings arguments for a branch of the communication discipline that has as unique practical aim the communicational intervention, the practical, direct and strict application of communication research. Communication, as discipline, must create an instrument of intervention. The discipline which studies communication globally (General Communication Science) has developed a strong component of theoretical and practical research of communication phenomena (Applied Communication Research), and within a niche theory (Grounded Practical Theory Robert T. Craig & Karen Tracy, 1995) took incidentally into account the direct, practical application of communication research. We propose Practical Communication Intervention, as speciality of communication as an academic discipline. Practical Communication Intervention must be a field specialty in the universe of communication.
C1 [Smarandache, Florentin] Univ New Mexico, Dept Math, Gallup, NM 87301 USA.
[Vladutescu, Stefan] Univ Craiova, Fac Letters, Dept Journalism & Commun, Craiova, Romania.
RP Smarandache, F (reprint author), Univ New Mexico, Dept Math, Gallup, NM 87301 USA.
EM fsmarandache@gmail.com; stefan.vladutescu@yahoo.com
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NR 33
TC 0
Z9 0
PU EDITURA LUMEN, IASI
PI IASI
PA HOLT ROMANIA FCSSCF FILIALA, IASI STR BISTRITA, NR 7, BL B13, PARTER, AP
3, IASI, 00000, ROMANIA
SN 1583-3410
EI 1584-5397
J9 REV CERCET INTERV SO
JI Rev. Cercet. Interv. Soc.
PD SEP
PY 2014
VL 46
BP 243
EP 254
PG 12
WC Social Work; Sociology
SC Social Work; Sociology
GA AQ3YK
UT WOS:000342729200018
ER
PT J
AU Maras, KL
Mulcahy, S
Memon, A
Picariello, F
Bowler, DM
AF Maras, Katie L.
Mulcahy, Sue
Memon, Amina
Picariello, Federica
Bowler, Dermot M.
TI Evaluating the Effectiveness of the Self-Administered Interview c for
Witnesses with Autism Spectrum Disorder
SO APPLIED COGNITIVE PSYCHOLOGY
LA English
DT Article
ID IMPAIRED MEMORY FUNCTIONS; HIGH-FUNCTIONING CHILDREN; SPATIAL
WORKING-MEMORY; COGNITIVE INTERVIEW; ASPERGERS-SYNDROME; EYEWITNESS
MEMORY; FREE-RECALL; ADULTS; PERCEPTION; ADOLESCENTS
AB The widely used evidence-based police interviewing technique, the Cognitive Interview, is not effective for witnesses with autism spectrum disorder (ASD). The present study examined whether a modification of the Cognitive Interview that removes the social element, the Self-Administered Interview((c)), is more useful in facilitating recall by ASD witnesses. One of the main components of the Cognitive Interview is context reinstatement, where the witness follows verbal instructions from the interviewer to mentally recreate the personal and physical context that they experienced during the event. The present findings showed that this procedure is not effective for witnesses with ASD in SAI format in which the social component of its administration is removed. However, the SAI sketch plan component did elicit more correct details from the ASD group, although to a lesser degree than for the comparison group. Theoretical and practical implications of the findings are discussed. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [Maras, Katie L.] Univ Bath, Bath BA2 7AY, Avon, England.
[Mulcahy, Sue] Univ Liverpool, Liverpool L69 3BX, Merseyside, England.
[Memon, Amina; Picariello, Federica] Univ London, Egham, Surrey, England.
[Bowler, Dermot M.] City Univ London, London EC1V 0HB, England.
RP Maras, KL (reprint author), Univ Bath, Bath BA2 7AY, Avon, England.
EM K.L.Maras@bath.ac.uk
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NR 51
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0888-4080
EI 1099-0720
J9 APPL COGNITIVE PSYCH
JI Appl. Cogn. Psychol.
PD SEP-OCT
PY 2014
VL 28
IS 5
BP 693
EP 701
DI 10.1002/acp.3055
PG 9
WC Psychology, Experimental
SC Psychology
GA AQ3ED
UT WOS:000342671200009
ER
PT J
AU Eyre-Walker, A
Eyre-Walker, YC
AF Eyre-Walker, Adam
Eyre-Walker, Ying Chen
TI How Much of the Variation in the Mutation Rate Along the Human Genome
Can Be Explained?
SO G3-GENES GENOMES GENETICS
LA English
DT Article
DE de novo mutation; human mutation; cryptic variation; mutation rate
variation; mutation rate
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; SEQUENCE; PATTERNS
AB It has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 143121442]. We show that this claim is unwarranted. By considering the correlation between the rate of de novo mutation and the predictions from the model of Michaelson et al., we show there could be substantial unexplained variance in the mutation rate. We investigate whether the model of Michaelson et al. captures variation at the single nucleotide level that is not due to simple context. We show that the model captures a substantial fraction of this variation at CpG dinucleotides but fails to explain much of the variation at non-CpG sites.
C1 [Eyre-Walker, Adam; Eyre-Walker, Ying Chen] Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England.
RP Eyre-Walker, A (reprint author), Univ Sussex, Sch Biol Sci, Brighton BN1 9QG, E Sussex, England.
EM a.c.eyre-walker@sussex.ac.uk
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NR 19
TC 0
Z9 0
PU GENETICS SOCIETY AMERICA
PI BETHESDA
PA 9650 ROCKVILLE AVE, BETHESDA, MD 20814 USA
SN 2160-1836
J9 G3-GENES GENOM GENET
JI G3-Genes Genomes Genet.
PD SEP 1
PY 2014
VL 4
IS 9
BP 1667
EP 1670
DI 10.1534/g3.114.012849
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA AQ1VE
UT WOS:000342570600011
PM 24996580
ER
PT J
AU Butean, I
Costescu, C
Dobrean, A
AF Butean, Iulia
Costescu, Cristina
Dobrean, Anca
TI DIFFERENCES BETWEEN EMPATHIC RESPONSES IN CHILDREN WITH AUTISM SPECTRUM
DISORDER AND TYPICALLY DEVELOPING CHILDREN
SO JOURNAL OF EVIDENCE-BASED PSYCHOTHERAPIES
LA English
DT Article
DE empathic responses; autism spectrum disorder; prosocial behaviors
ID BEHAVIOR; EMOTION; TEMPERAMENT; DISTRESS; OTHERS; ADULTS
AB Previous studies show that empathy deficits are considered an important barrier for the social development of children diagnosed with autism spectrum disorder (ASD). This study compares the empathic responses between a group of children with ASD and a group of typically developing (TD) children. We included 63 children, out of which 26 had a diagnosis of ASD. We used an empathy task which simulated leg pain and an observational grid to assess four dimensions of empathy: affective responding, behavior activation, verbal empathic initiations and prosocial behaviors. The results showed that children with ASD had a lower performance at the affective responding and behavior activation dimensions, as compared with TD children, but there were no differences between the two groups in verbal empathic initiations and prosocial behaviors.
C1 [Butean, Iulia; Costescu, Cristina; Dobrean, Anca] Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, R-3400 Cluj Napoca, Romania.
RP Costescu, C (reprint author), Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, R-3400 Cluj Napoca, Romania.
EM popcristina.anamaria@yahoo.com
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NR 33
TC 0
Z9 0
PU INT INST ADVANCED STUDIES PSYCHOTHERAPY & APPLIED MENTAL HEALTH
PI CLUJ
PA NO 37 , REPUBLICII STR, CLUJ-NAPOCA, CLUJ, 00000, ROMANIA
SN 2360-0853
J9 J EVID-BASED PSYCHOT
JI J. Evid-Based Psychother.
PD SEP
PY 2014
VL 14
IS 2
BP 197
EP 209
PG 13
WC Psychology, Clinical
SC Psychology
GA AQ1KP
UT WOS:000342540600009
ER
PT J
AU Vandeweyer, G
Helsmoortel, C
Van Dijck, A
Vulto-van Silfhout, AT
Coe, BP
Bernier, R
Gerdts, J
Rooms, L
van den Ende, J
Bakshi, M
Wilson, M
Nordgren, A
Hendon, LG
Abdulrahman, OA
Romano, C
De Vries, BBA
Kleefstra, T
Eichler, EE
Van der Aa, N
Kooy, RF
AF Vandeweyer, Geert
Helsmoortel, Celine
Van Dijck, Anke
Vulto-van Silfhout, Anneke T.
Coe, Bradley P.
Bernier, Raphael
Gerdts, Jennifer
Rooms, Liesbeth
van den Ende, Jenneke
Bakshi, Madhura
Wilson, Meredith
Nordgren, Ann
Hendon, Laura G.
Abdulrahman, Omar A.
Romano, Corrado
de Vries, Bert B. A.
Kleefstra, Tjitske
Eichler, Evan E.
Van der Aa, Nathalie
Kooy, R. Frank
TI The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes
With Autism
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Article
DE autism; SWI; SNF; BAF complexes; ADNP
ID DEPENDENT NEUROPROTECTIVE PROTEIN; DE-NOVO MUTATIONS; CHROMATIN
REMODELING COMPLEX; COFFIN-SIRIS SYNDROME; SPECTRUM DISORDERS;
INTELLECTUAL DISABILITY; NEURAL DEVELOPMENT; PEPTIDE; NAP; GENETICS
AB Mutations in ADNP were recently identified as a frequent cause of syndromic autism, characterized by deficits in social communication and interaction and restricted, repetitive behavioral patterns. Based on its functional domains, ADNP is a presumed transcription factor. The gene interacts closely with the SWI/SNF complex by direct and experimentally verified binding of its C-terminus to three of its core components. A detailed and systematic clinical assessment of the symptoms observed in our patients allows a detailed comparison with the symptoms observed in other SWI/SNF disorders. While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is predicted haploinsufficient. The latter observation may raise hope for therapy, as addition of NAP, a neuroprotective octapeptide named after the first three amino acids of the sequence NAPVSPIQ, has been reported by others to ameliorate some of the cognitive abnormalities observed in a knockout mouse model. It is concluded that detailed clinical and molecular studies on larger cohorts of patients are necessary to establish a better insight in the genotype phenotype correlation and in the mutational mechanism. (c) 2014 Wiley Periodicals, Inc.
C1 [Vandeweyer, Geert; Helsmoortel, Celine; Van Dijck, Anke; van den Ende, Jenneke; Van der Aa, Nathalie; Kooy, R. Frank] Univ Antwerp, Dept Med Genet, B-2650 Edegem, Belgium.
[Van Dijck, Anke; van den Ende, Jenneke; Van der Aa, Nathalie] Univ Antwerp Hosp, B-2650 Edegem, Belgium.
[Vulto-van Silfhout, Anneke T.] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.
[Coe, Bradley P.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Bernier, Raphael; Gerdts, Jennifer] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Rooms, Liesbeth] Univ Antwerp Hosp, Dept Med Genet, B-2650 Edegem, Belgium.
[Nordgren, Ann] Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, S-10401 Stockholm, Sweden.
[Hendon, Laura G.; Abdulrahman, Omar A.] Univ Mississippi, Med Ctr Jackson, University, MS 38677 USA.
[Romano, Corrado] IRCCS Assoc Oasi Maria Santissima, Troina, Italy.
[de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav Dept, NL-6525 ED Nijmegen, Netherlands.
[de Vries, Bert B. A.; Kleefstra, Tjitske] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands.
[Eichler, Evan E.] Univ Washington, Seattle, WA 98195 USA.
RP Van der Aa, N (reprint author), Univ Antwerp, Dept Med Genet, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.
EM Nathalie.VanderAa@uza.be; Frank.Kooy@uantwerpen.be
RI Romano, Corrado/B-9695-2008
OI Romano, Corrado/0000-0003-1049-0683
FU Dutch Organization for Health Research and Development [917-86-319,
40-00812-98-12109, 907-00-365]; EU [EU-7th-2010-241995]; Simons
Foundation Autism Research Initiative award [SFARI191889EE]; NIH
[MH101221]
FX Grant sponsor: Dutch Organization for Health Research and Development;
Grant number: 917-86-319, 40-00812-98-12109, 907-00-365; Grant sponsor:
EU; Grant number: EU-7th-2010-241995; Grant sponsor: Simons Foundation
Autism Research Initiative award; Grant number: SFARI191889EE; Grant
sponsor: NIH; Grant number: MH101221.
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NR 55
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
EI 1552-4876
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD SEP
PY 2014
VL 166
IS 3
SI SI
BP 315
EP 326
DI 10.1002/ajmg.c.31413
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8QG
UT WOS:000342343200008
PM 25169753
ER
PT J
AU Son, EY
Crabtree, GR
AF Son, Esther Y.
Crabtree, Gerald R.
TI The Role of BAF (mSWI/SNF) Complexes in Mammalian Neural Development
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
LA English
DT Article
DE BAF; mammalian SWI; SNF; chromatin remodeling; neural development;
microRNA; intellectual disability; Coffin-Siris syndrome;
Nicolaides-Baraitser syndrome; autism; schizophrenia
ID CHROMATIN-REMODELING COMPLEX; EMBRYONIC STEM-CELLS; PUTATIVE PHEROMONE
RECEPTORS; COFFIN-SIRIS SYNDROME; DE-NOVO MUTATIONS;
NICOLAIDES-BARAITSER SYNDROME; DOUBLE-POSITIVE THYMOCYTES; TARGET GENE
ACTIVATION; CAUSE WEAVER SYNDROME; SWI/SNF COMPLEXES
AB The BAF (mammalian SWI/SNF) complexes are a family of multi-subunit ATP-dependent chromatin remodelers that use ATP hydrolysis to alter chromatin structure. Distinct BAF complex compositions are possible through combinatorial assembly of homologous subunit families and can serve non-redundant functions. In mammalian neural development, developmental stage-specific BAF assemblies are found in embryonic stem cells, neural progenitors and postmitotic neurons. In particular, the neural progenitor-specific BAF complexes are essential for controlling the kinetics and mode of neural progenitor cell division, while neuronal BAF function is necessary for the maturation of postmitotic neuronal phenotypes as well as long-term memory formation. The microRNA-mediated mechanism for transitioning from npBAF to nBAF complexes is instructive for the neuronal fate and can even convert fibroblasts into neurons. The high frequency of BAF subunit mutations in neurological disorders underscores the rate-determining role of BAF complexes in neural development, homeostasis, and plasticity. (c) 2014 Wiley Periodicals, Inc.
C1 [Son, Esther Y.] Stanford Univ, Dept Pathol, Stanford, CA 94305 USA.
[Crabtree, Gerald R.] Stanford Univ, Stanford, CA 94305 USA.
RP Crabtree, GR (reprint author), Stanford Univ, Sch Med, Dept Pathol, Beckman Ctr B211, 279 Campus Dr, Stanford, CA 94305 USA.
EM crabtree@stanford.edu
FU National Institutes of Health; Howard Hughes Medical Institute
FX Grant sponsor: National Institutes of Health and the Howard Hughes
Medical Institute.
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NR 178
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4868
EI 1552-4876
J9 AM J MED GENET C
JI Am. J. Med. Genet. C
PD SEP
PY 2014
VL 166
IS 3
SI SI
BP 333
EP 349
DI 10.1002/ajmg.c.31416
PG 17
WC Genetics & Heredity
SC Genetics & Heredity
GA AP8QG
UT WOS:000342343200010
PM 25195934
ER
PT J
AU Allen, JL
Liu, XF
Pelkowski, S
Palmer, B
Conrad, K
Oberdorster, G
Weston, D
Mayer-Proschel, M
Cory-Slechta, DA
AF Allen, Joshua L.
Liu, Xiufang
Pelkowski, Sean
Palmer, Brian
Conrad, Katherine
Oberdoerster, Guenter
Weston, Douglas
Mayer-Proschel, Margot
Cory-Slechta, Deborah A.
TI Early Postnatal Exposure to Ultrafine Particulate Matter Air Pollution:
Persistent Ventriculomegaly, Neurochemical Disruption, and Glial
Activation Preferentially in Male Mice
SO ENVIRONMENTAL HEALTH PERSPECTIVES
LA English
DT Article
ID DEVELOPMENTAL EXPOSURE; SPECTRUM DISORDER; ISCHEMIC-STROKE; LOS-ANGELES;
IN-UTERO; SCHIZOPHRENIA; BRAIN; AUTISM; ENLARGEMENT; STRESS
AB BACKGROUND: Air pollution has been associated with adverse neuro-logical and behavioral health effects in children and adults. Recent studies link air pollutant exposure to adverse neuro-developmental outcomes, including increased risk for autism, cognitive decline, ischemic stroke, schizophrenia, and depression.
OBJECTIVES: We sought to investigate the mechanism(s) by which exposure to ultrafine concentrated ambient particles (CAPs) adversely influences central nervous system (CNS) development.
METHODS: We exposed C57BL6/J mice to ultrafine (< 100 nm) CAPs using the Harvard University Concentrated Ambient Particle System or to filtered air on postnatal days (PNDs) 4-7 and 10-13, and the animals were euthanized either 24 hr or 40 days after cessation of exposure. Another group of males was exposed at PND270, and lateral ventricle area, glial activation, CNS cytokines, and monoamine and amino acid neurotransmitters were quantified.
RESULTS: We observed ventriculomegaly (i.e., lateral ventricle dilation) preferentially in male mice exposed to CAPs, and it persisted through young adulthood. In addition, CAPs-exposed males generally showed decreases in developmentally important CNS cytokines, whereas in CAPs-exposed females, we observed a neuroinflammatory response as indicated by increases in CNS cytokines. We also saw changes in CNS neurotransmitters and glial activation across multiple brain regions in a sex-dependent manner and increased hippocampal glutamate in CAPs-exposed males.
CONCLUSIONS: We observed brain region-and sex-dependent alterations in cytokines and neurotransmitters in both male and female CAPs-exposed mice. Lateral ventricle dilation (i.e., ventriculomegaly) was observed only in CAPs-exposed male mice. Ventriculomegaly is a neuro-pathology that has been associated with poor neuro-developmental outcome, autism, and schizophrenia. Our findings suggest alteration of developmentally important neurochemicals and lateral ventricle dilation may be mechanistically related to observations linking ambient air pollutant exposure and adverse neuro-logical/neuro-developmental outcomes in humans.
C1 [Allen, Joshua L.; Liu, Xiufang; Pelkowski, Sean; Palmer, Brian; Conrad, Katherine; Oberdoerster, Guenter; Weston, Douglas; Cory-Slechta, Deborah A.] Univ Rochester, Sch Med, Dept Environm Med, Rochester, NY USA.
[Mayer-Proschel, Margot] Univ Rochester, Sch Med, Dept Biochem Genet, Rochester, NY USA.
RP Cory-Slechta, DA (reprint author), 601 Elmwood Ave,Box EHSC Room 2-6810, Rochester, NY 14642 USA.
EM deborah_cory-slechta@urmc.rochester.edu
FU National Institute of Environmental Health Sciences [ES019105, ES019852,
ES001247, T32 ES007026]
FX This work was supported by National Institute of Environmental Health
Sciences grants ES019105 and ES019852 (D.A.C.-S.), ES001247 (G.O.,
M.M-P., and D.A.C.-S.), and T32 ES007026 (J.L.A. and B.P.).
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NR 62
TC 3
Z9 3
PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE
PI RES TRIANGLE PK
PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233,
RES TRIANGLE PK, NC 27709-2233 USA
SN 0091-6765
EI 1552-9924
J9 ENVIRON HEALTH PERSP
JI Environ. Health Perspect.
PD SEP
PY 2014
VL 122
IS 9
BP 939
EP 945
DI 10.1289/ehp.1307984
PG 7
WC Environmental Sciences; Public, Environmental & Occupational Health;
Toxicology
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health; Toxicology
GA AO9XT
UT WOS:000341714600022
PM 24901756
ER
PT J
AU Geier, DA
Hooker, BS
Kern, JK
King, PG
Sykes, LK
Geier, MR
AF Geier, David A.
Hooker, Brian S.
Kern, Janet K.
King, Paul G.
Sykes, Lisa K.
Geier, Mark R.
TI A Dose-Response Relationship between Organic Mercury Exposure from
Thimerosal-Containing Vaccines and Neurodevelopmental Disorders
SO INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
LA English
DT Article
DE attention deficit; autism; ethylmercury; merthiolate; thiomersal
ID HEPATITIS-B VACCINATION; EVENT REPORTING SYSTEM; SAFETY DATALINK;
INFANTS; AUTISM; METHYLMERCURY; ETHYLMERCURY; ASSOCIATION; THIOMERSAL;
DATABASES
AB A hypothesis testing case-control study evaluated concerns about the toxic effects of organic-mercury (Hg) exposure from thimerosal-containing (49.55% Hg by weight) vaccines on the risk of neurodevelopmental disorders (NDs). Automated medical records were examined to identify cases and controls enrolled from their date-of-birth (1991-2000) in the Vaccine Safety Datalink (VSD) project. ND cases were diagnosed with pervasive developmental disorder (PDD), specific developmental delay, tic disorder or hyperkinetic syndrome of childhood. In addition, putative non-thimerosal-related outcomes of febrile seizure, failure to thrive and cerebral degenerations were examined. The cumulative total dose of Hg exposure from thimerosal-containing hepatitis B vaccine (T-HBV) administered within the first six months of life was calculated. On a per microgram of organic-Hg basis, PDD (odds ratio (OR) = 1.054), specific developmental delay (OR = 1.035), tic disorder (OR = 1.034) and hyperkinetic syndrome of childhood (OR = 1.05) cases were significantly more likely than controls to receive increased organic-Hg exposure. By contrast, none of the non-thimerosal related outcomes were significantly more likely than the controls to have received increased organic-Hg exposure. Routine childhood vaccination may be an important public health tool to reduce infectious disease-associated morbidity/mortality, but the present study significantly associates organic-Hg exposure from T-HBV with an increased risk of an ND diagnosis.
C1 [Geier, David A.; Kern, Janet K.; Geier, Mark R.] Inst Chron Illnesses Inc, Silver Spring, MD 20905 USA.
[Hooker, Brian S.] Simpson Univ, Dept Biol, Redding, CA 96003 USA.
[Kern, Janet K.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[King, Paul G.; Sykes, Lisa K.] CoMeD Inc, Silver Spring, MD 20905 USA.
RP Geier, MR (reprint author), Inst Chron Illnesses Inc, 14 Redgate Ct, Silver Spring, MD 20905 USA.
EM davidallengeier@comcast.net; bhooker@simpsonu.edu; jkern@dfwair.net;
paulgkingphd@gmail.com; syklone5@verizon.net; mgeier@comcast.net
FU Institute of Chronic Illnesses, Inc.; CoMeD, Inc.; Seltz Foundation;
Dwoskin Family Foundation
FX This study was supported by the non-profit Institute of Chronic
Illnesses, Inc., and the non-profit CoMeD, Inc. This study was also
supported the Seltz Foundation and the Dwoskin Family Foundation, but
they were not involved in the design and conducting of the study, in the
collection analysis, in the interpretation of the data, in the
preparation, in the review nor in the approval of the manuscript.
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NR 35
TC 2
Z9 2
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 SEP
PY 2014
VL 11
IS 9
BP 9156
EP 9170
DI 10.3390/ijerph110909156
PG 15
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AP4DN
UT WOS:000342027500033
PM 25198681
ER
PT J
AU Rauf, NK
Anis-ul-Haq
Aslam, N
Anjum, U
AF Rauf, Nelofar Kiran
Anis-ul-Haq
Aslam, Naeem
Anjum, Uzma
TI Characteristic Symptoms and Adaptive Behaviors of Children with Autism
SO JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
LA English
DT Article
DE Autism; Adaptive behaviors; Characteristic symptoms; Autism spectrum
disorder; Special education
ID HIGHER FUNCTIONING INDIVIDUALS; SPECTRUM DISORDERS; ALTERNATIVE
COMMUNICATION; PARENTING STRESS; DISABILITIES; ABILITIES; TODDLERS;
LANGUAGE
AB Objective: To determine the characteristic symptoms and adaptive behaviors of children with autism, as well as the distribution of autism severity groups across gender.
Study Design: Cross-sectional observational study.
Place and Duration of Study: Special Education Schools of Rawalpindi and Islamabad, from September 2011 to January 2012.
Methodology: Thirty nine children of either gender, aged 3 - 16 years and enrolled in special education schools, fulfilled the DSM-IV-TR criteria of autism. Among those, were identified as meeting the criteria of autism. The childhood autism rating scale-2 (CARS-2) was used to study the characteristics and severity of symptoms of autism. Later, adaptive behavior scale (school edition: 2) ABS-S: 2, was administered on children (n=21) to formulate the level of adaptive functioning.
Results: There were 15 boys and 8 girls with mean age of 10.6 +/- 2.97 years. They showed marked impairment in verbal communication (mean=3.17 +/- 0.90) followed by relating to people (mean=2.75 +/- 0.83) and general impression (mean=2.73 +/- 0.7). Most of the children showed average to below average adaptive behaviors on number and time (n=19, 90.5%), independent functioning (n=17, 81.0%), self direction (n=17, 81.0%), physical development (n=13, 61.9%), responsibility (n=12, 57.1%) and socialization (n=13, 61.9%) as well as poor to very poor adaptive behaviors on pre-vocational skill (n=15, 71.4%), language development (n=13, 61.9%) and economic development (n=13, 61.9%). The frequency of boys with autism was more towards moderate to severely impaired spectrum, without gender differences in any symptom associated with autism.
Conclusion: Comprehension of the presentation of characteristic symptoms of children with autism will be helpful in devising the indigenous intervention plans that are congruent with the level of adaptive functioning.
C1 [Rauf, Nelofar Kiran; Anis-ul-Haq; Aslam, Naeem] Quaid I Azam Univ, Ctr Excellence, Natl Inst Psychol, Islamabad, Pakistan.
[Anjum, Uzma] Natl Univ Modern Languages, Fac Adv Integrated Studies & Res, Islamabad, Pakistan.
RP Rauf, NK (reprint author), House 172,St 3b, Judicial Colony, Rawalpindi, Pakistan.
EM nelofar@nip.edu.pk
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NR 23
TC 0
Z9 0
PU COLL PHYSICIANS & SURGEONS PAKISTAN
PI KARACHI
PA SEVENTH CENTRAL ST, DEFENCE HOUSING AUTHORITY, KARACHI, 75500, PAKISTAN
SN 1022-386X
EI 1681-7168
J9 JCPSP-J COLL PHYSICI
JI JCPSP-J. Coll. Physicians Surg.
PD SEP
PY 2014
VL 24
IS 9
BP 658
EP 662
PG 5
WC Medicine, General & Internal
SC General & Internal Medicine
GA AP8NY
UT WOS:000342336900012
PM 25233971
ER
PT J
AU Damiano, CR
Mazefsky, CA
White, SW
Dichter, GS
AF Damiano, Cara R.
Mazefsky, Carla A.
White, Susan W.
Dichter, Gabriel S.
TI Future Directions for Research in Autism Spectrum Disorders
SO JOURNAL OF CLINICAL CHILD AND ADOLESCENT PSYCHOLOGY
LA English
DT Article
ID ECOLOGICAL MOMENTARY ASSESSMENT; HIGH-FUNCTIONING AUTISM; PERVASIVE
DEVELOPMENTAL DISORDERS; DRUG DEVELOPMENT; YOUNG-CHILDREN; MOUSE MODELS;
PSYCHOSOCIAL INTERVENTIONS; TROPHOBLAST INCLUSIONS; BEHAVIORAL-GENETICS;
TRAINING-PROGRAM
AB This article suggests future directions for research aimed at improving our understanding of the etiology and pathophysiology of autism spectrum disorder (ASD) as well as pharmacologic and psychosocial interventions for ASD across the lifespan. The past few years have witnessed unprecedented transformations in the understanding of ASD neurobiology, genetics, early identification, and early intervention. However, recent increases in ASD prevalence estimates highlight the urgent need for continued efforts to translate novel ASD discoveries into effective interventions for all individuals with ASD. In this article we highlight promising areas for ongoing and new research expected to quicken the pace of scientific discovery and ultimately the translation of research findings into accessible and empirically supported interventions for those with ASD. We highlight emerging research in the following domains as particularly promising and pressing: (a) preclinical models, (b) experimental therapeutics, (c) early identification and intervention, (d) psychiatric comorbidities and the Research Domain Criteria initiative, (e) ecological momentary assessment, (f) neurotechnologies, and (g) the needs of adults with ASD. Increased research emphasis in these areas has the potential to hasten the translation of knowledge on the etiological mechanisms of ASD to psychosocial and biological interventions to reduce the burden of ASD on affected individuals and their families.
C1 [Damiano, Cara R.; Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, Chapel Hill, NC 27599 USA.
[Damiano, Cara R.; Dichter, Gabriel S.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Mazefsky, Carla A.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15260 USA.
[White, Susan W.] Virginia Polytech Inst & State Univ, Dept Psychol, Blacksburg, VA 24061 USA.
[Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
RP Dichter, GS (reprint author), Univ N Carolina, CB 7255, Chapel Hill, NC 27599 USA.
EM g.dichter@gmail.com
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White S. W., 2014, J CLIN CHILD ADOLESC
White SW, 2013, J AUTISM DEV DISORD, V43, P382, DOI 10.1007/s10803-012-1577-x
Wolff JJ, 2012, AM J PSYCHIAT, V169, P589, DOI 10.1176/appi.ajp.2011.11091447
Young GS, 2009, DEVELOPMENTAL SCI, V12, P798, DOI 10.1111/j.1467-7687.2009.00833.x
Zikopoulos B, 2010, J NEUROSCI, V30, P14595, DOI 10.1523/JNEUROSCI.2257-10.2010
NR 176
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1537-4416
EI 1537-4424
J9 J CLIN CHILD ADOLESC
JI J. Clin. Child Adolesc. Psychol.
PD SEP-OCT
PY 2014
VL 43
IS 5
BP 828
EP 843
DI 10.1080/15374416.2014.945214
PG 16
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AP6TV
UT WOS:000342211600011
PM 25216048
ER
PT J
AU Johnson, NL
Bekhet, A
Robinson, K
Rodriguez, D
AF Johnson, Norah L.
Bekhet, Abir
Robinson, Karen
Rodriguez, Dana
TI Attributed Meanings and Strategies to Prevent Challenging Behaviors of
Hospitalized Children With Autism: Two Perspectives
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Autism; challenging behaviors; focus groups
AB Introduction: Understanding is limited of the meaning attributed to behaviors of children with autism spectrum disorder and strategies used to prevent challenging behaviors in the context of hospitalization.
Methods: This qualitative study consisted of two focus groups (n = 10; five mothers and five health care providers [HCPs]). Transcripts were analyzed using the qualitative method of narrative inquiry.
Results: The meaning attributed to behaviors by the mothers and the HCPs differed. The mothers attributed behaviors to the child's communication of frustration, hyperactivity, and self-calming. The HCPs attributed challenging behaviors to self-stimulation and child aggression. Strategies to prevent behaviors also differed. Mothers focused on preparation prior to hospitalization and attempts to partner with HCPs. HCPs identified fewer strategies and consulted mothers for strategies to manage challenging behaviors.
Discussion: HCP and parent collaboration could lead to strategies to increase supports for children with autism spectrum disorder in the hospital to decrease their frustration and challenging behaviors.
C1 [Johnson, Norah L.; Bekhet, Abir; Robinson, Karen; Rodriguez, Dana] Marquette Univ, Coll Nursing, Milwaukee, WI 53201 USA.
RP Johnson, NL (reprint author), Marquette Univ, Coll Nursing, Clark Hall 325,POB 1881, Milwaukee, WI 53201 USA.
EM norah.johnson@marquette.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bultas MW, 2012, J PEDIATR NURS, V27, P460, DOI 10.1016/j.pedn.2011.05.005
Carbone PS, 2010, J AUTISM DEV DISORD, V40, P317, DOI 10.1007/s10803-009-0874-5
CDC, 2012, MMWR SURVEILL SUMM, V61, P1
Gray C., 2010, NEW SOCIAL STORY BOO
Holloway I., 2007, NARRATIVE RES NURSIN
Kohler-Riessman C., 2008, NARRATIVE METHODS HU
Levy SE, 2010, J DEV BEHAV PEDIATR, V31, P267, DOI 10.1097/DBP.0b013e3181d5d03b
Lowe K, 2007, J INTELL DISABIL RES, V51, P625, DOI 10.1111/j.1365-2788.2006.00948.x
Lubisch N, 2009, PEDIATR NEUROL, V41, P88, DOI 10.1016/j.pediatrneurol.2009.02.006
Scarpinato N, 2010, J SPEC PEDIATR NURS, V15, P244, DOI 10.1111/j.1744-6155.2010.00244.x
Searcy E, 2001, JAAPA, V14, P39
Souders Margaret C, 2002, Pediatr Nurs, V28, P555
NR 13
TC 0
Z9 0
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 SEP-OCT
PY 2014
VL 28
IS 5
BP 386
EP 393
DI 10.1016/j.pedhc.2013.10.001
PG 8
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA AP8SQ
UT WOS:000342349600005
PM 24239062
ER
PT J
AU Thompson, DG
Tielsch-Goddard, A
AF Thompson, Debbie Gearner
Tielsch-Goddard, Anna
TI Improving Management of Patients With Autism Spectrum Disorder Having
Scheduled Surgery: Optimizing Practice
SO JOURNAL OF PEDIATRIC HEALTH CARE
LA English
DT Article
DE Autism; autistic spectrum disorders; presurgical assessment; quality
improvement; pediatric; perioperative process
ID CHILDREN; INTERVENTION; DIAGNOSIS; CARE
AB Introduction: Surgical preparation for children with autism spectrum disorders can be a challenge to perioperative staff because of the unique individual needs and behaviors in this population. Most children with autism function best in predictable, routine environments, and being in the hospital and other health care settings can create a stressful situation. This prospective, descriptive, quality improvement project was conducted to optimize best practices for perioperative staff and better individualize the plan of care for the autistic child and his or her family.
Methods: Forty-three patients with a diagnosis of autism or autistic spectrum disorder were seen over 6 months at a suburban pediatric hospital affiliated with a major urban pediatric hospital and had an upcoming scheduled surgery or procedure requiring anesthesia. Caregivers were interviewed before and after surgery to collect information to better help their child cope with their hospital visit.
Results: In an evaluation of project outcomes, data were tabulated and summarized and interview data were qualitatively coded for emerging themes to improve the perioperative process for the child.
Discussion: Findings showed that staff members were able to recognize potential and actual stressors and help identify individual needs of surgical patients with autism. The families were pleased and appreciative of the individual attention and focus on their child's special needs. Investigators also found increased staff interest in optimizing the surgical experience for autistic children.
C1 [Thompson, Debbie Gearner; Tielsch-Goddard, Anna] Childrens Med Ctr Legacy, Perioperat Serv, Plano, TX 75024 USA.
RP Thompson, DG (reprint author), Childrens Med Ctr Legacy, Perioperat Serv, 7601 Preston Rd, Plano, TX 75024 USA.
EM debbie.thompson@childrens.com
CR Autism Speaks, 2013, ATN AIR P VIS SUPP A
Autism Speaks, 2013, VIS AIDS AUT SPECTR
Bryson SE, 2003, CAN J PSYCHIAT, V48, P506
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Geraghty M., 2010, ICAN INFANT CHILD AD, V1, P62
Golnik A., 2010, CONT PEDIAT
Hudson J., 2006, PRESCRIPTION SUCCESS
Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361
Lohr WD, 2013, PEDIATR ANN, V42, P161, DOI 10.3928/00904481-20130326-12
Nelson Diane, 2009, AORN J, V89, P391, DOI 10.1016/j.aorn.2009.01.018
Pinto-Martin JA, 2008, J DEV BEHAV PEDIATR, V29, P345, DOI 10.1097/DBP.0b013e31818914cf
Rankin S. C., 2009, ANESTHESIA AUTISTIC
Richdale AL, 1999, DEV MED CHILD NEUROL, V41, P60, DOI 10.1017/S0012162299000122
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Van der Walt JH, 2001, PAEDIATR ANAESTH, V11, P401, DOI 10.1046/j.1460-9592.2001.00688.x
NR 19
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 SEP-OCT
PY 2014
VL 28
IS 5
BP 394
EP 403
DI 10.1016/j.pedhc.2013.09.007
PG 10
WC Health Policy & Services; Nursing; Pediatrics
SC Health Care Sciences & Services; Nursing; Pediatrics
GA AP8SQ
UT WOS:000342349600006
PM 24287372
ER
PT J
AU Mizen, CS
AF Mizen, C. S.
TI Narcissistic disorder and the failure of symbolisation: A Relational
Affective Hypothesis
SO MEDICAL HYPOTHESES
LA English
DT Article
ID BORDERLINE PERSONALITY-DISORDER; EMOTIONAL AWARENESS; ALEXITHYMIA;
AUTISM; ASYMMETRY; CORTEX; SLEEP; LIMBS; FEEL; SELF
AB The psychoanalytic concept of narcissistic disorder is broader than that of Narcissistic Personality Disorder (DSM-5 [1]), underlying a range of Personality Disorders (PD) and their co-morbidities. Existing Mentalisation, Psychoanalytic and Cognitive models, fail to account fully for the emerging evidence of biological, developmental, relational and defensive contributions to narcissistic disorder, nor do they account for the common and variant features of co-morbidities namely Anorexia Nervosa, Somatisation, Substance Misuse and Autistic Spectrum Disorder. Alexithymia and concrete modes of relating are common findings in narcissistic disorder and these co-morbid conditions. Current models do not provide a comprehensive account, on the basis of neuro-scientific and developmental evidence, of how affective feelings come to be represented in words and the association between narcissistic disorders and failures of symbolisation. In this paper I propose an empirically based Relational Affective Hypothesis that narcissistic disorder and its comorbidities represent failures at specific points on a representational function pathway through which subcortical affect and visceral feeling in a relational context become the basis for abstraction and language. The elucidation of this pathway allows investigation of the contribution of biological, social and psychogenic factors in narcissistic disorders. It also brings a new understanding of the neurological underpinning of psychodynamic defences in narcissistic disorders. Research and novel treatment implications are briefly considered. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Mizen, C. S.] Univ Exeter, Sch Psychol, Exeter EX2 5AF, Devon, England.
[Mizen, C. S.] Devon Partnership NHS Trust, Wonford House Hosp, Exeter EX2 5AF, Devon, England.
RP Mizen, CS (reprint author), Univ Exeter, Sch Psychol, Dryden Rd, Exeter EX2 5AF, Devon, England.
EM susanmizen@nhs.net
CR American Psychiatric Association, 2013, DSM 5
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Yovell Y, DOUBLE BLIND S UNPUB
NR 64
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 SEP
PY 2014
VL 83
IS 3
BP 254
EP 262
DI 10.1016/j.mehy.2014.05.012
PG 9
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000003
PM 24986704
ER
PT J
AU Kuhn, M
Bransfield, R
AF Kuhn, Mason
Bransfield, Robert
TI Divergent opinions of proper Lyme disease diagnosis and implications for
children co-morbid with autism spectrum disorder
SO MEDICAL HYPOTHESES
LA English
DT Article
ID BORRELIA-BURGDORFERI; SERODIAGNOSIS; ANTIBODIES; IMMUNOBLOT; CRITERIA;
PCR
AB This paper proposes that some children with an autism spectrum disorder (ASD) in the United States have undiagnosed Lyme disease and different testing criteria used by commercial laboratories may be producing false negative results. Two testing protocols will be evaluated; first, the Centers for Disease Control (CDC) and Infectious Disease Society of America (IDSA) approved two-tiered Enzyme Immunoassay (EIA) or Immunofluorescence Assay (IFA) followed by an IgM and/or IgG Western Blot test. Second, a clinical diagnosis (flu like symptoms, joint pain, fatigue, neurological symptoms, etc.) possibly followed by a Western Blot with a broader criteria for positive bands [1]. The hypothesis proposes that the former criteria may be producing false negative results for some individuals diagnosed with an ASD. Through an online survey parents of 48 children who have a diagnosis of an ASD and have been diagnosed with Lyme disease were asked to fill out the Autism Treatment Evaluation Checklist (ATEC) before they started antibiotic therapy and after treatment. Of the 48 parents surveyed 45 of them (94%) indicated their child initially tested negative using the two-tiered CDC/IDSA approved test. The parents sought a second physician who diagnosed their child with Lyme disease using the wider range of Western Blot bands. The children were treated with antibiotics and their scores on the ATEC improved. Anecdotal data indicated that some of the children achieved previously unattained developmental milestones after antibiotic therapy began. Protein bands OSP-A and/or OSP-B (Western Blot band 31) and (Western Blot band 34) were found in 44 of 48 patients. These two bands are so specific to Borrelia burgdorferi that they were targeted for use in vaccine trials, yet are not included in the IDSA interpretation of the Western Blot. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kuhn, Mason] Univ No Iowa, Dept Curriculum & Instruct, Cedar Falls, IA 50614 USA.
[Bransfield, Robert] Robert Wood Johnson Univ Med & Dent, Sch Med, Camden, NJ 08103 USA.
RP Kuhn, M (reprint author), Univ No Iowa, Dept Curriculum & Instruct, 1227 W 27th St, Cedar Falls, IA 50614 USA.
EM MasonKuhn@hotmail.com; bransfield@comcast.net
CR Ajamian M, 2013, JAMA-J AM MED ASSOC, V309, P1771, DOI 10.1001/jama.2013.618
Autism Research Institute, 2013, EV AUT EV TREATM CHE
Autism Speaks, 2013, AUT SPEAKS SCI ANSW
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Centers for disease Control, 2013, AUTISM
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NR 27
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 SEP
PY 2014
VL 83
IS 3
BP 321
EP 325
DI 10.1016/j.mehy.2014.06.005
PG 5
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000018
PM 24986703
ER
PT J
AU Oberman, LM
Pascual-Leone, A
AF Oberman, Lindsay M.
Pascual-Leone, Alvaro
TI Hyperplasticity in Autism Spectrum Disorder confers protection from
Alzheimer's disease
SO MEDICAL HYPOTHESES
LA English
DT Article
ID CORTICAL PLASTICITY; STIMULATION; MODEL; GENETICS; CORTEX
AB Autism Spectrum Disorders (ASD) currently affects approximately 1% of the population causing grave disability and necessitating a better understanding of the currently enigmatic etiology of these disorders. Recent data suggest that some patients with ASD may have a dysfunction in brain plasticity (specifically data from animal models and human studies suggest a propensity toward excessive amount of plasticity). Plasticity is essential to the establishment and maintenance of brain circuitry; however, too much plasticity may lead to instability of structural connections and compromise of functional systems necessary for cognition and behavior. Multiple lines of evidence suggest that plasticity declines throughout the age-span and may underlie age-related cognitive decline. We hypothesize that individuals whose cortex begins as relatively "hyperplastic" (such as may be seen in ASD) should then be relatively protected from age-related cognitive decline (which we suggest is related to a reduction in plasticity). In the current study, we conducted a multiple linear regression using age and diagnosis as predictor variables in order to evaluate strength of the relationship between age, diagnosis or an interaction of the two factors and the degree of modulation in cortical excitability by transcranial magnetic stimulation as an index of cortical plasticity. Results indicate that across the age-span individuals with ASD show a consistently increased modulation of cortical excitability as compared to typically developing individuals, such that the general slope of decline across the age span is matched across both groups. We have argued that an individual's risk of age-related cognitive decline (and risk for manifesting symptoms of dementia) depends on the individual's starting point and slopes of change in plasticity efficiency over the lifespan. Therefore, our results suggest that individuals with ASD might be relatively protected from age-related cognitive decline and the risk of dementia. (C) 2014 Published by Elsevier Ltd.
C1 Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Div Brain Stimulat & Cognit Training, Dept Neurol, Boston, MA 02215 USA.
Harvard Univ, Sch Med, Cambridge, MA 02138 USA.
RP Pascual-Leone, A (reprint author), Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, 330 Brookline Ave,KS 158, Boston, MA 02215 USA.
EM apleone@bidmc.harvard.edu
FU National Institutes of Health; National Institute of Mental Health
[1R01MH100186]; Harvard Catalyst \ The Harvard Clinical and
Translational Science Center (NCRR); Harvard Catalyst I The Harvard
Clinical and Translational Science Center (NCATS NIH) [8KL2TR000168-05];
Harvard Clinical and Translational Science Center [8UL1TR000170-05];
Epilepsy Research Foundation; Simons Foundation; Nancy Lurie Marks
Family Foundation; National Institutes of Health [R01HD069776,
R01NS073601, R21 MH099196, R21 NS082870, R21 NS085491, R21 HD07616, UL1
RR025758]; Michael J. Fox Foundation; Sidney R. Baer Foundation
FX Work on the project is supported by grants from the National Institutes
of Health and National Institute of Mental Health (1R01MH100186), and
Harvard Catalyst vertical bar The Harvard Clinical and Translational
Science Center (NCRR and the NCATS NIH 8KL2TR000168-05) Dr. Oberman is
further supported by grants from the Harvard Clinical and Translational
Science Center (8UL1TR000170-05), the Epilepsy Research Foundation, the
Simons Foundation and the Nancy Lurie Marks Family Foundation. Dr.
Pascual-Leone is further supported by grants from the National
Institutes of Health (R01HD069776, R01NS073601, R21 MH099196, R21
NS082870, R21 NS085491, R21 HD07616, UL1 RR025758), Michael J. Fox
Foundation and Sidney R. Baer Foundation.
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NR 21
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 SEP
PY 2014
VL 83
IS 3
BP 337
EP 342
DI 10.1016/j.mehy.2014.06.008
PG 6
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AP7PA
UT WOS:000342268000021
PM 25047996
ER
PT J
AU Stackpole, EE
Akins, MR
Fallon, JR
AF Stackpole, Emily E.
Akins, Michael R.
Fallon, Justin R.
TI N-myristoylation regulates the axonal distribution of the Fragile
X-related protein FXR2P
SO MOLECULAR AND CELLULAR NEUROSCIENCE
LA English
DT Article
DE RNA binding proteins; Myristoylation; Fragile X syndrome; FXR2P
ID MENTAL-RETARDATION PROTEIN; LIVING HIPPOCAMPAL-NEURONS; KINASE-C
SUBSTRATE; MESSENGER-RNA; MOUSE MODEL; FMRP; GRANULES; BINDING; AUTISM;
LOCALIZATION
AB Fragile X syndrome, the leading cause of inherited intellectual disability and autism, is caused by loss of function of Fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that regulates local protein synthesis in the somatodendritic compartment. However, emerging evidence also indicates important roles for FMRP in axonal and presynaptic functions. In particular, FMRP and its homologue FXR2P localize axonally and presynaptically to discrete endogenous structures in the brain termed Fragile X granules (FXGs). FXR2P is a component of all FXGs and is necessary for the axonal and presynaptic localization of FMRP to these structures. We therefore sought to identify and characterize structural features of FXR2P that regulate its axonal localization. Sequence analysis reveals that FXR2P harbors a consensus N-terminal myristoylation sequence (MGXXXS) that is absent in FMRP. Using click chemistry with wild type and an unmyristoylatable G2A mutant we demonstrate that FXR2P is N-myristoylated on glycine 2, establishing it as a lipid-modified RNA binding protein. To-investigate the role of FXR2P N-myristoylation in neurons we generated fluorescently tagged wild type and unmyristoylatable FXR2P (WT and G2A, respectively) and expressed them in primary cortical cultures. Both FXR2P(WT) and FXR2P(G2A) are expressed at equivalent overall levels and are capable of forming FMRP-containing axonal granules. However, FXR2P(WT) granules are largely restricted to proximal axonal segments while granules formed with unmyristoylatable FXR2PG2A are localized throughout the axonal arbor, including in growth cones. These studies indicate that N-terminal myristoylation of the RNA binding protein FXR2P regulates its localization within the axonal arbor. Moreover, since FMRP localization within axonal domains requires its association with FXR2P, these findings suggest that FXR2P lipid modification is a control point for the axonal and presynaptic distribution of FMRP. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Stackpole, Emily E.; Akins, Michael R.; Fallon, Justin R.] Brown Univ, Dept Neurosci, Providence, RI 02912 USA.
[Akins, Michael R.] Drexel Univ, Dept Biol, Philadelphia, PA 19104 USA.
RP Fallon, JR (reprint author), Brown Univ, Dept Neurosci, Box G-LN, Providence, RI 02912 USA.
EM Justin_Fallon@brown.edu
FU [HD052083]; [MH090237]
FX We thank B. McKechnie and C. Schmiedel for technical assistance and E.
Morrow for the use of the Neurolucida programs. We also thank T. Hughes
for the generous gift of the pBNJ24.6 vector. Grant support: HD052083 to
JRF and MH090237 to MRA.
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NR 54
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1044-7431
EI 1095-9327
J9 MOL CELL NEUROSCI
JI Mol. Cell. Neurosci.
PD SEP
PY 2014
VL 62
BP 42
EP 50
DI 10.1016/j.mcn.2014.08.003
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AP8MZ
UT WOS:000342334400005
PM 25109237
ER
PT J
AU Schoen, SA
Miller, LJ
Sullivan, JC
AF Schoen, Sarah A.
Miller, Lucy J.
Sullivan, Jillian C.
TI Measurement in Sensory Modulation: The Sensory Processing Scale
Assessment
SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY
LA English
DT Article
DE reproducibility of results; sensation disorders; sensory thresholds;
somatosensory disorders
ID YOUNG-CHILDREN; DEVELOPMENTAL DELAYS; TYPICAL DEVELOPMENT;
PRESCHOOL-CHILDREN; OVER-RESPONSIVITY; DAILY-LIFE; AUTISM; DISORDERS;
ADHD; DIAGNOSIS
AB OBJECTIVE. Sensory modulation issues have a significant impact on participation in daily life. Moreover, understanding phenotypic variation in sensory modulation dysfunction is crucial for research related to defining homogeneous groups and for clinical work in guiding treatment planning. We thus evaluated the new Sensory Processing Scale (SPS) Assessment.
METHOD. Research included item development, behavioral scoring system development, test administration, and item analyses to evaluate reliability and validity across sensory domains.
RESULTS. Items with adequate reliability (internal reliability >.4) and discriminant validity (p < .01) were retained. Feedback from the expert panel also contributed to decisions about retaining items in the scale.
CONCLUSION. The SPS Assessment appears to be a reliable and valid measure of sensory modulation (scale reliability >.90; discrimination between group effect sizes >1.00). This scale has the potential to aid in differential diagnosis of sensory modulation issues.
C1 [Schoen, Sarah A.; Miller, Lucy J.; Sullivan, Jillian C.] Sensory Proc Disorder Fdn, Greenwood Village, CO 80111 USA.
[Schoen, Sarah A.; Miller, Lucy J.] Rocky Mt Univ Hlth Profess, Provo, UT USA.
[Miller, Lucy J.] STAR Ctr, Greenwood Village, CO USA.
[Miller, Lucy J.] Univ Colorado Denver, Dept Pediat, Denver, CO USA.
RP Schoen, SA (reprint author), Sensory Proc Disorder Fdn, 5420 South Quebec St,Suite 135, Greenwood Village, CO 80111 USA.
EM schoen@spdfoundation.net
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Zero to Three, 2005, DIAGNOSTIC CLASSIFIC
NR 38
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 SEP-OCT
PY 2014
VL 68
IS 5
SI SI
BP 522
EP 530
DI 10.5014/ajot.2014.012377
PG 9
WC Rehabilitation
SC Rehabilitation
GA AO9MB
UT WOS:000341678700005
PM 25184464
ER
PT J
AU Doorenweerd, N
Straathof, CS
Dumas, EM
Spitali, P
Ginjaar, IB
Wokke, BH
Schrans, DG
van den Bergen, JC
van Zwet, EW
Webb, A
van Buchem, MA
Verschuuren, JJ
Hendriksen, JG
Niks, EH
Kan, HE
AF Doorenweerd, Nathalie
Straathof, Chiara S.
Dumas, Eve M.
Spitali, Pietro
Ginjaar, Ieke B.
Wokke, Beatrijs H.
Schrans, Debby G.
van den Bergen, Janneke C.
van Zwet, Erik W.
Webb, Andrew
van Buchem, Mark A.
Verschuuren, Jan J.
Hendriksen, Jos G.
Niks, Erik H.
Kan, Hermien E.
TI Reduced Cerebral Gray Matter and Altered White Matter in Boys with
Duchenne Muscular Dystrophy
SO ANNALS OF NEUROLOGY
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; CENTRAL-NERVOUS-SYSTEM; BRAIN-DEVELOPMENT;
MR-IMAGES; CHILDREN; NEURONS; CORTEX; MALES; DMD; QUESTIONNAIRE
AB Objective: Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with mutations in the distal part of the DMD gene, predicted to affect expression of shorter protein isoforms. We used quantitative magnetic resonance (MR) imaging to study brain microstructure in DMD.
Methods: T1-weighted and diffusion tensor images were obtained on a 3T MR scanner from 30 patients and 22 age-matched controls (age = 8-18 years). All subjects underwent neuropsychological examination. Group comparisons on tissue volume and diffusion tensor imaging parameters were made between DMD patients and controls, and between 2 DMD subgroups that were classified according to predicted Dp140 isoform expression (DMD_Dp140(+) and DMD_Dp140(-)).
Results: DMD patients had smaller total brain volume, smaller gray matter volume, lower white matter fractional anisotropy, and higher white matter mean and radial diffusivity than healthy controls. DMD patients also performed worse on neuropsychological examination. Subgroup analyses showed that DMD_Dp140(-) subjects contributed most to the gray matter volume differences and performed worse on information processing.
Interpretation: Both gray and white matter is affected in boys with DMD at a whole brain level. Differences between the DMD_Dp140(-) subgroup and controls indicate an important role for the Dp140 dystrophin isoform in cerebral development.
C1 [Doorenweerd, Nathalie; Webb, Andrew; van Buchem, Mark A.; Kan, Hermien E.] Leiden Univ, Med Ctr, Dept Radiol, CJ Gorter Ctr High Field MRI, NL-2333 ZA Leiden, Netherlands.
[Doorenweerd, Nathalie; Kan, Hermien E.] Leiden Inst Brain & Cognit, Leiden, Netherlands.
[Doorenweerd, Nathalie; Straathof, Chiara S.; Dumas, Eve M.; Wokke, Beatrijs H.; van den Bergen, Janneke C.; Verschuuren, Jan J.; Niks, Erik H.] Leiden Univ, Med Ctr, Dept Neurol, NL-2333 ZA Leiden, Netherlands.
[Spitali, Pietro] Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands.
[Ginjaar, Ieke B.] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2333 ZA Leiden, Netherlands.
[Schrans, Debby G.; Hendriksen, Jos G.] Kempenhaeghe Epilepsy Ctr, Dept Neurol Learning Disabil, Heeze, Netherlands.
[van Zwet, Erik W.] Leiden Univ, Med Ctr, Dept Med Stat, NL-2333 ZA Leiden, Netherlands.
[Hendriksen, Jos G.] Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands.
RP Doorenweerd, N (reprint author), Leiden Univ, Med Ctr, Dept Radiol, C-03-Q,Albinusdreef2, NL-2333 ZA Leiden, Netherlands.
EM N.Doorenweerd@lumc.nl
RI Kan, Hermien/L-2385-2013
OI Kan, Hermien/0000-0002-5772-7177
FU Duchenne Parent Project NL; Gratama Stichting
FX The sponsors, Duchenne Parent Project NL and Gratama Stichting, had no
role in study design, data collection, data analysis, data
interpretation, or writing of the report.
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NR 40
TC 0
Z9 0
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 SEP
PY 2014
VL 76
IS 3
BP 403
EP 411
DI 10.1002/ana.24222
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AP6RG
UT WOS:000342204500011
PM 25043804
ER
PT J
AU Wainer, J
Robins, B
Amirabdollahian, F
Dautenhahn, K
AF Wainer, Joshua
Robins, Ben
Amirabdollahian, Farshid
Dautenhahn, Kerstin
TI Using the Humanoid Robot KASPAR to Autonomously Play Triadic Games and
Facilitate Collaborative Play Among Children With Autism
SO IEEE TRANSACTIONS ON AUTONOMOUS MENTAL DEVELOPMENT
LA English
DT Article
DE Autism; autonomous robots; human-robot interaction; humanoid robots;
therapeutic robots
ID SPECTRUM DISORDERS; JOINT ATTENTION; IMITATION; THERAPY; AGENT
AB This paper presents a novel design, implementation, and first evaluation of a triadic, collaborative game involving the humanoid robot, kinesics and synchronization in personal assistant robotics (KASPAR), playing games with pairs of children with autism. Children with autism have impaired social communication and social interaction skills which make it difficult for them to participate in many different forms of social and collaborative play. Our proof-of-concept 10-week, long term study demonstrates how a humanoid robot can be used to foster and support collaborative play among children with autism. In this work, KASPAR operates fully autonomously, and uses information on the state of the game and behavior of the children to engage, motivate, encourage, and advise pairs of children playing an imitation game. Results are presented from a first evaluation study which examined whether having pairs of children with autism play an imitative, collaborative game with a humanoid robot affected the way these children would play the same game without the robot. Our initial evaluation involved six children with autism who each participated in 23 controlled play sessions both with and without the robot, using a specially designed imitation-based collaborative game. In total 78 play sessions were run. Detailed observational analyses of the children's behaviors indicated that different pairs of children with autism showed improved social behaviors in playing with each other after they played as pairs with the robot KASPAR compared to before they did so. These results are encouraging and provide a proof-of-concept of using an autonomously operating robot to encourage collaborative skills among children with autism.
C1 [Wainer, Joshua; Robins, Ben; Amirabdollahian, Farshid; Dautenhahn, Kerstin] 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 wainer.joshua@gmail.com; b.robins@herts.ac.uk;
f.amirabdol-lahian2@herts.ac.uk; k.dautenhahn@herts.ac.uk
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NR 64
TC 0
Z9 0
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1943-0604
EI 1943-0612
J9 IEEE T AUTON MENT DE
JI IEEE Trans. Auton. Ment. Dev.
PD SEP
PY 2014
VL 6
IS 3
BP 183
EP 199
DI 10.1109/TAMD.2014.2303116
PG 17
WC Computer Science, Artificial Intelligence; Robotics; Neurosciences
SC Computer Science; Robotics; Neurosciences & Neurology
GA AP5JL
UT WOS:000342115400002
ER
PT J
AU Boucenna, S
Anzalone, S
Tilmont, E
Cohen, D
Chetouani, M
AF Boucenna, Sofiane
Anzalone, Salvatore
Tilmont, Elodie
Cohen, David
Chetouani, Mohamed
TI Learning of Social Signatures Through Imitation Game Between a Robot and
a Human Partner
SO IEEE TRANSACTIONS ON AUTONOMOUS MENTAL DEVELOPMENT
LA English
DT Article
DE Autism spectrum disorder; human-robot interaction; imitation;
sensory-motor architecture
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL ROBOTICS; ASSISTIVE ROBOTICS;
DEPRESSED MOTHERS; COMMUNICATION; CHILDREN; INFANTS; RECOGNITION;
DEMONSTRATIONS; INDIVIDUALS
AB In this paper, a robot learns different postures by imitating several partners. We assessed the effect of the type of partners, i.e., adults, typically developing (TD) children and children with autism spectrum disorder (ASD), on robot learning during an imitation game. The experimental protocol was divided into two phases: 1) a learning phase, during which the robot produced a random posture and the partner imitated the robot; and 2) a phase in which the roles were reversed and the robot had to imitate the posture of the human partner. Robot learning was based on a sensory-motor architecture whereby neural networks (N.N.) enabled the robot to associate what it did with what it saw. Several metrics (i.e., annotation, the number of neurons needed to learn, and normalized mutual information) were used to show that the partners affected robot learning. The first result obtained was that learning was easier with adults than with both groups of children, indicating a developmental effect. Second, learning was more complex with children with ASD compared to both adults and TD children. Third, learning with the more complex partner first (i.e., children with ASD) enabled learning to be more easily generalized.
C1 [Boucenna, Sofiane; Anzalone, Salvatore; Tilmont, Elodie; Chetouani, Mohamed] Univ Paris 06, CNRS, UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
[Cohen, David] Univ Paris 06, Grp Hosp Piti SalpAtrire, AP HP, Dept Child & Adolescent Psychiat, Paris, France.
RP Boucenna, S (reprint author), Univ Paris 06, CNRS, UMR 7222, Inst Syst Intelligents & Robot, Paris, France.
EM sofiane.boucenna@gmail.com; anza-lone@isir.upmc.fr;
elodie.tilmont@isir.upmc.fr; david.cohen@psl.aphp.fr;
mohamed.chetouani@upmc.fr
FU European Commission [288241]; endowment fund "Entreprendre pour aider"
FX This work was supported by the European Commission (FP7: MICHELANGELO
under Grant 288241) and the endowment fund "Entreprendre pour aider."
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NR 85
TC 0
Z9 0
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 1943-0604
EI 1943-0612
J9 IEEE T AUTON MENT DE
JI IEEE Trans. Auton. Ment. Dev.
PD SEP
PY 2014
VL 6
IS 3
BP 213
EP 225
DI 10.1109/TAMD.2014.2319861
PG 13
WC Computer Science, Artificial Intelligence; Robotics; Neurosciences
SC Computer Science; Robotics; Neurosciences & Neurology
GA AP5JL
UT WOS:000342115400004
ER
PT J
AU Siegel, M
Beresford, CA
Bunker, M
Verdi, M
Vishnevetsky, D
Karlsson, C
Teer, O
Stedman, A
Smith, KA
AF Siegel, Matthew
Beresford, Carol A.
Bunker, Madisun
Verdi, Mary
Vishnevetsky, Donna
Karlsson, Cassie
Teer, Olivia
Stedman, Amy
Smith, Kahsi A.
TI Preliminary Investigation of Lithium for Mood Disorder Symptoms in
Children and Adolescents with Autism Spectrum Disorder
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
AB Objective: Children with autism spectrum disorder (ASD) have higher rates of comorbid psychiatric disorders, including mood disorders, than the general child population. Although children with ASD may experience irritability (aggression, self-injury, and tantrums), a portion also experience symptoms that are typical of a mood disorder, such as euphoria/elevated mood, mania, hypersexuality, paranoia, or decreased need for sleep. Despite lithium's established efficacy in controlling mood disorder symptoms in the neurotypical population, lithium has been rarely studied in children with ASD.
Methods: We performed a retrospective chart review of 30 children and adolescents diagnosed with ASD by the Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) criteria who were prescribed lithium in order to assess target symptoms, safety, and tolerability. Clinical Global Impressions - Improvement (CGI-I) ratings were performed by two board-certified child psychiatrists with expertise in ASD. CGI-I scores were dichotomized into "improved'' (CGI-I score of 1 or 2) or "not improved'' (CGI-I score >= 3).
Results: Forty-three percent of patients who received lithium were rated as "improved'' on the CGI-I. Seventy-one percent of patients who had two or more pretreatment mood disorder symptoms were rated as "improved.'' The presence of mania (p = 0.033) or euphoria/elevated mood (p = 0.041) were the pretreatment symptoms significantly associated with an "improved'' rating. The mean lithium blood level was 0.70 mEq/L (SD = 0.26), and the average length of lithium treatment was 29.7 days (SD = 23.9). Forty-seven percent of patients were reported to have at least one side effect, most commonly vomiting (13%), tremor (10%), fatigue (10%), irritability (7%), and enuresis (7%).
Conclusions: This preliminary assessment of lithium in children and adolescents with ASD suggests that lithium may be a medication of interest for those who exhibit two or more mood disorder symptoms, particularly mania or euphoria/elevated mood. A relatively high side effect rate merits caution, and these results are limited by the retrospective, uncontrolled study design. Future study of lithium in a prospective trial with treatment-sensitive outcome measures may be indicated.
C1 [Siegel, Matthew] Tufts Univ, Sch Med, Dept Psychiat, Boston, MA 02111 USA.
[Siegel, Matthew; Bunker, Madisun; Verdi, Mary; Teer, Olivia; Stedman, Amy] Spring Harbor Hosp, Westbrook, ME 04092 USA.
[Siegel, Matthew; Smith, Kahsi A.] Maine Med Ctr, Res Inst, Scarborough, ME USA.
[Beresford, Carol A.; Vishnevetsky, Donna; Karlsson, Cassie] Univ Colorado, Denver, CO 80202 USA.
[Beresford, Carol A.] Childrens Hosp, Aurora, CO USA.
RP Siegel, M (reprint author), Spring Harbor Hosp, 123 Andover Rd, Westbrook, ME 04092 USA.
EM siegem@springharbor.org
FU Maine Medical Center Research Institute; Pond Family Foundation
FX This work was performed with general support from the Maine Medical
Center Research Institute and the Pond Family Foundation.
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
CAMPBELL M, 1972, J AUTISM CHILD SCHIZ, V2, P234, DOI 10.1007/BF01537617
CDC, 2012, MMWR SURVEILL SUMM, V61, P1
Guy W., 1976, ECDEU ASSESSMENT MAN
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NR 9
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD SEP
PY 2014
VL 24
IS 7
BP 399
EP 402
DI 10.1089/cap.2014.0019
PG 4
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AP6CD
UT WOS:000342164200006
PM 25093602
ER
PT J
AU Henry, CA
Nowinski, L
Koesterer, K
Ferrone, C
Spybrook, J
Bauman, M
AF Henry, Charles A.
Nowinski, Lisa
Koesterer, Karmen
Ferrone, Christine
Spybrook, Jessaca
Bauman, Margaret
TI Low Rates of Depressed Mood and Depression Diagnoses in a Clinic Review
of Children and Adolescents with Autistic Disorder
SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS;
INFANTILE-AUTISM; SYMPTOMS; BEHAVIOR; ADULTS; CHILDHOOD; ANXIETY
AB Objectives: The purpose of this study was to investigate the prevalence of depression diagnoses and related clinical data in an outpatient sample of youth with autistic disorder.
Methods: Records of 123 psychiatrically referred children and adolescents with a Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) diagnosis of autistic disorder were examined. Mood disorder diagnoses and chief complaints along with family mood disorder history were the primary variables analyzed.
Results: Four subjects (3%) presented with depressed mood. Irritability complaints were frequent (n = 78, 63%). Six subjects (5%) received a mood disorder diagnosis; all with mood disorder, not otherwise specified. No subjects received a depressive disorder diagnosis. Family history of mood disorders was common.
Conclusions: Findings raise questions about the appropriate characterization and potential misdiagnoses of depression in youth with autistic disorder.
C1 [Henry, Charles A.; Nowinski, Lisa; Koesterer, Karmen] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02445 USA.
[Ferrone, Christine] Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02445 USA.
[Spybrook, Jessaca] Western Michigan Univ, Dept Evaluat Measurement & Res Dept, Kalamazoo, MI 49008 USA.
[Bauman, Margaret] Boston Univ, Dept Pathol & Lab Med, Boston, MA 02215 USA.
RP Henry, CA (reprint author), Massachusetts Gen Hosp, Dept Psychiat, 1 Brookline Pl 426, Boston, MA 02445 USA.
EM charles_henry@hms.harvard.edu
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NR 32
TC 0
Z9 0
PU MARY ANN LIEBERT, INC
PI NEW ROCHELLE
PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
SN 1044-5463
EI 1557-8992
J9 J CHILD ADOL PSYCHOP
JI J. Child Adolesc. Psychopharmacol.
PD SEP
PY 2014
VL 24
IS 7
BP 403
EP 406
DI 10.1089/cap.2014.0024
PG 4
WC Pediatrics; Pharmacology & Pharmacy; Psychiatry
SC Pediatrics; Pharmacology & Pharmacy; Psychiatry
GA AP6CD
UT WOS:000342164200007
PM 25198799
ER
PT J
AU Romanelli, M
Rhodes, A
AF Romanelli, Mark
Rhodes, Arthur
TI Guanfacine-Induced Lichenoid Drug Eruption in a Child with Autism and
Attention Deficit Hyperactivity Disorder
SO PEDIATRIC DERMATOLOGY
LA English
DT Article
AB Lichenoid drug eruptions (LDEs) have a variety of medication causes. We report a case of a 5-year-old boy with autism and attention deficit hyperactivity disorder treated with guanfacine who developed pruritic lesions consistent with LDEs. Rechallenge was not attempted. There are several clinical and histopathologic clues that may distinguish LDEs from lichen planus.
C1 [Romanelli, Mark; Rhodes, Arthur] Rush Univ, Med Ctr, Dept Dermatol, Chicago, IL 60612 USA.
RP Romanelli, M (reprint author), Rush Univ, Med Ctr, Dept Dermatol, 1653 W Congress Pkwy,220 Annex Bldg, Chicago, IL 60612 USA.
EM markgromanelli@gmail.com
CR Basow DS, 2011, PEDIAT NEONATAL LEXI
Black MM, 1986, TXB DERMATOLOGY, P1665
Bolognia JL, 2008, DERMATOLOGY
HALEVY S, 1993, J AM ACAD DERMATOL, V29, P249
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NR 5
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0736-8046
EI 1525-1470
J9 PEDIATR DERMATOL
JI Pediatr. Dermatol.
PD SEP-OCT
PY 2014
VL 31
IS 5
BP 614
EP 615
DI 10.1111/pde.12197
PG 3
WC Dermatology; Pediatrics
SC Dermatology; Pediatrics
GA AP1FE
UT WOS:000341811700020
PM 23869619
ER
PT J
AU Chudal, R
Gissler, M
Sucksdorff, D
Lehti, V
Suominen, A
Hinkka-Yli-Salomaki, S
Brown, AS
Sourander, A
AF Chudal, Roshan
Gissler, Mika
Sucksdorff, Dan
Lehti, Venla
Suominen, Auli
Hinkka-Yli-Salomaki, Susanna
Brown, Alan S.
Sourander, Andre
TI Parental age and the risk of bipolar disorders
SO BIPOLAR DISORDERS
LA English
DT Article
DE bipolar disorder; epidemiology; parental age; U-shaped
ID ADVANCING PATERNAL AGE; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
POPULATION-BASED COHORT; PSYCHIATRIC-DISORDERS; MATERNAL AGE;
SCHIZOPHRENIA; BIRTH; PSYCHOSIS; EXPLAIN
AB Objectives Studies on the association between parental age and bipolar disorder (BPD) are scarce and with inconsistent findings. The aim of this study was to examine the association of parental age and age difference between parents with risk of BPD in offspring. Methods This nested case-control study identified 1,861 cases of individuals with BPD born in Finland during 1983-1998 and diagnosed by the end of 2008, and 3,643 sex- and date of birth-matched controls from nationwide population-based registers. Conditional logistic regression was used to examine the association adjusting for potential confounding due to age of the other parent, parental psychiatric history, educational level, and place of birth. Results A U-shaped association of unadjusted odds ratios (ORs) for BPD risk was seen in different paternal age categories, with the odds increasing at both ends of the age spectrum. In the adjusted analyses, offspring of fathers aged 50years had a 2.8-fold increased odds [OR=2.84, 95% confidence interval (CI): 1.32-6.12] of BPD as compared to those with fathers aged 30-34years. The odds were increased 1.3-fold (OR=1.35, CI: 1.06-1.72) in fathers aged 20-24years. No significant association was found between maternal age and BPD in the adjusted analyses. Age difference between parents was not associated with BPD. Conclusions The increased risk of BPD in offspring of the youngest and oldest fathers in the study suggests the involvement of different biological and psychosocial factors at the two ends of the paternal age spectrum. These findings may be significant in the context of advancing parental age in recent times.
C1 [Chudal, Roshan; Gissler, Mika; Sucksdorff, Dan; Lehti, Venla; Suominen, Auli; Hinkka-Yli-Salomaki, Susanna; Sourander, Andre] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Gissler, Mika] Nord Sch Publ Hlth, Gothenburg, Sweden.
[Gissler, Mika] Natl Inst Hlth & Welf, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Brown, Alan S.] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[Sourander, Andre] Univ Tromso, Reg Ctr Child & Youth Mental Hlth & Child Welf, Tromso, Norway.
RP Sourander, A (reprint author), Univ Turku, Fac Med, Inst Clin Med, Res Ctr Child Psychiat, Lemminkaisenkatu 3 Teutori 3rd Floor, Turku 20014, Finland.
EM andsou@utu.fi
RI Chudal, Roshan/C-1067-2015
FU NARSAD Independent Investigator Award, USA (AS) [K02 MH065422-10]
FX The study was supported by grants from the NARSAD Independent
Investigator Award, USA (AS), the Sigrid Juselius Foundation, Finland
(AS), and K02 MH065422-10 (ASB). This study was conducted at the
University of Turku, Finland and we thank the study investigators and
staff at the medical centers involved in this research. Specifically we
would like to thank the members involved in the data collection process,
including: Juha-Pekka Virtanen, Pyry Kantanen, Kristiina Saanakorpi,
Ulla Kulmala, Tanja Sarlin, Jarna Lindroos, and Lauri Sillanmaki from
the Research Centre for Child Psychiatry, University of Turku.
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NR 61
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1398-5647
EI 1399-5618
J9 BIPOLAR DISORD
JI Bipolar Disord.
PD SEP
PY 2014
VL 16
IS 6
BP 624
EP 632
DI 10.1111/bdi.12182
PG 9
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AO8GU
UT WOS:000341592700008
PM 24499422
ER
PT J
AU Sanchez, RP
Bartel, CM
Brown, E
DeRosier, M
AF Sanchez, Rebecca Polley
Bartel, Chelsea M.
Brown, Emily
DeRosier, Melissa
TI The acceptability and efficacy of an intelligent social tutoring system
SO COMPUTERS & EDUCATION
LA English
DT Article
DE Intelligent tutoring system; Educational computer game; eLeaming; Social
skills training; Social skills intervention
ID HIGH-FUNCTIONING AUTISM; ANTISOCIAL-BEHAVIOR; PEER REJECTION; CHILDREN;
SKILLS; SCHOOL; INTERVENTIONS; ADJUSTMENT; METAANALYSIS; PREVENTION
AB This study tested the acceptability and efficacy of an innovative intelligent tutoring system (ITS), Adventures Aboard the S.S. GRIN, that translates the evidence-based in-person Social Skills Group Intervention (SSGRIN) into an interactive game-based social tutorial. This randomized controlled pilot trial tested the first half of the social tutorial software for children with social skills challenges. Participating children in grades 3-5 were randomly assigned to immediate treatment (n = 19) or wait-list control (n = 17). User ratings indicated the software was easy to use and well-liked for this audience. The program was also associated with observable changes in social skills and behavior; children who interacted with Adventures Aboard the S.S. GRIN exhibited lower psychosocial distress and higher behavioral and emotional strength at post-test compared to children who did not. This pilot study offers important insights about the feasibility and potential effectiveness of online social skills training and lays the groundwork for future full-scale effectiveness testing. The advantages of using this state-of-the-art approach and its implications for improving social, emotional, and academic outcomes are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Sanchez, Rebecca Polley; Bartel, Chelsea M.; Brown, Emily; DeRosier, Melissa] 3C Inst, Cary, NC 27513 USA.
RP Sanchez, RP (reprint author), 3C Inst, 1901 North Harrison Ave,Suite 200, Cary, NC 27513 USA.
EM sanchez@3cisd.com; bartel@3cisd.com; brown@3cisd.com; derosier@3cisd.com
FU Institute for Education Science [R305A110583]
FX This research was supported by a grant from the Institute for Education
Science (Grant #R305A110583) to the Center for Research in Emotional and
Social Health (CRESH). We gratefully acknowledge their financial
support. We also thank our development team for their contributions to
the program, particularly Chris Hehman, Jeremiah Weatherley, Matt Habel,
Chrystin Garland, Jon Fabris, Charles Bevan, Marcelo Nader, Kim Smith,
and Wes Sommer.
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NR 79
TC 0
Z9 0
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 SEP
PY 2014
VL 78
BP 321
EP 332
DI 10.1016/j.compedu.2014.06.013
PG 12
WC Computer Science, Interdisciplinary Applications; Education &
Educational Research
SC Computer Science; Education & Educational Research
GA AO9KR
UT WOS:000341675100029
ER
PT J
AU O'Nions, E
Sebastian, CL
McCrory, E
Chantiluke, K
Happe, F
Viding, E
AF O'Nions, Elizabeth
Sebastian, Catherine L.
McCrory, Eamon
Chantiluke, Kaylita
Happe, Francesca
Viding, Essi
TI Neural bases of Theory of Mind in children with autism spectrum
disorders and children with conduct problems and callous-unemotional
traits
SO DEVELOPMENTAL SCIENCE
LA English
DT Article
ID ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; AMYGDALA RESPONSE; NONVERBAL
TASK; ADOLESCENTS; BRAIN; ATTRIBUTION; EMPATHY; SAMPLE; COMPREHENSION
AB Individuals with autism spectrum disorders (ASD) have difficulty understanding other minds (Theory of Mind; ToM), with atypical processing evident at both behavioural and neural levels. Individuals with conduct problems and high levels of callous-unemotional (CU) traits (CP/HCU) exhibit reduced responsiveness to others' emotions and difficulties interacting with others, but nonetheless perform normally in experimental tests of ToM. The present study aimed to examine the neural underpinnings of ToM in children (aged 10-16) with ASD (N=16), CP/HCU (N=16) and typically developing (TD) controls (N=16) using a non-verbal cartoon vignette task. Whilst individuals with ASD were predicted to show reduced fMRI responses across regions involved in ToM processing, CP/HCU individuals were predicted to show no differences compared with TD controls. The analyses indicated that neural responses did not differ between TD and CP/HCU groups during ToM. TD and CP/HCU children exhibited significantly greater medial prefrontal cortex responses during ToM than did the ASD group. Within the ASD group, responses in medial prefrontal cortex and right temporoparietal junction (TPJ) correlated with symptom severity as measured by the Autism Diagnostic Observation Schedule (ADOS). Findings suggest that although both ASD and CP/HCU are characterized by social difficulties, only children with ASD display atypical neural processing associated with ToM.
C1 [O'Nions, Elizabeth; Sebastian, Catherine L.; McCrory, Eamon; Chantiluke, Kaylita; Happe, Francesca; Viding, Essi] UCL, Dev Risk & Resilience Unit, Clin Educ & Hlth Psychol Res Dept, London WC1H 0AP, England.
[Sebastian, Catherine L.] Univ London, Dept Psychol, London WC1E 7HU, England.
RP O'Nions, E (reprint author), UCL, Dev Risk & Resilience Unit, Clin Educ & Hlth Psychol Res Dept, 26 Bedford Way, London WC1H 0AP, England.
EM e.o'nions@ucl.ac.uk; e.viding@ucl.ac.uk
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NR 56
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1363-755X
EI 1467-7687
J9 DEVELOPMENTAL SCI
JI Dev. Sci.
PD SEP
PY 2014
VL 17
IS 5
BP 786
EP 796
DI 10.1111/desc.12167
PG 11
WC Psychology, Developmental; Psychology, Experimental
SC Psychology
GA AO7DG
UT WOS:000341511600013
PM 24636205
ER
PT J
AU Strunk, JA
Pickler, R
McCain, NL
Ameringer, S
Myers, BJ
AF Strunk, Julie A.
Pickler, Rita
McCain, Nancy L.
Ameringer, Suzanne
Myers, Barbara J.
TI Managing the Health Care Needs of Adolescents With Autism Spectrum
Disorder: The Parents' Experience
SO FAMILIES SYSTEMS & HEALTH
LA English
DT Article
DE adolescents' health care; autism spectrum disorder; health care needs;
parents; phenomenology
ID MEDICAL HOME; UNITED-STATES; CHILDREN; STRESS; MOTHERS; FAMILY;
PARTNERSHIPS; BEHAVIORS; SERVICES; FATHERS
AB Parents of adolescents with autism spectrum disorder (ASD) experience the challenges of navigating the health care system, locating information about ASD, lacking an understanding of prescribed medications, and experiencing minimal social support from health care providers. The purpose of this phenomenological study was to describe the experiences of parents who manage the health needs of an adolescent with ASD. Qualitative interviews were conducted at a university setting with 12 parents of 10 adolescents with ASD residing in Central Virginia. Data were analyzed using Moustakas' method in which the phenomenologist asks the following questions: What are the individual's experiences and in what context did they experience them? This study maximized credibility using 3 strategies: prolonged engagement, peer debriefing, and member checking. "Parents needing assistance" emerged as the essence of the parents' experiences. Four themes representing the essential challenging elements of the parents' experiences included concern with medications, frustrations with health care services, recognizing secondary health issues, and the need for resources and services. Findings of the current study revealed key factors to be considered in the development and delivery of health care for adolescents with ASD. These include creating and planning interventions for parents, sharing information about resources and services, and collaborating with others in the health care field. Additional research, both qualitative and quantitative, is needed to understand how parents and adolescents with ASD experience this transitional period.
C1 [Strunk, Julie A.] James Madison Univ, Dept Nursing, Harrisonburg, VA 22807 USA.
[Pickler, Rita] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.
[McCain, Nancy L.; Ameringer, Suzanne] Virginia Commonwealth Univ, Sch Nursing, Richmond, VA 23284 USA.
[Myers, Barbara J.] Virginia Commonwealth Univ, Sch Psychol, Richmond, VA 23284 USA.
RP Strunk, JA (reprint author), James Madison Univ, Dept Nursing, MSC 4305,820 Madison Dr, Harrisonburg, VA 22807 USA.
EM strunkja@jmu.edu
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NR 52
TC 0
Z9 0
PU EDUCATIONAL PUBLISHING FOUNDATION-AMERICAN PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST, NE, WASHINGTON, DC 20002-4242 USA
SN 1091-7527
EI 1939-0602
J9 FAM SYST HEALTH
JI Fam. Syst. Health
PD SEP
PY 2014
VL 32
IS 3
BP 328
EP 337
DI 10.1037/a0037180
PG 10
WC Health Care Sciences & Services; Family Studies; Public, Environmental &
Occupational Health
SC Health Care Sciences & Services; Family Studies; Public, Environmental &
Occupational Health
GA AP1QF
UT WOS:000341845300008
PM 24911770
ER
PT J
AU Henderson, LB
Applegate, CD
Wohler, E
Sheridan, MB
Hoover-Fong, J
Batista, DAS
AF Henderson, Lindsay B.
Applegate, Carolyn D.
Wohler, Elizabeth
Sheridan, Molly B.
Hoover-Fong, Julie
Batista, Denise A. S.
TI The impact of chromosomal microarray on clinical management: a
retrospective analysis
SO GENETICS IN MEDICINE
LA English
DT Article
DE autism; clinical management; clinical utility; chromosomal microarray;
intellectual disability
ID COPY-NUMBER VARIATIONS; DEVELOPMENTAL-DISABILITIES; HUMAN GENOME; DELAY;
INDIVIDUALS; CYSTINOSIS; MUTATIONS; ANOMALIES; VARIANTS
AB Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has been extensively shown to provide a higher diagnostic yield than conventional cytogenetic methods, some health insurers refuse to provide coverage for this test, claiming that it is experimental and does not affect patients' clinical management.
Methods: We retrospectively reviewed the electronic medical records of all patients who had abnormal chromosomal microarray findings reported by our laboratory over a 3-year period and quantified the management recommendations made in response to these results.
Results: Abnormal chromosomal microarray findings were reported for 12.7% of patients (227/1,780). For patients with clinical follow-up notes available, these results had management implications for 54.5% of patients in the entire abnormal cohort (102/187) and for 42.1% of patients referred for isolated neurodevelopmental disorders (16/38). Recommendations included pharmacological treatment, cancer-related screening or exclusion of screening, contraindications, and referrals for further evaluation.
Conclusion: These results empirically demonstrate the clinical utility of chromosomal microarray by providing evidence that management was directly affected for the majority of patients in our cohort with abnormal chromosomal microarray findings.
C1 [Henderson, Lindsay B.; Applegate, Carolyn D.; Sheridan, Molly B.; Hoover-Fong, Julie; Batista, Denise A. S.] Johns Hopkins Med Inst, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
[Wohler, Elizabeth; Batista, Denise A. S.] Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA.
[Batista, Denise A. S.] Johns Hopkins Univ, Dept Pathol, Baltimore, MD USA.
RP Batista, DAS (reprint author), Johns Hopkins Med Inst, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.
EM dbatist1@jhmi.edu
FU National Institutes of Health [5P30 HD024061-23]
FX The authors thank the staff at the Cytogenetics and Microarray
Laboratory at the Kennedy Krieger Institute. This work was partially
supported by National Institutes of Health grant 5P30 HD024061-23 to the
Intellectual and Developmental Disabilities Research Center.
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NR 33
TC 1
Z9 1
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 SEP
PY 2014
VL 16
IS 9
BP 657
EP 664
DI 10.1038/gim.2014.18
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AP1LG
UT WOS:000341830800002
PM 24625444
ER
PT J
AU Bonarrigo, FA
Russo, S
Vizziello, P
Menni, F
Cogliati, F
Giorgini, V
Monti, F
Milani, D
AF Bonarrigo, Francesca Andrea
Russo, Silvia
Vizziello, Paola
Menni, Francesca
Cogliati, Francesca
Giorgini, Valentina
Monti, Federico
Milani, Donatella
TI Think About It: FMR1 Gene Mosaicism
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE fragile X syndrome; intellectual disability; mosaicism
ID FRAGILE-X-SYNDROME; CGG REPEAT; FULL MUTATION; NORMAL SIZE; DIAGNOSIS;
DELETION; REGION; ALLELE; INSTABILITY; HOTSPOT
AB Fragile X syndrome (FXS) is one of the most frequent causes of mental retardation, intellectual disability, and autism. Most cases are the result of an expansion of the CGG trinucleotide repeat in the 5 untranslated region of the FMR1 gene and the subsequent functional loss of the related protein. We describe the case of a 4-year-old boy who clinically presents mild psychomotor delay without any major clinical dysmorphisms. Molecular analysis of the FMR1 gene showed mosaicism in terms of size and methylation, with one normal and 1 fully mutated allele, which is very rare in this syndrome. Physicians should therefore consider a diagnosis of FXS even if the patient's phenotype is mild. Although rare, diagnosing this condition has important consequences for the patient's rehabilitation and the family planning of parents and relatives.
C1 [Bonarrigo, Francesca Andrea; Menni, Francesca; Milani, Donatella] Univ Milan, Dept Pathophysiol & Transplantat, Pediat Clin 1, Fdn IRCCS Ca Granda Osped Maggiore Policlin, I-20122 Milan, Italy.
[Russo, Silvia; Cogliati, Francesca; Giorgini, Valentina] Ist Auxol Italiano, Cytogenet & Mol Genet Lab, Milan, Italy.
[Vizziello, Paola; Monti, Federico] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Child & Adolescent Neuropsychiat UONPIA, Milan, Italy.
RP Milani, D (reprint author), Univ Milan, Dept Pathophysiol & Transplantat, Pediat Clin 1, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Via Commenda 9, I-20122 Milan, Italy.
EM donatella.milani@policlinico.mi.it
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NR 27
TC 0
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0883-0738
EI 1708-8283
J9 J CHILD NEUROL
JI J. Child Neurol.
PD SEP
PY 2014
VL 29
IS 9
SI SI
BP NP74
EP NP77
DI 10.1177/0883073813503187
PG 4
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AP1FK
UT WOS:000341812400007
PM 24065579
ER
PT J
AU Nakajima, Y
Meijer, J
Dobritzsch, D
Ito, T
Meinsma, R
Abeling, NGGM
Roelofsen, J
Zoetekouw, L
Watanabe, Y
Tashiro, K
Lee, T
Takeshima, Y
Mitsubuchi, H
Yoneyama, A
Ohta, K
Eto, K
Saito, K
Kuhara, T
van Kuilenburg, ABP
AF Nakajima, Yoko
Meijer, Judith
Dobritzsch, Doreen
Ito, Tetsuya
Meinsma, Rutger
Abeling, Nico G. G. M.
Roelofsen, Jeroen
Zoetekouw, Lida
Watanabe, Yoriko
Tashiro, Kyoko
Lee, Tomoko
Takeshima, Yasuhiro
Mitsubuchi, Hiroshi
Yoneyama, Akira
Ohta, Kazuhide
Eto, Kaoru
Saito, Kayoko
Kuhara, Tomiko
van Kuilenburg, Andre B. P.
TI Clinical, biochemical and molecular analysis of 13 Japanese patients
with beta-ureidopropionase deficiency demonstrates high prevalence of
the c.977G > A (p.R326Q) mutation
SO JOURNAL OF INHERITED METABOLIC DISEASE
LA English
DT Article
ID RHODOCOCCUS-RHODOCHROUS J1; TANDEM MASS-SPECTROMETRY; DIHYDROPYRIMIDINE
DEHYDROGENASE; AMINOISOBUTYRIC ACID; ALANINE SYNTHASE; TOXICITY; GENE;
DEGRADATION; NITRILASE; URINE
AB beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities.
C1 [Nakajima, Yoko; Meijer, Judith; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; van Kuilenburg, Andre B. P.] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1105 AZ Amsterdam, Netherlands.
[Nakajima, Yoko; Ito, Tetsuya] Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan.
[Dobritzsch, Doreen] Uppsala Univ, Dept Chem, BMC, S-75123 Uppsala, Sweden.
[Watanabe, Yoriko] Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan.
[Watanabe, Yoriko; Tashiro, Kyoko] Kurume Univ, Sch Med, Res Inst Med Mass Spectrometry, Kurume, Fukuoka 8300011, Japan.
[Lee, Tomoko; Takeshima, Yasuhiro] Kobe Univ, Dept Pediat, Grad Sch Med, Kobe, Hyogo 6500017, Japan.
[Mitsubuchi, Hiroshi] Kumamoto Univ Hosp, Dept Neonatol, Kumamoto 8608556, Japan.
[Yoneyama, Akira] Natl Rehabil Ctr Disabled Children, Tokyo 1730037, Japan.
[Ohta, Kazuhide] Natl Hosp Org, Dept Pediat, Kanazawa Med Ctr, Kanazawa, Ishikawa 9208650, Japan.
[Eto, Kaoru] Tokyo Womens Med Univ, Dept Pediat, Tokyo 1628111, Japan.
[Saito, Kayoko] Tokyo Womens Med Univ, Inst Med Genet, Tokyo 1620054, Japan.
[Kuhara, Tomiko] Japan Clin Metabol Inst, Kahoku, Ishikawa 9291174, Japan.
RP Nakajima, Y (reprint author), Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan.
EM ncu.metabolism@gmail.com
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NR 34
TC 3
Z9 3
PU SPRINGER
PI DORDRECHT
PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
SN 0141-8955
EI 1573-2665
J9 J INHERIT METAB DIS
JI J. Inherit. Metab. Dis.
PD SEP
PY 2014
VL 37
IS 5
BP 801
EP 812
DI 10.1007/s10545-014-9682-y
PG 12
WC Endocrinology & Metabolism; Genetics & Heredity
SC Endocrinology & Metabolism; Genetics & Heredity
GA AP1XE
UT WOS:000341864800013
PM 24526388
ER
PT J
AU Nicolaidis, C
Kripke, CC
Raymaker, D
AF Nicolaidis, Christina
Kripke, Clarissa Calliope
Raymaker, Dora
TI Primary Care for Adults on the Autism Spectrum
SO MEDICAL CLINICS OF NORTH AMERICA
LA English
DT Article
DE Autism spectrum disorders; Primary care; Adults; Developmental
disabilities
ID INTELLECTUAL DISABILITIES; SLEEP PROBLEMS; ASPERGER-SYNDROME;
YOUNG-ADULTS; DISORDERS; PEOPLE; HEALTH; INDIVIDUALS; CHILDREN;
COMMUNITY
AB Autism spectrum disorder (ASD) is defined by differences in social communication and restricted, repetitive patterns of behavior, interests, or activities. Skills and challenges can change depending on environmental stimuli, supports, and stressors. Quality of life can be improved by the use of accommodations, assistive technologies, therapies to improve adaptive function or communication, caregiver training, acceptance, access, and inclusion. This article focuses on the identification of ASD in adults, referrals for services, the recognition of associated conditions, strategies and accommodations to facilitate effective primary care services, and ethical issues related to caring for autistic adults.
C1 [Nicolaidis, Christina; Raymaker, Dora] Portland State Univ, Reg Res Inst, Sch Social Work, Portland, OR 97201 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97239 USA.
[Nicolaidis, Christina] Acad Autism Spectrum Partnership Res & Educ, Portland, OR 97239 USA.
[Kripke, Clarissa Calliope] Univ Calif San Francisco, San Francisco, CA 94143 USA.
[Nicolaidis, Christina; Raymaker, Dora] Acad Autism Spectrum Partnership Res & Educ, Portland, OR 97201 USA.
RP Nicolaidis, C (reprint author), Portland State Univ, Reg Res Inst, Sch Social Work, 1600 SW 4th Ave,Suite 900, Portland, OR 97201 USA.
EM nicol22@pdx.edu
FU National Institute of Mental Health [R34MH092503]
FX Many of the recommendations in this article arise from the AASPIRE
Healthcare Toolkit Project. Funding for the project was provided by the
National Institute of Mental Health (R34MH092503). We would like to
thank the many AASPIRE team members and study participants who have
contributed to the project.
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NR 62
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 0025-7125
EI 1557-9859
J9 MED CLIN N AM
JI Med. Clin. N. Am.
PD SEP
PY 2014
VL 98
IS 5
BP 1169
EP +
DI 10.1016/j.mcna.2014.06.011
PG 25
WC Medicine, General & Internal
SC General & Internal Medicine
GA AO8OO
UT WOS:000341614300015
PM 25134878
ER
PT J
AU Samocha, KE
Robinson, EB
Sanders, SJ
Stevens, C
Sabo, A
McGrath, LM
Kosmicki, JA
Rehnstrom, K
Mallick, S
Kirby, A
Wall, DP
MacArthur, DG
Gabriel, SB
DePristo, M
Purcell, SM
Palotie, A
Boerwinkle, E
Buxbaum, JD
Cook, EH
Gibbs, RA
Schellenberg, GD
Sutcliffe, JS
Devlin, B
Roeder, K
Neale, BM
Daly, MJ
AF Samocha, Kaitlin E.
Robinson, Elise B.
Sanders, Stephan J.
Stevens, Christine
Sabo, Aniko
McGrath, Lauren M.
Kosmicki, Jack A.
Rehnstrom, Karola
Mallick, Swapan
Kirby, Andrew
Wall, Dennis P.
MacArthur, Daniel G.
Gabriel, Stacey B.
DePristo, Mark
Purcell, Shaun M.
Palotie, Aarno
Boerwinkle, Eric
Buxbaum, Joseph D.
Cook, Edwin H., Jr.
Gibbs, Richard A.
Schellenberg, Gerard D.
Sutcliffe, James S.
Devlin, Bernie
Roeder, Kathryn
Neale, Benjamin M.
Daly, Mark J.
TI A framework for the interpretation of de novo mutation in human disease
SO NATURE GENETICS
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DNA-SEQUENCING DATA; INTELLECTUAL DISABILITY;
GENOME; PATTERNS; GENES; RATES
AB Spontaneously arising (de novo) mutations have an important role in medical genetics. For diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the signal from de novo mutations is distributed across many genes, making it difficult to distinguish disease-relevant mutations from background variation. Here we provide a statistical framework for the analysis of excesses in de novo mutation per gene and gene set by calibrating a model of de novo mutation. We applied this framework to de novo mutations collected from 1,078 ASD family trios, and, whereas we affirmed a significant role for loss-of-function mutations, we found no excess of de novo loss-of-function mutations in cases with IQ above 100, suggesting that the role of de novo mutations in ASDs might reside in fundamental neurodevelopmental processes. We also used our model to identify similar to 1,000 genes that are significantly lacking in functional coding variation in non-ASD samples and are enriched for de novo loss-of-function mutations identified in ASD cases.
C1 [Samocha, Kaitlin E.; Robinson, Elise B.; Kosmicki, Jack A.; Kirby, Andrew; MacArthur, Daniel G.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Kosmicki, Jack A.; Kirby, Andrew; MacArthur, Daniel G.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Harvard Univ, Sch Med, Boston, MA 02114 USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Stevens, Christine; Kirby, Andrew; MacArthur, Daniel G.; Gabriel, Stacey B.; Purcell, Shaun M.; Neale, Benjamin M.; Daly, Mark J.] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA.
[Samocha, Kaitlin E.; Robinson, Elise B.; Stevens, Christine; Neale, Benjamin M.; Daly, Mark J.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Samocha, Kaitlin E.] Harvard Univ, Sch Med, Program Genet & Gen Biol & Biomed Sci, Boston, MA USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA.
[Sanders, Stephan J.] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
[Sabo, Aniko; Boerwinkle, Eric; Gibbs, Richard A.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.
[McGrath, Lauren M.; Purcell, Shaun M.; Palotie, Aarno] Massachusetts Gen Hosp, Dept Psychiat, Psychiatr & Neurodev Genet Unit, Boston, MA 02114 USA.
[McGrath, Lauren M.; Purcell, Shaun M.; Palotie, Aarno] Harvard Univ, Sch Med, Boston, MA USA.
[Kosmicki, Jack A.; Wall, Dennis P.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA.
[Kosmicki, Jack A.; Wall, Dennis P.] Beth Israel Deaconess Med Ctr, Dept Pathol, Boston, MA 02215 USA.
[Rehnstrom, Karola; Palotie, Aarno] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.
[Rehnstrom, Karola; Palotie, Aarno] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England.
[Mallick, Swapan] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA.
[DePristo, Mark] Synapdx, Lexington, MA USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA.
[Purcell, Shaun M.; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA.
[Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA.
[Cook, Edwin H., Jr.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA.
[Schellenberg, Gerard D.] Univ Penn, Perelman Sch Med, Pathol & Lab Med, Philadelphia, PA USA.
[Sutcliffe, James S.] Vanderbilt Univ, Ctr Mol Neurosci, Nashville, TN 37235 USA.
[Devlin, Bernie] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA.
[Roeder, Kathryn] Carnegie Mellon Univ, Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA.
RP Daly, MJ (reprint author), Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.
EM mjdaly@atgu.mgh.harvard.edu
RI Sutcliffe, James/C-1348-2012
OI Sutcliffe, James/0000-0001-5200-6007
FU Autism Genetic Resource Exchange (AGRE) Consortium, a program of Autism
Speaks [1U24MH081810]; Autism Speaks; Simons Foundation; Autism
Consortium; US National Institutes of Health (NIH) [R01MH089208,
R01MH089025, R01MH089004, R01MH089175, R01MH089482, P50HD055751,
R01MH057881, R01MH061009]; Lung GO Sequencing Project [HL-102923];
Women's Health Initiative (WHI) Sequencing Project [HL-102924]; Broad GO
Sequencing Project [HL-102925]; Seattle GO Sequencing Project
[HL-102926]; Heart GO Sequencing Project [HL-103010]; [U54HG003273];
[U54HG003067]
FX All data from published studies are available in the respective
publications. All newly generated data and computational tools used in
this paper will be available online as downloadable material. We have
also constructed a website to query genes that provides information on
constraint and the de novo mutations found in the specified gene across
published studies of de novo mutation. We would like to thank E. Daly
and M. Chess for their contributions to data analysis and the
construction of the website, respectively. We acknowledge the following
resources and families who contributed to them: the National Institute
of Mental Health (NIMH) repository (U24MH068457); the Autism Genetic
Resource Exchange (AGRE) Consortium, a program of Autism Speaks
(1U24MH081810 to C.M. Lajonchere); The Autism Simplex Collection (TASC)
(grant from Autism Speaks); the Simons Foundation Autism Research
Initiative (SFARI) Simplex Collection (grant from the Simons
Foundation); and The Autism Consortium (grant from the Autism
Consortium). This work was directly supported by US National Institutes
of Health (NIH) grants R01MH089208 (M.J.D.), R01MH089025 (J.D.B.),
R01MH089004 (G.D.S.), R01MH089175 (R.A.G.) and R01MH089482 (J.S.S.) and
was supported in part by US NIH grants P50HD055751 (E.H.C.), R01MH057881
(B.D.) and R01MH061009 (J.S.S.). We acknowledge partial support from
grants U54HG003273 (R.A.G.) and U54HG003067 (E. Lander). We thank T.
Lehner (NIMH), A. Felsenfeld (National Human Genome Research Institute)
and P. Bender (NIMH) for their support and contribution to the project.
E.B., J.D.B., B.D., M.J.D., R.A.G., K. Roeder, A.S., G.D.S. and J.S.S.
are lead investigators in the ARRA Autism Sequencing Collaboration
(AASC). We would also like to thank the NHLBI GO Exome Sequencing
Project (ESP) and its ongoing studies that produced and provided exome
variant calls on the web: the Lung GO Sequencing Project (HL-102923),
the Women's Health Initiative (WHI) Sequencing Project (HL-102924), the
Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing
Project (HL-102926) and the Heart GO Sequencing Project (HL-103010).
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NR 25
TC 15
Z9 15
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1061-4036
EI 1546-1718
J9 NAT GENET
JI Nature Genet.
PD SEP
PY 2014
VL 46
IS 9
BP 944
EP +
DI 10.1038/ng.3050
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AO8CE
UT WOS:000341579400007
PM 25086666
ER
PT J
AU Cusmano, DM
Mong, JA
AF Cusmano, Danielle M.
Mong, Jessica A.
TI In Utero Exposure to Valproic Acid Changes Sleep in Juvenile Rats: A
Model for Sleep Disturbances in Autism
SO SLEEP
LA English
DT Article
DE autism spectrum disorders; sleep; valproic acid
ID CONTROLLED-RELEASE MELATONIN; BASAL FOREBRAIN NEURONS; MESSENGER-RNA
LEVELS; EYE-MOVEMENT SLEEP; SPECTRUM DISORDERS; ANIMAL-MODEL; PRENATAL
EXPOSURE; TYPICAL DEVELOPMENT; ASPERGERS-DISORDER; FUTURE-DIRECTIONS
AB Study Objectives: To determine whether sleep disturbances are found in the valproic acid model of autism spectrum disorders (ASD).
Design: Comparative study for sleep behavior, sleep architecture, electroencephalogram (EEG) spectral analysis, and glutamic acid decarboxylase (GAD) 65/67 protein expression in juvenile rats exposed to valproic acid (VPA), sodium salt, or saline in utero.
Setting: N/A. Participants: Juvenile (postnatal day 32) male and female Sprague-Dawley rats.
Interventions: In utero exposure to either saline or 400 mg/kg VPA administered intraperitoneally to the dams on gestational day 12.5. On postnatal days 22-24, all rats were implanted with transmitters to record EEG and electromyogram (EMG) activity.
Measurements and Results: During the light phase, when nocturnal animals are typically quiescent, the VPA-exposed animals spent significantly more time in wake (similar to 35 min) and significantly less time in non-rapid eye movement (NREM) sleep (similar to 26 min) compared to the saline controls. Furthermore, spectral analysis of the EEG reveled that VPA-exposed animals exhibited increased high-frequency activity during wake and rapid eye movement (REM) sleep and reduced theta power across all vigilance states. Interestingly, the gamma-aminobutyric acid (GABA)-ergic system, which modulates the induction and maintenance of sleep states, was also disrupted, with reduced levels of both GAD 65 and GAD67 in the cortical tissue of VPA-exposed animals compared to saline controls.
Conclusions: To date, the current animal models of ASD have been underutilized in the investigation of associated sleep disturbances. The VPA animal model recapitulates aspects of sleep disruptions reported clinically, providing a tool to investigate cellular and molecular dysregulation contributing to sleep disruptions in ASD.
C1 [Cusmano, Danielle M.; Mong, Jessica A.] Univ Maryland, Sch Med, Program Neurosci, Baltimore, MD 21201 USA.
[Cusmano, Danielle M.; Mong, Jessica A.] Univ Maryland, Sch Med, Dept Pharmacol, Baltimore, MD 21201 USA.
RP Cusmano, DM (reprint author), Univ Maryland, Sch Med, 655 W Baltimore St,BRB Room 4-027, Baltimore, MD 21201 USA.
EM dcusm001@umaryland.edu
FU DOD Research Program [AR080087]
FX This was not an industry supported study. Support was provided by a DOD
Research Program AR080087 awarded to Dr. Mong. The authors have
indicated no financial conflicts of interest.
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NR 112
TC 0
Z9 0
PU AMER ACAD SLEEP MEDICINE
PI WESTCHESTER
PA ONE WESTBROOK CORPORATE CTR, STE 920, WESTCHESTER, IL 60154 USA
SN 0161-8105
EI 1550-9109
J9 SLEEP
JI Sleep
PD SEP 1
PY 2014
VL 37
IS 9
BP 1489
EP 1499
DI 10.5665/sleep.3998
PG 11
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AO7DS
UT WOS:000341512900011
PM 25142574
ER
PT J
AU Zalla, T
Sirigu, A
Robic, S
Chaste, P
Leboyer, M
Coricelli, G
AF Zalla, Tiziana
Sirigu, Angela
Robic, Suzanne
Chaste, Pauline
Leboyer, Marion
Coricelli, Giorgio
TI Feelings of regret and disappointment in adults with high-functioning
autism
SO CORTEX
LA English
DT Article
DE Social cognition; Emotions; Alexithymia; Autism; Amygdala
ID DEVELOPMENTAL-DISORDERS; DIAGNOSTIC INTERVIEW; EMOTIONAL AWARENESS;
ASPERGERS-SYNDROME; SPECTRUM DISORDER; AMYGDALA THEORY; CHILDREN;
ALEXITHYMIA; SELF; MIND
AB Impairments in emotional processing in Autism Spectrum Disorders (ASDs) can be characterised by failure to generate and recognize self-reflective, cognitive-based emotions, such as pride, embarrassment and shame. Among this type of emotions, regret and disappointment, as well as their positive counterparts, result from a counterfactual comparison, that is the comparison between an actual value ("what is") and a fictive value ("what might have been"). However, while disappointment is experienced when the obtained outcome is worse than the expected outcome that might have occurred from the same choice, regret occurs when one experiences an outcome that is worse than the outcome of foregone choices. By manipulating a simple gambling task, we examined subjective reports on the intensity of negative and positive emotions in a group of adults with High-Functioning Autism or Asperger syndrome (HFA/AS), and a control group matched for age, gender and educational level. Participants were asked to choose between two lotteries with different levels of risk under two conditions of outcome feedback: (i) Partial, in which only the outcome of the chosen lottery was visible, (ii) Complete, in which the outcomes of the two lotteries were simultaneously visible. By comparing partial and complete conditions, we aimed to investigate the differential effect between disappointment and regret, as well as between their positive counterparts. Relative to the control participants (CP), the group with HFA/AS reported reduced regret and no difference between regret and disappointment, along with a preserved ability to use counterfactual thinking and similar choice behaviour. Difficulties to distinguish the feeling of regret in participants with HFA/AS can be explained by diminished emotional awareness, likely associated with an abnormal fronto-limbic connectivity. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Jean Nicod, Dept Etudes Cognit, Paris, France.
[Sirigu, Angela] CNRS, Ctr Neurosci Cognit, UMR 5229, Bron, France.
[Robic, Suzanne] Univ Lyon 1, CNRS UMR 5292, INSERM U1028, Lyon Neurosci Res Ctr,Brain Dynam & Cognit Team, F-69365 Lyon, France.
[Chaste, Pauline; Leboyer, Marion] Univ Paris Est Creteil, AP HP, Henri Mondor Albert Chenevier Hosp,IMRB,Dept Psyc, French Natl Sci Fdn,Fdn FondaMental,INSERM U 955, Creteil, France.
[Coricelli, Giorgio] Ecole Normale Super, Dept Etudes Cognit, INSERM U 960, Lab Neurosci Cognit, F-75231 Paris, France.
[Coricelli, Giorgio] Univ So Calif, Dept Econ, Los Angeles, CA 90089 USA.
RP Zalla, T (reprint author), Ecole Normale Super, CNRS, Inst Jean Nicod, 29 Rue Ulm, Paris, France.
EM tiziana.zalla@ens.fr
FU Fondation FondaMental; Fondation Orange
FX We gratefully acknowledge the commitment of the participants and their
families to the pursuit of research in autism. This research was
supported by Fondation FondaMental and Fondation Orange to TZ and ML.
The authors wish to thank Uta Frith for her helpful comments on
preliminary data.
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NR 51
TC 4
Z9 4
PU ELSEVIER MASSON
PI MILANO
PA VIA PALEOCAPA 7, 20121 MILANO, ITALY
SN 0010-9452
EI 1973-8102
J9 CORTEX
JI Cortex
PD SEP
PY 2014
VL 58
BP 112
EP 122
DI 10.1016/j.cortex.2014.05.008
PG 11
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AO6OA
UT WOS:000341470200010
PM 25010486
ER
PT J
AU Lamport, D
Zlomke, KR
AF Lamport, Dustin
Zlomke, Kimberly R.
TI The Broader Autism Phenotype, Social Interaction Anxiety, and
Loneliness: Implications for Social Functioning
SO CURRENT PSYCHOLOGY
LA English
DT Article
DE Broader autism phenotype; Social interaction anxiety; Loneliness; Social
functioning; Personality
ID SPECTRUM QUOTIENT AQ; PERSONALITY-DISORDERS; RELIABILITY; POPULATION;
SIBLINGS; VERSION; TRAITS; PHOBIA; HEALTH; FAMILY
AB Recent research has begun to focus on the subclinical presentation of autistic-like traits in individuals, a construct termed the broader autism phenotype (BAP). The presence of the BAP has been established in both first-degree relatives of individuals with autism as well as in the general population. The current study aimed to examine how self-reported BAP characteristics, social interaction anxiety, and fear of negative evaluation relate to social functioning (specifically, loneliness) in a sample of college students. Results showed that for all subjects, BAP, social interaction anxiety, and fear of negative evaluation did not predict loneliness in a regression model. However, for males these predictors accounted for approximately 48 % of the variance in loneliness scores. Among males, individuals rating themselves as having lower social skills, lower imagination, and higher social interaction anxiety were more likely to also report feeling lonely. These results indicate that the predictors used may function differently among males and females. Although BAP characteristics and social interaction anxiety may not be important correlates of social functioning for females in this sample, they appear to be very important for males' subjective feelings of loneliness.
C1 [Lamport, Dustin; Zlomke, Kimberly R.] Univ S Alabama, Dept Psychol, Mobile, AL 36688 USA.
RP Zlomke, KR (reprint author), 307 Univ Blvd North,UCOM 1000, Mobile, AL 36688 USA.
EM zlomke@southalabama.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 26
TC 0
Z9 0
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1046-1310
EI 1936-4733
J9 CURR PSYCHOL
JI Curr. Psychol.
PD SEP
PY 2014
VL 33
IS 3
BP 246
EP 255
DI 10.1007/s12144-014-9210-0
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA AO6AH
UT WOS:000341429200002
ER
PT J
AU Fannemel, M
Baroy, T
Holmgren, A
Rodningen, OK
Haugsand, TM
Hansen, B
Frengen, E
Misceo, D
AF Fannemel, Madeleine
Baroy, Tuva
Holmgren, Asbjorn
Rodningen, Olaug K.
Haugsand, Trine M.
Hansen, Borre
Frengen, Eirik
Misceo, Doriana
TI Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in
2p15, in a patient with mild intellectual disability and cranio-facial
dysmorphisms
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE Congenital anomalies; Dysmorphic features; Intellectual disability;
USP34; XPO1 or CRM1; 2p15p16.1 Deletion syndrome
ID RECOGNIZED MICRODELETION SYNDROME; MB DELETION; 2P15-P16.1; 2P15-16.1;
2P15P16.1; SPECTRUM; FEATURES; REGION
AB 2p15p16.1-deletion syndrome was first described in 2007 based on the clinical presentation of two patients. The syndrome is characterized by intellectual disability, autism spectrum disorders, microcephaly, dysmorphic facial features and a variety of congenital organ defects. The precise genotype-phenotype correlation in 2p15-deletion syndrome is not understood. However, greater insight can be obtained by thorough clinical investigation of patients carrying deletions, especially those of small size. We report a 21-year-old male patient with features overlapping the clinical spectrum of the 2p15p16.1-deletion syndrome, such as intellectual disability, dysmorphic facial features, and congenital defects. He carried a 230 kb de novo deletion (chr2:61500346-61733075 bp, hg19), which affects the genes USP34, SNORA70B and XPO1. While there is a lack of functional data on SNORA70B, the involvement of USP34 and XPO1 in the regulation of fundamental developmental processes is well known. We suggest that haploinsufficiency of one or both of these genes is likely to be responsible for the disease in our patient. (C) 2014 Elsevier Masson SAS. All rights reserved.
C1 [Fannemel, Madeleine; Baroy, Tuva; Holmgren, Asbjorn; Rodningen, Olaug K.; Frengen, Eirik; Misceo, Doriana] Univ Oslo, Dept Med Genet, N-0315 Oslo, Norway.
[Fannemel, Madeleine; Baroy, Tuva; Holmgren, Asbjorn; Rodningen, Olaug K.; Frengen, Eirik; Misceo, Doriana] Oslo Univ Hosp, Oslo, Norway.
[Haugsand, Trine M.; Hansen, Borre] Akershus Univ Hosp, Dept Adult Habilitat, Oslo, Norway.
RP Misceo, D (reprint author), Univ Oslo, Dept Med Genet, POB 1036, N-0315 Oslo, Norway.
EM uxmafa@ous-hf.no; tuva.baroy@medisin.uio.no;
asbjorn.holmgren@medisin.uio.no; uxrdol@ous-hf.no;
trine.haugsand@ahus.no; borre.hansen@ahus.no;
eirik.frengen@medisin.uio.no; doriana.misceo@medisin.uio.no
FU Southeastern Regional Health Authorities [2011071]; Ulleval University
Hospital Research Fund (VIRUUS); Anders Jahres fond til vitenskapens
fremme
FX We would like to thank the family for collaboration and contribution to
this project. We are grateful to Dr. William Louch for language revision
of the manuscript. This work was supported by a grant from the
Southeastern Regional Health Authorities (project no 2011071), Ulleval
University Hospital Research Fund (VIRUUS), and DM was supported by
"Anders Jahres fond til vitenskapens fremme".
CR Callanan M, 2000, J CELL SCI, V113, P451
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Xu HY, 2011, HUM MUTAT, V32, P1341, DOI 10.1002/humu.21601
NR 23
TC 1
Z9 1
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 SEP
PY 2014
VL 57
IS 9
BP 513
EP 519
DI 10.1016/j.ejmg.2014.05.008
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AO5DS
UT WOS:000341363100006
PM 24911659
ER
PT J
AU Rosello, M
Martinez, F
Monfort, S
Mayo, S
Oltra, S
Orellana, C
AF Rosello, Monica
Martinez, Francisco
Monfort, Sandra
Mayo, Sonia
Oltra, Silvestre
Orellana, Carmen
TI Phenotype profiling of patients with intellectual disability and copy
number variations
SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
LA English
DT Article
DE Intellectual disability; Array-CGH; Phenotype; Clinical database
ID COMPARATIVE GENOMIC HYBRIDIZATION; CLINICAL DIAGNOSTIC-TEST;
MENTAL-RETARDATION; CHROMOSOMAL MICROARRAY; ARRAY-CGH; SUBTELOMERIC
REARRANGEMENTS; DEVELOPMENTAL-DISABILITIES; DYSMORPHIC FEATURES;
AMERICAN-COLLEGE; IMBALANCES
AB Background: Nowadays the microarray technology allows whole-genome analysis with a high resolution and performance for the genetic diagnosis in any patient with intellectual disability or autism spectrum disorder. However in the immediate future, with the development of massive sequencing systems for application at clinical diagnosis, it will be necessary to have clinical criteria to guide studies.
Aim: To perform an exhaustive clinical definition of patients with pathogenic copy number variations in order to establish the clinical criteria most suggestive of this kind of genomic rearrangements.
Method: We designed and implemented a database to collect 190 different clinical variables (pregnancy, neonatal, facial dysmorphism, congenital anomalies, neurological features and family history) in a series of 246 patients, with developmental delay/intellectual disability. All cases were studied with array comparative genomic hybridization.
Results: We have found a pathogenic genomic imbalance in 73 patients. Frequency analysis of all clinical variables showed that growth disorder, abnormalities of hands, low-set ears and hypertelorism are the more frequent features among patients with genomic rearrangements. However other clinical features, such as genital abnormalities and aggressiveness, are more specifically associated with pathogenic copy number variations in spite of their low frequencies in the overall series, yielding higher statistical significance values than other traits.
Conclusions: The genotype phenotype comparison may be useful to set in the future the main clinical manifestations associated with deletions, duplications and unbalanced translocations. Theses analyses will improve the clinical indications and protocols to implement genomic arrays in the genetic study of patients with neurodevelopment disorders. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
C1 [Rosello, Monica; Martinez, Francisco; Monfort, Sandra; Mayo, Sonia; Oltra, Silvestre; Orellana, Carmen] Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Valencia 46009, Spain.
RP Rosello, M (reprint author), Hosp Univ & Politecn La Fe, Unidad Genet & Diagnost Prenatal, Ave Campanar 21, Valencia 46009, Spain.
EM rosello_mpi@gva.es
RI Monfort, Sandra/B-2860-2009; Rosello, Monica/B-2319-2009; Orellana,
Carmen/B-1925-2009; Oltra, Silvestre/A-2697-2009; Martinez,
Francisco/A-2543-2009
OI Rosello, Monica/0000-0001-9234-2953; Orellana,
Carmen/0000-0003-4271-5859; Oltra, Silvestre/0000-0001-6863-4382;
Martinez, Francisco/0000-0002-0589-2584
FU Instituto de Salud Carlos III [RD09/0076/00021]; Fundacion para la
Investigacion del Hospital La Fe/Fundacion Bancaja fellowship; Fundacion
Ramon Areces [PI 2009/0093]; National Public Agencies [PI04/0421,
PI08/0648]; Autonomics [AP-096/06, AP-138/11]
FX This work has been possible thanks to the collaboration of patients and
families, the health professionals who referred the patients, the staff
of the Genetics Unit of the Hospital Universitari i Politecnic "La Fe"
and the aid received through grants of private agencies (Fundacion Ramon
Areces PI 2009/0093) and National Public Agencies (PI04/0421, PI08/0648)
and Autonomics (AP-096/06, AP-138/11). This study was supported in part
by research funding from the "Instituto de Salud Carlos III" grant: "Red
de Biobancos Hospitalarios" (RD09/0076/00021). Sonia Mayo was supported
by the Fundacion para la Investigacion del Hospital La Fe/Fundacion
Bancaja fellowship.
CR Bans HN, 2007, AM J MED GENET A, V143A, P2523
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NR 26
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1090-3798
EI 1532-2130
J9 EUR J PAEDIATR NEURO
JI Eur. J. Paediatr. Neurol.
PD SEP
PY 2014
VL 18
IS 5
BP 558
EP 566
DI 10.1016/j.ejpn.2014.04.010
PG 9
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AO7SG
UT WOS:000341552300002
PM 24815074
ER
PT J
AU Moses, L
Katz, N
Weizman, A
AF Moses, L.
Katz, N.
Weizman, A.
TI Metabolic profiles in adults with autism spectrum disorder and
intellectual disabilities
SO EUROPEAN PSYCHIATRY
LA English
DT Article
DE Autism; Intellectual disabilities; Cholesterol; Glucose; Metabolic
profile
ID SERUM-CHOLESTEROL LEVEL; DOWNS-SYNDROME; ANTIPSYCHOTIC-DRUGS; LIPIDS;
LIPOPROTEINS; HYPERCHOLESTEROLEMIA; SCHIZOPHRENIA; HYPERTENSION;
ASSOCIATION; ADOLESCENTS
AB Introduction: Low levels of blood cholesterol have been found in some children with autism spectrum disorders (ASD). Psychotropic medications, commonly used by people with ASD and people with intellectual disabilities (ID) are frequently associated with altered metabolic profiles.
Purpose: We aimed to compare metabolic features of adults with ASD or ID with those of a community-based population.
Subjects and methods: Data on blood fasting glucose (FBG), lipid profile, liver enzyme profile, TSH, BMI, medications and diagnoses of 80 adults with ASD, 77 adults with ID and 828 control adults were drawn from medical charts/database. Candidates that used glucose or lipid lowering medications were not included.
Results: Total-cholesterol levels of people with ASD and ID were significantly lower than those of the controls (168.3 +/- 32.78, 168.2 +/- 32.91, 185.4 +/- 40.49 mg/dL, respectively, P < 0.001) but after adjusting for gender, age and BMI and using Bonferroni correction, the significance was lost. Compared to controls, ASD and ID had significantly lower FBG (by -14.45 +/- 1.81, -14.58 +/- 1.54 mg/dl, respectively; P < 0.001 for both) and liver enzymes, despite using psychotropic medications.
Discussion and conclusion: In contrast to other psychiatric patients receiving similar medications, people with ASD and ID have unaltered lipid profiles and lower glucose and liver enzyme levels compared to a community-based population. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Moses, L.] Minist Social Affairs & Social Serv, Div Intellectual & Dev Disabil, Hlth Serv, Jerusalem, Israel.
[Moses, L.] Maccabi Hlth Serv, South Dist, Israel.
[Katz, N.; Weizman, A.] Tel Aviv Univ, Petah Tikva & Sackler Fac Med, Geha Mental Hlth Ctr, IL-69978 Tel Aviv, Israel.
[Weizman, A.] Tel Aviv Univ, Sackler Fac Med, Felsenstein Med Res Ctr, Lab Biol Psychiat, Petah Tiqwa, Israel.
RP Moses, L (reprint author), Moshav Nir Hen 4, IL-79330 Rehovot, Israel.
EM lilachmoses@yahoo.com
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NR 31
TC 0
Z9 0
PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
PI PARIS
PA 23 RUE LINOIS, 75724 PARIS, FRANCE
SN 0924-9338
EI 1778-3585
J9 EUR PSYCHIAT
JI Eur. Psychiat.
PD SEP
PY 2014
VL 29
IS 7
BP 397
EP 401
DI 10.1016/j.eurpsy.2013.05.005
PG 5
WC Psychiatry
SC Psychiatry
GA AO5OR
UT WOS:000341395000001
PM 23849396
ER
PT J
AU Groskreutz, NC
Groskreutz, MP
Bloom, SE
Slocum, TA
AF Groskreutz, Nicole C.
Groskreutz, Mark P.
Bloom, Sarah E.
Slocum, Timothy A.
TI Generalization of negatively reinforced mands in children with autism
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; manding; functional communication; negative reinforcement;
stimulus generalization
ID FUNCTIONAL COMMUNICATION; PROBLEM BEHAVIOR; DEVELOPMENTAL-DISABILITIES
AB Each day, people encounter stimuli they find unpleasant. Some children with autism may require systematic instruction to acquire the communication skills necessary to request the termination of such aversive stimuli. We taught 2 school-aged boys with autism a mand (e.g., signing stop) that could be used to escape a variety of aversive stimuli. First, we employed a systematic assessment to identify aversive stimuli to use during training. We then conducted mand training sequentially across those stimuli until sufficient exemplars were trained for generalization to occur to untrained stimuli. For both participants, cross-stimulus generalization was observed after training with 2 stimuli. Participants manded for escape in the presence of aversive stimuli, but almost never manded in the presence of preferred stimuli or when the programmed stimuli were absent. In addition, we found an inverse relation between acquisition of the mand and engagement in problem behavior and evidence of generalization to nontraining contexts.
C1 [Groskreutz, Nicole C.; Bloom, Sarah E.; Slocum, Timothy A.] Utah State Univ, Logan, UT 84322 USA.
[Groskreutz, Mark P.] So Connecticut State Univ, New Haven, CT USA.
RP Slocum, TA (reprint author), Dept Special Educ & Rehabil, 2865 Old Main Hill, Logan, UT 84322 USA.
EM tim.slocum@usu.edu
CR Beavers GA, 2013, J APPL BEHAV ANAL, V46, P1, DOI 10.1002/jaba.30
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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 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 560
EP 579
DI 10.1002/jaba.151
PG 20
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100008
PM 25087550
ER
PT J
AU Rispoli, M
Camargo, S
Machalicek, W
Lang, R
Sigafoos, J
AF Rispoli, Mandy
Camargo, Siglia
Machalicek, Wendy
Lang, Russell
Sigafoos, Jeff
TI Functional communication training in the treatment of problem behavior
maintained by access to rituals
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; functional communication training; extinction; schedule
thinning; resurgence
ID AUTISM SPECTRUM DISORDER; OBSESSIVE-COMPULSIVE DISORDER; DIFFERENTIAL
REINFORCEMENT; CHALLENGING BEHAVIOR; DEVELOPMENTAL-DISABILITIES;
REPETITIVE BEHAVIORS; DESTRUCTIVE BEHAVIOR; ESCAPE BEHAVIOR; EXTINCTION;
INTERVENTION
AB This study evaluated the assessment and treatment of problem behaviors related to rituals for children with autism. After functional analyses, we used a multiple-probe design to examine the effects of functional communication training (FCT) plus extinction and schedule thinning as a treatment package for problem behavior and appropriate communication for 3 children. Results of the functional analyses suggested that problem behavior was maintained by reinstatement of the interrupted routine for all participants, and the treatment package reduced problem behavior. Generalization across activities was observed for 1 participant.
C1 [Rispoli, Mandy; Camargo, Siglia] Texas A&M Univ, College Stn, TX 77843 USA.
[Machalicek, Wendy] Univ Oregon, Eugene, OR 97403 USA.
[Lang, Russell] Texas State Univ, Clin Autism Res Evaluat & Support, Round Rock, TX 78655 USA.
[Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand.
RP Rispoli, M (reprint author), 4225 Texas A&M Univ, Dept Educ Psychol, College Stn, TX 77843 USA.
EM mrispoli@tamu.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Betz AM, 2013, J APPL BEHAV ANAL, V46, P219, DOI 10.1002/jaba.23
Boyd BA, 2012, J AUTISM DEV DISORD, V42, P1236, DOI 10.1007/s10803-011-1284-z
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Falcomata TS, 2013, J APPL BEHAV ANAL, V46, P444, DOI 10.1002/jaba.37
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Goldstein S, 2009, AUTISM SPECTRUM RATI
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Hagopian LP, 2007, J APPL BEHAV ANAL, V40, P89, DOI 10.1901/jaba.2007.63-05
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NR 40
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 580
EP 593
DI 10.1002/jaba.130
PG 14
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100009
PM 24817482
ER
PT J
AU Grow, LL
Kodak, T
Carr, JE
AF Grow, Laura L.
Kodak, Tiffany
Carr, James E.
TI A comparison of methods for teaching receptive labeling to children with
autism spectrum disorders: A systematic replication
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; conditional discrimination training; receptive language;
stimulus control
AB Previous research has demonstrated that the conditional-only method (starting with a multiple-stimulus array) is more efficient than the simple-conditional method (progressive incorporation of more stimuli into the array) for teaching receptive labeling to children with autism spectrum disorders (Grow, Carr, Kodak, Jostad, & Kisamore, ). The current study systematically replicated the earlier study by comparing the 2 approaches using progressive prompting with 2 boys with autism. The results showed that the conditional-only method was a more efficient and reliable teaching procedure than the simple-conditional method. The results further call into question the practice of teaching simple discriminations to facilitate acquisition of conditional discriminations.
C1 [Grow, Laura L.] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada.
[Kodak, Tiffany] Univ Oregon, Eugene, OR 97403 USA.
RP Grow, LL (reprint author), Dept Educ & Counselling Psychol & Special Educ, 2125 Main Mall, Vancouver, BC V6T 1Z4, Canada.
EM laura.grow@ubc.ca
CR DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
DOYLE PM, 1989, RES DEV DISABIL, V10, P349, DOI 10.1016/0891-4222(89)90036-X
Green G., 2001, FOCUS AUTISM OTHER D, V16, P72, DOI 10.1177/108835760101600203
Grow LL, 2011, J APPL BEHAV ANAL, V44, P475, DOI 10.1901/jaba.2011.44-475
Gutierrez A, 2009, RES AUTISM SPECT DIS, V3, P630, DOI 10.1016/j.rasd.2008.12.005
Johnston SS, 2009, AUGMENT ALTERN COMM, V25, P136, DOI 10.1080/07434610902921516
Lovaas O. I., 2003, TEACHING INDIVIDUALS
Love JR, 2009, RES AUTISM SPECT DIS, V3, P421, DOI 10.1016/j.rasd.2008.08.008
Martin G. L., 2000, J DEV DISABILITIES, V7, P10
NR 9
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 600
EP 605
DI 10.1002/jaba.141
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100011
PM 24902513
ER
PT J
AU Ward-Horner, JC
Pittenger, A
Pace, G
Fienup, DM
AF Ward-Horner, John C.
Pittenger, Alexis
Pace, Gary
Fienup, Daniel M.
TI Effects of reinforcer magnitude and distribution on preference for work
schedules
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE preference; choice; autism; concurrent-chains arrangements;
reinforcement magnitude
ID QUALITY
AB When the overall magnitude of reinforcement is matched between 2 alternative work schedules, some students prefer to complete all of their work for continuous access to a reinforcer (continuous work) rather than distributed access to a reinforcer while they work (discontinuous work). We evaluated a student's preference for continuous work by manipulating the overall magnitude of reinforcement associated with continuous work. Preference for continuous work persisted despite a 20% decrease in reinforcer magnitude; however, a 40% decrease in reinforcer magnitude produced a shift in preference to discontinuous work.
C1 [Ward-Horner, John C.] Beacon ABA Serv Inc, Milford, MA 01757 USA.
[Ward-Horner, John C.; Pittenger, Alexis; Pace, Gary] May Ctr Educ & Neurorehabil, Brockton, MA USA.
[Fienup, Daniel M.] CUNY Queens Coll, New York, NY USA.
RP Ward-Horner, JC (reprint author), Beacon ABA Serv Inc, 321 Fortune Blvd, Milford, MA 01757 USA.
EM wardhornerj@gmail.com
CR DeLeon I. G., 2014, J APPL BEHAV ANAL, V47
Fienup DM, 2011, J APPL BEHAV ANAL, V44, P847, DOI 10.1901/jaba.2011.44-847
Fisher WW, 1997, J APPL BEHAV ANAL, V30, P387, DOI 10.1901/jaba.1997.30-387
Hanley GP, 2005, J APPL BEHAV ANAL, V38, P51, DOI 10.1901/jaba.2005.6-04
Hanley GP, 1997, J APPL BEHAV ANAL, V30, P459, DOI 10.1901/jaba.1997.30-459
Hoch H, 2002, J APPL BEHAV ANAL, V35, P171, DOI 10.1901/jaba.2002.35-171
Mace FC, 1996, J APPL BEHAV ANAL, V29, P11, DOI 10.1901/jaba.1996.29-11
Roane HS, 1998, J APPL BEHAV ANAL, V31, P605, DOI 10.1901/jaba.1998.31-605
NR 8
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 623
EP 627
DI 10.1002/jaba.133
PG 5
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100015
PM 24825241
ER
PT J
AU Roane, HS
DeRosa, NM
AF Roane, Henry S.
DeRosa, Nicole M.
TI Reduction of emergent dropping behavior during treatment of elopement
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; dropping; elopement
ID RESPONSE-CLASS HIERARCHIES; COMMUNICATION; REINFORCERS; DISORDERS
AB Although treatments for elopement (leaving an assigned area or a caregiver without permission) and dropping (falling to the floor) have been reported in the literature, there are no studies that have examined the concurrent treatment of these behaviors. The current investigation reports on the emergence and treatment of dropping during the treatment of elopement.
C1 [Roane, Henry S.; DeRosa, Nicole M.] SUNY Upstate Med Univ, Syracuse, NY 13210 USA.
RP Roane, HS (reprint author), Dept Pediat, 600 E Genesee St,Suite 130, Syracuse, NY 13202 USA.
EM roaneh@upstate.edu
CR Anderson C, 2012, PEDIATRICS, V130, P870, DOI 10.1542/peds.2012-0762
Betz AM, 2013, J APPL BEHAV ANAL, V46, P219, DOI 10.1002/jaba.23
Bowman LG, 1997, J APPL BEHAV ANAL, V30, P451, DOI 10.1901/jaba.1997.30-451
DeLeon IG, 1996, J APPL BEHAV ANAL, V29, P519, DOI 10.1901/jaba.1996.29-519
DeRosa NM, 2013, J DEV PHYS DISABIL, V25, P119, DOI 10.1007/s10882-012-9312-2
FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491
FRIMAN PC, 1987, J APPL BEHAV ANAL, V20, P421, DOI 10.1901/jaba.1987.20-421
Hagopian LP, 2003, BEHAV INTERVENT, V18, P291, DOI 10.1002/bin.140
HERBERT EW, 1973, J APPL BEHAV ANAL, V6, P15
Lalli JS, 1995, J APPL BEHAV ANAL, V28, P551, DOI 10.1901/jaba.1995.28-551
Lieving GA, 2004, PSYCHOL REC, V54, P621
Mace FC, 2011, J APPL BEHAV ANAL, V44, P83, DOI 10.1901/jaba.2011.44-83
Richman DM, 1999, J APPL BEHAV ANAL, V32, P269, DOI 10.1901/jaba.1999.32-269
SAJWAJ T, 1972, J APPL BEHAV ANAL, V5, P163, DOI 10.1901/jaba.1972.5-163
NR 14
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 633
EP 638
DI 10.1002/jaba.136
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100017
PM 24825372
ER
PT J
AU Brodhead, MT
Higbee, TS
Pollard, JS
Akers, JS
Gerencser, KR
AF Brodhead, Matthew T.
Higbee, Thomas S.
Pollard, Joy S.
Akers, Jessica S.
Gerencser, Kristina R.
TI The use of linked activity schedules to teach children with autism to
play hide-and-seek
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE activity schedules; autism; social interactions
AB Linked activity schedules were used to establish appropriate game play in children with autism during a game of hide-and-seek. All 6 participants demonstrated acquisition of appropriate play skills in the presence of the activity schedules and maintained responding during subsequent phases. When the schedules were removed, responding decreased to baseline levels, demonstrating that the schedules controlled responding. Implications for future research on the use of activity schedules to teach social behavior are discussed.
C1 [Brodhead, Matthew T.; Higbee, Thomas S.; Pollard, Joy S.; Akers, Jessica S.; Gerencser, Kristina R.] Utah State Univ, Logan, UT 84332 USA.
RP Higbee, TS (reprint author), Utah State Univ, 2865 Old Main Hill, Logan, UT 84332 USA.
EM tom.higbee@usu.edu
CR Betz A, 2008, J APPL BEHAV ANAL, V41, P237, DOI 10.1901/jaba.2008.41-237
Cooper J. O., 2007, APPL BEHAV ANAL
Koyama T, 2011, RES DEV DISABIL, V32, P2235, DOI 10.1016/j.ridd.2011.05.003
MACDUFF GS, 1993, J APPL BEHAV ANAL, V26, P89, DOI 10.1901/jaba.1993.26-89
McClannahan L. E., 1999, ACTIVITY SCHEDULES C
NR 5
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 645
EP 650
DI 10.1002/jaba.145
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100019
PM 24905481
ER
PT J
AU Hoffman, K
Falcomata, TS
AF Hoffman, Katherine
Falcomata, Terry S.
TI An evaluation of resurgence of appropriate communication in individuals
with autism who exhibit severe problem behavior
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE autism; clinical relapse; mands; problem behavior; resurgence
ID EXTINCTION
AB We evaluated resurgence of mands exhibited by 3 individuals with autism and histories of problem behavior. The experimental conditions consisted of (a) reinforcement of a mand, (b) extinction, (c) reinforcement of a 2nd mand, and (d) extinction to test for resurgence of the 1st mand. This 4-component sequence was implemented 3 times with each participant, and resurgence occurred during 8 of 9 tests for resurgence. Results are discussed in terms of implications for the prevention of clinical relapse.
C1 Univ Texas Austin, Austin, TX 78712 USA.
RP Falcomata, TS (reprint author), Univ Texas Austin, Dept Special Educ, 1 Univ Stn D5300, Austin, TX 78712 USA.
EM falcomata@mail.utexas.edu
CR Bruzek JL, 2009, J EXP ANAL BEHAV, V92, P327, DOI 10.1901/jeab.2009-92-327
EPSTEIN R, 1983, BEHAV ANAL LETT, V3, P391
Lieving GA, 2003, J EXP ANAL BEHAV, V80, P217, DOI 10.1901/jeab.2003.80-217
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Reed P, 2006, J EXP ANAL BEHAV, V86, P307, DOI 10.1901/jeab.2006.20-05
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Volkert VM, 2009, J APPL BEHAV ANAL, V42, P145, DOI 10.1901/jaba.2009.42-145
Wacker DP, 2011, J EXP ANAL BEHAV, V96, P261, DOI 10.1901/jeab.2011.96-261
NR 9
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 651
EP 656
DI 10.1002/jaba.144
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100020
PM 24910326
ER
PT J
AU Majdalany, LM
Wilder, DA
Greif, A
Mathisen, D
Saini, V
AF Majdalany, Lina M.
Wilder, David A.
Greif, Abigail
Mathisen, David
Saini, Valdeep
TI Comparing massed-trial instruction, distributed-trial instruction, and
task interspersal to teach tacts to children with autism spectrum
disorders
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE discrete-trial instruction; autism spectrum disorders; skill acquisition
AB Although massed-trial instruction, distributed-trial instruction, and task interspersal have been shown to be effective methods of teaching skills to children with autism spectrum disorders, they have not been directly compared. In the current study, we taught 6 children to tact shapes of countries using these methods to determine which would result in the quickest acquisition. Five of the 6 participants acquired the targets in the massed-trial condition before the other 2 conditions.
C1 Florida Inst Technol, Melbourne, FL 32901 USA.
RP Wilder, DA (reprint author), Florida Inst Technol, Sch Behav Anal, 150 West Univ Blvd, Melbourne, FL 32901 USA.
EM dawilder@fit.edu
CR Bambara L. M., 1993, STRATEGIES TEACHING, P165
Chiara L, 1995, J EARLY INTERVENTION, V19, P203
Sundberg M. L., 2008, VB MAPP VERBAL BEHAV
Volkert VM, 2008, J APPL BEHAV ANAL, V41, P335, DOI 10.1901/jaba.2008.41-335
NR 4
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 657
EP 662
DI 10.1002/jaba.149
PG 6
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100021
PM 24988891
ER
PT J
AU Sham, E
Smith, T
AF Sham, Elyssa
Smith, Tristram
TI Publication bias in studies of an applied behavior-analytic
intervention: An initial analysis
SO JOURNAL OF APPLIED BEHAVIOR ANALYSIS
LA English
DT Article
DE publication bias; behavior analysis; single-subject research; autism;
pivotal response treatment
AB Publication bias arises when studies with favorable results are more likely to be reported than are studies with null findings. If this bias occurs in studies with single-subject experimental designs (SSEDs) on applied behavior-analytic (ABA) interventions, it could lead to exaggerated estimates of intervention effects. Therefore, we conducted an initial test of bias by comparing effect sizes, measured by percentage of nonoverlapping data (PND), in published SSED studies (n=21) and unpublished dissertations (n=10) on 1 well-established intervention for children with autism, pivotal response treatment (PRT). Although published and unpublished studies had similar methodologies, the mean PND in published studies was 22% higher than in unpublished studies, 95% confidence interval (4%, 38%). Even when unpublished studies are included, PRT appeared to be effective (PNDM=62%). Nevertheless, the disparity between published and unpublished studies suggests a need for further assessment of publication bias in the ABA literature.
C1 [Sham, Elyssa; Smith, Tristram] Univ Rochester, Med Ctr, Rochester, NY 14642 USA.
RP Smith, T (reprint author), Univ Rochester, Div Neurodev & Behav Pediat, Dept Pediat, Med Ctr, 601 Elmwood Ave,Box 671, Rochester, NY 14642 USA.
EM Tristram_Smith@URMC.Rochester.edu
NR 0
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-8855
EI 1938-3703
J9 J APPL BEHAV ANAL
JI J. Appl. Behav. Anal.
PD FAL
PY 2014
VL 47
IS 3
BP 663
EP 678
DI 10.1002/jaba.146
PG 16
WC Psychology, Clinical
SC Psychology
GA AO7EE
UT WOS:000341514100022
PM 24990802
ER
PT J
AU Uppal, N
Wicinski, B
Buxbaum, JD
Heinsen, H
Schmitz, C
Hof, PR
AF Uppal, Neha
Wicinski, Bridget
Buxbaum, Joseph D.
Heinsen, Helmut
Schmitz, Christoph
Hof, Patrick R.
TI Neuropathology of the Anterior Midcingulate Cortex in Young Children
With Autism
SO JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
LA English
DT Article
DE Anterior cingulate cortex; Anterior midcingulate cortex; Autism;
Neuropathology; Stereology; von Economo neuron
ID VON ECONOMO NEURONS; POSITRON-EMISSION-TOMOGRAPHY; CINGULATE CORTEX;
PREFRONTAL CORTEX; PYRAMIDAL NEURONS; CEREBRAL-CORTEX; WHITE-MATTER;
SPECTRUM DISORDER; COGNITIVE CONTROL; RHESUS-MONKEY
AB The anterior cingulate cortex, which is involved in cognitive and affective functioning, is important in investigating disorders in which individuals exhibit impairments in higher-order functions. In this study, we examined the anterior midcingulate cortex (aMCC) at the cellular level in patients with autism and in controls. We focused our analysis on layer V of the aMCC because it contains von Economo neurons, specialized cells thought to be involved in emotional expression and focused attention. Using a stereologic approach, we determined whether there were neuropathologic changes in von Economo neuron number, pyramidal neuron number, or pyramidal neuron size between diagnostic groups. When the groups were subdivided into young children and adolescents, pyramidal neuron and von Economo neuron numbers positively correlated with autism severity in young children, as measured by the Autism Diagnostic Interview-Revised. Young children with autism also had significantly smaller pyramidal neurons than their matched controls. Because the aMCC is involved in decision-making during uncertain situations, decreased pyramidal neuron size may reflect a potential reduction in the functional connectivity of the aMCC.
C1 [Uppal, Neha; Wicinski, Bridget; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA.
[Uppal, Neha; Wicinski, Bridget; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Uppal, Neha; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
[Uppal, Neha; Buxbaum, Joseph D.; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Heinsen, Helmut] Univ Wurzburg, Dept Psychiat, Morphol Brain Res Unit, Wurzburg, Germany.
[Schmitz, Christoph] Univ Munich, Dept Neuroanat, Munich, Germany.
RP Hof, PR (reprint author), Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, One Gustave L Levy Pl,Box 1639, New York, NY 10029 USA.
EM patrick.hof@mssm.edu
FU Seaver Foundation; Autism Speaks (Autism Celloidin Library); James S.
McDonnell Foundation; Simons Foundation
FX This work was supported by the Seaver Foundation (NU, JDB, PRH), Autism
Speaks (Autism Celloidin Library, PRH), the James S. McDonnell
Foundation (PRH), and the Simons Foundation (PRH, JDB).
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NR 83
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0022-3069
EI 1554-6578
J9 J NEUROPATH EXP NEUR
JI J. Neuropathol. Exp. Neurol.
PD SEP
PY 2014
VL 73
IS 9
BP 891
EP 902
PG 12
WC Clinical Neurology; Neurosciences; Pathology
SC Neurosciences & Neurology; Pathology
GA AO5PW
UT WOS:000341398300008
PM 25101703
ER
PT J
AU Reynolds, LC
Inder, TE
Neil, JJ
Pineda, RG
Rogers, CE
AF Reynolds, L. C.
Inder, T. E.
Neil, J. J.
Pineda, R. G.
Rogers, C. E.
TI Maternal obesity and increased risk for autism and developmental delay
among very preterm infants
SO JOURNAL OF PERINATOLOGY
LA English
DT Article
ID LOW-BIRTH-WEIGHT; BODY-MASS INDEX; NEURODEVELOPMENTAL OUTCOMES; MODIFIED
CHECKLIST; GESTATIONAL-AGE; DISORDERS; CHILDREN; BORN; PREPREGNANCY;
IMPAIRMENT
AB OBJECTIVE: Thirty-five percent of women of child-bearing age are obese, and there is evidence that maternal obesity may increase the risk for adverse neurodevelopmental outcome. However, research regarding obesity and neurodevelopment among children born preterm is limited. This study aimed to determine associations between maternal obesity and neurodevelopment in very preterm children at age 2 years.
STUDY DESIGN: Maternal/infant dyads (n=62) born <= 30 weeks gestation were enrolled in a prospective cohort study at a level-III neonatal intensive care unit. Mothers were classified as obese or non-obese based on pre-pregnancy body mass index. Infants underwent magnetic resonance imaging at term equivalent and developmental testing at age 2. Maternal obesity was investigated for associations with neurodevelopment.
RESULT: Maternal obesity was associated with positive screen for autism (odds ratio = 9.88, P=0.002) and lower composite language scores (beta = -9.36, (confidence interval = -15.11, -3.61), P=0.002).
CONCLUSION: Maternal obesity was associated with adverse neurodevelopmental outcome at age 2 in this cohort of very preterm children. This study requires replication, but may support targeted surveillance of infants born to women with maternal obesity.
C1 [Reynolds, L. C.; Rogers, C. E.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
[Reynolds, L. C.; Inder, T. E.; Pineda, R. G.; Rogers, C. E.] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA.
[Inder, T. E.; Neil, J. J.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA.
[Inder, T. E.; Neil, J. J.] Washington Univ, Sch Med, Dept Radiol, St Louis, MO 63110 USA.
[Pineda, R. G.] Washington Univ, Sch Med, Program Occupat Therapy, St Louis, MO 63110 USA.
RP Reynolds, LC (reprint author), Washington Univ, Sch Med, Dept Pediat, Campus Box 8116 660 S Euclid Ave, St Louis, MO 63110 USA.
EM reynoldsL@wusm.wustl.edu
FU National Institute of Health [ROI HD 057098]; Doris Duke Foundation;
Washington University Intellectual and Developmental Disabilities
Research Center [NIH/NICHD P30 HD062171]; National Center for Advancing
Translational Sciences [UL1 TR000448, KL2 TR000450]
FX We wish to acknowledge Karen Lukas RN (Washington University School of
Medicine), Anthony Barton (Washington University School of Medicine),
Jessica Conners (Washington University School of Medicine), Dimitrios
Alexopolous MS (Washington University School of Medicine), Joe Ackerman,
Jr (Washington University School of Medicine), Claudine Vavasseur MD
(National Maternity Hospital, Dublin Ireland) and Han Tjoeng MD
(University of Hawaii) who obtained informed consents and conducted
patient-oriented responsibilities to support the success of this
project. We also wish to thank all the families whose infants
participated in this study. This project was supported by the National
Institute of Health (ROI HD 057098), the Doris Duke Foundation, the
Washington University Intellectual and Developmental Disabilities
Research Center (NIH/NICHD P30 HD062171), and the UL1 TR000448, sub
award KL2 TR000450 from the National Center for Advancing Translational
Sciences.
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NR 48
TC 2
Z9 2
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 0743-8346
EI 1476-5543
J9 J PERINATOL
JI J. Perinatol.
PD SEP
PY 2014
VL 34
IS 9
BP 688
EP 692
DI 10.1038/jp.2014.80
PG 5
WC Obstetrics & Gynecology; Pediatrics
SC Obstetrics & Gynecology; Pediatrics
GA AO5RS
UT WOS:000341403600009
PM 24811227
ER
PT J
AU Daly, MB
Pilarski, R
Axilbund, JE
Buys, SS
Crawford, B
Friedman, S
Garber, JE
Horton, C
Kaklamani, V
Klein, C
Kohlmann, W
Kurian, A
Litton, J
Madlensky, L
Marcom, PK
Merajver, SD
Offit, K
Pal, T
Pasche, B
Reiser, G
Shannon, KM
Swisher, E
Voian, NC
Weitzel, JN
Whelan, A
Wiesner, GL
Dwyer, MA
Kumar, R
AF Daly, Mary B.
Pilarski, Robert
Axilbund, Jennifer E.
Buys, Saundra S.
Crawford, Beth
Friedman, Susan
Garber, Judy E.
Horton, Carolyn
Kaklamani, Virginia
Klein, Catherine
Kohlmann, Wendy
Kurian, Allison
Litton, Jennifer
Madlensky, Lisa
Marcom, P. Kelly
Merajver, Sofia D.
Offit, Kenneth
Pal, Tuya
Pasche, Boris
Reiser, Gwen
Shannon, Kristen Mahoney
Swisher, Elizabeth
Voian, Nicoleta C.
Weitzel, Jeffrey N.
Whelan, Alison
Wiesner, Georgia L.
Dwyer, Mary A.
Kumar, Rashmi
TI Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version
1.2014
SO JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
LA English
DT Article
ID HAMARTOMA-TUMOR-SYNDROME; RILEY-RUVALCABA-SYNDROME; REVISED
DIAGNOSTIC-CRITERIA; AUTISM SPECTRUM DISORDERS; LHERMITTE-DUCLOS
DISEASE; GERMLINE PTEN MUTATIONS; SYNDROME PLEASE STAND;
COWDEN-SYNDROME; CANCER; GENE
AB During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.
C1 [Daly, Mary B.] Fox Chase Canc Ctr, Philadelphia, PA 19111 USA.
[Pilarski, Robert] Ohio State Univ, Ctr Comprehens Canc, James Canc Hosp, Columbus, OH 43210 USA.
[Pilarski, Robert] Ohio State Univ, Solove Res Inst, Columbus, OH 43210 USA.
[Axilbund, Jennifer E.] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Sidney, BC, Canada.
[Buys, Saundra S.] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
[Crawford, Beth] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA USA.
[Garber, Judy E.] Dana Farber Brigham & Womens Canc Ctr, Boston, MA USA.
[Horton, Carolyn] Univ Tennessee, Hlth Sci Ctr, St Jude Childrens Res Hosp, Knoxville, TN 37996 USA.
[Kaklamani, Virginia] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Evanston, IL 60208 USA.
[Klein, Catherine] Univ Colorado, Ctr Canc, Boulder, CO 80309 USA.
[Kohlmann, Wendy] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
[Kurian, Allison] Stanford Canc Inst, Stanford, CA USA.
[Litton, Jennifer] Univ Texas MD Anderson Canc Ctr, Houston, TX USA.
[Madlensky, Lisa] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA USA.
[Marcom, P. Kelly] Duke Canc Inst, Durham, NC USA.
[Merajver, Sofia D.] Univ Michigan, Ctr Comprehens Canc, Ann Arbor, MI 48109 USA.
[Offit, Kenneth] Mem Sloan Kettering Canc Ctr, New York, NY USA.
[Pal, Tuya] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA.
[Pasche, Boris] Univ Alabama Birmingham, Ctr Comprehens Canc, Birmingham, AL USA.
[Reiser, Gwen] Nebraska Med Ctr, Fred & Pamela Buffett Canc Ctr, Omaha, NE USA.
[Shannon, Kristen Mahoney] Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA.
[Swisher, Elizabeth] Univ Washington, Seattle Canc Care Alliance, Seattle, WA 98195 USA.
[Voian, Nicoleta C.] Roswell Pk Canc Inst, Buffalo, NY USA.
[Weitzel, Jeffrey N.] City Hope Comprehens Canc Ctr, Duarte, CA USA.
[Whelan, Alison] Barnes Jewish Hosp, Siteman Canc Ctr, St Louis, MO USA.
[Whelan, Alison] Washington Univ, Sch Med, St Louis, MO 63130 USA.
[Wiesner, Georgia L.] Vanderbilt Ingram Canc Ctr, Nashville, TN USA.
RP Daly, MB (reprint author), Fox Chase Canc Ctr, Philadelphia, PA 19111 USA.
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NR 46
TC 5
Z9 5
PU HARBORSIDE PRESS
PI COLD SPRING HARBOR
PA 37 MAIN ST, COLD SPRING HARBOR, NY 11724 USA
SN 1540-1405
EI 1540-1413
J9 J NATL COMPR CANC NE
JI J. Natl. Compr. Cancer Netw.
PD SEP
PY 2014
VL 12
IS 9
BP 1326
EP 1338
PG 13
WC Oncology
SC Oncology
GA AO4ZM
UT WOS:000341349900011
PM 25190698
ER
PT J
AU Gipson, TT
Gerner, G
Srivastava, S
Poretti, A
Vaurio, R
Hartman, A
Johnston, MV
AF Gipson, Tanjala T.
Gerner, Gwendolyn
Srivastava, Siddharth
Poretti, Andrea
Vaurio, Rebecca
Hartman, Adam
Johnston, Michael V.
TI Early Neurodevelopmental Screening in Tuberous Sclerosis Complex: A
Potential Window of Opportunity
SO PEDIATRIC NEUROLOGY
LA English
DT Article
DE development; tuberous sclerosis; vigabatrin; everolimus; sirolimus;
cognition; Capute Scales; mTOR inhibitors
ID INFANTILE SPASMS; EPILEPSY; ONSET; COUNT; RECOMMENDATIONS; POPULATION;
SEVERITY
AB BACKGROUND: Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. METHOD: During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. RESULTS: Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. CONCLUSION: Many risk factors have been associated with intellectual disability and/or autism in individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes.
C1 [Gipson, Tanjala T.; Gerner, Gwendolyn; Johnston, Michael V.] Kennedy Krieger Inst, Tuberous Sclerosis Clin, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Gerner, Gwendolyn; Srivastava, Siddharth; Johnston, Michael V.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Gerner, Gwendolyn; Johnston, Michael V.] Kennedy Krieger Inst, Clin Trials Unit, Hugo W Moser Res Inst Inc, Baltimore, MD 21205 USA.
[Gipson, Tanjala T.; Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA.
[Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA.
[Johnston, Michael V.] Johns Hopkins Univ, Sch Med, Dept Phys Med & Rehabil, Baltimore, MD USA.
[Poretti, Andrea] Johns Hopkins Univ, Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Sect Pediat Neuroradiol,Div Pediat Radiol, Baltimore, MD USA.
[Vaurio, Rebecca] Kennedy Krieger Inst, Dept Neuropsychol, Baltimore, MD 21205 USA.
[Vaurio, Rebecca] Johns Hopkins Univ, Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD 21205 USA.
[Hartman, Adam] Johns Hopkins Univ, Sch Med, Dept Neurol, John M Freeman Pediat Epilepsy Ctr, Baltimore, MD 21205 USA.
RP Gipson, TT (reprint author), Kennedy Krieger Inst, Dept Neurol & Dev Med, 707 N Broadway, Baltimore, MD 21205 USA.
EM tsclinic@kennedykrieger.org
FU National Institute of Neurological Disorders and Stroke
[2K12NS001696-11A1]; National Institute of Child Health and Human
Development [5T32HD007414-18]; Novartis Pharmaceuticals; Novartis
FX T.T.G. received grant 2K12NS001696-11A1 from the National Institute of
Neurological Disorders and Stroke and G.G. received grant
5T32HD007414-18 from the National Institute of Child Health and Human
Development. T.T.G. and M.V.J. are participating as investigators in a
clinical trial of everolimus developed and sponsored by Novartis
Pharmaceuticals. Funds are provided to Kennedy Krieger Institute by
Novartis for research costs associated with this trial.
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NR 24
TC 0
Z9 0
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0887-8994
EI 1873-5150
J9 PEDIATR NEUROL
JI Pediatr. Neurol.
PD SEP
PY 2014
VL 51
IS 3
BP 398
EP 402
DI 10.1016/j.pediatrneurol.2014.04.028
PG 5
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AO4TT
UT WOS:000341335000018
PM 25160545
ER
PT J
AU Moeschler, JB
Shevell, M
AF Moeschler, John B.
Shevell, Michael
TI Comprehensive Evaluation of the Child With Intellectual Disability or
Global Developmental Delays
SO PEDIATRICS
LA English
DT Article
ID COMPARATIVE GENOMIC HYBRIDIZATION; LINKED MENTAL-RETARDATION; COPY
NUMBER VARIANTS; MAGNETIC-RESONANCE SPECTROSCOPY;
QUALITY-STANDARDS-SUBCOMMITTEE; AUTISM SPECTRUM DISORDERS; CHROMOSOMAL
MICROARRAY; MECP2 MUTATIONS; DYSMORPHIC FEATURES; PRACTICE-COMMITTEE
AB Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
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NR 91
TC 3
Z9 3
PU AMER ACAD PEDIATRICS
PI ELK GROVE VILLAGE
PA 141 NORTH-WEST POINT BLVD,, ELK GROVE VILLAGE, IL 60007-1098 USA
SN 0031-4005
EI 1098-4275
J9 PEDIATRICS
JI Pediatrics
PD SEP
PY 2014
VL 134
IS 3
BP E903
EP E918
DI 10.1542/peds.2014-1839
PG 16
WC Pediatrics
SC Pediatrics
GA AO5DN
UT WOS:000341362600037
PM 25157020
ER
PT J
AU McIntosh, LG
Park, S
AF McIntosh, Lindsey G.
Park, Sohee
TI Social trait judgment and affect recognition from static faces and video
vignettes in schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Affect recognition; Social judgment; Social cognition; Nonverbal
behavior; Thin slices
ID THIN SLICES; SPECTRUM DISORDERS; NONVERBAL BEHAVIOR; PERCEPTION;
COGNITION; AUTISM; INFORMATION; PSYCHOSIS; BRAIN; SCALE
AB Social impairment is a core feature of schizophrenia, present from the pre-morbid stage and predictive of outcome, but the etiology of this deficit remains poorly understood. Successful and adaptive social interactions depend on one's ability to make rapid and accurate judgments about others in real time. Our surprising ability to form accurate first impressions from brief exposures, known as "thin slices" of behavior has been studied very extensively in healthy participants. We sought to examine affect and social trait judgment from thin slices of static or video stimuli in order to investigate the ability of schizophrenic individuals to form reliable social impressions of others. 21 individuals with schizophrenia (SZ) and 20 matched healthy participants (HC) were asked to identify emotions and social traits for actors in standardized face stimuli as well as brief video clips. Sound was removed from videos to remove all verbal cues. Clinical symptoms in SZ and delusional ideation in both groups were measured. Results showed a general impairment in affect recognition for both types of stimuli in SZ. However, the two groups did not differ in the judgments of trustworthiness, approachability, attractiveness, and intelligence. Interestingly, in SZ, the severity of positive symptoms was correlated with higher ratings of attractiveness, trustworthiness, and approachability. Finally, increased delusional ideation in SZwas associated with a tendency to rate others as more trustworthy, while the opposite was true for HC. These findings suggest that complex social judgments in SZ are affected by symptomatology. (C) 2014 Elsevier B.V. All rights reserved.
C1 [McIntosh, Lindsey G.; Park, Sohee] Vanderbilt Univ, Dept Psychol, Nashville, TN 37240 USA.
[Park, Sohee] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37240 USA.
RP Park, S (reprint author), Vanderbilt Univ, Dept Psychol, 111 21st Ave South,301 Wilson Hall, Nashville, TN 37240 USA.
EM sohee.park@vanderbilt.edu
FU NIMH [R01MH073028]; NICHD [P30HD15052]
FX This work was supported in part by NIMH R01MH073028 and NICHD P30HD15052
to Vanderbilt University. The content is solely the responsibility of
the authors and does not necessarily represent the official views of the
NIMH or the National Institutes of Health.
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TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 170
EP 175
DI 10.1016/j.schres.2014.06.026
PG 6
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800028
PM 25037526
ER
PT J
AU Merikangas, AK
Segurado, R
Cormican, P
Heron, EA
Anney, RJL
Moore, S
Kelleher, E
Hargreaves, A
Anderson-Schmidt, H
Gill, M
Gallagher, L
Corvin, A
AF Merikangas, Alison K.
Segurado, Ricardo
Cormican, Paul
Heron, Elizabeth A.
Anney, Richard J. L.
Moore, Susan
Kelleher, Eric
Hargreaves, April
Anderson-Schmidt, Heike
Gill, Michael
Gallagher, Louise
Corvin, Aiden
TI The phenotypic manifestations of rare CNVs in schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Schizophrenia; CNV; Copy number variation; Paternal age; Family history;
Phenotype
ID COPY NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DOMAIN CRITERIA RDOC;
PATERNAL-AGE; BIPOLAR DISORDER; RISK-FACTOR; GENES; POPULATION;
MUTATIONS; MICRODELETIONS
AB There is compelling evidence for the role of copy number variants (CNVs) in schizophrenia susceptibility, and it has been estimated that up to 2-3% of schizophrenia cases may carry rare CNVs. Despite evidence that these events are associated with an increased risk across categorical neurodevelopmental disorders, there is limited understanding of the impact of CNVs on the core features of disorders like schizophrenia. Our objective was to evaluate associations between rare CNVs in differentially brain expressed (BE) genes and the core features and clinical correlates of schizophrenia. The sample included 386 cases of Irish ancestry with a diagnosis of schizophrenia, at least one rare CNV impacting any gene, and a core set of phenotypicmeasures. Statistically significant associations between deletions in differentially BE genes were found for family history of mental illness (decreased prevalence of all CNVs and deletions, unadjusted and adjusted) and for paternal age (increase in deletions only, unadjusted, among those with later ages at birth of patient). The strong effect of a lack of a family history on BE genes suggests that CNVs may comprise one pathway to schizophrenia, whereas a positive family history could index other geneticmechanisms that increase schizophrenia vulnerability. To our knowledge, this is the first investigation of the association between genome-wide CNVs and risk factors and sub-phenotypic features of schizophrenia beyond cognitive function. (C) 2014 Elsevier B. V. All rights reserved.
C1 [Merikangas, Alison K.; Cormican, Paul; Heron, Elizabeth A.; Anney, Richard J. L.; Moore, Susan; Kelleher, Eric; Hargreaves, April; Gill, Michael; Gallagher, Louise; Corvin, Aiden] Univ Dublin Trinity Coll, Dept Psychiat, Inst Mol Med, Dublin 2, Ireland.
[Merikangas, Alison K.; Cormican, Paul; Heron, Elizabeth A.; Anney, Richard J. L.; Moore, Susan; Kelleher, Eric; Hargreaves, April; Gill, Michael; Gallagher, Louise; Corvin, Aiden] Univ Dublin Trinity Coll, Neuropsychiat Genet Res Grp, Inst Mol Med, Dublin 2, Ireland.
[Segurado, Ricardo] Univ Coll Dublin, Ctr Support & Training Anal & Res, Dublin 4, Ireland.
[Anderson-Schmidt, Heike] Univ Gottingen, Dept Psychiat & Psychotherapy, Univ Med Ctr, D-37073 Gottingen, Germany.
RP Merikangas, AK (reprint author), Univ Dublin Trinity Coll, Dept Psychiat, Trinity Ctr Hlth Sci, St James Hosp, James St, Dublin 8, Ireland.
EM merikana@tcd.ie
FU Irish Research Council; Wellcome Trust [072894/Z/03/Z, 090532/Z/09/Z,
075491/Z/04/B]; Wellcome Trust Case Control Consortium 2 project
[085475/B/08/Z, 085475/Z/08/Z]; Science Foundation Ireland
[08/IN.1/B1916]; National Institute of Mental Health [MH 41953,
MH083094]; Meath Foundation (Ireland)
FX Funding for this study was provided by the Irish Research Council, the
Wellcome Trust, (072894/Z/03/Z, 090532/Z/09/Z and 075491/Z/04/B) and
Wellcome Trust Case Control Consortium 2 project (085475/B/08/Z and
085475/Z/08/Z) Science Foundation Ireland (08/IN.1/B1916), the National
Institute of Mental Health (MH 41953 and MH083094) and the Meath
Foundation (Ireland).
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TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD SEP
PY 2014
VL 158
IS 1-3
BP 255
EP 260
DI 10.1016/j.schres.2014.06.016
PG 6
WC Psychiatry
SC Psychiatry
GA AO4MW
UT WOS:000341314800040
PM 24999052
ER
EF