FN Thomson Reuters Web of Science™
VR 1.0
PT J
AU Huke, V
Turk, J
Saeidi, S
Kent, A
Morgan, JF
AF Huke, Vanessa
Turk, Jeremy
Saeidi, Saeideh
Kent, Andrew
Morgan, John. F.
TI The Clinical Implications of High Levels of Autism Spectrum Disorder
Features in Anorexia Nervosa: A Pilot Study
SO EUROPEAN EATING DISORDERS REVIEW
LA English
DT Article
DE outcomes; anorexia nervosa; eating disorders; autism spectrum disorder;
clinical outcomes
ID EATING-DISORDERS; DROPOUT; TRAITS; SCALE; MIND; AQ
AB Objective
This study examined autism spectrum disorder (ASD) features in relation to treatment completion and eating disorder psychopathology in anorexia nervosa (AN).
Method
Thirty-two adult women were recruited from specialist eating disorder services. Features of ASD and disordered eating were measured. Premature termination of treatment was recorded to explore whether ASD traits had impact on early discharge. A healthy control group was also recruited to investigate ASD traits between clinical and nonclinical samples.
Results
Significant differences were found between the AN group and the healthy control group in obsessive-compulsive disorder traits, depression and anxiety and ASD traits, with significant differences between groups in Social Skill and Attention Switching. The AN group reported no significant relationship between disordered eating severity and ASD traits. No significant effect was found between ASD features and treatment completion.
Discussion
Raw data on premature termination of treatment, despite no statistic impact, showed that seven out of the eight participants with high features of ASD completed treatment as planned compared with 50% of those with low ASD traits. Unexpectedly, this suggests enhanced treatment adherence in ASD. Copyright (c) 2013 John Wiley & Sons, Ltd and Eating Disorders Association.
C1 [Huke, Vanessa; Turk, Jeremy; Kent, Andrew; Morgan, John. F.] Univ London, London, England.
[Huke, Vanessa; Saeidi, Saeideh; Morgan, John. F.] Yorkshire Ctr Eating Disorders, Leeds, W Yorkshire, England.
[Turk, Jeremy] South London & Maudsley NHS Fdn Trust, Southwark Child & Adolescent Mental Hlth Neurodev, London, England.
[Turk, Jeremy] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Morgan, JF (reprint author), Seacroft Hosp, Newsam Ctr, Yorkshire Ctr Eating Disorders, Ward 6, Leeds LS146WB, W Yorkshire, England.
EM jmorgan@sgul.ac.uk
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NR 29
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-4133
EI 1099-0968
J9 EUR EAT DISORD REV
JI Eur. Eat. Disord. Rev.
PD MAR
PY 2014
VL 22
IS 2
BP 116
EP 121
DI 10.1002/erv.2269
PG 6
WC Psychology, Clinical
SC Psychology
GA AB1HO
UT WOS:000331542300005
PM 24277715
ER
PT J
AU Bolton, S
McDonald, D
Curtis, E
Kelly, S
Gallagher, L
AF Bolton, Suzanne
McDonald, Denise
Curtis, Emma
Kelly, Stephanie
Gallagher, Louise
TI Autism in a recently arrived immigrant population
SO EUROPEAN JOURNAL OF PEDIATRICS
LA English
DT Article
DE Autism; Migrant health; Child psychiatry; Race and health; Community
child health; Neurodevelopmental paediatrics
ID RISK-FACTORS; DEVELOPMENTAL DISORDERS; INFANTILE-AUTISM; CHILDREN BORN;
PREVALENCE; SWEDEN; EPIDEMIOLOGY; PARENTS; ORIGIN
AB This study aims to establish whether children of an immigrant maternal population presented with a higher rate of autism than the indigenous population and to explore their presentation with regard to severity of symptoms, demographics and ethnicity. It is a retrospective case note analysis of 366 children who presented to the paediatric developmental service in the Adelaide and Meath incorporating the National Children's Hospital, Tallaght, Ireland between 2007 and 2009. During the study period, 366 children presented. Fifty-eight children (16 %) had mothers who were born in Africa and 53 (14 %) were born to mothers originating from a wider variety of countries. Two hundred and forty-eight children (68 %) had mothers born in Ireland. Maternal origin was not identified for seven children (2 %). An autistic spectrum disorder (ASD) was diagnosed in 131 children and speech and language delay in 132. Of the children with an ASD diagnosis, a higher proportion of the African cohort 13/18 (72.2 %) presented with moderate/severe cognitive disability compared to the Irish group 9/55(16.3 %), and the children in the African cohort showed a higher heritability with 36.9 % having a positive family history of autism reported compared to 26.3 % of the Irish cohort with an ASD diagnosis. Conclusion: This study highlights an observation of increased rates of ASD among a migrant population derived particularly from children born to mothers originating in Sub-Saharan Africa. This cohort is more severely affected. Further validation in an epidemiological sample is warranted, which if replicated, may help to identify possible aetiological risk factors.
C1 [Bolton, Suzanne; Kelly, Stephanie] St James Hosp, Dept Child & Adolescent Psychiat, Trinity Ctr Hlth Sci, Dublin 8, Ireland.
[Bolton, Suzanne] Natl Childrens Hosp Tallaght, Adelaide & Meath Inc, Dept Community Paediat, Dublin, Ireland.
[Bolton, Suzanne] St James Hosp, Trinity Ctr Hlth Sci, Trinity Coll Dublin, Dept Child & Adolescent Psychiat, Dublin 8, Ireland.
[McDonald, Denise; Curtis, Emma] Natl Childrens Hosp Tallaght, Adelaide & Meath Inc, Dublin, Ireland.
[Gallagher, Louise] Trinity Coll Dublin, Dept Child & Adolescent Psychiat, Dublin, Ireland.
RP Bolton, S (reprint author), St James Hosp, Dept Child & Adolescent Psychiat, Trinity Ctr Hlth Sci, Jamess St, Dublin 8, Ireland.
EM boltons@tcd.ie
FU National Children's Hospital Foundation; Barbara Fox
FX We are grateful to the support given by the National Children's Hospital
Foundation to this work. We would like to acknowledge the support given
by Barbara Fox in the data collection stage of the project.
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NR 33
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6199
EI 1432-1076
J9 EUR J PEDIATR
JI Eur. J. Pediatr.
PD MAR
PY 2014
VL 173
IS 3
BP 337
EP 343
DI 10.1007/s00431-013-2149-6
PG 7
WC Pediatrics
SC Pediatrics
GA AB7GL
UT WOS:000331957500009
PM 24085582
ER
PT J
AU Cristino, AS
Williams, SM
Hawi, Z
An, JY
Bellgrove, MA
Schwartz, CE
Costa, LD
Claudianos, C
AF Cristino, A. S.
Williams, S. M.
Hawi, Z.
An, J-Y
Bellgrove, M. A.
Schwartz, C. E.
Costa, L. da F.
Claudianos, C.
TI Neurodevelopmental and neuropsychiatric disorders represent an
interconnected molecular system
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE neurodevelopmental disorder; neuropsychiatric disorder; mental health
disorder; gene networks; systems biology
ID DEFICIT HYPERACTIVITY DISORDER; GENOME-WIDE ASSOCIATION; DE-NOVO
MUTATIONS; AUTISM SPECTRUM DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; COPY NUMBER VARIANTS; HUMAN PROTEINPEDIA; BIPOLAR DISORDER;
COMMON VARIANTS; GENE-EXPRESSION
AB Many putative genetic factors that confer risk to neurodevelopmental disorders such as autism spectrum disorders (ASDs) and X-linked intellectual disability (XLID), and to neuropsychiatric disorders including attention deficit hyperactivity disorder (ADHD) and schizophrenia (SZ) have been identified in individuals from diverse human populations. Although there is significant aetiological heterogeneity within and between these conditions, recent data show that genetic factors contribute to their comorbidity. Many studies have identified candidate gene associations for these mental health disorders, albeit this is often done in a piecemeal fashion with little regard to the inherent molecular complexity. Here, we sought to abstract relationships from our knowledge of systems level biology to help understand the unique and common genetic drivers of these conditions. We undertook a global and systematic approach to build and integrate available data in gene networks associated with ASDs, XLID, ADHD and SZ. Complex network concepts and computational methods were used to investigate whether candidate genes associated with these conditions were related through mechanisms of gene regulation, functional protein-protein interactions, transcription factor (TF) and microRNA (miRNA) binding sites. Although our analyses show that genetic variations associated with the four disorders can occur in the same molecular pathways and functional domains, including synaptic transmission, there are patterns of variation that define significant differences between disorders. Of particular interest is DNA variations located in intergenic regions that comprise regulatory sites for TFs or miRNA. Our approach provides a hypothetical framework, which will help discovery and analysis of candidate genes associated with neurodevelopmental and neuropsychiatric disorders.
C1 [Cristino, A. S.; Williams, S. M.; Hawi, Z.; An, J-Y; Bellgrove, M. A.; Claudianos, C.] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia.
[Hawi, Z.; Bellgrove, M. A.] Monash Univ, Sch Psychol & Psychiat, Melbourne, Vic 3004, Australia.
[Schwartz, C. E.] Greenwood Genet Ctr, Greenwood, SC 29646 USA.
[Costa, L. da F.] Univ Sao Paulo, Inst Fis Sao Carlos, Sao Paulo, Brazil.
RP Claudianos, C (reprint author), Univ Queensland, Queensland Brain Inst, QBI Bldg 79, Brisbane, Qld 4072, Australia.
EM a.cristino@uq.edu.au; c.claudianos@uq.edu.au
RI Cristino, Alexandre/A-5834-2012; Costa, Luciano/H-5475-2011
OI Cristino, Alexandre/0000-0002-3468-0919;
FU University of Queensland Post-doctoral Fellowship; ARC [110100292];
NHMRC of Australia [1008125]; NHMRC [569636, 569533, 1002458]; FAPESP
[2011/50761-2]; CNPq Brazil [304351/2009-1]
FX AS Cristino was supported by a University of Queensland Post-doctoral
Fellowship. C Claudianos received funding support from the ARC
(110100292) and NHMRC of Australia (1008125), MA Bellgrove from the
NHMRC (569636; 569533; 1002458) and L da F Costa from FAPESP
(2011/50761-2) and CNPq (304351/2009-1) Brazil.
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NR 71
TC 13
Z9 14
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1359-4184
EI 1476-5578
J9 MOL PSYCHIATR
JI Mol. Psychiatr.
PD MAR
PY 2014
VL 19
IS 3
BP 294
EP 301
DI 10.1038/mp.2013.16
PG 8
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA AB7EH
UT WOS:000331951600007
PM 23439483
ER
PT J
AU Kircher, M
Witten, DM
Jain, P
O'Roak, BJ
Cooper, GM
Shendure, J
AF Kircher, Martin
Witten, Daniela M.
Jain, Preti
O'Roak, Brian J.
Cooper, Gregory M.
Shendure, Jay
TI A general framework for estimating the relative pathogenicity of human
genetic variants
SO NATURE GENETICS
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; INTELLECTUAL DISABILITY;
HUMAN EXOMES; HUMAN GENOME; IN-VIVO; DATABASE; DISEASE; UPDATE; ELEMENTS
AB Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes). Here we describe Combined Annotation-Dependent Depletion (CADD), a method for objectively integrating many diverse annotations into a single measure (C score) for each variant. We implement CADD as a support vector machine trained to differentiate 14.7 million high-frequency human-derived alleles from 14.7 million simulated variants. We precompute C scores for all 8.6 billion possible human single-nucleotide variants and enable scoring of short insertions-deletions. C scores correlate with allelic diversity, annotations of functionality, pathogenicity, disease severity, experimentally measured regulatory effects and complex trait associations, and they highly rank known pathogenic variants within individual genomes. The ability of CADD to prioritize functional, deleterious and pathogenic variants across many functional categories, effect sizes and genetic architectures is unmatched by any current single-annotation method.
C1 [O'Roak, Brian J.; Shendure, Jay] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Witten, Daniela M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA.
[Jain, Preti; Cooper, Gregory M.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA.
RP Shendure, J (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
EM gcooper@hudsonalpha.org; shendure@uw.edu
FU US NIH [U54HG006493, DP5OD009145, DP1HG007811]
FX We thank P. Green and members of the Shendure laboratory for helpful
discussions and suggestions. Our work was supported by US NIH grants
U54HG006493 (to J.S. and G.M.C.), DP5OD009145 (to D.M.W.) and
DP1HG007811 (to J.S.).
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NR 59
TC 103
Z9 103
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 MAR
PY 2014
VL 46
IS 3
BP 310
EP +
DI 10.1038/ng.2892
PG 8
WC Genetics & Heredity
SC Genetics & Heredity
GA AB8JR
UT WOS:000332036700017
PM 24487276
ER
PT J
AU Nah, YH
Young, RL
Brewer, N
Berlingeri, G
AF Nah, Yong-Hwee
Young, Robyn L.
Brewer, Neil
Berlingeri, Genna
TI Autism Detection in Early Childhood (ADEC): Reliability and Validity
Data for a Level 2 Screening Tool for Autistic Disorder
SO PSYCHOLOGICAL ASSESSMENT
LA English
DT Article
DE early detection; Level 2 autism screening; ADEC; reliability; validity
ID DIAGNOSTIC OBSERVATION SCHEDULE; PERVASIVE DEVELOPMENTAL DISORDERS;
SPECTRUM DISORDERS; FOLLOW-UP; YOUNG-CHILDREN; 2-YEAR-OLDS STAT; VIDEO
ANALYSIS; AGE; INTERVIEW; TODDLERS
AB The Autism Detection in Early Childhood (ADEC; Young, 2007) was developed as a Level 2 clinician-administered autistic disorder (AD) screening tool that was time-efficient, suitable for children under 3 years, easy to administer, and suitable for persons with minimal training and experience with AD. A best estimate clinical Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM-IV-TR; American Psychiatric Association, 2000) diagnosis of AD was made for 70 children using all available information and assessment results, except for the ADEC data. A screening study compared these children on the ADEC with 57 children with other developmental disorders and 64 typically developing children. Results indicated high internal consistency (alpha = .91). Interrater reliability and test-retest reliability of the ADEC were also adequate. ADEC scores reliably discriminated different diagnostic groups after controlling for nonverbal IQ and Vineland Adaptive Behavior Composite scores. Construct validity (using exploratory factor analysis) and concurrent validity using performance on the Autism Diagnostic Observation Schedule (Lord et al., 2000), the Autism Diagnostic Interview-Revised (Le Couteur, Lord, & Rutter, 2003), and DSM-IV-TR criteria were also demonstrated. Signal detection analysis identified the optimal ADEC cutoff score, with the ADEC identifying all children who had an AD (N = 70, sensitivity = 1.0) but overincluding children with other disabilities (N = 13, specificity ranging from .74 to .90). Together, the reliability and validity data indicate that the ADEC has potential to be established as a suitable and efficient screening tool for infants with AD.
C1 [Nah, Yong-Hwee; Young, Robyn L.; Brewer, Neil; Berlingeri, Genna] Flinders Univ S Australia, Sch Psychol, Adelaide, SA 5001, Australia.
RP Nah, YH (reprint author), Flinders Univ S Australia, Sch Psychol, POB 2100, Adelaide, SA 5001, Australia.
EM yonghwee.nah@flinders.edu.au
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NR 75
TC 2
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 1040-3590
EI 1939-134X
J9 PSYCHOL ASSESSMENT
JI Psychol. Assess.
PD MAR
PY 2014
VL 26
IS 1
BP 215
EP 226
DI 10.1037/a0034472
PG 12
WC Psychology, Clinical
SC Psychology
GA AB5ZJ
UT WOS:000331866900020
PM 24490680
ER
PT J
AU Hsia, YF
Wong, AYS
Murphy, DGM
Simonoff, E
Buitelaar, JK
Wong, ICK
AF Hsia, Yingfen
Wong, Angel Y. S.
Murphy, Declan G. M.
Simonoff, Emily
Buitelaar, Jan K.
Wong, Ian C. K.
TI Psychopharmacological prescriptions for people with autism spectrum
disorder (ASD): a multinational study
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Autism spectrum disorder; Psychotropic drugs; Psychopharmacological
prescribing
ID PSYCHOTROPIC MEDICATION USE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DISRUPTIVE BEHAVIOR DISORDER; PLACEBO-CONTROLLED TRIAL; ANTIPSYCHOTIC
MEDICATION; PSYCHIATRIC-DISORDERS; REPETITIVE BEHAVIORS; UNITED-KINGDOM;
PRIMARY-CARE; CHILDREN
AB Previous studies on psychotropic drugs prescribing in autism spectrum disorder (ASD) were from the USA or the UK. However, these studies may not be generalizable to other countries. There is a need to understand the extent of psychopharmacological prescribing for ASD treatment at a multinational level to identify areas of prescribing which lack evidence.
We used the IMS Prescribing Insights database to investigate psychotropic drugs prescribing patterns for ASD treatment in children and adults in 2010-2012. Data were obtained from Europe (France, Germany, Italy, Spain and UK), South America (Mexico and Brazil), North America (Canada and USA) and Asia (Japan).
North American countries have the highest prescription rates, followed by the European and South American countries. Prescribing rates were higher in children compared to adults in individual countries. The most commonly prescribed drug for ASD was risperidone in young people (except in UK and Japan). In the UK, methylphenidate (34 %) was the most commonly prescribed for young people and haloperidol (44.1 %) in Japan. In adults, the most commonly prescribed drug class was antipsychotics and particularly risperidone (thioridazine and ziprasidone were the most prescribed antipsychotics in Brazil and USA, respectively).
There is variation in medication prescription for people with ASD among countries, which may be attributable to diagnostic criteria, clinical guidelines or health care systems. However, there is a lack of evidence of efficacy and safety for many psychotropic drugs prescribed for people with ASD. Research is needed to bridge the evidence gaps in prescribing.
C1 [Hsia, Yingfen; Wong, Angel Y. S.; Wong, Ian C. K.] Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China.
[Murphy, Declan G. M.] Kings Coll London, Sackler Inst Translat Neurodev Res, Inst Psychiat, London WC2R 2LS, England.
[Murphy, Declan G. M.] Kings Coll London, Dept Forens & Dev Sci, Inst Psychiat, 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, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, Med Ctr, NL-6525 ED Nijmegen, Netherlands.
[Hsia, Yingfen; Wong, Ian C. K.] UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England.
RP Wong, ICK (reprint author), Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China.
EM wongick@hku.hk
FU Innovative Medicines Initiative (IMI), European Autism Interventions
(EU-AIMS) [115300]; European Union company; EFPIA company; National
Institute of Health Research (UK); Biomedical Research Centre at the
Institute of Psychiatry, London, UK
FX The research leading to these results has received support from the
Innovative Medicines Initiative (IMI) Joint Undertaking under grant
agreement no. 115300: European Autism Interventions (EU-AIMS), 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. DM, IW and ES also received funding from the
National Institute of Health Research (UK) for a program grant on this
topic and for the neurodevelopmental theme in Biomedical Research Centre
at the Institute of Psychiatry, London, UK.
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TC 7
Z9 7
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 999
EP 1009
DI 10.1007/s00213-013-3263-x
PG 11
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500003
PM 24005531
ER
PT J
AU Murray, ML
Hsia, YF
Glaser, K
Simonoff, E
Murphy, DGM
Asherson, PJ
Eklund, H
Wong, ICK
AF Murray, Macey L.
Hsia, Yingfen
Glaser, Karen
Simonoff, Emily
Murphy, Declan G. M.
Asherson, Philip J.
Eklund, Hanna
Wong, Ian C. K.
TI Pharmacological treatments prescribed to people with autism spectrum
disorder (ASD) in primary health care
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Autistic spectrum disorder; Prevalence; Psychotropic drugs; Primary
care; Co-morbidity; Children; Adolescents; Young adults
ID PSYCHOTROPIC MEDICATION USE; PERVASIVE DEVELOPMENTAL DISORDERS;
POPULATION-BASED SURVEILLANCE; PRACTICE RESEARCH DATABASE;
PSYCHIATRIC-DISORDERS; ANTIPSYCHOTIC-DRUGS; CHILDREN; ADOLESCENTS;
PREVALENCE; UK
AB Autism spectrum disorders (ASDs) affect 1 % of children, having significant impact on health and social outcomes. Psychotropic medication use by individuals with ASD in the USA increased over time, and polypharmacy occurred in > 50 % of those prescribed. In the UK, no psychotropic drugs are approved in ASDs, and little is known about patterns of pharmacological treatment in the ASD population and associated co-morbidities.
We used The Health Improvement Network, a nationally representative primary care database, to assess the prevalence of ASD diagnoses, psychotropic drug prescribing and neuropsychiatric co-morbidities of 0-24 year olds between 1992 and 2008.
ASD prevalence increased 65-fold from 0.01 % (1992) to 0.50 % (2008). Psychotropic drugs were prescribed to 29 % (1,619/5,651) of the ASD cohort; the most prescribed drugs were sleep medication (9.7 % of prescribed patients), psychostimulants (7.9 %) and antipsychotics (7.3 %). More patients were given psychostimulants and sleep medications over time from 1.5-6.3 % and 2.2-5.9 % respectively. Thirty-seven per cent of the cohort had a parts per thousand yen1 record of a neuropsychiatric co-morbidity, the most common being developmental difficulties and learning disabilities (12.6 %), behavioural, conduct and personality disorders (11.1 %) and attention deficit hyperactivity disorder (7.5 %).
British physicians are more conservative in prescribing practice than American colleagues. However, use of psychostimulants and antipsychotics is much higher in those with ASD than in the general population. Polypharmacy was seen in 34 % of prescribed patients in 2008. Additional studies examining use, efficacy, and long-term safety of antipsychotics and psychostimulants in autistic individuals are warranted.
C1 [Murray, Macey L.; Hsia, Yingfen; Wong, Ian C. K.] UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England.
[Glaser, Karen; Eklund, Hanna] Kings Coll London, Dept Social Sci Hlth & Med, 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.
[Murphy, Declan G. M.; Eklund, Hanna] Kings Coll London, Dept Forens & Dev Sci, Inst Psychiat, London WC2R 2LS, England.
[Asherson, Philip J.] Kings Coll London, MRC Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England.
[Hsia, Yingfen; Wong, Ian C. K.] Univ Hong Kong, Ctr Safe Medicat Practice & Res, Dept Pharmacol & Pharm, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China.
RP Murray, ML (reprint author), UCL, Ctr Paediat Pharm Res, Dept Practice & Policy, UCL Sch Pharm, London, England.
EM macey.murray@ucl.ac.uk
FU National Institute for Health; Innovative Medicines Initiative (IMI)
under European Autism Interventions (EU-AIMS) [115300]; European Union
company; EFPIA company
FX The use of the THIN data was funded by the National Institute for Health
Research Programme Grant for Applied Research: crossing the divide,
effective treatments for people with neurodevelopmental disorders across
the lifespan and intellectual ability. The research leading to these
results has received support from the Innovative Medicines Initiative
(IMI) Joint Undertaking under grant agreement no. 115300: European
Autism Interventions (EU-AIMS), 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.
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NR 48
TC 8
Z9 8
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 1011
EP 1021
DI 10.1007/s00213-013-3140-7
PG 11
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500004
PM 23681164
ER
PT J
AU Cocks, G
Curran, S
Gami, P
Uwanogho, D
Jeffries, AR
Kathuria, A
Lucchesi, W
Wood, V
Dixon, R
Ogilvie, C
Steckler, T
Price, J
AF Cocks, Graham
Curran, Sarah
Gami, Priya
Uwanogho, Dafe
Jeffries, Aaron R.
Kathuria, Annie
Lucchesi, Walter
Wood, Victoria
Dixon, Rosemary
Ogilvie, Caroline
Steckler, Thomas
Price, Jack
TI The utility of patient specific induced pluripotent stem cells for the
modelling of Autistic Spectrum Disorders
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Induced pluripotent stem cells; Autism; SHANK3
ID POSTSYNAPTIC DENSITY PROTEINS; SINGLE POLYCISTRONIC VECTOR; HUMAN IPS
CELLS; HUMAN KERATINOCYTES; DELETION SYNDROME; PURKINJE-CELLS;
SOMATIC-CELLS; GENERATION; DIFFERENTIATION; EXPRESSION
AB Until now, models of psychiatric diseases have typically been animal models. Whether they were to be used to further understand the pathophysiology of the disorder, or as drug discovery tools, animal models have been the choice of preference in mimicking psychiatric disorders in an experimental setting. While there have been cellular models, they have generally been lacking in validity. This situation is changing with the advent of patient-specific induced pluripotent stem cells (iPSCs). In this article, we give a methodological evaluation of the current state of the iPS technology with reference to our own work in generating patient-specific iPSCs for the study of autistic spectrum disorder (ASD). In addition, we will give a broader perspective on the validity of this technology and to what extent it can be expected to complement animal models of ASD in the coming years.
C1 [Cocks, Graham; Gami, Priya; Uwanogho, Dafe; Jeffries, Aaron R.; Kathuria, Annie; Lucchesi, Walter; Wood, Victoria; Dixon, Rosemary; Price, Jack] Kings Coll London, Dept Neurosci, James Black Ctr, London WC2R 2LS, England.
[Curran, Sarah] Inst Psychiat, Child & Adolescent Psychiat Dept, London, England.
[Curran, Sarah] Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London, England.
[Ogilvie, Caroline] Guys & St Thomas NHS Fdn Trust, Guys & St Thomas Ctr, Preimplantat Genet Diag & Genet Ctr, London, England.
[Steckler, Thomas] Janssen Res & Dev, Neurosci Discovery, Beerse, Belgium.
RP Price, J (reprint author), Kings Coll London, Dept Neurosci, James Black Ctr, 125 Coldharbour Lane, London WC2R 2LS, England.
EM jack.price@kcl.ac.uk
RI Jeffries, Aaron/D-1256-2014
OI Jeffries, Aaron/0000-0002-1235-8291
FU agency for Innovation by Science and Technology (IWT), Ellipsgebouw,
Brussels (Belgium); IWT O&O project, project title: the generation of
human iPS cells for drug discovery iPS [IWT 090574]; National Institute
for Health Research (NIHR) Biomedical Research Centre for Mental Health
at South London and Maudsley NHS Foundation Trust; Institute of
Psychiatry, King's College London; NIHR; Innovative Medicines Initiative
[115300]; European Union company; EFPIA company
FX We acknowledge the financial support of the agency for Innovation by
Science and Technology (IWT), Ellipsgebouw, Brussels (Belgium). IWT O&O
project nr: IWT 090574, project title: the generation of human iPS cells
for drug discovery iPS.We acknowledge the financial support of the
National Institute for Health Research (NIHR) Biomedical Research Centre
for Mental Health at South London and Maudsley NHS Foundation Trust and
Institute of Psychiatry, King's College London. This article presents
independent research funded by the NIHR. The views expressed are those
of the author(s) and not necessarily those of the NHS, the NIHR or the
Department of Health.The research leading to these results has 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.
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NR 75
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 1079
EP 1088
DI 10.1007/s00213-013-3196-4
PG 10
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500008
PM 23839283
ER
PT J
AU Dage, JL
Colvin, EM
Fouillet, A
Langron, E
Roell, WC
Li, JL
Mathur, SX
Mogg, AJ
Schmitt, MG
Felder, CC
Merchant, KM
Isaac, J
Broad, LM
Sher, E
Ursu, D
AF Dage, Jeffrey L.
Colvin, Ellen M.
Fouillet, Antoine
Langron, Emily
Roell, William C.
Li, Jingling
Mathur, Sachin X.
Mogg, Adrian J.
Schmitt, Matthew G.
Felder, Christian C.
Merchant, Kalpana M.
Isaac, John
Broad, Lisa M.
Sher, Emanuele
Ursu, Daniel
TI Pharmacological characterisation of ligand- and voltage-gated ion
channels expressed in human iPSC-derived forebrain neurons
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE IPSC; Stem cells; Ion channels; Glutamate receptors; GABA(A) receptors
ID PLURIPOTENT STEM-CELLS; CULTURED CORTICAL-NEURONS; AUTISM SPECTRUM
DISORDERS; SYNAPTIC NMDA RECEPTORS; RNAS ENCODING SUBUNITS; D-ASPARTATE
RECEPTOR; CALCIUM TRANSIENTS; GENE-EXPRESSION; GABA RESPONSES; RAT
NEOCORTEX
AB Genetic causes, or predisposition, are increasingly accepted to be part of the ethiopathogenesis of many neuropsychiatric diseases. While genes can be studied in any type of cells, their physiological function in human brain cells is difficult to evaluate, particularly in living subjects.
As a first step towards the characterisation of human inducible pluripotent stem cell (iPSC)-derived neurons from autism spectrum disorder (ASD) patients, we used gene expression and functional studies to define the regional identity of the typical forebrain differentiation, demonstrate expression patterns of genes of interest in ASD and understand the properties of 'control' iPSC-derived neurons (iCell-Neurons (TM)), with a focus on receptors and ion channels that play a central role in synaptic physio-pathology.
The gene expression profile of the iCell-Neurons (TM) closely resembled that observed in neonatal prefrontal cortex tissues. Functional studies, performed mainly using calcium flux assays, demonstrated the presence of ionotropic glutamate (alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid and N-methyl-d-aspartate) and gamma-aminobutyric acid type A receptors. Voltage-gated sodium and calcium channels were also identified using similar techniques.
Overall, the results reported here suggest that iCell-Neurons (TM) are a good cellular model of a relatively immature forebrain human neuron population that can be used both as a control in comparison to patients cells, and as host cells in which mutations, insertions and deletions can be used in order to study the molecular mechanisms of ASD and other neurological disorders in an isogenic cellular background.
C1 [Dage, Jeffrey L.; Roell, William C.; Li, Jingling; Mathur, Sachin X.; Schmitt, Matthew G.; Felder, Christian C.; Merchant, Kalpana M.] Eli Lilly & Co, Lilly Res Labs, Indianapolis, IN 46285 USA.
[Colvin, Ellen M.; Fouillet, Antoine; Langron, Emily; Mogg, Adrian J.; Isaac, John; Broad, Lisa M.; Sher, Emanuele; Ursu, Daniel] Eli Lilly & Co, Lilly Res Ctr, Windlesham GU20 6PH, Surrey, England.
RP Ursu, D (reprint author), Eli Lilly & Co, Lilly Res Ctr, Windlesham GU20 6PH, Surrey, England.
EM Ursu_Daniel@lilly.com
FU Innovative Medicines Initiative [115300]; European Union company; EFPIA
company
FX We gratefully acknowledge the contributions of Nicholas Reising
(Advanced Testing Laboratories) for cell culture support and the
Discovery Chemistry Synthesis Group at Eli Lilly for the synthesis of
compounds. We would also like to thank our collaborators from Cellular
Dynamics International Inc for providing samples from the
differentiation runs studied and time in culture as well as the
iCell-Neurons (TM). The research leading to these results has 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.
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NR 71
TC 5
Z9 5
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 1105
EP 1124
DI 10.1007/s00213-013-3384-2
PG 20
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500010
PM 24429870
ER
PT J
AU Khatri, N
Simpson, KL
Lin, RCS
Paul, IA
AF Khatri, Nidhi
Simpson, Kimberly L.
Lin, Rick C. S.
Paul, Ian A.
TI Lasting neurobehavioral abnormalities in rats after neonatal activation
of serotonin 1A and 1B receptors: possible mechanisms for serotonin
dysfunction in autistic spectrum disorders
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Selective serotonin reuptake inhibitor; Autism; Antidepressant;
Serotonin; Development; Sensory systems; Social behavior; Neonatal
exposure; Citalopram; 8-OH-DPAT; CGS-12066B; WAY-100635; GR-127935
ID KNOCK-OUT MICE; MONOAMINE-OXIDASE; EXTRACELLULAR SEROTONIN; REUPTAKE
INHIBITORS; ANIMAL-MODEL; ANTIDEPRESSANT EXPOSURE; WITHDRAWAL SYNDROME;
BRAIN-DEVELOPMENT; 5-HT1B RECEPTORS; OLFACTORY-BULB
AB Perinatal exposure of rats to selective serotonin reuptake inhibitors (SSRIs) produces sensory and social abnormalities paralleling those seen in autistic spectrum disorders (ASDs). However, the possible mechanism(s) by which this exposure produces behavioral abnormalities is unclear.
We hypothesized that the lasting effects of neonatal SSRI exposure are a consequence of abnormal stimulation of 5-HT1A and/or 5-HT1B receptors during brain development. We examined whether such stimulation would result in lasting sensory and social deficits in rats in a manner similar to SSRIs using both direct agonist stimulation of receptors as well as selective antagonism of these receptors during SSRI exposure.
Male and female rat pups were treated from postnatal days 8 to 21. In Experiment 1, pups received citalopram (20 mg/kg/day), saline, (+/-)-8-hydroxy-dipropylaminotetralin hydrobromide (8-OH-DPAT; 0.5 mg/kg/day) or 7-trifluoromethyl-4(4-methyl-1-piperazinyl)-pyrrolo[1,2-a]-quinoxaline dimaleate (CGS-12066B; 10 mg/kg/day). In Experiment 2, a separate cohort of pups received citalopram (20 mg/kg/day), or saline which was combined with either N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-2-pyridinylcyclo-hexanecarboxamide maleate (WAY-100635; 0.6 mg/kg/day) or N-[4-methoxy-3-(4-methyl-1-piperazinyl)phenyl]-2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)-1-1'-biphenyl-4-carboxamide (GR-127935; 6 mg/kg/day) or vehicle. Rats were then tested in paradigms designed to assess sensory and social response behaviors at different time points during development.
Direct and indirect neonatal stimulation of 5-HT1A or 5-HT1B receptors disrupts sensory processing, produces neophobia, increases stereotypic activity, and impairs social interactions in manner analogous to that observed in ASD.
Increased stimulation of 5-HT1A and 5-HT1B receptors plays a significant role in the production of lasting social and sensory deficits in adult animals exposed as neonates to SSRIs.
C1 [Khatri, Nidhi; Paul, Ian A.] Univ Mississippi, Med Ctr, Dept Pharmacol & Toxicol, Jackson, MS 39216 USA.
[Simpson, Kimberly L.; Lin, Rick C. S.] Univ Mississippi, Med Ctr, Dept Neurobiol & Anat Sci, Jackson, MS 39216 USA.
[Simpson, Kimberly L.; Lin, Rick C. S.; Paul, Ian A.] Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, Jackson, MS 39216 USA.
RP Paul, IA (reprint author), Univ Mississippi, Med Ctr, Dept Psychiat & Human Behav, 2500 North State St, Jackson, MS 39216 USA.
EM ipaul@umc.edu
FU NIMH, NCRR [MH08194, RR017701]
FX The authors thank Emily C. Nichols for her excellent technical
assistance. This study was supported by the NIMH, NCRR through grant
numbers MH08194 and RR017701
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NR 65
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 1191
EP 1200
DI 10.1007/s00213-013-3242-2
PG 10
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500014
PM 23975037
ER
PT J
AU Pop, AS
Levenga, J
de Esch, CEF
Buijsen, RAM
Nieuwenhuizen, IM
Li, T
Isaacs, A
Gasparini, F
Oostra, BA
Willemsen, R
AF Pop, Andreea S.
Levenga, Josien
de Esch, Celine E. F.
Buijsen, Ronald A. M.
Nieuwenhuizen, Ingeborg M.
Li, Tracy
Isaacs, Aaron
Gasparini, Fabrizio
Oostra, Ben A.
Willemsen, Rob
TI Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5
antagonist AFQ056/Mavoglurant
SO PSYCHOPHARMACOLOGY
LA English
DT Article
DE Fragile X syndrome; FMRP; Dendritic spines; Hippocampal CA1;
AFQ056/Mavoglurant; FMR1
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; KNOCKOUT MICE;
MESSENGER-RNAS; MOUSE MODEL; NEURONS; CORTEX; IDENTIFICATION; DISORDERS;
SYNAPSES
AB Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism. The disease is a result of lack of expression of the fragile X mental retardation protein. Brain tissues of patients with FXS and mice with FMRP deficiency have shown an abnormal dendritic spine phenotype. We investigated the dendritic spine length and density of hippocampal CA1 pyramidal neurons in 2-, 10-, and 25-week-old Fmr1 knockout (KO). Next, we studied the effects of long-term treatment with an mGluR5 antagonist, AFQ056/Mavoglurant, on the spine phenotype in adult Fmr1 KO mice. We observed alterations in the spine phenotype during development, with a decreased spine length in 2-week-old Fmr1 KO mice compared with age-match wild-type littermates, but with increased spine length in Fmr1 KO mice compared with 10- and 25-week-old wild-type controls. No difference was found in spine density at any age. We report a rescue of the abnormal spine length in adult Fmr1 KO mice after a long-term treatment with AFQ056/Mavoglurant. This finding suggests that long-term treatment at later stage is sufficient to reverse the structural spine abnormalities and represents a starting point for future studies aimed at improving treatments for FXS.
C1 [Pop, Andreea S.; de Esch, Celine E. F.; Buijsen, Ronald A. M.; Nieuwenhuizen, Ingeborg M.; Li, Tracy; Oostra, Ben A.; Willemsen, Rob] Erasmus MC, CBG Dept Clin Genet, NL-3015GE Rotterdam, Netherlands.
[Levenga, Josien] NYU, Sch Med, Smilow Neurosci Program, New York, NY 10016 USA.
[Isaacs, Aaron] Erasmus MC, Unit Genet Epidemiol, Dept Epidemiol, NL-3015GE Rotterdam, Netherlands.
[Gasparini, Fabrizio] Novartis Inst Biomed Res, Neurosci Discovery Grp, CH-4002 Basel, Switzerland.
[Willemsen, Rob] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands.
RP Willemsen, R (reprint author), Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands.
EM r.willemsen@erasmusmc.nl
FU Netherlands Organisation for Health Research and Development (ZonMw)
[912-07-022]; E-Rare program entitled "Cure FXS" [EU/FIS PS09102673]
FX This work was supported by a grant from the Netherlands Organisation for
Health Research and Development (ZonMw, no. 912-07-022) (RW) and from
the E-Rare program entitled "Cure FXS" (no. EU/FIS PS09102673) (RW).
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Zuo Y, 2005, NEURON, V46, P181, DOI 10.1016/j.neuron.2005.04.001
NR 36
TC 7
Z9 7
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0033-3158
EI 1432-2072
J9 PSYCHOPHARMACOLOGY
JI Psychopharmacology
PD MAR
PY 2014
VL 231
IS 6
BP 1227
EP 1235
DI 10.1007/s00213-012-2947-y
PG 9
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AB8FL
UT WOS:000332025500017
PM 23254376
ER
PT J
AU Khanna, R
Jariwala-Parikh, K
West-Strum, D
Mahabaleshwarkar, R
AF Khanna, Rahul
Jariwala-Parikh, Krutika
West-Strum, Donna
Mahabaleshwarkar, Rohan
TI Health-related quality of life and its determinants among adults with
autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Adults; Health-related quality of life; Social support; Coping
ID PERCEIVED SOCIAL SUPPORT; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS;
MULTIDIMENSIONAL SCALE; ASPERGER-SYNDROME; CARE UTILIZATION; MORTALITY;
COMMUNITY; CHILDREN; OUTCOMES
AB The purpose of this study was to determine health-related quality of life (HRQOL) among adults with autism, and compare it to the HRQOL of the general adult population in the United States (US). Factors predicting HRQOL of adults with autism were also identified. A cross-sectional online survey was conducted to gather study information. From adults with autism registered with the Interactive Autism Network (IAN), those aged 18 years and above and having the capacity to self-report were identified and approached for study participation. The final sample included 291 adults with autism. One-way t-test revealed adults with autism to have significantly lower physical and mental HRQOL than their counterparts in the US population. Using linear regression analysis, modifiable factors including social support and coping along with other socio-demographic and medial characteristics were identified as significant predictors of physical and mental HRQOL. Greater perceived adequacy of social support from friends and family was associated with better HRQOL, while greater use of maladaptive coping was associated with lower HRQOL. Clinicians and other health interventionist should consider assessing these factors among adults with autism, and provide necessary capabilities to these adults with the aim of improving their HRQOL. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Khanna, Rahul; Jariwala-Parikh, Krutika; West-Strum, Donna; Mahabaleshwarkar, Rohan] Univ Mississippi, Sch Pharm, Dept Pharm Adm, University, MS 38677 USA.
RP Khanna, R (reprint author), Univ Mississippi, Sch Pharm, Dept Pharm Adm, Faser Hall 236, University, MS 38677 USA.
EM rkhanna@olemiss.edu
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NR 41
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 157
EP 167
DI 10.1016/j.rasd.2013.11.003
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500001
ER
PT J
AU Lin, CS
AF Lin, Chu-Sui
TI Early language learning profiles of young children with autism:
Hyperlexia and its subtypes
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Computer-assisted assessment; Hyperlexia; Subtypes
ID SPECTRUM-DISORDER; WORD RECOGNITION; SKILLS; COMPREHENSION
AB This study utilized a standardized and comprehensive computer-aided language assessment tool to identify the early learning characteristics (e.g., hyperlexia) of young children with autism. The tool consisted of six subtests: decoding, homographs, auditory vocabulary comprehension, visual vocabulary comprehension, auditory sentence comprehension, and visual sentence comprehension. Thirty-five children with ASD between the ages of 4 and 6 from Tao-Yuan County in Taiwan participated in the study. Fifteen children with ASD whose decoding performance was 1 standard deviation above the norm of age-matched typically developing children were identified as hyperlexic and selected for further analysis. Five potential hyperlexic subtypes of language learning profiles emerged from this group of children with ASD. This study revealed the heterogeneous nature of language learning characteristics of young children with autism. Such findings have important implications for preschool teachers and other early interventionists who seek to develop specific strategies that capitalize on the learning strengths of young children with ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Chung Yuan Christian Univ, Dept Special Educ, Chungli 32023, Taiwan.
RP Lin, CS (reprint author), Chung Yuan Christian Univ, Dept Special Educ, 200 Chung Pei Rd, Chungli 32023, Taiwan.
EM chusui@cycu.edu.tw
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NR 22
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 MAR
PY 2014
VL 8
IS 3
BP 168
EP 177
DI 10.1016/j.rasd.2013.11.004
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500002
ER
PT J
AU Williams, LW
Matson, JL
Beighley, JS
Rieske, RD
Adams, HL
AF Williams, Lindsey W.
Matson, Johnny L.
Beighley, Jennifer S.
Rieske, Robert D.
Adams, Hilary L.
TI Comorbid symptoms in toddlers diagnosed with autism spectrum disorder
with the DSM-IV-TR and the DSM-5 criteria
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Comorbidity; DSM-5; BISCUIT
ID PERVASIVE DEVELOPMENTAL DISORDER; CHALLENGING BEHAVIORS; PDD-NOS;
CHILDREN; ADULTS; EPILEPSY; INFANTS; ANXIETY; TRAITS; RATES
AB Autism spectrum disorder (ASD) is correlated with a high probability of comorbid psychopathology. Comorbid symptoms are often equally impairing and deserving of intervention. With publication of the DSM-5, it is likely that many children who would have met the previous DSM-IV-TR criteria for ASD will not be diagnosed under the current criteria. The aim of this study is to examine common comorbid symptom categories (i.e., tantrum/conduct, inattention/impulsivity, avoidance, anxiety/repetitive behavior, and eating/sleep problems) of children who exhibit significant ASD symptoms but do not meet DSM-5 criteria. The study included toddlers who meet DSM-5 criteria for ASD; 320 who meet DSM-IV-TR criteria only, and a comparison group of 1951 atypically developing toddlers referred for evaluation but who did not meet either set of ASD criteria. Unsurprisingly, toddlers meeting the more stringent DSM-5 ASD criteria also exhibited greater comorbid symptoms, especially anxiety/repetitive behavior. Those who met only DSM-IV-TR criteria exhibited more comorbid symptoms than the atypically developing group in all categories, most notably inattention/impulsivity and tantrum/conduct. As the new DSM-5 criteria are adopted, researchers and clinicians should consider those who do not meet criteria for ASD may still have symptoms warranting assessment or intervention. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Williams, Lindsey W.; Matson, Johnny L.; Beighley, Jennifer S.; Rieske, Robert D.; 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
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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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 MAR
PY 2014
VL 8
IS 3
BP 186
EP 192
DI 10.1016/j.rasd.2013.11.007
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500004
ER
PT J
AU Adams, HL
Matson, JL
Cervantes, PE
Goldin, RL
AF Adams, Hilary L.
Matson, Johnny L.
Cervantes, Paige E.
Goldin, Rachel L.
TI The relationship between autism symptom severity and sleep problems:
Should bidirectionality be considered?
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Sleep problems; Symptom severity
ID PERVASIVE DEVELOPMENTAL DISORDER; SPECTRUM DISORDERS; INTELLECTUAL
DISABILITY; CHALLENGING BEHAVIORS; ANXIETY DISORDERS; CHILDREN;
DIAGNOSIS; ADULTS; INFANTS; PSYCHOPATHOLOGY
AB Prior research assessing the relationship between autism spectrum disorder (ASD) symptom severity and sleep problems has considered the association in a unidirectional manner; researchers have primarily focused on how sleep difficulties affect ASD symptom presentation. Specifically, extant research literature on this topic indicates that sleep problems exacerbate ASD symptom severity. The present study provides an investigation of this topic in a bidirectional manner. Primary results corroborated the compounding effect of sleep problems on ASD symptom severity. Furthermore, the results of a multinomial linear regression provided preliminary evidence that increased ASD symptom severity may predict an increased likelihood of the presence of sleep problems. As such, the authors conclude that the relationship between ASD symptom severity and sleep problems should be considered bidirectionally in future research. Implications for a relationship in each direction are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Adams, Hilary L.; Matson, Johnny L.; Cervantes, Paige E.; Goldin, Rachel L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Adams, HL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM hilary.l.adams@gmail.com
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NR 54
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 193
EP 199
DI 10.1016/j.rasd.2013.11.008
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500005
ER
PT J
AU Konst, MJ
Matson, JL
AF Konst, Matthew J.
Matson, Johnny L.
TI Temporal and diagnostic influences on the expression of comorbid
psychopathology symptoms in infants and toddlers with Autism Spectrum
Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Comorbid psychopathology; Baby and Infant Screen for Children with
a-Utlsm; Traits-Part 2; Autism Spectrum Disorder; Stability
ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE BEHAVIORAL INTERVENTION;
PSYCHIATRIC-DISORDERS; PDD-NOS; INTELLECTUAL DISABILITY; CHALLENGING
BEHAVIORS; TRAITS BISCUIT; YOUNG-CHILDREN; SCREEN; BABY
AB In an attempt to increase the specificity and sensitivity the diagnostic criteria for ASD has been recently modified. Aside from the impact the diagnostic rates, these changes also have implications for the study of comorbid symptoms in the ASD population. As we refine the criteria for the ASD category we must also seek to improve our understanding of the manifestation of comorbid psychopathology within ASD populations. The current study sought to examine diagnostic and temporal influences on the expression of comorbid psychopathology symptoms in 205 infants and toddlers ranging in age from 17 to 37 months. Participants were separated into two groups based on their diagnoses (i.e., Autism Spectrum Disorder [ASD] and atypical development without an ASD). The BISCUIT-Part 2 was administered on two separate occasions, with the initial and follow up assessment occurring within one of two time intervals (4-8 months, or 9-13 months). Results from the current study indicate that the time between initial and follow up assessments is a significant factor influencing symptom expression. In addition to the temporal influence, it was observed that children diagnosed with ASD exhibit significantly less stable symptoms of comorbid psychopathology. Implications of these findings are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Konst, Matthew J.; Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 82
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 MAR
PY 2014
VL 8
IS 3
BP 200
EP 208
DI 10.1016/j.rasd.2013.11.009
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500006
ER
PT J
AU Damiano, CR
Aloi, J
Burrus, C
Garbutt, JC
Kampov-Polevoy, AB
Dichter, GS
AF Damiano, Cara R.
Aloi, Joseph
Burrus, Caley
Garbutt, James C.
Kampov-Polevoy, Alexei B.
Dichter, Gabriel S.
TI Intact hedonic responses to sweet tastes in autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Reward processing; Sweet taste; Opioid
system; Primary rewards
ID PERVASIVE DEVELOPMENTAL DISORDERS; SOCIAL RESPONSIVENESS SCALE; ALCOHOL
DEPENDENCE; NALTREXONE TREATMENT; NUCLEUS-ACCUMBENS; GENETIC-VARIATION;
OPIOID-PEPTIDES; NOVELTY SEEKING; FAMILY-HISTORY; QUOTIENT AQ
AB The Sweet Taste Test (STT) is a standardized measure designed to index the ability to detect differences in sweet tastes (sweet taste sensitivity) and hedonic responses to sweet tastes (sweet taste liking). Profiles of response on the STT suggest enhanced hedonic responses to sweet tastes in psychiatric disorders characterized by dysfunctional reward processing systems, including binge-eating disorders and substance use disorders, and a putative mechanism governing STT responses is the brain opioid system. The present study examined STT responses in 20 adults with autism spectrum disorder (ASD) and 38 healthy control adults. There were no differences in sweet taste sensitivity or hedonic response to sweet tastes between the ASD and control groups. Within the ASD sample, ASD symptom severity was associated with sweet taste sensitivity, but not hedonic response to sweet taste. Results may ultimately shed light on brain opioid system functioning in ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Damiano, Cara R.; Aloi, Joseph; Dichter, Gabriel S.] UNC CH, Dept Psychol, Chapel Hill, NC 27599 USA.
[Burrus, Caley] Duke Univ, Dept Psychol & Neurosci, Durham, NC 27705 USA.
[Garbutt, James C.; Kampov-Polevoy, Alexei B.] Univ N Carolina, Sch Med, Bowles Ctr Alcohol Studies, Chapel Hill, NC 27599 USA.
[Garbutt, James C.; Kampov-Polevoy, Alexei B.; Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Dichter, Gabriel S.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
RP Damiano, CR (reprint author), UNC CH, Dept Psychol, CB 3270,Davie Hall, Chapel Hill, NC 27599 USA.
EM cdamiano@email.unc.edu; aloijm@gmail.com; cjb53@duke.edu;
JC_Garbutt@med.unc.edu; alexei_kampov-polevoi@med.unc.edu;
dichter@med.unc.edu
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NR 69
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 MAR
PY 2014
VL 8
IS 3
BP 230
EP 236
DI 10.1016/j.rasd.2013.12.003
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500009
ER
PT J
AU Yoshimura, S
Toichi, M
AF Yoshimura, Sayaka
Toichi, Motomi
TI A lack of self-consciousness in Asperger's disorder but not in PDDNOS:
Implication for the clinical importance of ASD subtypes
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder (ASD); Subtyping; Self-consciousness;
Self-information processing; Memory
ID AUTISTIC-CHILDREN; INCIDENTAL MEMORY; EPISODIC MEMORY; RECOGNITION;
ADOLESCENTS; AWARENESS; COGNITION; ADULTS
AB Self-consciousness plays an important role in a person's social life. Assuming that self-consciousness is a key to understanding social impairments in high-functioning autism spectrum disorder (ASD), we examined self-consciousness in individuals with Asperger's disorder, pervasive developmental disorder not otherwise specified (PDDNOS) and their controls using an episodic memory task. The PDDNOS group consisted of individuals in a milder subgroup of PDDNOS, with less autistic features than Asperger's disorder. In the learning phase, one of three types of questions (phonological, semantic, self-referential) was asked about each following target word. The target words were all personality trait adjectives. Next, a recognition test was conducted. The PDDNOS group, like the control, showed the most superior performance in self-referential processing (i.e. the self-reference effect) while the Asperger's group did not; however, both the ASD groups revealed an atypical pattern of relationship between memory performance and IQ. Individuals with PDDNOS, unlike those with Asperger's disorder, may be self-conscious to the same degree as typically developing individuals, but the cognitive process leading them to self-consciousness seems atypical, causing social impairments similar to those seen in individuals with Asperger's disorder who lack self-consciousness. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Yoshimura, Sayaka] Kyoto Univ, Grad Sch Med, Dept Psychiat, Sakyo Ku, Kyoto 6068507, Japan.
[Toichi, Motomi] Kyoto Univ, Grad Sch Med, Fac Human Hlth Sci, Sakyo Ku, Kyoto 6068507, Japan.
RP Yoshimura, S (reprint author), Kyoto Univ, Grad Sch Med, Dept Psychiat, Sakyo Ku, 54 Shogoin Kawaharacho, Kyoto 6068507, Japan.
EM yoshimurasayaka@gmail.com
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NR 25
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 MAR
PY 2014
VL 8
IS 3
BP 237
EP 243
DI 10.1016/j.rasd.2013.12.005
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500010
ER
PT J
AU Kloosterman, PH
Kelley, EA
Parker, JDA
Craig, WM
AF Kloosterman, Patricia H.
Kelley, Elizabeth A.
Parker, James D. A.
Craig, Wendy M.
TI Executive functioning as a predictor of peer victimization in
adolescents with and without an Autism Spectrum Disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Adolescence; Bullying; Victimization; Executive function;
Pragmatic language
ID PRAGMATIC LANGUAGE; LEARNING-DISABILITIES; ASPERGER-SYNDROME; CHILDREN;
SCHOOL; EXPERIENCES; SKILLS; PERFORMANCE; ADJUSTMENT; DEPRESSION
AB The present study examined pragmatic language and executive functions (EF) as predictors of peer victimization in three groups: high-functioning adolescent boys with an Autism Spectrum Disorder (ASD) (n = 30); typically developing adolescent boys (n = 40); and adolescent boys (n = 22) without ASD with special education needs (SN). Controlling for age and bullying others, regression analyses revealed EF as measured by the Behavior Rating Inventory of Executive Functioning (Gioia et al., 2000) to be a significant predictor across all types of peer victimization (physical, social, and verbal) regardless of group membership. It is concluded that EF may play a pivotal role in explaining why some SN adolescents with and without ASD are at-risk for peer victimization. (C) 2014 Elsevier Ltd. All rights reserved.
C1 [Kloosterman, Patricia H.; Parker, James D. A.] Trent Univ, Dept Psychol, Peterborough, ON K9J 7B8, Canada.
[Kloosterman, Patricia H.; Kelley, Elizabeth A.; Craig, Wendy M.] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
RP Kelley, EA (reprint author), Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
EM kelleyb@queensu.ca
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NR 64
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 MAR
PY 2014
VL 8
IS 3
BP 244
EP 254
DI 10.1016/j.rasd.2013.12.006
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500011
ER
PT J
AU Canitano, R
Scandurra, V
AF Canitano, Roberto
Scandurra, Valeria
TI Glutamatergic agents in Autism Spectrum Disorders: Current trends
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Glutamate; Autism Spectrum Disorders; Novel treatments; Childhood and
adolescence
ID PERVASIVE DEVELOPMENTAL DISORDERS; FRAGILE-X-SYNDROME;
PLACEBO-CONTROLLED TRIAL; FAMILY-BASED ASSOCIATION; LONG-TERM
POTENTIATION; BTBR MOUSE MODEL; DOUBLE-BLIND; GLUTAMATE-RECEPTOR-6 GENE;
STEREOTYPIC BEHAVIORS; RECEPTOR EXPRESSION
AB Glutamate transmission dysfunction has been found in various preclinical models of Autism Spectrum Disorders (ASD), thus the glutamate system is a target for therapeutics. This report reviews current treatments for glutamate dysfunction in ASD models and clinical trials. Antagonists of metabotropic glutamate receptor subtype 5 (mGluR5) have been tested in preclinical models of autism. Black and Tan Bachyuric (BTBR) mice model behavioral phenotypes of the three core diagnostic domains of autism, e.g. social deficits, impaired language and communication, and repetitive behaviors. A significant reduction in repetitive self-grooming was observed after mGluR5 antagonist administration in BTBR mice. SHANK 3 deficient mice which have altered synaptic transmission and plasticity, were administered IGF-1 treatment to reverse these deficits based on the hypothesis that reduced AMPA receptor levels reflect less mature synapses. Clinical trials have been carried out in ASD with glutamate NMDA receptors, but current findings are not sufficient for conclusions on safety and efficacy. Memantine is an NMDA antagonist under investigation in controlled trials that hopefully will provide new insight on its use in autism. Studies using novel treatments with other glutamatergic agents are also underway and encouraging results have been observed with N-acetylcysteine in treating irritability in ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Canitano, Roberto; Scandurra, Valeria] Univ Hosp Siena, Div Child Neuropsychiat, I-53100 Siena, Italy.
RP Canitano, R (reprint author), Univ Hosp Siena, Div Child Neuropsychiat, Viale Bracci 1, I-53100 Siena, Italy.
EM canitano@unisi.it
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NR 87
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 MAR
PY 2014
VL 8
IS 3
BP 255
EP 265
DI 10.1016/j.rasd.2013.12.009
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500012
ER
PT J
AU Ryland, HK
Hysing, M
Posserud, MB
Gillberg, C
Lundervold, AJ
AF Ryland, Hilde K.
Hysing, Mari
Posserud, Maj-Britt
Gillberg, Christopher
Lundervold, Astri J.
TI Autistic features in school age children: IQ and gender effects in a
population-based cohort
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autistic features; IQ; ASSQ; Children; Gender
ID SPECTRUM SCREENING QUESTIONNAIRE; INTELLECTUAL DISABILITY; ASPERGER
SYNDROME; CORE SYMPTOMS; DOWN-SYNDROME; DISORDERS; PREVALENCE; ASSQ;
VALIDATION; PSYCHOPATHOLOGY
AB Level and characteristics of intellectual function (IQ) have been associated with symptom presentation in children with autism spectrum disorder. The present study examined associations between IQ and autistic features in a sample of school aged boys and girls selected from a population-based cohort. The study included detailed examinations of 325 children aged 8-12 years, selected from the sample of the Bergen Child Study. IQ was assessed using the third version of the Wechsler Intelligence Scale for Children (WISC-III) and autistic features by parent reports on the Autism Spectrum Screening Questionnaire (ASSQ). Boys obtained higher ASSQ scores than girls. Gender and FSIQ had main effects on ASSQ scores, with the ASSQ scores showing a gradual decline with higher FSIQ for both genders. Discrepancies between verbal and performance IQ were relatively unrelated to ASSQscores. The findings emphasize the importance of conducting careful assessments of children before reaching conclusions about cognitive function and autistic features. (C) 2013 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Ryland, Hilde K.; Lundervold, Astri J.] Univ Bergen, Dept Biol & Med Psychol, N-5020 Bergen, Norway.
[Ryland, Hilde K.; Hysing, Mari; Posserud, Maj-Britt; Lundervold, Astri J.] Uni Res, Uni Hlth, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-5020 Bergen, Norway.
[Posserud, Maj-Britt] Haukeland Hosp, Dept Child & Adolescent Psychiat, N-5021 Bergen, Norway.
[Lundervold, Astri J.] Univ Bergen, KG Jebsen Ctr Res Neuropsychiat Disorders, N-5009 Bergen, Norway.
[Gillberg, Christopher] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, SE-41119 Gothenburg, Sweden.
RP Ryland, HK (reprint author), Univ Bergen, Dept Biol & Med Psychol, Postbox 7807, N-5020 Bergen, Norway.
EM hilde.ryland@uni.no; mari.hysing@psybp.uib.no;
maj-britt.posserud@uni.no; christopher.gillberg@gnc.gu.se;
astri.lundervold@psybp.uib.no
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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Wechsler D, 1997, WECHSLER ADULT INTEL, V3rd
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Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd
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NR 48
TC 0
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 MAR
PY 2014
VL 8
IS 3
BP 266
EP 274
DI 10.1016/j.rasd.2013.12.001
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500013
ER
PT J
AU Persicke, A
Bishop, MR
Coffman, CM
Najdowski, AC
Tarbox, J
Chi, K
Dixon, DR
Granpeesheh, D
Adams, AN
Jang, J
Ranick, J
St Clair, M
Kenzer, AL
Sharaf, SS
Deering, A
AF Persicke, Angela
Bishop, Michele R.
Coffman, Christine M.
Najdowski, Adel C.
Tarbox, Jonathan
Chi, Kellee
Dixon, Dennis R.
Granpeesheh, Doreen
Adams, Amanda N.
Jang, Jina
Ranick, Jennifer
St Clair, Megan
Kenzer, Amy L.
Sharaf, Sara S.
Deering, Amanda
TI Evaluation of the concurrent validity of a skills assessment for autism
treatment
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Skills assessment; Curriculum; Validity
ID INTERVENTIONS
AB Accurate assessment is a critical prerequisite to meaningful curriculum programming for skill acquisition with children with autism spectrum disorder. The purpose of this study was to determine the validity of an indirect skills assessment. Concurrent validity of the assessment was evaluated by contrasting parent responses to participants' abilities, as indicated by direct observation of those skills. The degree to which parent report and direct observation were in agreement was measured by Pearson correlation coefficient for each curriculum area. Results indicated moderate to very high levels of agreement between parent report and direct observation of the behaviors. Results are discussed in terms of implications for efficiency of assessment and treatment. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Chi, Kellee; Adams, Amanda N.] Calif State Univ Fresno, Fresno, CA 93740 USA.
EM j.tarbox@centerforautism.com
CR American Academy of Child and Adolescent Psychiatry, 1999, J AM ACAD CHILD PSY, V38, p32S
Cooper J. O., 2007, APPL BEHAV ANAL
Gould E, 2011, RES AUTISM SPECT DIS, V5, P990, DOI 10.1016/j.rasd.2011.01.012
Hancock M. A., 2000, BEHAV ANAL TODAY, V1, P35
Lovaas O. I., 2003, TEACHING INDIVIDUALS
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Sigafoos J, 2008, PRACT RESOUR MENT, P165, DOI 10.1016/B978-012373606-2.50008-5
Sparrow SS, 2005, VINELAND ADAPTIVE BE
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 MAR
PY 2014
VL 8
IS 3
BP 281
EP 285
DI 10.1016/j.rasd.2013.12.011
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500015
ER
PT J
AU Einspieler, C
Sigafoos, J
Bartl-Pokorny, KD
Landa, R
Marschik, PB
Bolte, S
AF Einspieler, Christa
Sigafoos, Jeff
Bartl-Pokorny, Katrin D.
Landa, Rebecca
Marschik, Peter B.
Bolte, Sven
TI Highlighting the first 5 months of life: General movements in infants
later diagnosed with autism spectrum disorder or Rett syndrome
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Family videos; General movement assessment;
Infant; Rett syndrome; Spontaneous movements
ID MINOR NEUROLOGICAL DYSFUNCTION; FAMILY HOME MOVIES; EARLY
IDENTIFICATION; NERVOUS-SYSTEM; YOUNG-CHILDREN; EARLY MARKER;
SCHOOL-AGE; MOTOR; QUALITY; TODDLERS
AB We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RU). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Einspieler, Christa; Bartl-Pokorny, Katrin D.; Marschik, Peter B.] Med Univ Graz, Inst Physiol, Ctr Physiol Med, Res Unit iDN Interdisciplinary Dev Neurosci, A-8010 Graz, Austria.
[Sigafoos, Jeff] Victoria Univ Wellington, Sch Educ Psychol, Wellington, New Zealand.
[Landa, Rebecca] Ctr Autism & Related Disorders, Kennedy Krieger Inst, Baltimore, MD USA.
[Bolte, Sven] Karolinska Inst, Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, Stockholm, Sweden.
RP Marschik, PB (reprint author), Med Univ Graz, Inst Physiol, Harrachgasse 21-5, A-8010 Graz, Austria.
EM peter.marschik@yahoo.com
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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 MAR
PY 2014
VL 8
IS 3
BP 286
EP 291
DI 10.1016/j.rasd.2013.12.013
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500016
ER
PT J
AU Delahaye, J
Kovacs, E
Sikora, D
Hall, TA
Orlich, F
Clemons, TE
van der Weerd, E
Glick, L
Kuhlthau, K
AF Delahaye, Jennifer
Kovacs, Erica
Sikora, Darryn
Hall, Trevor A.
Orlich, Felice
Clemons, Traci E.
van der Weerd, Emma
Glick, Laura
Kuhlthau, Karen
TI The relationship between Health-Related Quality of Life and sleep
problems in children with Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism Spectrum Disorders; Health-Related Quality of Life; Sleep
problems; Pediatrics; PedsQL; Children's Sleep Habits Questionnaire
ID INTELLECTUAL DISABILITY; PSYCHOMETRIC PROPERTIES; HABITS QUESTIONNAIRE;
ADOLESCENTS; POPULATION; SYMPTOMS; PEDSQL(TM)-4.0; DISTURBANCES;
ASSOCIATIONS; RECOGNITION
AB Although children with Autism Spectrum Disorders (ASD) are thought to experience sleep problems at a much higher rate than typically developing peers, the relationship between sleep disturbance and Health-Related Quality of Life (HRQoL) has not been explored within this pediatric population. Further, little is understood about the HRQoL of children with ASD in general. This study assessed the HRQoL and sleep health of a sample of children with ASD and investigated the relationship between HRQoL and overall sleep problems within the context of key clinical characteristics. Study participants included 86 parents of children with ASD between the ages of 4 and 12 years. Subjects were recruited from 3 autism specialty clinics at large academic medical centers and asked to proxy-report on their children's HRQoL and sleep habits. Adjusted regression models showed a consistent negative relationship between sleep disturbance and HRQoL, with greater overall sleep problems being associated with poorer total, physical, and psychosocial HRQoL. Sleep duration and sleep anxiety were also found to be negatively associated with HRQoL. These findings suggest that treatments that are effective in treating sleep disturbances may improve children's HRQoL. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Delahaye, Jennifer; van der Weerd, Emma; Kuhlthau, Karen] Massachusetts Gen Hosp, Ctr Child & Adolescent Hlth Res & Policy, Boston, MA 02114 USA.
[Kovacs, Erica] Columbia Med Ctr, New York, NY 10019 USA.
[Sikora, Darryn; Hall, Trevor A.] Oregon Hlth & Sci Univ, Child Dev & Rehabil Ctr, Portland, OR 97207 USA.
[Orlich, Felice] Univ Washington, Seattle Childrens Hosp, CAC Autism Ctr 4909, Seattle, WA 98105 USA.
[Clemons, Traci E.] EMMES Corp, Rockville, MD 20850 USA.
[Glick, Laura] Tufts Univ, Somerville, MA 02144 USA.
RP Delahaye, J (reprint author), MGH CAHRP, 15th Floor C100,100 Cambridge St, Boston, MA 02114 USA.
EM jdelahaye@partners.org
CR Achenbach TM, 2001, MANUAL ASEBA PRESCHO
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NR 74
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 292
EP 303
DI 10.1016/j.rasd.2013.12.015
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500017
ER
PT J
AU Baeza-Velasco, C
Michelon, C
Rattaz, C
Baghdadli, A
AF Baeza-Velasco, Carolina
Michelon, Cecile
Rattaz, Cecile
Baghdadli, Amaria
TI Are Aberrant Behavioral patterns associated with the adaptive behavior
trajectories of teenagers with Autism Spectrum Disorders?
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Aberrant behaviors; Autism; Adolescence; Adaptive behavior trajectories
ID SEVERE INTELLECTUAL DISABILITIES; PERVASIVE DEVELOPMENTAL DISORDERS;
CHALLENGING BEHAVIORS; SOCIAL-SKILLS; TOTAL POPULATION; YOUNG-PEOPLE;
CHILDREN; CHECKLIST; PREVALENCE; ADULTS
AB This study aims to identify Aberrant Behavioral (AB) patterns in adolescents with Autism Spectrum Disorders (ASD) and to examine if these patterns are associated to their adaptive behavior trajectories. The Aberrant Behavior Checklist (ABC) was used to assess problems behaviors in a sample of 152 adolescents with ASD, whose adaptive behavior trajectories were described based on the Vineland communication and socialization scores. Clustering analyses were performed to identify AB patterns and univariate analyses to evaluate the association between AB patterns and adaptive behavior trajectories. We identified four clusters or AB patterns: (1) low scores in the ABC four domains, (2) high scores in irritability and hyperactivity, (3) medium scores in the four domains, and (4) medium level of irritability and high scores in stereotypy, lethargy and hyperactivity. These patterns were significantly linked to the adolescents' adaptive behavior trajectories. Most adolescents with a high trajectory (87%) were found in clusters 1 and 3, whereas adolescents with a low trajectory were equally distributed in the four clusters. Results suggest that while a high trajectory seems associated with a low level of AB, low trajectory is not necessarily associated with a high level of AB. Study limitations and clinical implications are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 CHRU Montpellier, Autism Resources Ctr, Montpellier, France.
Univ Montpellier, Lab Epsylon, EA 4556, Montpellier, France.
RP Baghdadli, A (reprint author), Autism Resources Ctr, 39 Ave Charles Flahault, F-34295 Montpellier 05, France.
EM a-baghdadli@chu-montpellier.fr
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NR 39
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 304
EP 311
DI 10.1016/j.rasd.2013.12.004
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500018
ER
PT J
AU Blacher, J
Howell, E
Lauderdale-Littin, S
Reed, FDD
Laugesond, EA
AF Blacher, Jan
Howell, Erica
Lauderdale-Littin, Stacy
Reed, Florence D. DiGennaro
Laugesond, Elizabeth A.
TI Autism spectrum disorder and the student teacher relationship: A
comparison study with peers with intellectual disability and typical
development
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Student-teacher relationships; Teacher conflict and closeness
ID HIGH-FUNCTIONING AUTISM; CHILD RELATIONSHIPS; SOCIAL-SKILLS; SYNDROME
SPECIFICITY; MENTAL-RETARDATION; BEHAVIOR PROBLEMS; PARENTING STRESS;
YOUNG-CHILDREN; SCHOOL; PRESCHOOL
AB This study examined relations among behavior problems, social skills, and student-teacher relationships within a sample of children (mean age 8) with autism spectrum disorders or ASD (n = 36) and comparison samples of children with typical development (n = 91) or with intellectual disability (n = 38.) Student-teacher relationships (STRs) for children with ASD appeared to be qualitatively different from those of similarly aged children with ID or typical development. The STRs for children with ASD were considerably poorer, with less closeness and more conflict, than in the two comparison groups. Within the group with ASD, teacher-reported child externalizing behavior and social skills accounted for significant variance in the total score on the Student Teacher Relationship Scale. Conflict was predicted only by externalizing behavior, whereas closeness was predicted by social skills; level of autistic mannerisms negatively related to the teacher's perception of closeness. Findings address the implications for transition to early schooling for children with ASD. (C) 2014 Published by Elsevier Ltd.
C1 [Blacher, Jan; Howell, Erica; Lauderdale-Littin, Stacy] Univ Calif Riverside, Grad Sch Educ, Riverside, CA 92521 USA.
[Reed, Florence D. DiGennaro] Melmark New England, Andover, MA USA.
[Laugesond, Elizabeth A.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Sherman Oaks, CA USA.
[Laugesond, Elizabeth A.] Help Grp UCLA Autism Res Alliance, Sherman Oaks, CA USA.
RP Blacher, J (reprint author), Univ Calif Riverside, Grad Sch Educ, 900 Univ Ave, Riverside, CA 92521 USA.
EM jan.blacher@ucr.edu; ehowell@fullerton.edu; slauderd@monmouth.edu;
fdreed@ku.edu; ELaugeson@mednet.ucla.edu
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NR 56
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 324
EP 333
DI 10.1016/j.rasd.2013.12.008
PG 10
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500021
ER
PT J
AU Mason, R
Kamps, D
Turcotte, A
Cox, S
Feldmiller, S
Miller, T
AF Mason, Rose
Kamps, Debra
Turcotte, Amy
Cox, Suzanne
Feldmiller, Sarah
Miller, Todd
TI Peer mediation to increase communication and interaction at recess for
students with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Elementary school; Recess; Social skills;
Communication; Peer mediation
ID SOCIAL-SKILLS INTERVENTIONS; INCLUSIVE SCHOOL SETTINGS; YOUNG-CHILDREN;
INITIATIONS; SOCIALIZATION; DISABILITIES; BEHAVIORS; TIME
AB Recess plays an integral role in the social and emotional development of children given the time provided to engage in interactions with others and practice important social skills. Students with ASD, however, typically fail to achieve even minimal benefit from recess due to social and communication impairments as well as a tendency to withdraw. Implementation of evidence-based interventions such as peer-mediated social skills groups, are necessary to ensure recess is an advantageous learning environment for students with ASD. A multiple-baseline design across participants was used to determine if a functional relationship exists between a social skills instructional program combined with peer networks with school staff as implementers and increases in level of communicative acts for participants with ASD at recess. Results indicate all participants demonstrated an immediate increase in the number of communicative acts with the introduction of the intervention. Implications for practice are discussed. Published by Elsevier Ltd.
C1 [Mason, Rose; Kamps, Debra; Turcotte, Amy; Cox, Suzanne; Feldmiller, Sarah; Miller, Todd] Univ Kansas, Juniper Gardens Childrens Project, Kansas City, KS 66101 USA.
RP Mason, R (reprint author), Univ Kansas, Juniper Gardens Childrens Project, Kansas City, KS 66101 USA.
EM rmason519@gmail.com; dkamps@ku.edu; amyturcotte@ku.edu; scox@ku.edu;
sfeldmiller@ku.edu; Tmiller3@ku.edu
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NR 42
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD MAR
PY 2014
VL 8
IS 3
BP 334
EP 344
DI 10.1016/j.rasd.2013.12.014
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AB0TR
UT WOS:000331505500022
ER
PT J
AU Mechling, LC
Ayres, KM
Purrazzella, K
Purrazzella, K
AF Mechling, Linda C.
Ayres, Kevin M.
Purrazzella, Kaitlin
Purrazzella, Kimberly
TI Continuous Video Modeling to Prompt Completion of Multi-Component Tasks
by Adults with Moderate Intellectual Disability
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID OF-THE-LITERATURE; AUTISM; SKILLS; INSTRUCTION; STUDENTS; CHILDREN
AB This investigation examined the ability of four adults with moderate intellectual disability to complete multi-component tasks using continuous video modeling. Continuous video modeling, which is a newly researched application of video modeling, presents video in a "looping" format which automatically repeats playing of the video while the individual completes a task. Four adult males, ages 29 to 35 years, with a diagnosis of Down syndrome and moderate intellectual disability, were participants in the study. A multiple probe design across three sets of multi-component tasks (folding multiple sizes of towels; sorting an assortment of recycling materials; preparing a buffet table with multiple serving stations) was used to evaluate the effectiveness of continuous video modeling. Overall results suggest that this newly explored method for presenting video models was an effective presentation mode for three of the four participants and for one participant when completing two of three tasks.
C1 [Mechling, Linda C.; Purrazzella, Kaitlin; Purrazzella, Kimberly] Univ N Carolina, Wilmington, NC 28403 USA.
[Ayres, Kevin M.] Univ Georgia, Athens, GA 30602 USA.
RP Mechling, LC (reprint author), Univ N Carolina, Dept Early Childhood & Special Educ, 601 S Coll Rd, Wilmington, NC 28403 USA.
EM mechlingl@uncw.edu
CR Allen K. D., 2010, EDUC TREAT CHILD, V33, P339, DOI DOI 10.1353/ETC.0.0101
Ayres K. M., 2010, SINGLE SUBJECT RES M, P329
Ayres KM, 2005, EDUC TRAIN DEV DISAB, V40, P183
Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401
Gast D. L., 2010, SINGLE SUBJECT RES M
Hammond DL, 2010, EDUC TRAIN AUTISM DE, V45, P525
Hermansen E, 2007, ED TREATMENT CHILDRE, V30, P183, DOI DOI 10.1353/ETC.2007.0029
Kinney EM, 2003, J POSIT BEHAV INTERV, V5, P22, DOI 10.1177/10983007030050010301
Mechling L, 2012, J DEV PHYS DISABIL, V24, P469, DOI 10.1007/s10882-012-9284-2
Mechling L., 2005, Journal of Special Education Technology, V20
Murzynski NT, 2007, BEHAV INTERVENT, V22, P147, DOI 10.1002/bin.224
Reeve S. A., 2010, EDUC TREAT CHILD, V33, P351, DOI DOI 10.1353/ETC.0.0103
Sancho K., 2010, EDUC TREAT CHILD, V33, P421, DOI DOI 10.1353/ETC.0.0097
Shipley-Benamou R, 2002, J POSIT BEHAV INTERV, V4, P165
Shukla-Mehta S, 2010, FOCUS AUTISM DEV DIS, V25, P23, DOI 10.1177/1088357609352901
Sparrow S, 1984, VINELAND ADAPTIVE BE
Taber-Doughty Teresa, 2008, Journal of Special Education Technology, V23
Thorndike RL, 1986, STANFORD BINET INTEL
Van Laarhoven T, 2007, ASSIST TECHNOL, V4, P28
Wechsler D, 1997, WECHSLER ADULT INTEL, V3rd
NR 20
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 3
EP 16
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200001
ER
PT J
AU Akmanoglu, N
Yanardag, M
Batu, ES
AF Akmanoglu, Nurgul
Yanardag, Mehmet
Batu, E. Sema
TI Comparing Video Modeling and Graduated Guidance together and Video
Modeling alone for Teaching Role Playing Skills to Children with Autism
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID CONSTANT-TIME DELAY; SPECTRUM DISORDERS; YOUNG-CHILDREN; PRETEND PLAY;
INTERVENTIONS; BEHAVIORS; SEQUENCES
AB Teaching play skills is important for children with autism. The purpose of the present study was to compare effectiveness and efficiency of providing video modeling and graduated guidance together and video modeling alone for teaching role playing skills to children with autism. The study was conducted with four students. The study was conducted by using adapted alternative treatments design. Four kinds of data were collected during the study: effectiveness, efficiency, social validity, and reliability. Both teaching methods were found to be effective in teaching target skills to children with autism. Results of the study were compared with the literature and some recommendations were addressed in the study.
C1 [Akmanoglu, Nurgul; Yanardag, Mehmet; Batu, E. Sema] Anadolu Univ, TR-26470 Eskisehir, Turkey.
RP Akmanoglu, N (reprint author), Anadolu Univ, Res Inst Handicapped, TR-26470 Eskisehir, Turkey.
EM nakmanoglu@anadolu.edu.tr
CR Akmanoglu N, 2011, AUTISM, V15, P205, DOI 10.1177/1362361309352180
ALCANTARA PR, 1994, EXCEPT CHILDREN, V61, P40
Apple AL, 2005, J POSIT BEHAV INTERV, V7, P33, DOI 10.1177/10983007050070010401
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BILLINGSLEY F, 1980, BEHAV ASSESS, V2, P229
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Callahan K., 2008, J AUTISM DEV DISORD, V28, P678
Cicero FR, 2002, RES DEV DISABIL, V23, P319, DOI 10.1016/S0891-4222(02)00136-1
D'Ateno P, 2003, J POSIT BEHAV INTERV, V5, P5, DOI 10.1177/10983007030050010801
Delano ME, 2007, REM SPEC EDUC, V28, P33, DOI 10.1177/07419325070280010401
Denny M., 2001, ED TREATMENT CHILDRE, V23, P441
Ergenekon Y., 2010, VIDEOYLA MODEL OLMA
Gene D., 2010, THESIS ANADOLU U ESK
Hermansen E, 2007, ED TREATMENT CHILDRE, V30, P183, DOI DOI 10.1353/ETC.2007.0029
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Holmes E, 2005, J INTELLECT DEV DIS, V30, P156, DOI 10.1080/13668250500204034
Kroeger KA, 2007, J AUTISM DEV DISORD, V37, P808, DOI 10.1007/s10803-006-0207-x
Kurt O, 2008, TOP EARLY CHILD SPEC, V28, P53, DOI 10.1177/0271121408316046
Luiselli K. L., 2008, EFFECTIVE PRACTICES
Lydon H, 2011, RES AUTISM SPECT DIS, V5, P872, DOI 10.1016/j.rasd.2010.10.002
MacDonald R, 2005, BEHAV INTERVENT, V20, P225, DOI 10.1002/bin.197
MacDonald R, 2009, J APPL BEHAV ANAL, V42, P43, DOI 10.1901/jaba.2009.42-43
Maione L, 2006, J POSIT BEHAV INTERV, V8, P106, DOI 10.1177/10983007060080020201
Marcus A, 2009, J APPL BEHAV ANAL, V42, P335, DOI 10.1901/jaba.2009.42-335
Naber FBA, 2008, J AUTISM DEV DISORD, V38, P857, DOI 10.1007/s10803-007-0454-5
National Autism Center, 2009, NAT STAND REP
Nikopoulos CK, 2007, J AUTISM DEV DISORD, V37, P678, DOI 10.1007/s10803-006-0195-x
Nikopoulos CK, 2004, J APPL BEHAV ANAL, V37, P93, DOI 10.1901/jaba.2004.37-93
Odom S. L., 2003, FOCUS AUTISM OTHER D, V18, P166, DOI DOI 10.1177/10883576030180030401
Palechka G., 2010, EDUC TREAT CHILD, V33, P457, DOI DOI 10.1353/ETC.0.0100
Reagon K. A., 2006, EDUC TREAT CHILD, V29, P517
Reed P, 2007, EXCEPT CHILDREN, V73, P417
Sancho K., 2010, EDUC TREAT CHILD, V33, P421, DOI DOI 10.1353/ETC.0.0097
Simpson R. L., 2007, EXCEPTIONALITY, V15, P203, DOI DOI 10.1080/09362830701655717
Soluaga D, 2008, RES AUTISM SPECT DIS, V2, P753, DOI 10.1016/j.rasd.2008.03.005
Tawney W. J., 1984, SINGLE SUBJECT RES S
Tekin-Iftar E., 2006, OZEL EGITIMDE YANLIS, V2nd
Terpstra J. E., 2002, FOCUS AUTISM OTHER D, V17, P119, DOI 10.1177/10883576020170020701
Wolery M., 1988, EFFECTIVE TEACHING P
Woods J., 2006, ED TREATMENT CHILDRE, V29, P437
NR 41
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 17
EP 31
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200002
ER
PT J
AU Ohtake, Y
Takeuchi, A
Watanabe, K
AF Ohtake, Yoshihisa
Takeuchi, Ai
Watanabe, Kentaro
TI Effects of Video Self-Modeling on Eliminating Public Undressing by
Elementary-Aged Students with Developmental Disabilities During
Urination
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID ASPERGER-SYNDROME; CHILDREN; AUTISM; INTERVENTION; ADOLESCENTS; SKILLS
AB This study investigated the effectiveness of video self-modeling (VSM) for eliminating the public undressing of two elementary-aged students with developmental disabilities during urination. A multiple-probe design across participants revealed that the degree of exposed body parts decreased immediately after introduction of VSM. However, exposure of buttocks was not eliminated for one student until a component of hero modeling was added to the VSM. The mechanism of eliminating public undressing by use of VSM and video self and hero modeling is discussed within a framework of motivating operation.
C1 [Ohtake, Yoshihisa] Okayama Univ, Okayama 7008530, Japan.
[Takeuchi, Ai; Watanabe, Kentaro] Okayama Univ, Special Sch, Fac Educ, Okayama 7008530, Japan.
RP Ohtake, Y (reprint author), Okayama Univ, Div Dev Studies & Support, Kita Ku, 3-1-1 Tsushima Naka, Okayama 7008530, Japan.
EM ohtake@cc.okayama-u.ac.jp
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Angell ME, 2011, FOCUS AUTISM DEV DIS, V26, P206, DOI 10.1177/1088357611421169
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Cihak David F, 2008, Journal of Special Education Technology, V23
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Ohta M., 1992, NINCHI HATTATSU CHIR
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Wikipedia, 2011, CHROM KEY
NR 30
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 32
EP 44
PG 13
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200003
ER
PT J
AU Evmenova, AS
Behrmann, MM
AF Evmenova, Anya S.
Behrmann, Michael M.
TI Enabling Access and Enhancing Comprehension of Video Content for
Postsecondary Students with Intellectual Disability
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID READING-COMPREHENSION; DEVELOPMENTAL-DISABILITIES; GENERAL CURRICULUM;
TEACH STUDENTS; INSTRUCTION; AUTISM; SKILLS; EDUCATION; DISORDERS;
ALIGNMENT
AB There is a great need for new innovative tools to integrate individuals with intellectual disability into educational experiences. This multiple baseline study examined the effects of various adaptations for improving factual and inferential comprehension of non-fiction videos by six postsecondary students with intellectual disability. Video adaptations included alternative narration, two types of captions (highlighted text and picture/word-based), and interactive video searching for answers. According to the visual and statistical analyses, students performed significantly better with adapted and interactive video clips. There was no difference between the types of captions. Furthermore, social validity interviews revealed that all students enjoyed the adapted and interactive videos and found them beneficial.
C1 [Evmenova, Anya S.; Behrmann, Michael M.] George Mason Univ, Fairfax, VA 22030 USA.
RP Evmenova, AS (reprint author), George Mason Univ, 4400 Univ Dr,MS 1F2, Fairfax, VA 22030 USA.
EM aevmenov@gmu.edu
CR Agran M, 2006, RES PRACT PERS SEV D, V31, P230
Ayres KM, 2006, EDUC TRAIN DEV DISAB, V41, P253
Ayres K. M., 2002, J SPECIAL ED TECHNOL, V17, P15
BLOOM BENJAMIN S., 1956, TAXONOMY ED OBJECTIV
Bottge BA, 2007, J SPEC EDUC, V41, P31, DOI 10.1177/00224669070410010301
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Browder D. M., 2006, TEACHING READING MAT
Browder DM, 2007, J SPEC EDUC, V41, P2, DOI 10.1177/00224669070410010101
Caroll S. Z., 2008, FOCUS EXCEPTIONAL CH, V40, P1
Casale-Giannola D, 2006, MENT RETARD, V44, P344, DOI 10.1352/0047-6765(2006)44[344:IAAUEO]2.0.CO;2
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Downing J. E., 1996, INCLUDING STUDENTS S
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SCRUGGS TE, 1987, REM SPEC EDUC, V8, P24
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NR 54
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 45
EP 59
PG 15
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200004
ER
PT J
AU Asaro-Saddler, K
AF Asaro-Saddler, Kristie
TI Self-Regulated Strategy Development: Effects on Writers with Autism
Spectrum Disorders
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID SCHOOL-AGE-CHILDREN; ASPERGER-SYNDROME; EXECUTIVE DYSFUNCTION; PLANNING
INSTRUCTION; STUDENTS; SKILLS; DISABILITIES; ADOLESCENTS; VALIDATION;
TEACHERS
AB This replication study examined the effects of a planning and self-regulation strategy on the story writing abilities of young children with autism spectrum disorders (ASD). Three second graders with ASD were taught a strategy for planning and writing a story using the self-regulated strategy development (SRSD) approach. After learning the strategy, students' stories included more story elements, were longer, and received higher scores on a holistic scale. In addition, increases in planning time were noted. Results support similar outcomes from Asaro-Saddler and Saddler (2010) and provide further evidence that the SRSD approach can improve the story writing abilities of young students with ASD. This study also extends the findings by demonstrating the special education teachers, rather than trained instructors, can effectively implement the strategy with fidelity.
C1 [Asaro-Saddler, Kristie] SUNY Albany, Albany, NY 12222 USA.
RP Asaro-Saddler, K (reprint author), SUNY Albany, Dept Educ & Counseling Psychol, Div Special Educ, ED 228, Albany, NY 12222 USA.
EM ksaddler@albany.edu
CR Asaro K, 2009, INTERV SCH CLIN, V44, P268, DOI 10.1177/1053451208330895
Asaro-Saddler K, 2010, EXCEPT CHILDREN, V77, P107
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Bereiter C., 1987, PSYCHOL WRITTEN COMP
Callahan K, 2008, J AUTISM DEV DISORD, V38, P678, DOI 10.1007/s10803-007-0434-9
Campbell JM, 2004, BEHAV MODIF, V28, P234, DOI 10.1177/0145445503259264
Delano M. F., 2007, FOCUS AUTISM OTHER D, V22, P252, DOI DOI 10.1177/10883576070220040701
Delano ME, 2007, J APPL BEHAV ANAL, V40, P345, DOI 10.1901/jaba.2007.50-06
Dib N, 2007, J APPL BEHAV ANAL, V40, P339, DOI 10.1901/jaba.2007.52-06
Falk-Ross F., 2004, TEACHING EXCEPTIONAL, V36, P48
Gabig CS, 2008, LANG SPEECH HEAR SER, V39, P498, DOI 10.1044/0161-1461(2008/07-0023)
Gall J., 2005, APPL ED RES PRACTICA
Gomez C. R., 2005, FOCUS AUTISM OTHER D, V20, P106, DOI [10.1177/10883576050200020101, DOI 10.1177/10883576050200020101]
Graham S., 2007, WRITING NEXT EFFECTI
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Kaufman A. S., 2004, KAUFMAN ASSESSMENT B
Koegel RL, 1999, SCHOOL PSYCHOL REV, V28, P576
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Mastropieri MA, 2009, BEHAV DISORDERS, V35, P19
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McCoy K. M., 2011, AUTISM TEACHERS PERS
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Tawney J. W., 1984, SINGLE SUBJECT RES S
Whalon K. J., 2009, FOCUS AUTISM OTHER D, V22, P3
Winter M., 2003, ASPERGER SYNDROME WH
NR 45
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 78
EP 91
PG 14
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200006
ER
PT J
AU Mayton, MR
Carter, SL
Zhang, J
Wheeler, JJ
AF Mayton, Michael R.
Carter, Stacy L.
Zhang, Jie
Wheeler, John J.
TI Intrusiveness of Behavioral Treatments for Children with Autism and
Developmental Disabilities: An Initial Investigation
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID CHALLENGING BEHAVIOR; SPECTRUM DISORDERS; YOUNG-CHILDREN; INTERVENTION;
ADULTS
AB The behaviors frequently displayed by students with autism can place them at risk for overly reactive behavior interventions with unwanted side effects. The current study examined the level of intrusiveness of behavioral treatments developed for 198 students with disabilities from 13 different states. Results demonstrated that students diagnosed with autism had proportionally more intrusive behavior interventions when compared to students in five other disability categories and indicated that many students with autism were unnecessarily subjected to highly intrusive behavior interventions. The implications of these findings are discussed, and recommendations for future research are provided.
C1 [Mayton, Michael R.] W Virginia Univ, Morgantown, WV 26506 USA.
[Carter, Stacy L.] Texas Tech Univ, Lubbock, TX 79409 USA.
[Zhang, Jie] SUNY Coll Brockport, Brockport, NY USA.
[Wheeler, John J.] E Tennessee State Univ, Johnson City, TN 37614 USA.
RP Mayton, MR (reprint author), W Virginia Univ, Dept Special Educ, 508-C Allen Hall, Morgantown, WV 26506 USA.
EM michael.mayton@mail.wvu.edu
CR Carter S. L., 2005, INT J SPECIAL ED, V20, P136
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NR 24
TC 1
Z9 1
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 92
EP 101
PG 10
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200007
ER
PT J
AU Post, M
Storey, K
Haymes, L
Campbell, C
Loughrey, T
AF Post, Michal
Storey, Keith
Haymes, Linda
Campbell, Camille
Loughrey, Tamara
TI Stalking Behaviors by Individuals with Autism Spectrum Disorders in
Employment Settings: Understanding Stalking Behavior and Developing
Appropriate Supports
SO EDUCATION AND TRAINING IN AUTISM AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
ID ASPERGER-SYNDROME; ADOLESCENTS; STALKERS
AB Stalking behavior in the workplace by individuals with Autism Spectrum Disorder (ASD) can be problematic and complicated for employers to address. Often employers have limited knowledge of the disorder and the unique social characteristics associated with ASD that place these individuals at risk for stalking. It is important that employers, employees with ASD, employment support providers, and employees without ASD understand the legal implications of stalking behavior as well as appropriate interventions. Interventions can include elements of positive behavior support such as a functional behavioral assessment along with an intervention plan. We discuss specific interventions that can be used in the work setting to improve social interaction and cover legal implications. Interventions include self-management tools, video feedback, participation in employee social skill groups, employer provided counseling benefit, and other possible support strategies. Becoming informed about legal protections in relation to stalking behavior can be addressed through understanding specific provisions of the American Disability Act and Section 504 of the Vocational Rehabilitation Act.
C1 [Post, Michal; Storey, Keith; Haymes, Linda] Touro Univ, Vallejo, CA 94592 USA.
RP Post, M (reprint author), Touro Univ, Grad Sch Educ, 1310 Club Dr, Vallejo, CA 94592 USA.
EM michal.post@tu.edu
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
Attwood T., 2007, COMPLETE GUIDE ASPER
Berney T, 2004, ADV PSYCHIAT TREATME, P341, DOI DOI 10.1192/APT.10.5.341
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Equal Employment Opportunity Commission, ENF GUID VIC EMPL LI
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WEHMAN P, 2001, SUPPORTED EMPLOYMENT
NR 41
TC 0
Z9 0
PU COUNCIL EXCEPTIONAL CHILDREN
PI ARLINGTON
PA 1110 N GLEBE RD, ARLINGTON, VA 22201-5704 USA
SN 2154-1647
J9 EDUC TRAIN AUTISM DE
JI Educ. Train. Autism Dev. Disabil.
PD MAR
PY 2014
VL 49
IS 1
BP 102
EP 110
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AB0RG
UT WOS:000331499200008
ER
PT J
AU Pebrel-Richard, C
Debost-Legrand, A
Eymard-Pierre, E
Greze, V
Kemeny, S
Gay-Bellile, M
Gouas, L
Tchirkov, A
Vago, P
Goumy, C
Francannet, C
AF Pebrel-Richard, Celine
Debost-Legrand, Anne
Eymard-Pierre, Eleonore
Greze, Victoria
Kemeny, Stephan
Gay-Bellile, Mathilde
Gouas, Laetitia
Tchirkov, Andrei
Vago, Philippe
Goumy, Carole
Francannet, Christine
TI An unusual clinical severity of 16p11.2 deletion syndrome caused by
unmasked recessive mutation of CLN3
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE 16p11.2 deletion syndrome; juvenile neuronal ceroid-lipofuscinosis;
hemizygous CLN3 mutation
ID NEURONAL CEROID-LIPOFUSCINOSES; BATTEN-DISEASE GENE; MICRODELETION
SYNDROME; PATIENT; PHENOTYPE; PROTEIN; OBESITY; PCR
AB With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (similar to 29.5 to similar to 30.1 Mb; Hg18) and the 220-kb distal deletion (similar to 28.74 to similar to 28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders.
C1 [Pebrel-Richard, Celine; Eymard-Pierre, Eleonore; Kemeny, Stephan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andrei; Vago, Philippe; Goumy, Carole] Univ Clermont1, UFR Med, CHU Estaing, F-63003 Clermont Ferrand 1, France.
[Pebrel-Richard, Celine; Eymard-Pierre, Eleonore; Kemeny, Stephan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andrei; Vago, Philippe; Goumy, Carole] Univ Clermont1, ERTICa, EA 4677, UFR Med, Clermont Ferrand, France.
[Debost-Legrand, Anne; Greze, Victoria; Francannet, Christine] CHU Estaing, Clermont Ferrand, France.
RP Pebrel-Richard, C (reprint author), Univ Clermont1, UFR Med, CHU Estaing, 1 Pl Lucie & Raymond Aubrac, F-63003 Clermont Ferrand 1, France.
EM cpebrel@chu-clermontferrand.fr
FU DGOS (Direction Generale de l'Offre de Soins)
FX We thank the patient and his family for their kind cooperation and
permission to publish this case. aCGH analysis was supported by grants
from the DGOS (Direction Generale de l'Offre de Soins).
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NR 23
TC 1
Z9 1
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 MAR
PY 2014
VL 22
IS 3
BP 369
EP 373
DI 10.1038/ejhg.2013.141
PG 5
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AA9DJ
UT WOS:000331393700016
PM 23860047
ER
PT J
AU Stockall, N
Dennis, LR
AF Stockall, Nancy
Dennis, Lindsay R.
TI Using Pivotal Response Training and Technology to Engage Preschoolers
With Autism in Conversations
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
ID SPECTRUM DISORDERS; TEACHING-CHILDREN; JOINT ATTENTION; LANGUAGE USE;
COMMUNICATION; INTERVENTIONS; PROFILES
C1 [Stockall, Nancy] Sam Houston State Univ, Huntsville, TX 77341 USA.
[Dennis, Lindsay R.] Florida State Univ, Tallahassee, FL 32306 USA.
RP Stockall, N (reprint author), Sam Houston State Univ, Teacher Educ Ctr, Box 2119, Huntsville, TX 77341 USA.
EM nxs016@shsu.edu
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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 1053-4512
EI 1538-4810
J9 INTERV SCH CLIN
JI Interv. Sch. Clin.
PD MAR
PY 2014
VL 49
IS 4
BP 195
EP 202
PG 8
WC Education, Special
SC Education & Educational Research
GA AA6JR
UT WOS:000331205100001
ER
PT J
AU Rodriguez, CD
Strnadova, I
Cumming, T
AF Rodriguez, Cathi Draper
Strnadova, Iva
Cumming, Therese
TI Using iPads With Students With Disabilities: Lessons Learned from
Students, Teachers, and Parents
SO INTERVENTION IN SCHOOL AND CLINIC
LA English
DT Article
ID AUTISM; SYSTEM; IPOD
C1 [Rodriguez, Cathi Draper] Calif State Univ, Seaside, CA 93940 USA.
[Strnadova, Iva; Cumming, Therese] Univ New S Wales, Sydney, NSW, Australia.
RP Rodriguez, CD (reprint author), Calif State Univ, Sch Educ, 100 Campus Ctr Bldg 59, Seaside, CA 93940 USA.
EM cdraperrodriguez@csumb.edu
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Walker H, 2011, J SPECIAL ED TECHNOL, V26, P59
Willingham WW, 2002, J EDUC MEAS, V39, P1, DOI 10.1111/j.1745-3984.2002.tb01133.x
NR 18
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 MAR
PY 2014
VL 49
IS 4
BP 244
EP 250
PG 7
WC Education, Special
SC Education & Educational Research
GA AA6JR
UT WOS:000331205100008
ER
PT J
AU Karvat, G
Kimchi, T
AF Karvat, Golan
Kimchi, Tali
TI Acetylcholine Elevation Relieves Cognitive Rigidity and Social
Deficiency in a Mouse Model of Autism
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE Autism; acetylcholine; dorsomedial striatum; mouse model; donepezil;
BTBR
ID SPECTRUM DISORDERS; CIRCUMSCRIBED INTERESTS; CAUDATE-NUCLEUS; INBRED
STRAINS; YOUNG-CHILDREN; BASAL GANGLIA; DONEPEZIL; MICE; STRIATUM; TASK
AB Autism spectrum disorders (ASD) are defined by behavioral deficits in social interaction and communication, repetitive stereotyped behaviors, and restricted interests/cognitive rigidity. Recent studies in humans and animal-models suggest that dysfunction of the cholinergic system may underlie autism-related behavioral symptoms. Here we tested the hypothesis that augmentation of acetylcholine (ACh) in the synaptic cleft by inhibiting acetylcholinesterase may ameliorate autistic phenotypes. We first administered the acetylcholinesterase inhibitor (AChEl) Donepezil systemically by intraperitoneal (i.p.) injections. Second, the drug was injected directly into the rodent homolog of the caudate nucleus, the dorsomedial striatum (DMS), of the inbred mouse strain BTBR T+tf/J (BTBR), a commonly-used model presenting all core autism-related phenotypes and expressing low brain ACh levels. We found that i.p. injection of AChEl to BTBR mice significantly relieved autism-relevant phenotypes, including decreasing cognitive rigidity, improving social preference, and enhancing social interaction, in a dose-dependent manner. Microinjection of the drug directly into the DMS, but not into the ventromedial striatum, led to significant amelioration of the cognitive-rigidity and social-deficiency phenotypes. Taken together, these findings provide evidence of the key role of the cholinergic system and the DMS in the etiology of ASD, and suggest that elevated cognitive flexibility may result in enhanced social attention. The potential therapeutic effect of AChEls in ASD patients is discussed.
C1 [Karvat, Golan; Kimchi, Tali] Weizmann Inst Sci, Dept Neurobiol, IL-76100 Rehovot, Israel.
RP Kimchi, T (reprint author), Weizmann Inst Sci, Dept Neurobiol, 234 Herzel St, IL-76100 Rehovot, Israel.
EM tali.kimchi@weizmann.ac.il
FU Nella and Leon Benoziyo Center; Kekst Family Institute for Medical
Genetics; Jonathan and Joan Birnbach foundation
FX This work was supported by the Nella and Leon Benoziyo Center, Kekst
Family Institute for Medical Genetics, an Jonathan and Joan Birnbach
foundation (TK). The authors declare no conflict of interest.
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NR 52
TC 9
Z9 9
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD MAR
PY 2014
VL 39
IS 4
BP 831
EP 840
DI 10.1038/npp.2013.274
PG 10
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA AA8KV
UT WOS:000331345300007
PM 24096295
ER
PT J
AU Iwanaga, R
Honda, S
Nakane, H
Tanaka, K
Toeda, H
Tanaka, G
AF Iwanaga, Ryoichiro
Honda, Sumihisa
Nakane, Hideyuki
Tanaka, Koji
Toeda, Haruka
Tanaka, Goro
TI Pilot Study: Efficacy of Sensory Integration Therapy for Japanese
Children with High-Functioning Autism Spectrum Disorder
SO OCCUPATIONAL THERAPY INTERNATIONAL
LA English
DT Article
DE paediatric occupational therapy; sensory integrative therapy; autism
spectrum disorder
ID DEVELOPMENTAL COORDINATION DISORDER; OCCUPATIONAL-THERAPY; MODULATION
DISORDER; INTERVENTIONS; PERFORMANCE; PARTICIPATION; PROGRAM
AB This study's objective was to investigate the efficacy of sensory integration therapy (SIT) for children with high-functioning autism spectrum disorder (HFASD). The subjects were 20 HFASD children with IQs above 70 selected from previously collected data. Eight participated in individual SIT sessions, and 12 participated in group therapy (GT) including social skill training, communication training, kinetic activities, and child-parent play for 8-10 months. Changes in Total score and five Index scores on the Japanese version of the Miller Assessment for Preschoolers before and after therapy between children in the SIT and GT groups were compared. The results showed that Total score and all Index scores except for Verbal Index increased significantly in the SIT group, while only Total score increased in the GT group. Furthermore, the SIT group showed more improvement compared with the GT group in Total score and on Coordination, Non-verbal, and Complex Index scores. SIT might have a more positive effect on motor coordination abilities, non-verbal cognitive abilities, and combined abilities of sensory motor and cognition in children with HFASD when compared with GT. This study has limitations such as being an analysis of previously collected data. Further study should be conducted with a randomized control trial. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Iwanaga, Ryoichiro; Honda, Sumihisa; Nakane, Hideyuki; Tanaka, Koji; Toeda, Haruka; Tanaka, Goro] Nagasaki Univ, Grad Sch Biomed Sci, Div Phys & Occupat Therapy, Dept Hlth Sci, Nagasaki 8528520, Japan.
RP Iwanaga, R (reprint author), Nagasaki Univ, Grad Sch Biomed Sci, Div Phys & Occupat Therapy, Dept Hlth Sci, 1-7-1 Sakamoto, Nagasaki 8528520, Japan.
EM iwanagar@nagasaki-u.ac.jp
RI Cheung, Phoebe/M-9011-2014
OI Cheung, Phoebe/0000-0003-3190-9949
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NR 37
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0966-7903
EI 1557-0703
J9 OCCUP THER INT
JI Occup. Ther. Int.
PD MAR
PY 2014
VL 21
IS 1
SI SI
BP 4
EP 11
DI 10.1002/oti.1357
PG 8
WC Rehabilitation
SC Rehabilitation
GA AA9YW
UT WOS:000331450000002
PM 23893373
ER
PT J
AU Gee, BM
Thompson, K
St John, H
AF Gee, Bryan M.
Thompson, Kelly
St John, Holly
TI Efficacy of a Sound-based Intervention with a Child with an Autism
Spectrum Disorder and Auditory Sensory Over-responsivity
SO OCCUPATIONAL THERAPY INTERNATIONAL
LA English
DT Article
DE autism spectrum disorder; sound-based intervention; sensory
over-responsivity
ID OCCUPATIONAL-THERAPY; HYPERACUSIS; INTEGRATION; STIMULI
AB Sound-based interventions (SBIs) are being used by paediatric occupational therapists to help children with autism spectrum disorders and co-morbid sensory processing disorders. A limited yet growing body of evidence is emerging related to the efficacy of SBIs in reducing sensory processing deficits among paediatric clients with co-morbid conditions. The current study employed an ABA single-subject case-controlled design, implementing The Listening Program((R)) with a 7-year-old child diagnosed with autism spectrum disorder who demonstrated auditory sensory over-responsivity (SOR). The intervention consisted of 10 weeks of psycho-acoustically modified classical music that was delivered using specialized headphones and amplifier and a standard CD player. Repeated measures were conducted during the A(1), B and A(2) phases of the study using the Sensory Processing Measure, a subjective caregiver questionnaire, and the Sensory Over-Responsivity Scales, an examiner-based assessment measure to track changes of the participant's auditory SOR-related behaviours. The results indicated that the participant exhibited a decrease in the number of negative (avoidant, verbal and physical negative) and self-stimulatory behaviours. The decreases in negative and self-stimulatory behaviour may have been due to the therapeutic effect of the repeated exposure to the Sensory Over-Responsivity Scales or The Listening Program SBI. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Gee, Bryan M.; Thompson, Kelly] Idaho State Univ, Dept Phys & Occupat Therapy, Pocatello, ID 83209 USA.
[St John, Holly] CAMP Hippo Pediat Therapy LLC, Idaho, ID USA.
RP Gee, BM (reprint author), Idaho State Univ, Dept Phys & Occupat Therapy, Pocatello, ID 83209 USA.
EM geebrya@isu.edu
RI Cheung, Phoebe/M-9011-2014
OI Cheung, Phoebe/0000-0003-3190-9949
FU Department of Physical and Occupational Therapy of Idaho State
University; Sensory Processing Disorder Foundation; Advanced Brain
Technologies; Wal-Mart
FX The authors would like to thank the Department of Physical and
Occupational Therapy of Idaho State University, the Sensory Processing
Disorder Foundation, Advanced Brain Technologies and Wal-Mart for
providing additional funding, materials and supplies and the space to
conduct the case study.
CR Advanced Brain Technologies, 2013, LIST PROGR
Advanced Brain Technologies, 2009, LIST PROGR TRAIN MAN
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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 0966-7903
EI 1557-0703
J9 OCCUP THER INT
JI Occup. Ther. Int.
PD MAR
PY 2014
VL 21
IS 1
SI SI
BP 12
EP 20
DI 10.1002/oti.1359
PG 9
WC Rehabilitation
SC Rehabilitation
GA AA9YW
UT WOS:000331450000003
PM 24532098
ER
PT J
AU Stevens, WD
Spreng, RN
AF Stevens, W. Dale
Spreng, R. Nathan
TI Resting-state functional connectivity MRI reveals active processes
central to cognition
SO WILEY INTERDISCIPLINARY REVIEWS-COGNITIVE SCIENCE
LA English
DT Article
ID DEFAULT-MODE NETWORK; FREQUENCY BOLD FLUCTUATIONS; SPONTANEOUS NEURAL
ACTIVITY; AUTISM SPECTRUM DISORDERS; RIGHT CEREBRAL HEMISPHERE;
EVENT-RELATED FMRI; WORD FORM AREA; HUMAN BRAIN; INDIVIDUAL VARIABILITY;
INTRINSIC CONNECTIVITY
AB Analysis of spontaneously correlated low-frequency activity fluctuations across the brain using functional magnetic resonance imaging (MRI)commonly referred to as resting-state functional connectivity (RSFC) MRIwas initially seen as a useful tool for mapping functional-anatomic networks in the living human brain, characterizing brain changes and differences in clinical populations, and studying comparative anatomy across species. However, little was known about the potential relevance of RSFC to cognitive processes. Indeed, there has been considerable controversy and debate as to the utility of studying the resting-state in cognitive neuroscience. However, recent work has shown that RSFC, rather than merely reflecting passive or epiphenomenal activity within underlying functional-anatomic networks, reveals important dynamic processes that play an active role in cognition. RSFC has been associated with individual differences in a number of behavioral and cognitive domains, including perception, language, learning and memory, and the organization of conceptual knowledge. In this article, we review and integrate the latest research demonstrating that RSFC is functionally relevant to human behavior and higher-level cognition, and propose a hypothesis regarding its mechanism of action on functional network dynamics and cognition. We conclude that RSFC MRI will be an invaluable tool for future discovery of the fundamental neurocognitive interactions that underlie cognition. WIREs Cogn Sci 2014, 5:233-245. doi: 10.1002/wcs.1275 Conflict of interest: The authors have declared no conflicts of interest for this article. For further resources related to this article, please visit the .
C1 [Stevens, W. Dale] York Univ, Dept Psychol, Cognit & Aging Neurosci Lab, Toronto, ON M3J 2R7, Canada.
[Spreng, R. Nathan] Cornell Univ, Dept Human Dev, Lab Brain & Cognit, Ithaca, NY USA.
RP Stevens, WD (reprint author), York Univ, Dept Psychol, Cognit & Aging Neurosci Lab, Toronto, ON M3J 2R7, Canada.
EM stevensd@yorku.ca; nathan.spreng@gmail.com
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NR 116
TC 3
Z9 3
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-5078
EI 1939-5086
J9 WIRES COGN SCI
JI Wiley Interdiscip. Rev.-Cogn. Sci.
PD MAR
PY 2014
VL 5
IS 2
BP 233
EP 245
DI 10.1002/wcs.1275
PG 13
WC Psychology, Experimental
SC Psychology
GA AA6KT
UT WOS:000331207900009
ER
PT J
AU Hecht, PM
Will, MJ
Schachtman, TR
Welby, LM
Beversdorf, DQ
AF Hecht, Patrick M.
Will, Matthew J.
Schachtman, Todd R.
Welby, Lauren M.
Beversdorf, David Q.
TI Beta-adrenergic antagonist effects on a novel cognitive flexibility task
in rodents
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Noradrenergic; Propranolol; Problem solving; Creativity; Cognitive
flexibility; Attentional set-shifting
ID PREFRONTAL SEROTONIN DEPLETION; AUTISM SPECTRUM DISORDER; ACUTE COCAINE
WITHDRAWAL; NORADRENERGIC MODULATION; TRYPTOPHAN DEPLETION; EMOTIONAL
EVENTS; FRONTAL-CORTEX; PROPRANOLOL; RAT; MEMORY
AB Previous work examining animal models of cognitive flexibility have focused on tasks where animals are required to shift between cues in order to reach a food reward from among a limited set of choices. Performance by nonhuman animals on these tasks, including reversal learning, intradimensional set-shifting, and extradimensional set-shifting, are affected by pharmacological action on serotonergic, dopaminergic, and alpha-adrenergic, but not beta-adrenergic receptors. However, beta-adrenergic antagonists, such as propranolol, are widely utilized for conditions such as test anxiety. Propranolol improves performance in humans during cognitive flexibility tasks where there is a broad set of potential solutions. The current investigation utilized a digging task where the rodent must develop a novel solution in order to obtain a reward. Similar to the effects observed in humans, propranolol improved performance on this task, while not affecting performance on set-shifting tasks, as with previous animal studies. This may allow future investigation of the neurobiological mechanism by which propranolol affects context-specific anxiety, and could provide insight into the neurobiology of creativity. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Hecht, Patrick M.; Will, Matthew J.; Schachtman, Todd R.; Beversdorf, David Q.] Univ Missouri, Interdisciplinary Neuroscience Program, Columbia, MO 65211 USA.
[Hecht, Patrick M.; Will, Matthew J.; Beversdorf, David Q.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorder, Columbia, MO 65211 USA.
[Hecht, Patrick M.; Beversdorf, David Q.] Univ Missouri, Ctr Translat Neurosci, Columbia, MO 65211 USA.
[Will, Matthew J.] Univ Missouri, Christopher Bond Life Sci Ctr, Columbia, MO 65211 USA.
[Will, Matthew J.; Schachtman, Todd R.; Welby, Lauren M.; Beversdorf, David Q.] Univ Missouri, Dept Psychol Sci, Columbia, MO 65211 USA.
[Beversdorf, David Q.] Univ Missouri, Dept Radiol, Columbia, MO 65211 USA.
[Beversdorf, David Q.] Univ Missouri, Dept Neurol, Columbia, MO 65211 USA.
RP Beversdorf, DQ (reprint author), Dept Radiol, DC069-10,One Hosp Dr, Columbia, MO 65212 USA.
EM pmhp6d@mail.missouri.edu; willm@missouri.edu; schachtmant@missouri.edu;
lmwy9b@mail.missouri.edu; beversdorfd@health.missouri.edu
FU University of Missouri Mission Enhancement/Radiology Startup Funds
FX We would like to thank Dr. Troy Zars, Bradley Ferguson, and Jill Hampton
for their contributions to this study. This study was funded by the
University of Missouri Mission Enhancement/Radiology Startup Funds. Dr.
Beversdorf is funded as the William and Nancy Thompson Endowed Chair in
Radiology.
CR Alexander JK, 2007, J COGNITIVE NEUROSCI, V19, P468, DOI 10.1162/jocn.2007.19.3.468
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NR 40
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD MAR 1
PY 2014
VL 260
BP 148
EP 154
DI 10.1016/j.bbr.2013.11.041
PG 7
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AA2FB
UT WOS:000330909400018
PM 24300890
ER
PT J
AU Wehman, PH
Schall, CM
McDonough, J
Kregel, J
Brooke, V
Molinelli, A
Ham, W
Graham, CW
Riehle, JE
Collins, HT
Thiss, W
AF Wehman, Paul H.
Schall, Carol M.
McDonough, Jennifer
Kregel, John
Brooke, Valerie
Molinelli, Alissa
Ham, Whitney
Graham, Carolyn W.
Riehle, J. Erin
Collins, Holly T.
Thiss, Weston
TI Competitive Employment for Youth with Autism Spectrum Disorders: Early
Results from a Randomized Clinical Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Transition to employment; Applied behavior analysis;
Positive behavior support; Project SEARCH
ID INTENSITY SCALE SIS; YOUNG-ADULTS; TRANSITION; DISABILITIES; SCHOOL
AB For most youth with autism spectrum disorders (ASD), employment upon graduation from high school or college is elusive. Employment rates are reported in many studies to be very low despite many years of intensive special education services. This paper presented the preliminary results of a randomized clinical trial of Project SEARCH plus ASD Supports on the employment outcomes for youth with ASD between the ages of 18-21 years of age. This model provides very promising results in that the employment outcomes for youth in the treatment group were much higher in non-traditional jobs with higher than minimum wage incomes than for youth in the control condition. Specifically, 21 out of 24 (87.5 %) treatment group participants acquired employment while 1 of 16 (6.25 %) of control group participants acquired employment.
C1 [Wehman, Paul H.; Graham, Carolyn W.] Virginia Commonwealth Univ, Dept Phys Med & Rehabil, Richmond, VA 23298 USA.
[Wehman, Paul H.; Schall, Carol M.; McDonough, Jennifer; Kregel, John; Brooke, Valerie; Molinelli, Alissa; Ham, Whitney; Collins, Holly T.] Virginia Commonwealth Univ, Rehabil Res & Training Ctr, Richmond, VA 23284 USA.
[Schall, Carol M.] Virginia Commonwealth Univ, VCU Autism Ctr Excellence, Sch Educ, Dept Special Educ & Disabil Policy, Richmond, VA 23284 USA.
[Kregel, John] Virginia Commonwealth Univ, Sch Educ, Dept Special Educ & Disabil Policy, Richmond, VA 23284 USA.
[Riehle, J. Erin] Cincinnati Childrens Hosp Med Ctr, Div Disabil Serv, Cincinnati, OH 45229 USA.
[Thiss, Weston] St Marys Hosp, Richmond, VA 23226 USA.
RP Schall, CM (reprint author), Virginia Commonwealth Univ, VCU Autism Ctr Excellence, Sch Educ, Dept Special Educ & Disabil Policy, Box 842011, Richmond, VA 23284 USA.
EM cmschall@vcu.edu
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NR 22
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 MAR
PY 2014
VL 44
IS 3
BP 487
EP 500
DI 10.1007/s10803-013-1892-x
PG 14
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100001
PM 23893098
ER
PT J
AU Maljaars, J
Boonen, H
Lambrechts, G
Van Leeuwen, K
Noens, I
AF Maljaars, Jarymke
Boonen, Hannah
Lambrechts, Greet
Van Leeuwen, Karla
Noens, Ilse
TI Maternal Parenting Behavior and Child Behavior Problems in Families of
Children and Adolescents with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Parenting behavior; Autism spectrum disorder; Externalizing behavior
problems; Internalizing behavior problems
ID DIFFICULTIES QUESTIONNAIRE; PRESCHOOL-CHILDREN; EMOTIONAL-PROBLEMS;
COMMUNITY SAMPLE; YOUNG-CHILDREN; STRESS; ADULTS; MODERATORS; STRENGTHS;
PSYCHOPATHOLOGY
AB Parents of a child with autism spectrum disorder (ASD) face specific challenges in parenting, but concrete parenting behavior has never been properly investigated in these families. This exploratory questionnaire study compared parenting behaviors among mothers of children and adolescents with ASD (n = 552) and without ASD (n = 437) and examined associations between child behavior problems and parenting behavior. Results showed that mothers of children with ASD reported significantly lower scores on Rules and Discipline and higher scores on Positive Parenting, Stimulating the Development, and Adapting the Environment. Age was differently related to parenting behavior in the ASD versus control group. Furthermore, distinctive correlation patterns between parenting behavior and externalizing or internalizing behavior problems were found for both groups.
C1 [Maljaars, Jarymke; Boonen, Hannah; Lambrechts, Greet; Van Leeuwen, Karla; Noens, Ilse] Univ Leuven KU Leuven, Parenting & Special Educ Res Unit, B-3000 Louvain, Belgium.
[Maljaars, Jarymke; Boonen, Hannah; Lambrechts, Greet; Noens, Ilse] Leuven Autism Res LAuRes, Louvain, Belgium.
RP Maljaars, J (reprint author), Univ Leuven KU Leuven, Parenting & Special Educ Res Unit, Leopold Vanderkelenstraat 32,Box 3765, B-3000 Louvain, Belgium.
EM jarymke.maljaars@ppw.kuleuven.be
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NR 69
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 MAR
PY 2014
VL 44
IS 3
BP 501
EP 512
DI 10.1007/s10803-013-1894-8
PG 12
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100002
PM 23881094
ER
PT J
AU Brosnan, M
Chapman, E
Ashwin, C
AF Brosnan, Mark
Chapman, Emma
Ashwin, Chris
TI Adolescents with Autism Spectrum Disorder Show a Circumspect Reasoning
Bias Rather than 'Jumping-to-Conclusions'
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Jumping-to-conclusions; Reasoning bias; Decision-making
ID HIGH-FUNCTIONING AUTISM; EMPATHY QUOTIENT EQ; GENERAL-POPULATION;
ASPERGER-SYNDROME; COMPLEX EMOTIONS; SOCIAL-COGNITION; DECISION-MAKING;
PSYCHOSIS; ADULTS; INDIVIDUALS
AB People with autism spectrum disorders (ASD) often take longer to make decisions. The Autism-Psychosis Model proposes that people with autism and psychosis show the opposite pattern of results on cognitive tasks. As those with psychosis show a jump-to-conclusions reasoning bias, those with ASD should show a circumspect reasoning bias. Jumping-to-conclusions was assessed in a sample of 20 adolescents with ASD and 23 age-matched controls using the jumping-to-conclusions beads task. Both groups demonstrated equivalent levels of confidence in decision-making, however the ASD group required more beads than controls before making their decision. Furthermore, there was a positive correlation between the beads required and degree of autism symptoms. Consistent with the Autism-Psychosis Model, a more circumspect reasoning bias was evident in ASD.
C1 [Brosnan, Mark; Chapman, Emma; Ashwin, Chris] Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England.
RP Brosnan, M (reprint author), Univ Bath, Dept Psychol, Bath BA2 7AY, Avon, England.
EM M.J.Brosnan@Bath.ac.uk
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Baron-Cohen S., 2003, ESSENTIAL DIFFERENCE
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NR 52
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAR
PY 2014
VL 44
IS 3
BP 513
EP 520
DI 10.1007/s10803-013-1897-5
PG 8
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100003
PM 24002414
ER
PT J
AU Dadds, MR
MacDonald, E
Cauchi, A
Williams, K
Levy, F
Brennan, J
AF Dadds, Mark R.
MacDonald, Elayne
Cauchi, Avril
Williams, Katrina
Levy, Florence
Brennan, John
TI Nasal Oxytocin for Social Deficits in Childhood Autism: A Randomized
Controlled Trial
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Oxytocin; Children; Randomized controlled trial
ID SPECTRUM DISORDERS; AFFILIATIVE BEHAVIOR; INTRANASAL OXYTOCIN; CHILDREN;
HUMANS; BRAIN; INTERVENTIONS; VASOPRESSIN; COGNITION; PEPTIDE
AB The last two decades have witnessed a surge in research investigating the application of oxytocin as a method of enhancing social behaviour in humans. Preliminary evidence suggests oxytocin may have potential as an intervention for autism. We evaluated a 5-day 'live-in' intervention using a double-blind randomized control trial. 38 male youths (7-16 years old) with autism spectrum disorders were administered 24 or 12 international units (depending on weight) intranasal placebo or oxytocin once daily over four consecutive days. The oxytocin or placebo was administered during parent-child interaction training sessions. Parent and child behaviours were assessed using parent reports, clinician ratings, and independent observations, at multiple time points to measure side-effects; social interaction skills; repetitive behaviours; emotion recognition and diagnostic status. Compared to placebo, intranasal oxytocin did not significantly improve emotion recognition, social interaction skills, or general behavioral adjustment in male youths with autism spectrum disorders. The results show that the benefits of nasal oxytocin for young individuals with autism spectrum disorders may be more circumscribed than suggested by previous studies, and suggest caution in recommending it as an intervention that is broadly effective.
C1 [Dadds, Mark R.; MacDonald, Elayne; Cauchi, Avril] Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
[Williams, Katrina] Univ Melbourne, Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Levy, Florence; Brennan, John] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
RP Dadds, MR (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
EM m.dadds@unsw.edu.au
RI Williams, Katrina/B-6828-2015
OI Williams, Katrina/0000-0002-1686-4458
CR Adolphs R, 2001, J COGNITIVE NEUROSCI, V13, P232, DOI 10.1162/089892901564289
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Young LJ, 2002, BIOL PSYCHIAT, V51, P18, DOI 10.1016/S0006-3223(01)01268-9
NR 55
TC 12
Z9 12
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 MAR
PY 2014
VL 44
IS 3
BP 521
EP 531
DI 10.1007/s10803-013-1899-3
PG 11
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100004
PM 23888359
ER
PT J
AU Schohl, KA
Van Hecke, AV
Carson, AM
Dolan, B
Karst, J
Stevens, S
AF Schohl, Kirsten A.
Van Hecke, Amy V.
Carson, Audrey Meyer
Dolan, Bridget
Karst, Jeffrey
Stevens, Sheryl
TI A Replication and Extension of the PEERS Intervention: Examining Effects
on Social Skills and Social Anxiety in Adolescents with Autism Spectrum
Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Asperger's disorder; ASD; Adolescence; PEERS; Intervention;
Social skills; Social anxiety; Friendships
ID HIGH-FUNCTIONING AUTISM; CHILDREN; FRIENDSHIP; SCALE; OUTCOMES; PROGRAM;
TEENS
AB This study aimed to evaluate the Program for the Education and Enrichment of Relational Skills (PEERS: Laugeson et al. in J Autism Dev Disord 39(4):596-606, 2009). PEERS focuses on improving friendship quality and social skills among adolescents with higher-functioning ASD. 58 participants aged 11-16 years-old were randomly assigned to either an immediate treatment or waitlist comparison group. Results revealed, in comparison to the waitlist group, that the experimental treatment group significantly improved their knowledge of PEERS concepts and friendship skills, increased in their amount of get-togethers, and decreased in their levels of social anxiety, core autistic symptoms, and problem behaviors from pre-to post-PEERS. This study provides the first independent replication and extension of the empirically-supported PEERS social skills intervention for adolescents with ASD.
C1 [Schohl, Kirsten A.; Van Hecke, Amy V.; Carson, Audrey Meyer; Dolan, Bridget; Karst, Jeffrey; Stevens, Sheryl] Marquette Univ, Dept Psychol, Milwaukee, WI 53201 USA.
RP Schohl, KA (reprint author), Marquette Univ, Dept Psychol, POB 1881, Milwaukee, WI 53201 USA.
EM kirsten.schohl@mu.edu
CR Aldridge FJ, 2012, J AUTISM DEV DISORD, V42, P294, DOI 10.1007/s10803-011-1242-9
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Centers for Disease Control and Prevention, 2012, AUTISM SPECTRUM DISO
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Laugeson EA, 2009, J AUTISM DEV DISORD, V39, P596, DOI 10.1007/s10803-008-0664-5
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Lord C., 2001, AUTISM DIAGNOSTIC OB
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White SW, 2010, CLIN CHILD FAM PSYCH, V13, P77, DOI 10.1007/s10567-009-0062-3
NR 45
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 MAR
PY 2014
VL 44
IS 3
BP 532
EP 545
DI 10.1007/s10803-013-1900-1
PG 14
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100005
PM 23893101
ER
PT J
AU Venker, CE
Ray-Subramanian, CE
Bolt, DM
Weismer, SE
AF Venker, Courtney E.
Ray-Subramanian, Corey E.
Bolt, Daniel M.
Weismer, Susan Ellis
TI Trajectories of Autism Severity in Early Childhood
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism severity; Growth trajectories; Calibrated severity scores;
Functional skill trajectories
ID DIAGNOSTIC OBSERVATION SCHEDULE; STANDARDIZED ADOS SCORES; SPECTRUM
DISORDERS; REPETITIVE BEHAVIORS; CHILDREN; LANGUAGE; PRESCHOOLERS;
REGRESSION; TODDLERS; VALIDITY
AB Relatively little is known about trajectories of autism severity using calibrated severity scores (CSS) from the Autism Diagnostic Observation Schedule, but characterizing these trajectories has important theoretical and clinical implications. This study examined CSS trajectories during early childhood. Participants were 129 children with autism spectrum disorder evaluated annually from ages 2A1/2 to 5A1/2. The four severity trajectory classes that emerged-Persistent High (n = 47), Persistent Moderate (n = 54), Worsening (n = 10), and Improving (n = 18)-were strikingly similar to those identified by Gotham et al. (Pediatrics 130(5):e1278-e1284, 2012). Children in the Persistent High trajectory class had the most severe functional skill deficits in baseline nonverbal cognition and daily living skills and in receptive and expressive language growth.
C1 [Venker, Courtney E.; Weismer, Susan Ellis] Univ Wisconsin, Dept Commun Sci & Disorders, Madison, WI 53705 USA.
[Venker, Courtney E.; Ray-Subramanian, Corey E.; Bolt, Daniel M.; Weismer, Susan Ellis] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Bolt, Daniel M.] Univ Wisconsin, Dept Educ Psychol, Madison, WI 53706 USA.
RP Venker, CE (reprint author), Univ Wisconsin, Dept Commun Sci & Disorders, 1500 Highland Ave,Waisman Ctr Room 475, Madison, WI 53705 USA.
EM cgerickson@wisc.edu
CR Bedford R., 2012, J CHILD LANG, V40, P29
Bishop SL, 2011, AJIDD-AM J INTELLECT, V116, P331, DOI 10.1352/1944-7558-116.5.331
Centers for Disease Control and Prevention (CDC), 2012, MORBIDITY WEEKLY REP, V61
Charman T, 2003, J CHILD LANG, V30, P213, DOI 10.1017/S0305000902005482
Constantino JN, 2005, SOCIAL RESPONSIVENES
Dawson G, 2010, PEDIATRICS, V125, pE17, DOI 10.1542/peds.2009-0958
de Bildt A, 2011, J AUTISM DEV DISORD, V41, P311, DOI 10.1007/s10803-010-1057-0
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NR 47
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 MAR
PY 2014
VL 44
IS 3
BP 546
EP 563
DI 10.1007/s10803-013-1903-y
PG 18
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100006
PM 23907710
ER
PT J
AU Treffert, DA
AF Treffert, Darold A.
TI Savant Syndrome: Realities, Myths and Misconceptions
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Savant syndrome; Autism; Autism spectrum disorder; Hyperlexia; Einstein
syndrome
ID FRONTOTEMPORAL DEMENTIA; ABILITY; DISORDERS; TALENT
AB It was 126 years ago that Down first described savant syndrome as a specific condition and 70 years ago that Kanner first described Early Infantile Autism. While as many as one in ten autistic persons have savant abilities, such special skills occur in other CNS conditions as well such that approximately 50 % of cases of savant syndrome have autism as the underlying developmental disability and 50 % are associated with other disabilities. This paper sorts out realities from myths and misconceptions about both savant syndrome and autism spectrum disorders (ASD) that have developed through the years. The reality is that low IQ is not necessarily an accompaniment of savant syndrome; in some cases IQ can be superior. Also, savants can be creative, rather than just duplicative, and the skills increase over time on a continuum from duplication, to improvisation to creation, rather than diminishing or suddenly disappearing. Genius and prodigy exist separate from savant syndrome and not all such highly gifted persons have Asperger's Disorder. This paper also emphasizes the critical importance of separating 'autistic-like' symptoms from ASD especially in children when the savant ability presents as hyperlexia (children who read early) or as Einstein syndrome (children who speak late), or have impaired vision (Blindisms) because prognosis and outcome are very different when that careful distinction is made. In those cases the term 'outgrowing autism' might be mistakenly applied when in fact the child did not have ASD in the first place.
C1 Agnesian HealthCare, Fond du Lac, WI 54935 USA.
RP Treffert, DA (reprint author), Agnesian HealthCare, 430 East Div St, Fond du Lac, WI 54935 USA.
EM daroldt@charter.net
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NR 23
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 MAR
PY 2014
VL 44
IS 3
BP 564
EP 571
DI 10.1007/s10803-013-1906-8
PG 8
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100007
PM 23918440
ER
PT J
AU Sasson, NJ
Touchstone, EW
AF Sasson, Noah J.
Touchstone, Emily W.
TI Visual Attention to Competing Social and Object Images by Preschool
Children with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Social attention; Eye-tracking; Face processing; Circumscribed
interests; Restricted interests
ID HIGH-FUNCTIONING AUTISM; YOUNG-CHILDREN; CIRCUMSCRIBED INTERESTS;
REPETITIVE BEHAVIORS; TYPICAL DEVELOPMENT; RECOGNITION; AGE; LIFE; FACE;
PATTERNS
AB Eye tracking studies of young children with autism spectrum disorder (ASD) report a reduction in social attention and an increase in visual attention to non-social stimuli, including objects related to circumscribed interests (CI) (e.g., trains). In the current study, fifteen preschoolers with ASD and 15 typically developing controls matched on gender and age (range 24-62 months) were eye tracked while viewing a paired preference task of face and object stimuli. While co-varying verbal and nonverbal developmental quotients, preschoolers with ASD were similar to controls in their visual attention to faces presented with objects unrelated to CI, but attended significantly less than controls to faces presented with CI-related objects. This was consistent across three metrics: preference, prioritization and duration. Social attention in preschoolers with ASD therefore appears modulated by salience of competing non-social stimuli, which may affect the development of both social and non-social characteristics of the disorder.
C1 [Sasson, Noah J.; Touchstone, Emily W.] Univ Texas Dallas, Sch Behav & Brain Sci GR41, Richardson, TX 75080 USA.
RP Sasson, NJ (reprint author), Univ Texas Dallas, Sch Behav & Brain Sci GR41, Richardson, TX 75080 USA.
EM nsasson@utdallas.edu
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NR 54
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 MAR
PY 2014
VL 44
IS 3
BP 584
EP 592
DI 10.1007/s10803-013-1910-z
PG 9
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100009
PM 23918441
ER
PT J
AU Khor, AS
Melvin, GA
Reid, SC
Gray, KM
AF Khor, Angela S.
Melvin, Glenn A.
Reid, Sophie C.
Gray, Kylie M.
TI Coping, Daily Hassles and Behavior and Emotional Problems in Adolescents
with High-Functioning Autism/Asperger's Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Coping; Daily hassles; Psychopathology; Autism; Asperger's Disorder
ID AUTISM SPECTRUM DISORDERS; RANDOMIZED CONTROLLED-TRIAL; SOCIAL
COMMUNICATION QUESTIONNAIRE; PERVASIVE DEVELOPMENTAL DISORDERS;
ECOLOGICAL MOMENTARY ASSESSMENT; ASPERGERS-SYNDROME; DIFFICULTIES
QUESTIONNAIRE; PSYCHOMETRIC PROPERTIES; MENTAL-HEALTH; CHILDREN
AB Although daily hassles and coping are associated with behavior and emotional problems in non-clinical populations, few studies have investigated these relationships in individuals with high-functioning autism/Asperger's Disorder (HFASD). This study examined the relationships between daily hassles, coping and behavior and emotional problems in adolescents with HFASD. Thirty-one adolescents with HFASD completed questionnaires assessing their coping and behavior and emotional problems, and completed an Ecological Momentary Assessment run via a mobile phone application on their coping and daily hassles. Parents completed questionnaires of the adolescents' daily hassles, coping, and behavior and emotional problems. The disengagement coping style was associated with significantly higher levels of behavior and emotional problems regardless of respondent or methodology, suggesting it may be a valuable target for intervention.
C1 [Khor, Angela S.; Melvin, Glenn A.; Gray, Kylie M.] Monash Univ, Sch Psychol Psychiat, Monash Med Ctr, Ctr Dev Psychiat & Psychol, Clayton, Vic 3168, Australia.
[Reid, Sophie C.] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.
RP Gray, KM (reprint author), Monash Univ, Sch Psychol Psychiat, Monash Med Ctr, Ctr Dev Psychiat & Psychol, 246 Clayton Rd, Clayton, Vic 3168, Australia.
EM angela.khor@gmail.com; Glenn.melvin@monash.edu; Sophie.reid@mcri.edu.au;
Kylie.gray@monash.edu
RI Gray, Kylie/H-3345-2014
OI Gray, Kylie/0000-0001-6518-4240
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WING L, 1981, PSYCHOL MED, V11, P115
NR 75
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 MAR
PY 2014
VL 44
IS 3
BP 593
EP 608
DI 10.1007/s10803-013-1912-x
PG 16
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100010
PM 23933998
ER
PT J
AU Grodberg, D
Weinger, PM
Halpern, D
Parides, M
Kolevzon, A
Buxbaum, JD
AF Grodberg, David
Weinger, Paige M.
Halpern, Danielle
Parides, Michael
Kolevzon, Alexander
Buxbaum, Joseph D.
TI The Autism Mental Status Exam: Sensitivity and Specificity Using DSM-5
Criteria for Autism Spectrum Disorder in Verbally Fluent Adults
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism mental status exam; Mental status exam; Autism spectrum disorder;
DSM-5; ADOS; Autism diagnostic assessment
AB The phenotypic heterogeneity of adults suspected of autism spectrum disorder (ASD) requires a standardized diagnostic approach that is feasible in all clinical settings. The autism mental status exam (AMSE) is an eight-item observational assessment that structures the observation and documentation of social, communicative and behavioral signs and symptoms of ASD. Previous findings indicate high classification accuracy when compared to the autism diagnostic observation schedule in a non-stratified population of high-risk patients suspected of having ASD. This protocol investigates the sensitivity and specificity of AMSE scores using DSM-5 criteria for ASD in a sample of high-risk verbally fluent adults. Findings indicate an optimized sensitivity of 0.91 and a specificity of 0.93 for this group. Because of its high clinical utility, the AMSE holds promise as a diagnostic assessment tool that can support one's clinical diagnosis of ASD in high-risk adults.
C1 [Grodberg, David; Halpern, Danielle; Kolevzon, Alexander] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY USA.
[Weinger, Paige M.] Univ Miami, Miller Sch Med, Mailman Ctr Child Dev, Dept Pediat, Miami, FL 33136 USA.
[Parides, Michael] Icahn Sch Med Mt Sinai, Mt Sinai Ctr Biostat, Dept Hlth Evidence & Policy, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat Genet & Genom Sci, New York, NY USA.
[Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Neurosci, New York, NY USA.
RP Grodberg, D (reprint author), Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, One Gustave Levy Pl,Box 1230, New York, NY USA.
EM david.grodberg@mssm.edu; Paige.weinger@gmail.com;
Danielle.halpern@mssm.edu; Michael.parides@mssm.edu;
Alexander.kolevzon@mssm.edu; Joseph.buxbaum@mssm.edu
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Bastiaansen JA, 2011, J AUTISM DEV DISORD, V41, P1256, DOI 10.1007/s10803-010-1157-x
Brugha TS, 2011, ARCH GEN PSYCHIAT, V68, P459, DOI 10.1001/archgenpsychiatry.2011.38
Constantino JN, 2005, SOCIAL RESPONSIVENES
Grodberg D, 2012, J AUTISM DEV DISORD, V42, P455, DOI 10.1007/s10803-011-1255-4
Johnson SA, 2009, J AUTISM DEV DISORD, V39, P1706, DOI 10.1007/s10803-009-0809-1
Lord C., 1999, AUTISM DIAGNOSTIC OB
Risi S, 2006, J AM ACAD CHILD PSY, V45, P1094, DOI 10.1097/01.chi.0000227880.42780.0e
Ritvo RA, 2011, J AUTISM DEV DISORD, V41, P1076, DOI 10.1007/s10803-010-1133-5
Rutter M., 2003, AUTISM DIAGNOSTIC IN
Rutter M., 2003, SOCIAL COMMUNICATION
NR 11
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 MAR
PY 2014
VL 44
IS 3
BP 609
EP 614
DI 10.1007/s10803-013-1917-5
PG 6
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100011
PM 23989909
ER
PT J
AU D'Elia, L
Valeri, G
Sonnino, F
Fontana, I
Mammone, A
Vicari, S
AF D'Elia, Lidia
Valeri, Giovanni
Sonnino, Fabiana
Fontana, Ilaria
Mammone, Alessia
Vicari, Stefano
TI A Longitudinal Study of the Teacch Program in Different Settings: The
Potential Benefits of Low Intensity Intervention in Preschool Children
with Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; TEACCH; Preschool children; Treatment
intensity
ID YOUNG-CHILDREN; PARENTING STRESS
AB We conducted a longitudinal study of 30 preschool children with autism spectrum disorders (ASDs) to evaluate the potential benefits of the Treatment and Education of Autistic and related Communication Handicapped Children (TEACCH). Fifteen children following a low intensity TEACCH program were assessed four times for autism severity, adaptive functioning, language skills, maladaptive behaviors and parental stress and compared with a control group of 15 children following a non-specific approach. Findings suggest that a low intensity home and school TEACCH program may provide benefits for children with ASD by reducing autistic symptoms and maladaptive behaviors. Furthermore, a decrease in parental stress indicates that parents' involvement in the rehabilitation program is a crucial factor and contributes greatly to treatment efficacy.
C1 [D'Elia, Lidia; Valeri, Giovanni; Vicari, Stefano] Childrens Hosp Bambino Gesu, Dept Neurosci, I-00165 Rome, Italy.
[Sonnino, Fabiana; Fontana, Ilaria] Autism Treatment Ctr Tutti Giu Terra ONLUS, I-00100 Rome, Italy.
[Mammone, Alessia] Univ Roma Tor Vergata, CIBB Interdisciplinary Ctr Biostat & Bioinformat, I-00133 Rome, Italy.
RP D'Elia, L (reprint author), Childrens Hosp Bambino Gesu, Dept Neurosci, Piazza St Onofrio 4, I-00165 Rome, Italy.
EM lidia.delia@opbg.net
CR Abidin R. R., 1999, PARENTING STRESS IND
Achenbach T., 1991, CHILD BEHAV CHECKLIS
Aldred C, 2004, J CHILD PSYCHOL PSYC, V45, P1420, DOI 10.1111/j1469-7610.2004.00338.x
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Antshel KM, 2011, J DEV BEHAV PEDIATR, V32, P439, DOI 10.1097/DBP.0b013e318222355d
Caselli C., 2007, PAROLE FRASI NEL PRI
Estes A, 2009, AUTISM, V13, P375, DOI 10.1177/1362361309105658
Fenson L, 2000, APPL PSYCHOLINGUIST, V21, P95
Francke J., 2003, J RES CHILDHOOD ED, V18, P125
Glen I., 2010, LIFE SPAN DISABIL, V13, P129
Hartley SL, 2008, J INTELL DISABIL RES, V52, P819, DOI 10.1111/j.1365-2788.2008.01065.x
Kamp-Becker I., 2010, PSYCHOSOCIAL MED, P7
Kasari C, 2002, J AUTISM DEV DISORD, V32, P447, DOI 10.1023/A:1020546006971
Larsen R., 2011, SHOESBOX TASKS ACTIV
Lord C., 1999, AUTISM DIAGNOSTIC OB
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McConachie H., 2003, COCHRANE LIB
Mesibov G. B., 2006, TEACCH APPROACH AUTI
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National Research Council, 2001, ED CHILDR AUT
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Roberts J. M. A., 2006, REV RES IDENTIFY MOS
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Sabin E., 2006, AUTISM ACCEPTANCE BO
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Schopler E., 1994, CHILD ADOL PSYCH CL, V3, P91
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Sparrow S., 1994, VINELAND ADAPTIVE BE
Tsang SKM, 2007, J AUTISM DEV DISORD, V37, P390, DOI 10.1007/s10803-006-0199-6
Volkmar F. R., 2009, PRACTICAL GUIDE AUTI, P119
Warren Z., 2011, AHRQ PUBLICATION, V11-EHC029-EF
Welterlin A, 2012, J AUTISM DEV DISORD, V42, P1827, DOI 10.1007/s10803-011-1419-2
Wolery M, 2002, J AUTISM DEV DISORD, V32, P463, DOI 10.1023/A:1020598023809
NR 43
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 MAR
PY 2014
VL 44
IS 3
BP 615
EP 626
DI 10.1007/s10803-013-1911-y
PG 12
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100012
PM 23949000
ER
PT J
AU Sipes, M
Matson, JL
AF Sipes, Megan
Matson, Johnny L.
TI Factor Structure for Autism Spectrum Disorders with Toddlers Using
DSM-IV and DSM-5 Criteria
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; DSM-5; BISCUIT; CFA
ID PERVASIVE DEVELOPMENTAL DISORDERS; CONFIRMATORY FACTOR-ANALYSIS;
DIAGNOSTIC INTERVIEW; JOINT ATTENTION; INFANT SCREEN; FIT INDEXES;
SAMPLE-SIZE; CHILDREN; COMMUNICATION; PLAY
AB With the publication of the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition, autism spectrum disorders are defined by two symptom clusters (social communication and restricted/repetitive behaviors) instead of the current three clusters. The current study examined the structure of the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT). First, an exploratory factor analysis was replicated whose results were largely comparable to the previous findings. Then, confirmatory factor analyses compared a two and three factor structure for the BISCUIT. Measures of model fit supported both the two and three factor models relatively well. When directly compared, the three factor model was found to be preferred over the two factor model. Implications are discussed.
C1 [Sipes, Megan; Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Sipes, M (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA.
EM msipes1@gmail.com
CR American Psychiatric Association, 2011, DSM 5
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 59
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 MAR
PY 2014
VL 44
IS 3
BP 636
EP 647
DI 10.1007/s10803-013-1919-3
PG 12
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100014
PM 23979069
ER
PT J
AU Tyson, K
Kelley, E
Fein, D
Orinstein, A
Troyb, E
Barton, M
Eigsti, IM
Naigles, L
Schultz, RT
Stevens, M
Helt, M
Rosenthal, M
AF Tyson, Katherine
Kelley, Elizabeth
Fein, Deborah
Orinstein, Alyssa
Troyb, Eva
Barton, Marianne
Eigsti, Inge-Marie
Naigles, Letitia
Schultz, Robert T.
Stevens, Michael
Helt, Molly
Rosenthal, Michael
TI Language and Verbal Memory in Individuals with a History of Autism
Spectrum Disorders Who Have Achieved Optimal Outcomes
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Optimal outcome; Language; Recovery; Autism
ID INTENSIVE BEHAVIORAL TREATMENT; WORKING-MEMORY; NONWORD REPETITION;
CHILDREN; IMPAIRMENT; COMMUNICATION; DIFFICULTIES; ACQUISITION;
PERFORMANCE; PREDICTORS
AB Some individuals who lose their autism spectrum disorder diagnosis may continue to display subtle weaknesses in language. We examined language and verbal memory in 44 individuals with high-functioning autism (HFA), 34 individuals with "optimal outcomes" (OO) and 34 individuals with typical development (TD). The OO group scored in the average range or above on all measures and showed few differences from the TD group. The HFA group performed within the average range but showed significantly lower mean performance than the other groups on multiple language measures, even when controlling for verbal IQ. Results also indicate that OO individuals show strong language abilities in all areas tested, but that their language may show greater reliance on verbal memory.
C1 [Tyson, Katherine; Fein, Deborah; Orinstein, Alyssa; Troyb, Eva; Barton, Marianne; Eigsti, Inge-Marie; Naigles, Letitia; Helt, Molly] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
[Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada.
[Fein, Deborah] Univ Connecticut, Dept Pediat, Farmington, CT USA.
[Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA 19104 USA.
[Stevens, Michael] Hartford Hosp, Inst Living, Hartford, CT 06115 USA.
[Rosenthal, Michael] Child Mind Inst, New York, NY USA.
RP Tyson, K (reprint author), Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
EM katherine.tyson@uconn.edu
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NR 55
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 MAR
PY 2014
VL 44
IS 3
BP 648
EP 663
DI 10.1007/s10803-013-1921-9
PG 16
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100015
PM 23982487
ER
PT J
AU Amso, D
Haas, S
Tenenbaum, E
Markant, J
Sheinkopf, S
AF Amso, Dima
Haas, Sara
Tenenbaum, Elena
Markant, Julie
Sheinkopf, Stephen J.
TI Bottom-Up Attention Orienting in Young Children with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Bottom-up attention; Saliency; Visual attention; Autism; Eye tracking;
Social attention
ID DIAGNOSTIC OBSERVATION SCHEDULE; SELECTIVE VISUAL-ATTENTION; NEURAL
CIRCUITRY; JOINT ATTENTION; PERCEPTION; SEARCH; SPECTRUM; PHENOTYPE;
FIXATION; LANGUAGE
AB We examined the impact of simultaneous bottom-up visual influences and meaningful social stimuli on attention orienting in young children with autism spectrum disorders (ASDs). Relative to typically-developing age and sex matched participants, children with ASDs were more influenced by bottom-up visual scene information regardless of whether social stimuli and bottom-up scene properties were congruent or competing. This initial reliance on bottom-up strategies correlated with severity of social impairment as well as receptive language impairments. These data provide support for the idea that there is enhanced reliance on bottom-up attention strategies in ASDs, and that this may have a negative impact on social and language development.
C1 [Amso, Dima; Haas, Sara; Tenenbaum, Elena; Markant, Julie] Brown Univ, Dept Cognit Linguist & Psychol Sci, Providence, RI 02912 USA.
[Tenenbaum, Elena; Sheinkopf, Stephen J.] Brown Univ, Warren Alpert Med Sch, Ctr Study Children Risk, Providence, RI 02912 USA.
RP Amso, D (reprint author), Brown Univ, Dept Cognit Linguist & Psychol Sci, 190 Thayer St,Box 1821, Providence, RI 02912 USA.
EM dima_amso@brown.edu
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NR 39
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 MAR
PY 2014
VL 44
IS 3
BP 664
EP 673
DI 10.1007/s10803-013-1925-5
PG 10
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100016
PM 23996226
ER
PT J
AU Hanson, LK
Atance, CM
AF Hanson, Laura K.
Atance, Cristina M.
TI Brief Report: Episodic Foresight in Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Episodic foresight; Future thinking; Theory of mind;
Executive function
ID MENTAL TIME-TRAVEL; EXECUTIVE FUNCTION; INDIVIDUAL-DIFFERENCES;
INHIBITORY CONTROL; FUTURE THINKING; CHILDREN; MIND; MEMORY; SELF;
ABILITY
AB Episodic foresight (EpF) or, the ability to imagine the future and use such imagination to guide our actions, is an important aspect of cognition that has not yet been explored in children with autism spectrum disorder (ASD). This is despite its proposed links with theory of mind (ToM) and executive function (EF), two areas found to be impaired in ASD. Twenty-five children with ASD (M = 5 years, 10 months; 22 male) and 25 mental-age-matched typically developing children (M = 4 years, 10 months; 22 male) completed a series of EpF, ToM, and EF tasks. Significant group differences were detected on several EpF tasks suggesting that children with ASD show impairments in thinking about their future selves.
C1 [Hanson, Laura K.; Atance, Cristina M.] Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
RP Hanson, LK (reprint author), Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
EM ljack033@uottawa.ca
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NR 44
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAR
PY 2014
VL 44
IS 3
BP 674
EP 684
DI 10.1007/s10803-013-1896-6
PG 11
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100017
PM 23893099
ER
PT J
AU Funahashi, A
Gruebler, A
Aoki, T
Kadone, H
Suzuki, K
AF Funahashi, Atsushi
Gruebler, Anna
Aoki, Takeshi
Kadone, Hideki
Suzuki, Kenji
TI Brief Report: The Smiles of a Child with Autism Spectrum Disorder During
an Animal-assisted Activity May Facilitate Social Positive
Behaviors-Quantitative Analysis with Smile-detecting Interface
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Animal-assisted activity; Smile-detecting
interface
ID THERAPY; DEMENTIA; DOGS
AB We quantitatively measured the smiles of a child with autism spectrum disorder (ASD-C) using a wearable interface device during animal-assisted activities (AAA) for 7 months, and compared the results with a control of the same age. The participant was a 10-year-old boy with ASD, and a normal healthy boy of the same age was the control. They voluntarily participated in this study. Neither child had difficulty putting on the wearable device. They kept putting on the device comfortably through the entire experiment (duration of a session was about 30-40 min). This study was approved by the Ethical Committee based on the rules established by the Institute for Developmental Research, Aichi Human Service Center. The behavior of the participants during AAA was video-recorded and coded by the medical examiner (ME). In both groups, the smiles recognized by the ME corresponded with the computer-detected smiles. In both groups, positive social behaviors increased when the smiles increased. Also, negative social behaviors decreased when the smiles increased in the (ASD-C). It is suggested that by leading the (ASD-C) into a social environment that may cause smiling, the child's social positive behaviors may be facilitated and his social negative behaviors may be decreased.
C1 [Funahashi, Atsushi] Aichi Human Serv Ctr, Inst Dev Res, Dept Educ & Social Serv, Kasugai, Aichi 4800392, Japan.
[Gruebler, Anna] Univ Tsukuba, Grad Sch Syst & Informat Engn, Tsukuba, Ibaraki 3058573, Japan.
[Aoki, Takeshi] Chubu Anim Assisted Therapy Assoc, Chikusa Ku, Nagoya, Aichi 4640007, Japan.
[Kadone, Hideki; Suzuki, Kenji] Univ Tsukuba, Ctr Cybern Res, Tsukuba, Ibaraki 3058573, Japan.
[Suzuki, Kenji] Japan Sci & Technol Agcy, Kawaguchi, Saitama, Japan.
RP Funahashi, A (reprint author), Aichi Human Serv Ctr, Inst Dev Res, Dept Educ & Social Serv, 713-8 Kamiya Cho, Kasugai, Aichi 4800392, Japan.
EM atsushi@inst-hsc.jp
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NR 22
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAR
PY 2014
VL 44
IS 3
BP 685
EP 693
DI 10.1007/s10803-013-1898-4
PG 9
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100018
PM 23893100
ER
PT J
AU Swanson, MR
Siller, M
AF Swanson, Meghan R.
Siller, Michael
TI Brief Report: Broad Autism Phenotype in Adults is Associated with
Performance on an Eye-Tracking Measure of Joint Attention
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Broad autism phenotype; Autism spectrum disorder; Response to joint
attention; Gaze following; Eye-tracking; Endophenotype
ID NEURAL RESPONSE; SPECTRUM TRAITS; GAZE; CHILDREN; DEFICITS; BRAIN;
MOVEMENTS; PREDICT; RISK
AB The current study takes advantage of modern eye-tracking technology and evaluates how individuals allocate their attention when viewing social videos that display an adult model who is gazing at a series of targets that appear and disappear in the four corners of the screen (congruent condition), or gazing elsewhere (incongruent condition). Data demonstrated the feasibility of administrating this experimental paradigm to a diverse sample of healthy adult college students (N = 44). Results revealed that individual differences in gaze allocation were significantly related to a self-report measure evaluating features of the broad autism phenotype, suggesting that individual variation in the broad autism phenotype is related to individual differences in gaze allocation.
C1 [Swanson, Meghan R.; Siller, Michael] CUNY Hunter Coll, Dept Psychol, New York, NY 10065 USA.
RP Swanson, MR (reprint author), Univ N Carolina, Carolina Inst Dev Disabil, CB 3367, Chapel Hill, NC 27599 USA.
EM meghan.swanson@cidd.unc.edu
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NR 38
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 MAR
PY 2014
VL 44
IS 3
BP 694
EP 702
DI 10.1007/s10803-013-1901-0
PG 9
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100019
PM 23921972
ER
PT J
AU Suter, B
Treadwell-Deering, D
Zoghbi, HY
Glaze, DG
Neul, JL
AF Suter, Bernhard
Treadwell-Deering, Diane
Zoghbi, Huda Y.
Glaze, Daniel G.
Neul, Jeffrey L.
TI Brief Report: MECP2 Mutations in People Without Rett Syndrome
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Rett syndrome; Autism; Neurodevelopmental disorders; MECP2; Epigenetics;
Neurogenetics
ID X-CHROMOSOME INACTIVATION; DIFFERENTIAL-DIAGNOSIS; MENTAL-RETARDATION;
FEMALES; AUTISM; GENE; PHENOTYPE; SPECTRUM; SEQUENCE; PATTERNS
AB Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient's symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria.
C1 [Suter, Bernhard; Zoghbi, Huda Y.; Glaze, Daniel G.; Neul, Jeffrey L.] Baylor Coll Med, Dept Pediat, Sect Child Neurol & Dev Neurosci, Houston, TX 77030 USA.
[Treadwell-Deering, Diane] Baylor Coll Med, Menninger Dept Psychiat & Behav Sci, Houston, TX 77030 USA.
[Treadwell-Deering, Diane] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.
[Treadwell-Deering, Diane] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Glaze, Daniel G.; Neul, Jeffrey L.] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA.
[Zoghbi, Huda Y.] Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Translat Biol, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Baylor Coll Med, Program Mol Med, Houston, TX 77030 USA.
[Zoghbi, Huda Y.; Neul, Jeffrey L.] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA.
RP Neul, JL (reprint author), Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, 1250 Moursund St,Suite 1250-18, Houston, TX 77030 USA.
EM jneul@bcm.edu
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NR 27
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 MAR
PY 2014
VL 44
IS 3
BP 703
EP 711
DI 10.1007/s10803-013-1902-z
PG 9
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100020
PM 23921973
ER
PT J
AU Hoffman, K
Vieira, VM
Daniels, JL
AF Hoffman, Kate
Vieira, Veronica M.
Daniels, Julie L.
TI Brief Report: Diminishing Geographic Variability in Autism Spectrum
Disorders Over Time?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders (ASD); Spatial analyses; Geographic
variability; Generalized additive models; Prevalence
ID RISK-FACTORS; PREVALENCE; AGE; EPIDEMIOLOGY
AB We investigated differences in the geographic distribution of autism spectrum disorders (ASD) over time in central North Carolina with data from the Autism and Developmental Disabilities Monitoring Network. Using generalized additive models and geographic information systems we produced maps of ASD risk in 2002-2004 and 2006-2008. Overall the risk of ASD increased 52.9 % from 2002-2004 to 2006-2008. However, the magnitude of change in risk was not uniform across the study area; while some areas experienced dramatic increases in ASD risk (> 400 %), others experienced slight decreases. Generally, areas with the lowest risk in 2002-2004 experienced the greatest increases over time. Education and outreach efforts in North Carolina expanded during this period, possibly contributing to the observed leveling of risk over time.
C1 [Hoffman, Kate; Daniels, Julie L.] Univ N Carolina, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27599 USA.
[Vieira, Veronica M.] Boston Univ, Sch Publ Hlth, Boston, MA 02118 USA.
[Vieira, Veronica M.] Univ Calif Irvine, Sch Ecol, Irvine, CA 92617 USA.
RP Daniels, JL (reprint author), Univ N Carolina, Gillings Sch Global Publ Hlth, CB 7435, Chapel Hill, NC 27599 USA.
EM katehoff@email.unc.edu; juliedaniels@unc.edu
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NR 25
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 MAR
PY 2014
VL 44
IS 3
BP 712
EP 718
DI 10.1007/s10803-013-1907-7
PG 7
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100021
PM 23959585
ER
PT J
AU Pugliese, CE
White, SW
AF Pugliese, Cara E.
White, Susan W.
TI Brief Report: Problem Solving Therapy in College Students with Autism
Spectrum Disorders: Feasibility and Preliminary Efficacy
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; College; Intervention; Problem solving
ID HIGH-FUNCTIONING AUTISM; COGNITIVE-BEHAVIORAL INTERVENTION;
ASPERGERS-SYNDROME; CONTROLLED-TRIAL; CHILDREN; ANXIETY; HOMEWORK;
DEFICITS
AB Students with autism spectrum disorder (ASD), though academically capable, can have difficulty succeeding in college. Evidence-based intervention to promote effective problem solving may improve quality of life, as well as success and satisfaction in college. This study adapted and piloted a group-based cognitive-behavioral intervention program, Problem Solving Skills: 101 (PSS: 101), to teach effective problem solving ability in college students with ASD. Therapists met all treatment integrity objectives across sessions, four of the five participants completed at least eight of the nine sessions, and between-session assignments were generally completed (83 % completion rate), indicating a high level of treatment adherence. Two participants demonstrated reliable improvement post-intervention in problem solving ability and subjective distress. Further evaluation to assess efficacy of the intervention is warranted.
C1 [Pugliese, Cara E.; White, Susan W.] Virginia Polytechn State Inst & Univ, Dept Psychol, Blacksburg, VA 24060 USA.
RP Pugliese, CE (reprint author), Virginia Polytechn State Inst & Univ, Dept Psychol, 109 Williams Hall, Blacksburg, VA 24060 USA.
EM CPugliese@vt.edu
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D'Zurilla T. J., 2007, PROBLEM SOLVING THER
D'Zurilla T. J., 2002, MANUAL SOCIAL PROBLE
Dunlop A., 2008, AUTISM INTEGRATED VI
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United States Centers for Disease Control and Prevention, 2012, SURVEILLANCE SUMMARI, V61
U.S. Government Accountability Office, 2009, HIGH ED DIS ED NEEDS
White SW, 2011, AUTISM, V15, P683, DOI 10.1177/1362361310393363
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Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x
NR 46
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 MAR
PY 2014
VL 44
IS 3
BP 719
EP 729
DI 10.1007/s10803-013-1914-8
PG 11
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100022
PM 23963592
ER
PT J
AU Neuhaus, E
Bernier, R
Beauchaine, TP
AF Neuhaus, Emily
Bernier, Raphael
Beauchaine, Theodore P.
TI Brief Report: Social Skills, Internalizing and Externalizing Symptoms,
and Respiratory Sinus Arrhythmia in Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Respiratory sinus arrhythmia; Heart rate variability; Emotion
regulation; Internalizing; Externalizing; Social skills
ID NERVOUS-SYSTEM; SPECTRUM DISORDERS; CONDUCT DISORDER; POLYVAGAL THEORY;
VAGAL TONE; CHILDREN; PSYCHOPATHOLOGY; BEHAVIOR; PRESCHOOLERS;
PERSPECTIVE
AB Theoretical and empirical models describe respiratory sinus arrhythmia (RSA) as a peripheral biomarker of emotion regulation and social competence. Recent findings also link RSA to individual differences in social functioning within autism spectrum disorder (ASD). However, associations between RSA and symptoms of internalizing/externalizing psychopathology in ASD have not been explored. We assessed RSA, social functioning, and internalizing/externalizing symptoms among boys with and without ASD. Compared with controls, participants with ASD evidenced reduced parasympathetic cardiac control, which correlated with social behavior. Symptoms were associated with deficiencies in RSA, over-and-above the contribution of social functioning. These findings yield a more nuanced understanding of parasympathetic function in ASD, and suggest a role for integrative intervention strategies that address socioemotional difficulties.
C1 [Neuhaus, Emily; Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Beauchaine, Theodore P.] Ohio State Univ, Dept Psychol, Columbus, OH 43210 USA.
RP Neuhaus, E (reprint author), Univ Washington, Dept Psychiat & Behav Sci, Box 357920, Seattle, WA 98195 USA.
EM eneuhaus@u.washington.edu
CR Achenbach TM, 1991, MANUAL CHILD BEHAV C
Bal E, 2010, J AUTISM DEV DISORD, V40, P358, DOI 10.1007/s10803-009-0884-3
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Beauchaine TP, 2001, J ABNORM PSYCHOL, V110, P610, DOI 10.1037/0021-843X.110.4.610
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Wood JJ, 2009, J AUTISM DEV DISORD, V39, P1608, DOI 10.1007/s10803-009-0791-7
NR 40
TC 5
Z9 5
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD MAR
PY 2014
VL 44
IS 3
BP 730
EP 737
DI 10.1007/s10803-013-1923-7
PG 8
WC Psychology, Developmental
SC Psychology
GA AA3AK
UT WOS:000330965100023
PM 23982488
ER
PT J
AU Samadi, SA
McConkey, R
AF Samadi, S. A.
McConkey, R.
TI The impact on Iranian mothers and fathers who have children with an
autism spectrum disorder
SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
LA English
DT Article
DE autism spectrum disorder; health; Iran; parents; stress
ID DEVELOPMENTAL-DISABILITIES; BEHAVIOR PROBLEMS; INTELLECTUAL
DISABILITIES; PARENTING STRESS; SOCIAL SUPPORT; YOUNG-CHILDREN;
MENTAL-HEALTH; DOWN-SYNDROME; FAMILIES; PREDICTORS
AB BackgroundTo date, most research with families who have a child with autism spectrum disorder (ASD) has been undertaken in English-speaking countries. Increased levels of stress allied with poorer health have been commonly reported for mothers, with less attention paid to fathers. This study aimed to document the personal impact on Iranian mothers and fathers and identify the correlates of increased stress and poorer emotional well-being.
MethodIn all, 103 parents (58 mothers and 45 fathers) from 74 families who had a child with ASD volunteered to take part in the study. Each participant completed through interview, standardised rating scales of parenting stress, emotional well-being and family functioning as well as rating their child's autistic symptoms, including stereotyped behaviours.
ResultsMothers had significantly higher scores than fathers on measures of stress and emotional well-being. Although these variables were highly correlated, binary logistic regression identified that the poorer health was also associated with lower educational levels of the parents, more behavioural problems with the child and fewer autistic symptoms overall. A similar regression analysis of stress scores identified no gender differences but found that lower stress was associated with mothers and fathers who were joint caregivers and when the family lived with relatives.
ConclusionsIranian parents experience broadly similar responses to parents in other countries, which suggests that the impact of ASD outweighs any cultural differences that might otherwise be present in parental responses to caring for children. In common with families internationally, these parents are likely to benefit from opportunities to become better informed about ASD and the management of their child at home allied with increased support from families and friends.
C1 [Samadi, S. A.; McConkey, R.] Univ Ulster, Inst Nursing Res, Newtownabbey, North Ireland.
RP McConkey, R (reprint author), Univ Ulster, Inst Nursing Res, Newtownabbey, North Ireland.
EM r.mcconkey@ulster.ac.uk
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NR 48
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0964-2633
EI 1365-2788
J9 J INTELL DISABIL RES
JI J. Intell. Disabil. Res.
PD MAR
PY 2014
VL 58
IS 3
BP 243
EP 254
DI 10.1111/jir.12005
PG 12
WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry;
Rehabilitation
SC Education & Educational Research; Genetics & Heredity; Neurosciences &
Neurology; Psychiatry; Rehabilitation
GA AA1TI
UT WOS:000330878200004
PM 23279238
ER
PT J
AU Mulle, JG
Pulver, AE
McGrath, JA
Wolyniec, PS
Dodd, AF
Cutler, DJ
Sebat, J
Malhotra, D
Nestadt, G
Conrad, DF
Hurles, M
Barnes, CP
Ikeda, M
Iwata, N
Levinson, DF
Gejman, PV
Sanders, AR
Duan, J
Mitchell, AA
Peter, I
Sklar, P
O'Dushlaine, CT
Grozeva, D
O'Donovan, MC
Owen, MJ
Hultman, CM
Kahler, AK
Sullivan, PF
Kirov, G
Warren, ST
AF Mulle, Jennifer Gladys
Pulver, Ann E.
McGrath, John A.
Wolyniec, Paula S.
Dodd, Anne F.
Cutler, David J.
Sebat, Jonathan
Malhotra, Dheeraj
Nestadt, Gerald
Conrad, Donald F.
Hurles, Matthew
Barnes, Chris P.
Ikeda, Masashi
Iwata, Nakao
Levinson, Douglas F.
Gejman, Pablo V.
Sanders, Alan R.
Duan, Jubao
Mitchell, Adele A.
Peter, Inga
Sklar, Pamela
O'Dushlaine, Colm T.
Grozeva, Detelina
O'Donovan, Michael C.
Owen, Michael J.
Hultman, Christina M.
Kahler, Anna K.
Sullivan, Patrick F.
Kirov, George
Warren, Stephen T.
CA Mol Genetics Schizophrenia Consort
TI Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on
Chromosome 7q11.23 Is Associated with Schizophrenia
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Autism; 7q11.23 duplication syndrome; psychiatric genetics;
schizophrenia; schizophrenia genetics; Williams-Beuren syndrome
ID COPY-NUMBER VARIANTS; SUPRAVALVULAR AORTIC STENOSIS; CARDIO-FACIAL
SYNDROME; CANDIDATE GENES; HIGH-RISK; POPULATION; EPILEPSY; AUTISM;
MICRODELETIONS; REARRANGEMENTS
AB Background: Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome.
Methods: We assayed an Ashkenazi Jewish cohort of 554 SZ cases and 1014 controls for genome-wide CNV. An excess of large rare and de novo CNVs were observed, including a 1.4 Mb duplication on chromosome 7q11.23 identified in two unrelated patients. To test whether this 7q11.23 duplication is also associated with SZ, we obtained data for 14,387 SZ cases and 28,139 controls from seven additional studies with high-resolution genome-wide CNV detection. We performed a meta-analysis, correcting for study population of origin, to assess whether the duplication is associated with SZ.
Results: We found duplications at 7q11.23 in 11 of 14,387 SZ cases with only 1 in 28,139 control subjects (unadjusted odds ratio 21.52, 95% confidence interval: 3.13-922.6, p value 5.5 x 10(-5); adjusted odds ratio 10.8, 95% confidence interval: 1.46-79.62, p value.007). Of three SZ duplication carriers with detailed retrospective data, all showed social anxiety and language delay premorbid to SZ onset, consistent with both human studies and animal models of the 7q11.23 duplication.
Conclusions: We have identified a new CNV associated with SZ. Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ.
C1 [Mulle, Jennifer Gladys; Dodd, Anne F.] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30222 USA.
[Pulver, Ann E.; McGrath, John A.; Wolyniec, Paula S.; Nestadt, Gerald] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30222 USA.
[Mulle, Jennifer Gladys; McGrath, John A.; Wolyniec, Paula S.; Nestadt, Gerald] Johns Hopkins Sch Med, Dept Psychiat & Behav Sci, Baltimore, MD USA.
[Pulver, Ann E.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA.
[Sebat, Jonathan; Malhotra, Dheeraj] Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA.
[Sebat, Jonathan; Malhotra, Dheeraj] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA.
[Sebat, Jonathan] Univ Calif San Diego, Dept Cellular Mol & Mol Med, La Jolla, CA 92093 USA.
[Sebat, Jonathan] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA.
[Conrad, Donald F.; Hurles, Matthew] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England.
[Barnes, Chris P.] UCL, Dept Cell & Dev Biol, London, England.
[Ikeda, Masashi; Iwata, Nakao] Fujita Hlth Univ, Sch Med, Toyoake, Aichi, Japan.
[Levinson, Douglas F.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Gejman, Pablo V.; Sanders, Alan R.; Duan, Jubao] NorthShore Univ HealthSystem, Dept Psychiat & Behav Sci, Evanston, IL USA.
[Gejman, Pablo V.; Sanders, Alan R.; Duan, Jubao] Univ Chicago, Dept Psychiat & Behav Sci, Chicago, IL 60637 USA.
[Mitchell, Adele A.] Off Chief Med Examiner, Dept Forens Biol, New York, NY USA.
[Peter, Inga] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA.
[Sklar, Pamela] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Sklar, Pamela; O'Dushlaine, Colm T.] Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Sklar, Pamela] Mt Sinai Sch Med, Dept Psychiat, Div Psychiat Genom, New York, NY USA.
[Grozeva, Detelina; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George] Cardiff Univ, Dept Psychol Med, Cardiff CF10 3AX, S Glam, Wales.
[Hultman, Christina M.; Kahler, Anna K.] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Kahler, Anna K.; Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC USA.
[Kahler, Anna K.; Sullivan, Patrick F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Kahler, Anna K.] Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway.
[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 Mulle, JG (reprint author), Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, CNR 4053,1518 Clifton Rd, Atlanta, GA 30222 USA.
EM jmulle@emory.edu
RI Kahler, Anna/J-2874-2012; Mowry, Bryan /G-5046-2010
FU National Institutes of Health [MH080129, MH083722]; National Alliance
for Research on Schizophrenia and Depression Young Investigator Award;
Stanley Center for Psychiatric Research at the Broad Institute from a
Grant from Stanley Medical Research Institute; Karolinska Institutet,
Karolinska University Hospital; Swedish Research Council; Swedish County
Council; Sderstrm Knigska Foundation; National Institute of Mental
Health Schizophrenia Genetics Initiative [U01s: MH46276, MH46289,
MH46318, 2 R01s: MH67257, MH59588, MH59571, MH59565, MH59587, MH60870,
MH59566, MH59586, MH61675, MH60879]; [MH077139]
FX Funding for this study was provided by National Institutes of Health
Grants MH080129 and MH083722 to STW and a National Alliance for Research
on Schizophrenia and Depression Young Investigator Award to JGM. Support
was provided by MH077139 (PFS), the Stanley Center for Psychiatric
Research at the Broad Institute from a Grant from Stanley Medical
Research Institute, the Karolinska Institutet, Karolinska University
Hospital, the Swedish Research Council, ALF grant from Swedish County
Council, and Sderstrm Knigska Foundation. Funding support for the
companion studies, Genome-Wide Association Study of Schizophrenia
(Genetic Association Information Network [GAIN]) and Molecular Genetics
of Schizophrenia-nonGAIN Sample (MGS_ nonGAIN), was provided by Genomics
Research Branch at the National Institute of Mental Health and the
genotyping and analysis of samples was provided through GAIN and under
the Molecular Genetics of Schizophrenia (MGS) U01s: MH79469 and MH79470.
Assistance with data cleaning was provided by the National Center for
Biotechnology Information. The MGS datasets used for the analyses
described in this manuscript were obtained from the database of Genotype
and Phenotype (dbGaP) found at http://www.ncbi.nlm. nih. gov/gap through
dbGaP accession numbers phs000021. v2. p1 (GAIN) and phs000167. v1. p1
(nonGAIN). Samples and associated phenotype data for the MGS genome-wide
association study were collected under the following grants: National
Institute of Mental Health Schizophrenia Genetics Initiative U01s:
MH46276 (C. R. Cloninger), MH46289 (C. Kaufmann), and MH46318 (M. T.
Tsuang); and MGS Part 1 and MGS Part 2 R01s: MH67257 (N. G. Buccola),
MH59588 (B. J. Mowry), MH59571 (P. V. Gejman), MH59565 (R. Freedman),
MH59587 (F. Amin), MH60870 (W. F. Byerley), MH59566 (D. W. Black),
MH59586 (J. M. Silverman), MH61675 (D. F. Levinson), and MH60879 (C. R.
Cloninger). Further details of collection sites, individuals, and
institutions may be found in data supplement Table 1 of Sanders et al.
(40) and at the study dbGaP pages.
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NR 44
TC 9
Z9 9
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 MAR 1
PY 2014
VL 75
IS 5
BP 371
EP 377
DI 10.1016/j.biopsych.2013.05.040
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 304CQ
UT WOS:000330724100008
PM 23871472
ER
PT J
AU Kirov, G
Rees, E
Walters, JTR
Escott-Price, V
Georgieva, L
Richards, AL
Chambert, KD
Davies, G
Legge, SE
Moran, JL
McCarroll, SA
O'Donovan, MC
Owen, MJ
AF Kirov, George
Rees, Elliott
Walters, James T. R.
Escott-Price, Valentina
Georgieva, Lyudmila
Richards, Alexander L.
Chambert, Kimberly D.
Davies, Gerwyn
Legge, Sophie E.
Moran, Jennifer L.
McCarroll, Steven A.
O'Donovan, Michael C.
Owen, Michael J.
TI The Penetrance of Copy Number Variations for Schizophrenia and
Developmental Delay
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Autism spectrum disorder; developmental delay; CNV; penetrance;
schizophrenia; selection
ID RARE CHROMOSOMAL DELETIONS; MENTAL-RETARDATION; AUTISM-SPECTRUM;
INCREASE RISK; POPULATION; VARIANTS; DISORDERS; DUPLICATIONS;
PREVALENCE; CHILDREN
AB Background: Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been made.
Methods: We use data from the largest available studies on SCZ and DD/ASD/CM, including a new sample of 6882 cases and 6316 controls, to estimate the frequencies of 70 implicated CNVs in carriers with these disorders, healthy control subjects, and the general population. On the basis of these frequencies, we estimate their penetrance. We also estimate the strength of the selection pressure against CNVs and correlate this against their overall penetrance.
Results: The rates of nearly all CNVs are higher in DD/ASD/CM compared with SCZ. The penetrance of CNVs is at least several times higher for the development of a disorder from the group of DD/ASD/CM. The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100%.
Conclusions: CNVs associated with SCZ have high pathogenicity. The majority of the increased risk conferred by CNVs is toward the development of an earlier-onset disorder, such as DD/ASD/CM, rather than SCZ. The penetrance of CNVs correlates strongly with their selection coefficients. The improved estimates of penetrance will provide crucial information for genetic counselling.
C1 [Kirov, George; Rees, Elliott; Walters, James T. R.; Escott-Price, Valentina; Georgieva, Lyudmila; Richards, Alexander L.; Davies, Gerwyn; Legge, Sophie E.; O'Donovan, Michael C.; Owen, Michael J.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Gen, Cardiff CF24 4HQ, S Glam, Wales.
[Chambert, Kimberly D.; Moran, Jennifer L.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA.
RP Kirov, G (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiatr Genet & Gen, Hadyn Ellis Bldg, Cardiff CF24 4HQ, S Glam, Wales.
EM kirov@cardiff.ac.uk
FU Medical Research Council (MRC) [G0800509]; European Community's Seventh
Framework Programme [HEALTH-F2-2010-241909]; MRC PhD Studentship; Center
for Inherited Disease Research (CIDR) [1 X01 HG005274-01]; National
Institutes of Health to the Johns Hopkins University
[HHSN268200782096C]; Gene Environment Association Studies (GENEVA)
Coordinating Center [U01 HG004446]; Collaborative Genetic Study of
Nicotine Dependence [P01 CA089392]; University of Wisconsin
Transdisciplinary Tobacco Use Research Center [P50 DA019706, P50
CA084724]; National Institutes of Health, Bethesda, Maryland [R01
EY020483]; National Institutes of Health, Bethesda, Maryland; Wellcome
Trust Case Control Consortium 2 project [085475/B/08/Z, 085475/Z/08/Z];
Wellcome Trust [072894/Z/03/Z, 090532/Z/09/Z, 075491/ Z/04/B]; National
Institute of Mental Health [MH 41953, MH083094, R01 MH67257, R01
MH59588, R01 MH59571, R01 MH59565, R01 MH59587, R01 MH60870, R01
MH59566, R01 MH59586, R01 MH61675, R01 MH60879, R01 MH81800, U01
MH46276, U01 MH46289, U01 MH46318, U01 MH79469, U01 MH79470];
[G0801418]; [3P50CA093459]; [5P50CA097007]; [5R01ES011740];
[5R01CA133996]
FX The work at Cardiff University was funded by Medical Research Council
(MRC) Centre (G0800509) and Program Grants (G0801418) and the European
Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project
EU-GEI), and an MRC PhD Studentship to ER.The authors acknowledge the
contribution of data from outside sources: 1) Genetic Architecture of
Smoking and Smoking Cessation accessed through dbGAP: Study Accession:
phs000404. v1. p1. Funding support for genotyping, which was performed
at the Center for Inherited Disease Research (CIDR), was provided by 1
X01 HG005274-01. CIDR is fully funded through a federal contract from
the National Institutes of Health to the Johns Hopkins University,
Contract No. HHSN268200782096C. Assistance with genotype cleaning, as
well as with general study coordination, was provided by the Gene
Environment Association Studies (GENEVA) Coordinating Center (Grant No.
U01 HG004446). Funding support for collection of data sets and samples
was provided by the Collaborative Genetic Study of Nicotine Dependence
(Grant No. P01 CA089392) and the University of Wisconsin
Transdisciplinary Tobacco Use Research Center (Grant No. P50 DA019706,
P50 CA084724). 2) High Density SNP Association Analysis of Melanoma:
Case-Control and Outcomes Investigation, dbGaP Study Accession:
phs000187. v1. p1: Research support to collect data and develop an
application to support this project was provided by Grant Nos.
3P50CA093459, 5P50CA097007, 5R01ES011740, and 5R01CA133996. 3) Genetic
Epidemiology of Refractive Error in the KORA Study, dbGaP Study
Accession: phs000303. v1. p1. Principal investigators: Dwight
Stambolian, University of Pennsylvania, Philadelphia, Pennsylvania; H.
Erich Wichmann, Institut fur Humangenetik, Helmholtz-Zentrum Munchen,
Germany, National Eye Institute, National Institutes of Health,
Bethesda, Maryland. Funded by Grant No. R01 EY020483, National
Institutes of Health, Bethesda, Maryland. 4) Wellcome Trust Case Control
Consortium 2 study: Samples were downloaded from https://www. ebi. ac.
uk/ega/and include samples from the National Blood Donors Cohort
(EGAD00000000024) and samples from the 1958 British Birth Cohort
(EGAD00000000022). Funding for these projects was provided by the
Wellcome Trust Case Control Consortium 2 project (Grant Nos.
085475/B/08/Z and 085475/Z/08/Z), the Wellcome Trust (Grant Nos.
072894/Z/03/Z, 090532/Z/09/Z, and 075491/ Z/04/B), and the National
Institute of Mental Health (Grant Nos. MH 41953 and MH083094). 5)
Molecular Genetics of Schizophrenia study, funding support for the
Genome-Wide Association of Schizophrenia Study was provided by the
National Institute of Mental Health (Grant Nos. R01 MH67257, R01
MH59588, R01 MH59571, R01 MH59565, R01 MH59587, R01 MH60870, R01
MH59566, R01 MH59586, R01 MH61675, R01 MH60879, R01 MH81800, U01
MH46276, U01 MH46289 U01 MH46318, U01 MH79469, and U01 MH79470), and the
genotyping of samples was provided through the Genetic Association
Information Network (GAIN). The data sets used for the analyses
described in this article were obtained from the database of Genotypes
and Phenotypes (dbGaP) found at http://www.ncbi.nlm.nih.gov/gap through
dbGaP accession numbers phs000021. v3. p2 and phs000167. v1. p1. Samples
and associated phenotype data for the Genome-Wide Association of
Schizophrenia Study were provided by the Molecular Genetics of
Schizophrenia Collaboration (principal investigator: Pablo V. Gejman,
Evanston Northwestern Healthcare and Northwestern University, Evanston,
Illinois).
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NR 22
TC 21
Z9 21
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 MAR 1
PY 2014
VL 75
IS 5
BP 378
EP 385
DI 10.1016/j.biopsych.2013.07.022
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 304CQ
UT WOS:000330724100009
PM 23992924
ER
PT J
AU Hernan, AE
Alexander, A
Jenks, KR
Barry, J
Lenck-Santini, PP
Isaeva, E
Holmes, GL
Scott, RC
AF Hernan, Amanda E.
Alexander, Abigail
Jenks, Kyle R.
Barry, Jeremy
Lenck-Santini, Pierre-Pascal
Isaeva, Elena
Holmes, Gregory L.
Scott, Rod C.
TI Focal epileptiform activity in the prefrontal cortex is associated with
long-term attention and sociability deficits
SO NEUROBIOLOGY OF DISEASE
LA English
DT Article
DE Pediatric epilepsy; Interictal spikes; Attention; Social behavior;
Short-term plasticity; Prefrontal cortex
ID LATERAL GENICULATE-NUCLEUS; LANDAU-KLEFFNER SYNDROME;
REACTION-TIME-TASK; NEONATAL SEIZURES; SYNAPTIC PLASTICITY; FEBRILE
SEIZURES; OPEN-FIELD; RAT PUPS; EPILEPSY; CHILDHOOD
AB There is a well-described association between childhood epilepsy and pervasive cognitive and behavioral deficits. Often these children not only have ictal EEG events, but also frequent interictal abnormalities. The precise role of these interictal discharges in cognition remains unclear. In order to understand the relationship between frequent epileptiform discharges during neurodevelopment and cognition later in life, we developed a model of frequent focal interictal spikes (IIS). Postnatal day (p) 21 rats received injections of bicuculline methiodine into the prefrontal cortex (PFC). Injections were repeated in order to achieve 5 consecutive days of transient inhibitory/ excitatory imbalance resulting in IIS. Short-term plasticity (STP) and behavioral outcomes were studied in adulthood. IIS is associated with a significant increase in STP bilaterally in the PFC. IIS rats did not show working memory deficits, but rather showed marked inattentiveness without significant alterations in motivation, anxiety or hyperactivity. Rats also demonstrated significant deficits in social behavior. We conclude that GABAergic blockade during early-life and resultant focal IIS in the PFC disrupt neural networks and are associated with long-term consequences for behavior at a time when IIS are no longer present, and thus may have important implications for ADHD and autism spectrum disorder associated with childhood epilepsy. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Hernan, Amanda E.; Alexander, Abigail; Jenks, Kyle R.; Barry, Jeremy] Geisel Sch Med Dartmouth, Program Expt & Mol Med Dartmouth, Dept Neurol, Lebanon, NH 03756 USA.
[Isaeva, Elena] State Key Lab Mol & Cellular Biol, UA-01601 Kiev, Ukraine.
[Hernan, Amanda E.; Barry, Jeremy; Lenck-Santini, Pierre-Pascal; Isaeva, Elena; Holmes, Gregory L.; Scott, Rod C.] Univ Vermont, Coll Med, Dept Neurol Sci, Burlington, VT 05405 USA.
[Scott, Rod C.] UCL, Inst Child Hlth, London WC1N 1EH, England.
RP Hernan, AE (reprint author), 95 Carrigan Dr,Stafford 118F, Burlington, VT 05405 USA.
EM Amanda.Hernan@uvm.edu
FU Emmory R. Shapses Research Fund (GLH) [R01NS075249 (RCS), R01NS076763
(PPLS)]; Great Ormond Street Children's Charity; State Foundation of
Fundamental Research of Ukraine [F46.2/001]; [1R01NS073083]
FX This work was supported by 1R01NS073083 (awarded to GLH), Emmory R.
Shapses Research Fund (GLH), R01NS075249 (RCS) and R01NS076763 (PPLS).
RCS is funded by Great Ormond Street Children's Charity. El is funded by
State Foundation of Fundamental Research of Ukraine F46.2/001.
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NR 45
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 0969-9961
EI 1095-953X
J9 NEUROBIOL DIS
JI Neurobiol. Dis.
PD MAR
PY 2014
VL 63
BP 25
EP 34
DI 10.1016/j.nbd.2013.11.012
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA 304LS
UT WOS:000330749000004
PM 24269731
ER
PT J
AU Radley, KC
Jenson, WR
Clark, E
O'Neill, RE
AF Radley, Keith C.
Jenson, William R.
Clark, Elaine
O'Neill, Robert E.
TI THE FEASIBILITY AND EFFECTS OF A PARENT-FACILITATED SOCIAL SKILLS
TRAINING PROGRAM ON SOCIAL ENGAGEMENT OF CHILDREN WITH AUTISM SPECTRUM
DISORDERS
SO PSYCHOLOGY IN THE SCHOOLS
LA English
DT Article
ID HIGH-FUNCTIONING CHILDREN; BEHAVIORAL-DISORDERS; YOUNG-CHILDREN;
INTERVENTIONS; METAANALYSIS; STUDENTS
AB Due to impairments in social interactions and communication, children with autism spectrum disorders (ASD) have a need for effective social skills training programs. However, many programs fail due to a lack of acquisition, maintenance, and generalization of target skills. The primary purpose of this study was to evaluate the feasibility and outcomes of a parent-facilitated social skills training program, designed to overcome the shortcomings of acquisition, generalization, and maintenance of other programs for children with ASD. Participants in the current study included 5 children with ASD and their parents, recruited from a western state. This study expands previous research by training parents in implementation of a social skills training program comprising several evidence-based practices. The results of the parent-facilitated intervention are provided, and implications for practice and future research are discussed.
C1 [Radley, Keith C.] Univ So Mississippi, Hattiesburg, MS 39401 USA.
[Jenson, William R.; Clark, Elaine; O'Neill, Robert E.] Univ Utah, Salt Lake City, UT 84112 USA.
RP Radley, KC (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr 5025, Hattiesburg, MS 39401 USA.
EM keith.radley@usm.edu
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NR 45
TC 5
Z9 5
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0033-3085
EI 1520-6807
J9 PSYCHOL SCHOOLS
JI Psychol. Schools
PD MAR
PY 2014
VL 51
IS 3
BP 241
EP 255
DI 10.1002/pits.21749
PG 15
WC Psychology, Educational
SC Psychology
GA 297PQ
UT WOS:000330267800002
ER
PT J
AU Etz, T
Reetz, H
Wegener, C
Bahlmann, F
AF Etz, Tanja
Reetz, Henning
Wegener, Carla
Bahlmann, Franz
TI Infant cry reliability: Acoustic homogeneity of spontaneous cries and
pain-induced cries
SO SPEECH COMMUNICATION
LA English
DT Article
DE Infant cry; Reliability; Acoustic analysis
ID AUTISM SPECTRUM DISORDER; NEWBORN-INFANTS; HEARING IMPAIRMENT; SOUND
SPECTROGRAM; AGREEMENT; DIAGNOSIS; EXPOSURE; STIMULI; MELODY; RISK
AB Infant cries can indicate certain developmental disorders and therefore may be suited for early diagnosis. An open research question is which type of crying (spontaneous, pain-induced) is best suited for infant cry analysis. For estimating the degree of consistency among single cries in an episode of crying, healthy infants were recorded and allocated to the four groups spontaneous cries, spontaneous non-distressed cries, pain-induced cries and pain-induced cries without the first cry after pain stimulus. 19 acoustic parameters were computed and statistically analyzed on their reliability with Krippendorff's Alpha. Krippendorff's Alpha values between 0.184 and 0.779 were reached over all groups. No significant differences between the cry groups were found. However, the non-distressed cries reached the highest alpha values in 16 out of 19 acoustic parameters by trend. The results show that the single cries within an infant's episode of crying are not very reliable in general. For the cry types, the non-distressed cry is the one with the best reliability making it the favorite for infant cry analysis. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Etz, Tanja; Wegener, Carla] Fresenius Univ Appl Sci Idstein, D-65510 Idstein, Germany.
[Etz, Tanja; Reetz, Henning] Goethe Univ Frankfurt, Dept Phonet, D-60325 Frankfurt, Germany.
[Bahlmann, Franz] Burgerhosp Frankfurt Main, D-60318 Frankfurt, Germany.
RP Etz, T (reprint author), Mullerwies 14, D-65232 Taunusstein, Germany.
EM tanja.etz@hs-fresenius.de; reetz@em.uni-frankfurt.de;
wegener@hs-fresenius.de; f.bahlmann@buergerhospital-ffm.de
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NR 55
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0167-6393
EI 1872-7182
J9 SPEECH COMMUN
JI Speech Commun.
PD MAR
PY 2014
VL 58
BP 91
EP 100
DI 10.1016/j.specom.2013.11.006
PG 10
WC Acoustics; Computer Science, Interdisciplinary Applications
SC Acoustics; Computer Science
GA 293FE
UT WOS:000329956000007
ER
PT J
AU Head, AM
McGillivray, JA
Stokes, MA
AF Head, Alexandra M.
McGillivray, Jane A.
Stokes, Mark A.
TI Gender differences in emotionality and sociability in children with
autism spectrum disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Female profile; Friendship; Social skills
ID HIGH-FUNCTIONING CHILDREN; SEX-DIFFERENCES; FRIENDSHIP INTERACTIONS;
UNDERSTANDING OTHERS; ASPERGER-SYNDROME; SOCIAL NETWORKS;
EARLY-CHILDHOOD; TRADE-OFFS; BOYS; GIRLS
AB Background: Four times as many males are diagnosed with high functioning autism compared to females. A growing body of research that focused on females with autism spectrum disorder (ASD) questions the assumption of gender invariance in ASD. Clinical observations suggest that females with ASD superficially demonstrate better social and emotional skills than males with ASD, which may camouflage other diagnostic features. This may explain the under-diagnosis of females with ASD.
Methods: We hypothesised that females with ASD would display better social skills than males with ASD on a test of friendship and social function. One hundred and one 10-to 16-year-olds (ASD females, n = 25; typically developing (TD) females, n = 25; ASD males, n = 25; TD males, n = 26) were interviewed (using the friendship questionnaire (FQ)) with high scores indicating the child has close, empathetic and supportive relationships. One parent of each child completed the FQ to assess whether there are differences in perception of friendships between parents and children.
Results: It was found that, independent of diagnosis, females demonstrated higher scores on the FQ than males. Further, regardless of gender, children with ASD demonstrated lower scores than TD children. Moreover, the effect of ASD was independent of gender. Interestingly, females with ASD and TD males displayed similar scores on the FQ.
Conclusions: This finding is supported by clinical reports that females with ASD have more developed social skills than males with ASD. Further research is now required to examine the underlying causes for this phenomenon in order to develop gender-appropriate diagnostic criteria and interventions for ASD.
C1 [Head, Alexandra M.; McGillivray, Jane A.; Stokes, Mark A.] Deakin Univ, Sch Psychol, Burwood, Vic 3125, Australia.
RP McGillivray, JA (reprint author), Deakin Univ, Sch Psychol, 221 Burwood Highway, Burwood, Vic 3125, Australia.
EM jane.mcgillivray@deakin.edu.au
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NR 53
TC 4
Z9 4
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 FEB 28
PY 2014
VL 5
AR 19
DI 10.1186/2040-2392-5-19
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XM
UT WOS:000334717900001
PM 24576331
ER
PT J
AU Lin, IF
Kashino, M
Ohta, H
Yamada, T
Tani, M
Watanabe, H
Kanai, C
Ohno, T
Takayama, Y
Iwanami, A
Kato, N
AF Lin, I-Fan
Kashino, Makio
Ohta, Haruhisa
Yamada, Takashi
Tani, Masayuki
Watanabe, Hiromi
Kanai, Chieko
Ohno, Taisei
Takayama, Yuko
Iwanami, Akira
Kato, Nobumasa
TI The effect of intranasal oxytocin versus placebo treatment on the
autonomic responses to human sounds in autism: a single-blind,
randomized, placebo-controlled, crossover design study
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Oxytocin; Clinical trial; Auditory; Social cognition; Skin
conductance response; Autonomic system
ID RECEPTOR GENE OXTR; SPECTRUM DISORDERS; AUDITORY-STIMULI;
NORMAL-CHILDREN; SOCIAL COGNITION; NEURAL CIRCUITRY; EYE GAZE;
ASSOCIATION; ADULTS; FACES
AB Background: Many individuals with autism spectrum disorders (ASD) have difficulty with verbal communication, which might be due to a lack of spontaneous orientation toward social auditory stimuli. Previous studies have shown that a single dose of oxytocin improves speech comprehension in autism. The primary aim of this study was to investigate whether the orientation behaviors toward human sounds are different for neurotypical (NT) adults and adults with ASD and whether oxytocin has an effect on their orientation behaviors toward human sounds.
Methods: This was a randomized, placebo-controlled, within-subject, crossover design study of intranasal oxytocin versus placebo in 13 NT adults and 16 adults with ASD. Subjects were randomized to 24 IU intranasal oxytocin or placebo on different days, and they were blind to the treatment. The participants then listened passively to human and non-human affective sounds while their skin conductance responses (SCRs) and the changes in peripheral blood vessel constriction were monitored as an indicator of spontaneous orientation. The monitored data were analyzed by a mixed-design ANOVA.
Results: Oxytocin enhanced the difference between the SCRs to human and non-human sounds in both the NT and ASD groups (F(1,56) = 6.046, p = 0.017). Further correlation coefficient analysis showed significant correlations between this SCR difference and the scores in the autism spectrum quotient 'attention to detail' and 'social skill' subscales and interpersonal reactivity index and social functioning scale in the ASD group. Oxytocin was well tolerated, and no serious adverse effects were reported.
Conclusions: The difference in SCRs implies that oxytocin nasal spray may enhance orientation behaviors toward human sounds in the presence of other environmental sounds in both ASD and NT adults.
C1 [Lin, I-Fan; Kashino, Makio] NTT Corp, NTT Commun Sci Labs, Atsugi, Kanagawa 2430198, Japan.
[Kashino, Makio] JST, CREST, Atsugi, Kanagawa 2430198, Japan.
[Ohta, Haruhisa; Yamada, Takashi; Tani, Masayuki; Watanabe, Hiromi; Kanai, Chieko; Ohno, Taisei; Takayama, Yuko; Iwanami, Akira; Kato, Nobumasa] Showa Univ, Dept Psychiat, Sch Med, Shinagawa Ku, Tokyo 1428555, Japan.
[Kato, Nobumasa] JST, CREST, Shinagawa Ku, Tokyo 1428555, Japan.
RP Lin, IF (reprint author), NTT Corp, NTT Commun Sci Labs, 3-1 Morinosato, Atsugi, Kanagawa 2430198, Japan.
EM lin.ifan@lab.ntt.co.jp
FU Japan Science and Technology Agency; NTT Communication Science
Laboratories
FX We would like to thank all the participants for their time and effort.
This study is supported by the Japan Science and Technology Agency and
NTT Communication Science Laboratories.
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NR 50
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 FEB 28
PY 2014
VL 5
AR 20
DI 10.1186/2040-2392-5-20
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KX
UT WOS:000334965800001
PM 24576333
ER
PT J
AU Prieto, MJ
Zabala, NED
Marotta, CH
Gutierrez, HC
Arevalo, RA
Chiaramoni, NS
Alonso, SD
AF Jimena Prieto, Maria
del Rio Zabala, Nahuel Eduardo
Hernan Marotta, Cristian
Carreno Gutierrez, Hector
Arevalo Arevalo, Rosario
Silvia Chiaramoni, Nadia
del Valle Alonso, Silvia
TI Optimization and In Vivo Toxicity Evaluation of G4.5 Pamam
Dendrimer-Risperidone Complexes
SO PLOS ONE
LA English
DT Article
ID ORAL-DRUG DELIVERY; POLY(AMIDOAMINE) DENDRIMERS; ANTIPSYCHOTIC-DRUGS;
VISUAL PATHWAY; CELL VIABILITY; ZEBRAFISH; CARRIERS; BRAIN; MODEL;
AUTISM
AB Risperidone is an approved antipsychotic drug belonging to the chemical class of benzisoxazole. This drug has low solubility in aqueous medium and poor bioavailability due to extensive first-pass metabolism and high protein binding (>90%). Since new strategies to improve efficient treatments are needed, we studied the efficiency of anionic G4.5 PAMAM dendrimers as nanocarriers for this therapeutic drug. To this end, we explored dendrimer-risperidone complexation dependence on solvent concentration, pH and molar relationship. The best dendrimer-risperidone incorporation (46 risperidone molecules per dendrimer) was achieved with a mixture of chloroform: methanol 50:50 v/v solution pH 3. In addition, to explore the possible effects of this complex, in vivo studies were carried out in the zebrafish model. Changes in the development of dopaminergic neurons and motoneurons were studied using tyrosine hydroxylase and calretinin, respectively. Physiological changes were studied through histological sections stained with hematoxylin-eosin to observe possible morphological brain changes. The most significant changes were observed when larvae were treated with free risperidone, and no changes were observed when larvae were treated with the complex.
C1 [Jimena Prieto, Maria; del Rio Zabala, Nahuel Eduardo; Hernan Marotta, Cristian; Silvia Chiaramoni, Nadia; del Valle Alonso, Silvia] Natl Univ Quilmes, Dept Sci & Technol, Biomembrane Lab, Buenos Aires, DF, Argentina.
[Jimena Prieto, Maria; del Rio Zabala, Nahuel Eduardo; Hernan Marotta, Cristian; Silvia Chiaramoni, Nadia; del Valle Alonso, Silvia] CCT La Plata, CONICET, IMBICE, La Plata, Buenos Aires, Argentina.
[Carreno Gutierrez, Hector; Arevalo Arevalo, Rosario] Univ Salamanca, Sch Med, Dept Cell Biol & Pathol, Inst Neurosci Castilla & Leon, E-37008 Salamanca, Spain.
RP Prieto, MJ (reprint author), Natl Univ Quilmes, Dept Sci & Technol, Biomembrane Lab, Buenos Aires, DF, Argentina.
EM jprieto@unq.edu.ar
FU Universidad Nacional de Quilmes (Buenos Aires, Argentina); Consejo
Nacional de Investigaciones Cientificas y Tecnicas (CONICET, Argentina);
Ministerio Nacional de Ciencia, Tecnologia e Innovacion Productiva
(MINCYT), Buenos Aires (Argentina)
FX This research was supported by a grant from Universidad Nacional de
Quilmes (Buenos Aires, Argentina), Consejo Nacional de Investigaciones
Cientificas y Tecnicas (CONICET, Argentina) and Ministerio Nacional de
Ciencia, Tecnologia e Innovacion Productiva (MINCYT), Buenos Aires
(Argentina). The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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NR 52
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD FEB 28
PY 2014
VL 9
IS 2
AR e90393
DI 10.1371/journal.pone.0090393
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC3DW
UT WOS:000332396200188
PM 24587349
ER
PT J
AU Jeong, JW
Tiwari, VN
Behen, ME
Chugani, HT
Chugani, DC
AF Jeong, Jeong-Won
Tiwari, Vijay N.
Behen, Michael E.
Chugani, Harry T.
Chugani, Diane C.
TI In vivo detection of reduced Purkinje cell fibers with diffusion MRI
tractography in children with autistic spectrum disorders
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE Purkinje cell; dentate nucleus; autism spectrum disorders; diffusion
weighted MRI; independent component analysis tractography with a ball
and stick model
ID TUBEROUS SCLEROSIS COMPLEX; PHYSIOLOGICAL NOISE; CEREBELLAR NUCLEI;
BRAIN; ACTIVATION; DYSFUNCTION; BEHAVIOR; PATHWAY; TENSOR; INJURY
AB Postmortem neuropathology studies report reduced number and size of Purkinje cells (PC) in a majority of cerebellar specimens from persons diagnosed with autism spectrum disorders (ASD). We used diffusion weighted MRI tractography to investigate whether structural changes associated with reduced number and size of PC, could be detected in vivo by measuring streamlines connecting the posterior-lateral region of the cerebellar cortex to the dentate nucleus using as independent component analysis with a ball and stick model. Seed regions were identified in the cerebellar cortex, and streamlines were identified to two sorting regions, the dorsal dentate nucleus (DDN) and the ventral dentate nucleus (VDN), and probability of connection and measures of directional coherence for these streamlines were calculated. Tractography was performed in 14 typically developing children (TD) and 15 children with diagnoses of ASD. Decreased numbers of streamlines were found in the children with ASD in the pathway connecting cerebellar cortex to the right VDN (p-value = 0.015). Reduced fractional anisotrophy (FA) values were observed in pathways connecting the cerebellar cortex to the right DDN (p-value = 0.008), the right VDN (p-value = 0.010) and left VDN (p-value = 0.020) in children with ASD compared to the TD group. In an analysis of single subjects, reduced FA in the pathway connecting cerebellar cortex to the right VDN was found in 73% of the children in the ASD group using a threshold of 3 standard errors of the TD group. The detection of diffusion changes in cerebellum may provide an in vivo biomarker of Purkinje cell pathology in children with ASD.
C1 [Jeong, Jeong-Won; Tiwari, Vijay N.; Behen, Michael E.; Chugani, Harry T.; Chugani, Diane C.] Wayne State Univ, Dept Pediat & Neurol, Detroit, MI 48201 USA.
[Jeong, Jeong-Won; Tiwari, Vijay N.; Behen, Michael E.; Chugani, Harry T.; Chugani, Diane C.] Childrens Hosp Michigan, PET Ctr, Translat Imaging Lab, Detroit, MI 48201 USA.
RP Jeong, JW (reprint author), Wayne State Univ, Dept Pediat & Neurol, 3901 Beaubien Blvd, Detroit, MI 48201 USA.
EM jeongwon@pet.wayne.edu
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NR 50
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 FEB 28
PY 2014
VL 8
AR 110
DI 10.3389/fnhum.2014.00110
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AB9XW
UT WOS:000332150000001
PM 24592234
ER
PT J
AU Marchese, M
Conti, V
Valvo, G
Moro, F
Muratori, F
Tancredi, R
Santorelli, FM
Guerrini, R
Sicca, F
AF Marchese, Maria
Conti, Valerio
Valvo, Giulia
Moro, Francesca
Muratori, Filippo
Tancredi, Raffaella
Santorelli, Filippo M.
Guerrini, Renzo
Sicca, Federico
TI Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not
GLIALCAM, genetic screening
SO BMC MEDICAL GENETICS
LA English
DT Article
DE Autism spectrum disorders; Autism-epilepsy phenotype; Macrocephaly;
GLIALCAM; PTEN
ID HEAD CIRCUMFERENCE GROWTH; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; SPECTRUM
DISORDERS; SUBCORTICAL CYSTS; CHLORIDE CHANNEL; MUTATIONS; CELL;
ASTROCYTES; MLC1; RETARDATION
AB Background: With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic background. Macrocephaly also represents a well-known endophenotype in subgroups of ASD individuals, which suggests pathogenic mechanisms accelerating brain growth in early development and predisposing to the disorder. We attempted to estimate the association of gene variants with neurodevelopmental disorders in patients with autism-epilepsy phenotype (AEP) and cranial overgrowth, analyzing two genes previously reported to be associated with autism and macrocephaly.
Methods: We analyzed the coding sequences and exon-intron boundaries of GLIALCAM, encoding an IgG-like cell adhesion protein, in 81 individuals with Autism Spectrum Disorders, either with or without comorbid epilepsy, paroxysmal EEG and/or macrocephaly, and the PTEN gene in the subsample with macrocephaly.
Results: Among 81 individuals with ASD, 31 had concurrent macrocephaly. Head circumference, moreover, was over the 99.7th percentile ('' extreme '' macrocephaly) in 6/31 (19%) patients. Whilst we detected in GLIALCAM several single nucleotide variants without clear pathogenic effects, we found a novel PTEN heterozygous frameshift mutation in one case with '' extreme '' macrocephaly, autism, intellectual disability and seizures.
Conclusions: We did not find a clear association between GLIALCAM mutations and AEP-macrocephaly comorbidity. The identification of a novel frameshift variant of PTEN in a patient with '' extreme '' macrocephaly, autism, intellectual disability and seizures, confirms this gene as a major candidate in the ASD-macrocephaly endophenotype. The concurrence of epilepsy in the same patient also suggests that PTEN, and the downstream signaling pathway, might deserve to be investigated in autism-epilepsy comorbidity. Working on clinical endophenotypes might be of help to address genetic studies and establish actual causative correlations in autism-epilepsy.
C1 [Marchese, Maria; Moro, Francesca; Santorelli, Filippo M.] IRCCS Stella Maris Fdn, Mol Med Unit, I-56128 Pisa, Calambrone, Italy.
[Conti, Valerio; Guerrini, Renzo] A Meyer Pediat Hosp, Child Neurol Unit, I-50139 Florence, Italy.
[Valvo, Giulia; Guerrini, Renzo; Sicca, Federico] IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, I-56128 Pisa, Calambrone, Italy.
[Muratori, Filippo; Tancredi, Raffaella] IRCCS Stella Maris Fdn, Dev Psychiat Unit, I-56128 Pisa, Calambrone, Italy.
RP Sicca, F (reprint author), IRCCS Stella Maris Fdn, Clin Neurophysiol Lab, Viale Tirreno 331, I-56128 Pisa, Calambrone, Italy.
EM federico.sicca@fsm.unipi.it
FU Telethon-Italy [GGP11188]; Fondazione Cassa di Risparmio di Lucca;
European Union; E-Rare-2; TUB-GENCODEV [11-027]
FX The financial support of Telethon-Italy (http://www.telethon.it/en;
Grant no. GGP11188) is gratefully acknowledged. The financial
contribution of Fondazione Cassa di Risparmio di Lucca, and of the
European Union (European Research Projects on Rare Diseases, E-Rare-2,
TUB-GENCODEV, 11-027) are also acknowledged. Finally, we wish to thank
Dr. Catherine J. Wrenn for expert editorial assistance.
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NR 46
TC 3
Z9 3
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2350
J9 BMC MED GENET
JI BMC Med. Genet.
PD FEB 27
PY 2014
VL 15
AR 26
DI 10.1186/1471-2350-15-26
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AF2IF
UT WOS:000334535100001
PM 24580998
ER
PT J
AU Stessman, HA
Bernier, R
Eichler, EE
AF Stessman, Holly A.
Bernier, Raphael
Eichler, Evan E.
TI A Genotype-First Approach to Defining the Subtypes of a Complex Disease
SO CELL
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; CLUSTER-ANALYSIS;
CHILDREN; TIME; PHENOTYPE; DISCOVERY; GENOME
AB Medical genetics typically entails the detailed characterization of a patient's phenotypes followed by genotyping to discover the responsible gene or mutation. Here, we propose that the systematic discovery of genetic variants associated with complex diseases such as autism are progressing to a point where a reverse strategy may be fruitful in assigning the pathogenic effects of many different genes and in determining whether particular genotypes manifest as clinically recognizable phenotypes. This "genotype-first" approach for complex disease necessitates the development of large, highly integrated networks of researchers, clinicians, and patient families, with the promise of improved therapies for subsets of patients.
C1 [Stessman, Holly A.; Eichler, Evan E.] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
[Bernier, Raphael] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Eichler, Evan E.] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.
RP Eichler, EE (reprint author), Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.
EM eee@gs.washington.edu
FU U.S. National Institute of Mental Health (NIMH) [MH101221]; Simons
Foundation Autism Research Initiative (SFARI) [303241]
FX This work was supported, in part, by U.S. National Institute of Mental
Health (NIMH) grant MH101221 and by the Simons Foundation Autism
Research Initiative (SFARI) 303241 to E.E.E. E.E.E. is an investigator
of the Howard Hughes Medical Institute. E.E.E. is on the scientific
advisory boards (SABs) of DNAnexus, Inc. and was an SAB member of
Pacific Biosciences, Inc. (2009-2013) and SynapDx Corp. (2011-2013).
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NR 35
TC 16
Z9 16
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 FEB 27
PY 2014
VL 156
IS 5
BP 872
EP 877
DI 10.1016/j.cell.2014.02.002
PG 6
WC Biochemistry & Molecular Biology; Cell Biology
SC Biochemistry & Molecular Biology; Cell Biology
GA AB9BK
UT WOS:000332083900006
PM 24581488
ER
PT J
AU Clarke, RA
Eapen, V
AF Clarke, Raymond A.
Eapen, Valsamma
TI Balance within the neurexin trans-synaptic connexus stabilizes
behavioral control
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE neurexin; NLGN; LRRTM; CBLN; GRID; LRRN; Autism; Tourette
ID AUTISM SPECTRUM DISORDERS; LA-TOURETTE-SYNDROME; COPY NUMBER VARIANTS;
OBSESSIVE-COMPULSIVE DISORDER; DE-NOVO MUTATIONS; TRANSMEMBRANE
PROTEINS; SYNAPSE MATURATION; AMPA RECEPTORS; RARE DELETIONS; FAMILY
AB Autism spectrum disorder (ASD) is characterized by a broad spectrum of behavioral deficits of unknown etiology. ASD associated mutations implicate numerous neurological pathways including a common association with the neurexin trans-synaptic connexus (NTSC) which regulates neuronal cell-adhesion, neuronal circuitry, and neurotransmission. Comparable DNA lesions affecting the NTSC, however, associate with a diversity of behavioral deficits within and without the autism spectrum including a very strong association with Tourette syndrome. The NTSC is comprised of numerous post-synaptic ligands competing for trans-synaptic connection with one of the many different neurexin receptors yet no apparent association exists between specific NTSC molecules/complexes and specific behavioral deficits. Together these findings indicate a fundamental role for NTSC-balance in stabilizing pre-behavioral control. Further molecular and clinical characterization and stratification of ASD and TS on the basis of NTSC status will help elucidate the molecular basis of behavior - and define how the NTSC functions in combination with other molecular determinates to strengthen behavioral control and specify behavioral deficits.
C1 [Clarke, Raymond A.] Univ Western Sydney, Sch Med, Ingham Inst, Sydney, NSW 2170, Australia.
[Eapen, Valsamma] Univ New S Wales, Sch Psychiat, Sydney, NSW, Australia.
[Eapen, Valsamma] Liverpool Hosp, South West Sydney AUCS, Sydney, NSW, Australia.
RP Clarke, RA (reprint author), Univ Western Sydney, Sch Med, Ingham Inst, 1 Campbell St, Sydney, NSW 2170, Australia.
EM raymond.clarke@uws.edu.au
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NR 74
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 FEB 27
PY 2014
VL 8
AR 52
DI 10.3389/fnhum.2014.00052
PG 6
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AB9MU
UT WOS:000332119100001
PM 24578685
ER
PT J
AU Ziv, N
Radin, S
AF Ziv, Naomi
Radin, Shulamit
TI Absolute and relative pitch: Global versus local processing of chords
SO ADVANCES IN COGNITIVE PSYCHOLOGY
LA English
DT Article
DE absolute pitch; relative pitch; global processing; local processing
ID MUSICAL INTERVALS; HIGH-PERFORMANCE; PERCEPTION; AUTISM; MUSICIANS;
BRAIN; IDENTIFICATION; POSSESSORS; RECOGNITION; COGNITION
AB Absolute pitch (AP) is the ability to identify or produce notes without any reference note. An ongoing debate exists regarding the benefits or disadvantages of AP in processing music. One of the main issues in this context is whether the categorical perception of pitch in AP possessors may interfere in processing tasks requiring relative pitch (RP). Previous studies, focusing mainly on melodic and interval perception, have obtained inconsistent results. The aim of the present study was to examine the effect of AP and RP separately, using isolated chords. Seventy-three musicians were categorized into four groups of high and low AP and RP, and were tested on two tasks: identifying chord types (Task 1), and identifying a single note within a chord (Task 2). A main effect of RP on Task 1 and an interaction between AP and RP in reaction times were found. On Task 2 main effects of AP and RP, and an interaction were found, with highest performance in participants with both high AP and RP. Results suggest that AP and RP should be regarded as two different abilities, and that AP may slow down reaction times for tasks requiring global processing.
C1 [Ziv, Naomi] Coll Management Acad Studies, Dept Psychol, Rishon Leziyyon, Israel.
[Radin, Shulamit] Tel Aviv Yafo Acad Coll, Dept Behav Sci, Tel Aviv, Israel.
RP Ziv, N (reprint author), 7 Yitzhak Rabin Blvd, IL-75190 Rishon Leziyyon, Israel.
EM naomiziv@mta.ac.il
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NR 53
TC 2
Z9 2
PU VIZJA PRESS & IT
PI WARSZAWA
PA UL DZIELNA 60, WARSZAWA, 01-029, POLAND
SN 1895-1171
J9 ADV COGN PSYCHOL
JI Adv. Cogn. Psychol.
PD FEB 27
PY 2014
VL 10
IS 1
BP 15
EP 25
DI 10.5709/acp-0152-7
PG 11
WC Psychology, Experimental
SC Psychology
GA CB8RX
UT WOS:000349899700003
PM 24855499
ER
PT J
AU Coben, R
Mohammad-Rezazadeh, I
Cannon, RL
AF Coben, Robert
Mohammad-Rezazadeh, Iman
Cannon, Rex L.
TI Using quantitative and analytic EEG methods in the understanding of
connectivity in autism spectrum disorders: a theory of mixed over- and
under-connectivity
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders; EEG/MEG; connectivity analysis; coherence
analysis; sLORETA; granger causation analysis
ID REDUCED FUNCTIONAL CONNECTIVITY; ELECTROMAGNETIC TOMOGRAPHY; SOCIAL
COGNITION; FRONTAL-CORTEX; BRAIN; EPILEPSY; COHERENCE; CHILDREN; MODEL;
LOCALIZATION
AB Neuroimaging technologies and research has shown that autism is largely a disorder of neuronal connectivity. While advanced work is being done with fMRI, MRI-DTI, SPECT and other forms of structural and functional connectivity analyses, the use of EEG for these purposes is of additional great utility. Cantor et al. (1986) were the first to examine the utility of pairwise coherence measures for depicting connectivity impairments in autism. Since that time research has shown a combination of mixed over and under-connectivity that is at the heart of the primary symptoms of this multifaceted disorder. Nevertheless, there is reason to believe that these simplistic pairwise measurements under represent the true and quite complicated picture of connectivity anomalies in these persons. We have presented three different forms of multivariate connectivity analysis with increasing levels of sophistication (including one based on principle components analysis, sLORETA source coherence, and Granger causality) to present a hypothesis that more advanced statistical approaches to EEG coherence analysis may provide more detailed and accurate information than pairwise measurements. A single case study is examined with findings from MR-DTI, pairwise and coherence and these three forms of multivariate coherence analysis. In this case pairwise coherences did not resemble structural connectivity, whereas multivariate measures did. The possible advantages and disadvantages of different techniques are discussed. Future work in this area will be important to determine the validity and utility of these techniques.
C1 [Coben, Robert] Neurorehabil & Neuropsychol Serv, Massapequa Park, NY USA.
[Coben, Robert] Integrated Neurosci Serv, Fayetteville, AR 72703 USA.
[Mohammad-Rezazadeh, Iman] Univ Calif Davis, Ctr Mind & Brain, Davis, CA 95616 USA.
[Mohammad-Rezazadeh, Iman] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
[Cannon, Rex L.] Psychoeduc Network, Knoxville, TN USA.
RP Coben, R (reprint author), Integrated Neurosci Serv, 86 West Sunbridge Dr, Fayetteville, AR 72703 USA.
EM drcoben@integratedneuroscienceservices.com
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NR 97
TC 2
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 FEB 26
PY 2014
VL 8
AR 45
DI 10.3389/fnhum.2014.00045
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AB9FQ
UT WOS:000332096500001
PM 24616679
ER
PT J
AU Lodhia, V
Brock, J
Johnson, BW
Hautus, MJ
AF Lodhia, Veema
Brock, Jon
Johnson, Blake W.
Hautus, Michael J.
TI Reduced object related negativity response indicates impaired auditory
scene analysis in adults with autistic spectrum disorder
SO PEERJ
LA English
DT Article
DE Autism; Auditory scene analysis; Object related negativity; Event
related potential; Binaural processing; Electroencephalography; ORN;
P400; Dichotic pitch
ID EVENT-RELATED POTENTIALS; PLANUM TEMPORALE; NEUROMAGNETIC RESPONSES;
PERCEPTUAL SEGREGATION; SPATIAL LOCALIZATION; BRAIN POTENTIALS; DICHOTIC
PITCH; CHILDREN; INFORMATION; INFANTS
AB Auditory Scene Analysis provides a useful framework for understanding atypical auditory perception in autism. Specifically, a failure to segregate the incoming acoustic energy into distinct auditory objects might explain the aversive reaction autistic individuals have to certain auditory stimuli or environments. Previous research with non-autistic participants has demonstrated the presence of an Object Related Negativity (ORN) in the auditory event related potential that indexes pre-attentive processes associated with auditory scene analysis. Also evident is a later P400 component that is attention dependent and thought to be related to decision-making about auditory objects. We sought to determine whether there are differences between individuals with and without autism in the levels of processing indexed by these components. Electroencephalography (EEG) was used to measure brain responses from a group of 16 autistic adults, and 16 age- and verbal-IQ-matched typically-developing adults. Auditory responses were elicited using lateralized dichotic pitch stimuli in which inter-aural timing differences create the illusory perception of a pitch that is spatially separated from a carrier noise stimulus. As in previous studies, control participants produced an ORN in response to the pitch stimuli. However, this component was significantly reduced in the participants with autism. In contrast, processing differences were not observed between the groups at the attention-dependent level (P400). These findings suggest that autistic individuals have difficulty segregating auditory stimuli into distinct auditory objects, and that this difficulty arises at an early pre-attentive level of processing.
C1 [Lodhia, Veema; Hautus, Michael J.] Univ Auckland, Sch Psychol, Res Ctr Cognit Neurosci, Auckland 1, New Zealand.
[Brock, Jon; Johnson, Blake W.] Macquarie Univ, Dept Cognit Sci, Sydney, NSW 2109, Australia.
RP Hautus, MJ (reprint author), Univ Auckland, Sch Psychol, Res Ctr Cognit Neurosci, Auckland 1, New Zealand.
EM m.hautus@auckland.ac.nz
FU Australian Research Council (ARC) Centre of Excellence for Cognition and
its Disorders [CE110001021]; ARC Australian Research Fellowship
[DP098466]
FX The work of BWJ and JB was supported by the Australian Research Council
(ARC) Centre of Excellence for Cognition and its Disorders
(CE110001021): http://www.ccd.edu.au. JB was supported by an ARC
Australian Research Fellowship (DP098466). 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 46
TC 1
Z9 1
PU PEERJ INC
PI LONDON
PA 341-345 OLD ST, THIRD FLR, LONDON, EC1V 9LL, ENGLAND
SN 2167-8359
J9 PEERJ
JI PeerJ
PD FEB 25
PY 2014
VL 2
AR e261
DI 10.7717/peerj.261
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AY4PE
UT WOS:000347560000001
PM 24688845
ER
PT J
AU Al-Ghamdi, M
Al-Ayadhi, L
El-Ansary, A
AF Al-Ghamdi, Mashael
Al-Ayadhi, Laila
El-Ansary, Afaf
TI Selected biomarkers as predictive tools in testing efficacy of melatonin
and coenzyme Q on propionic acid - induced neurotoxicity in rodent model
of autism
SO BMC NEUROSCIENCE
LA English
DT Article
DE Propionic acid; Melatonin; Coenzyme Q; Serotonin; Gamma amino-butyric
acid; Dopamine; Oxytocin; Interferon gamma-inducible protein 16; Comet
DNA; Autism
ID HEAT-SHOCK PROTEINS; SPECTRUM DISORDERS; OXIDATIVE STRESS;
SOCIAL-BEHAVIOR; LOCAL INFLAMMATION; RAT-BRAIN; PROTECTION; OXYTOCIN;
PRODUCT; VASOPRESSIN
AB Background: Exposures to environmental toxins are now thought to contribute to the development of autism spectrum disorder. Propionic acid (PA) found as a metabolic product of gut bacteria has been reported to mimic/mediate the neurotoxic effects of autism. Results from animal studies may guide investigations on human populations toward identifying environmental contaminants that produce or drugs that protect from neurotoxicity. Forty-eight young male Western Albino rats were used in the present study. They were grouped into six equal groups 8 rats each. The first group received a neurotoxic dose of buffered PA (250 mg/Kg body weight/day for 3 consecutive days). The second group received only phosphate buffered saline (control group). The third and fourth groups were intoxicated with PA as described above followed by treatment with either coenzyme Q (4.5 mg/kg body weight) or melatonin (10 mg/kg body weight) for one week (therapeutically treated groups). The fifth and sixth groups were administered both compounds for one week prior to PA (protected groups). Heat shock protein70 (Hsp70), Gamma amino-butyric acid (GABA), serotonin, dopamine, oxytocin and interferon.-inducible protein 16 together with Comet DNA assay were measured in brain tissues of the six studied groups.
Results: The obtained data showed that PA caused multiple signs of brain toxicity revealed in depletion of GABA, serotonin, and dopamine, are which important neurotransmitters that reflect brain function, interferon.-inducible protein 16 and oxytocin. A high significant increase in tail length, tail DNA% damage and tail moment was reported indicating the genotoxic effect of PA. Administration of melatonin or coenzyme Q showed both protective and therapeutic effects on PA-treated rats demonstrated in a remarkable amelioration of most of the measured parameters.
Conclusion: In conclusion, melatonin and coenzyme Q have potential protective and restorative effects against PA-induced brain injury, confirmed by improvement in biochemical markers and DNA double strand breaks.
C1 [Al-Ghamdi, Mashael; El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 11495, Saudi Arabia.
[El-Ansary, Afaf] Natl Res Ctr, Therapuet Chem Dept, Cairo, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU research center of the Center for Female Scientific and Medical Colleges
in King Saud University; King Abdul-Aziz City for Science and Technology
(KACST)
FX This research project was supported by a grant from the research center
of the Center for Female Scientific and Medical Colleges in King Saud
University. We extend our appreciation to King Abdul-Aziz City for
Science and Technology (KACST) for co-funding the work.
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NR 57
TC 1
Z9 1
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2202
J9 BMC NEUROSCI
JI BMC Neurosci.
PD FEB 25
PY 2014
VL 15
AR 34
DI 10.1186/1471-2202-15-34
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AF7JG
UT WOS:000334890300001
PM 24568717
ER
PT J
AU Arslan, RC
Penke, L
Johnson, W
Iacono, WG
McGue, M
AF Arslan, Ruben C.
Penke, Lars
Johnson, Wendy
Iacono, William G.
McGue, Matt
TI The Effect of Paternal Age on Offspring Intelligence and Personality
when Controlling for Paternal Trait Level
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; MINNESOTA TWIN FAMILY; DE-NOVO MUTATIONS;
POPULATION-BASED COHORT; COPY NUMBER VARIANTS; MASSIVE IQ GAINS;
GENETIC-VARIATION; BIRTH-ORDER; TEST-SCORES; INTELLECTUAL DISABILITY
AB Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (< 1% of variance explained) on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect.
C1 [Arslan, Ruben C.] Humboldt Univ, Inst Psychol, D-10099 Berlin, Germany.
[Arslan, Ruben C.; Penke, Lars] Univ Gottingen, Inst Psychol, D-37073 Gottingen, Germany.
[Johnson, Wendy] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland.
[Johnson, Wendy] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland.
[Iacono, William G.; McGue, Matt] Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA.
RP Arslan, RC (reprint author), Humboldt Univ, Inst Psychol, D-10099 Berlin, Germany.
EM ruben.arslan@gmail.com
RI Penke, Lars/F-6918-2014
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NR 153
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 FEB 25
PY 2014
VL 9
IS 2
AR e90097
DI 10.1371/journal.pone.0090097
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AC2ZX
UT WOS:000332385900116
PM 24587224
ER
PT J
AU Kelly, AM
Goodson, JL
AF Kelly, Aubrey M.
Goodson, James L.
TI Personality is tightly coupled to vasopressin-oxytocin neuron activity
in a gregarious finch
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE vasopressin; oxytocin; social behavior; anxiety; personality; vasotocin;
mesotocin
ID AUTISM SPECTRUM DISORDERS; SOCIAL-BEHAVIOR; PARAVENTRICULAR NUCLEUS;
PARUS-MAJOR; CORTICOSTERONE RELEASE; MATERNAL AGGRESSION; VASOTOCIN
NEURONS; STRIA TERMINALIS; SEX-DIFFERENCES; ACTH RELEASE
AB Nonapeptides of the vasopressin-oxytocin family modulate social processes differentially in relation to sex, species, behavioral phenotype, and human personality. However, the mechanistic bases for these differences are not well understood, in part because multidimensional personality structures remain to be described for common laboratory animals. Based upon principal components (PC) analysis of extensive behavioral measures in social and nonsocial contexts, we now describe three complex dimensions of phenotype ("personality") for the zebra finch, a species that exhibits a human-like social organization that is based upon biparental nuclear families embedded within larger social groups. These dimensions can be characterized as Social competence/dominance, Gregariousness, and Anxiety. We further demonstrate that the phasic Fos responses of nonapeptide neurons in the paraventricular nucleus of the hypothalamus and medial bed nucleus of the stria terminalis are significantly predicted by personality, sex, social context, and their interactions. Furthermore, the behavioral PCs are each associated with a distinct suite of neural PCs that incorporate both peptide cell numbers and their phasic Fos responses, indicating that personality is reflected in complex patterns of neuromodulation arising from multiple peptide cell groups. These findings provide novel insights into the mechanisms underlying sex- and phenotype-specific modulation of behavior, and should be broadly relevant, given that vasopressin-oxytocin systems are strongly conserved across vertebrates.
C1 [Kelly, Aubrey M.; Goodson, James L.] Indiana Univ, Dept Biol, Bloomington, IN 47405 USA.
RP Goodson, JL (reprint author), Indiana Univ, Dept Biol, Jordan Hall,1001 East Third St, Bloomington, IN 47405 USA.
EM jlgoodso@indiana.edu
FU Indiana University
FX We thank Sara E. Schrock for assistance with histology. This work was
supported by Indiana University.
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NR 99
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 FEB 25
PY 2014
VL 8
AR 55
DI 10.3389/fnbeh.2014.00055
PG 14
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB5EO
UT WOS:000331811900001
PM 24611041
ER
PT J
AU Banerjee, S
Riordan, M
Bhat, MA
AF Banerjee, Swati
Riordan, Maeveen
Bhat, Manzoor A.
TI Genetic aspects of autism spectrum disorders: insights from animal
models
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorder; synapse; animal models; genetics; epigenetics;
environment; cell adhesion molecules; scaffolding proteins
ID COPY-NUMBER VARIATION; POSTSYNAPTIC DENSITY PROTEINS; GTPASE-ACTIVATING
PROTEIN; LINKED MENTAL-RETARDATION; GENOME-WIDE ASSOCIATION;
CELL-ADHESION MOLECULE; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS;
GAIN-OF-FUNCTION; SYNAPTIC PLASTICITY
AB Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development, and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy, and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute toward the formation, stabilization, and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD.
C1 [Banerjee, Swati; Riordan, Maeveen; Bhat, Manzoor A.] Univ Texas Hlth Sci Ctr, Sch Med, Ctr Biomed Neurosci, Dept Physiol, San Antonio, TX 78229 USA.
RP Banerjee, S (reprint author), Univ Texas Hlth Sci Ctr, Sch Med, Ctr Biomed Neurosci, Dept Physiol, 7703 Floyd Curl Dr, San Antonio, TX 78229 USA.
EM banerjees@uthscsa.edu; bhatm@uthscsa.edu
FU Simons Foundation Autism Research Initiative [SFARI-177037]; National
Institutes of Health [GM063074, NS050356]; University of Texas Health
Science Center, San Antonio, TX, USA
FX The work in our laboratory has been generously supported by the grants
from the Simons Foundation Autism Research Initiative (SFARI-177037),
the National Institutes of Health (GM063074, NS050356), and the
University of Texas Health Science Center, San Antonio, TX, USA. We
sincerely regret that the work of many authors related to the topic
could not be cited here due to space limitations.
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NR 246
TC 10
Z9 11
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 FEB 24
PY 2014
VL 8
AR 58
DI 10.3389/fncel.2014.00058
PG 18
WC Neurosciences
SC Neurosciences & Neurology
GA AB5HS
UT WOS:000331820100003
PM 24605088
ER
PT J
AU Kong, SW
Sahin, M
Collins, CD
Wertz, MH
Campbell, MG
Leech, JD
Krueger, D
Bear, MF
Kunkel, LM
Kohane, IS
AF Kong, Sek Won
Sahin, Mustafa
Collins, Christin D.
Wertz, Mary H.
Campbell, Malcolm G.
Leech, Jarrett D.
Krueger, Dilja
Bear, Mark F.
Kunkel, Louis M.
Kohane, Isaac S.
TI Divergent dysregulation of gene expression in murine models of fragile X
syndrome and tuberous sclerosis
SO MOLECULAR AUTISM
LA English
DT Article
DE Fragile X syndrome; Tuberous sclerosis; Autism; Cerebellum; Blood; Gene
expression; Murine model
ID AUTISM SPECTRUM DISORDERS; MENTAL-RETARDATION; MOUSE MODEL; MICE;
MUTATIONS; BEHAVIOR; MTOR; TRANSLATION; INDIVIDUALS; PROFILES
AB Background: Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity.
Methods: To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis.
Results: Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/-) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues.
Conclusions: Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/- mice mirror some, but not all, of the perturbed molecular pathways in the brain.
C1 [Kong, Sek Won; Kohane, Isaac S.] Harvard Univ, Sch Med, Boston Childrens Hosp, Informat Program, Boston, MA 02115 USA.
[Sahin, Mustafa; Wertz, Mary H.; Leech, Jarrett D.] Harvard Univ, Sch Med, Boston Childrens Hosp, FM Kirby Neurobiol Ctr,Dept Neurol, Boston, MA USA.
[Collins, Christin D.; Kunkel, Louis M.] Harvard Univ, Sch Med, Howard Hughes Med Inst, Dept Genet,Boston Childrens Hosp, Boston, MA 02115 USA.
[Krueger, Dilja; Bear, Mark F.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Howard Hughes Med Inst, Cambridge, MA 02139 USA.
[Kong, Sek Won; Campbell, Malcolm G.; Kohane, Isaac S.] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA USA.
RP Kohane, IS (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, Informat Program, Boston, MA 02115 USA.
EM Isaac_kohane@harvard.edu
FU Simons Foundation [95117]; Nancy Lurie Marks Family Foundation; Autism
Speaks; Howard Hughes Medical Institute; Autism Consortium; NIMH
[R01MH085143, P50MH094267]; NICHD [P30HD018655]; Charles H. Hood
Foundation; NIH [R01NS58956]; John Merck Scholars Fund; Boston
Children's Hospital Translational Research Program, Manton Center for
Orphan Diseases and Boston
FX This work was supported by grants from Simons Foundation (95117, to L.
M. K. and I. S. K.), Nancy Lurie Marks Family Foundation (to L. M. K.
and I. S. K.), Autism Speaks (1968, to L. M. K.), Howard Hughes Medical
Institute (L. M. K.), Autism Consortium, NIMH (R01MH085143 to L. M. K.
and P50MH094267 to S. W. K. and I. S. K.), Molecular Genetics Core
laboratory supported by NICHD (P30HD018655, to L. M. K.), and Charles H.
Hood Foundation (S. W. K.). M. S. is supported by the NIH (R01NS58956),
the John Merck Scholars Fund, Nancy Lurie Marks Family Foundation,
Boston Children's Hospital Translational Research Program, Manton Center
for Orphan Diseases and Boston
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NR 54
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD FEB 24
PY 2014
VL 5
AR 16
DI 10.1186/2040-2392-5-16
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XE
UT WOS:000334717000001
PM 24564913
ER
PT J
AU St Pourcain, B
Skuse, DH
Mandy, WP
Wang, K
Hakonarson, H
Timpson, NJ
Evans, DM
Kemp, JP
Ring, SM
McArdle, WL
Golding, J
Smith, GD
AF St Pourcain, Beate
Skuse, David H.
Mandy, William P.
Wang, Kai
Hakonarson, Hakon
Timpson, Nicholas J.
Evans, David M.
Kemp, John P.
Ring, Susan M.
McArdle, Wendy L.
Golding, Jean
Smith, George Davey
TI Variability in the common genetic architecture of social-communication
spectrum phenotypes during childhood and adolescence
SO MOLECULAR AUTISM
LA English
DT Article
DE ALSPAC; ASD; Autism; GCTA heritability; GWAS Social communication
ID GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; AUTISTIC TRAITS;
GENERAL-POPULATION; COMPLEX TRAITS; DISORDERS; ETIOLOGY; LINKAGE;
GENOTYPES; VARIANTS
AB Background: Social-communication abilities are heritable traits, and their impairments overlap with the autism continuum. To characterise the genetic architecture of social-communication difficulties developmentally and identify genetic links with the autistic dimension, we conducted a genome-wide screen of social-communication problems at multiple time-points during childhood and adolescence.
Methods: Social-communication difficulties were ascertained at ages 8, 11, 14 and 17 years in a UK population-based birth cohort (Avon Longitudinal Study of Parents and Children; N <= 5,628) using mother-reported Social Communication Disorder Checklist scores. Genome-wide Complex Trait Analysis (GCTA) was conducted for all phenotypes. The time-points with the highest GCTA heritability were subsequently analysed for single SNP association genome-wide. Type I error in the presence of measurement relatedness and the likelihood of observing SNP signals near known autism susceptibility loci (co-location) were assessed via large-scale, genome-wide permutations. Association signals (P <= 10(-5)) were also followed up in Autism Genetic Resource Exchange pedigrees (N = 793) and the Autism Case Control cohort (N-cases/N-controls = 1,204/6,491).
Results: GCTA heritability was strongest in childhood (h(2)((8 years)) = 0.24) and especially in later adolescence (h(2) ((17 years)) = 0.45), with a marked drop during early tomiddle adolescence (h(2) ((11 years))= 0.16 and h(2)((14 years)) = 0.08). Genome-wide screens at ages 8 and 17 years identified for the latter time-point evidence for association at 3p22.2 near SCN11A (rs4453791, P = 9.3x10(-9); genome-wide empirical P = 0.011) and suggestive evidence at 20p12.3 at PLCB1 (rs3761168, P = 7.9x10(-8); genome-wide empirical P = 0.085). None of these signals contributed to risk for autism. However, the co-location of population-based signals and autism susceptibility loci harbouring rare mutations, such as PLCB1, is unlikely to be due to chance (genome-wide empirical Pco-location = 0.007).
Conclusions: Our findings suggest that measurable common genetic effects for social-communication
C1 [St Pourcain, Beate; Timpson, Nicholas J.; Evans, David M.; Kemp, John P.; Ring, Susan M.; Smith, George Davey] Univ Bristol, Integrat Epidemiol Unit, MRC, 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.
[Skuse, David H.] UCL, Inst Child Hlth, Behav Sci Unit, London WC1E 6BT, England.
[Mandy, William P.] UCL, Res Dept Clin Educ & Hlth Psychol, London WC1E 6BT, England.
[Wang, Kai; Hakonarson, Hakon] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA.
[Wang, Kai; Hakonarson, Hakon] Perelman Sch Med, Philadelphia, PA 19104 USA.
[Wang, Kai] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA.
[Wang, Kai] Univ So Calif, Keck Sch Med, Dept Psychiat, Los Angeles, CA 90089 USA.
[Evans, David M.; Kemp, John P.] Univ Queensland, Diamantina Inst, Translat Res Inst, Woolloongabba, Qld 4102, Australia.
[McArdle, Wendy L.; Golding, Jean] Univ Bristol, Sch Social & Community Med, Bristol BS8 2BN, Avon, England.
[Golding, Jean] Univ Bristol, Ctr Child & Adolescent Hlth, Bristol BS8 2BN, Avon, England.
RP St Pourcain, B (reprint author), Univ Bristol, Integrat Epidemiol Unit, MRC, Oakfield House, Bristol BS8 2BN, Avon, England.
EM Beate.StPourcain@bristol.ac.uk
RI Davey Smith, George/A-7407-2013
OI Davey Smith, George/0000-0002-1407-8314
FU UK Medical Research Council; Wellcome Trust [092731, WT083431MA];
University of Bristol; Autism Speaks [7132]; Medical Research Council
New Investigator Award [MRC G0800582]; National Institute of Mental
Health [1U24MH081810]
FX The UK Medical Research Council and the Wellcome Trust (092731) and the
University of Bristol provided core support for ALSPAC, and Autism
Speaks (7132) provided support for the analysis of autistic trait
related data. DME is supported by a Medical Research Council New
Investigator Award (MRC G0800582). JPK is funded by a Wellcome Trust
4-year PhD studentship (WT083431MA). We are extremely grateful to all
the families who took part in the ALSPAC study, the midwives for their
help in recruiting the families into the study and the whole ALSPAC
team, which includes interviewers, computer and laboratory technicians,
clerical workers, research scientists, volunteers, managers,
receptionists and nurses. We thank the Sample Logistics and Genotyping
Facilities at the Wellcome Trust Sanger Institute and also 23andMe for
generating the ALSPAC genome-wide data. We also thank the support team
of the Advanced Computing Research Centre at the University of Bristol
for their assistance with the permutation analysis using
high-performance computing machines. We gratefully acknowledge the
resources provided by the Autism Genetic Resource Exchange (AGRE)
Consortium and the participants of the AGRE and the ACC resources. The
Autism Genetic Resource Exchange is a program of Autism Speaks and is
supported, in part, by grant 1U24MH081810 from the National Institute of
Mental Health to Clara M. Lajonchere ( PI).
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NR 56
TC 6
Z9 6
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 FEB 24
PY 2014
VL 5
AR 18
DI 10.1186/2040-2392-5-18
PG 12
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XI
UT WOS:000334717400001
PM 24564958
ER
PT J
AU Uppal, N
Gianatiempo, I
Wicinski, B
Schmeidler, J
Heinsen, H
Schmitz, C
Buxbaum, JD
Hof, PR
AF Uppal, Neha
Gianatiempo, Isabella
Wicinski, Bridget
Schmeidler, James
Heinsen, Helmut
Schmitz, Christoph
Buxbaum, Joseph D.
Hof, Patrick R.
TI Neuropathology of the posteroinferior occipitotemporal gyrus in children
with autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Fusiform gyrus; Neuropathology; Posteroinferior occipitotemporal
gyrus; Stereology
ID FUSIFORM GYRUS; SECTIONS
AB Background: While most neuropathologic studies focus on regions involved in behavioral abnormalities in autism, it is also important to identify whether areas that appear functionally normal are devoid of pathologic alterations. In this study we analyzed the posteroinferior occipitotemporal gyrus, an extrastriate area not considered to be affected in autism. This area borders the fusiform gyrus, which is known to exhibit functional and cellular abnormalities in autism.
Findings: No studies have implicated posteroinferior occipitotemporal gyrus dysfunction in autism, leading us to hypothesize that neuropathology would not occur in this area. We indeed observed no significant differences in pyramidal neuron number or size in layers III, V, and VI in seven pairs of autism and controls.
Conclusions: These findings are consistent with the hypothesis that neuropathology is unique to areas involved in stereotypies and social and emotional behaviors, and support the specificity of the localization of pathology in the fusiform gyrus.
C1 [Uppal, Neha; Gianatiempo, Isabella; Wicinski, Bridget; Hof, Patrick R.] Icahn Sch Med Mt Sinai, Fishberg Dept Neurosci, New York, NY 10029 USA.
[Uppal, Neha; Gianatiempo, Isabella; 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.] 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.
[Schmeidler, James; Buxbaum, Joseph D.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA.
[Gianatiempo, Isabella] Fordham Univ, Dept Nat Sci, New York, NY 10023 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, 1 Gustave L Levy Pl,Box 1639, New York, NY 10029 USA.
EM patrick.hof@mssm.edu
FU Seaver Foundation; Autism Speaks; James S McDonnell Foundation; Simons
Foundation
FX This study was supported by the Seaver Foundation (NU, JDB), Autism
Speaks (CS, PRH), the James S McDonnell Foundation (PRH), and the Simons
Foundation (PRH, JDB). We thank Dr. Jane Pickett and Dr. Jerzy Wegiel
for securing the precious materials used in this study. Most of all, we
are deeply indebted to the patients' families, who have made this study
possible. Written informed consent was obtained from the patients and
their relatives for publication of this manuscript and accompanying
images. In compliance with Autism Speaks policies, all data generated by
this study will be available on the Autism Speaks portal.
CR BRODMANN K, 1909, VERGLEICHENDE VERGLE
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NR 17
TC 4
Z9 4
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 FEB 24
PY 2014
VL 5
AR 17
DI 10.1186/2040-2392-5-17
PG 8
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KU
UT WOS:000334965500001
PM 24564936
ER
PT J
AU Hernan, AE
Alexander, A
Lenck-Santini, PP
Scott, RC
Holmes, GL
AF Hernan, Amanda E.
Alexander, Abigail
Lenck-Santini, Pierre-Pascal
Scott, Rod C.
Holmes, Gregory L.
TI Attention Deficit Associated with Early Life Interictal Spikes in a Rat
Model Is Improved with ACTH
SO PLOS ONE
LA English
DT Article
ID CORTICOTROPIN-RELEASING HORMONE; INFANTILE SPASMS; BEHAVIOR; AMYGDALA;
EPILEPSY; CHILDREN; THERAPY
AB Children with epilepsy often present with pervasive cognitive and behavioral comorbidities including working memory impairments, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder. These non-seizure characteristics are severely detrimental to overall quality of life. Some of these children, particularly those with epilepsies classified as Landau-Kleffner Syndrome or continuous spike and wave during sleep, have infrequent seizure activity but frequent focal epileptiform activity. This frequent epileptiform activity is thought to be detrimental to cognitive development; however, it is also possible that these IIS events initiate pathophysiological pathways in the developing brain that may be independently associated with cognitive deficits. These hypotheses are difficult to address due to the previous lack of an appropriate animal model. To this end, we have recently developed a rat model to test the role of frequent focal epileptiform activity in the prefrontal cortex. Using microinjections of a GABA(A) antagonist (bicuculline methiodine) delivered multiple times per day from postnatal day (p) 21 to p25, we showed that rat pups experiencing frequent, focal, recurrent epileptiform activity in the form of interictal spikes during neurodevelopment have significant long-term deficits in attention and sociability that persist into adulthood. To determine if treatment with ACTH, a drug widely used to treat early-life seizures, altered outcome we administered ACTH once per day subcutaneously during the time of the induced interictal spike activity. We show a modest amelioration of the attention deficit seen in animals with a history of early life interictal spikes with ACTH, in the absence of alteration of interictal spike activity. These results suggest that pharmacological intervention that is not targeted to the interictal spike activity is worthy of future study as it may be beneficial for preventing or ameliorating adverse cognitive outcomes.
C1 [Hernan, Amanda E.; Alexander, Abigail] Geisel Sch Med Dartmouth, Dept Neurol, Hanover, NH 03755 USA.
[Scott, Rod C.] UCL, Inst Child Hlth, London, England.
[Hernan, Amanda E.; Lenck-Santini, Pierre-Pascal; Scott, Rod C.; Holmes, Gregory L.] Univ Vermont, Coll Med, Dept Neurol Sci, Burlington, VT USA.
RP Hernan, AE (reprint author), Geisel Sch Med Dartmouth, Dept Neurol, Hanover, NH 03755 USA.
EM Amanda.Hernan@uvm.edu
FU Questcor Pharmaceuticals through an Independent Investigator Study
grant; Emmory R. Shapses Research Fund; Michael J. Pietroniro Fund
[R01NS075249, R01NS076763]; Great Ormond Street Children's Charity;
[1R01NS073083]
FX Funding and study drug were provided by Questcor Pharmaceuticals through
an Independent Investigator Study grant awarded to AEH and GLH. Questcor
did not dictate or control study design, experiments or techniques
described, data analyses, or manuscript preparation. Questcor
Pharmaceuticals was informed prior to submission of this work for
publication. This work is funded by 1R01NS073083 (awarded to GLH),
Emmory R. Shapses Research Fund, and Michael J. Pietroniro Fund (GLH),
R01NS075249 (RCS) and R01NS076763 (PPLS). RCS is funded by Great Ormond
Street Children's Charity. 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 23
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 FEB 24
PY 2014
VL 9
IS 2
AR e89812
DI 10.1371/journal.pone.0089812
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AB6EP
UT WOS:000331880700095
PM 24587054
ER
PT J
AU Skefos, J
Cummings, C
Enzer, K
Holiday, J
Weed, K
Levy, E
Yuce, T
Kemper, T
Bauman, M
AF Skefos, Jerry
Cummings, Christopher
Enzer, Katelyn
Holiday, Jarrod
Weed, Katrina
Levy, Ezra
Yuce, Tarik
Kemper, Thomas
Bauman, Margaret
TI Regional Alterations in Purkinje Cell Density in Patients with Autism
SO PLOS ONE
LA English
DT Article
ID HUMAN CEREBELLUM; ALZHEIMERS-DISEASE; MENTAL-RETARDATION; VESTIBULAR
NUCLEI; NEURONAL DENSITY; WORKING-MEMORY; LOBULE-VII; PROJECTIONS;
ATROPHY; BRAIN
AB Neuropathological studies, using a variety of techniques, have reported a decrease in Purkinje cell (PC) density in the cerebellum in autism. We have used a systematic sampling technique that significantly reduces experimenter bias and variance to estimate PC densities in the postmortem brains of eight clinically well-documented individuals with autism, and eight age-and gender-matched controls. Four cerebellar regions were analyzed: a sensorimotor area comprised of hemispheric lobules IV-VI, crus I & II of the posterior lobe, and lobule X of the flocculonodular lobe. Overall PC density was thus estimated using data from all three cerebellar lobes and was found to be lower in the cases with autism as compared to controls, an effect that was most prominent in crus I and II (p < 0.05). Lobule X demonstrated a trend towards lower PC density in only the males with autism (p = 0.05). Brain weight, a correlate of tissue volume, was found to significantly contribute to the lower lobule X PC density observed in males with autism, but not to the finding of lower PC density in crus I & II. Therefore, lower crus I & II PC density in autism is more likely due to a lower number of PCs. The PC density in lobule X was found to correlate with the ADI-R measure of the patient's use of social eye contact (R 2 = 20.75, p = 0.012). These findings support the hypothesis that abnormal PC density may contribute to selected clinical features of the autism phenotype.
C1 [Skefos, Jerry; Cummings, Christopher; Enzer, Katelyn; Holiday, Jarrod; Weed, Katrina; Levy, Ezra; Yuce, Tarik; Kemper, Thomas; Bauman, Margaret] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA.
RP Skefos, J (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA.
EM skefos@gmail.com
FU Autism Research Foundation
FX This work was supported by The Autism Research Foundation
(http://www.theautismresearchfoundation.org) and Autism Speaks File
Number 1391 (http://www.autismspeaks.org). The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 80
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 FEB 24
PY 2014
VL 9
IS 2
AR e81255
DI 10.1371/journal.pone.0081255
PG 12
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AB6EP
UT WOS:000331880700001
PM 24586223
ER
PT J
AU Uvarov, P
Kajander, T
Airaksinen, MS
AF Uvarov, Pavel
Kajander, Tommi
Airaksinen, Matti S.
TI Origin and Loss of Nested LRRTM/alpha-Catenin Genes during Vertebrate
Evolution
SO PLOS ONE
LA English
DT Article
ID WHOLE-GENOME DUPLICATION; REPEAT TRANSMEMBRANE PROTEINS; EXCITATORY
SYNAPSE FORMATION; MAXIMUM-LIKELIHOOD; NEUREXIN; FAMILY; NEUROLIGINS;
PERFORMANCE; COMPLEXITY; INSIGHTS
AB Leucine-rich repeat transmembrane neuronal proteins (LRRTMs) form in mammals a family of four postsynaptic adhesion proteins, which have been shown to bind neurexins and heparan sulphate proteoglycan (HSPG) glypican on the presynaptic side. Mutations in the genes encoding LRRTMs and neurexins are implicated in human cognitive disorders such as schizophrenia and autism. Our analysis shows that in most jawed vertebrates, lrrtm1, lrrtm2, and lrrtm3 genes are nested on opposite strands of large conserved intron of a-catenin genes ctnna2, ctnna1, and ctnna3, respectively. No lrrtm genes could be found in tunicates or lancelets, while two lrrtm genes are found in the lamprey genome, one of which is adjacent to a single ctnna homolog. Based on similar highly positive net charge of lamprey LRRTMs and the HSPG-binding LRRTM3 and LRRTM4 proteins, we speculate that the ancestral LRRTM might have bound HSPG before acquiring neurexins as binding partners. Our model suggests that lrrtm gene translocated into the large ctnna intron in early vertebrates, and that subsequent duplications resulted in three lrrtm/ctnna gene pairs present in most jawed vertebrates. However, we detected three prominent exceptions: (1) the lrrtm3/ctnna3 gene structure is absent in the ray-finned fish genomes, (2) the genomes of clawed frogs contain ctnna1 but lack the corresponding nested (lrrtm2) gene, and (3) contain lrrtm3 gene in the syntenic position but lack the corresponding host (ctnna3) gene. We identified several other protein-coding nested gene structures of which either the host or the nested gene has presumably been lost in the frog or chicken lineages. Interestingly, majority of these nested genes comprise LRR domains.
C1 [Uvarov, Pavel; Airaksinen, Matti S.] Univ Helsinki, Inst Biomed, Helsinki, Finland.
[Kajander, Tommi] Univ Helsinki, Inst Biotechnol, Helsinki, Finland.
RP Airaksinen, MS (reprint author), Univ Helsinki, Inst Biomed, Helsinki, Finland.
EM matti.airaksinen@helsinki.fi
FU Academy of Finland; Sigrid Juselius Foundation
FX This study was supported by grants from the Academy of Finland and the
Sigrid Juselius 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 39
TC 1
Z9 1
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD FEB 24
PY 2014
VL 9
IS 2
AR e89910
DI 10.1371/journal.pone.0089910
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AB6EP
UT WOS:000331880700113
PM 24587117
ER
PT J
AU Barth, L
Suetterlin, R
Nenniger, M
Vogt, KE
AF Barth, Lydia
Suetterlin, Rosmarie
Nenniger, Markus
Vogt, Kaspar E.
TI Functional differentiation of stem cell-derived neurons from different
murine backgrounds
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE embryonic stem cells; neurons; electrophysiology; development; synaptic
transmission
AB Murine stem cell-derived neurons have been used to study a wide variety of neuropsychiatric diseases with a hereditary component, ranging from autism to Alzheimer's. While a significant amount of data on their molecular biology has been generated, there is little data on the physiology of these cultures. Different mouse strains show clear differences in behavioral and other neurobiologically relevant readouts. We have studied the physiology of early differentiation and network formation in neuronal cultures derived from three different mouse embryonic stem cell lines. We have found largely overlapping patterns with some significant differences in the timing of the functional milestones. Neurons from R1 showed the fastest development of intrinsic excitability, while E14Tg2a and J1 were slower. This was also reflected in an earlier appearance of synaptic activity in R1 cultures, while E14Tg2a and J1 were delayed by up to 2 days. In conclusion, stem cells from all backgrounds could be successfully differentiated into functioning neural networks with similar developmental patterns. Differences in the timing of specific milestones, suggest that control cell lines and time-points should be carefully chosen when investigating genetic alterations that lead to subtle deficits in neuronal function.
C1 [Barth, Lydia; Suetterlin, Rosmarie; Nenniger, Markus; Vogt, Kaspar E.] Univ Basel, Dept Neurobiol Pharmacol, Biozentrum, CH-4056 Basel, Switzerland.
RP Vogt, KE (reprint author), Univ Basel, Dept Neurobiol Pharmacol, Biozentrum, Klingelbergstr 50-70, CH-4056 Basel, Switzerland.
EM kaspar.vogt@unibas.ch
CR Bahrey HLP, 2003, J NEUROPHYSIOL, V89, P1761, DOI 10.1152/jn.00972.2002
Barkus Christopher, 2013, Curr Top Behav Neurosci, V14, P55, DOI 10.1007/7854_2012_224
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Stryke D, 2003, NUCLEIC ACIDS RES, V31, P278, DOI 10.1093/nar/gkg064
NR 11
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 FEB 20
PY 2014
VL 8
AR 49
DI 10.3389/fncel.2014.00049
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AB5GU
UT WOS:000331817700002
PM 24600351
ER
PT J
AU Cohen, IL
Gardner, JM
Karmel, BZ
Kim, SY
AF Cohen, Ira L.
Gardner, Judith M.
Karmel, Bernard Z.
Kim, Soh-Yule
TI Rating scale measures are associated with Noldus EthoVision-XT video
tracking of behaviors of children on the autism spectrum
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorders; Automated tracking; Behavioral assessment;
Rating scales; Thigmotaxis; Treatment measures
ID ANXIETY; INVENTORY; CHECKLIST; VALIDITY; DISORDER; MICE
AB Background: Children with Autism Spectrum Disorder (ASD) show unusual social behaviors and repetitive behaviors. Some of these behaviors, e. g., time spent in an area or turning rate/direction, can be automatically tracked. Automated tracking has several advantages over subjective ratings including reliability, amount of information provided, and consistency across laboratories, and is potentially of importance for diagnosis, animal models and objective assessment of treatment efficacy. However, its validity for ASD has not been examined. In this exploratory study, we examined associations between rating scale data with automated tracking of children's movements using the Noldus EthoVision XT system; i.e., tracking not involving a human observer. Based on our observations and previous research, we predicted that time spent in the periphery of the room would be associated with autism severity and that rate and direction of turning would be associated with stereotypies.
Methods: Children with and without ASD were observed in a free-play situation for 3 min before and 3 min after Autism Diagnostic Observation Scale - Generic (ADOS-G) testing. The Noldus system provided measures of the rate and direction of turning, latency to approach and time spend near the periphery or the parent.
Results: Ratings of the severity of maladaptive social behaviors, stereotypies, autism severity, and arousal problems were positively correlated with increases in percent time spent in the periphery in the total sample and in the ASD subset. Adaptive social communication skills decreased with increases in the percentage of time spent in the periphery and increases in the latency to approach the parent in the ASD group. The rate and direction of turning was linked with stereotypies only in the group without ASD (the faster the rate of a turn to the left, the worse the rating). In the ASD group, there was a shift from a neutral turning bias prior to the ADOS assessment to a strong left turn bias after the ADOS assessment. In the entire sample, this left turn bias was associated with measures of autism severity.
Conclusion: Results suggest that automated tracking yields valid and unbiased information for assessing children with autism. Turning bias is an interesting and unexplored measure related to autism.
C1 [Cohen, Ira L.; Kim, Soh-Yule] New York State Inst Basic Res Dev Disabil, Dept Psychol, Staten Isl, NY 10314 USA.
[Gardner, Judith M.; Karmel, Bernard Z.] New York State Inst Basic Res Dev Disabil, Dept Infant Dev, Staten Isl, NY 10314 USA.
RP Cohen, IL (reprint author), New York State Inst Basic Res Dev Disabil, Dept Psychol, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM ira.cohen@opwdd.ny.gov
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NR 25
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 FEB 18
PY 2014
VL 5
AR 15
DI 10.1186/2040-2392-5-15
PG 16
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KS
UT WOS:000334965300001
PM 24548743
ER
PT J
AU Durdiakova, J
Warrier, V
Banerjee-Basu, S
Baron-Cohen, S
Chakrabarti, B
AF Durdiakova, Jaroslava
Warrier, Varun
Banerjee-Basu, Sharmila
Baron-Cohen, Simon
Chakrabarti, Bhismadev
TI STX1A and Asperger syndrome: a replication study
SO MOLECULAR AUTISM
LA English
DT Article
DE Asperger syndrome; Serotonergic system; Single nucleotide polymorphism;
STX1A
ID SINGLE-NUCLEOTIDE POLYMORPHISMS; FUNCTIONING AUTISM; ASSOCIATION;
VARIANTS; SYSTEM; AQ
AB Background: Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism.
Methods: In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry.
Results: rs4717806 (P = 0.00334) and rs941298 (P = 0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium.
Conclusions: The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated.
C1 [Durdiakova, Jaroslava; 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 CPFT, CLASS Clin, Cambridge CB21 5EF, England.
[Chakrabarti, Bhismadev] Univ Reading, Sch Psychol & Clin Language Sci, Ctr Integrat Neurosci & Neurodynam, Reading RG6 6AL, Berks, England.
[Banerjee-Basu, Sharmila] Mindspec Inc, Fairfax, VA 22031 USA.
RP Baron-Cohen, S (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, 18b Trumpington Rd, Cambridge CB2 8AH, England.
EM sb205@cam.ac.uk; b.chakrabarti@reading.ac.uk
FU Target Autism Genome; Autism Research Trust; MRC UK; Max Planck
Institute for Psycholinguistics, Nijmegen
FX This study was funded by grants to SBC by Target Autism Genome, the
Autism Research Trust, the MRC UK, and the Max Planck Institute for
Psycholinguistics, Nijmegen. We are grateful to Jonathan Breidbord,
Allen Chan, Agnese Di Napoli, Laura Murphy, and Simon Fisher for help at
various stages of the project.
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NR 22
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 FEB 18
PY 2014
VL 5
AR 14
DI 10.1186/2040-2392-5-14
PG 4
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4XA
UT WOS:000334716600001
PM 24548729
ER
PT J
AU Bouvet, L
Donnadieu, S
Valdois, S
Caron, C
Dawson, M
Mottron, L
AF Bouvet, Lucie
Donnadieu, Sophie
Valdois, Sylviane
Caron, Chantal
Dawson, Michelle
Mottron, Laurent
TI Veridical mapping in savant abilities, absolute pitch, and synesthesia:
an autism case study
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE autism; synesthesia; savant abilities; cognition; veridical mapping
ID SPECTRUM DISORDERS; ASPERGER-SYNDROME; MEMORY; SYNAESTHESIA; PERCEPTION;
CHILDREN; COLORS; CLASSIFICATION; CONNECTIVITY; HYPERLEXIA
AB An enhanced role and autonomy of perception are prominent in autism. Furthermore, savant abilities, absolute pitch, and synesthesia are all more commonly found in autistic individuals than in the typical population. The mechanism of veridical mapping has been proposed to account for how enhanced perception in autism leads to the high prevalence of these three phenomena and their structural similarity. Veridical mapping entails functional rededication of perceptual brain regions to higher order cognitive operations, allowing the enhanced detection and memorization of isomorphisms between perceptual and non-perceptual structures across multiple scales. In this paper, we present FC, an autistic individual who possesses several savant abilities in addition to both absolute pitch and synesthesia-like associations. The co-occurrence in FC of abilities, some of them rare, which share the same structure, as well as FC's own accounts of their development, together suggest the importance of veridical mapping in the atypical range and nature of abilities displayed by autistic people.
C1 [Bouvet, Lucie; Donnadieu, Sophie; Valdois, Sylviane] CNRS UMR 5105, Lab Psychol & Neurocognit, Grenoble, France.
[Bouvet, Lucie] Univ Lille 3, Lille, France.
[Donnadieu, Sophie] Univ Savoie, Chambery, France.
[Valdois, Sylviane] CNRS, Paris, France.
[Caron, Chantal; Dawson, Michelle; Mottron, Laurent] Univ Montreal, Hop Riviere Prairies, Ctr Excellence Troubles Envahissants Dev, Montreal, PQ, Canada.
RP Bouvet, L (reprint author), Univ Lille 3, UFR Psychol, F-59653 Villeneuve Dascq, France.
EM lucie.bouvet@gmail.com
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NR 64
TC 3
Z9 3
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD FEB 18
PY 2014
VL 5
AR 106
DI 10.3389/fpsyg.2014.00106
PG 10
WC Psychology, Multidisciplinary
SC Psychology
GA CF2YQ
UT WOS:000352414500001
PM 24600416
ER
PT J
AU Werling, DM
Lowe, JK
Luo, R
Cantor, RM
Geschwind, DH
AF Werling, Donna M.
Lowe, Jennifer K.
Luo, Rui
Cantor, Rita M.
Geschwind, Daniel H.
TI Replication of linkage at chromosome 20p13 and identification of
suggestive sex-differential risk loci for autism spectrum disorder
SO MOLECULAR AUTISM
LA English
DT Article
DE Male brain; Sex differences; Intermediate phenotype; Linkage analysis;
Association; AGRE
ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; COMMON GENETIC-VARIANTS;
GENOME-WIDE; SUSCEPTIBILITY LOCI; PHYSICAL MAP; ASSOCIATION; POPULATION;
REVEALS; SCREEN
AB Background: Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE.
Methods: From a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds >= 2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions.
Results: We observed an independent replication of previously observed linkage at chromosome 20p13 (P < 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions.
Conclusions: With few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk.
C1 [Werling, Donna M.] Univ Calif Los Angeles, Interdept PhD Program Neurosci, Brain Res Inst, Los Angeles, CA 90095 USA.
[Lowe, Jennifer K.; Luo, Rui; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Neurogenet Program, Los Angeles, CA 90095 USA.
[Lowe, Jennifer K.; Luo, Rui; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA.
[Lowe, Jennifer K.; Geschwind, Daniel H.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Semel Inst, Los Angeles, CA 90095 USA.
[Lowe, Jennifer K.; Cantor, Rita M.; Geschwind, Daniel H.] Univ Calif Los Angeles, Semel Inst, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA.
[Luo, Rui; Cantor, Rita M.; Geschwind, Daniel H.] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.
RP Geschwind, DH (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Neurogenet Program, Los Angeles, CA 90095 USA.
EM dhg@mednet.ucla.edu
FU NIMH [1U24MH081810, F31MH093086]; Autism Speaks, fellowship [7436]; ACE
Network grant [5R01 R01MH081754, 3P50 HD055784]
FX We thank the patients and families whose participation makes this work
possible, as well as Clara M Lajonchere and Ryan Butler from AGRE and
Joe DeYoung from the University of California, Los Angeles,
Neurosciences Genomics Core. Thanks also to Lauren Lawrence and Kun Gao
for technical assistance. AGRE is a program of Autism Speaks and is
supported by grant NIMH 1U24MH081810 to Clara M Lajonchere. DMW was
supported by NIMH F31MH093086. RL was supported by Autism Speaks,
fellowship #7436. This work was supported by ACE Network grant 5R01
R01MH081754 and ACE Center grant 3P50 HD055784 to DHG.
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TC 4
Z9 4
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 FEB 17
PY 2014
VL 5
AR 13
DI 10.1186/2040-2392-5-13
PG 16
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4WU
UT WOS:000334716000001
PM 24533643
ER
PT J
AU Frenkel-Toledo, S
Bentin, S
Perry, A
Liebermann, DG
Soroker, N
AF Frenkel-Toledo, Silvi
Bentin, Shlomo
Perry, Anat
Liebermann, Dario G.
Soroker, Nachum
TI Mirror-neuron system recruitment by action observation: Effects of focal
brain damage on mu suppression
SO NEUROIMAGE
LA English
DT Article
DE EEG; Mu suppression; Mirror-neurons; Action observation; Stroke
ID AUTISM SPECTRUM DISORDERS; EVENT-RELATED DESYNCHRONIZATION; SENSORIMOTOR
EEG RHYTHMS; INFERIOR FRONTAL GYRUS; MOTOR DEFICITS;
FUNCTIONAL-SIGNIFICANCE; SELECTIVE ATTENTION; CLINICAL-RELEVANCE; SOCIAL
COGNITION; PREMOTOR CORTEX
AB Mu suppression is the attenuation of EEG power in the alpha frequency range (8-12 Hz), recorded over the sensorimotor cortex during execution and observation of motor actions. Based on this dual characteristic mu suppression is thought to signalize activation of a human analogue of the mirror neuron system (MNS) found in macaque monkeys. However, much uncertainty remains concerning its specificity and full significance. To further explore the hypothesized relationship between mu suppression and MNS activation, we investigated how it is affected by damage to cortical regions, including areas where the MNS is thought to reside. EEG was recorded in 33 first-event stroke patients during observation of video clips showing reaching and grasping hand movements. We examined the modulation of EEG oscillations at central and occipital sites, and analyzed separately the lower (8-10 Hz) and higher (10-12 Hz) segments of the alpha/mu range. Suppression was determined relative to observation of a non-biological movement Normalized lesion data were used to investigate how damage to regions of the fronto-parietal cortex affects the pattern of suppression. The magnitude of mu suppression during action observation was significantly reduced in the affected hemisphere compared to the unaffected hemisphere. Differences between the hemispheres were significant at central (sensorimotor) sites but not at occipital (visual) sites. Total hemispheric volume loss did not correlate with mu suppression. Suppression in the lower mu range in the unaffected hemisphere (C3) correlated with lesion extent within the right inferior parietal cortex. Our lesion study supports the role of mu suppression as a marker of MNS activation, confirming previous studies in normal subjects. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Frenkel-Toledo, Silvi; Soroker, Nachum] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel.
[Frenkel-Toledo, Silvi; Soroker, Nachum] Loewenstein Hosp & Rehabil Ctr, Dept Neurol Rehabil, IL-43100 Raanana, Israel.
[Bentin, Shlomo; Perry, Anat] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel.
[Bentin, Shlomo] Hebrew Univ Jerusalem, Dept Interdisciplinary Ctr Neural Computat, Jerusalem, Israel.
[Liebermann, Dario G.] Tel Aviv Univ, Sackler Fac Med, Stanley Steyer Sch Hlth Profess, Dept Phys Therapy, IL-69978 Tel Aviv, Israel.
RP Frenkel-Toledo, S (reprint author), Loewenstein Hosp & Rehabil Ctr, 278 Ahuza St, IL-43100 Raanana, Israel.
EM silvi197@bezegint.net
FU Legacy Foundation granted through the Loewenstein Rehabilitation
Hospital; Rivka Necht Foundation; Stanley Steyer School of Health
Professions of the Sackler Faculty of Medicine; Tel-Aviv University;
Israeli Ministry of Health [3-00000-7772]
FX This research project was carried out by the first author in partial
fulfillment of the requirements for a PhD degree at the Sack ler Faculty
of Medicine, Tel-Aviv University, under the supervision of Nachum
Soroker, Dario G. Liebermann and Shlomo Bentin. This research was
partially funded by the Legacy Foundation granted through the
Loewenstein Rehabilitation Hospital, the Rivka Necht Foundation, the
Stanley Steyer School of Health Professions of the Sack ler Faculty of
Medicine, Tel-Aviv University, and the Israeli Ministry of Health no.
3-00000-7772.
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NR 98
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 FEB 15
PY 2014
VL 87
BP 127
EP 137
DI 10.1016/j.neuroimage.2013.10.019
PG 11
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 301TC
UT WOS:000330554000013
PM 24140938
ER
PT J
AU Bauman, MD
Iosif, AM
Smith, SEP
Bregere, C
Amaral, DG
Patterson, PH
AF Bauman, Melissa D.
Iosif, Ana-Maria
Smith, Stephen E. P.
Bregere, Catherine
Amaral, David G.
Patterson, Paul H.
TI Activation of the Maternal Immune System During Pregnancy Alters
Behavioral Development of Rhesus Monkey Offspring
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Animal model; autism spectrum disorder; immune activation; macaque;
nonhuman primate; poly IC; schizophrenia
ID AUTISM SPECTRUM DISORDERS; MACAQUES MACACA-MULATTA; NEONATAL AMYGDALA
LESIONS; SOCIAL IMPULSIVITY; VERVET MONKEYS; NEURODEVELOPMENTAL
DISORDERS; PHARMACOLOGICAL CHANGES; ADULT SCHIZOPHRENIA; PRENATAL
INFECTION; NONHUMAN-PRIMATES
AB Background: Maternal infection during pregnancy is associated with an increased risk of schizophrenia and autism in the offspring. Supporting this correlation, experimentally activating the maternal immune system during pregnancy in rodents produces offspring with abnormal brain and behavioral development. We have developed a nonhuman primate model to bridge the gap between clinical populations and rodent models of maternal immune activation (MIA).
Methods: A modified form of the viral mimic, synthetic double-stranded RNA (polyinosinic: polycytidylic acid stabilized with poly-L-lysine) was delivered to two separate groups of pregnant rhesus monkeys to induce MIA: 1) late first trimester MIA (n = 6), and 2) late second trimester MIA (n = 7). Control animals (n = 11) received saline injections at the same first or second trimester time points or were untreated. Sickness behavior, temperature, and cytokine profiles of the pregnant monkeys confirmed a strong inflammatory response to MIA.
Results: Behavioral development of the offspring was studied for 24 months. Following weaning at 6 months of age, MIA offspring exhibited abnormal responses to separation from their mothers. As the animals matured, MIA offspring displayed increased repetitive behaviors and decreased affiliative vocalizations. When evaluated with unfamiliar conspecifics, first trimester MIA offspring deviated from species-typical macaque social behavior by inappropriately approaching and remaining in immediate proximity of an unfamiliar animal.
Conclusions: In this rhesus monkey model, MIA yields offspring with abnormal repetitive behaviors, communication, and social interactions. These results extended the findings in rodent MIA models to more human-like behaviors resembling those in both autism and schizophrenia.
C1 [Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, Dept Psychiat & Behav Sci, Davis, CA 95616 USA.
[Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, Calif Natl Primate Res Ctr, Davis, CA 95616 USA.
[Bauman, Melissa D.; Amaral, David G.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Iosif, Ana-Maria] Univ Calif Davis, Dept Publ Hlth Sci, Div Biostat, Sacramento, CA 95817 USA.
[Smith, Stephen E. P.; Bregere, Catherine; Patterson, Paul H.] CALTECH, Div Biol, Pasadena, CA 91125 USA.
[Amaral, David G.] Univ Calif Davis, Ctr Neurosci, Davis, CA 95616 USA.
RP Bauman, MD (reprint author), Univ Calif, MIND Inst, 2825 50th St 1416, Sacramento, CA 95817 USA.
EM mdbauman@ucdavis.edu
FU Simons Foundation [SFARI [9900060]]; California National Primate
Research Center [RR00169]; National Center for Research Resources
[R24RR019970, P51RR000169]; Office of Research Infrastructure
Programs/Office of the Director [R24OD010962, P51OD011157]
FX This work was supported by a grant from the Simons Foundation (SFARI
[9900060] to PHP). Additional support was provided by the base Grant
(RR00169) of the California National Primate Research
Center.Biobehavioral assessments at 3 months of age were carried out by
Dr. John Capitanio and funded in part by the National Center for
Research Resources (R24RR019970 to JPC and P51RR000169 to California
ational Primate Research Center) and are currently supported by the
Office of Research Infrastructure Programs/Office of the Director
(R24OD010962 and P51OD011157, respectively). SEPS is currently
affiliated with the Department of Immunology, Mayo Clinic, Rochester,
Minnesota. CB is currently affiliated with the Department of
Neurosurgery, University Hospital Basel, Basel, Switzerland.
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NR 120
TC 12
Z9 12
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 FEB 15
PY 2014
VL 75
IS 4
BP 332
EP 341
DI 10.1016/j.biopsych.2013.06.025
PG 10
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 288WP
UT WOS:000329643100013
PM 24011823
ER
PT J
AU Younkin, SG
Scharpf, RB
Schwender, H
Parker, MM
Scott, AF
Marazita, ML
Beaty, TH
Ruczinski, I
AF Younkin, Samuel G.
Scharpf, Robert B.
Schwender, Holger
Parker, Margaret M.
Scott, Alan F.
Marazita, Mary L.
Beaty, Terri H.
Ruczinski, Ingo
TI A genome-wide study of de novo deletions identifies a candidate locus
for non-syndromic isolated cleft lip/palate risk
SO BMC GENETICS
LA English
DT Article
DE Oral clefts; DNA copy numbers; de novo deletions; Case-parent trios
ID COPY NUMBER VARIATION; CIRCULAR BINARY SEGMENTATION; AUTISM SPECTRUM
DISORDER; HIDDEN MARKOV-MODELS; SNP GENOTYPING DATA; OROFACIAL CLEFTS;
WOUDE SYNDROME; 7P DELETION; PALATE; LIP
AB Background: Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios.
Results: We identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases.
Conclusions: This study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts.
C1 [Younkin, Samuel G.; Ruczinski, Ingo] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21218 USA.
[Scharpf, Robert B.] Johns Hopkins Sch Med, Dept Oncol, Baltimore, MD USA.
[Scott, Alan F.] Univ Dusseldorf, Math Inst, Dusseldorf, Germany.
[Scott, Alan F.] Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA.
[Marazita, Mary L.] Univ Pittsburgh, Sch Dent Med, Pittsburgh, PA USA.
RP Younkin, SG (reprint author), Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21218 USA.
EM syounkin@jhsph.edu
FU National Institute of Health [R03 DE021437, R01 DE016148]; Deutsche
Forschungsgemeinschaft [SCHW 1508/3-1]; National Institute for Dental
and Craniofacial Research [U01 DE018993, U01 DE018903]; National
Institute of Health, National Institute of Environmental Health Sciences
FX We thank the families who participated in the studies and gratefully
acknowledge the invaluable assistance of clinical, field, and laboratory
staff who contributed to this study, in particular the Center for Oral
Health Research in Appalachia. We also gratefully acknowledge the
financial support provided by the National Institute of Health grants
R03 DE021437 (SGY, IR), R01 DE016148 (MLM), and Deutsche
Forschungsgemeinschaft grant SCHW 1508/3-1 (HS). The consortium for GWAS
genotyping and analysis was supported by the National Institute for
Dental and Craniofacial Research through U01 DE018993 and U01 DE018903
(THB, MLM). The International Cleft Consortium involved many recruitment
sites directed by separate investigators: Jeffrey C. Murray (University
of Iowa), Rolf Terje Lie (University of Bergen), Allen Wilcox (NIEHS),
Kare Christensen (University of Southern Denmark), Yah-Huei Wu-Chou
(Chang Gang Memorial Hospital), Vincent Yeow (KK Women's & Children's
Hosptial), Xiaoqian Ye (Wuhan University), Bing Shi (Sichaun
University), Samuel Chong (National University of Singapore). Part of
the original recruitment of Norwegian case-parent trios was supported by
the Intramural Research Program of the National Institute of Health,
National Institute of Environmental Health Sciences.
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NR 57
TC 5
Z9 5
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2156
J9 BMC GENET
JI BMC Genet.
PD FEB 14
PY 2014
VL 15
AR 24
DI 10.1186/1471-2156-15-24
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AF3MR
UT WOS:000334616900002
PM 24528994
ER
PT J
AU Sasaki, T
Oga, T
Nakagaki, K
Sakai, K
Sumida, K
Hoshino, K
Miyawaki, I
Saito, K
Suto, F
Ichinohe, N
AF Sasaki, Tetsuya
Oga, Tomofumi
Nakagaki, Keiko
Sakai, Kazuhisa
Sumida, Kayo
Hoshino, Kohei
Miyawaki, Izuru
Saito, Koichi
Suto, Fumikazu
Ichinohe, Noritaka
TI Developmental expression profiles of axon guidance signaling and the
immune system in the marmoset cortex: Potential molecular mechanisms of
pruning of dendritic spines during primate synapse formation in late
infancy and prepuberty (I)
SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
LA English
DT Article
DE Primate; Overshoot-type synapse formation; Synaptic pruning; Axon
guidance signaling; Microglia; Complement
ID INFLAMMATORY FACTOR-I; III PYRAMIDAL CELLS; POSTNATAL-DEVELOPMENT;
NONHUMAN-PRIMATES; MESSENGER-RNA; GAMMA-RI; MICROGLIA; RECEPTORS;
GROWTH; DENSITY
AB The synapse number and the related dendritic spine number in the cerebral cortex of primates shows a rapid increase after birth. Depending on the brain region and species, the number of synapses reaches a peak before adulthood, and pruning takes place after this peak (overshoot-type synaptic formation). Human mental disorders, such as autism and schizophrenia, are hypothesized to be a result of either too weak or excessive pruning after the peak is reached. Thus, it is important to study the molecular mechanisms underlying overshoot-type synaptic formation, particularly the pruning phase.
To examine the molecular mechanisms, we used common marmosets (Callithrix jacchus). Microarray analysis of the marmoset cortex was performed in the ventrolateral prefrontal, inferior temporal, and primary visual cortices, where changes in the number of dendritic spines have been observed. The spine number of all the brain regions above showed a peak at 3 months (3 M) after birth and gradually decreased (e.g., at 6 M and in adults). In this study, we focused on genes that showed differential expression between ages of 3 M and 6 M and on the differences whose fold change (FC) was greater than 1.2. The selected genes were subjected to canonical pathway analysis, and in this study, we describe axon guidance signaling, which had high plausibility. The results showed a large number of genes belonging to subsystems within the axon guidance signaling pathway, macrophages/immune system, glutamate system, and others. We divided the data and discussion of these results into 2 papers, and this is the first paper, which deals with the axon guidance signaling and macrophage/immune system. Other systems will be described in the next paper. Many components of subsystems within the axon guidance signaling underwent changes in gene expression from 3 M to 6 M so that the synapse/dendritic spine number would decrease at 6 M. Thus, axon guidance signaling probably contributes to the decrease in synapse/dendritic spine number at 6 M, the phenomenon that fits the overshoot-type synaptic formation in primates.
Microglial activity (evaluated by quantifying AIF1 expression) and gene expression of molecules that modulate microglia, decreased at 6 M, just like the synapse/dendritic spine number. Thus, although microglial activity is believed to be related to phagocytosis of synapses/dendritic spines, microglial activity alone cannot explain how pruning was accelerated in the pruning phase. On the other hand, expression of molecules that tag synapses/dendritic spines as a target of phagocytosis by microglia (e.g., complement components) increased at 6 M, suggesting that these tagging proteins may be involved in the acceleration of pruning during the pruning phase. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Sasaki, Tetsuya; Oga, Tomofumi; Nakagaki, Keiko; Sakai, Kazuhisa; Suto, Fumikazu; Ichinohe, Noritaka] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Kodaira, Tokyo 1878502, Japan.
[Oga, Tomofumi] Osaka Univ, Grad Sch Frontier Biosci, Toyonaka, Osaka 5608531, Japan.
[Sumida, Kayo; Saito, Koichi] Sumitomo Chem Co Ltd, Environm Hlth Sci Lab, Osaka 5548558, Japan.
[Hoshino, Kohei; Miyawaki, Izuru] Dainippon Sumitomo Pharma Co Ltd, Predin Res Labs, Osaka 5540022, Japan.
RP Ichinohe, N (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878502, Japan.
EM nichino@ncnp.go.jp
FU NCNP [23-7]; MEXT, Japan
FX This work was supported by an Intramural Research Grant (Grant No. 23-7)
for Neurological and Psychiatric Disorders from NCNP, and a FIRST
Program, a Grant-in-Aid on Innovative Areas, "Shitsukan," "Glia
Assembly," and "Synapse Neurocircuit Pathology" of MEXT, Japan.
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NR 47
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 0006-291X
EI 1090-2104
J9 BIOCHEM BIOPH RES CO
JI Biochem. Biophys. Res. Commun.
PD FEB 14
PY 2014
VL 444
IS 3
BP 302
EP 306
DI 10.1016/j.bbrc.2014.01.024
PG 5
WC Biochemistry & Molecular Biology; Biophysics
SC Biochemistry & Molecular Biology; Biophysics
GA AB9TS
UT WOS:000332139200004
PM 24485715
ER
PT J
AU Gomez, C
Lizier, JT
Schaum, M
Wollstadt, P
Grutzner, C
Uhlhaas, P
Freitag, CM
Schlitt, S
Bolte, S
Hornero, R
Wibral, M
AF Gomez, Carlos
Lizier, Joseph T.
Schaum, Michael
Wollstadt, Patricia
Grutzner, Christine
Uhlhaas, Peter
Freitag, Christine M.
Schlitt, Sabine
Bolte, Sven
Hornero, Roberto
Wibral, Michael
TI Reduced predictable information in brain signals in autism spectrum
disorder
SO FRONTIERS IN NEUROINFORMATICS
LA English
DT Article
DE autism spectrum disorder; information theory; active information
storage; complex systems; magnetoencephalography; hippocampus;
predictive coding
ID GAMMA-BAND ACTIVITY; HIPPOCAMPUS; MAGNETOENCEPHALOGRAPHY; INDIVIDUALS;
CHILDREN; MEG; PERCEPTION; COMPLEXITY; AMYGDALA; MEMORY
AB Autism spectrum disorder (ASD) is a common developmental disorder characterized by communication difficulties and impaired social interaction. Recent results suggest altered brain dynamics as a potential cause of symptoms in ASD. Here, we aim to describe potential information-processing consequences of these alterations by measuring active information storage (AIS)-a key quantity in the theory of distributed computation in biological networks. AIS is defined as the mutual information between the past state of a process and its next measurement. It measures the amount of stored information that is used for computation of the next time step of a process. AIS is high for rich but predictable dynamics. We recorded magnetoencephalography (MEG) signals in 10 ASD patients and 14 matched control subjects in a visual task. After a beamformer source analysis, 12 task-relevant sources were obtained. For these sources, stationary baseline activity was analyzed using AIS. Our results showed a decrease of AIS values in the hippocampus of ASD patients in comparison with controls, meaning that brain signals in ASD were either less predictable, reduced in their dynamic richness or both. Our study suggests the usefulness of AIS to detect an abnormal type of dynamics in ASD. The observed changes in AIS are compatible with Bayesian theories of reduced use or precision of priors in ASD.
C1 [Gomez, Carlos; Hornero, Roberto] Univ Valladolid, Biomed Engn Grp, ETS Ingn Telecomun, Valladolid, Spain.
[Lizier, Joseph T.] Commonwealth Sci & Ind Res Org, Marsfield, NSW, Australia.
[Schaum, Michael; Wollstadt, Patricia; Wibral, Michael] Goethe Univ Frankfurt, Brain Imaging Ctr, MEG Unit, D-602528 Frankfurt, Germany.
[Grutzner, Christine] Max Planck Inst Brain Res, Dept Neurophysiol, Frankfurt, Germany.
[Uhlhaas, Peter] Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland.
[Freitag, Christine M.; Schlitt, Sabine; Bolte, Sven] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany.
RP Wibral, M (reprint author), Goethe Univ Frankfurt, Brain Imaging Ctr, MEG Unit, Heinrich Hoffmann Str 10, D-602528 Frankfurt, Germany.
EM wibral@em.uni-frankfurt.de
RI Lizier, Joseph/B-8093-2008; Gomez, Carlos/B-4659-2008; Hornero,
Roberto/B-5398-2008
OI Lizier, Joseph/0000-0002-9910-8972; Gomez, Carlos/0000-0002-9488-0605;
Hornero, Roberto/0000-0001-9915-2570
FU LOEWE Grant "Neuronale Koordination Forschungsschwerpunkt Frankfurt
(NeFF)"; Ministerio de Economia y Competitividad; FEDER [TEC2011-22987]
FX Michael Wibral was supported by LOEWE Grant "Neuronale Koordination
Forschungsschwerpunkt Frankfurt (NeFF)." Michael Wibral thanks the
Commonwealth Scientific and Industrial Research Organisation (CSIRO) for
supporting a visit which contributed to this work. Carlos Gomez received
a travel grant from LOEWE Grant "Neuronale Koordination
Forschungsschwerpunkt Frankfurt (NeFF)." Carlos Gomez and Roberto
Hornero were supported in part by the "Ministerio de Economia y
Competitividad" and FEDER under project TEC2011-22987.
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NR 93
TC 5
Z9 6
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5196
J9 FRONT NEUROINFORM
JI Front. Neuroinformatics
PD FEB 14
PY 2014
VL 8
AR 9
DI 10.3389/fninf.2014.00009
PG 12
WC Mathematical & Computational Biology; Neurosciences
SC Mathematical & Computational Biology; Neurosciences & Neurology
GA AZ3CL
UT WOS:000348105300001
PM 24592235
ER
PT J
AU Fromer, M
Pocklington, AJ
Kavanagh, DH
Williams, HJ
Dwyer, S
Gormley, P
Georgieva, L
Rees, E
Palta, P
Ruderfer, DM
Carrera, N
Humphreys, I
Johnson, JS
Roussos, P
Barker, DD
Banks, E
Milanova, V
Grant, SG
Hannon, E
Rose, SA
Chambert, K
Mahajan, M
Scolnick, EM
Moran, JL
Kirov, G
Palotie, A
McCarroll, SA
Holmans, P
Sklar, P
Owen, MJ
Purcell, SM
O'Donovan, MC
AF Fromer, Menachem
Pocklington, Andrew J.
Kavanagh, David H.
Williams, Hywel J.
Dwyer, Sarah
Gormley, Padhraig
Georgieva, Lyudmila
Rees, Elliott
Palta, Priit
Ruderfer, Douglas M.
Carrera, Noa
Humphreys, Isla
Johnson, Jessica S.
Roussos, Panos
Barker, Douglas D.
Banks, Eric
Milanova, Vihra
Grant, Seth G.
Hannon, Eilis
Rose, Samuel A.
Chambert, Kimberly
Mahajan, Milind
Scolnick, Edward M.
Moran, Jennifer L.
Kirov, George
Palotie, Aarno
McCarroll, Steven A.
Holmans, Peter
Sklar, Pamela
Owen, Michael J.
Purcell, Shaun M.
O'Donovan, Michael C.
TI De novo mutations in schizophrenia implicate synaptic networks
SO NATURE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; COPY-NUMBER VARIANTS; INTELLECTUAL
DISABILITY; DISEASE; GENE; PLASTICITY; MECHANISMS; COMPLEXITY; PATTERNS;
RATES
AB Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small de novo mutations, affecting one ora few nucleotides, are overrepresented among glutamatergic postsynaptic proteins comprising activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-D-aspartate receptor (NMDAR) complexes. Mutations are additionally enriched in proteins that interact with these complexes to modulate synaptic strength, namely proteins regulating actin filament dynamics and those whose messenger RNAs are targets of fragile X mental retardation protein (FMRP). Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways. Aligning our findings with a parallel case-control study, we demonstrate reproducible insights into aetiological mechanisms for schizophrenia and reveal pathophysiology shared with other neurodevelopmental disorders.
C1 [Fromer, Menachem; Ruderfer, Douglas M.; Johnson, Jessica S.; Roussos, Panos; Mahajan, Milind; Sklar, Pamela; Purcell, Shaun M.] Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY 10029 USA.
[Fromer, Menachem; Ruderfer, Douglas M.; Johnson, Jessica S.; Roussos, Panos; Mahajan, Milind; Sklar, Pamela; Purcell, Shaun M.] Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA.
[Fromer, Menachem; Barker, Douglas D.; Rose, Samuel A.; Chambert, Kimberly; Scolnick, Edward M.; Moran, Jennifer L.; McCarroll, Steven A.; Purcell, Shaun M.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.
[Pocklington, Andrew J.; Kavanagh, David H.; Williams, Hywel J.; Dwyer, Sarah; Georgieva, Lyudmila; Rees, Elliott; Ruderfer, Douglas M.; Carrera, Noa; Humphreys, Isla; Hannon, Eilis; Kirov, George; Holmans, Peter; Owen, Michael J.; O'Donovan, Michael C.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
[Gormley, Padhraig; Palta, Priit; Palotie, Aarno] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England.
[Gormley, Padhraig; Banks, Eric; Palotie, Aarno; McCarroll, Steven A.] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.
[Palta, Priit] Univ Tartu, Inst Mol & Cell Biol, Dept Bioinformat, EE-51010 Tartu, Estonia.
[Palta, Priit; Palotie, Aarno] Univ Helsinki, Inst Mol Med Finland FIMM, FIN-00290 Helsinki, Finland.
[Milanova, Vihra] Med Univ, Dept Psychiat, Sofia 1431, Bulgaria.
[Grant, Seth G.] Univ Edinburgh, Ctr Neuroregenerat, Edinburgh EH16 4SB, Midlothian, Scotland.
[McCarroll, Steven A.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[Sklar, Pamela] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
[Purcell, Shaun M.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
RP Owen, MJ (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales.
EM owenmj@cardiff.ac.uk
RI Holmans, Peter/F-4518-2015
OI Holmans, Peter/0000-0003-0870-9412
FU Medical Research Council (MRC) Centre [G0800509, G0801418]; European
Community [HEALTH-F2-2010-241909]; NIMH [2 P50 MH066392-05A1]; Friedman
Brain Institute; Institute for Genomics and Multiscale Biology; National
Institutes of Health [R01HG005827, R01MH099126, R01MH071681]; Fidelity
Foundations; Sylvan Herman Foundation; Stanley Medical Research
Institute; Wellcome Trust [WT089062, WT098051]; European Commission
[261123]
FX Work in Cardiff was supported by Medical Research Council (MRC) Centre
(G0800509) and Program Grants (G0801418), the European Community's
Seventh Framework Programme (HEALTH-F2-2010-241909 (Project EU-GEI)),
and NIMH (2 P50 MH066392-05A1). Work at the Icahn School of Medicine at
Mount Sinai was supported by the Friedman Brain Institute, the Institute
for Genomics and Multiscale Biology (including computational resources
and staff expertise provided by the Department of Scientific Computing),
and National Institutes of Health grants R01HG005827 (S. M. P.),
R01MH099126 (S. M. P.), and R01MH071681 (P. S.). Work at the Broad
Institute was funded by Fidelity Foundations, the Sylvan Herman
Foundation, philanthropic gifts from K. and E. Dauten, and the Stanley
Medical Research Institute. Work at the Wellcome Trust Sanger Institute
was supported by The Wellcome Trust (grant numbers WT089062 and
WT098051) and also by the European Commission FP7 project gEUVADIS no.
261123 (P. P.). We would like to thank M. Daly, B. Neale and K. Samocha
for discussions and providing unpublished autism data. We would also
like to acknowledge M. DePristo, S. Gabriel, T. J. Fennel, K. Shakir, C.
Tolonen and H. Shah for their help in generating and processing the
various data sets.
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NR 43
TC 105
Z9 107
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD FEB 13
PY 2014
VL 506
IS 7487
BP 179
EP +
DI 10.1038/nature12929
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA5AK
UT WOS:000331107700029
PM 24463507
ER
PT J
AU Purcell, SM
Moran, JL
Fromer, M
Ruderfer, D
Solovieff, N
Roussos, P
O'Dushlaine, C
Chambert, K
Bergen, SE
Kahler, A
Duncan, L
Stahl, E
Genovese, G
Fernandez, E
Collins, MO
Komiyama, NH
Choudhary, JS
Magnusson, PKE
Banks, E
Shakir, K
Garimella, K
Fennell, T
DePristo, M
Grant, SGN
Haggarty, SJ
Gabriel, S
Scolnick, EM
Lander, ES
Hultman, CM
Sullivan, PF
McCarroll, SA
Sklar, P
AF Purcell, Shaun M.
Moran, Jennifer L.
Fromer, Menachem
Ruderfer, Douglas
Solovieff, Nadia
Roussos, Panos
O'Dushlaine, Colm
Chambert, Kimberly
Bergen, Sarah E.
Kahler, Anna
Duncan, Laramie
Stahl, Eli
Genovese, Giulio
Fernandez, Esperanza
Collins, Mark O.
Komiyama, Noboru H.
Choudhary, Jyoti S.
Magnusson, Patrik K. E.
Banks, Eric
Shakir, Khalid
Garimella, Kiran
Fennell, Tim
DePristo, Mark
Grant, Seth G. N.
Haggarty, Stephen J.
Gabriel, Stacey
Scolnick, Edward M.
Lander, Eric S.
Hultman, Christina M.
Sullivan, Patrick F.
McCarroll, Steven A.
Sklar, Pamela
TI A polygenic burden of rare disruptive mutations in schizophrenia
SO NATURE
LA English
DT Article
ID DE-NOVO MUTATIONS; INTELLECTUAL DISABILITY; MESSENGER-RNA; POSTSYNAPTIC
DENSITY-95; PSYCHIATRIC-DISORDERS; ASSOCIATION ANALYSIS; SEQUENCING
DATA; NMDA RECEPTOR; RISK LOCI; AUTISM
AB Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease.
C1 [Purcell, Shaun M.; Moran, Jennifer L.; Fromer, Menachem; O'Dushlaine, Colm; Chambert, Kimberly; Bergen, Sarah E.; Duncan, Laramie; Genovese, Giulio; Haggarty, Stephen J.; Scolnick, Edward M.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.
[Purcell, Shaun M.; Fromer, Menachem; Ruderfer, Douglas; Roussos, Panos; Stahl, Eli; Sklar, Pamela] Icahn Sch Med Mt Sinai, Div Psychiat Genom, Dept Psychiat, New York, NY 10029 USA.
[Purcell, Shaun M.; Fromer, Menachem; Ruderfer, Douglas; Roussos, Panos; Stahl, Eli; Sklar, Pamela] Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA.
[Purcell, Shaun M.; Fromer, Menachem; Solovieff, Nadia; Duncan, Laramie; Haggarty, Stephen J.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Purcell, Shaun M.; Duncan, Laramie; Banks, Eric; Shakir, Khalid; Garimella, Kiran; Fennell, Tim; DePristo, Mark; Gabriel, Stacey; Lander, Eric S.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Med & Populat Genet Program, Cambridge, MA 02142 USA.
[Bergen, Sarah E.; Kahler, Anna; Magnusson, Patrik K. E.; Hultman, Christina M.] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden.
[Fernandez, Esperanza] Katholieke Univ Leuven, Ctr Human Genet, B-3000 Louvain, Belgium.
[Fernandez, Esperanza] VIB Ctr Biol Dis, B-3000 Louvain, Belgium.
[Collins, Mark O.; Komiyama, Noboru H.; Choudhary, Jyoti S.] Wellcome Trust Sanger Inst, Prote Mass Spectrometry, Cambridge CB10 1SA, England.
[Grant, Seth G. N.] Univ Edinburgh, Ctr Clin Brain Sci, Genes Cognit Programme, Edinburgh EH16 4SB, Midlothian, Scotland.
[Grant, Seth G. N.] Univ Edinburgh, Ctr Neuroregenerat, Edinburgh EH16 4SB, Midlothian, Scotland.
[Haggarty, Stephen J.] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol, Boston, MA 02114 USA.
[Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
[Sullivan, Patrick F.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[McCarroll, Steven A.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA.
[Sklar, Pamela] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA.
RP Purcell, SM (reprint author), Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.
EM shaun@broadinstitute.org
RI Kahler, Anna/J-2874-2012
FU National Institutes of Health (NIH)/National Institute of Mental Health
(NIMH) ARRA Grand Opportunity grant [NIMH RC2 MH089905]; Sylvan Herman
Foundation; Stanley Center for Psychiatric Research; Stanley Medical
Research Institute; NIH/National Human Genome Research Institute (NHGRI)
[U54HG003067]; NIH/NIMH [R01 MH095088, R01 MH091115, R01 MH099126, R01
MH077139, R01 MH095034, T32 MH017119]; Tau Consortium; NIH/NHGRI [R01
HG005827]; Friedman Brain Institute at Mount Sinai School of Medicine;
Karolinska Institutet, Karolinska University Hospital; Swedish Research
Council; ALF from Swedish County Council; Soderstrom Konigska
Foundation; Netherlands Scientific Organization [NWO 645-000-003];
Wellcome Trust; Genes to Cognition Program; Medical Research Council;
European Union [241995, 242498, 242167]; Institute for Genomics and
Multiscale Biology
FX We are grateful for the participation of all subjects contributing to
this research, and to the collection team that worked to recruit them:
E. Flordal-Thelander, A.-B. Holmgren, M. Hallin, M. Lundin, A.-K.
Sundberg, C. Pettersson, R. Satgunanthan-Dawoud, S. Hassellund, M.
Radstrom, B. Ohlander, L. Nyren and I. Kizling. We acknowledge funding
support from National Institutes of Health (NIH)/National Institute of
Mental Health (NIMH) ARRA Grand Opportunity grant NIMH RC2 MH089905 (S.
M. P., P. S.), the Sylvan Herman Foundation, the Stanley Center for
Psychiatric Research, the Stanley Medical Research Institute,
NIH/National Human Genome Research Institute (NHGRI) grant U54HG003067
(E. S. L.), NIH/NIMH grant R01 MH095088 (S.J.H.), NIH/NIMH grant R01
MH091115 (S.J.H.), the Tau Consortium (S.J.H.), NIH/NIMH grant R01
MH099126 (S. M. P.), NIH/NHGRI grant R01 HG005827 (S. M. P.), NIH/NIMH
grant R01 MH077139 (P. F. S.), NIH/NIMH grant R01 MH095034 (P. S.),
NIH/NIMH grant T32 MH017119 (L. D.), the Friedman Brain Institute at
Mount Sinai School of Medicine, the Karolinska Institutet, Karolinska
University Hospital, the Swedish Research Council, an ALF grant from
Swedish County Council, the Soderstrom Konigska Foundation, the
Netherlands Scientific Organization (NWO 645-000-003), the Wellcome
Trust, Genes to Cognition Program, The Medical Research Council and
European Union projects GENCODYS no. 241995, EUROSPIN no. 242498 and
SYNSYS no. 242167 (E. F., M.O.C., N.H.K., J.S.C., S.G.N.G.). Work at the
Icahn School of Medicine at Mount Sinai was also supported by the
Institute for Genomics and Multiscale Biology (including computational
resources and staff expertise provided by the Department of Scientific
Computing). The funders had no role in study design, execution, analysis
or manuscript preparation.
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NR 49
TC 114
Z9 116
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD FEB 13
PY 2014
VL 506
IS 7487
BP 185
EP +
DI 10.1038/nature12975
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA5AK
UT WOS:000331107700030
PM 24463508
ER
PT J
AU Matsuyoshi, D
Kuraguchi, K
Tanaka, Y
Uchida, S
Ashida, H
Watanabe, K
AF Matsuyoshi, Daisuke
Kuraguchi, Kana
Tanaka, Yumiko
Uchida, Seina
Ashida, Hiroshi
Watanabe, Katsumi
TI Individual differences in autistic traits predict the perception of
direct gaze for males, but not for females
SO MOLECULAR AUTISM
LA English
DT Article
DE Direct gaze; Individual differences; Sex differences; Autistic traits;
Autism spectrum disorders (ASD)
ID RARE DE-NOVO; SPECTRUM DISORDERS
AB Despite the emphasis of autism spectrum disorders as a continuum of atypical social behaviors and the sexual heterogeneity of phenotypic manifestations, whether gaze processing constitutes an autistic endophenotype in both sexes remains unclear. Using the Autism-Spectrum Quotient and a psychophysical approach in a normal population (N = 128), here we demonstrated that individual differences in autistic traits predicted direct-gaze perception for males, but not for females. Our findings suggest that direct-gaze perception may not constitute an autistic endophenotype in both sexes, and highlight the importance of sex differences when considering relationships between autistic traits and behaviors.
C1 [Matsuyoshi, Daisuke; Watanabe, Katsumi] Univ Tokyo, Adv Sci & Technol Res Ctr, Meguro Ku, Tokyo 1538904, Japan.
[Kuraguchi, Kana; Ashida, Hiroshi] Kyoto Univ, Grad Sch Letters, Dept Psychol, Sakyo Ku, Kyoto 6068501, Japan.
[Tanaka, Yumiko; Uchida, Seina] Univ Tokyo, Coll Arts & Sci, Meguro Ku, Tokyo 1538902, Japan.
RP Matsuyoshi, D (reprint author), Univ Tokyo, Adv Sci & Technol Res Ctr, Meguro Ku, 4-6-1 Komaba, Tokyo 1538904, Japan.
EM matsuyoshi@fennel.rcast.u-tokyo.ac.jp
FU Japan Society for the Promotion of Science [23700315, 22220003,
24300279]; CREST; Japan Science and Technology Agency
FX This study was supported by grants from the Japan Society for the
Promotion of Science # 23700315 to DM, # 22220003 to HA, # 24300279 to
KW; and CREST, Japan Science and Technology Agency to KW. The use of the
face image in Figure 1 is acknowledged by the photographed model with a
written informed consent.
CR Baron-Cohen S, 2001, J AUTISM DEV DISORD, V31, P5, DOI 10.1023/A:1005653411471
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NR 15
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 FEB 12
PY 2014
VL 5
AR 12
DI 10.1186/2040-2392-5-12
PG 3
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4WM
UT WOS:000334715200001
PM 24521089
ER
PT J
AU Schwarzkopf, DS
Anderson, EJ
de Haas, B
White, SJ
Rees, G
AF Schwarzkopf, D. Samuel
Anderson, Elaine J.
de Haas, Benjamin
White, Sarah J.
Rees, Geraint
TI Larger Extrastriate Population Receptive Fields in Autism Spectrum
Disorders
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE autism; perceptual function; population receptive fields; retinotopy;
tuning; vision
ID HUMAN VISUAL-CORTEX; SURFACE-BASED ANALYSIS; CORTICAL MAGNIFICATION;
FUNCTIONING AUTISM; BINOCULAR-RIVALRY; BRAIN-DEVELOPMENT;
SIMPLEX-METHOD; FMRI; MAPS; SIZE
AB Previous behavioral research suggests enhanced local visual processing in individuals with autism spectrum disorders (ASDs). Here we used functional MRI and population receptive field (pRF) analysis to test whether the response selectivity of human visual cortex is atypical in individuals with high-functioning ASDs compared with neurotypical, demographically matched controls. For each voxel, we fitted a pRF model to fMRI signals measured while participants viewed flickering bar stimuli traversing the visual field. In most extra-striate regions, perifoveal pRFs were larger in the ASD group than in controls. We observed no differences in V1 or V3A. Differences in the hemodynamic response function, eye movements, or increased measurement noise could not account for these results; individuals with ASDs showed stronger, more reliable responses to visual stimulation. Interestingly, pRF sizes also correlated with individual differences in autistic traits but there were no correlations with behavioral measures of visual processing. Our findings thus suggest that visual cortex in ASDs is not characterized by sharper spatial selectivity. Instead, we speculate that visual cortical function in ASDs may be characterized by extrastriate cortical hyperexcitability or differential attentional deployment.
C1 [Schwarzkopf, D. Samuel; Anderson, Elaine J.; de Haas, Benjamin; White, Sarah J.; Rees, Geraint] UCL, Wellcome Trust Ctr Neuroimaging, London EC1V 9EL, England.
[Schwarzkopf, D. Samuel; Anderson, Elaine J.; de Haas, Benjamin; Rees, Geraint] UCL, Inst Cognit Neurosci, London EC1V 9EL, England.
[Schwarzkopf, D. Samuel] UCL, London EC1V 9EL, England.
[Anderson, Elaine J.] UCL, Inst Ophthalmol, London EC1V 9EL, England.
RP Schwarzkopf, DS (reprint author), UCL, 26 Bedford Way, London WC1H 0AP, England.
EM s.schwarzkopf@ucl.ac.uk
RI White, Sarah/C-4084-2008; Rees, Geraint/C-1493-2008
OI White, Sarah/0000-0001-6946-9155; Rees, Geraint/0000-0002-9623-7007
FU Wellcome Trust [091593/Z/10/Z/]; European Research Council
FX This work was supported by the Wellcome Trust (D.S.S., E.J.A., B.d.H.,
G.R.) and the European Research Council (D.S.S.). The Wellcome Trust
Centre for Neuroimaging is supported by core funding from the Wellcome
Trust 091593/Z/10/Z/. We thank J.J.S. Finnemann for help with data
collection and C.E. Robertson for discussions.
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NR 48
TC 9
Z9 9
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 FEB 12
PY 2014
VL 34
IS 7
BP 2713
EP 2724
DI 10.1523/JNEUROSCI.4416-13.2014
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AB2HV
UT WOS:000331614700032
PM 24523560
ER
PT J
AU Bruining, H
Eijkemans, MJC
Kas, MJH
Curran, SR
Vorstman, JAS
Bolton, PF
AF Bruining, Hilgo
Eijkemans, Marinus J. C.
Kas, Martien J. H.
Curran, Sarah R.
Vorstman, Jacob A. S.
Bolton, Patrick F.
TI Behavioral signatures related to genetic disorders in autism
SO MOLECULAR AUTISM
LA English
DT Article
ID FRAGILE-X-SYNDROME; TUBEROUS SCLEROSIS COMPLEX; PRADER-WILLI-SYNDROME;
COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SYNAPTIC PATHOPHYSIOLOGY;
DIAGNOSTIC INTERVIEW; SOCIAL-INTERACTION; DE-NOVO; CHILDREN
AB Background: Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations.
Methods: We tested this assumption by analyzing the Autism Diagnostic Interview-Revised (ADI-R) symptom profiles in samples comprising six genetic disorders that carry an increased risk for ASD 22q11.2 deletion, Down's syndrome, Prader-Willi, supernumerary marker chromosome 15, tuberous sclerosis complex and Klinefelter syndrome; total n = 322 cases, groups ranging in sample sizes from 21 to 90 cases). We mined the data to test the existence and specificity of ADI-R profiles using a multiclass extension of support vector machine SVM) learning. We subsequently applied the SVM genetic disorder algorithm on idiopathic ASD profiles from the Autism Genetics Resource Exchange AGRE).
Results: Genetic disorders were associated with behavioral specificity, indicated by the accuracy and certainty of SVM predictions; one-by-one genetic disorder stratifications were highly accurate leading to 63% accuracy of correct genotype prediction when all six genetic disorder groups were analyzed simultaneously. Application of the SVM algorithm to AGRE cases indicated that the algorithm could detect similarity of genetic behavioral signatures in idiopathic ASD subjects. Also, affected sib pairs in the AGRE were behaviorally more similar when they had been allocated to the same genetic disorder group.
Conclusions: Our findings provide evidence for genotype-phenotype correlations in relation to autistic symptomatology. SVM algorithms may be used to stratify idiopathic cases of ASD according to behavioral signature patterns associated with genetic disorders. Together, the results suggest a new approach for disentangling the heterogeneity of ASD.
C1 [Bruining, Hilgo; Vorstman, Jacob A. S.] Univ Med Ctr, Dept Psychiat, Brain Ctr Rudolf Magnus, NL-3508 GA Utrecht, Netherlands.
[Bruining, Hilgo; Eijkemans, Marinus J. C.; Kas, Martien J. H.] Brain Ctr Rudolf Magnus, Dept Translat Neurosci, Utrecht, Netherlands.
[Eijkemans, Marinus J. C.] Univ Med Ctr, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands.
[Curran, Sarah R.; Bolton, Patrick F.] Kings Coll London, Inst Psychiat, London WC2R 2LS, England.
RP Bruining, H (reprint author), Univ Med Ctr, Dept Psychiat, Brain Ctr Rudolf Magnus, Postbus 85500,Heidelberglaan 100, NL-3508 GA Utrecht, Netherlands.
EM h.bruining@umcutrecht.nl
RI Bolton, Patrick/E-8501-2010
OI Bolton, Patrick/0000-0002-5270-6262
FU National Institute of Health Research Senior Investigator Award and the
Biomedical Research Centre in Mental Health at the South London &
Maudsley Hospital; UK Medical Research Council, The UK Tuberous
Sclerosis Association and the US Charity Autism Speaks; Dutch Brain
Foundation [(F2010(1)-20)]
FX Patrick Bolton is supported by a National Institute of Health Research
Senior Investigator Award and the Biomedical Research Centre in Mental
Health at the South London & Maudsley Hospital. The Uk component of the
research was supported by grants to Patrick Bolton from the UK Medical
Research Council, The UK Tuberous Sclerosis Association and the US
Charity Autism Speaks. JV is supported by a 2010 Fellowship from the
Dutch Brain Foundation (F2010(1)-20).
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NR 50
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 FEB 11
PY 2014
VL 5
DI 10.1186/2040-2392-5-11
PG 12
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4WE
UT WOS:000334714300001
PM 24517317
ER
PT J
AU Kim, YR
Kim, JH
Kim, MJ
Treasure, J
AF Kim, Youl-Ri
Kim, Jeong-Hyun
Kim, Mi Jeong
Treasure, Janet
TI Differential Methylation of the Oxytocin Receptor Gene in Patients with
Anorexia Nervosa: A Pilot Study
SO PLOS ONE
LA English
DT Article
ID ATRIAL-NATRIURETIC-PEPTIDE; EPIGENETIC DOWN-REGULATION; AUTISM SPECTRUM
DISORDERS; MESSENGER-RNA EXPRESSION; EATING-DISORDERS; DNA METHYLATION;
CHILDHOOD ABUSE; PROMOTER; FEMALES; EMPATHY
AB Background and Aim: Recent studies in patients with anorexia nervosa suggest that oxytocin may be involved in the pathophysiology of anorexia nervosa. We examined whether there was evidence of variation in methylation status of the oxytocin receptor (OXTR) gene in patients with anorexia nervosa that might account for these findings.
Methods: We analyzed the methylation status of the CpG sites in a region from the exon 1 to the MT2 regions of the OXTR gene in buccal cells from 15 patients and 36 healthy women using bisulfite sequencing. We further examined whether methylation status was associated with markers of illness severity or form.
Results: We identified six CpG sites with significant differences in average methylation levels between the patient and control groups. Among the six differentially methylated CpG sites, five showed higher than average methylation levels in patients than those in the control group (64.9-88.8% vs. 6.6-45.0%). The methylation levels of these five CpG sites were negatively associated with body mass index (BMI). BMI, eating disorders psychopathology, and anxiety were identified in a regression analysis as factors affecting the methylation levels of these CpG sites with more variation accounted for by BMI.
Conclusions: Epigenetic misregulation of the OXTR gene may be implicated in anorexia nervosa, which may either be a mechanism linking environmental adversity to risk or may be a secondary consequence of the illness.
C1 [Kim, Youl-Ri] Inje Univ, Seoul Paik Hosp, Dept Psychiat, Seoul, South Korea.
[Kim, Jeong-Hyun; Kim, Mi Jeong] Inje Univ, Indang Inst Mol Biol, Seoul, South Korea.
[Kim, Jeong-Hyun] Inje Univ, Sch Biol Sci, Gimhae, South Korea.
[Treasure, Janet] Kings Coll London, Sect Eating Disorders, Dept Psychol Med, Inst Psychiat, London, England.
RP Kim, YR (reprint author), Inje Univ, Seoul Paik Hosp, Dept Psychiat, Seoul, South Korea.
EM youlri.kim@paik.ac.kr
FU National Research Foundation of Korea [2011-0030914]; Swiss Anorexia
Nervosa Foundation; National Institute for Health Research (NIHR);
Mental Health Biomedical Research Centre at South London; Maudsley NHS
Foundation Trust and King's College London
FX This study was supported under the framework of the International
Cooperation Program managed by the National Research Foundation of Korea
(2011-0030914) to YK. The Swiss Anorexia Nervosa Foundation supported
the work of JT in part. The funders had no role in study design, data
collection and analysis, decision to publish, or preparation of the
manuscript. JT received salary support from the National Institute for
Health Research (NIHR), Mental Health Biomedical Research Centre at
South London and Maudsley NHS Foundation Trust and King's College
London. The views expressed are those of the author(s) and not
necessarily those of the NHS, the NIHR or the Department of Health.
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NR 62
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 FEB 11
PY 2014
VL 9
IS 2
AR e88673
DI 10.1371/journal.pone.0088673
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA7DT
UT WOS:000331258100077
PM 24523928
ER
PT J
AU Pandey, AK
Lu, L
Wang, XS
Homayouni, R
Williams, RW
AF Pandey, Ashutosh K.
Lu, Lu
Wang, Xusheng
Homayouni, Ramin
Williams, Robert W.
TI Functionally Enigmatic Genes: A Case Study of the Brain Ignorome
SO PLOS ONE
LA English
DT Article
ID QUANTITATIVE TRAIT LOCI; CANDIDATE GENE; INBRED MICE; EXPRESSION;
PROTEIN; AUTISM; IDENTIFICATION; PLEIOTROPHIN; PUBLICATIONS; DUPLICATION
AB What proportion of genes with intense and selective expression in specific tissues, cells, or systems are still almost completely uncharacterized with respect to biological function? In what ways do these functionally enigmatic genes differ from well-studied genes? To address these two questions, we devised a computational approach that defines so-called ignoromes. As proof of principle, we extracted and analyzed a large subset of genes with intense and selective expression in brain. We find that publications associated with this set are highly skewed-the top 5% of genes absorb 70% of the relevant literature. In contrast, approximately 20% of genes have essentially no neuroscience literature. Analysis of the ignorome over the past decade demonstrates that it is stubbornly persistent, and the rapid expansion of the neuroscience literature has not had the expected effect on numbers of these genes. Surprisingly, ignorome genes do not differ from well-studied genes in terms of connectivity in coexpression networks. Nor do they differ with respect to numbers of orthologs, paralogs, or protein domains. The major distinguishing characteristic between these sets of genes is date of discovery, early discovery being associated with greater research momentum-a genomic bandwagon effect. Finally we ask to what extent massive genomic, imaging, and phenotype data sets can be used to provide high-throughput functional annotation for an entire ignorome. In a majority of cases we have been able to extract and add significant information for these neglected genes. In several cases-ELMOD1, TMEM88B, and DZANK1-we have exploited sequence polymorphisms, large phenome data sets, and reverse genetic methods to evaluate the function of ignorome genes.
C1 [Pandey, Ashutosh K.; Lu, Lu; Wang, Xusheng; Williams, Robert W.] Univ Tennessee, Ctr Hlth Sci, UT Ctr Integrat & Translat Genom, Memphis, TN 38163 USA.
[Pandey, Ashutosh K.; Lu, Lu; Wang, Xusheng; Williams, Robert W.] Univ Tennessee, Ctr Hlth Sci, Dept Anat & Neurobiol, Memphis, TN 38163 USA.
[Wang, Xusheng] St Jude Childrens Res Hosp, Memphis, TN 38105 USA.
[Homayouni, Ramin] Univ Memphis, Dept Biol Sci, Bioinformat Program, Memphis, TN 38152 USA.
RP Pandey, AK (reprint author), Univ Tennessee, Ctr Hlth Sci, UT Ctr Integrat & Translat Genom, Memphis, TN 38163 USA.
EM apandey1@uthsc.edu
FU Integrative Neuroscience Initiative on Alcoholism [U01AA016662,
U01AA13499, U24AA13513, U01AA014425]; University of Memphis
Bioinformatics Program; Assisi Foundation of Memphis
FX This work was supported by Integrative Neuroscience Initiative on
Alcoholism grants U01AA016662, U01AA13499, U24AA13513, U01AA014425
(RWW), University of Memphis Bioinformatics Program and the Assisi
Foundation of Memphis (RH). 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 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 FEB 11
PY 2014
VL 9
IS 2
AR e88889
DI 10.1371/journal.pone.0088889
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA7DT
UT WOS:000331258100094
PM 24523945
ER
PT J
AU Tsuang, D
Esterberg, M
Braff, D
Calkins, M
Cadenhead, K
Dobie, D
Freedman, R
Green, MF
Greenwood, T
Gur, R
Gur, R
Horan, W
Lazzeroni, LC
Light, GA
Millard, SP
Olincy, A
Nuechterlein, K
Seidman, L
Siever, L
Silverman, J
Stone, W
Sprock, J
Sugar, C
Swerdlow, N
Tsuang, M
Turetsky, B
Radant, A
AF Tsuang, Debby
Esterberg, Michelle
Braff, David
Calkins, Monica
Cadenhead, Kristin
Dobie, Dorcas
Freedman, Robert
Green, Michael F.
Greenwood, Tiffany
Gur, Raquel
Gur, Ruben
Horan, William
Lazzeroni, Laura C.
Light, Gregory A.
Millard, Steven P.
Olincy, Ann
Nuechterlein, Keith
Seidman, Larry
Siever, Larry
Silverman, Jeremy
Stone, William
Sprock, Joyce
Sugar, Catherine
Swerdlow, Neal
Tsuang, Ming
Turetsky, Bruce
Radant, Allen
TI Is There an Association between Advanced Paternal Age and Endophenotype
Deficit Levels in Schizophrenia?
SO PLOS ONE
LA English
DT Article
ID PARENTAL AGE; NEUROCOGNITIVE ENDOPHENOTYPES; ANTISACCADE PERFORMANCE;
RISK; CONSORTIUM; GENETICS; DISORDER; AUTISM; MULTISITE; RELATIVES
AB The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.
C1 [Tsuang, Debby] VA Puget Sound Hlth Care Syst, VISN Geriatr Res Educ & Clin Ctr 20, Seattle, WA 98108 USA.
[Tsuang, Debby; Esterberg, Michelle; Dobie, Dorcas; Radant, Allen] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Braff, David; Light, Gregory A.] VA San Diego Healthcare Syst, VISN Mental Illness Res Educ & Clin Ctr 22, San Diego, CA USA.
[Braff, David; Cadenhead, Kristin; Greenwood, Tiffany; Light, Gregory A.; Sprock, Joyce; Swerdlow, Neal; Tsuang, Ming] Univ Calif San Diego, Dept Psychiat, San Diego, CA 92103 USA.
[Calkins, Monica; Gur, Raquel; Gur, Ruben; Turetsky, Bruce] Univ Penn, Dept Psychiat, Philadelphia, PA 19104 USA.
[Dobie, Dorcas; Millard, Steven P.] VA Puget Sound Hlth Care Syst, VISN Mental Illness Res Educ & Clin Ctr 20, Seattle, WA USA.
[Freedman, Robert; Olincy, Ann] Univ Colorado, Hlth Sci Ctr, Dept Psychiat, Denver, CO 80262 USA.
[Green, Michael F.; Horan, William; Nuechterlein, Keith; Sugar, Catherine] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Geffen Sch Med, Los Angeles, CA 90024 USA.
[Green, Michael F.; Horan, William; Sugar, Catherine] VA Greater Los Angeles Hlth Care Syst, Los Angeles, CA USA.
[Lazzeroni, Laura C.] Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA.
[Seidman, Larry; Stone, William] Harvard Univ, Beth Israel Deaconess Med Ctr, Massachusetts Mental Hlth Ctr Publ, Psychiat Div,Med Sch,Dept Psychiat, Boston, MA 02215 USA.
[Siever, Larry; Silverman, Jeremy] Mt Sinai Sch Med, Dept Psychiat, New York, NY USA.
[Siever, Larry; Silverman, Jeremy] James J Peters VA Med Ctr, VISN Mental Illness Res Educ & Clin Ctr 3, New York, NY USA.
RP Tsuang, D (reprint author), VA Puget Sound Hlth Care Syst, VISN Geriatr Res Educ & Clin Ctr 20, Seattle, WA 98108 USA.
EM dwt1@uw.edu
FU Office of Research and Development Medical Research Service, Department
of Veterans Affairs; NIMH [R01 MH65571, R01 MH042228, R01 MH65588, R01
MH65562, R01 MH65707, R01 MH65554, R01 MH65578, R01 MH086135, R01
MH65558]
FX This material is based upon work supported (or supported in part) by the
Office of Research and Development Medical Research Service, Department
of Veterans Affairs. This study was supported by NIMH grants R01
MH65571, R01 MH042228, R01 MH65588, R01 MH65562, R01 MH65707, R01
MH65554, R01 MH65578, R01 MH086135, and R01 MH65558. 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 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 FEB 11
PY 2014
VL 9
IS 2
AR e88379
DI 10.1371/journal.pone.0088379
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA7DT
UT WOS:000331258100037
PM 24523888
ER
PT J
AU Robichaux, MA
Chenaux, G
Ho, HYH
Soskis, MJ
Dravis, C
Kwan, KY
Sestan, N
Greenberg, ME
Henkemeyer, M
Cowan, CW
AF Robichaux, Michael A.
Chenaux, George
Ho, Hsin-Yi Henry
Soskis, Michael J.
Dravis, Christopher
Kwan, Kenneth Y.
Sestan, Nenad
Greenberg, Michael Eldon
Henkemeyer, Mark
Cowan, Christopher W.
TI EphB receptor forward signaling regulates area-specific reciprocal
thalamic and cortical axon pathfinding
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID THALAMOCORTICAL CONNECTIONS; MAMMALIAN FOREBRAIN; NEURONAL MIGRATION;
OPTIC CHIASM; GUIDANCE; PROJECTIONS; MOUSE; AUTISM; CORTEX; MECHANISMS
AB In early brain development, ascending thalamocortical axons (TCAs) navigate through the ventral telencephalon (VTel) to reach their target regions in the young cerebral cortex. Descending, deep-layer cortical axons subsequently target appropriate thalamic and subcortical target regions. However, precisely how and when corticothalamic axons (CTAs) identify their appropriate, reciprocal thalamic targets remains unclear. We show here that EphB1 and EphB2 receptors control proper navigation of a subset of TCA and CTA projections through the VTel. We show in vivo that EphB receptor forward signaling and the ephrinB1 ligand are required during the early navigation of L1-CAM(+) thalamic fibers in the VTel, and that the misguided thalamic fibers in EphB1/2 KO mice appear to interact with cortical subregion-specific axon populations during reciprocal cortical axon guidance. As such, our findings suggest that descending cortical axons identify specific TCA subpopulations in the dorsal VTel to coordinate reciprocal cortical-thalamic connectivity in the early developing brain.
C1 [Robichaux, Michael A.; Cowan, Christopher W.] Harvard Univ, McLean Hosp, Sch Med, Dept Psychiat, Belmont, MA 02478 USA.
[Robichaux, Michael A.; Chenaux, George; Cowan, Christopher W.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
[Chenaux, George; Dravis, Christopher; Henkemeyer, Mark] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA.
[Ho, Hsin-Yi Henry; Soskis, Michael J.; Greenberg, Michael Eldon] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA.
[Kwan, Kenneth Y.; Sestan, Nenad] Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA.
[Kwan, Kenneth Y.; Sestan, Nenad] Yale Univ, Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA.
RP Greenberg, ME (reprint author), Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA.
EM meg@hms.harvard.edu; cwcowan@mclean.harvard.edu
FU Simons Foundation Autism Research Initiative [240332]; National
Institutes of Health [R01 EY01820, R01 MH66332, R01 NS045500, RO1
NS054273]; National Institute on Drug Abuse Training [T32 DA07290]
FX The authors wish to thank Yuhong Guo and Kevin Kelly for technical
assistance. This project was supported in part by Simons Foundation
Autism Research Initiative Grant 240332 (to C.W.C.); by National
Institutes of Health Grants R01 EY018207 (to C.W.C.), R01 MH66332 (to
M.H.), R01 NS045500 (to M.E.G.), and RO1 NS054273 (to N.S..); and by
National Institute on Drug Abuse Training Grant T32 DA07290 (to M.A.R.).
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NR 50
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 FEB 11
PY 2014
VL 111
IS 6
BP 2188
EP 2193
DI 10.1073/pnas.1324215111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA3NO
UT WOS:000330999600038
PM 24453220
ER
PT J
AU Chiocchetti, AG
Haslinger, D
Boesch, M
Karl, T
Wiemann, S
Freitag, CM
Poustka, F
Scheibe, B
Bauer, JW
Hintner, H
Breitenbach, M
Kellermann, J
Lottspeich, F
Klauck, SM
Breitenbach-Koller, L
AF Chiocchetti, Andreas G.
Haslinger, Denise
Boesch, Maximilian
Karl, Thomas
Wiemann, Stefan
Freitag, Christine M.
Poustka, Fritz
Scheibe, Burghardt
Bauer, Johann W.
Hintner, Helmut
Breitenbach, Michael
Kellermann, Josef
Lottspeich, Friedrich
Klauck, Sabine M.
Breitenbach-Koller, Lore
TI Protein signatures of oxidative stress response in a patient specific
cell line model for autism
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; RPL10; Translation; Protein expression;
Redox-sensitive protein signature; Oxidative stress response; Energy
metabolism
ID COPY-NUMBER VARIATION; SPECTRUM DISORDERS; SACCHAROMYCES-CEREVISIAE;
MITOCHONDRIAL DYSFUNCTION; BIOLOGICAL NETWORKS; EXPRESSION ANALYSES;
CYTOSCAPE PLUGIN; GENE-FUNCTION; MUTATION; DAMAGE
AB Background: Known genetic variants can account for 10% to 20% of all cases with autism spectrum disorders (ASD). Overlapping cellular pathomechanisms common to neurons of the central nervous system (CNS) and in tissues of peripheral organs, such as immune dysregulation, oxidative stress and dysfunctions in mitochondrial and protein synthesis metabolism, were suggested to support the wide spectrum of ASD on unifying disease phenotype. Here, we studied in patient-derived lymphoblastoid cell lines (LCLs) how an ASD-specific mutation in ribosomal protein RPL10 (RPL10[H213Q]) generates a distinct protein signature. We compared the RPL10[ H213Q] expression pattern to expression patterns derived from unrelated ASD patients without RPL10[ H213Q] mutation. In addition, a yeast rpl10 deficiency model served in a proof-of-principle study to test for alterations in protein patterns in response to oxidative stress.
Methods: Protein extracts of LCLs from patients, relatives and controls, as well as diploid yeast cells hemizygous for rpl10, were subjected to two-dimensional gel electrophoresis and differentially regulated spots were identified by mass spectrometry. Subsequently, Gene Ontology database (GO)-term enrichment and network analysis was performed to map the identified proteins into cellular pathways.
Results: The protein signature generated by RPL10[H213Q] is a functionally related subset of the ASD-specific protein signature, sharing redox-sensitive elements in energy-, protein- and redox- metabolism. In yeast, rpl10 deficiency generates a specific protein signature, harboring components of pathways identified in both the RPL10 [ H213Q] subjects' and the ASD patients' set. Importantly, the rpl10 deficiency signature is a subset of the signature resulting from response of wild-type yeast to oxidative stress.
Conclusions: Redox-sensitive protein signatures mapping into cellular pathways with pathophysiology in ASD have been identified in both LCLs carrying the ASD-specific mutation RPL10[H213Q] and LCLs from ASD patients without this mutation. At pathway levels, this redox- sensitive protein signature has also been identified in a yeast rpl10 deficiency and an oxidative stress model. These observations point to a common molecular pathomechanism in ASD, characterized in our study by dysregulation of redox balance. Importantly, this can be triggered by the known ASD-RPL10[H213Q] mutation or by yet unknown mutations of the ASD cohort that act upstream of RPL10 in differential expression of redox-sensitive proteins.
C1 [Chiocchetti, Andreas G.; Haslinger, Denise; Wiemann, Stefan; Klauck, Sabine M.] Deutsch Krebsforschungszentrum DKFZ, Div Mol Genome Anal, D-69120 Heidelberg, Germany.
[Chiocchetti, Andreas G.; Haslinger, Denise; Boesch, Maximilian; Karl, Thomas; Scheibe, Burghardt; Breitenbach, Michael; Breitenbach-Koller, Lore] Salzburg Univ, Dept Cell Biol, A-5020 Salzburg, Austria.
[Chiocchetti, Andreas G.; Haslinger, Denise; Freitag, Christine M.; Poustka, Fritz] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
[Bauer, Johann W.; Hintner, Helmut] Gen Hosp Salzburg PMU, Dept Dermatol, A-5020 Salzburg, Austria.
[Kellermann, Josef; Lottspeich, Friedrich] Max Planck Inst Biochem, D-82152 Martinsried, Germany.
RP Klauck, SM (reprint author), Deutsch Krebsforschungszentrum DKFZ, Div Mol Genome Anal, Neuenheimer Feld 580, D-69120 Heidelberg, Germany.
EM s.klauck@dkfz.de; hannelore.koller@sbg.ac.at
RI Wiemann, Stefan/E-4424-2013
OI Wiemann, Stefan/0000-0003-4683-3174
FU Deutsche Forschungsgemeinschaft [Po 255/17-4]; DEBRA Austria Projekt
[P_147200_09]
FX We thank all the individuals and their families who have participated in
research for their cooperation and the professionals for collecting
data. We thank C. Wirth and S. Karolus for excellent technical
assistance. This study was partially funded by grant Po 255/17-4 of the
Deutsche Forschungsgemeinschaft to Fritz Poustka and grant DEBRA Austria
Projekt P_147200_09 to Johann W. Bauer and Lore Breitenbach-Koller.
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NR 73
TC 2
Z9 3
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 FEB 10
PY 2014
VL 5
AR 10
DI 10.1186/2040-2392-5-10
PG 15
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4VZ
UT WOS:000334713800001
PM 24512814
ER
PT J
AU Trotman, M
Barad, Z
Guevremont, D
Williams, J
Leitch, B
AF Trotman, M.
Barad, Z.
Guevremont, D.
Williams, J.
Leitch, B.
TI Changes in the GRIP 1&2 scaffolding proteins in the cerebellum of the
ataxic stargazer mouse
SO BRAIN RESEARCH
LA English
DT Article
DE GRIP1&2; PICK1; Cerebellum; Stargazer; Immunogold; Autism
ID AUTISM SPECTRUM DISORDERS; AMPA RECEPTOR FUNCTION; HIPPOCAMPAL SYNAPTIC
PLASTICITY; DOMAIN-CONTAINING PROTEIN; LONG-TERM POTENTIATION;
REGULATORY PROTEINS; BINDING-PROTEIN; SELECTIVE LOSS; GRANULE CELLS;
EXPRESSION
AB Glutamate receptor-interacting proteins (GRIP1&2) and protein-interacting with C kinase-1 (PICK1) are synaptic scaffold proteins associated with the stabilization and recycling of synaptic GluA2-, 3- and 4c-containing alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). PICK1-mediated phosphoryladon of GluA serine880 uncouples GRIP18z2 leading to AMPAR endocytosis, important in mediating forms of synaptic plasticity underlying learning and memory. Ataxic and epileptic stargazer mice possess a mutation in the CACNG2 gene encoding the transmembrane AMPAR-regulatory protein (TARP)-gamma 2 (stargazin). TARPs are AMPAR-auxiliary subunits required for efficient AMPAR trafficking to synapses. Stargazin is abundantly expressed in the cerebellum and its loss results in severe deficits in AMPAR trafficking to cerebellar synapses, particularly at granule cell (GC) synapses, leading to the ataxic phenotype of stargazers. However, how the stargazin mutation impacts on the expression of other AMPAR-interacting scaffold proteins is unknown. This study shows a significant increase in GRIP1&2, but not PICK1, levels in whole tissue and synapse-enriched extracts from stargazer cerebella. Post-embedding immunogold-cytochemistry electron microscopy showed GRIP1&2 levels were unchanged at mossy fiber-GC synapses in stargazers, which are silent due to virtual total absence of synaptic and extrasynaptic GluA2/3-AMPARs. These results indicate that loss of synaptic AMPARs at this excitatory synapse does not affect GRIP1&2 expression within the postsynaptic region of mossy fiber-GC synapses. Interestingly, increased GRIP and reduced GluA2-AMPARexpression also occur in cerebella of autistic patients. Further research establishing the role of elevated cerebellar GRIP1&2 in stargazers may help identify common cellular mechanisms in the comorbid disorders ataxia, epilepsy and autism leading to more effective treatment strategies. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Trotman, M.; Barad, Z.; Guevremont, D.; Williams, J.; Leitch, B.] Univ Otago, Dept Anat, Brain Hlth Res Ctr, Otago Sch Med Sci, Dunedin, New Zealand.
RP Leitch, B (reprint author), Univ Otago, Dept Anat, Brain Hlth Res Ctr, Otago Sch Med Sci, Dunedin, New Zealand.
EM beulah.leitch@anatomy.otago.ac.nz
RI Leitch, Beulah/E-5269-2015
OI Leitch, Beulah/0000-0003-3520-3134
FU University of Otago Research Grant (UORG); Deans Bequest Fund;
University of Otago publishing bursary
FX The authors are grateful to the staff of the Otago Centre for Electron
Microscopy (OCEM) for their expertise and to members of the Leitch
laboratory for their assistance. This research was supported by grants
from the University of Otago Research Grant (UORG) and Deans Bequest
Fund, awarded to B.L. Manuscript preparation was supported by a
University of Otago publishing bursary awarded to M.T.
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NR 54
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 FEB 10
PY 2014
VL 1546
BP 53
EP 62
DI 10.1016/j.brainres.2013.12.027
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AB4TF
UT WOS:000331782100007
PM 24380676
ER
PT J
AU Choi, J
Ababon, MR
Soliman, M
Lin, Y
Brzustowicz, LM
Matteson, PG
Millonig, JH
AF Choi, Jiyeon
Ababon, Myka R.
Soliman, Mai
Lin, Yong
Brzustowicz, Linda M.
Matteson, Paul G.
Millonig, James H.
TI Autism Associated Gene, ENGRAILED2, and Flanking Gene Levels Are Altered
in Post-Mortem Cerebellum
SO PLOS ONE
LA English
DT Article
ID HOMEOBOX-TRANSCRIPTION-FACTOR; SPECTRUM-DISORDER; SONIC HEDGEHOG;
NORADRENERGIC NEURONS; SEROTONERGIC NEURONS; INFANTILE-AUTISM; BLOOD
SEROTONIN; PURKINJE-CELLS; RETINAL AXONS; EXPRESSION
AB Background: Previous genetic studies demonstrated association between the transcription factor ENGRAILED2 (EN2) and Autism Spectrum Disorder (ASD). Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. EN2 is flanked by 5 genes, SEROTONIN RECEPTOR5A (HTR5A), INSULIN INDUCED GENE1 (INSIG1), CANOPY1 HOMOLOG (CNPY1), RNA BINDING MOTIF PROTEIN33 (RBM33), and SONIC HEDGEHOG (SHH). These flanking genes are co-expressed with EN2 during development and coordinate similar developmental processes. To investigate if mRNA levels for these genes are altered in individuals with autism, post-mortem analysis was performed.
Methods: qRT-PCR quantified mRNA levels for EN2 and the 5 flanking genes in 78 post-mortem cerebellar samples. mRNA levels were correlated with both affection status and rs1861972-rs1861973 genotype. Molecular analysis investigated whether EN2 regulates flanking gene expression.
Results: EN2 levels are increased in affected A-C/G-T individuals (p =.0077). Affected individuals also display a significant increase in SHH and a decrease in INSIG1 levels. Rs1861972-rs1861973 genotype is correlated with significant increases for SHH (A-C/G-T) and CNPY1 (G-T/G-T) levels. Human cell line over-expression and knock-down as well as mouse knock-out analysis are consistent with EN2 and SHH being co-regulated, which provides a possible mechanism for increased SHH postmortem levels.
Conclusions: EN2 levels are increased in affected individuals with an A-C/G-T genotype, supporting EN2 as an ASD susceptibility gene. SHH, CNPY1, and INSIG1 levels are also significantly altered depending upon affection status or rs1861972-rs1861973 genotype. Increased EN2 levels likely contribute to elevated SHH expression observed in the postmortem samples
C1 [Choi, Jiyeon; Ababon, Myka R.; Soliman, Mai; Matteson, Paul G.; Millonig, James H.] Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA.
[Lin, Yong] Canc Inst New Jersey, Piscataway, NJ USA.
[Millonig, James H.] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, Piscataway, NJ 08854 USA.
[Brzustowicz, Linda M.; Millonig, James H.] Rutgers State Univ, Dept Genet, Piscataway, NJ USA.
RP Millonig, JH (reprint author), Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA.
EM Millonig@CABM.rutgers.edu
FU National Institutes of Health [R01 MH076624, R01 MH076435, RC1
MH088288]; New Jersey Governor's Council on Autism Research; National
Alliance for Autism Research; Autism Speaks; National Alliance for
Research on Schizophrenia and Depression Young Investigator Award
FX This work was supported by National Institutes of Health (R01 MH076624),
New Jersey Governor's Council on Autism Research, National Alliance for
Autism Research, Autism Speaks, and National Alliance for Research on
Schizophrenia and Depression Young Investigator Award to JHM; National
Institutes of Health (R01 MH076435, RC1 MH088288) to LMB. 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 55
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 FEB 10
PY 2014
VL 9
IS 2
DI 10.1371/journal.pone.0087208
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA7CL
UT WOS:000331254600018
ER
PT J
AU Kroger, A
Hof, K
Krick, C
Siniatchkin, M
Jarczok, T
Freitag, CM
Bender, S
AF Kroeger, Anne
Hof, Katharina
Krick, Christoph
Siniatchkin, Michael
Jarczok, Tomasz
Freitag, Christine M.
Bender, Stephan
TI Visual Processing of Biological Motion in Children and Adolescents with
Attention-Deficit/Hyperactivity Disorder: An Event Related
Potential-Study
SO PLOS ONE
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; SUPERIOR
TEMPORAL SULCUS; HIGH-FUNCTIONING AUTISM; EVOKED-POTENTIALS;
DEVELOPMENTAL-CHANGES; ASPERGER SYNDROME; SOCIAL COGNITION; TIME-COURSE;
PERCEPTION
AB Attention-deficit/hyperactivity disorder (ADHD) is often accompanied by problems in social behaviour, which are sometimes similar to some symptoms of autism-spectrum disorders (ASD). However, neuronal mechanisms of ASD-like deficits in ADHD have rarely been studied. The processing of biological motion-recently discussed as a marker of social cognition-was found to be disrupted in ASD in several studies. Thus in the present study we tested if biological motion processing is disrupted in ADHD. We used 64-channel EEG and spatio-temporal source analysis to assess event-related potentials associated with human motion processing in 21 children and adolescents with ADHD and 21 matched typically developing controls. On the behavioural level, all subjects were able to differentiate between human and scrambled motion. But in response to both scrambled and biological motion, the N200 amplitude was decreased in subjects with ADHD. After a spatio-temporal dipole analysis, a human motion specific activation was observable in occipital-temporal regions with a reduced and more diffuse activation in ADHD subjects. These results point towards neuronal determined alterations in the processing of biological motion in ADHD.
C1 [Kroeger, Anne; Hof, Katharina; Siniatchkin, Michael; Jarczok, Tomasz; Freitag, Christine M.; Bender, Stephan] Goethe Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Frankfurt, Germany.
[Krick, Christoph] Saarland Univ Hosp, Dept Neuroradiol, Homburg, Germany.
RP Kroger, A (reprint author), Goethe Univ Hosp Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, Frankfurt, Germany.
EM Anne.Kroeger@kgu.de
FU foundation of Marie Christine Held and Erika Hecker; German Research
foundation "Deutsche Forschungsgemeinschaft'' [FR2069/2-1];
LOEWE-Program "Neuronal Coordination Research Focus Frankfurt'' (NeFF)
FX There were no industrial funders. This work was supported by the
foundation of Marie Christine Held and Erika Hecker to AK, the German
Research foundation "Deutsche Forschungsgemeinschaft'' to CMF
(FR2069/2-1), and by the LOEWE-Program "Neuronal Coordination Research
Focus Frankfurt'' (NeFF) to CMF and SB. The funders had no role in study
design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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Yano M, 2007, TRENDS PHARMACOL SCI, V28, P588, DOI 10.1016/j.tips.2007.10.004
NR 65
TC 0
Z9 0
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD FEB 10
PY 2014
VL 9
IS 2
AR e88585
DI 10.1371/journal.pone.0088585
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA7CL
UT WOS:000331254600093
PM 24520402
ER
PT J
AU Lu, FH
Petkova, E
AF Lu, Feihan
Petkova, Eva
TI A comparative study of variable selection methods in the context of
developing psychiatric screening instruments
SO STATISTICS IN MEDICINE
LA English
DT Article
DE least absolute shrinkage and selection operator; elastic net;
classification and regression tree; random forest; two-sample t-test;
missing data imputation
ID DIMENSIONAL FEATURE SPACE; REGRESSION SHRINKAGE; MODEL SELECTION; LASSO;
CLASSIFICATION; BEHAVIOR
AB The development of screening instruments for psychiatric disorders involves item selection from a pool of items in existing questionnaires assessing clinical and behavioral phenotypes. A screening instrument should consist of only a few items and have good accuracy in classifying cases and non-cases. Variable/item selection methods such as Least Absolute Shrinkage and Selection Operator (LASSO), Elastic Net, Classification and Regression Tree, Random Forest, and the two-sample t-test can be used in such context. Unlike situations where variable selection methods are most commonly applied (e.g., ultra high-dimensional genetic or imaging data), psychiatric data usually have lower dimensions and are characterized by the following factors: correlations and possible interactions among predictors, unobservability of important variables (i.e., true variables not measured by available questionnaires), amount and pattern of missing values in the predictors, and prevalence of cases in the training data. We investigate how these factors affect the performance of several variable selection methods and compare them with respect to selection performance and prediction error rate via simulations. Our results demonstrated that: (1) for complete data, LASSO and Elastic Net outperformed other methods with respect to variable selection and future data prediction, and (2) for certain types of incomplete data, Random Forest induced bias in imputation, leading to incorrect ranking of variable importance. We propose the Imputed-LASSO combining Random Forest imputation and LASSO; this approach offsets the bias in Random Forest and offers a simple yet efficient item selection approach for missing data. As an illustration, we apply the methods to items from the standard Autism Diagnostic Interview-Revised version. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Lu, Feihan] Columbia Univ, Dept Stat, New York, NY 10027 USA.
[Petkova, Eva] NYU, Dept Child & Adolescent Psychiat, New York, NY 10016 USA.
[Petkova, Eva] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA.
RP Lu, FH (reprint author), Room 1005 SSW,MC 4690,1255 Amsterdam Ave, New York, NY 10027 USA.
EM fl2238@columbia.edu
FU NIH [1R01MH089390, 1RC1MH089721]
FX We thank the reviewers and the associate editor for their thoughtful and
constructive critiques, which helped us improve this manuscript. The
authors also thank Philip Reiss, Lei Huang, Jing Wang, Wenfei Zhang, and
Thaddeus Tarpey for many helpful discussions. Finally, we thank Drs.
Cathering Lord, Somer Bishop, Marisela Huerta, and Vanessa Hus for
providing insights about the substantive research area. NIH grants
1R01MH089390 and 1RC1MH089721 in part funded this research.
CR Bondell HD, 2008, BIOMETRICS, V64, P115, DOI 10.1111/j.1541-0420.2007.00843.x
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NR 31
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0277-6715
EI 1097-0258
J9 STAT MED
JI Stat. Med.
PD FEB 10
PY 2014
VL 33
IS 3
BP 401
EP 421
DI 10.1002/sim.5937
PG 21
WC Mathematical & Computational Biology; Public, Environmental &
Occupational Health; Medical Informatics; Medicine, Research &
Experimental; Statistics & Probability
SC Mathematical & Computational Biology; Public, Environmental &
Occupational Health; Medical Informatics; Research & Experimental
Medicine; Mathematics
GA 284WO
UT WOS:000329352600004
PM 23934941
ER
PT J
AU Rossman, IT
Lin, LL
Morgan, KM
DiGiovine, M
Van Buskirk, EK
Kamdar, S
Millonig, JH
DiCicco-Bloom, E
AF Rossman, Ian T.
Lin, Lulu
Morgan, Katherine M.
DiGiovine, Marissa
Van Buskirk, Elise K.
Kamdar, Silky
Millonig, James H.
DiCicco-Bloom, Emanuel
TI Engrailed2 modulates cerebellar granule neuron precursor proliferation,
differentiation and insulin-like growth factor 1 signaling during
postnatal development
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism; Engrailed2; IGF1; Cerebellum; Neurodevelopment; Cell cycle;
Proliferation; Phospho-S6 kinase
ID CYCLASE-ACTIVATING POLYPEPTIDE; AUTISM-SPECTRUM-DISORDER;
HOMEOBOX-TRANSCRIPTION-FACTOR; INITIATION-FACTOR 4E;
BLOOD-BRAIN-BARRIER; I IGF-I; CELL-PROLIFERATION; MOUSE CEREBELLUM;
PURKINJE-CELLS; MUTANT MICE
AB Background: The homeobox transcription factor Engrailed2 (En2) has been studied extensively in neurodevelopment, particularly in the midbrain/hindbrain region and cerebellum, where it exhibits dynamic patterns of expression and regulates cell patterning and morphogenesis. Because of its roles in regulating cerebellar development and evidence of cerebellar pathology in autism spectrum disorder (ASD), we previously examined an ENGRAILED2 association and found evidence to support EN2 as a susceptibility gene, a finding replicated by several other investigators. However, its functions at the cell biological level remain undefined. In the mouse, En2 gene is expressed in granule neuron precursors (GNPs) just as they exit the cell cycle and begin to differentiate, raising the possibility that En2 may modulate these developmental processes.
Methods: To define En2 functions, we examined proliferation, differentiation and signaling pathway activation in En2 knockout (KO) and wild-type (WT) GNPs in response to a variety of extracellular growth factors and following En2 cDNA overexpression in cell culture. In vivo analyses of cerebellar GNP proliferation as well as responses to insulin-like growth factor-1 (IGF1) treatment were also conducted.
Results: Proliferation markers were increased in KO GNPs in vivo and in 24-h cultures, suggesting En2 normally serves to promote cell cycle exit. Significantly, IGF1 stimulated greater DNA synthesis in KO than WT cells in culture, a finding associated with markedly increased phospho-S6 kinase activation. Similarly, there was three-fold greater DNA synthesis in the KO cerebellum in response to IGF1 in vivo. On the other hand, KO GNPs exhibited reduced neurite outgrowth and differentiation. Conversely, En2 overexpression increased cell cycle exit and promoted neuronal differentiation.
Conclusions: In aggregate, our observations suggest that the ASD-associated gene En2 promotes GNP cell cycle exit and differentiation, and modulates IGF1 activity during postnatal cerebellar development. Thus, genetic/epigenetic alterations of EN2 expression may impact proliferation, differentiation and IGF1 signaling as possible mechanisms that may contribute to ASD pathogenesis.
C1 [Rossman, Ian T.; Lin, Lulu; Morgan, Katherine M.; DiGiovine, Marissa; Van Buskirk, Elise K.; Kamdar, Silky; Millonig, James H.; DiCicco-Bloom, Emanuel] Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, Piscataway, NJ 08854 USA.
[Rossman, Ian T.; DiCicco-Bloom, Emanuel] Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Pediat Child Neurol & Neurodev Disabil, New Brunswick, NJ 08901 USA.
[Rossman, Ian T.] Cleveland Clin, Ctr Pediat Neurol & Neurosurg, Cleveland, OH 44195 USA.
[Morgan, Katherine M.] Rutgers State Univ, Robert Wood Johnson Med Sch, Canc Inst New Jersey, Dept Med, New Brunswick, NJ 08903 USA.
[DiGiovine, Marissa] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA.
[Van Buskirk, Elise K.] Duke Univ, Dept Biol, Durham, NC 27708 USA.
[Millonig, James H.] Rutgers State Univ, Ctr Adv Biotechnol & Med, Piscataway, NJ 08854 USA.
RP DiCicco-Bloom, E (reprint author), Rutgers State Univ, Robert Wood Johnson Med Sch, Dept Neurosci & Cell Biol, 675 Hoes, Piscataway, NJ 08854 USA.
EM diciccem@rwjms.rutgers.edu
FU New Jersey Governor's Council for Medical Research and Treatment of
Autism; NIH [MH076624, MH070366, ES11256/USEPA, R82939101]; NINDS
[NS048649-01]
FX We would like to thank Xiaofeng Zhou for her invaluable contributions to
the execution of these experiments. We greatly appreciate the critical
reviews and suggestions of Drs. Karl Herrup and Carol Mason throughout
these studies. This research was supported by New Jersey Governor's
Council for Medical Research and Treatment of Autism (E.D.-B., J.H.M.);
NIH MH076624 (J.H.M., E.D.-B.); NIH MH070366 (J.H.M.,E.D.-B.); NIH
ES11256/USEPA R82939101 (E.D.- B.); NINDS NS048649-01 (I.R.,E.D.- B.).
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NR 113
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 FEB 7
PY 2014
VL 5
AR 9
DI 10.1186/2040-2392-5-9
PG 18
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4VK
UT WOS:000334712200001
PM 24507165
ER
PT J
AU Satten, GA
Allen, AS
Ikeda, M
Mulle, JG
Warren, ST
AF Satten, Glen A.
Allen, Andrew S.
Ikeda, Morna
Mulle, Jennifer G.
Warren, Stephen T.
TI Robust Regression Analysis of Copy Number Variation Data based on a
Univariate Score
SO PLOS ONE
LA English
DT Article
ID ARRAY CGH DATA; HIGH-RISK; SCHIZOPHRENIA; SEGMENTATION; AUTISM; MODEL
AB Motivation: The discovery that copy number variants (CNVs) are widespread in the human genome has motivated development of numerous algorithms that attempt to detect CNVs from intensity data. However, all approaches are plagued by high false discovery rates. Further, because CNVs are characterized by two dimensions (length and intensity) it is unclear how to order called CNVs to prioritize experimental validation.
Results: We developed a univariate score that correlates with the likelihood that a CNV is true. This score can be used to order CNV calls in such a way that calls having larger scores are more likely to overlap a true CNV. We developed cnv.beast, a computationally efficient algorithm for calling CNVs that uses robust backward elimination regression to keep CNV calls with scores that exceed a user-defined threshold. Using an independent dataset that was measured using a different platform, we validated our score and showed that our approach performed better than six other currently-available methods.
Availability: cnv.beast is available at http://www.duke.edu/similar to asallen/Software.html.
C1 [Satten, Glen A.] Ctr Dis Control & Prevent, Div Reprod Hlth, Atlanta, GA 30329 USA.
[Allen, Andrew S.] Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA.
[Allen, Andrew S.] Duke Univ, Duke Clin Res Inst, Durham, NC USA.
[Ikeda, Morna; Mulle, Jennifer G.] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA.
[Mulle, Jennifer G.; Warren, Stephen T.] Emory Univ, Dept Epidemiol, Atlanta, GA 30322 USA.
RP Satten, GA (reprint author), Ctr Dis Control & Prevent, Div Reprod Hlth, Atlanta, GA 30329 USA.
EM GSatten@cdc.gov
FU NIH [MH080129, MH083722, MH080583, HL077663, MH084680]; Simons
Foundation
FX MI, JGM, and STW are supported, in part, by NIH grants MH080129 and
MH083722 and by the Simons Foundation (to STW). JGM was supported by a
NIH fellowship award (MH080583). ASA is supported by NIH grants HL077663
and MH084680. The funders had no role in the study design, data
collection and analysis, decision to publish, or preparation of the
manuscript.
CR Ely B, 2009, THESIS U WASHINGTON
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NR 19
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 FEB 7
PY 2014
VL 9
IS 2
AR e86272
DI 10.1371/journal.pone.0086272
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA1CR
UT WOS:000330834400007
PM 24516529
ER
PT J
AU Tyzio, R
Nardou, R
Ferrari, DC
Tsintsadze, T
Shahrokhi, A
Eftekhari, S
Khalilov, I
Tsintsadze, V
Brouchoud, C
Chazal, G
Lemonnier, E
Lozovaya, N
Burnashev, N
Ben-Ari, Y
AF Tyzio, Roman
Nardou, Romain
Ferrari, Diana C.
Tsintsadze, Timur
Shahrokhi, Amene
Eftekhari, Sanaz
Khalilov, Ilgam
Tsintsadze, Vera
Brouchoud, Corinne
Chazal, Genevieve
Lemonnier, Eric
Lozovaya, Natalia
Burnashev, Nail
Ben-Ari, Yehezkel
TI Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism
Pathogenesis in Rodent Offspring
SO SCIENCE
LA English
DT Article
ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; VASOPRESSIN; CHILDREN;
NEURONS; BRAIN
AB We report that the oxytocin-mediated neuroprotective g-aminobutyric acid (GABA) excitatory-inhibitory shift during delivery is abolished in the valproate and fragile X rodent models of autism. During delivery and subsequently, hippocampal neurons in these models have elevated intracellular chloride levels, increased excitatory GABA, enhanced glutamatergic activity, and elevated gamma oscillations. Maternal pretreatment with bumetanide restored in offspring control electrophysiological and behavioral phenotypes. Conversely, blocking oxytocin signaling in naive mothers produced offspring having electrophysiological and behavioral autistic-like features. Our results suggest a chronic deficient chloride regulation in these rodent models of autism and stress the importance of oxytocin-mediated GABAergic inhibition during the delivery process. Our data validate the amelioration observed with bumetanide and oxytocin and point to common pathways in a drug-induced and a genetic rodent model of autism.
C1 [Tyzio, Roman; Tsintsadze, Timur; Khalilov, Ilgam; Tsintsadze, Vera; Brouchoud, Corinne; Chazal, Genevieve; Lozovaya, Natalia; Burnashev, Nail; Ben-Ari, Yehezkel] INSERM, Mediterranean Inst Neurobiol INMED, U901, F-13258 Marseille, France.
[Tyzio, Roman; Tsintsadze, Timur; Khalilov, Ilgam; Tsintsadze, Vera; Brouchoud, Corinne; Chazal, Genevieve; Lozovaya, Natalia; Burnashev, Nail; Ben-Ari, Yehezkel] Aix Marseille Univ, UMR 901, Marseille, France.
[Nardou, Romain; Ferrari, Diana C.; Tsintsadze, Timur; Shahrokhi, Amene; Eftekhari, Sanaz; Ben-Ari, Yehezkel] Neurochlore, F-13273 Marseille 09, France.
[Lemonnier, Eric] Lab Neurosci Brest EA4685, Brest, France.
RP Ben-Ari, Y (reprint author), INSERM, Mediterranean Inst Neurobiol INMED, U901, F-13258 Marseille, France.
EM yehezkel.ben-ari@inserm.fr
FU INSERM; Neurochlore; France's Agence Nationale de la Recherche
[ANR-12-RPIB-0001-01]; Simons Foundation (SFARI) [230267]
FX We thank at INMED C. Rivera and C. Pellegrino for their assistance on
the Western blot and for the panKCC2 antibody, R. Martinez for his
technical help with the ultrasonic setup, and M. L. Scattoni and M. Wohr
for their assistance with the vocalization experiments and analysis.
This study was supported by INSERM (funds to INMED), Neurochlore,
France's Agence Nationale de la Recherche (ANR-12-RPIB-0001-01), and the
Simons Foundation (SFARI award #230267 to Y. B-A.). We also thank
Sanofi-Syntelabo for the gift of SSR126768A. On 13 January 2011,
Neurochlore filed a patent entitled "Compounds for the treatment of
autism" (U.S. patent number 13/522372, worldwide PCT/EP2011/050394); Y.
B-A. and E. L. are identified as inventors of this patent. Y. B-A. and
E. L. are founders and shareholders of Neurochlore, a company focused on
the treatment of developmental disorders. R.N. and D. C. F. own shares
in Neurochlore.
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NR 25
TC 43
Z9 44
PU AMER ASSOC ADVANCEMENT SCIENCE
PI WASHINGTON
PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA
SN 0036-8075
EI 1095-9203
J9 SCIENCE
JI Science
PD FEB 7
PY 2014
VL 343
IS 6171
BP 675
EP 679
DI 10.1126/science.1247190
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 304CP
UT WOS:000330724000046
PM 24503856
ER
PT J
AU Nielsen, JA
Zielinski, BA
Fletcher, PT
Alexander, AL
Lange, N
Bigler, ED
Lainhart, JE
Anderson, JS
AF Nielsen, Jared A.
Zielinski, Brandon A.
Fletcher, P. Thomas
Alexander, Andrew L.
Lange, Nicholas
Bigler, Erin D.
Lainhart, Janet E.
Anderson, Jeffrey S.
TI Abnormal lateralization of functional connectivity between language and
default mode regions in autism
SO MOLECULAR AUTISM
LA English
DT Article
DE brain lateralization; brain asymmetry; autism; autism spectrum disorder;
language; functional magnetic; resonance imaging; functional
connectivity
ID GLOBAL SIGNAL REGRESSION; SPECTRUM DISORDERS; CORTICAL ACTIVATION;
ASSOCIATION CORTEX; COMPLEX SOUNDS; BRAIN; ASYMMETRY; NETWORKS;
CHILDREN; IMPAIRMENT
AB Background: Lateralization of brain structure and function occurs in typical development, and abnormal lateralization is present in various neuropsychiatric disorders. Autism is characterized by a lack of left lateralization in structure and function of regions involved in language, such as Broca and Wernicke areas.
Methods: Using functional connectivity magnetic resonance imaging from a large publicly available sample (n = 964), we tested whether abnormal functional lateralization in autism exists preferentially in language regions or in a more diffuse pattern across networks of lateralized brain regions.
Results: The autism group exhibited significantly reduced left lateralization in a few connections involving language regions and regions from the default mode network, but results were not significant throughout left-and right-lateralized networks. There is a trend that suggests the lack of left lateralization in a connection involving Wernicke area and the posterior cingulate cortex associates with more severe autism.
Conclusions: Abnormal language lateralization in autism may be due to abnormal language development rather than to a deficit in hemispheric specialization of the entire brain.
C1 [Nielsen, Jared A.; Anderson, Jeffrey S.] Univ Utah, Interdept Program Neurosci, Salt Lake City, UT 84132 USA.
[Nielsen, Jared A.] Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA.
[Zielinski, Brandon A.] Univ Utah, Dept Pediat & Neurol, Salt Lake City, UT 84108 USA.
[Zielinski, Brandon A.] Primary Childrens Med Ctr, Salt Lake City, UT 84108 USA.
[Fletcher, P. Thomas] Univ Utah, Sch Comp & Sci Comp, Salt Lake City, UT 84112 USA.
[Fletcher, P. Thomas] Univ Utah, Imaging Inst, Salt Lake City, UT 84112 USA.
[Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Dept Psychiat, Madison, WI 53705 USA.
[Alexander, Andrew L.; Lainhart, Janet E.] Univ Wisconsin, Waisman Lab Brain Imaging & Behav, Madison, WI 53705 USA.
[Alexander, Andrew L.] Univ Wisconsin, Dept Med Phys, Madison, WI 53705 USA.
[Lange, Nicholas] Harvard Univ, Dept Psychiat & Biostat, Boston, MA 02215 USA.
[Lange, Nicholas] McLean Hosp, Neurostat Lab, Belmont, MA 02478 USA.
[Bigler, Erin D.] Brigham Young Univ, Dept Psychol, Provo, UT 84602 USA.
[Bigler, Erin D.] Brigham Young Univ, Ctr Neurosci, Provo, UT 84602 USA.
[Bigler, Erin D.; Anderson, Jeffrey S.] Univ Utah, Brain Inst Utah, Salt Lake City, UT 84112 USA.
[Anderson, Jeffrey S.] Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USA.
[Anderson, Jeffrey S.] Univ Utah, Sch Med 1A71, Dept Radiol, Salt Lake City, UT 84132 USA.
RP Anderson, JS (reprint author), Univ Utah, Interdept Program Neurosci, 20 North 1900 East, Salt Lake City, UT 84132 USA.
EM andersonjeffs@gmail.com
FU NIH [K08MH092697, R01MH084795, R01MH080826, T32DC008553]; Morrell Family
Foundation (JSA)
FX The analysis described was supported by NIH grant numbers K08MH092697
(JSA), R01MH084795 (JEL, PTF, NL), R01MH080826 (JEL, ALA, NL, EDB),
T32DC008553 (JAN), the Flamm Family Foundation (JSA), the Morrell Family
Foundation (JSA). The content is solely the responsibility of the
authors and does not necessarily represent the official views of the
National Institute of Mental Health or the National Institutes of
Health. Funding sources for the ABIDE dataset are listed at fcon_ 1000.
projects. nitrcc.org/indi/abide. We thank Alyson Froehlich, Molly
Prigge, Jason Cooperrider, Anna Cariello, and Celeste Knowles for their
contributions to this project. We also sincerely thank the children,
adolescents, and adults with autism, the individuals with typical
development, and all the families who participated in this study.
Finally, we would like to thank the anonymous reviewers whose thoughtful
comments and questions greatly improved the manuscript.
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NR 69
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 FEB 6
PY 2014
VL 5
AR 8
DI 10.1186/2040-2392-5-8
PG 11
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4VA
UT WOS:000334711200001
PM 24502324
ER
PT J
AU Orekhova, EV
Stroganova, TA
AF Orekhova, Elena V.
Stroganova, Tatiana A.
TI Arousal and attention re-orienting in autism spectrum disorders:
evidence from auditory event-related potentials
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE autism spectrum disorders (ASD); arousal; attention re-orienting;
sensory modulation; auditory event-related potentials; cholinergic
pathways; nicotine
ID NICOTINIC ACETYLCHOLINE-RECEPTOR; CORTICAL CHOLINERGIC INPUTS;
HIGH-FUNCTIONING AUTISM; NON-SPEECH SOUNDS; GAP OVERLAP TASK; MISMATCH
NEGATIVITY; ASPERGER-SYNDROME; BASAL FOREBRAIN; YOUNG-CHILDREN;
VISUOSPATIAL ATTENTION
AB The extended phenotype of autism spectrum disorders (ASD) includes a combination of arousal regulation problems, sensory modulation difficulties, and attention re-orienting deficit. A slow and inefficient re-orienting to stimuli that appear outside of the attended sensory stream is thought to be especially detrimental for social functioning. Event-related potentials (ERPs) and magnetic fields (ERFs) may help to reveal which processing stages underlying brain response to unattended but salient sensory event are affected in individuals with ASD. Previous research focusing on two sequential stages of the brain response automatic detection of physical changes in auditory stream, indexed by mismatch negativity (MMN), and evaluation of stimulus novelty, indexed by P3a component, found in individuals with ASD either increased, decreased, or normal processing of deviance and novelty. The review examines these apparently conflicting results, notes gaps in previous findings, and suggests a potentially unifying hypothesis relating the dampened responses to unattended sensory events to the deficit in rapid arousal process. Specifically, "sensory gating" studies focused on pre-attentive arousal consistently demonstrated that brain response to unattended and temporally novel sound in ASD is already affected at around 100 ms after stimulus onset. We hypothesize that abnormalities in nicotinic cholinergic arousal pathways, previously reported in individuals with ASD, may contribute to these ERP/ERF aberrations and result in attention re-orienting deficit. Such cholinergic dysfunction may be present in individuals with ASD early in life and can influence both sensory processing and attention re-orienting behavior. Identification of early neurophysiological biomarkers for cholinergic deficit would help to detect infants "at risk" who can potentially benefit from particular types of therapies or interventions.
C1 [Orekhova, Elena V.; Stroganova, Tatiana A.] Moscow State Univ Psychol & Educ, MEG Ctr, Moscow 123290, Russia.
[Orekhova, Elena V.] Sahlgrens Acad, MedTech West, Gothenburg, Sweden.
RP Orekhova, EV (reprint author), Moscow State Univ Psychol & Educ, MEG Ctr, Shelepihinskaja Embankment 2a, Moscow 123290, Russia.
EM orekhova.elena.v@gmail.com
FU Russian Ministry of Science and Education [16.518.11.7088]; grant ofi-m
from Russian foundation for basic research [09-06-12042]
FX This research was supported by grant # 16.518.11.7088 from the Russian
Ministry of Science and Education and grant ofi-m # 09-06-12042 from
Russian foundation for basic research.
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NR 193
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD FEB 6
PY 2014
VL 8
AR 34
DI 10.3389/fnhum.2014.00034
PG 17
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AB6ZT
UT WOS:000331939800001
PM 24567709
ER
PT J
AU Devanna, P
Vernes, SC
AF Devanna, Paolo
Vernes, Sonja C.
TI A direct molecular link between the autism candidate gene RORa and the
schizophrenia candidate MIR137
SO SCIENTIFIC REPORTS
LA English
DT Article
ID LYMPHOBLASTOID CELL-LINES; PURKINJE-CELLS; SPECTRUM DISORDERS;
EXPRESSION; CEREBELLUM; IDENTIFICATION; MICRORNAS; STAGGERER; TARGETS;
ALPHA
AB Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes.
C1 [Devanna, Paolo; Vernes, Sonja C.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands.
[Vernes, Sonja C.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands.
RP Vernes, SC (reprint author), Max Planck Inst Psycholinguist, Language & Genet Dept, Wundtlaan 1, NL-6525 XD Nijmegen, Netherlands.
EM Sonja.vernes@mpi.nl
RI Vernes, Sonja/E-8454-2012
OI Vernes, Sonja/0000-0003-0305-4584
FU Marie Curie career integration grant (CIG)
FX This work was supported by a Marie Curie career integration grant (CIG)
awarded to S.C.V.
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NR 36
TC 6
Z9 6
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 FEB 6
PY 2014
VL 4
AR 3994
DI 10.1038/srep03994
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA6QP
UT WOS:000331223300001
PM 24500708
ER
PT J
AU Wang, JH
Vachet, C
Rumple, A
Gouttard, S
Ouziel, C
Perrot, E
Du, GW
Huang, XM
Gerig, GD
Styner, M
AF Wang, Jiahui
Vachet, Clement
Rumple, Ashley
Gouttard, Sylvain
Ouziel, Clementine
Perrot, Emilie
Du, Guangwei
Huang, Xuemei
Gerig, Guido
Styner, Martin
TI Multi-atlas segmentation of subcortical brain structures via the AutoSeg
software pipeline
SO FRONTIERS IN NEUROINFORMATICS
LA English
DT Article
DE segmentation; registration; MRI; atlas; brain; Insight Toolkit
ID PARKINSONS-DISEASE; IMAGE SEGMENTATION; PROBABILISTIC ATLAS; MR-IMAGES;
REGISTRATION; SELECTION; AUTISM; CLASSIFICATION; ALGORITHMS; STRATEGIES
AB Automated segmenting and labeling of individual brain anatomical regions, in MRI are challenging, due to the issue of individual structural variability. Although atlas-based segmentation has shown its potential for both tissue and structure segmentation, due to the inherent natural variability as well as disease-related changes in MR appearance, a single atlas image is often inappropriate to represent the full population of datasets processed in a given neuroimaging study. As an alternative for the case of single atlas segmentation, the use of multiple atlases alongside label fusion techniques has been introduced using a set of individual "atlases" that encompasses the expected variability in the studied population. In our study, we proposed a multi-atlas segmentation scheme with a novel graph-based atlas selection technique. We first paired and co-registered all atlases and the subject MR scans. A directed graph with edge weights based on intensity and shape similarity between all MR scans is then computed. The set of neighboring templates is selected via clustering of the graph. Finally, weighted majority voting is employed to create the final segmentation over the selected atlases. This multi-atlas segmentation scheme is used to extend a single-atlas-based segmentation toolkit entitled AutoSeg, which is an open-source, extensible C++ based software pipeline employing Batch Make for its pipeline scripting, developed at the Neuro Image Research and Analysis Laboratories of the University of North Carolina at Chapel Hill. AutoSeg performs N4 intensity inhomogeneity correction, rigid registration to a common template space, automated brain tissue classification based skull-stripping, and the multi-atlas segmentation. The multi-atlas-based AutoSeg has been evaluated on subcortical structure segmentation with a testing dataset of 20 adult brain MRI scans and 15 atlas MRI scans. The AutoSeg achieved mean Dice coefficients of 81.73% for the subcortical structures.
C1 [Wang, Jiahui; Rumple, Ashley; Ouziel, Clementine; Perrot, Emilie; Styner, Martin] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Vachet, Clement; Gerig, Guido] Univ Utah, Sci Computing & Imaging Inst, Salt Lake City, UT USA.
[Gouttard, Sylvain] Bioclin, Lyon, France.
[Du, Guangwei; Huang, Xuemei] Penn State Univ, Milton Hershey Med Ctr, Dept Neurol Neurosurg & Radiol, Hershey, PA USA.
[Styner, Martin] Univ N Carolina, Dept Comp Sci, Chapel Hill, NC USA.
RP Wang, JH (reprint author), Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
EM jiahui_wang@med.unc.edu
FU National Institutes of Health [R42 NS059095, U24 NS059696-01A1,
HD-055741, U54 EB005149, R01 NS060722, HD-003110]; North Carolina
Translational and Clinical Sciences Institute [50KR71104]; [P50
AG05681]; [P01 AG03991]; [R01 AG021910]; [P50 MH071616]; [U24
RR021382]; [R01 MH56584]
FX This work was supported by the National Institutes of Health Grant Nos.
R42 NS059095, U24 NS059696-01A1, HD-055741, U54 EB005149 (NA-MIC), R01
NS060722, HD-003110, North Carolina Translational and Clinical Sciences
Institute 50KR71104. In this study, the MRI scans were selected from
OASIS database, which was supported by P50 AG05681, P01 AG03991, R01
AG021910, P50 MH071616, U24 RR021382, R01 MH56584.
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NR 51
TC 0
Z9 0
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5196
J9 FRONT NEUROINFORM
JI Front. Neuroinformatics
PD FEB 6
PY 2014
VL 8
AR 7
DI 10.3389/fninf.2014.00007
PG 11
WC Mathematical & Computational Biology; Neurosciences
SC Mathematical & Computational Biology; Neurosciences & Neurology
GA AZ3CK
UT WOS:000348105200001
PM 24567717
ER
PT J
AU Elmore, MRP
Burton, MD
Conrad, MS
Rytych, JL
Van Alstine, WG
Johnson, RW
AF Elmore, Monica R. P.
Burton, Michael D.
Conrad, Matthew S.
Rytych, Jennifer L.
Van Alstine, William G.
Johnson, Rodney W.
TI Respiratory Viral Infection in Neonatal Piglets Causes Marked Microglia
Activation in the Hippocampus and Deficits in Spatial Learning
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE brain; cognition; inflammation; PRRSV; sickness behavior
ID AUTISM SPECTRUM DISORDERS; INDUCED SICKNESS BEHAVIOR;
CENTRAL-NERVOUS-SYSTEM; T-MAZE TASK; INFLUENZA INFECTION; SYNDROME
VIRUS; IMMUNE-SYSTEM; BRAIN GROWTH; SPINAL-CORD; PLACE
AB Environmental insults during sensitive periods can affect hippocampal development and function, but little is known about peripheral infection, especially in humans and other animals whose brain is gyrencephalic and experiences major perinatal growth. Using a piglet model, the present study showed that inoculation on postnatal day 7 with the porcine reproductive and respiratory syndrome virus (PRRSV) caused microglial activation within the hippocampus with 82% and 43% of isolated microglia being MHC II+ 13 and 20 d after inoculation, respectively. In control piglets, <5% of microglia isolated from the hippocampus were MHC II+. PRRSV piglets were febrile (p < 0.0001), anorectic (p < 0.0001), and weighed less at the end of the study (p = 0.002) compared with control piglets. Increased inflammatory gene expression (e.g., IL-1 beta, IL-6, TNF-alpha, and IFN-gamma) was seen across multiple brain regions, including the hippocampus, whereas reductions in CD200, NGF, and MBP were evident. In a test of spatial learning, PRRSV piglets took longer to acquire the task, had a longer latency to choice, and had a higher total distance moved. Overall, these data demonstrate that viral respiratory infection is associated with a marked increase in activated microglia in the hippocampus, neuroinflammation, and impaired performance in a spatial cognitive task. As respiratory infections are common in human neonates and infants, approaches to regulate microglial cell activity are likely to be important.
C1 [Elmore, Monica R. P.; Burton, Michael D.; Johnson, Rodney W.] Univ Illinois, Dept Anim Sci, Urbana, IL 61801 USA.
[Elmore, Monica R. P.; Burton, Michael D.; Conrad, Matthew S.; Rytych, Jennifer L.; Johnson, Rodney W.] Univ Illinois, Integrat Immunol & Behav Program, Urbana, IL 61801 USA.
[Conrad, Matthew S.; Johnson, Rodney W.] Univ Illinois, Neurosci Program, Urbana, IL 61801 USA.
[Van Alstine, William G.] Purdue Univ, Dept Comparat Pathol, W Lafayette, IN 47907 USA.
RP Johnson, RW (reprint author), Univ Illinois, 1207 West Gregory Dr, Urbana, IL 61801 USA.
EM rwjohn@illinois.edu
FU NIH [HD069899]; NIFA [ILLU-538-913]
FX This work was supported by NIH HD069899 and NIFA ILLU-538-913 (to
R.W.J.). We thank the following staff and students for their assistance
with this project: Ravi Amin, Brandi Burton, Kaleigh Evans, Tara Garcia,
Trisha Gibbons, Tyler Kuper, Hongnan Liu, Sarah Main, Geraldine Petr,
Barbara Pilas, Peter Prestia, Casey Radlowski, Brigitte Townsend, Paige
Wachholz, and Sara Westergaard.
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NR 64
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 FEB 5
PY 2014
VL 34
IS 6
BP 2120
EP 2129
DI 10.1523/JNEUROSCI.2180-13.2014
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA AB0AW
UT WOS:000331455200011
PM 24501353
ER
PT J
AU Grayson, DS
Ray, S
Carpenter, S
Iyer, S
Dias, TGC
Stevens, C
Nigg, JT
Fair, DA
AF Grayson, David S.
Ray, Siddharth
Carpenter, Samuel
Iyer, Swathi
Dias, Taciana G. Costa
Stevens, Corinne
Nigg, Joel T.
Fair, Damien A.
TI Structural and Functional Rich Club Organization of the Brain in
Children and Adults
SO PLOS ONE
LA English
DT Article
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; GRAPH-THEORETICAL ANALYSIS;
NETWORK CONNECTIVITY; COGNITIVE CONTROL; DEFAULT MODE; SCHIZOPHRENIA;
ARCHITECTURE; INTEGRATION; CORTEX; MRI
AB Recent studies using Magnetic Resonance Imaging (MRI) have proposed that the brain's white matter is organized as a rich club, whereby the most highly connected regions of the brain are also highly connected to each other. Here we use both functional and diffusion-weighted MRI in the human brain to investigate whether the rich club phenomena is present with functional connectivity, and how this organization relates to the structural phenomena. We also examine whether rich club regions serve to integrate information between distinct brain systems, and conclude with a brief investigation of the developmental trajectory of rich-club phenomena. In agreement with prior work, both adults and children showed robust structural rich club organization, comprising regions of the superior medial frontal/dACC, medial parietal/PCC, insula, and inferior temporal cortex. We also show that these regions were highly integrated across the brain's major networks. Functional brain networks were found to have rich club phenomena in a similar spatial layout, but a high level of segregation between systems. While no significant differences between adults and children were found structurally, adults showed significantly greater functional rich club organization. This difference appeared to be driven by a specific set of connections between superior parietal, insula, and supramarginal cortex. In sum, this work highlights the existence of both a structural and functional rich club in adult and child populations with some functional changes over development. It also offers a potential target in examining atypical network organization in common developmental brain disorders, such as ADHD and Autism.
C1 [Grayson, David S.; Ray, Siddharth; Carpenter, Samuel; Iyer, Swathi; Dias, Taciana G. Costa; Stevens, Corinne; Nigg, Joel T.; Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
[Grayson, David S.] Univ Calif Davis, Ctr Neurosci, Davis, CA 95616 USA.
[Dias, Taciana G. Costa] Univ Sao Paulo, Sch Med, Hosp Clin, Inst Psychiat, Sao Paulo, Brazil.
[Nigg, Joel T.; Fair, Damien A.] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97201 USA.
[Fair, Damien A.] Oregon Hlth & Sci Univ, Adv Imaging Res Ctr, Portland, OR 97201 USA.
RP Grayson, DS (reprint author), Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA.
EM dgrayson@ucdavis.edu; faird@ohsu.edu
FU National Institutes of Health [R00 MH091238, R01 MH096773, R01
MH086654]; National Institute of Mental Health [R00 MH091238, R01
MH096773, R01 MH086654]; Oregon Clinical and Translational Research
Institute; Medical Research Foundation; McDonnell Foundation
FX Funders for grants R00 MH091238 (DF), R01 MH096773 (DF) and R01 MH086654
(JN) are National Institutes of Health and National Institute of Mental
Health. Funding also included Oregon Clinical and Translational Research
Institute (DF), Medical Research Foundation (DF), R01 MH096773 (DF), and
McDonnell Foundation (Petersen/Sporns/DF). 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 56
TC 11
Z9 11
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 FEB 5
PY 2014
VL 9
IS 2
AR e88297
DI 10.1371/journal.pone.0088297
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA1AT
UT WOS:000330829200169
PM 24505468
ER
PT J
AU LaConte, LEW
Chavan, V
Mukherjee, K
AF LaConte, Leslie E. W.
Chavan, Vrushali
Mukherjee, Konark
TI Identification and Glycerol-Induced Correction of Misfolding Mutations
in the X-Linked Mental Retardation Gene CASK
SO PLOS ONE
LA English
DT Article
ID PROTEIN STABILITY CHANGES; AMYLOID-FIBRIL FORMATION; PRESYNAPTIC ACTIVE
ZONE; DE-NOVO MUTATIONS; CHEMICAL CHAPERONES; FLUORESCENT PROTEIN;
SECONDARY STRUCTURE; DISORDERED REGIONS; MISSENSE MUTATIONS; SYNAPTIC
FUNCTION
AB The overwhelming amount of available genomic sequence variation information demands a streamlined approach to examine known pathogenic mutations of any given protein. Here we seek to outline a strategy to easily classify pathogenic missense mutations that cause protein misfolding and are thus good candidates for chaperone-based therapeutic strategies, using previously identified mutations in the gene CASK. We applied a battery of bioinformatics algorithms designed to predict potential impact on protein structure to five pathogenic missense mutations in the protein CASK that have been shown to underlie pathologies ranging from X-linked mental retardation to autism spectrum disorder. A successful classification of the mutations as damaging was not consistently achieved despite the known pathogenicity. In addition to the bioinformatics analyses, we performed molecular modeling and phylogenetic comparisons. Finally, we developed a simple high-throughput imaging assay to measure the misfolding propensity of the CASK mutants in situ. Our data suggests that a phylogenetic analysis may be a robust method for predicting structurally damaging mutations in CASK. Mutations in two evolutionarily invariant residues (Y728C and W919R) exhibited a strong propensity to misfold and form visible aggregates in the cytosolic milieu. The remaining mutations (R28L, Y268H, and P396S) showed no evidence of aggregation and maintained their interactions with known CASK binding partners liprin-alpha 3 Mint-1, and Veli, indicating an intact structure. Intriguingly, the protein aggregation caused by the Y728C and W919R mutations was reversed by treating the cells with a chemical chaperone (glycerol), providing a possible therapeutic strategy for treating structural mutations in CASK in the future.
C1 [LaConte, Leslie E. W.; Chavan, Vrushali; Mukherjee, Konark] Virginia Tech, Virginia Tech Carilion Res Inst, Roanoke, VA 24016 USA.
[Mukherjee, Konark] Virginia Tech, Dept Biol Sci, Blacksburg, VA USA.
RP Mukherjee, K (reprint author), Virginia Tech, Virginia Tech Carilion Res Inst, Roanoke, VA 24016 USA.
EM konark@vtc.vt.edu
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NR 93
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 FEB 5
PY 2014
VL 9
IS 2
AR e88276
DI 10.1371/journal.pone.0088276
PG 15
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA1AT
UT WOS:000330829200162
PM 24505460
ER
PT J
AU Bjornsdotter, M
Gordon, I
Pelphrey, KA
Olausson, H
Kaiser, MD
AF Bjornsdotter, Malin
Gordon, Ilanit
Pelphrey, Kevin A.
Olausson, Hakan
Kaiser, Martha D.
TI Development of brain mechanisms for processing affective touch
SO FRONTIERS IN BEHAVIORAL NEUROSCIENCE
LA English
DT Article
DE fMRI; touch; brain; children; development
ID POSTERIOR INSULAR CORTEX; UNMYELINATED TACTILE AFFERENTS; GENTLE TOUCH;
PREFRONTAL CORTEX; SENSORY NEURONS; FMRI; CHILDREN; RAT; STIMULATION;
ACTIVATION
AB Affective tactile stimulation plays a key role in the maturation of neural circuits, but the development of brain mechanisms processing touch is poorly understood. We therefore used functional magnetic resonance imaging (fMRI) to study brain responses to soft brush stroking of both glabrous (palm) and hairy (forearm) skin in healthy children (5-13 years), adolescents (14-17 years), and adults (25-35 years). Adult-defined regions-of-interests in the primary somatosensory cortex (SI), secondary somatosensory cortex (SID, insular cortex and right posterior superior temporal sulcus (pSTS) were significantly and similarly activated in all age groups. Whole-brain analyses revealed that responses in the ipsilateral SII were positively correlated with age in both genders, and that responses in bilateral regions near the pSTS correlated significantly and strongly with age in females but not in males. These results suggest that brain mechanisms associated with both sensory-discriminative and affective-motivational aspects of touch are largely established in school-aged children, and that there is a general continuing maturation of SII and a female-specific increase in pSTS sensitivity with age. Our work establishes a groundwork for future comparative studies of tactile processing in developmental disorders characterized by disrupted social perception such as autism.
C1 [Bjornsdotter, Malin; Olausson, Hakan] Univ Gothenburg, Inst Neurosci & Physiol, Dept Physiol, S-40530 Gothenburg, Sweden.
[Gordon, Ilanit; Pelphrey, Kevin A.; Kaiser, Martha D.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
RP Bjornsdotter, M (reprint author), Univ Gothenburg, Inst Neurosci & Physiol, Dept Physiol, POB 100, S-40530 Gothenburg, Sweden.
EM malin.bjornsdotter@neuro.gu.se
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NR 48
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5153
J9 FRONT BEHAV NEUROSCI
JI Front. Behav. Neurosci.
PD FEB 4
PY 2014
VL 8
DI 10.3389/fnbeh.2014.00024
PG 10
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 301VS
UT WOS:000330560800001
ER
PT J
AU Brunetti, M
Zappasodi, F
Marzetti, L
Perrucci, MG
Cirillo, S
Romani, GL
Pizzella, V
Aureli, T
AF Brunetti, Marcella
Zappasodi, Filippo
Marzetti, Laura
Perrucci, Mauro Gianni
Cirillo, Simona
Romani, Gian Luca
Pizzella, Vittorio
Aureli, Tiziana
TI Do you know what I mean? Brain oscillations and the understanding of
communicative intentions
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE declarative pointing; theory of mind; social cognition; beta rhythm;
gamma rhythm
ID SUPERIOR TEMPORAL SULCUS; MEDIAL FRONTAL-CORTEX; PREFRONTAL CORTEX;
FUNCTIONAL CONNECTIVITY; SOCIAL-INTERACTION; CORTICAL RHYTHMS; PARIETAL
CORTEX; WORKING-MEMORY; MIND; PERCEPTION
AB Pointing gesture allows children to communicate their intentions before the acquisition of language. In particular, two main purposes seem to underlie the gesture: to request a desired object (imperative pointing) or to share attention on that object (declarative pointing). Since the imperative pointing has an instrumental goal and the declarative has an interpersonal one, only the latter gesture is thought to signal the infant's awareness of the communicative partner as a mental agent. The present study examined the neural responses of adult subjects with the aim to test the hypothesis that declarative rather than imperative pointing reflects mentalizing skills. Fourteen subjects were measured in a magnetoencephalographic environment including four conditions, based on the goal of the pointing imperative or declarative and the role of the subject sender or receiver of pointing.Time frequency modulations of brain activity in each condition (declarative production and comprehension, imperative production and comprehension) were analyzed. Both low beta and high beta power were stronger during declarative than imperative condition in anterior cingulated cortex and right posterior superior temporal sulcus, respectively. Furthermore, high gamma activity was higher in right temporo-parietal junction during the sender than receiving condition. This suggests that communicative pointing modulated brain regions previously described in neuroimaging research as linked to social cognitive skills and that declarative pointing is more capable of eliciting that activation than imperative. Our results contribute to the understanding of the roles of brain rhythm dynamics in social cognition, thus supporting neural research on that topic during developmental both in typical and atypical conditions, such as autism spectrum disorder. In particular, the identification of relevant regions in a mature brain may stimulate a future work on the developmental changes of neural activation in the same regions.
C1 [Brunetti, Marcella; Zappasodi, Filippo; Marzetti, Laura; Perrucci, Mauro Gianni; Romani, Gian Luca; Pizzella, Vittorio] Univ G Annunzio Chieti Pescara, Inst Adv Biomed Technol, I-66013 Chieti, Italy.
[Brunetti, Marcella; Zappasodi, Filippo; Marzetti, Laura; Perrucci, Mauro Gianni; Cirillo, Simona; Romani, Gian Luca; Pizzella, Vittorio; Aureli, Tiziana] Univ G Annunzio Chieti Pescara, Dept Neurosci & Imaging, I-66013 Chieti, Italy.
RP Brunetti, M (reprint author), Univ G Annunzio Chieti Pescara, Inst Adv Biomed Technol, Dept Neurosci & Imaging, Via Dei Vestini 33, I-66013 Chieti, Italy.
EM mbrunetti@itab.unich.it
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NR 76
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 FEB 4
PY 2014
VL 8
AR 36
DI 10.3389/fnhum.2014.00036
PG 12
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 302YE
UT WOS:000330640300002
PM 24550813
ER
PT J
AU Koldewyn, K
Yendiki, A
Weigelt, S
Gweon, H
Julian, J
Richardson, H
Malloy, C
Saxe, R
Fischl, B
Kanwisher, N
AF Koldewyn, Kami
Yendiki, Anastasia
Weigelt, Sarah
Gweon, Hyowon
Julian, Joshua
Richardson, Hilary
Malloy, Caitlin
Saxe, Rebecca
Fischl, Bruce
Kanwisher, Nancy
TI Differences in the right inferior longitudinal fasciculus but no general
disruption of white matter tracts in children with autism spectrum
disorder
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE diffusion-weighted imaging; connectivity
ID FUNCTIONAL CONNECTIVITY MRI; MOTION CORRECTION; SUBJECT MOTION; HEAD
MOTION; HUMAN BRAIN; CORTEX; REGISTRATION; PERCEPTION; DTI
AB One of the most widely cited features of the neural phenotype of autism is reduced "integrity" of long-range white matter tracts, a claim based primarily on diffusion imaging studies. However, many prior studies have small sample sizes and/or fail to address differences in data quality between those with autism spectrum disorder (ASD) and typical participants, and there is little consensus on which tracts are affected. To overcome these problems, we scanned a large sample of children with autism (n = 52) and typically developing children (n = 73). Data quality was variable, and worse in the ASD group, with some scans unusable because of head motion artifacts. When we follow standard data analysis practices (i.e., without matching head motion between groups), we replicate the finding of lower fractional anisotropy (FA) in multiple white matter tracts. However, when we carefully match data quality between groups, all these effects disappear except in one tract, the right inferior longitudinal fasciculus (ILF). Additional analyses showed the expected developmental increases in the FA of fiber tracts within ASD and typical groups individually, demonstrating that we had sufficient statistical power to detect known group differences. Our data challenge the widely claimed general disruption of white matter tracts in autism, instead implicating only one tract, the right ILF, in the ASD phenotype.
C1 [Koldewyn, Kami; Weigelt, Sarah; Gweon, Hyowon; Julian, Joshua; Richardson, Hilary; Malloy, Caitlin; Saxe, Rebecca; Kanwisher, Nancy] MIT, Dept Brain & Cognit Sci, Cambridge, MA 02139 USA.
[Koldewyn, Kami] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales.
[Yendiki, Anastasia; Fischl, Bruce] Massachusetts Gen Hosp, Dept Radiol, Athinoula A Martinos Ctr Biomed Imaging, Charlestown, MA 02129 USA.
[Yendiki, Anastasia; Fischl, Bruce] Harvard Univ, Sch Med, Charlestown, MA 02129 USA.
[Weigelt, Sarah] Ruhr Univ Bochum, Fak Psychol, D-44801 Bochum, Germany.
[Fischl, Bruce] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.
RP Koldewyn, K (reprint author), MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA.
EM k.koldewyn@bangor.ac.uk; ngk@mit.edu
FU Ellison Medical Foundation; Simons Foundation; National Center for
Research Resources Grant [U24 RR021382]; National Institute for
Biomedical Imaging and Bioengineering [5P41EB015896-15, R01EB006758];
National Institute on Aging [AG022381, 5R01AG008122-22]; National
Institutes of Health Blueprint for Neuroscience Research Grant
[5U01-MH093765]; multiinstitutional Human Connectome Project;
[1S10RR023401]; [1S10RR019307]; [1S10RR023043]
FX The authors thank the study participants and their families, including
those participating in the SFARI Simplex Collection and the Autism
Consortium, as well as the principle investigators at SFARI SSC sites.
We also thank the team at the Athinoula A. Martinos Imaging Center at
McGovern Institute for Brain Research, Massachusetts Institute of
Technology for their excellent technical support. This study was
supported by the Ellison Medical Foundation; a grant from the Simons
Foundation to the Simons Center for the Social Brain at Massachusetts
Institute of Technology; National Center for Research Resources Grant
U24 RR021382; National Institute for Biomedical Imaging and
Bioengineering Grants 5P41EB015896-15 and R01EB006758; National
Institute on Aging Grants AG022381 and 5R01AG008122-22; resources
provided by Shared Instrumentation Grants 1S10RR023401, 1S10RR019307,
and 1S10RR023043; and National Institutes of Health Blueprint for
Neuroscience Research Grant 5U01-MH093765, part of the
multiinstitutional Human Connectome Project.
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NR 42
TC 8
Z9 8
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 FEB 4
PY 2014
VL 111
IS 5
BP 1981
EP 1986
DI 10.1073/pnas.1324037111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 302FL
UT WOS:000330587600075
PM 24449864
ER
PT J
AU Skuse, DH
Lori, A
Cubells, JF
Lee, I
Conneely, KN
Puura, K
Lehtimaki, T
Binder, EB
Young, LJ
AF Skuse, David H.
Lori, Adriana
Cubells, Joseph F.
Lee, Irene
Conneely, Karen N.
Puura, Kaija
Lehtimaki, Terho
Binder, Elisabeth B.
Young, Larry J.
TI Common polymorphism in the oxytocin receptor gene (OXTR) is associated
with human social recognition skills
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID VASOPRESSIN RECEPTOR; SEQUENCE VARIATION; AUTISM; FACE; BEHAVIOR;
CHILDREN; BRAIN; POPULATION; ABILITY; HERITABILITY
AB The neuropeptides oxytocin and vasopressin are evolutionarily conserved regulators of social perception and behavior. Evidence is building that they are critically involved in the development of social recognition skills within rodent species, primates, and humans. We investigated whether common polymorphisms in the genes encoding the oxytocin and vasopressin 1a receptors influence social memory for faces. Our sample comprised 198 families, from the United Kingdom and Finland, in whom a single child had been diagnosed with high-functioning autism. Previous research has shown that impaired social perception, characteristic of autism, extends to the first-degree relatives of autistic individuals, implying heritable risk. Assessments of face recognition memory, discrimination of facial emotions, and direction of gaze detection were standardized for age (7-60 y) and sex. A common SNP in the oxytocin receptor (rs237887) was strongly associated with recognition memory in combined probands, parents, and siblings after correction for multiple comparisons. Homozygotes for the ancestral A allele had impairments in the range -0.6 to -1.15 SD scores, irrespective of their diagnostic status. Our findings imply that a critical role for the oxytocin system in social recognition has been conserved across perceptual boundaries through evolution, from olfaction in rodents to visual memory in humans.
C1 [Skuse, David H.; Lee, Irene] UCL, Inst Child Hlth, London WC1N 1EH, England.
[Skuse, David H.] Children Natl Hlth Serv Fdn Trust, Great Ormond St Hosp, Dept Child & Adolescent Mental Hlth, London WC1N 3JH, England.
[Lori, Adriana; Cubells, Joseph F.; Conneely, Karen N.; Binder, Elisabeth B.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA.
[Young, Larry J.] Emory Univ, Sch Med, Dept Psychiat & Behav Sci, Atlanta, GA 30322 USA.
[Puura, Kaija] Fimlab Labs, Dept Child Psychiat, SF-33100 Tampere, Finland.
[Lehtimaki, Terho] Univ Tampere, Fimlab Labs, Dept Clin Chem, SF-33101 Tampere, Finland.
[Lehtimaki, Terho] Tampere Univ Hosp, SF-33101 Tampere, Finland.
[Binder, Elisabeth B.] Max Planck Inst Psychiat, Dept Translat Res Psychiat & Stress Related Disor, D-80804 Munich, Germany.
[Young, Larry J.] Emory Univ, Yerkes Natl Primate Res Ctr, Ctr Translat Social Neurosci, Atlanta, GA 30329 USA.
RP Skuse, DH (reprint author), UCL, Inst Child Hlth, London WC1N 1EH, England.
EM d.skuse@ucl.ac.uk
RI Binder, Elisabeth/K-8905-2014
FU National Institutes of Health [MH056897, MH064692, 1P50MH100023]; Nancy
Lurie Marks Family Foundation; National Alliance for Autism Research;
National Center for Research Resources [P51RR165]; Office of Research
Infrastructure Programs [OD P51OD11132]
FX We thank Angie Wade, Will Mandy, John Morris, and Kate Lawrence, as well
as the many families and children who participated. The main body of
work was primarily supported by National Institutes of Health Grants
MH056897, MH064692, and 1P50MH100023 (to L.J.Y.) and Nancy Lurie Marks
Family Foundation and National Alliance for Autism Research grants (to
D.H.S.). Additional support was from National Center for Research
Resources Grant P51RR165 to Yerkes National Primate Research Center,
currently supported by the Office of Research Infrastructure Programs/OD
P51OD11132.
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NR 60
TC 17
Z9 17
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 FEB 4
PY 2014
VL 111
IS 5
BP 1987
EP 1992
DI 10.1073/pnas.1302985111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 302FL
UT WOS:000330587600076
PM 24367110
ER
PT J
AU Barua, S
Kuizon, S
Chadman, KK
Flory, MJ
Brown, WT
Junaid, MA
AF Barua, Subit
Kuizon, Salomon
Chadman, Kathryn K.
Flory, Michael J.
Brown, W. Ted
Junaid, Mohammed A.
TI Single-base resolution of mouse offspring brain methylome reveals
epigenome modifications caused by gestational folic acid
SO EPIGENETICS & CHROMATIN
LA English
DT Article
ID NEURAL-TUBE DEFECTS; AUTISM SPECTRUM DISORDERS; GENE-BODY METHYLATION;
NON-CPG METHYLATION; DNA METHYLATION; DEFICIENCY; EXPRESSION; FOLATE;
CELLS; PREGNANCY
AB Background: Epigenetic modifications, such as cytosine methylation in CpG-rich regions, regulate multiple functions in mammalian development. Maternal nutrients affecting one-carbon metabolism during gestation can exert long-term effects on the health of the progeny. Using C57BL/6 J mice, we investigated whether the amount of ingested maternal folic acid (FA) during gestation impacted DNA methylation in the offspring's cerebral hemispheres. Reduced representation bisulfite sequencing at single-base resolution was performed to analyze genome-wide DNA methylation profiles.
Results: We identified widespread differences in the methylation patterns of CpG and non-CpG sites of key developmental genes, including imprinted and candidate autism susceptibility genes (P <0.05). Such differential methylation of the CpG and non-CpG sites may use different mechanisms to alter gene expressions. Quantitative real time reverse transcription-polymerase chain reaction confirmed altered expression of several genes.
Conclusions: These finding demonstrate that high maternal FA during gestation induces substantial alteration in methylation pattern and gene expression of several genes in the cerebral hemispheres of the offspring, and such changes may influence the overall development. Our findings provide a foundation for future studies to explore the influence of gestational FA on genetic/epigenetic susceptibility to altered development and disease in offspring.
C1 [Barua, Subit; Kuizon, Salomon; Junaid, Mohammed A.] New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, Staten Isl, NY 10314 USA.
[Chadman, Kathryn K.] New York State Inst Basic Res Dev Disabil, Dept Dev Neurobiol, Staten Isl, NY 10314 USA.
[Flory, Michael J.] New York State Inst Basic Res Dev Disabil, Dept Infant Dev, Staten Isl, NY 10314 USA.
[Brown, W. Ted] New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA.
[Junaid, Mohammed A.] New York State Inst Basic Res Dev Disabil, Struct Neurobiol Lab, Dept Dev Biochem, Staten Isl, NY 10314 USA.
RP Junaid, MA (reprint author), New York State Inst Basic Res Dev Disabil, Dept Dev Biochem, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA.
EM mohammed.junaid@opwdd.ny.gov
FU March of Dimes Research Foundation [12-FY12-170]; New York State Office
for People With Developmental Disabilities
FX Financial support from the March of Dimes Research Foundation
(12-FY12-170) and the New York State Office for People With
Developmental Disabilities is gratefully acknowledged. We acknowledge
Maureen Marlow for help with editorial corrections with the manuscript.
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NR 61
TC 8
Z9 8
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-8935
J9 EPIGENET CHROMATIN
JI Epigenetics Chromatin
PD FEB 3
PY 2014
VL 7
AR 3
DI 10.1186/1756-8935-7-3
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA AD2UY
UT WOS:000333092300001
PM 24484737
ER
PT J
AU Weston, MC
Chen, HM
Swann, JW
AF Weston, Matthew C.
Chen, Hongmei
Swann, John W.
TI Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory
and inhibitory synaptic transmission in single hippocampal neuron
cultures
SO FRONTIERS IN MOLECULAR NEUROSCIENCE
LA English
DT Article
DE pten; TSC/mTOR; synaptic transmission; akt; excitatory transmission;
inhibitory transmission; epilepsy; autism
ID TUBEROUS SCLEROSIS COMPLEX; REGULATES NEUROTRANSMITTER RELEASE;
VESICULAR GLUTAMATE TRANSPORTER; LHERMITTE-DUCLOS-DISEASE; LONG-TERM
DEPRESSION; MOUSE MODEL; MAMMALIAN TARGET; IN-VIVO; RECEPTOR
TRAFFICKING; TENSIN HOMOLOG
AB The Pten and Tsc1 genes both encode proteins that repress mechanistic target of rapamycin (mTOR) signaling. Disruption of either gene in the brain results in epilepsy and autism-like symptoms in humans and mouse models, therefore it is important to understand the molecular and physiological events that lead from gene disruption to disease phenotypes. Given the similar roles these two molecules play in the regulation of cellular growth and the overlap in the phenotypes that result from their loss, we predicted that the deletion of either the Pten or Tsc1 gene from autaptic hippocampal neurons would have similar effects on neuronal morphology and synaptic transmission. Accordingly, we found that loss of either Pten or Tsc1 caused comparable increases in soma size, dendrite length and action potential properties. However, the effects of Pten and Tsc1 loss on synaptic transmission were different. Loss of Pten lead to an increase in both excitatory and inhibitory neurotransmission, while loss of Tsc1 did not affect excitatory neurotransmission and reduced inhibitory transmission by decreasing mIPSC amplitude. Although the loss of Pten or Tsc1 both increased downstream mTORC1 signaling, phosphorylation of Akt was increased in Pten-ko and decreased in Tsc1-ko neurons, potentially accounting for the different effects on synaptic transmission. Despite the different effects at the synaptic level, our data suggest that loss of Pten or Tsc1 may both lead to an increase in the ratio of excitation to inhibition at the network level, an effect that has been proposed to underlie both epilepsy and autism.
C1 [Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Jan & Dan Duncan Neurol Res Inst, Cain Fdn Labs, Houston, TX 77030 USA.
[Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA.
[Weston, Matthew C.; Chen, Hongmei; Swann, John W.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.
RP Swann, JW (reprint author), Jan & Dan Duncan Neurol Res Inst, Cain Fdn Labs, 1250MoursundStreet, Houston, TX 77030 USA.
EM jswann@bcm.edu
FU Epilepsy Foundation; NIH-NINDS [NS018309]
FX We would like to thank Dr, Amy Shore for critical reading of the
manuscript. This work was supported by a postdoctoral fellowship from
the Epilepsy Foundation (Matthew C. Weston) and by NIH-NINDS grant
NS018309 (John W. Swann),
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Wullschleger S, 2006, CELL, V127, P5, DOI 10.1016/j.cell.2006.01.016
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Zhang XC, 2012, BIOCHEM J, V444, P457, DOI 10.1042/BJ20120098
NR 61
TC 4
Z9 4
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 FEB 3
PY 2014
VL 7
AR 1
DI 10.3389/fnmol.2014.00001
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AZ0UF
UT WOS:000347959600001
PM 24574959
ER
PT J
AU Nadeau, JM
Arnold, EB
Storch, EA
Lewin, AB
AF Nadeau, Joshua M.
Arnold, Elysse B.
Storch, Eric A.
Lewin, Adam B.
TI Family Cognitive-Behavioral Treatment for a Child With Autism and
Comorbid Obsessive Compulsive Disorder
SO CLINICAL CASE STUDIES
LA English
DT Article
DE autism spectrum disorders (ASD); pediatric obsessive compulsive disorder
(OCD); cognitive behavioral therapy (CBT); school-age youth
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CONTROLLED-TRIAL;
ANXIETY DISORDERS; THERAPY; METAANALYSIS; ADOLESCENTS; YOUTH
AB Cognitive-behavioral therapy (CBT) with exposure/response prevention is effective among youth with autism spectrum disorders (ASDs) and comorbid anxiety symptoms. This case illustrates the application of a modularized family-based CBT approach with a school-aged boy with autistic disorder and comorbid obsessive-compulsive disorder (OCD). Following 16 family sessions over 21 weeks, "Jerry," a 9-year-old Caucasian male, showed significant reduction in obsessive-compulsive symptoms. Jerry's parents also reported improvements in emotional regulation, participation in school activities, and in his parent-child relationships. This case study illustrates the use of family-based CBT, which has been modified to account for social and behavioral deficits endemic to ASDs, for school-aged youth with autism and comorbid OCD.
C1 [Nadeau, Joshua M.; Storch, Eric A.; Lewin, Adam B.] Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA.
[Arnold, Elysse B.] Univ S Florida, St Petersburg, FL 33701 USA.
[Lewin, Adam B.] Univ S Florida, Dept Psychol, St Petersburg, FL 33701 USA.
[Lewin, Adam B.] Univ S Florida, Dept Psychiat Behav Neurosci, St Petersburg, FL 33701 USA.
RP Nadeau, JM (reprint author), Univ S Florida, Rothman Ctr Neuropsychiat, Dept Pediat, 880 6th St South,Box 7523, St Petersburg, FL 33701 USA.
EM jnadeau@health.usf.edu
CR Abramowitz JS, 2005, BEHAV THER, V36, P55, DOI 10.1016/S0005-7894(05)80054-1
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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Simonoff E., 2008, J AM ACAD CHILD ADOL, V47, P927
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White SW, 2009, CLIN PSYCHOL REV, V29, P216, DOI 10.1016/j.cpr.2009.01.003
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Wood JJ, 2006, J AM ACAD CHILD PSY, V45, P314, DOI 10.1097/01.chi.0000196425.88341.b0
NR 44
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 1534-6501
EI 1552-3802
J9 CLIN CASE STUD
JI Clin. Case Stud.
PD FEB
PY 2014
VL 13
IS 1
SI SI
BP 22
EP 36
DI 10.1177/1534650113504488
PG 15
WC Psychology, Clinical; Psychiatry
SC Psychology; Psychiatry
GA AW9OX
UT WOS:000346588000003
ER
PT J
AU Feizi, A
Najmi, B
Salesi, A
Chorami, M
Hoveidafar, R
AF Feizi, Awat
Najmi, Badroddin
Salesi, Aseih
Chorami, Maryam
Hoveidafar, Rezvan
TI Parenting stress among mothers of children with different physical,
mental, and psychological problems
SO JOURNAL OF RESEARCH IN MEDICAL SCIENCES
LA English
DT Article
DE Developmental disability; mental health; parenting stress; physical
chronic problem; psychological disorder
ID AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; DEPRESSION;
HEALTH; ASSOCIATIONS; PREDICTORS; TODDLERS; BEHAVIOR; MIDLIFE; CANCER
AB Background: Parents of children with developmental problems are always bearing a load of stress. The aim of this study is to compare the stress in mothers of children with different disabilities to each other, considering their demographic background. Materials and Methods: This was a cross-sectional study conducted in Isfahan, Iran during 2012 on 285 mothers of 6-12 years old children with chronic physical disease, psychological disorder, and sensory-motor and mental problems. Abedin's parenting stress questionnaire was used and obtained data were analyzed using multivariate analysis of variance or covariance as appropriate. Results: Mothers of children with sensory-motor mental and chronic physical problems experience more stress than mothers of children with psychological disorders (P < 0.05). The stress score of mothers of children with psychological disorders was lower than the other two groups. Also there was a significant difference between the score of mothers of children with chronic physical problems and mothers of children with psychological disorders regarding parent-child dysfunctional interaction (P < 0.01). A significant difference was observed in terms of stress among mothers of children with sensory-motor mental problems with different number of children (P < 0.05); also mothers of children with chronic physical problems in different levels of education have experienced different levels of parenting stress (P < 0.05) Conclusion: Due to high level of parenting stress among our studied samples, special education and early intervention are needed for parents in our study population in order to deepening their diagnostic knowledge and professional consultation on stress management
C1 [Feizi, Awat] Isfahan Univ Med Sci, Sch Hlth, Dept Biostat & Epidemiol, Esfahan, Iran.
[Najmi, Badroddin] Isfahan Univ Med Sci, Noor Med Ctr, Psychol Clin, Esfahan, Iran.
[Salesi, Aseih; Chorami, Maryam] Isfahan Univ, Sci & Res Branch Isfahan, Esfahan, Iran.
[Hoveidafar, Rezvan] Isfahan Univ, Dept Educ, Esfahan, Iran.
RP Najmi, B (reprint author), Noor Med Ctr, Psychol Clin, Esfahan, Iran.
EM nbbn1392@gmail.com
CR Armstrong N., 2009, HLTH RELATED QUALITY
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Waisbren SE, 2004, J PEDIATR PSYCHOL, V29, P565, DOI 10.1093/jpepsy/jsh058
NR 25
TC 1
Z9 1
PU ISFAHAN UNIV MED SCIENCES
PI ISFAHAN
PA HEZARJERIB AVE, PO BOX 81745-319, ISFAHAN, 00000, IRAN
SN 1735-1995
EI 1735-7136
J9 J RES MED SCI
JI J. Res. Med. Sci.
PD FEB
PY 2014
VL 19
IS 2
BP 145
EP 152
PG 8
WC Medicine, General & Internal
SC General & Internal Medicine
GA AQ4SI
UT WOS:000342789600011
PM 24778669
ER
PT J
AU Lingo, AS
AF Lingo, Amy Shearer
TI Tutoring Middle School Students with Disabilities by High School
Students: Effects on Oral Reading Fluency
SO EDUCATION AND TREATMENT OF CHILDREN
LA English
DT Article
DE Fluency; Repeated Readings; Peer Tutoring
ID COMPREHENSION; STRATEGIES; AUTISM; PEERS
AB This study evaluated the effectiveness of high school tutors' implementation of Great Leaps Reading (Campbell, 1998), a reading fluency supplementary instructional program. The program consists of three sections: phonics, sight word phrases, and story passages. Daily 15-minute tutoring sessions involved repeated 1-minute timings of oral reading, immediate feedback, and tutee participation in graphing their own fluency data. Four high school tutors and four sixth grade special education students with mild disabilities served as participants. Data were collected on the within-program phonics, sight phrases, and story passages. The generalization measure was oral reading fluency on grade-level expository reading material after every third session. One replication of a multiple probe design across students was used to evaluate the procedure. Results included successful program implementation by the tutors, improved oral reading fluency by the tutees, and positive reactions to the sessions by both groups of students.
C1 [Lingo, Amy Shearer] Univ Louisville, Louisville, KY 40292 USA.
RP Lingo, AS (reprint author), Univ Louisville, Dept Special Educ, Louisville, KY 40292 USA.
EM amy.lingo@louisville.edu
CR BELL KE, 1991, J APPL BEHAV ANAL, V24, P45, DOI 10.1901/jaba.1991.24-45
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Carnine D. W., 2004, DIRECT INSTRUCTION R
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NR 29
TC 0
Z9 0
PU WEST VIRGINIA UNIV PRESS
PI MORGANTOWN
PA COMMUNICATIONS BLDG PATTESON DR, PO BOX 6295, MORGANTOWN, WV 26506-6295
USA
SN 0748-8491
EI 1934-8924
J9 EDUC TREAT CHILD
JI Educ. Treat. Child.
PD FEB
PY 2014
VL 37
IS 1
BP 53
EP 76
PG 24
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AP0JL
UT WOS:000341747500003
ER
PT J
AU Barnes, JL
Bloom, P
AF Barnes, Jennifer L.
Bloom, Paul
TI Children's Preference for Social Stories
SO DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE social stories; fiction; development; theory of mind
ID FICTION; AUTISM; MIND
AB Many scholars have proposed theories to explain the appeal of fictional stories, but relatively little research has examined this issue from a developmental perspective. Here, we investigate the role that social and mental content play in attracting children to stories. In Experiment 1, 4- to 8-year-old children preferred stories that contained people over those that focused on objects. In Experiment 2, children preferred stories with mental content over stories that were described purely in terms of action, while in Experiment 3, children preferred stories with more characters to those with fewer but did not prefer stories that contained mental states embedded in other mental states. No age effects were found. These results are discussed in terms of theories of fiction, and directions are suggested for future research.
C1 [Barnes, Jennifer L.; Bloom, Paul] Yale Univ, Dept Psychol, New Haven, CT 06520 USA.
RP Barnes, JL (reprint author), Univ Oklahoma, Dept Psychol, 455 West Lindsey St, Norman, OK 73019 USA.
EM jenlynnbarnes@gmail.com
CR Alexander KJ, 2001, SOC DEV, V10, P374, DOI 10.1111/1467-9507.00171
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Baron-Cohen S, 1999, J AUTISM DEV DISORD, V29, P407, DOI 10.1023/A:1023035012436
Bloom P., 2010, PLEASURE WORKS
Boyd B., 2009, ORIGIN STORIES EVOLU
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Dutton D., 2009, ART INSTINCT
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Zunshine L., 2006, WHY WE READ THEORY M
NR 17
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0012-1649
EI 1939-0599
J9 DEV PSYCHOL
JI Dev. Psychol.
PD FEB
PY 2014
VL 50
IS 2
BP 498
EP 503
DI 10.1037/a0033613
PG 6
WC Psychology, Developmental
SC Psychology
GA AM5EF
UT WOS:000339878300018
PM 23815703
ER
PT J
AU Bello, A
Sparaci, L
Stefanini, S
Boria, S
Volterra, V
Rizzolatti, G
AF Bello, Arianna
Sparaci, Laura
Stefanini, Silvia
Boria, Sonia
Volterra, Virginia
Rizzolatti, Giacomo
TI A Developmental Study on Children's Capacity to Ascribe Goals and
Intentions to Others
SO DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE motor intention; mirror neurons; development; goal understanding
ID 6-AND 9-MONTH-OLD INFANTS; WILLIAMS-SYNDROME; ACTION ORGANIZATION;
PERCEPTION; OBJECT; IMPAIRMENT; AUTISM
AB The capacity to ascribe goals and intentions to others is a fundamental step in child cognitive development. The aim of the present study was to assess the age at which these capabilities are acquired in typically developing children. Two experiments were carried out. In the first experiment, 4 groups of children (age range = 3 years 2 months-7 years 11 months) were shown pictures representing hand-object interactions and asked what the individual was doing (what task) and why (why task). In the why task, observed handgrip could be either congruent with the most typical action performed with that object (e.g., to drink in the case of a mug) or corresponding to the act of putting away the object. In the second experiment, children saw pictures showing a handgrip either within a context suggesting the most typical use of the object or its being put away. Results showed that by 3-4 years, children are able to state the goal relatedness of an observed motor act (what understanding), whereas the ability to report the intention underlying it (why understanding) is a later and gradual acquisition, reaching a high performance by 6-7 years. These results, besides their intrinsic value, provide an important baseline for comparisons with studies on developmental disorders, also highlighting the relevance of distinguishing what and why understanding.
C1 [Bello, Arianna; Sparaci, Laura; Stefanini, Silvia; Boria, Sonia; Rizzolatti, Giacomo] Univ Parma, Dipartimento Neurosci, I-43100 Parma, Italy.
[Sparaci, Laura; Volterra, Virginia] Italian Natl Res Council, Inst Cognit Sci & Technol, Rome, Italy.
[Stefanini, Silvia; Boria, Sonia] Azienda Unita Sanit Locale, Local Hlth Unit, Dept Mental Hlth, Parma, Italy.
RP Bello, A (reprint author), Univ Parma, Dipartimento Neurosci, Via Volturno 39, I-43100 Parma, Italy.
EM aribello@unipr.it
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NR 30
TC 2
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0012-1649
EI 1939-0599
J9 DEV PSYCHOL
JI Dev. Psychol.
PD FEB
PY 2014
VL 50
IS 2
BP 504
EP 513
DI 10.1037/a0033375
PG 10
WC Psychology, Developmental
SC Psychology
GA AM5EF
UT WOS:000339878300019
PM 23772821
ER
PT J
AU Boutros, NN
Kirollos, SB
Pogarell, O
Gallinat, J
AF Boutros, Nash N.
Kirollos, Sandra B.
Pogarell, Oliver
Gallinat, Juergen
TI Predictive Value of Isolated Epileptiform Discharges for a Favorable
Therapeutic Response to Antiepileptic Drugs in Nonepileptic Psychiatric
Patients
SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Anticonvulsant drugs; Autistic spectrum disorders; Isolated epileptiform
discharges; Panic attacks; Violence; Learning disability
ID AUTISM SPECTRUM DISORDERS; ATYPICAL PANIC-ATTACKS; EEG ABNORMALITIES;
COGNITIVE IMPAIRMENT; AGGRESSIVE-BEHAVIOR; CLINICAL EPILEPSY; SODIUM
VALPROATE; OPEN TRIAL; CARBAMAZEPINE; PERSONALITY
AB The efficacy of antiepileptic drugs (AEDs) in treating behavioral symptoms in nonepileptic psychiatric patients with abnormal EEGs is currently unknown. Although isolated epileptiform discharges have been reported in many psychiatric conditions, they are most commonly observed in patients with aggression, panic, or autistic spectrum disorders. The literature search was guided by 3 criteria: (1) studies had patients who did not experience seizures, (2) patients had EEGs, and (3) an AED was administered. Most important finding is that the number of "controlled" studies was extremely small. Overall, most reports suggest that the use of an AED can be associated with clinical and, at times, improved EEG abnormalities. Additionally, six controlled studies were found for other psychiatric disorders, such as learning disabilities with similar results. Overall, the use of anticonvulsants to treat nonepileptic psychiatric patients needs further controlled studies to better define indications, adequate EEG work-up, best AED to be used, and optimal durations of treatment attempts.
C1 [Boutros, Nash N.] Univ Missouri, Dept Psychiat & Neurosci, Kansas City, MO 64108 USA.
[Kirollos, Sandra B.] Rutgers State Univ, New Brunswick, NJ 08903 USA.
[Pogarell, Oliver] Univ Munich, Dept Psychiat & Psychotherapy, Munich, Germany.
[Gallinat, Juergen] Charite, Clin Psychiat & Psychotherapy, St Hedwig Krankenhaus, D-13353 Berlin, Germany.
RP Boutros, NN (reprint author), Univ Missouri, Dept Psychiat & Neurosci, 1000 E 25th St, Kansas City, MO 64108 USA.
EM Nashaat.boutros@dmh.mo.gov
FU State of Michigan
FX Partially supported by the Joe Young funds from the State of Michigan to
the Department of Psychiatry and Behavioral Neurosciences of Wane State
University, School of Medicine.
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NR 72
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA
SN 0736-0258
EI 1537-1603
J9 J CLIN NEUROPHYSIOL
JI J. Clin. Neurophysiol.
PD FEB
PY 2014
VL 31
IS 1
BP 21
EP 30
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AJ0OF
UT WOS:000337353700003
PM 24492442
ER
PT J
AU Vurucu, S
Karaoglu, A
Paksu, SM
Oz, O
Yaman, H
Gulgun, M
Babacan, O
Unay, B
Akin, R
AF Vurucu, Sebahattin
Karaoglu, Abdulbaki
Paksu, Sukru M.
Oz, Oguzhan
Yaman, Halil
Gulgun, Mustafa
Babacan, Oguzhan
Unay, Bulent
Akin, Ridvan
TI Breath-Holding Spells May be Associated With Maturational Delay in
Myelination of Brain Stem
SO JOURNAL OF CLINICAL NEUROPHYSIOLOGY
LA English
DT Article
DE Breath-holding spells; Brain stem auditory evoked potentials; Child
ID AUDITORY-EVOKED-POTENTIALS; IRON-DEFICIENCY ANEMIA; SYSTEM; CHILDREN;
RESPONSES; CHILDHOOD; INFANCY; AUTISM
AB Purpose: To evaluate possible contribution of maturational delay of brain stem in the etiology of breath-holding spells in children using brain stem auditory evoked potentials.
Methods: The study group included children who experienced breath-holding spells. The control group consisted of healthy age-and sex-matched children. Age, gender, type and frequency of spell, hemoglobin, and ferritin levels in study group and brain stem auditory evoked potentials results in both groups were recorded. Study group was statistically compared with control group for brain stem auditory evoked potentials.
Results: The mean age of study and control groups was 26.3 +/- 14.6 and 28.9 +/- 13.9 months, respectively. The III-V and I-V interpeak latencies were significantly prolonged in the study group compared with the control group (2.07 +/- 0.2 milliseconds; 1.92 +/- 0.13 milliseconds and 4.00 +/- 0.27 milliseconds; 3.83 +/- 0.19 milliseconds; P = 0.009 and P = 0.03, respectively). At the same time, III-V and I-V interpeak latencies of patients without anemia in the study group compared with those of control group were significantly prolonged (2.09 +/- 0.24 milliseconds; 1.92 +/- 0.13 milliseconds and 4.04 +/- 0.28 milliseconds; 3.83 +/- 0.19 milliseconds; P = 0.007 and P = 0.01, respectively).
Conclusions: Our results consider that maturational delay in myelination of brain stem may have a role in the etiology of breath-holding spells in children.
C1 [Vurucu, Sebahattin; Unay, Bulent; Akin, Ridvan] Gulhane Mil Med Fac, Dept Pediat Neurol, TR-06018 Ankara, Turkey.
[Karaoglu, Abdulbaki; Gulgun, Mustafa; Babacan, Oguzhan] Gulhane Mil Med Fac, Dept Pediat, TR-06018 Ankara, Turkey.
[Paksu, Sukru M.] Ondokuz Mayis Univ, Dept Pediat, Fac Med, Samsun, Turkey.
[Oz, Oguzhan] Gulhane Mil Med Fac, Dept Neurol, TR-06018 Ankara, Turkey.
[Yaman, Halil] Gulhane Mil Med Fac, Dept Biochem, TR-06018 Ankara, Turkey.
RP Karaoglu, A (reprint author), Gulhane Mil Med Fac, Dept Pediat, TR-06018 Ankara, Turkey.
EM akaraoglu@gata.edu.tr
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NR 25
TC 1
Z9 1
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 FEB
PY 2014
VL 31
IS 1
BP 99
EP 101
PG 3
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AJ0OF
UT WOS:000337353700014
PM 24492453
ER
PT J
AU Khan, D
Fernando, P
Cicvaric, A
Berger, A
Pollak, A
Monje, FJ
Pollak, DD
AF Khan, D.
Fernando, P.
Cicvaric, A.
Berger, A.
Pollak, A.
Monje, F. J.
Pollak, D. D.
TI Long-term effects of maternal immune activation on depression-like
behavior in the mouse
SO TRANSLATIONAL PSYCHIATRY
LA English
DT Article
DE depression; hippocampal neurogenesis; maternal immune activation; VEGF
ID ADULT HIPPOCAMPAL NEUROGENESIS; ENDOTHELIAL GROWTH-FACTOR; PRENATAL
EXPOSURE; MOOD DISORDERS; NEUROTROPHIC FACTORS; BRAIN-DEVELOPMENT;
ANIMAL-MODELS; RISK-FACTOR; MICE LEADS; SCHIZOPHRENIA
AB Depression is a debilitating mental disease affecting a large population worldwide, the pathophysiological mechanisms of which remain incompletely understood. Prenatal infection and associated activation of the maternal immune system (MIA) are prominently related to an increased risk for the development of several psychiatric disorders including schizophrenia and autism in the offsprings. However, the role of MIA in the etiology of depression and its neurobiological basis are insufficiently investigated. Here we induced MIA in mice by challenge with polyinosinic: polycytidylic phosphate salt-a synthetic analog of double-stranded RNA, which enhances maternal levels of the cytokine interleukin-6 (IL-6)-and demonstrate a depression-like behavioral phenotype in adult offsprings. Adult offsprings additionally show deficits in cognition and hippocampal long-term potentiation (LTP) accompanied by disturbed proliferation of newborn cells in the dentate gyrus and compromised neuronal maturation and survival. The behavioral, neurogenic and functional deficiencies observed are associated with reduced hippocampal expression of vascular endothelial growth factor (VEGF)A-VEGFR2. IL-6-STAT3-dependent aberrant VEGFA-VEGFR2 signaling is proposed as neurobiological mechanism mediating the effects of MIA on the developing fetal brain and ensuing consequences in adulthood.
C1 [Khan, D.; Fernando, P.; Cicvaric, A.; Monje, F. J.; Pollak, D. D.] Med Univ Vienna, Ctr Physiol & Pharmacol, Dept Neurophysiol & Neuropharmacol, A-1090 Vienna, Austria.
[Berger, A.; Pollak, A.] Med Univ Vienna, Dept Pediat & Adolescent Med, A-1090 Vienna, Austria.
RP Pollak, DD (reprint author), Med Univ Vienna, Ctr Physiol & Pharmacol, Dept Neurophysiol & Neuropharmacol, Schwarzspanierstr 17, A-1090 Vienna, Austria.
EM daniela.pollak@meduniwien.ac.at
FU Austrian Science Fund (FWF) [P22424]; Verein zur Foerderung der
Forschung auf dem Gebiet der Neonatologie und paediatrischen
Intensivmedizin
FX DDP is supported by the Austrian Science Fund (FWF): P22424 and member
of the special research network (SFB) 35. DK received a fellowship from
'Verein zur Foerderung der Forschung auf dem Gebiet der Neonatologie und
paediatrischen Intensivmedizin'.
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NR 73
TC 6
Z9 6
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 FEB
PY 2014
VL 4
AR e363
DI 10.1038/tp.2013.132
PG 8
WC Psychiatry
SC Psychiatry
GA AJ2RP
UT WOS:000337508200008
PM 24548878
ER
PT J
AU Carbonetto, S
AF Carbonetto, Salvatore
TI A Blueprint for Research on Shankopathies: A View From Research on
Autism Spectrum Disorder
SO DEVELOPMENTAL NEUROBIOLOGY
LA English
DT Article
DE Shank3; autism; synaptic genes; neurodevelopmental disorders
ID FRAGILE-X-SYNDROME; POSTSYNAPTIC DENSITY PROTEINS; 22Q13 DELETION
SYNDROME; DEPENDENT SYNAPTIC PLASTICITY; MAJOR PSYCHIATRIC-DISORDERS;
MESSENGER-RNA TRANSLATION; MGLU5 RECEPTOR ANTAGONIST; PLURIPOTENT
STEM-CELLS; LONG-TERM POTENTIATION; COPY NUMBER VARIATION
AB Autism spectrum disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (C) 2013 Wiley Periodicals, Inc.
C1 McGill Univ, Ctr Hlth, Dept Neurol, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada.
RP Carbonetto, S (reprint author), McGill Univ, Ctr Hlth, Dept Neurol, Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada.
EM sal.carbonetto@mcgill.ca
FU CIHR; NSERC
FX Contract grant sponsors: CIHR and NSERC.
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NR 271
TC 1
Z9 1
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 FEB
PY 2014
VL 74
IS 2
SI SI
BP 85
EP 112
DI 10.1002/dneu.22150
PG 28
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AJ3EA
UT WOS:000337547300002
PM 24218108
ER
PT J
AU Herlihy, LE
Brooks, B
Dumont-Mathieu, T
Barton, ML
Fein, D
Chen, CM
Robins, DL
AF Herlihy, Lauren E.
Brooks, Bianca
Dumont-Mathieu, Thyde
Barton, Marianne L.
Fein, Deborah
Chen, Chi-Ming
Robins, Diana L.
TI Standardized Screening Facilitates Timely Diagnosis of Autism Spectrum
Disorders in a Diverse Sample of Low-Risk Toddlers
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE M-CHAT; autism screening; socioeconomic status
ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; CHILDREN;
DISPARITIES; HEALTH
AB Objective: Routine, standardized screening for autism spectrum disorder (ASD) has been hypothesized to reduce known racial/ethnic and socioeconomic status (SES) disparities in age of first diagnosis. This study explored demographic differences in toddlers' age and performance on developmental measures at the time of ASD assessment. Method: Toddlers (16-39 months at evaluation) who screened at-risk for developmental delay on the Modified Checklist for Autism in Toddlers (M-CHAT) or M-CHAT-Revised (M-CHAT-R) and follow-up interview participated in a diagnostic assessment. Of these, 44.7% were racial/ethnic minorities and 53.5% were non-minorities. Child race/ethnicity, years of maternal education (MEd), and household yearly income (YI) were parent-reported. Results: Small but significant correlations were observed between MEd or YI and evaluation age and adaptive communication, socialization, and motor scores. Controlling for MEd and YI, minority racial/ethnic group did not predict child's performance on most measures and did not predict likelihood of ASD diagnosis. Differences in age at evaluation and receptive language skills were small effects. Conclusion: Significant but small effects emerged for SES and minority status on toddlers' age at evaluation and parent-reported adaptive skills, but these did not predict ASD diagnosis. The small magnitude of these effects suggests that routine, standardized screening for ASD in toddlers and timely access to diagnostic evaluation can reduce disparities in age at diagnosis and possibly reduce racial/ethnic disparities in access to services for ASD and other developmental delays.
C1 [Herlihy, Lauren E.; Dumont-Mathieu, Thyde; Barton, Marianne L.; Fein, Deborah; Chen, Chi-Ming] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA.
[Brooks, Bianca; Robins, Diana L.] Georgia State Univ, Dept Clin Psychol, Atlanta, GA 30303 USA.
[Brooks, Bianca; Robins, Diana L.] Georgia State Univ, Dept Neurosci, Atlanta, GA 30303 USA.
RP Herlihy, LE (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,Unit 1020, Storrs, CT 06269 USA.
EM lauren.herlihy@uconn.edu
FU National Institutes of Health (NIH) [HD39961, F31 MH12550, R40 MC00270];
Department of Education; National Alliance for Autism Research; CDC-GSU
FX D.L. Robins is co-owner of M-CHAT LLC, which licenses use of the M-CHAT
in electronic products. Data used in the current study were collected
using the free version of the M-CHAT and no royalties are associated
with this study. M. L. Barton and D. Fein are co-owners of the M-CHAT
LLC, and donate their proceeds to the University Foundation and
Psychological Services Clinic. The remaining authors declare no conflict
of interest. This study is supported by current National Institutes of
Health (NIH) Grant HD39961, past NIH Grants F31 MH12550 and R40 MC00270,
past grants from the Department of Education, the National Alliance for
Autism Research, and CDC-GSU.
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NR 32
TC 1
Z9 1
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD FEB-MAR
PY 2014
VL 35
IS 2
BP 85
EP 92
PG 8
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AI4QL
UT WOS:000336849800057
PM 24509053
ER
PT J
AU Fellinger, J
Holzinger, D
AF Fellinger, Johannes
Holzinger, Daniel
TI Creating Innovative Clinical and Service Models for Communication:
Institut fuer Sinnes- und Sprachneurologie
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE communication; language disorder; deafness; autism; services
ID QUALITY-OF-LIFE; MENTAL-HEALTH; HEARING IMPAIRMENTS; DEAF; DISTRESS;
CHILDREN; PEOPLE
AB Disorders that affect communication are multifaceted and have significant impact throughout the life cycle, leading to different needs at different stages of life. This article describes the development of a comprehensive program that provides services for the whole range of patients with communication and problems over the life span.
C1 [Fellinger, Johannes; Holzinger, Daniel] Hosp St John God, Inst Neurol Senses & Language, Linz, Austria.
RP Fellinger, J (reprint author), Inst Sinnes & Sprachneurol, Bischofstr 11, A-4021 Linz, Austria.
EM johannes.fellinger@bblinz.at
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NR 12
TC 0
Z9 0
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0196-206X
EI 1536-7312
J9 J DEV BEHAV PEDIATR
JI J. Dev. Behav. Pediatr.
PD FEB-MAR
PY 2014
VL 35
IS 2
BP 148
EP 153
PG 6
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AI4QL
UT WOS:000336849800066
PM 24509058
ER
PT J
AU Dadds, MR
Moul, C
Cauchi, A
Dobson-Stone, C
Hawes, DJ
Brennan, J
Urwin, R
Ebstein, RE
AF Dadds, Mark R.
Moul, Caroline
Cauchi, Avril
Dobson-Stone, Carol
Hawes, David J.
Brennan, John
Urwin, Ruth
Ebstein, Richard E.
TI Polymorphisms in the oxytocin receptor gene are associated with the
development of psychopathy
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID CALLOUS-UNEMOTIONAL TRAITS; GENOME-WIDE ASSOCIATION; CONDUCT PROBLEMS;
PSYCHIATRIC-DISORDERS; OXTR POLYMORPHISMS; JAPANESE POPULATION;
ANTISOCIAL-BEHAVIOR; 5-HTT GENES; AUTISM; CHILDHOOD
AB The co-occurrence of child conduct problems (CPs) and callous-unemotional (CU) traits confers risk for psychopathy. The oxytocin (OXT) system is a likely candidate for involvement in the development of psychopathy. We tested variations in the OXT receptor gene (OXTR) in CP children and adolescents with varying levels of CU traits. Two samples of Caucasian children, aged 4-16 years, who met DSM criteria for disruptive behavior problems and had no features of autism spectrum disorder, were stratified into low versus high CU traits. Measures were the frequencies of nine candidate OXTR polymorphisms (single nucleotide polymorphisms). In Sample 1, high CU traits were associated with single nucleotide polymorphism rs1042778 in the 3 untranslated region of OXTR and the CGCT haplotype of rs2268490, rs2254298, rs237889, and rs13316193. The association of rs1042778 was replicated in the second rural sample and held across gender and child versus adolescent age groups. We conclude that polymorphic variation of the OXTR characterizes children with high levels of CU traits and CPs. The results are consistent with a hypothesized role of OXT in the developmental antecedents of psychopathy, particularly the differential amygdala activation model of psychopathic traits, and add genetic evidence that high CU traits specify a distinct subgroup within CP children.
C1 [Dadds, Mark R.; Moul, Caroline; Cauchi, Avril; Dobson-Stone, Carol] Univ New S Wales, Sydney, NSW 2052, Australia.
[Hawes, David J.] Univ Sydney, Sydney, NSW 2006, Australia.
[Brennan, John] Sydney Childrens Hosp, Sydney, NSW, Australia.
[Urwin, Ruth] Childrens Hosp, Westmead, NSW, Australia.
[Ebstein, Richard E.] Natl Univ Singapore, Singapore 117548, Singapore.
RP Dadds, MR (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
EM m.dadds@unsw.edu.au
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NR 82
TC 2
Z9 2
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
EI 1469-2198
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD FEB
PY 2014
VL 26
IS 1
BP 21
EP 31
DI 10.1017/S0954579413000485
PG 11
WC Psychology, Developmental
SC Psychology
GA AD0UV
UT WOS:000332950500002
PM 24059750
ER
PT J
AU Dadds, MR
Moul, C
Cauchi, A
Dobson-Stone, C
Hawes, DJ
Brennan, J
Ebstein, RE
AF Dadds, Mark R.
Moul, Caroline
Cauchi, Avril
Dobson-Stone, Carol
Hawes, David J.
Brennan, John
Ebstein, Richard E.
TI Methylation of the oxytocin receptor gene and oxytocin blood levels in
the development of psychopathy
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID CALLOUS-UNEMOTIONAL TRAITS; CONDUCT PROBLEMS; DNA METHYLATION;
PSYCHIATRIC-DISORDERS; ANTISOCIAL-BEHAVIOR; SPECTRUM DISORDER;
CHILDHOOD; EMPATHY; AUTISM; BRAIN
AB Child conduct problems (CPs) are a robust predictor of adult mental health; the concurrence of callous-unemotional (CU) traits confers specific risk for psychopathy. Psychopathy may be related to disturbances in the oxytocin (OXT) system. Evidence suggests that epigenetic changes in the OXT receptor gene (OXTR) are associated with lower circulating OXT and social-cognitive difficulties. We tested methylation levels of OXTR in 4- to 16-year-old males who met DSM criteria for a diagnosis of oppositional-defiant or conduct disorder and were stratified by CU traits and age. Measures were DNA methylation levels of six CpG sites in the promoter region of the OXTR gene (where a CpG site is a cytosine nucleotide occurs next to a guanine nucleotide in the linear sequence of bases along its lenth, linked together by phosphate binding), and OXT blood levels. High CU traits were associated with greater methylation of the OXTR gene for two cytosine nucleotide and guanine nucleotide phosphate linked sites and lower circulating OXT in older males. Higher methylation correlated with lower OXT levels. We conclude that greater methylation of OXTR characterizes adolescent males with high levels of CU and CPs, and this methylation is associated with lower circulating OXT and functional impairment in interpersonal empathy. The results add genetic evidence that high CU traits specify a distinct subgroup within CP children, and they suggest models of psychopathy may be informed by further identification of these epigenetic processes and their functional significance.
C1 [Dadds, Mark R.; Moul, Caroline; Cauchi, Avril; Dobson-Stone, Carol] Univ New S Wales, Sydney, NSW 2052, Australia.
[Hawes, David J.] Univ Sydney, Sydney, NSW 2006, Australia.
[Brennan, John] Sydney Childrens Hosp, Sydney, NSW, Australia.
[Ebstein, Richard E.] Natl Univ Singapore, Singapore 117548, Singapore.
RP Dadds, MR (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia.
EM m.dadds@unsw.edu.au
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NR 61
TC 6
Z9 6
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
EI 1469-2198
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD FEB
PY 2014
VL 26
IS 1
BP 33
EP 40
DI 10.1017/S0954579413000497
PG 8
WC Psychology, Developmental
SC Psychology
GA AD0UV
UT WOS:000332950500003
PM 24059811
ER
PT J
AU Thurm, A
Manwaring, SS
Luckenbaugh, DA
Lord, C
Swedo, SE
AF Thurm, Audrey
Manwaring, Stacy S.
Luckenbaugh, David A.
Lord, Catherine
Swedo, Susan E.
TI Patterns of skill attainment and loss in young children with autism
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID SPECTRUM DISORDERS; DEVELOPMENTAL REGRESSION; LANGUAGE REGRESSION; HOME
VIDEOTAPES; ONSET PATTERNS; AGE; INFANTS; COMMUNICATION; BRAIN;
RECOGNITION
AB The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD.
C1 [Thurm, Audrey; Luckenbaugh, David A.; Swedo, Susan E.] NIMH, Bethesda, MD 20892 USA.
[Manwaring, Stacy S.] Univ Utah, Salt Lake City, UT 84112 USA.
[Lord, Catherine] Cornell Univ, Ithaca, NY 14853 USA.
RP Thurm, A (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr,MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA.
EM athurm@mail.nih.gov
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NR 53
TC 0
Z9 0
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
EI 1469-2198
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD FEB
PY 2014
VL 26
IS 1
BP 203
EP 214
DI 10.1017/S0954579413000874
PG 12
WC Psychology, Developmental
SC Psychology
GA AD0UV
UT WOS:000332950500014
PM 24274034
ER
PT J
AU Goddard, L
Dritschel, B
Robinson, S
Howlin, P
AF Goddard, Lorna
Dritschel, Barbara
Robinson, Sally
Howlin, Patricia
TI Development of autobiographical memory in children with autism spectrum
disorders: Deficits, gains, and predictors of performance
SO DEVELOPMENT AND PSYCHOPATHOLOGY
LA English
DT Article
ID LATENT-VARIABLE ANALYSIS; TRAUMATIC BRAIN-INJURY; ASPERGER-SYNDROME;
EXECUTIVE FUNCTION; EPISODIC MEMORY; EMOTION RECOGNITION; OVERGENERAL
MEMORY; SELF-RECOGNITION; PERSONAL EVENTS; MIND
AB Autobiographical memory (AM) was assessed in 63 children (aged 8-17 years) with an autism spectrum disorder (ASD) and compared with 63 typically developing children matched for age, gender, IQ, and verbal ability. A range of methodologies was employed for eliciting past experience with particular focus on the ability to recall (a) specific events, (b) the recent and remote past, and (c) semantic versus episodic memories across different lifetime periods. Results indicated that the ASD group manifested difficulties in retrieving specific memories to word cues and had poorer access to the remote past. Deficits were found in the context of intact recent memory and preserved general memory abilities, with some impairment of visual memory. Problems in retrieving episodic and semantic AMs across the life span were also evident. Qualitative analysis of memory reports suggested that the ASD group was less likely to refer to emotion in their remote memories but more likely to describe emotions in their recent memories. Important predictors of AM performance in the ASD group were central executive abilities, in particular cognitive flexibility and verbal fluency.
C1 [Goddard, Lorna] Univ London, London SE14 6NW, England.
[Dritschel, Barbara] Univ St Andrews, St Andrews KY16 9AJ, Fife, Scotland.
[Robinson, Sally; Howlin, Patricia] Kings Coll London, London WC2R 2LS, England.
RP Goddard, L (reprint author), Univ London, Dept Psychol, London SE14 6NW, England.
EM l.goddard@gold.ac.uk
RI Howlin, Patricia/A-7622-2011
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NR 75
TC 4
Z9 4
PU CAMBRIDGE UNIV PRESS
PI NEW YORK
PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA
SN 0954-5794
EI 1469-2198
J9 DEV PSYCHOPATHOL
JI Dev. Psychopathol.
PD FEB
PY 2014
VL 26
IS 1
BP 215
EP 228
DI 10.1017/S0954579413000904
PG 14
WC Psychology, Developmental
SC Psychology
GA AD0UV
UT WOS:000332950500015
PM 24284059
ER
PT J
AU Roy, A
Shepherd, SV
Platt, ML
AF Roy, Arani
Shepherd, Stephen V.
Platt, Michael L.
TI Reversible inactivation of pSTS suppresses social gaze following in the
macaque (Macaca mulatta)
SO SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE
LA English
DT Article
DE gaze following; joint attention; superior temporal sulcus;
face-selective neurons; autism
ID SUPERIOR TEMPORAL SULCUS; EYE GAZE; PARIETAL CORTEX; JOINT ATTENTION;
MONKEYS; AUTISM; DIRECTION; AMYGDALA; PERCEPTION; SYSTEM
AB Humans and other primates shift their attention to follow the gaze of others [gaze following (GF)]. This behavior is a foundational component of joint attention, which is severely disrupted in neurodevelopmental disorders such as autism and schizophrenia. Both cortical and subcortical pathways have been implicated in GF, but their contributions remain largely untested. While the proposed subcortical pathway hinges crucially on the amygdala, the cortical pathway is thought to require perceptual processing by a region in the posterior superior temporal sulcus (pSTS). To determine whether pSTS is necessary for typical GF behavior, we engaged rhesus macaques in a reward discrimination task confounded by leftward-and rightward-facing social distractors following saline or muscimol injections into left pSTS. We found that reversible inactivation of left pSTS with muscimol strongly suppressed GF, as assessed by reduced influence of observed gaze on target choices and saccadic reaction times. These findings demonstrate that activity in pSTS is required for normal GF by primates.
C1 [Roy, Arani; Shepherd, Stephen V.; Platt, Michael L.] Duke Univ, Dept Neurobiol, Durham, NC 27710 USA.
[Roy, Arani; Shepherd, Stephen V.; Platt, Michael L.] Duke Univ, Duke Inst Brain Sci, Durham, NC 27710 USA.
[Roy, Arani] Brandeis Univ, Dept Biol, Waltham, MA 02454 USA.
[Shepherd, Stephen V.] Rockefeller Univ, New York, NY 10065 USA.
RP Roy, A (reprint author), Brandeis Biol, 415 South St,M-S 008, Waltham, MA 02454 USA.
EM araniroy@brandeis.edu
FU National Institute of Mental Health [1R01-MH-086712-01, 5-R03
MH066259-02]; Autism Speaks Foundation
FX This work was supported by the National Institute of Mental Health
[grants 1R01-MH-086712-01 and 5-R03 MH066259-02 to M. L. P]; and two
grants from the Autism Speaks Foundation.
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NR 51
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 FEB
PY 2014
VL 9
IS 2
BP 209
EP 217
DI 10.1093/scan/nss123
PG 9
WC Neurosciences; Psychology; Psychology, Experimental
SC Neurosciences & Neurology; Psychology
GA AH9UE
UT WOS:000336488000010
PM 23171617
ER
PT J
AU Chuthapisith, J
Taycharpipranai, P
Roongpraiwan, R
Ruangdaraganon, N
AF Chuthapisith, Jariya
Taycharpipranai, Pasinee
Roongpraiwan, Rawiwan
Ruangdaraganon, Nichara
TI Translation and validation of the Children's Communication Checklist to
evaluate pragmatic language impairment in Thai children
SO PEDIATRICS INTERNATIONAL
LA English
DT Article
ID DEVELOPMENTAL DISORDERS; AUTISM; SPECTRUM; DIFFERENTIATE; INDIVIDUALS;
VINELAND; DEFICITS
C1 [Chuthapisith, Jariya; Taycharpipranai, Pasinee; Roongpraiwan, Rawiwan; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Dept Pediat, Div Dev & Behav Pediat, Bangkok 10700, Thailand.
[Taycharpipranai, Pasinee] Somdejprapinklao Hosp, Dept Pediat, Bangkok, Thailand.
RP Chuthapisith, J (reprint author), Ramathibodi Hosp, Dept Pediat, Div Dev & Behav Pediat, Rama 6 Rd, Bangkok 10400, Thailand.
EM kositprapa@hotmail.com
FU Faculty of Medicine, Ramathibodi Hospital, Bangkok, Thailand
FX This study was conducted with the financial support of the Faculty of
Medicine, Ramathibodi Hospital, Bangkok, Thailand. We gratefully
acknowledge Dr Bishop for giving permission to use the CCC in the
current study. We gratefully acknowledge the contributions of Miss
Suparat Ditbanjong for assistance with statistical analysis; Miss
Sauwanee Thaowan, clinical psychologist; Miss Ponjit Jithavech,
Department of Communication Sciences and Disorders; Dr Theeraporn
Ratitamkul, Department of Linguistics, Faculty of Arts, Chulalongkorn
University and Dr Unchalee Lodin for assistance with the manuscript.
This study would not have been possible without the support of the
families and children who donated their time to participate in this
study.
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NR 16
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1328-8067
EI 1442-200X
J9 PEDIATR INT
JI Pediatr. Int.
PD FEB
PY 2014
VL 56
IS 1
BP 31
EP 34
PG 4
WC Pediatrics
SC Pediatrics
GA AA8UF
UT WOS:000331369800006
PM 24003938
ER
PT J
AU Mehta, D
Iwamoto, K
Ueda, J
Bundo, M
Adati, N
Kojima, T
Kato, T
AF Mehta, Divya
Iwamoto, Kazuya
Ueda, Junko
Bundo, Miki
Adati, Naoki
Kojima, Toshio
Kato, Tadafumi
TI Comprehensive survey of CNVs influencing gene expression in the human
brain and its implications for pathophysiology
SO NEUROSCIENCE RESEARCH
LA English
DT Article
DE Copy number variation (CNV); Human post-mortem brains; Schizophrenia;
Bipolar disorder; Transcriptome; Genomics
ID COPY-NUMBER VARIATION; PSYCHIATRIC-DISORDERS; STRUCTURAL VARIATION;
BIPOLAR DISORDER; INCREASE RISK; HUMAN-DISEASE; SCHIZOPHRENIA;
ASSOCIATION; AUTISM; GENOME
AB Copy number variations (CNVs) contribute to neuropsychiatric diseases, which may be partly mediated by their effects on gene expression. However, few studies have assessed the influence of CNVs on gene expression in the brain. The objective was to perform an unbiased comprehensive survey of influence of CNVs on gene expression in human brain tissues. CNV regions (CNVRs) were identified in 72 individuals (23 schizophrenia, 23 bipolar disorder and 26 controls). Significant associations between the CNVRs and gene expression levels were observed for 583 CNVR-expression probe pairs (293 unique eCNVRs and 429 unique transcripts), after corrections for multiple testing and controlling the effect of the number of subjects with CNVRs by label swapping permutations. These CNVRs affecting gene expression (eCNVRs) were significantly enriched for rare/low frequency (p = 1.087 x 10(-10)) and gene-harboring CNVRs (p = 1.4 x 10(-6)). Transcripts overlapping CNVRs were significantly enriched for glutathione metabolism and oxidative stress only for cases but not for controls. Moreover, 72 (24.6%) of eCNVRs were located within the chromosomal aberration regions implicated in psychiatric-disorders: 16p11.2, 1q21.1, 22q11.2, 3q29, 15q11.2, 17q12 and 16p13.1. These results shed light on the mechanism of how CNVs confer a risk for psychiatric disorders. (C) 2013 The Authors. Published by Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.
C1 [Mehta, Divya] Max Planck Inst Psychiat, D-80804 Munich, Germany.
[Mehta, Divya; Ueda, Junko; Kato, Tadafumi] RIKEN, Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan.
[Iwamoto, Kazuya; Bundo, Miki] Univ Tokyo, Grad Sch Med, Dept Mol Psychiat, Tokyo 1138654, Japan.
[Adati, Naoki; Kojima, Toshio] RIKEN, Genom Sci Ctr, Comparat Syst Biol Team, Yokohama, Kanagawa 2300045, Japan.
RP Kato, T (reprint author), RIKEN, Brain Sci Inst, Lab Mol Dynam Mental Disorders, Hirosawa 2-1, Wako, Saitama 3510198, Japan.
EM kato@brain.riken.jp
RI Kato, Tadafumi/J-3583-2014
OI Kato, Tadafumi/0000-0001-7856-3952
FU Ministry of Education, Science, Sports and Culture of Japan; Ministry of
Health, Labour and Welfare; CREST from the Japan Science and Technology
Agency
FX This study is supported by a Grant-in-aid for Scientific Research on
Innovative Areas (Comprehensive Brain Science Network) from the Ministry
of Education, Science, Sports and Culture of Japan, Grant-in-aid from
Ministry of Health, Labour and Welfare, and CREST from the Japan Science
and Technology Agency.
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NR 31
TC 3
Z9 3
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 FEB
PY 2014
VL 79
BP 22
EP 33
DI 10.1016/j.neures.2013.10.009
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA AE5CG
UT WOS:000334004800003
PM 24211644
ER
PT J
AU Luk, HM
Wong, VCH
Lo, IFM
Chan, KYK
Lau, ET
Kan, ASY
Tang, MHY
Tang, WF
She, WMK
Chu, YWY
Sin, WK
Chung, BHY
AF Luk, H. M.
Wong, Vincent C. H.
Lo, Ivan F. M.
Chan, Kelvin Y. K.
Lau, Elizabeth T.
Kan, Anita S. Y.
Tang, Mary H. Y.
Tang, W. F.
She, Wandy M. K.
Chu, Yoyo W. Y.
Sin, W. K.
Chung, Brian H. Y.
TI A prenatal case of split-hand malformation associated with 17p13.3
triplication - A dilemma in genetic counseling
SO EUROPEAN JOURNAL OF MEDICAL GENETICS
LA English
DT Article
DE 17p13.3 copy number gain; Split hand malformation; Developmental delay;
Autism; Prenatal diagnosis
ID HAND/FOOT MALFORMATION; MICRODUPLICATIONS; SHFLD
AB Copy number gain of 17p13.3 has been shown to be associated with developmental delay/autism and Split-Hand-Foot malformation. We report a case of fetus with bilateral split-hand malformation detected on prenatal ultrasound. Array comparative genomic hybridization detected 2 maternally inherited copy number gains in the 17p13.3 region with one of them involving the BHLHA9 gene and part of the YWHAE gene. The mother is normal in intelligence with mild right foot anomaly only. Although the BHLHA9 copy gain is known to be associated with split-hand-foot malformation, the penetrance and expressivity is highly variable. More challenging is the effect of partial YWHAE copy number gain on neurodevelopment is inconclusive based on current literature. This case highlights the difficulties of prenatal genetic counseling in array comparative genomic hybridization findings in clinical situation with incomplete understanding of genotype-phenotype correlation. (C) 2013 Elsevier Masson SAS. All rights reserved.
C1 [Luk, H. M.; Lo, Ivan F. M.] Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China.
[Wong, Vincent C. H.; She, Wandy M. K.; Chu, Yoyo W. Y.; Chung, Brian H. Y.] Univ Hong Kong, Li Ka Shing Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
[Chan, Kelvin Y. K.; Lau, Elizabeth T.; Kan, Anita S. Y.; Tang, W. F.; Chung, Brian H. Y.] Univ Hong Kong, Li Ka Shing Fac Med, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China.
[Chan, Kelvin Y. K.; Lau, Elizabeth T.; Tang, Mary H. Y.] Tsan Yuk Hosp, Prenatal Diagnost & Counseling Dept, Hong Kong, Hong Kong, Peoples R China.
[Kan, Anita S. Y.] Queen Mary Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China.
[Sin, W. K.] Tuen Mun Hosp, Dept Obstet & Gynaecol, Hong Kong, Hong Kong, Peoples R China.
RP Chung, BHY (reprint author), Univ Hong Kong, Li Ka Shing Fac Med, Queen Mary Hosp, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
EM bhychung@hku.hk
FU SK Yee Medical Research Fund; SK Yee Medical Foundation, Hong Kong
FX SK Yee Medical Research Fund & SK Yee Medical Foundation, Hong Kong.
CR Armour CM, 2011, EUR J HUM GENET, V19, P1144, DOI 10.1038/ejhg.2011.97
Bi WM, 2009, NAT GENET, V41, P168, DOI 10.1038/ng.302
Bruno DL, 2010, J MED GENET, V47, P299, DOI 10.1136/jmg.2009.069906
Ho ACC, 2012, EUR J MED GENET, V55, P758, DOI 10.1016/j.ejmg.2012.09.011
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Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006
NR 7
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 FEB
PY 2014
VL 57
IS 2-3
BP 81
EP 84
DI 10.1016/j.ejmg.2013.12.005
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA AE2OT
UT WOS:000333813500006
PM 24380768
ER
PT J
AU Jiang, YV
Capistrano, CG
Palm, BE
AF Jiang, Yuhong V.
Capistrano, Christian G.
Palm, Bryce E.
TI Spatial Working Memory in Children With High-Functioning Autism: Intact
Configural Processing But Impaired Capacity
SO JOURNAL OF ABNORMAL PSYCHOLOGY
LA English
DT Article
DE autism spectrum disorder; spatial working memory; attention; configural
processing
ID SHORT-TERM-MEMORY; MULTIPLE OBJECT TRACKING; VISUAL CHANGE DETECTION;
SPECTRUM DISORDERS; ATTENTION; INTERFERENCE; ORGANIZATION; PERFORMANCE;
PERCEPTION; DEFICITS
AB Visual attention and visual working memory exert severe capacity limitations on cognitive processing. Impairments in both functions may exacerbate the social and communication deficits seen in children with an autism spectrum disorder (ASD). This study characterizes spatial working memory and visual attention in school-age children with high-functioning autism. Children with ASD, and age, gender, and IQ-matched typically developing (TD) children performed 2 tasks: a spatial working memory task and an attentive tracking task. Compared with TD children, children with ASD showed a more pronounced deficit in the spatial working memory task than the attentive tracking task, even though the latter placed significant demands on sustained attention, location updating, and distractor inhibition. Because both groups of children were sensitive to configuration mismatches between the sample and test arrays, the spatial working memory deficit was not because of atypical organization of spatial working memory. These findings show that attention and working memory are dissociable, and that children with ASD show a specific deficit in buffering visual information across temporal discontinuity.
C1 [Jiang, Yuhong V.; Capistrano, Christian G.; Palm, Bryce E.] Univ Minnesota, Dept Psychol, Minneapolis, MN 55455 USA.
RP Jiang, YV (reprint author), Univ Minnesota, Dept Psychol, S251 Elliott Hall,75 East River Rd, Minneapolis, MN 55455 USA.
EM jiang166@umn.edu
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NR 53
TC 2
Z9 2
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0021-843X
EI 1939-1846
J9 J ABNORM PSYCHOL
JI J. Abnorm. Psychol.
PD FEB
PY 2014
VL 123
IS 1
BP 248
EP 257
DI 10.1037/a0035420
PG 10
WC Psychology, Clinical; Psychology, Multidisciplinary
SC Psychology
GA AD7RL
UT WOS:000333462800025
PM 24661175
ER
PT J
AU Burke, MM
Hodapp, RM
AF Burke, Meghan M.
Hodapp, Robert M.
TI Relating Stress of Mothers of Children With Developmental Disabilities
to Family-School Partnerships
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE stress; education; family-school partnership; developmental disability
ID PARENTING STRESS; DOWN-SYNDROME; CAREGIVERS; HEALTH; AUTISM;
PERSPECTIVES; PERCEPTIONS; PERSONALITY; DISORDERS; SERVICES
AB Although mothers of children with intellectual and developmental disabilities (IDD) experience high levels of stress and schools constitute an important resource, the relation remains unknown between maternal stress and educational services. Responding to a national, web-based survey, 965 mothers of students with disabilities completed a 163-item questionnaire about parent stress. We examined which child, parent, and parent-school characteristics correlated with maternal stress. Mothers with lower stress levels reported better parent-school relationships and low levels of parent advocacy. However, lower stress levels were predominantly shown by mothers with good-to-excellent parent-school relationships (vs. poor-to-fair partnerships) and who engaged in virtually no (vs. any) advocacy activities. Lower maternal stress levels were also noted when children had fewer behavior problems, Down syndrome, and did not have autism. Less stress was also reported by mothers who had not enacted procedural safeguards, were minorities, and rated themselves lower on neuroticism and were more extroverted, dependable, and open to new experiences. This study has important implications for practitioners and researchers.
C1 [Burke, Meghan M.] Univ Illinois, Chicago, IL 60608 USA.
[Hodapp, Robert M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Hodapp, Robert M.] Vanderbilt Univ, George Peabody Coll Teachers, Dept Special Educ, Nashville, TN 37203 USA.
RP Burke, MM (reprint author), Univ Illinois, 1640 W Roosevelt Rd, Chicago, IL 60608 USA.
EM meghanbm@uic.edu; robert.hodapp@vanderbilt.edu
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NR 36
TC 2
Z9 2
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD FEB
PY 2014
VL 52
IS 1
BP 13
EP 23
DI 10.1352/1934-9556-52.1.13
PG 11
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AD3YE
UT WOS:000333181600002
PM 24635688
ER
PT J
AU Findler, L
AF Findler, Liora
TI The Experience of Stress and Personal Growth Among Grandparents of
Children With and Without Intellectual Disability
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE grandparents; intellectual disability; stress; personal growth
ID POSTTRAUMATIC GROWTH; INTERGENERATIONAL SUPPORT; SOCIAL SUPPORT;
MENTAL-HEALTH; FAMILIES; MOTHERS; GRANDCHILDREN; GRANDMOTHERS;
ADJUSTMENT; AUTISM
AB The aim of this research was to examine the contribution of internal and external resources to stress and personal growth among grandparents of children with and without an intellectual disability. Ninety-four grandparents of children with intellectual disability and 105 grandparents of children without intellectual disability completed the following scales: Multidimensional Experience of Grandparenthood; Multidimensional Scale for Perceived Social Support, Level of Differentiation of Self Scale, Family Adaptability and Cohesion Evaluation Scale, Perceived Stress Scale, and Posttraumatic Growth Inventory. Results indicate that group differences are reflected in higher negative emotions among grandparents of children without intellectual disability. In addition, both stress and growth are related to better health, lower level of education, family cohesiveness, and negative emotions. However, whereas stress is associated with the internal resource of self-differentiation, the external resource of social support, and the cost of grandparenthood, growth is associated with gender and the symbolic and behavioral aspects of the grandparenting role. This study aimed to correct the nearly exclusive focus in the literature on negativity, stress, and the burden of grandparenting children with intellectual disability, as well as to test the pervasive assumption that the absence of disability results in an almost entirely positive grandparenting experience with nearly no negative affect.
C1 Bar Ilan Univ, Louis & Gabi Weisfeld Sch Social Work, IL-52900 Ramat Gan, Israel.
RP Findler, L (reprint author), Bar Ilan Univ, Louis & Gabi Weisfeld Sch Social Work, IL-52900 Ramat Gan, Israel.
EM findler@biu.ac.il
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NR 64
TC 0
Z9 0
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD FEB
PY 2014
VL 52
IS 1
BP 32
EP 48
DI 10.1352/1934-9556-52.1.32
PG 17
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AD3YE
UT WOS:000333181600004
PM 24635690
ER
PT J
AU Stortz, JN
Lake, JK
Cobigo, V
Ouellette-Kuntz, HMJ
Lunsky, Y
AF Stortz, Jessica N.
Lake, Johanna K.
Cobigo, Virginie
Ouellette-Kuntz, Helene M. J.
Lunsky, Yona
TI Lessons Learned From Our Elders: How to Study Polypharmacy in
Populations With Intellectual and Developmental Disabilities
SO INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE polypharmacy; intellectual and developmental disabilities; autism
spectrum disorders; medication
ID PSYCHOTROPIC MEDICATION USE; AUTISM SPECTRUM DISORDERS; GROUP-HOME
RESIDENTS; DRUG-USE; ANTIPSYCHOTIC POLYPHARMACY; PRESCRIPTION DATABASE;
MENTAL-RETARDATION; GENERAL-PRACTICE; OLDER-PEOPLE; PRIMARY-CARE
AB Polypharmacy is the concurrent use of multiple medications, including both psychotropic and non-psychotropic drugs. Although it may sometimes be clinically indicated, polypharmacy can have a number of negative consequences, including medication nonadherence, adverse drug reactions, and undesirable drug-drug interactions. The objective of this paper was to gain a better understanding of how to study polypharmacy among people with intellectual and developmental disabilities (IDD). To do this, we reviewed literature on polypharmacy among the elderly and people with IDD to inform future research approaches and methods on polypharmacy in people with IDD. Results identified significant variability in methods used to study polypharmacy, including definitions of polypharmacy, samples studied, analytic strategies, and variables included in the analyses. Four valuable methodological lessons to strengthen future polypharmacy research in individuals with IDD emerged. These included the use of consistent definitions of polypharmacy, the implementation of population-based sampling strategies, the development of clinical guidelines, and the importance of studying associated variables.
C1 [Stortz, Jessica N.; Ouellette-Kuntz, Helene M. J.] Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada.
[Lake, Johanna K.; Lunsky, Yona] Ctr Addict & Mental Hlth, Dual Diag Serv, Toronto, ON, Canada.
[Cobigo, Virginie] Univ Ottawa, Sch Psychol, Ottawa, ON K1N 6N5, Canada.
[Cobigo, Virginie] Univ E Anglia, Norwich NR4 7TJ, Norfolk, England.
RP Stortz, JN (reprint author), Queens Univ, Dept Publ Hlth Sci, Kingston, ON, Canada.
EM jess.stortz@gmail.com
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NR 57
TC 1
Z9 1
PU AMER ASSOC INTELLECTUAL DEVELOPMENTAL DISABILITIES
PI WASHINGTON
PA 444 N CAPITOL ST, NW STE 846, WASHINGTON, DC 20001-1512 USA
SN 1934-9491
EI 1934-9556
J9 INTELLECT DEV DISAB
JI Intellect. Dev. Disabil.
PD FEB
PY 2014
VL 52
IS 1
BP 60
EP 77
DI 10.1352/1934-9556-52.1.60
PG 18
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AD3YE
UT WOS:000333181600006
PM 24635692
ER
PT J
AU Huang, H
Vasung, L
AF Huang, Hao
Vasung, Lana
TI Gaining insight of fetal brain development with diffusion MRI and
histology
SO INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Fetal brain; Development; DTI; Histology; White matter; Cerebral wall;
Connectivity; Tractography
ID ANISOTROPIC WATER DIFFUSION; HUMAN CEREBRAL-CORTEX; WHITE-MATTER
DEVELOPMENT; HUMAN PREFRONTAL CORTEX; TENSOR MRI; IN-VIVO; PRENATAL
DEVELOPMENT; PRETERM INFANTS; LAMINAR ORGANIZATION; FIBER PATHWAYS
AB Human brain is extraordinarily complex and yet its origin is a simple tubular structure. Its development during the fetal period is characterized by a series of accurately organized events which underlie the mechanisms of dramatic structural changes during fetal development. Revealing detailed anatomy at different stages of human fetal brain development provides insight on understanding not only this highly ordered process, but also the neurobiological foundations of cognitive brain disorders such as mental retardation, autism, schizophrenia, bipolar and language impairment. Diffusion tensor imaging (DTI) and histology are complementary tools which are capable of delineating the fetal brain structures at both macroscopic and microscopic levels. In this review, the structural development of the fetal brains has been characterized with DTI and histology. Major components of the fetal brain, including cortical plate, fetal white matter and cerebral wall layer between the ventricle and subplate, have been delineated with DTI and histology. Anisotropic metrics derived from DTI were used to quantify the microstructural changes during the dynamic process of human fetal cortical development and prenatal development of other animal models. Fetal white matter pathways have been traced with DTI-based tractography to reveal growth patterns of individual white matter tracts and corticocortical connectivity. These detailed anatomical accounts of the structural changes during fetal period may provide the clues of detecting developmental and cognitive brain disorders at their early stages. The anatomical information from DTI and histology may also provide reference standards for diagnostic radiology of premature newborns. (C) 2013 ISDN. Published by Elsevier Ltd. All rights reserved.
C1 [Huang, Hao] Johns Hopkins Univ, Adv Imaging Res Ctr, Baltimore, MD 21218 USA.
[Huang, Hao] Johns Hopkins Univ, Univ Texas Southwestern Med Ctr, Dept Radiol, Baltimore, MD 21218 USA.
[Huang, Hao] Johns Hopkins Univ, Dept Radiol, Baltimore, MD 21218 USA.
[Vasung, Lana] Univ Zagreb, Croatian Inst Brain Res, Zagreb 41000, Croatia.
RP Huang, H (reprint author), Univ Texas SW Med Ctr Dallas, Adv Imaging Res Ctr, 5323 Harry Hines Blvd, Dallas, TX 75390 USA.
EM hao.huang@utsouthwestern.edu
FU NIH [MH092535, MH092535S1]
FX This study is sponsored by NIH MH092535 and NIH MH092535S1. The authors
would like to thank Dr. Ivica Kostovic for the scientific comments. The
authors would also like to thank Drs. Jeffrey Neil, Ivica Kostovic,
Christopher Kroenke, Emi Takahashi and Robert McKinstry for kindly
giving the permission to use their figures.
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NR 85
TC 1
Z9 1
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 FEB
PY 2014
VL 32
SI SI
BP 11
EP 22
DI 10.1016/j.ijdevneu.2013.06.005
PG 12
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AD1NW
UT WOS:000333001700003
PM 23796901
ER
PT J
AU Ruigrok, ANV
Salimi-Khorshidi, G
Lai, MC
Baron-Cohen, S
Lombardo, MV
Tait, RJ
Suckling, J
AF Ruigrok, Amber N. V.
Salimi-Khorshidi, Gholaihreza
Lai, Meng-Chuan
Baron-Cohen, Simon
Lombardo, Michael V.
Tait, Roger J.
Suckling, John
TI A meta-analysis of sex differences in human brain structure
SO NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
LA English
DT Article
DE Brain; Sex differences; Meta-analysis; Gaussian-process regression
(GPR); Voxel-based morphometry; Volume
ID VOXEL-BASED MORPHOMETRY; ADULT HUMAN BRAIN; CORTICAL GRAY-MATTER;
CORPUS-CALLOSUM SIZE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
INTRACRANIAL COMPARTMENT VOLUMES; AUTISM SPECTRUM DISORDER; VENTRAL
FRONTAL-CORTEX; WHITE-MATTER; GENDER-DIFFERENCES
AB The prevalence, age of onset, and symptomatology of many neuropsychiatric conditions differ between males and females. To understand the causes and consequences of sex differences it is important to establish where they occur in the human brain. We report the first meta-analysis of typical sex differences on global brain volume, a descriptive account of the breakdown of studies of each compartmental volume by six age categories, and whole-brain voxel-wise meta-analyses on brain volume and density. Gaussian-process regression coordinate-based meta-analysis was used to examine sex differences in voxel-based regional volume and density. On average, males have larger total brain volumes than females. Examination of the breakdown of studies providing total volumes by age categories indicated a bias towards the 18-59 year-old category. Regional sex differences in volume and tissue density include the amygdala, hippocampus and insula, areas known to be implicated in sex-biased neuropsychiatric conditions. Together, these results suggest candidate regions for investigating the asymmetric effect that sex has on the developing brain, and for understanding sex-biased neurological and psychiatric conditions. (C) 2014 The Authors. Published by Elsevier Ltd. All rights reserved.
C1 [Ruigrok, Amber N. V.; Lai, Meng-Chuan; Baron-Cohen, Simon; Lombardo, Michael V.] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 2AH, England.
[Salimi-Khorshidi, Gholaihreza] Univ Oxford, John Radcliffe Hosp, FMRIB, Ctr Funct MRI,Brain Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England.
[Lai, Meng-Chuan] Natl Taiwan Univ, Coll Med, Dept Psychiat, Taipei 10051, Taiwan.
[Baron-Cohen, Simon; Suckling, John] Fulbourn Hosp, Cambridgeshire & Peterborough NHS Fdn Trust, Cambridge CB21 5EF, England.
[Lombardo, Michael V.] Univ Cyprus, Dept Psychol, CY-1678 Nicosia, Cyprus.
[Tait, Roger J.; Suckling, John] Univ Cambridge, Sch Clin Med, Brain Mapping Unit, Cambridge CB2 0SP, England.
[Tait, Roger J.; Suckling, John] Univ Cambridge, Behav & Clin Neurosci Inst, Dept Psychol, Cambridge CB2 3EB, England.
RP Ruigrok, ANV (reprint author), Univ Cambridge, Autism Res Ctr, Dept Psychiat, Douglas House,18B Trumpington Rd, Cambridge CB2 2AH, England.
EM ar560@cam.ac.uk
FU Wellcome Trust; Medical Research Council (MRC) Behavioural and Clinical
Neuroscience Institute; UK MRC PhD Studentship [RNAG/261 Task 2]; Dr
Hendrik Muller Vaderlandsch Fonds; Carolus Magnus Fonds under the Prins
Bernard Cultuurfonds; Waterloo Foundation [921/1247]; Jesus College
Cambridge; British Academy; Autism Research Trust; MRC
FX We would like to thank all the authors of studies included in the
meta-analyses who provided additional data. This study was supported by
the Wellcome Trust and Medical Research Council (MRC) Behavioural and
Clinical Neuroscience Institute. A.N.V.R. was funded by an UK MRC PhD
Studentship grant number RNAG/261 Task 2, the Wellcome Trust, the Dr
Hendrik Muller Vaderlandsch Fonds, and the Carolus Magnus Fonds under
the Prins Bernard Cultuurfonds; M-C.L. was funded by the Waterloo
Foundation grant number 921/1247; M.V.L. by the Wellcome Trust, Jesus
College Cambridge, and the British Academy; and S.B-C. by the Wellcome
Trust, the Autism Research Trust and the MRC.
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NR 180
TC 16
Z9 16
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 FEB
PY 2014
VL 39
BP 34
EP 50
DI 10.1016/j.neubiorev.2013.12.004
PG 17
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AC7ZN
UT WOS:000332752900002
PM 24374381
ER
PT J
AU Koh, E
AF Koh, Eugen
TI The Cunningham Dax Collection: a unique mental health resource
SO AUSTRALASIAN PSYCHIATRY
LA English
DT Article
DE art; mental illness; trauma; collection; mental health promotion
AB Objectives: This paper compares the Cunningham Dax Collection with other, similar collections around the world, of art by people with an experience of mental illness.
Conclusion: The Cunningham Dax Collection is one of the largest collections of art by people with an experience of mental illness and psychological trauma in the world. Unlike most other collections, which focus on artworks by people with psychosis, mania and depression, the Cunningham Dax Collection covers a broad range of experiences, including anxiety disorders, dementia, autism and psychological trauma, as well as works by children made during their treatment for emotional problems. While most other collections emphasize the artistic qualities of the works, the Cunningham Dax Collection emphasizes both their artistic and psychological dimensions. Its educational program is recognized for its approach against stigma, by simultaneously promoting mental health literacy and highlighting the creativity of people with mental illness through art. It also distinguishes itself from others by its assertive touring program to rural and regional centres, and internationally. This program aims to build capacity for mental health promotion and suicide prevention by encouraging local communities to come together and use the visiting exhibitions to launch local mental health awareness activities.
C1 [Koh, Eugen] Cunningham Dax Collect, Fitzroy, Vic, Australia.
[Koh, Eugen] St Vincents Hosp, Fitzroy, Vic 3065, Australia.
RP Koh, E (reprint author), St Vincents Hosp, 46 Nicholson St, Fitzroy, Vic 3065, Australia.
EM eugenkoh@me.com
NR 0
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1039-8562
EI 1440-1665
J9 AUSTRALAS PSYCHIATRY
JI Australas. Psychiatry
PD FEB
PY 2014
VL 22
IS 1
BP 41
EP 43
DI 10.1177/1039856213517951
PG 3
WC Psychiatry
SC Psychiatry
GA AA7NX
UT WOS:000331285300009
PM 24516241
ER
PT J
AU Corbett, BA
Swain, DM
Coke, C
Simon, D
Newsom, C
Houchins-Juarez, N
Jenson, A
Wang, L
Song, YN
AF Corbett, Blythe A.
Swain, Deanna M.
Coke, Catherine
Simon, David
Newsom, Cassandra
Houchins-Juarez, Nea
Jenson, Ashley
Wang, Lily
Song, Yanna
TI Improvement in Social Deficits in Autism Spectrum Disorders Using a
Theatre-Based, Peer-Mediated Intervention
SO AUTISM RESEARCH
LA English
DT Article
DE autism; social interaction; face processing; theatre; cortisol
ID PERVASIVE DEVELOPMENTAL DISORDERS; SKILLS INTERVENTIONS;
ASPERGER-SYNDROME; PARENTING STRESS; CHILDREN; CORTISOL; BEHAVIOR;
CLASSIFICATION; COMMUNICATION; METAANALYSIS
AB Social Emotional NeuroScience Endocrinology Theatre is a novel intervention program aimed at improving reciprocal social interaction in youth with autism spectrum disorder (ASD) using behavioral strategies and theatrical techniques in a peer-mediated model. Previous research using a 3-month model showed improvement in face perception, social interaction, and reductions in stress. The current study assessed a 2-week summer camp model. Typically developing peers were trained and paired with ASD youth (8-17 years). Social perception and interaction skills were measured before and after treatment using neuropsychological and parental measures. Behavioral coding by reliable, independent raters was conducted within the treatment context (theatre) and outside the setting (playground). Salivary cortisol levels to assess physiological arousal were measured across contexts (home, theatre, and playground). A pretest-posttest design for within-group comparisons was used, and prespecified pairwise comparisons were achieved using a nonparametric Wilcoxon signed-rank test. Significant differences were observed in face processing, social awareness, and social cognition (P<0.05). Duration of interaction with familiar peers increased significantly over the course of treatment (P<0.05), while engagement with novel peers outside the treatment setting remained stable. Cortisol levels rose on the first day of camp compared with home values yet declined by the end of treatment and further reduced during posttreatment play with peers. Results corroborate previous findings that the peer-mediated theatre program contributes to improvement in core social deficits in ASD using a short-term, summer camp treatment model. Future studies will explore treatment length and peer familiarity to optimize and generalize gains. Autism Res 2014,7: 4-16. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Corbett, Blythe A.; Swain, Deanna M.; Simon, David; Newsom, Cassandra; Jenson, Ashley] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
[Corbett, Blythe A.; Swain, Deanna M.; Simon, David; Newsom, Cassandra; Houchins-Juarez, Nea; Wang, Lily] Vanderbilt Kennedy Ctr, Nashville, TN USA.
[Coke, Catherine] Univ Sch Nashville, Nashville, TN USA.
[Wang, Lily; Song, Yanna] Vanderbilt Univ, Dept Biostat, Nashville, TN 37203 USA.
RP Corbett, BA (reprint author), Vanderbilt Univ, PMB 40,230 Appleton Pl, Nashville, TN 37203 USA.
EM blythe.corbett@vanderbilt.edu
FU Martin McCoy-Jesperson Discovery Grant in Positive Psychology; National
Institute of Mental Health [R01 MH085717]; National Institute of Child
Health and Human Development [P30 HD15052]
FX Grant Sponsor: Martin McCoy-Jesperson Discovery Grant in Positive
PsychologyGrant Sponsor: National Institute of Mental Health; Grant
Number: R01 MH085717Grant Sponsor: National Institute of Child Health
and Human Development; Grant Number: P30 HD15052
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NR 64
TC 4
Z9 4
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 FEB
PY 2014
VL 7
IS 1
BP 4
EP 16
DI 10.1002/aur.1341
PG 13
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300002
PM 24150989
ER
PT J
AU Louwerse, A
Tulen, JHM
van der Geest, JN
van der Ende, J
Verhulst, FC
Greaves-Lord, K
AF Louwerse, Anneke
Tulen, Joke H. M.
van der Geest, Jos N.
van der Ende, Jan
Verhulst, Frank C.
Greaves-Lord, Kirstin
TI Autonomic Responses to Social and Nonsocial Pictures in Adolescents With
Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders (ASD); affective pictures; autonomic
responses; subjective ratings; heart rate; skin conductance level
ID DIAGNOSTIC OBSERVATION SCHEDULE; HIGH-FUNCTIONING AUTISM; ELECTRODERMAL
REACTIVITY; PHYSIOLOGICAL REACTIVITY; CHILDREN; EMOTION; FACES;
PERCEPTION; GAZE; COMMUNICATION
AB It remains unclear why individuals with autism spectrum disorder (ASD) tend to respond in an atypical manner in social situations. Investigating autonomic and subjective responses to social vs. nonsocial stimuli may help to reveal underlying mechanisms of these atypical responses. This study examined autonomic responses (skin conductance level and heart rate) and subjective responses to social vs. nonsocial pictures in 37 adolescents with an ASD and 36 typically developing (TD) adolescents. Thirty-six pictures from the International Affective Picture System were presented, divided into six categories based on social content (social vs. nonsocial) and pleasantness (pleasant, neutral, and unpleasant). Both in adolescents with ASD as well as TD adolescents, pictures with a social content resulted in higher skin conductance responses (SCRs) for pleasant and unpleasant pictures than for neutral pictures. No differences in SCRs were found for the three nonsocial picture categories. Unpleasant pictures, both with and without a social content, showed more heart rate deceleration than neutral pictures. Self-reported arousal ratings were influenced by the social and affective content of a picture. No differences were found between individuals with ASD and TD individuals in their autonomic and subjective responses to the picture categories. These results suggest that adolescents with ASD do not show atypical autonomic or subjective responses to pictures with and without a social content. These findings make it less likely that impairments in social information processing in individuals with ASD can be explained by atypical autonomic responses to social stimuli. Autism Res 2014, 7: 17-27. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Louwerse, Anneke; van der Ende, Jan; Verhulst, Frank C.; Greaves-Lord, Kirstin] Erasmus MC Sophia, Dept Child & Adolescent Psychiat Psychol, NL-3015 CN Rotterdam, Netherlands.
[Louwerse, Anneke; Greaves-Lord, Kirstin] Yulius, Org Mental Hlth, Dordrecht, Netherlands.
[Tulen, Joke H. M.] Erasmus MC, Dept Psychiat, Rotterdam, Netherlands.
[van der Geest, Jos N.] Erasmus MC, Dept Neurosci, Rotterdam, Netherlands.
RP Louwerse, A (reprint author), Erasmus MC Sophia, Dept Child & Adolescent Psychiat Psychol, Wytemaweg 8, NL-3015 CN Rotterdam, Netherlands.
EM s.louwerse@erasmusmc.nl
FU Sophia Foundation for Scientific Research (SSWO) [586]; Nuts Ohra
Foundation [0803-53]
FX Grant sponsor: Sophia Foundation for Scientific Research (SSWO), Grant
number: 586, 2009.Grant sponsor: Nuts Ohra Foundation, Grant number:
0803-53.
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NR 60
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 FEB
PY 2014
VL 7
IS 1
BP 17
EP 27
DI 10.1002/aur.1327
PG 11
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300003
PM 24022989
ER
PT J
AU Custance, DM
Mayer, JL
Kumar, E
Hill, E
Heaton, PF
AF Custance, Deborah M.
Mayer, Jennifer L.
Kumar, Emmelianna
Hill, Elisabeth
Heaton, Pamela F.
TI Do Children With Autism Re-Enact Object Movements Rather Than Imitate
Demonstrator Actions?
SO AUTISM RESEARCH
LA English
DT Article
DE autism; imitation; emulation; transitive
ID SPECTRUM DISORDERS; DIAGNOSTIC INTERVIEW; MOTOR IMITATION; INFANTS;
DEFICITS; TASK; APES; MIND
AB It has been suggested that autism-specific imitative deficits may be reduced or even spared in object-related activities. However, most previous research has not sufficiently distinguished object movement reenactment (learning about the ways in which object move) from imitation (learning about the topography of demonstrated actions). Twenty children with autism (CWA) and 20 typically developing children (TDC) were presented with puzzle boxes containing prizes. Test objects and experimental conditions were designed to isolate object- and action-related aspects of demonstrations. There were four types of video demonstrations: (a) a full demonstration by an adult; (b) a ghost demonstration with object movements alone; (c) mimed solutions demonstrated adjacent to the objects; and (d) random actions performed on the surface of the objects. There were no significant between-group differences in the degree to which CWA and TDC matched the full demonstrations, the actual demonstrations or in their times to first solution in any of the conditions. Although there was no clear imitative deficit in the CWA, regression analyses were conducted to explore in more detail whether diagnosis, verbal intelligence quotient (VIQ), nonverbal IQ NVIQ, age or motor coordination predicted performance. The results are discussed in relation to the use of extrinsic vs. intrinsic rewards and the interplay between motor coordination and the relative rigidity vs. pliability of objects. Autism Res 2014, 7: 28-39. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Custance, Deborah M.; Hill, Elisabeth; Heaton, Pamela F.] Univ London Goldsmiths Coll, Dept Psychol, London SE14 6NW, England.
[Mayer, Jennifer L.] Univ Roehampton, Dept Psychol, Whitelands Coll, London SW15 4JD, England.
[Kumar, Emmelianna] Zool Soc London, Inst Zool, London NW1 4RY, England.
RP Mayer, JL (reprint author), Univ Roehampton, Dept Psychol, Whitelands Coll, Holyborne Ave, London SW15 4JD, England.
EM jennifer.mayer@roehampton.ac.uk
FU Economic and Social Research Council [RES-00022-2006]
FX This research was carried out with the support of the Economic and
Social Research Council (award reference number RES-00022-2006). We are
very grateful to all the schools, children and parents who participated
in our experiments. We are indebted to Mr. Stephen Yesson and Mr. Robert
Davis for constructing the test objects, Mrs. Vivienne Custance and Dr
Lisa Riley for helping in data collection, and Ms. Elisabeth Martinsson
and Mrs. Katherine Filer for interobserver reliability coding. We would
like to thank Dr. Rory Allen for offering his statistical expertise. We
are also grateful to the reviewers who provided extremely helpful and
insightful commentaries on earlier versions of this paper.
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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 FEB
PY 2014
VL 7
IS 1
BP 28
EP 39
DI 10.1002/aur.1328
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300004
PM 24022995
ER
PT J
AU Mayer, JL
Heaton, PF
AF Mayer, Jennifer L.
Heaton, Pamela F.
TI Age and Sensory Processing Abnormalities Predict Declines in Encoding
and Recall of Temporally Manipulated Speech in High-Functioning Adults
with ASD
SO AUTISM RESEARCH
LA English
DT Article
DE Autism Spectrum Disorders; Speech Perception; Auditory Processing; Aging
ID AUTISM SPECTRUM DISORDERS; EVENT-RELATED POTENTIALS; BRAIN-STEM
RESPONSE; ASPERGER-SYNDROME; RAPID SPEECH; CHILDREN; PERCEPTION; TIME;
ATTENTION; SOUNDS
AB While temporal and perceptual processing abnormalities, identified in a number of electrophysiological and brain imaging studies of individuals with (ASD), are likely to impact on speech perception, surprisingly little is known about the behavioral outcomes of such abnormalities. It has been hypothesized that rapid temporal processing deficits may be linked to impaired language development through interference with acoustic information during speech perception. The present study aimed to investigate the impact of temporal changes on encoding and recall of speech, and the associated cognitive, clinical, and behavioral correlates in adults with ASD. Research carried out with typically developing (TD) adults has shown that word recall diminishes as the speed of speech increases, and it was predicted that the magnitude of this effect would be far greater in those with ASD because of a preexisting rapid temporal processing deficit. Nineteen high-functioning adults with ASD, and age- and intelligence-matched TD controls performed verbatim recall of temporally manipulated sentences. Reduced levels of word recall in response to increases in presentation speed were observed, and this effect was greater in the older participants in the ASD group than in the control group. This is the first study to show that both sensory abnormalities and aging impact on speech encoding in ASD. Auditory processing deficits in ASD may be indicative of an association with the sensory abnormalities and social and communication impairments characterizing the disorder. Autism Res 2014, 7: 40-49. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Mayer, Jennifer L.] Univ Roehampton, Dept Psychol, London SW15 4JD, England.
[Heaton, Pamela F.] Univ London, Univ London Goldsmiths Coll, Dept Psychol, London, England.
RP Mayer, JL (reprint author), Univ Roehampton, Dept Psychol, Whitelands Coll, Holyborne Ave, London SW15 4JD, England.
EM jennifer.mayer@roehampton.ac.uk
FU Baily Thomas Trust
FX This research was carried out with the support of the Baily Thomas
Trust. We are very grateful to all the ASD and TD adults who
participated in our study. We would also like to thank Mr. Ian Hannett
for his assistance creating the stimuli.
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NR 38
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 FEB
PY 2014
VL 7
IS 1
BP 40
EP 49
DI 10.1002/aur.1333
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300005
PM 24106132
ER
PT J
AU Bebko, JM
Schroeder, JH
Weiss, JA
AF Bebko, James M.
Schroeder, Jessica H.
Weiss, Jonathan A.
TI The McGurk Effect in Children With Autism and Asperger Syndrome
SO AUTISM RESEARCH
LA English
DT Article
DE autism; intermodal perception; Asperger syndrome; intellectual
disability; speech
ID SPECTRUM DISORDERS; SPEECH-PERCEPTION; INTEGRATION; INFANTS; LIPS; FACE
AB Children with autism may have difficulties in audiovisual speech perception, which has been linked to speech perception and language development. However, little has been done to examine children with Asperger syndrome as a group on tasks assessing audiovisual speech perception, despite this group's often greater language skills. Samples of children with autism, Asperger syndrome, and Down syndrome, as well as a typically developing sample, were presented with an auditory-only condition, a speech-reading condition, and an audiovisual condition designed to elicit the McGurk effect. Children with autism demonstrated unimodal performance at the same level as the other groups, yet showed a lower rate of the McGurk effect compared with the Asperger, Down and typical samples. These results suggest that children with autism may have unique intermodal speech perception difficulties linked to their representations of speech sounds. Autism Res 2014, 7: 50-59. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Bebko, James M.; Schroeder, Jessica H.; Weiss, Jonathan A.] York Univ, Toronto, ON M3J 1P3, Canada.
RP Bebko, JM (reprint author), York Univ, Dept Psychol, 4700 Keele St, Toronto, ON M3J 1P3, Canada.
EM jbebko@yorku.ca
FU Canadian Graduate Scholarship Master's and Doctoral Awards; Canadian
Institutes of Health Research (CIHR); Ontario Mental Health Foundation;
CIHR [RT-43820]
FX We would like to thank Nicole Aliya Rahim, Lisa Hancock, Carly McMorris,
Maggie Slusarczyk, and Ksusha Blacklock for help in data collection.
Special thanks to all the parents and children involved in this study,
as well as the organizations who assisted in recruitment. A special
thank you to Melissa Hudson, and the late Jeanette Holden for their
generous assistance with the ASD-CARC Research Registry. This research
was supported by Canadian Graduate Scholarship Master's and Doctoral
Awards to the second author from the Canadian Institutes of Health
Research (CIHR), a Research Studentship to the third author from Autism
Ontario and the Ontario Mental Health Foundation, and a CIHR
Interdisciplinary Health Research Team grant (RT-43820) to the second
author and third author through the ASD-CARC consortium (JJAH, principal
investigator; http://www.asdcarc.com/).
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NR 34
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD FEB
PY 2014
VL 7
IS 1
BP 50
EP 59
DI 10.1002/aur.1343
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300006
PM 24136870
ER
PT J
AU Amiri, A
Sanchez-Ortiz, E
Cho, W
Birnbaum, SG
Xu, J
McKay, RM
Parada, LF
AF Amiri, Anahita
Sanchez-Ortiz, Efrain
Cho, Woosung
Birnbaum, Shari G.
Xu, Jing
McKay, Renee M.
Parada, Luis F.
TI Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in
Mouse Cortex and Hippocampus
SO AUTISM RESEARCH
LA English
DT Article
DE Fragile X Syndrome; Fmr1; autism; mental retardation; Nse-Cre; synaptic
plasticity
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; KNOCK-OUT MICE; GABA(A)
RECEPTOR; SOCIAL-INTERACTION; DENDRITIC SPINES; PURKINJE-CELLS; MODEL;
EXPRESSION; AUTISM
AB Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. AutismRes 2014, 7: 60-71. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc. (c) 2013 INSAR/Wiley Periodicals, Inc.
C1 [Amiri, Anahita; Sanchez-Ortiz, Efrain; Cho, Woosung; McKay, Renee M.; Parada, Luis F.] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA.
[Birnbaum, Shari G.] Univ Texas SW Med Ctr Dallas, Dept Psychiat, Dallas, TX 75390 USA.
RP Parada, LF (reprint author), Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA.
EM luis.parada@utsouthwestern.edu
FU Simons Foundation
FX We thank Ami Pettersen, Tracey Shipman, and Shawna Kennedy for technical
assistance. This study was supported by a grant to LFP from the Simons
Foundation. LFP is an American Cancer Society Professor.
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NR 66
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD FEB
PY 2014
VL 7
IS 1
BP 60
EP 71
DI 10.1002/aur.1342
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300007
PM 24408886
ER
PT J
AU Yi, L
Feng, C
Quinn, PC
Ding, HY
Li, J
Liu, YB
Lee, K
AF Yi, Li
Feng, Cong
Quinn, Paul C.
Ding, Haiyan
Li, Jiao
Liu, Yubing
Lee, Kang
TI Do Individuals with and without Autism Spectrum Disorder Scan Faces
Differently? A New Multi-Method Look at an Existing Controversy
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; face scanning; face recognition; eye tracking
ID DIAGNOSTIC INTERVIEW; NEURAL CIRCUITRY; YOUNG-CHILDREN; RECOGNITION;
FIXATION; GAZE; IMPAIRMENT; LOOKING; SKILLS; EYES
AB Individuals with autism spectrum disorder (ASD) are known to process faces atypically. However, there has been considerable controversy regarding whether ASD individuals also scan faces differently from typical adults. Here we compared ASD individuals' face-scanning patterns with those of typically developing (TD) controls and intellectually disabled (ID) but non-ASD individuals with the use of an eye tracker and multiple approaches to analyze eye-tracking data. First, we analyzed the eye movement data with a traditional approach, measuring fixation duration on each area of interest within the face. We found that compared with TD and ID individuals, ASD individuals looked significantly shorter at the right eye. Second, we used a data-driven method that analyzes fixations on each pixel of the face stimulus and found that individuals with ASD looked more at the central nasal area than TD and ID individuals. Third, we used a novel saccade path analysis that measures frequencies of saccades between major face areas. We found that ASD individuals scanned less often between core facial features than TD individuals but did not differ from ID individuals. Findings from the multi-method approaches show that individuals with ASD appear not to have a pervasive ASD-specific atypicality in visual attention toward the face. The ASD-specific atypical face-scanning patterns were shown to be limited to fixations on the eyes and nose. Autism Res 2014, 7: 72-83. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Yi, Li; Li, Jiao; Liu, Yubing] Sun Yat Sen Univ, Dept Psychol, Guangzhou 510275, Guangdong, Peoples R China.
[Feng, Cong] Sun Yat Sen Univ, Dept Philosophy, Guangzhou 510275, Guangdong, Peoples R China.
[Feng, Cong] Sun Yat Sen Univ, Inst Log & Cognit, Guangzhou 510275, Guangdong, Peoples R China.
[Quinn, Paul C.] Univ Delaware, Dept Psychol, Newark, DE USA.
[Ding, Haiyan] Guangzhou Zhanneng Vocat Training Ctr Disabled, Guangzhou, Guangdong, Peoples R China.
[Lee, Kang] Univ Toronto, Dr Eric Jackman Inst Child Study, Toronto, ON, Canada.
RP Yi, L (reprint author), Sun Yat Sen Univ, Dept Psychol, 135 Xingang West Rd, Guangzhou 510275, Guangdong, Peoples R China.
EM yili5@mail.sysu.edu.cn; kang.lee@utoronto.ca
FU Humanity and Social Science Youth Foundation of the Ministry of
Education of China [12YJC190034]; National Natural Science Foundation of
China [31200779]; Fundamental Research Funds for the Central
Universities [13wkpy40]; National Institutes of Health [R01HD48962,
R01HD46526]; Natural Sciences and Engineering Research Council of Canad;
Social Sciences and Humanities Research Council of Canada
FX This work was supported by grants from the Humanity and Social Science
Youth Foundation of the Ministry of Education of China (12YJC190034),
the National Natural Science Foundation of China (31200779), the
Fundamental Research Funds for the Central Universities (13wkpy40), and
grants from National Institutes of Health (R01HD48962 and R01HD46526)
and Natural Sciences and Engineering Research Council of Canada; Grant
sponsor: the Social Sciences and Humanities Research Council of Canada.
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NR 46
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 FEB
PY 2014
VL 7
IS 1
BP 72
EP 83
DI 10.1002/aur.1340
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300008
PM 24124133
ER
PT J
AU Au-Yeung, SK
Kaakinen, JK
Benson, V
AF Au-Yeung, Sheena K.
Kaakinen, Johanna K.
Benson, Valerie
TI Cognitive Perspective-Taking During Scene Perception in Autism Spectrum
Disorder: Evidence From Eye Movements
SO AUTISM RESEARCH
LA English
DT Article
DE autism; Asperger's syndrome; theory of mind; information processing; eye
movements; scene perception
ID ASPERGER-SYNDROME; REVISED VERSION; ATTENTION; MIND
AB The present study examined how eye movements during scene viewing are modulated by adopting psychological perspectives in both adults with autism spectrum disorders (ASD) and typically developing adults. In the current study, participants viewed house scenes with either non-perspective-taking (look for valuable items/features of the house that need fixing) or perspective-taking instructions (imagine that you are a burglar/repairman) while their eye movements were recorded. The eye movement measures revealed that for the look for the valuable items and burglar perspective task, the ASD group showed typical relevance effects (the preference to look at schema-relevant compared with schema-irrelevant targets) in their eye movements. However, we found subtle processing differences between the groups that were related to initial orienting to and processing of schema-relevant items for the look for the features that need fixing and the repairman perspective-taking task. There was an absence of a relevance effect for the ASD group for the repairman perspective and its non-perspective-taking equivalent instruction showing that the identification of items relevant to those schemas was more difficult for the ASD group. The present findings suggest that resolving ambiguity may be a defining feature of complex information processing deficits in ASD. Autism Res 2014, 7: 84-93. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Au-Yeung, Sheena K.; Benson, Valerie] Univ Southampton, Sch Psychol, Southampton SO17 1BJ, Hants, England.
[Kaakinen, Johanna K.] Univ Turku, Dept Psychol, Turku, Finland.
RP Benson, V (reprint author), Univ Southampton, Sch Psychol, Shackleton Bldg, Southampton SO17 1BJ, Hants, England.
EM V.Benson@soton.ac.uk
FU Economic and Social Research Council (ESRC) [ES/1019723/1]
FX This work was supported by the Economic and Social Research Council
(ESRC Reference Number: ES/1019723/1). We would like to thank our
participants, their carers, and the staff of the Southampton Adult
Asperger's Society, the University of Southampton, the Hampshire
Autistic Society, the Autism Diagnostic and Research Centre, the
National Autistic Society, and the Children on the Autistic Spectrum
Parents' Association for supporting our research. The authors declare no
conflict of interest.
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NR 24
TC 1
Z9 1
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD FEB
PY 2014
VL 7
IS 1
BP 84
EP 93
DI 10.1002/aur.1352
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300009
PM 24265216
ER
PT J
AU Madsen, GF
Bilenberg, N
Cantio, C
Oranje, B
AF Madsen, Gitte Falcher
Bilenberg, Niels
Cantio, Cathriona
Oranje, Bob
TI Increased Prepulse Inhibition and Sensitization of the Startle Reflex in
Autistic Children
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorders; PPI; sensorimotor gating; sensitization;
children; auditory processing
ID SENSORIMOTOR GATING DEFICITS; PERVASIVE DEVELOPMENTAL DISORDERS;
SPECTRUM DISORDERS; ACOUSTIC STARTLE; 1ST-EPISODE SCHIZOPHRENIA;
NEUROMOTOR PRECURSORS; DIAGNOSTIC INTERVIEW; ANTIPSYCHOTIC-NAIVE;
EMOTIONAL FACES; BIRTH COHORT
AB The relation between autism spectrum disorders (ASD) and schizophrenia is a subject of intense debate and research due to evidence of common neurobiological pathways in the two disorders. The objective of this study was to explore whether deficits in prepulse inhibition (PPI) of the startle reflex, as usually seen in schizophrenic patients, can be replicated in a group of children with ASD in comparison with a group of matched neuro-typically developed (NTD) controls. An additional aim was to explore possible psychophysiological subgroups within our ASD sample. In a case-control design, 35 ASD patients and 40 matched NTD controls were tested in a psychophysiological test battery. The PPI of the acoustic startle reflex was analyzed in 18 ASD subjects and 34 NTD controls. Habituation and sensitization were analyzed in 23 ASD subjects and 39 NTD controls. In trials with less intense prestimuli (76dB), patients with ASD did not display the drop in percentage PPI normally found in healthy controls. In addition, ASD patients showed significantly increased sensitization compared with NTD controls. Combined, our results may reflect the hypersensitivity to sensory information in children with ASD. The relation to PPI deficits observed in schizophrenia is not apparent. Future research should study the developmental course of PPI deficits in ASD patients in a longitudinal design. AutismRes 2014, 7: 94-103. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Madsen, Gitte Falcher; Bilenberg, Niels; Cantio, Cathriona] Univ Southern Denmark, Dept Child & Adolescent Mental Hlth Odense, Fac Hlth Sci, Res Unit Univ Funct, Glostrup, Denmark.
[Oranje, Bob] Univ Copenhagen, Copenhagen Univ Hosp, Dept Neurol Psychiat & Sensory Sci, Psychiat Ctr Glostrup,Fac Hlth Sci,CNSR, Glostrup, Denmark.
[Oranje, Bob] Univ Copenhagen, Ctr Clin Intervent & Neuropsychiat Schizophrenia, Dept Neurol Psychiat & Sensory Sci,Fac Hlth Sci, Copenhagen Univ Hosp,Psychiat Ctr Glostrup, Glostrup, Denmark.
RP Madsen, GF (reprint author), Child & Adolescent Psychiat Dept, Sdr Blvd 29, DK-5000 Odense C, Denmark.
EM gitte.falcher.madsen1@rsyd.dk
RI Bilenberg, Niels/I-6027-2014
FU Psychiatric Research Foundation in the Region of Southern Denmark
[09-5810]; Gangsted Foundation [1415-8436]; Fru Hermansens Foundation
[00962-0001]
FX This study was supported by The Psychiatric Research Foundation in the
Region of Southern Denmark grant 09-5810; Gangsted Foundation grant
1415-8436, and Fru Hermansens Foundation grant 00962-0001.
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NR 64
TC 3
Z9 4
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 FEB
PY 2014
VL 7
IS 1
BP 94
EP 103
DI 10.1002/aur.1337
PG 10
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300010
PM 24124111
ER
PT J
AU Laycock, R
Cross, AJ
Nogare, FD
Crewther, SG
AF Laycock, Robin
Cross, Alana Jade
Nogare, Felicity Dalle
Crewther, Sheila Gillard
TI Self-Rated Social Skills Predict Visual Perception: Impairments in
Object Discrimination Requiring Transient Attention Associated with High
Autistic Tendency
SO AUTISM RESEARCH
LA English
DT Article
DE autism; dorsal stream; ventral stream; object discrimination; attention
ID SPECTRUM DISORDER; FUNCTIONING AUTISM; BIOLOGICAL MOTION; RECOGNITION;
FACE; COHERENCE; ADOLESCENTS; ACTIVATION; MECHANISM; DYSLEXIA
AB Autism is usually defined by impairments in the social domain but has also been linked to deficient dorsal visual stream processing. However, inconsistent findings make the nature of this relationship unclear and thus, we examined the role of stimulus-driven transient attention, presumably activated by the dorsal stream in autistic tendency. Contrast thresholds for object discrimination were compared between groups with high and low self-rated autistic tendency utilizing the socially based Autism Spectrum Quotient (AQ). Visual stimuli were presented with either abrupt or with ramped contrast onsets/offsets in order to manipulate the demands of transient attention. Larger impairments in performance of abrupt compared with ramped object presentation were established in the high AQ group. Furthermore, self-reported social skills predicted abrupt task performance, suggesting an important visual perception deficiency in autism-related traits. Autism spectrum disorder may be associated with reduced utilization of the dorsal stream to rapidly activate attention prior to ventral stream processing when stimuli are transient. Autism Res 2014, 7: 104-111. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Laycock, Robin; Cross, Alana Jade; Nogare, Felicity Dalle; Crewther, Sheila Gillard] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic, Australia.
RP Laycock, R (reprint author), La Trobe Univ, Sch Psychol Sci, Bundoora, Vic 3086, Australia.
EM r.laycock@latrobe.edu.au
FU Australian Research Council [DP0985837]
FX We thank Ben Ong for assistance with data analysis. This work was
supported by the Australian Research Council (Discovery Project,
DP0985837). The authors have no conflicts of interest to declare.
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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 FEB
PY 2014
VL 7
IS 1
BP 104
EP 111
DI 10.1002/aur.1336
PG 8
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300011
PM 24124093
ER
PT J
AU Cassidy, S
Ropar, D
Mitchell, P
Chapman, P
AF Cassidy, Sarah
Ropar, Danielle
Mitchell, Peter
Chapman, Peter
TI Can Adults With Autism Spectrum Disorders Infer What Happened to Someone
From Their Emotional Response?
SO AUTISM RESEARCH
LA English
DT Article
DE autism; retrodictive mindreading; eye tracking; spontaneous emotion
recognition; face processing
ID HIGH-FUNCTIONING AUTISM; SPONTANEOUS FACIAL EXPRESSIONS;
ASPERGER-SYNDROME; SOCIAL INFORMATION; MIND; CHILDREN; RECOGNITION;
PERCEPTION; JUDGMENTS; ATTENTION
AB Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Cassidy, Sarah; Ropar, Danielle; Mitchell, Peter; Chapman, Peter] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England.
RP Ropar, D (reprint author), Univ Nottingham, Sch Psychol, Univ Pk, Nottingham NG7 2RD, England.
EM danielle.ropar@nottingham.ac.uk
FU University of Nottingham, School of Psychology
FX This research was carried out with the support of a PhD studentship
awarded by the University of Nottingham, School of Psychology.
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NR 59
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 FEB
PY 2014
VL 7
IS 1
BP 112
EP 123
DI 10.1002/aur.1351
PG 12
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300012
PM 24307231
ER
PT J
AU Steadman, PE
Ellegood, J
Szulc, KU
Turnbull, DH
Joyner, AL
Henkelman, RM
Lerch, JP
AF Steadman, Patrick E.
Ellegood, Jacob
Szulc, Kamila U.
Turnbull, Daniel H.
Joyner, Alexandra L.
Henkelman, R. Mark
Lerch, Jason P.
TI Genetic Effects on Cerebellar Structure Across Mouse Models of Autism
Using a Magnetic Resonance Imaging Atlas
SO AUTISM RESEARCH
LA English
DT Article
DE animal models; neuroimaging; neuroanatomy; structural MRI; genetics
ID FALSE DISCOVERY RATE; PURKINJE-CELLS; RETT-SYNDROME; BRAIN-STEM; MICE;
BEHAVIOR; MRI; SEROTONIN; ABNORMALITIES; ITGB3
AB Magnetic resonance imaging (MRI) of autism populations is confounded by the inherent heterogeneity in the individuals' genetics and environment, two factors difficult to control for. Imaging genetic animal models that recapitulate a mutation associated with autism quantify the impact of genetics on brain morphology and mitigate the confounding factors in human studies. Here, we used MRI to image three genetic mouse models with single mutations implicated in autism: Neuroligin-3 R451C knock-in, Methyl-CpG binding protein-2 (MECP2) 308-truncation and integrin 3 homozygous knockout. This study identified the morphological differences specific to the cerebellum, a structure repeatedly linked to autism in human neuroimaging and postmortem studies. To accomplish a comparative analysis, a segmented cerebellum template was created and used to segment each study image. This template delineated 39 different cerebellar structures. For Neuroligin-3 R451C male mutants, the gray (effect size (ES)=1.94, FDRq=0.03) and white (ES=1.84, q=0.037) matter of crus II lobule and the gray matter of the paraflocculus (ES=1.45, q=0.045) were larger in volume. The MECP2 mutant mice had cerebellar volume changes that increased in scope depending on the genotype: hemizygous males to homozygous females. The integrin 3 mutant mouse had a drastically smaller cerebellum than controls with 28 out of 39 cerebellar structures smaller. These imaging results are discussed in relation to repetitive behaviors, sociability, and learning in the context of autism. This work further illuminates the cerebellum's role in autism. Autism Res 2014, 7: 124-137. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Steadman, Patrick E.; Ellegood, Jacob; Henkelman, R. Mark; Lerch, Jason P.] Hosp Sick Children, Mouse Imaging Ctr, Toronto, ON M5T 3H7, Canada.
[Steadman, Patrick E.; Henkelman, R. Mark; Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
[Szulc, Kamila U.; Turnbull, Daniel H.] Skirball Inst Biomol Med, New York, NY USA.
[Szulc, Kamila U.; Turnbull, Daniel H.] NYU, Dept Radiol, Sch Med, New York, NY 10016 USA.
[Joyner, Alexandra L.] Mem Sloan Kettering Canc Ctr, Dept Dev Biol, New York, NY 10021 USA.
RP Steadman, PE (reprint author), Hosp Sick Children, Mouse Imaging Ctr, 25 Orde St, Toronto, ON M5T 3H7, Canada.
EM patrick.steadman@mail.utoronto.ca
RI Henkelman, Mark/F-3662-2011
FU CIHR [MOP-106418]; OBI [IDS-11-02]
FX Grant sponsor CIHR; Grant number: MOP-106418, Grant sponsor OBI; Grant
number: IDS-11-02.
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NR 71
TC 4
Z9 4
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 FEB
PY 2014
VL 7
IS 1
BP 124
EP 137
DI 10.1002/aur.1344
PG 14
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300013
PM 24151012
ER
PT J
AU Kovac, J
Luksic, MM
Podkrajsek, KT
Klancar, G
Battelino, T
AF Kovac, Jernej
Luksic, Marta Macedoni
Podkrajsek, Katarina Trebusak
Klancar, Gasper
Battelino, Tadej
TI Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the
Superoxide Dismutase Genes in Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder; superoxide dismutase; genetic variants;
oxidative stress; ROS
ID DE-NOVO MUTATIONS; INCREASED OXIDATIVE STRESS; METHYLATION; GENETICS;
DISEASE; ASSOCIATION; ANTIOXIDANT; GLUTATHIONE; BIOMARKERS; CHILDREN
AB Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population approximate to 5%. The SNP c.239+34A>C (rs2234694) and SNP g.3341C>G (rs36233090) were detected with an odds ratio of 2.65 and P<0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. Autism Res 2014, 7: 138-144. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Kovac, Jernej; Klancar, Gasper; Battelino, Tadej] Univ Childrens Hosp, UMC Ljubljana, Dept Endocrinol Diabet & Metab Dis, SI-1000 Ljubljana, Slovenia.
[Luksic, Marta Macedoni] Univ Childrens Hosp, UMC Ljubljana, Dept Child Adolescent & Dev Neurol, Ctr Autism, SI-1000 Ljubljana, Slovenia.
[Podkrajsek, Katarina Trebusak] Univ Childrens Hosp, UMC Ljubljana, Ctr Med Genet, SI-1000 Ljubljana, Slovenia.
RP Battelino, T (reprint author), Univ Childrens Hosp, UMC Ljubljana, Dept Endocrinol Diabet & Metab Dis, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia.
EM tadej.battelino@mf.uni-lj.si
FU Slovenian National Research Agency [J3-2412, P3-0343]
FX This study was supported by the Slovenian National Research Agency
grants J3-2412 and P3-0343. No potential conflicts of interest relevant
to this article were reported.
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NR 45
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 FEB
PY 2014
VL 7
IS 1
BP 138
EP 144
DI 10.1002/aur.1345
PG 7
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300014
PM 24155217
ER
PT J
AU Yoo, HJ
Bahn, G
Cho, IH
Kim, EK
Kim, JH
Min, JW
Lee, WH
Seo, JS
Jun, SS
Bong, G
Cho, S
Shin, MS
Kim, BN
Kim, JW
Park, S
Laugeson, EA
AF Yoo, Hee-Jeong
Bahn, Geonho
Cho, In-Hee
Kim, Eun-Kyung
Kim, Joo-Hyun
Min, Jung-Won
Lee, Won-Hye
Seo, Jun-Seong
Jun, Sang-Shin
Bong, Guiyoung
Cho, Soochurl
Shin, Min-Sup
Kim, Bung-Nyun
Kim, Jae-Won
Park, Subin
Laugeson, Elizabeth A.
TI A Randomized Controlled Trial of the Korean Version of the PEERS (R)
Parent-Assisted Social Skills Training Program for Teens With ASD
SO AUTISM RESEARCH
LA English
DT Article
DE social skills intervention; intervention; clinical psychiatry;
adolescents; pediatrics
ID AUTISM SPECTRUM DISORDERS; COGNITIVE-BEHAVIORAL THERAPY; HEALTH-CARE;
CHILDREN; ANXIETY; ADOLESCENTS; DEPRESSION; MOTHERS; INTERVENTION;
INVENTORY
AB Impaired social functioning is a hallmark feature of autism spectrum disorder (ASD), often requiring treatment throughout the life span. PEERS (R) (Program for the Education and Enrichment of Relational Skills) is a parent-assisted social skills training for teens with ASD. Although PEERS (R) has an established evidence base in improving the social skills of adolescents and young adults with ASD in North America, the efficacy of this treatment has yet to be established in cross-cultural validation trials. The objective of this study is to examine the feasibility and treatment efficacy of a Korean version of PEERS (R) for enhancing social skills through a randomized controlled trial (RCT).The English version of the PEERS (R) Treatment Manual (Laugeson & Frankel, 2010) was translated into Korean and reviewed by 21 child mental health professionals. Items identified as culturally sensitive were surveyed by 447 middle school students, and material was modified accordingly. Participants included 47 teens between 12 and 18 years of age with a diagnosis of ASD and a verbal intelligence quotient (IQ)65. Eligible teens were randomly assigned to a treatment group (TG) or delayed treatment control group (CG). Primary outcome measures included questionnaires and direct observations quantifying social ability and problems directly related to ASD. Secondary outcome measures included scales for depressive symptoms, anxiety, and other behavioral problems. Rating scales for parental depressive symptoms and anxiety were examined to detect changes in parental psychosocial functioning throughout the PEERS (R) treatment. Independent samples t-tests revealed no significant differences at baseline across the TG and CG conditions with regard to age (14.04 +/- 1.64 and 13.54 +/- 1.50 years), IQ (99.39 +/- 18.09 & 100.67 +/- 16.97), parental education, socioeconomic status, or ASD symptoms (p<0.05), respectively. Results for treatment outcome suggest that the TG showed significant improvement in communication and social interaction domain scores on the Autism Diagnostic Observation Schedule, interpersonal relationship and play/leisure time on the subdomain scores of the Korean version of the Vineland Adaptive Behavior Scale (p's<0.01), social skills knowledge total scores on the Test of Adolescent Social Skills KnowledgeRevised (p<0.01), and decreased depressive symptoms on the Child Depression Inventory following treatment (p<0.05). Analyses of parental outcome reveal a significant decrease in maternal state anxiety in the TG after controlling for potential confounding variables (p<0.05). Despite cultural and linguistic differences, the PEERS (R) social skills intervention appears to be efficacious for teens with ASD in Korea with modest cultural adjustment. In an RCT, participants receiving the PEERS (R) treatment showed significant improvement in social skills knowledge, interpersonal skills, and play/leisure skills, as well as a decrease in depressive symptoms and ASD symptoms. This study represents one of only a few cross-cultural validation trials of an established evidence-based treatment for adolescents with ASD. Autism Res2014, 7: 145-161. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Yoo, Hee-Jeong; Bong, Guiyoung] Seoul Natl Univ, Dept Psychiat, Bundang Hosp, Songnam, South Korea.
[Yoo, Hee-Jeong; Kim, Joo-Hyun; Cho, Soochurl; Shin, Min-Sup; Kim, Bung-Nyun; Kim, Jae-Won] Seoul Natl Univ, Coll Med, Seoul, South Korea.
[Yoo, Hee-Jeong; Bong, Guiyoung] Seongnam Child & Adolescent Community Mental Hlth, Songnam, South Korea.
[Bahn, Geonho] Kyung Hee Univ, Med Ctr, Dept Psychiat, Seoul, South Korea.
[Bahn, Geonho] Kyung Hee Univ, Sch Med, Dept Psychiat, Seoul, South Korea.
[Cho, In-Hee] Samsung Child Dev Res Ctr, Songnam, South Korea.
[Kim, Eun-Kyung; Jun, Sang-Shin] Dankook Univ, Dept Special Educ, Yongin, South Korea.
[Min, Jung-Won] Younghwa Hosp, Dept Psychiat, Inchon, South Korea.
[Lee, Won-Hye] Seoul Natl Univ Hosp, Dept Clin Psychol, Seoul 110744, South Korea.
[Seo, Jun-Seong] Gacheon Univ, Dept Psychiat, Gil Hosp, Inchon, South Korea.
[Cho, Soochurl; Shin, Min-Sup; Kim, Bung-Nyun; Kim, Jae-Won; Park, Subin] Seoul Natl Univ Hosp, Dept Child & Adolescent Psychiat, Seoul 110744, South Korea.
[Laugeson, Elizabeth A.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90024 USA.
RP Laugeson, EA (reprint author), Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, 760 Westwood Plaza,Ste 48-243B, Los Angeles, CA 90024 USA.
EM elaugeson@mednet.ucla.edu
FU Seoul National University Bundang Hospital [02-2011-047]; Korea
Healthcare Technology R&D Project from the Ministry of Health and
Welfare, Republic of Korea [A120029]
FX We are grateful to the teens and families who participated in this
study. The authors thank the Medical Research Collaborating Center at
Seoul National University Bundang Hospital for statistical analyses.
This work was supported by a research grant (number 02-2011-047) from
Seoul National University Bundang Hospital and Korea Healthcare
Technology R&D Project (A120029) from the Ministry of Health and
Welfare, Republic of Korea. Dr. Elizabeth Laugeson receives royalties
from Routledge for sales of the PEERS (R) Treatment Manual. Dr. Hee
Jeong Yoo receives royalties from Hakjisa for sales of the Korean
versions of Autism Diagnostic Observation Scale and Social Communication
Questionnaire.
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NR 61
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 FEB
PY 2014
VL 7
IS 1
BP 145
EP 161
DI 10.1002/aur.1354
PG 17
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300015
PM 24408892
ER
PT J
AU Sesarini, CV
Costa, L
Naymark, M
Granana, N
Cajal, AR
Coto, MG
Pallia, RC
Argibay, PF
AF Sesarini, Carla V.
Costa, Lucas
Naymark, Muriel
Granana, Nora
Cajal, Andrea R.
Garcia Coto, Miguel
Pallia, Roberto C.
Argibay, Pablo F.
TI Evidence for Interaction Between Markers in GABA(A) Receptor Subunit
Genes in an Argentinean Autism Spectrum Disorder Population
SO AUTISM RESEARCH
LA English
DT Article
DE autism spectrum disorder (ASD); GABA(A) receptor subunits polymorphisms;
multifactor dimensionality reduction method; Argentinean population
ID LINKAGE-DISEQUILIBRIUM; EPILEPSY; ASSOCIATION; SUSCEPTIBILITY;
15Q11-Q13; ABSENCE
AB Autism spectrum disorders (ASD) can be conceptualized as a genetic dysfunction that disrupts development and function of brain circuits mediating social cognition and language. At least some forms of ASD may be associated with high level of excitation in neural circuits, and gamma-aminobutyric acid (GABA) has been implicated in its etiology. Single-nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened. A hundred and thirty-six Argentinean ASD patients and 150 controls were studied, and the contribution of the SNPs in the etiology of ASD was evaluated independently and/or through gene-gene interaction using multifactor dimensionality reduction (MDR) method. From the 18 SNP studied, 11 were not present in our Argentinean population (patients and controls) and 1 SNP had minor allele frequency <0.1%. For the remaining six SNPs, none provided statistical significant association with ASD when considering allelic or genotypic frequencies. Non-significant association with ASD was found for the haplotype analysis. MDR identified evidence for synergy between markers in GABRB3 (chromosome 15) and GABRD (chromosome 1), suggesting potential gene-gene interaction across chromosomes associated with increased risk for autism (testing balanced accuracy: 0.6081 and cross-validation consistency: 10/10, P<0.001). Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism, most likely via complex gene-gene interactions. Autism Res2014, 7: 162-166. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Sesarini, Carla V.; Costa, Lucas; Cajal, Andrea R.; Argibay, Pablo F.] CABA, ICBME, Buenos Aires, DF, Argentina.
[Naymark, Muriel; Pallia, Roberto C.] Hosp Italiano Buenos Aires, CABA, Buenos Aires, DF, Argentina.
[Granana, Nora] Hosp Durand, CABA, Buenos Aires, DF, Argentina.
[Garcia Coto, Miguel] CABA, Ctr Invest Desarrollo Psiconeurol CIDEP, Buenos Aires, DF, Argentina.
RP Argibay, PF (reprint author), Hosp Italiano Buenos Aires, ICBME, CABA, Potosi 4240,C1199ACL, Buenos Aires, DF, Argentina.
EM pablo.argibay@hospitalitaliano.org.ar
FU Fundacion para el Desarrollo de las Ciencias Basicas (FUCIBA)
FX Children and their parents involved in this study are gratefully
acknowledged. Mariana Sigstad (Instituto Kanner), Marcelo Aguero
(Fundacion TIPNEA), Pia Espoueys (Fundacion "Nuestro Angel"), and Flavia
Caligiuri (CETDIN) are thanked for collecting samples. Nicolas Quiroz is
gratefully acknowledged for graphics design. Fundacion para el
Desarrollo de las Ciencias Basicas (FUCIBA) is gratefully thanked for it
generous financial support.
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NR 23
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 FEB
PY 2014
VL 7
IS 1
BP 162
EP 166
DI 10.1002/aur.1353
PG 5
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300016
PM 24249596
ER
PT J
AU Bolte, S
de Schipper, E
Robison, JE
Wong, VCN
Selb, M
Singhal, N
de Vries, PJ
Zwaigenbaum, L
AF Bolte, Sven
de Schipper, Elles
Robison, John E.
Wong, Virginia C. N.
Selb, Melissa
Singhal, Nidhi
de Vries, Petrus J.
Zwaigenbaum, Lonnie
TI Classification of Functioning and Impairment: The Development of ICF
Core Sets for Autism Spectrum Disorder
SO AUTISM RESEARCH
LA English
DT Article
DE neurodevelopmental disorders; autistic disorder; assessment; children
and youth; psychiatry; mental health; health care; ICF; ICF Core Set
ID INTERNATIONAL-CLASSIFICATION; REHABILITATION-MEDICINE; CHILDREN;
POPULATION; HEALTH; COMORBIDITY; PREVALENCE; DISABILITY; SAMPLE; ADULTS
AB Given the variability seen in Autism Spectrum Disorder (ASD), accurate quantification of functioning is vital to studying outcome and quality of life in affected individuals. The International Classification of Functioning, Disability and Health (ICF) provides a comprehensive, universally accepted framework for the description of health-related functioning. ICF Core Sets are shortlists of ICF categories that are selected to capture those aspects of functioning that are most relevant when describing a person with a specific condition. In this paper, the authors preview the process for developing ICF Core Sets for ASD, a collaboration with the World Health Organization and the ICF Research Branch. The ICF Children and Youth version (ICF-CY) was derived from the ICF and designed to capture the specific situation of the developing child. As ASD affects individuals throughout the life span, and the ICF-CY includes all ICF categories, the ICF-CY will be used in this project (ICF(-CY) from now on). The ICF(-CY) categories to be included in the ICF Core Sets for ASD will be determined at an ICF Core Set Consensus Conference, where evidence from four preparatory studies (a systematic review, an expert survey, a patient and caregiver qualitative study, and a clinical cross-sectional study) will be integrated. Comprehensive and Brief ICF Core Sets for ASD will be developed with the goal of providing useful standards for research and clinical practice and generating a common language for functioning and impairment in ASD in different areas of life and across the life span. Autism Res 2014, 7: 167-172. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
C1 [Bolte, Sven; de Schipper, Elles] Ctr Neurodev Disorders KIND, Dept Womens & Childrens Hlth, Neuropsychiat Unit, Stockholm, Sweden.
[Bolte, Sven] Stockholm Cty Council, Div Child & Adolescent Psychiat, Stockholm, Sweden.
[Robison, John E.] US Dept HHS, Interagcy Autism Coordinating Comm, Washington, DC 20201 USA.
[Wong, Virginia C. N.] Univ Hong Kong, Div Pediat Neurol Dev Behav Paediat & NeuroHabili, Dept Pediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China.
[Selb, Melissa] DIMDI, WHO Collaborating Ctr Family Int Classificat Germ, ICF Res Branch, Nottwil, Switzerland.
[Selb, Melissa] Swiss Parapleg Res SPF, Nottwil, Switzerland.
[Singhal, Nidhi] Act Autism, New Delhi, India.
[de Vries, Petrus J.] Univ Cape Town, Div Child & Adolescent Psychiat, ZA-7925 Cape Town, South Africa.
[Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Edmonton, AB, Canada.
RP de Schipper, E (reprint author), Gavlegatan 22B,Plan 8, S-11330 Stockholm, Sweden.
EM elles.de.schipper@ki.se
FU Swedish Research Council [523-2009-7054]; VINNOVA [259-2012-24]; FAS;
FORMAS
FX The development of ICF Core Sets for ASD is supported by the Swedish
Research Council (grant nr. 523-2009-7054), and the Swedish Research
Council in partnership with FAS, FORMAS and VINNOVA (cross-disciplinary
research program concerning children's and youth's mental health, grant
nr. 259-2012-24).
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WHO, 2003, ICF CHECKL VERS 2 1A
World Health Organisation, 2001, INT CLASS FUNCT DIS
World Health Organization, 1992, INT CLASS DIS DIAGN
World Health Organization (WHO), 2007, INT CLASS FUNCT DIS
NR 34
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1939-3792
EI 1939-3806
J9 AUTISM RES
JI Autism Res.
PD FEB
PY 2014
VL 7
IS 1
BP 167
EP 172
DI 10.1002/aur.1335
PG 6
WC Behavioral Sciences; Psychology, Developmental
SC Behavioral Sciences; Psychology
GA AB3PI
UT WOS:000331702300017
PM 24124074
ER
PT J
AU Ashburner, JK
Rodger, SA
Ziviani, JM
Hinder, EA
AF Ashburner, Jill K.
Rodger, Sylvia A.
Ziviani, Jenny M.
Hinder, Elizabeth A.
TI Optimizing participation of children with autism spectrum disorder
experiencing sensory challenges: A clinical reasoning framework
SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE
LA English
DT Article
DE Asperger syndrome; Autistic disorder; Client-centred enablement;
Clinical reasoning; Sensation
ID WEIGHTED VESTS; INTELLECTUAL DISABILITIES; ACADEMIC ENGAGEMENT;
PRESCHOOL-CHILDREN; SOCIAL ATTENTION; PROBLEM BEHAVIOR; YOUNG-CHILDREN;
CLASSROOM; INDIVIDUALS; INTEGRATION
AB Background. Remedial sensory interventions currently lack supportive evidence and can be challenging to implement for families and clinicians. It may be timely to shift the focus to optimizing participation of children with autism spectrum disorders (ASD) through accommodation and self-regulation of their sensory differences. Purpose. A framework to guide practitioners in selecting strategies is proposed based on clinical reasoning considerations, including (a) research evidence, (b) client-and family-centredness, (c) practice contexts, (d) occupation-centredness, and (e) risks. Key issues. Information-sharing with families and coaching constitute the basis for intervention. Specific strategies are identified where sensory aversions or seeking behaviours, challenges with modulation of arousal, or sensory-related behaviours interfere with participation. Self-regulatory strategies are advocated. The application of universal design principles to shared environments is also recommended. Implications. The implications of this framework for future research, education, and practice are discussed. The clinical utility of the framework now needs to be tested.
C1 [Ashburner, Jill K.] Autism Queensland, Res & Dev, Sunnybank, Qld 4109, Australia.
[Ashburner, Jill K.; Ziviani, Jenny M.] Univ Queensland, Sch Hlth & Rehabil Sci, Brisbane, Qld 4072, Australia.
[Rodger, Sylvia A.] Univ Queensland, Sch Hlth & Rehabil Sci, Div Occupat Therapy, Brisbane, Qld 4072, Australia.
[Ziviani, Jenny M.] Queensland Hlth, Childrens Allied Hlth Res, Brisbane, Qld, Australia.
[Hinder, Elizabeth A.] Darling Downs South West Queensland Reg Off, Dept Educ Training & Employment, Toowoomba, Qld 4350, Australia.
RP Ashburner, JK (reprint author), Autism Queensland, POB 354, Sunnybank, Qld 4109, Australia.
EM jill.ashburner@autismqld.com.au
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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 0008-4174
EI 1911-9828
J9 CAN J OCCUP THER
JI Can. J. Occup. Ther.
PD FEB
PY 2014
VL 81
IS 1
BP 29
EP 38
DI 10.1177/0008417413520440
PG 10
WC Rehabilitation
SC Rehabilitation
GA AC2DU
UT WOS:000332309100005
PM 24783486
ER
PT J
AU Bagatell, NJ
Cram, M
Alvarez, CG
Loehle, L
AF Bagatell, Nancy J.
Cram, Megan
Alvarez, Christian G.
Loehle, Laura
TI Routines of families with adolescents with autistic disorders: A
comparison study
SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE
LA English
DT Article
DE Adolescents; Autism spectrum disorders; Family; Mealtime; Routines
ID SPECTRUM DISORDER; CHILDREN; RITUALS; ADULTS; INVENTORY; MOTHERS;
CONTEXT
AB Background. Research has consistently shown that families with children with autism spectrum disorders (ASD) have difficulty engaging in family routines, yet little is known about families with adolescents with ASD. Purpose. The purpose of this study is to compare the routines of families with adolescents with ASD (FASD) and families with typically developing adolescents. Method. Twenty families in each group were compared using the Family Routines Inventory and supplemental questions. Data were analyzed using a Mann-Whitney U and content analysis. Findings. No significant difference between groups was found; however, there was a trending toward significance in the subscale of mealtime routines in both endorsement and adherence. Analysis of open-ended questions revealed differences in how routines were carried out. Implications. Occupational therapists should consider assessing and addressing routines of importance to FASD to increase family health and well-being. Further research is needed to better understand the routines of FASD.
C1 [Bagatell, Nancy J.] Univ N Carolina, Chapel Hill, NC 27599 USA.
[Bagatell, Nancy J.] Quinnipiac Univ, Sch Hlth Sci, Dept Occupat Therapy, Hamden, CT USA.
[Cram, Megan; Alvarez, Christian G.; Loehle, Laura] Quinnipiac Univ, Hamden, CT USA.
[Alvarez, Christian G.] Westport Hlth Care Ctr, Stamford, CT USA.
RP Bagatell, NJ (reprint author), Univ N Carolina, Bondurant Hall Suite 2050,CB 7122, Chapel Hill, NC 27599 USA.
EM nancy_bagatell@med.unc.edu
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NR 23
TC 0
Z9 0
PU CANADIAN ASSOC OCCUPATIONAL THERAPISTS
PI OTTAWA
PA CTTC BLDG, 3400-1125 COLONEL BY DRIVE, OTTAWA, ONTARIO K1S 5R1, CANADA
SN 0008-4174
EI 1911-9828
J9 CAN J OCCUP THER
JI Can. J. Occup. Ther.
PD FEB
PY 2014
VL 81
IS 1
BP 62
EP 67
DI 10.1177/0008417414520691
PG 6
WC Rehabilitation
SC Rehabilitation
GA AC2DU
UT WOS:000332309100010
PM 24783489
ER
PT J
AU Hobert, JA
Embacher, R
Mester, JL
Frazier, TW
Eng, C
AF Hobert, Judith A.
Embacher, Rebecca
Mester, Jessica L.
Frazier, Thomas W., II
Eng, Charis
TI Biochemical screening and PTEN mutation analysis in individuals with
autism spectrum disorders and macrocephaly
SO EUROPEAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
DE PTEN; autism spectrum disorder; macrocephaly; Cowden syndrome
ID PREVALENCE; CHILDREN; GENE
AB Unlike some other childhood neurodevelopmental disorders, no diagnostic biochemical marker has been identified in all individuals with an autism spectrum disorder (ASD). This deficit likely results from genetic heterogeneity among the population. Therefore, we evaluated a subset of individuals with ASDs, specifically, individuals with or without macrocephaly in the presence or absence of PTEN mutations. We sought to determine if amino or organic acid markers could be used to identify individuals with ASDs with or without macrocephaly in the presence or absence of PTEN mutations, and to establish the degree of macrocephaly in individuals with ASDs and PTEN mutation. Urine, blood and occipital-frontal circumference (OFC) measurements were collected from 69 individuals meeting DSM-IV-TR criteria. Urine and plasma samples were subjected to amino and organic acid analyses. PTEN was Sanger-sequenced from germline genomic DNA. Germ line PTEN mutations were identified in 27% (6/22) of the macrocephalic ASD population. All six PTEN mutation-positive individuals were macrocephalic with average OFC + 4.35 standard deviations (SDs) above the mean. No common biochemical abnormalities were identified in macrocephalic ASD individuals with or without PTEN mutations. In contrast, among the collective ASD population, elevation of urine aspartic acid (87%; 54/62), plasma taurine (69%; 46/67) and reduction of plasma cystine (72%; 46/64) were observed. PTEN sequencing should be carried out for all individuals with ASDs and macrocephaly with OFC >= 2SDs above the mean. A proportion of individuals with ASDs may have an underlying disorder in sulfur amino acid metabolism.
C1 [Hobert, Judith A.; Mester, Jessica L.; Frazier, Thomas W., II; Eng, Charis] Cleveland Clin, Lerner Res Inst, Genom Med Inst, Cleveland, OH 44195 USA.
[Embacher, Rebecca; Frazier, Thomas W., II] Cleveland Clin, Inst Pediat, Ctr Autism, Cleveland, OH 44195 USA.
[Mester, Jessica L.; Eng, Charis] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44195 USA.
[Eng, Charis] Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH USA.
[Eng, Charis] Case Western Reserve Univ, Sch Med, CASE Comprehens Canc Ctr, Cleveland, OH USA.
RP Eng, C (reprint author), Cleveland Clin, Lerner Res Inst, Genom Med Inst, 9500 Euclid Ave,NE 50, Cleveland, OH 44195 USA.
EM engc@ccf.org
FU Pediatrics Institute Strategic Investment Funds; Cleveland Clinic;
Breast Cancer Research Foundation; Sondra J and Stephen R Hardis Endowed
Chair of Cancer Genomic Medicine at the Cleveland Clinic; American
Cancer Society Clinical Research Professorship; FM Kirby Foundation
FX We wish to acknowledge the contributions of the Genomic Medicine
Biorepository, Genomic Medicine Institute, Cleveland Clinic for
preparation of genomic DNA, and processing of blood and urine samples,
the Eng lab and the Genomics Core Facility, Genomic Medicine Institute,
Cleveland Clinic, for PCR-based Sanger sequencing and MLPA analyses.
This work was funded in part, by the Pediatrics Institute Strategic
Investment Funds, Cleveland Clinic (to TWF) and Breast Cancer Research
Foundation (to CE). CE is the Sondra J and Stephen R Hardis Endowed
Chair of Cancer Genomic Medicine at the Cleveland Clinic, and holds an
American Cancer Society Clinical Research Professorship, generously
funded, in part, by the FM Kirby Foundation.
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
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NR 27
TC 6
Z9 6
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 FEB
PY 2014
VL 22
IS 2
BP 273
EP 276
DI 10.1038/ejhg.2013.114
PG 4
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA 299SK
UT WOS:000330415800023
PM 23695273
ER
PT J
AU Idring, S
Magnusson, C
Lundberg, M
Ek, M
Rai, D
Svensson, AC
Dalman, C
Karlsson, H
Lee, BK
AF Idring, Selma
Magnusson, Cecilia
Lundberg, Michael
Ek, Mats
Rai, Dheeraj
Svensson, Anna C.
Dalman, Christina
Karlsson, Hakan
Lee, Brian K.
TI Parental age and the risk of autism spectrum disorders: findings from a
Swedish population-based cohort
SO INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
LA English
DT Article
DE Autism spectrum disorders; intellectual disability; risk factors;
parental age
ID DE-NOVO MUTATIONS; ADVANCED PATERNAL AGE; MATERNAL AGE; COMPREHENSIVE
METAANALYSIS; OBSTETRIC COMPLICATIONS; GERM-CELLS; CHILDREN; BIRTH;
CHILDBEARING; EPIDEMIOLOGY
AB Methods: The sample consisted of 417 303 Swedish children born 1984-2003. ASD case status (N = 4746) was ascertained using national and regional registers. Smoothing splines in generalized additive models were used to estimate associations of parental age with ASD.
Results: Whereas advancing parental age increased the risk of child ASD, maternal age effects were non-linear and paternal age effects were linear. Compared with mothers at the median age 29 years, those < 29 had similar risk, whereas risk increased after age 30, with an odds ratio (OR) of 1.75 [95% (CI): 1.63-1.89] at ages 40-45. For fathers, compared with the median age of 32 years, the OR for ages 55-59 was 1.39 (1.29-1.50). The risk of ASD was greater for older mothers as compared with older fathers. For example, mothers aged 40-45 (epsilon 97.2th percentile) had an estimated 18.63 (95% CI: 17.25-20.01) ASD cases per 1000 births, whereas fathers aged 55-59 (epsilon 99.7th percentile) had 16.35 (95% CI: 15.11-17.58) ASD cases per 1000 births. In analyses stratified by co-parental age, increased risk due to advancing paternal age was evident only with mothers 35 years. In contrast, advancing maternal age increased risk regardless of paternal age. Advancing parental age was more strongly associated with ASD with ID, compared with ASD without ID.
Conclusions: We confirm prior findings that advancing parental age increases risk of ASD, particularly for ASD with ID, in a manner dependent on co-parental age. Although recent attention has emphasized the effects of older fathers on ASD risk, an increase of n years in maternal age has greater implications for ASD risk than a similar increase in paternal age.
C1 [Idring, Selma; Magnusson, Cecilia; Lundberg, Michael; Ek, Mats; Rai, Dheeraj; Svensson, Anna C.; Dalman, Christina] Karolinska Inst, Dept Publ Hlth Sci, SE-17177 Stockholm, Sweden.
[Idring, Selma] Stockholm Cty Council, Neurodev Psychiat Unit, Stockholm, Sweden.
[Magnusson, Cecilia; Svensson, Anna C.; Dalman, Christina] Stockholm Cty Council, Ctr Epidemiol & Community Med, Stockholm, Sweden.
[Ek, Mats] Huddinge Psychosis Outpatient Unit, Stockholm, Sweden.
[Rai, Dheeraj] Univ Bristol, Sch Social & Community Med, Acad Unit Psychiat, Bristol, Avon, England.
[Rai, Dheeraj] Avon & Wiltshire Partnership NHS Mental Hlth Trus, Bristol, Avon, England.
[Karlsson, Hakan] Karolinska Inst, Dept Neurosci, Stockholm, Sweden.
[Lee, Brian K.] Drexel Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA.
[Lee, Brian K.] AJ Drexel Autism Inst, Philadelphia, PA USA.
RP Idring, S (reprint author), Karolinska Inst, Dept Publ Hlth Sci, Widerstromska Huset,Tomtebodavagen 18A, SE-17177 Stockholm, Sweden.
EM Selma.idring@ki.se
FU Stockholm County Council; Autism Speaks [7618]
FX Financial support was provided by Stockholm County Council, and Autism
Speaks grant #7618. None of the above-listed funding agencies were
involved in the study design, conduct of the research, data analysis and
interpretation or manuscript preparation.
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NR 52
TC 7
Z9 7
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0300-5771
EI 1464-3685
J9 INT J EPIDEMIOL
JI Int. J. Epidemiol.
PD FEB
PY 2014
VL 43
IS 1
BP 107
EP 115
DI 10.1093/ije/dyt262
PG 9
WC Public, Environmental & Occupational Health
SC Public, Environmental & Occupational Health
GA AC2ON
UT WOS:000332341300020
PM 24408971
ER
PT J
AU Traupe, H
Fischer, J
Oji, V
AF Traupe, Heiko
Fischer, Judith
Oji, Vinzenz
TI Nonsyndromic types of ichthyoses - an update
SO JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
LA English
DT Article
ID RECESSIVE CONGENITAL ICHTHYOSIS; POPULATION; MUTATIONS
AB Ichthyoses are genetically determined Mendelian disorders of cornification (MEDOC) that are characterized by universal scaling. Today we distinguish between non-syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1: 100) and is caused by autosomal semi-dominant filaggrin mutations. It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (similar to 20 %) or social communication deficits, such as attention deficit hyperactivity syndrome (40 %) or autism (25 %). Autosomal recessive congenital ichthyosis (ARCI) is genetically very heterogeneous and 8 different genes have been identified so far. The most frequent cause of ARCI is a transglutaminase 1 deficiency (prevalence 1:200, 000). Mutations in keratin genes are the cause of the keratinopathic ichthyoses, such as epidermolytic ichthyosis. They manifest at birth and often feature episodes of blistering. Most of these types are inherited as autosomal dominant traits, but autosomal recessive forms have also been described on occasion.
C1 [Traupe, Heiko; Oji, Vinzenz] Univ Munster, Dept Dermatol, D-48149 Munster, Germany.
[Fischer, Judith] Univ Hosp Freiburg, Inst Human Genet, Freiburg, Germany.
RP Traupe, H (reprint author), Univ Munster, Hautklin, Von Esmarch Str 58, D-48149 Munster, Germany.
EM traupeh@ukmuenster.de
CR Brown SJ, 2009, BRIT J DERMATOL, V61, P884
Elias PM, 2010, ICHTHYOSES CLIN BIOC
Fischer J, 2009, J INVEST DERMATOL, V129, P1319, DOI 10.1038/jid.2009.57
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NR 10
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1610-0379
EI 1610-0387
J9 J DTSCH DERMATOL GES
JI J. Dtsch. Dermatol. Ges.
PD FEB
PY 2014
VL 12
IS 2
BP 109
EP 121
DI 10.1111/ddg.12229
PG 13
WC Dermatology
SC Dermatology
GA AA7DI
UT WOS:000331256900002
PM 24119255
ER
PT J
AU Larson, T
Kerekes, N
Selinus, EN
Lichtenstein, P
Gumpert, CH
Anckarsater, H
Nilsson, T
Lundstrom, S
AF Larson, Tomas
Kerekes, Nora
Selinus, Eva Noren
Lichtenstein, Paul
Gumpert, Clara Hellner
Anckarsater, Henrik
Nilsson, Thomas
Lundstrom, Sebastian
TI RELIABILITY OF AUTISM-TICS, AD/HD, AND OTHER COMORBIDITIES (A-TAC)
INVENTORY IN A TEST-RETEST DESIGN
SO PSYCHOLOGICAL REPORTS
LA English
DT Article
ID DEFICIT HYPERACTIVITY DISORDER; RATING-SCALES; CHILD; VALIDITY; VERSION;
SAMPLE
AB The Autism-Tics, AD/HD, and other Comorbidities (A-TAC) inventory is used in epidemiological research to assess neurodevelopmental problems and coexisting conditions. Although the A-TAC has been applied in various populations, data on retest reliability are limited. The objective of the present study was to present additional reliability data. The A-TAC was administered by lay assessors and was completed on two occasions by parents of 400 individual twins, with an average interval of 70 days between test sessions. Intra-and inter-rater reliability were analysed with intraclass correlations and Cohen's kappa. A-TAC showed excellent test-retest intraclass correlations for both autism spectrum disorder and attention deficit hyperactivity disorder (each at .84). Most modules in the A-TAC had intra- and inter-rater reliability intraclass correlation coefficients of >=.60. Cohen's. indicated acceptable reliability. The current study provides statistical evidence that the A-TAC yields good test-retest reliability in a population-based cohort of children.
C1 [Larson, Tomas; Anckarsater, Henrik] Lund Univ, Dept Clin Sci, Malmo, Sweden.
[Kerekes, Nora; Anckarsater, Henrik; Nilsson, Thomas] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, Gothenburg, Sweden.
[Kerekes, Nora; Lundstrom, Sebastian] Swedish Prison & Probat Serv, R&D Unit, Norrkoping, Sweden.
[Selinus, Eva Noren; Gumpert, Clara Hellner] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
[Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
[Lundstrom, Sebastian] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden.
RP Larson, T (reprint author), Lund Univ, Dept Clin Sci, Malmo, Sweden.
EM tomas.larson@med.lu.se
RI Kerekes, Nora/C-6474-2009
CR American Psychiatric Association, 1994, DIAGNOSTIC AND STATI
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NR 19
TC 1
Z9 1
PU AMMONS SCIENTIFIC, LTD
PI MISSOULA
PA PO BOX 9229, MISSOULA, MT 59807-9229 USA
SN 0033-2941
J9 PSYCHOL REP
JI Psychol. Rep.
PD FEB
PY 2014
VL 114
IS 1
BP 93
EP 103
PG 11
WC Psychology, Multidisciplinary
SC Psychology
GA AB8WP
UT WOS:000332071000008
PM 24765712
ER
PT J
AU Jacobson, JD
Ellerbeck, KA
Kelly, KA
Fleming, KK
Jamison, TR
Coffey, CW
Smith, CM
Reese, RM
Sands, SA
AF Jacobson, Jill D.
Ellerbeck, Kathryn A.
Kelly, Kelsie A.
Fleming, Kandace K.
Jamison, T. Rene
Coffey, Charles W.
Smith, Catherine M.
Reese, R. Matthew
Sands, Scott A.
TI Evidence for alterations in stimulatory G proteins and oxytocin levels
in children with autism
SO PSYCHONEUROENDOCRINOLOGY
LA English
DT Article
DE Autism; G protein; Oxytocin; Signaling; Autism in early childhood; ADOS;
ADI-R
ID PITUITARY-ADRENAL ACTIVITY; RECURRENT ABDOMINAL-PAIN;
PSYCHIATRIC-DISORDERS; SPECTRUM DISORDERS; PLASMA OXYTOCIN; ANXIETY
BEHAVIOR; RECEPTOR; MODULATION; PATHOPHYSIOLOGY; VASOPRESSIN
AB The neurotransmitter oxytocin plays an important role in social affiliation. Low oxytocin levels and defects in the oxytocin receptor have been reported in childhood autism. However, little is known about oxytocin's post-receptor signaling pathways in autism. Oxytocin signals via stimulatory and inhibitory G proteins. c-fos mRNA expression has been used as a marker of OT signaling as well as of G protein signaling. Herein, we hypothesized that oxytocin and its signaling pathways would be altered in children with autism. We measured plasma oxytocin levels by ELISA, G-protein and c-fos mRNA by PCR, and G proteins by immunoblot in cultured peripheral blood mononuclear cells (PBMCs) in children with autism and in age-matched controls. Males with autism displayed elevated oxytocin levels compared to controls (p < 0.05). Children with autism displayed significantly higher mRNA for stimulatory G proteins compared to controls (p < 0.05). Oxytocin levels correlated strongly positively with c-fos mRNA levels, but only in control participants (p < 0.01). Oxytocin, G-protein, and c-fos mRNA levels correlated inversely with measures of social and emotional behaviors, but only in control participants. These data suggest that children with autism may exhibit a dysregulation in oxytocin and/or its signaling pathways. (C) 2013 Published by Elsevier Ltd.
C1 [Ellerbeck, Kathryn A.; Kelly, Kelsie A.; Jamison, T. Rene; Coffey, Charles W.; Smith, Catherine M.; Reese, R. Matthew] Univ Kansas, Sch Med, Ctr Child Hlth & Dev, Lawrence, KS 66045 USA.
[Fleming, Kandace K.] Univ Kansas, Life Span Inst, Res Design & Anal Unit, Lawrence, KS 66045 USA.
[Jacobson, Jill D.; Sands, Scott A.] Univ Missouri, Sch Med, Kansas City, MO 64108 USA.
RP Jacobson, JD (reprint author), Univ Missouri, Childrens Mercy Hosp & Clin, Sch Med, Div Endocrinol & Diabet,Dept Pediat, 2401 Gillhann Rd, Kansas City, MO 64108 USA.
EM jjacobson@cmh.edu
FU Cure Autism Now (now merged with Autism Speaks); University of Kansas
Medical Center GCRC grant [M01 RR 023940 NCRR/NIH]; Kansas Intellectual
and Developmental Disabilities Research Center (NICHD) [5 P30 HD002528];
Kansas Technology Enterprise Corporation (KTEC); Kansas Center for
Autism Research and Training (K-CART)
FX This work was supported in part by a Pilot Grant Award (to KAE) from
Cure Autism Now (now merged with Autism Speaks); by the University of
Kansas Medical Center GCRC grant M01 RR 023940 NCRR/NIH, the Kansas
Intellectual and Developmental Disabilities Research Center (NICHD; 5
P30 HD002528), by funding from the Kansas Technology Enterprise
Corporation (KTEC; JDJ and RAE, Co-Pis), and by a grant from Kansas
Center for Autism Research and Training (K-CART; JDJ and RAE, Co-Pis).
The funding sources did not critique the manuscript.
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NR 60
TC 3
Z9 3
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0306-4530
J9 PSYCHONEUROENDOCRINO
JI Psychoneuroendocrinology
PD FEB
PY 2014
VL 40
BP 159
EP 169
DI 10.1016/j.psyneuen.2013.11.014
PG 11
WC Endocrinology & Metabolism; Neurosciences; Psychiatry
SC Endocrinology & Metabolism; Neurosciences & Neurology; Psychiatry
GA AB6TB
UT WOS:000331921300019
PM 24485488
ER
PT J
AU Lai, JKY
Sobala-Drozdowski, M
Zhou, LH
Doering, LC
Faure, PA
Foster, JA
AF Lai, Jonathan K. Y.
Sobala-Drozdowski, Monica
Zhou, Linghong
Doering, Laurie C.
Faure, Paul A.
Foster, Jane A.
TI Temporal and spectral differences in the ultrasonic vocalizations of
fragile X knock out mice during postnatal development
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Ultrasonic vocalizations; Postnatal development; Spectral analysis;
Fragile X; Autism spectrum disorders
ID PRIMARY SOMATOSENSORY CORTEX; ANXIETY-LIKE BEHAVIOR; MOUSE MODEL;
DENDRITIC SPINES; SOCIAL-BEHAVIOR; MUTANT MOUSE; NEURODEVELOPMENTAL
DISORDERS; MATERNAL SEPARATION; UNUSUAL REPERTOIRE; INBRED STRAINS
AB The fmr1 knock out (1(0) mouse has been a useful animal model to understand pathology and treatment of FXS, both anatomically and behaviorally. Ultrasonic vocalizations (USVs) are a behavioral tool to assess early life communication deficits in mice. Here, we report on the temporal and spectral features of US Vs emitted after maternal separation in wild type (FVB/N) and fmr1 KO pups at postnatal days (P) P4, P7 and P10. The results show changes in the number and duration of calls in frnr1 KO pups and wild type pups were dependent on age and call type. Fmr1 KO pups showed an increased number of USVs at P7 but not at P4 or P10. This increase was specific to Frequency Jump calls. In addition, finr1 KO mice showed a developmental shift in the temporal distribution of calls, with P10 mice calling in distinct bout patterns. Overall, these findings provide evidence that changes in USV outcomes were specific to certain call types and ages in fmr1 KO mice. Because early postnatal life is a window during which multiple neural systems activate and become established, behavioral measures such as using USVs as a measure of communication, maybe useful as a predictor of brain changes and later developmental behavioral changes. Work is needed to better understand the functional outcomes of altered development of USVs and how these changes contribute to later emergence of autistic-like behaviors in animal models of autism. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Lai, Jonathan K. Y.; Zhou, Linghong; Foster, Jane A.] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8S 4L8, Canada.
[Sobala-Drozdowski, Monica; Faure, Paul A.] McMaster Univ, Dept Psychol Neurosci & Behav, Hamilton, ON L8S 4L8, Canada.
[Doering, Laurie C.] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON L8S 4L8, Canada.
RP Foster, JA (reprint author), McMaster Univ, St Josephs Healthcare, Brain Body Inst, Dept Psychiat & Behav Neurosci, 50 Charlton Ave E,T3308, Hamilton, ON L8N 4A6, Canada.
EM jfoster@mcmaster.ca
FU Natural Sciences and Engineering Research Council of Canada (NSERC);
Canada Foundation for Innovation; Ontario Innovation Trust; Canadian
Institute of Health Research
FX Funding for this study was provided by Discovery Grants from the Natural
Sciences and Engineering Research Council of Canada (NSERC - JAF and
PAF), and infrastructure grants from the Canada Foundation for
Innovation and the Ontario Innovation Trust (PAF). Graduate stipend
support (to JKYL) was provided by Canadian Institute of Health Research
- Vanier Scholarship.
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NR 96
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD FEB 1
PY 2014
VL 259
BP 119
EP 130
DI 10.1016/j.bbr.2013.10.049
PG 12
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB3CA
UT WOS:000331667700015
PM 24211451
ER
PT J
AU Bissonette, GB
Bae, MH
Suresh, T
Jaffe, DE
Powell, EM
AF Bissonette, Gregory B.
Bae, Mihyun H.
Suresh, Tejas
Jaffe, David E.
Powell, Elizabeth M.
TI Prefrontal cognitive deficits in mice with altered cerebral cortical
GABAergic interneurons
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE HGF/SF; Urokinase plasminogen activator receptor; Attentional set; Cued
extinction; Morris water maze; ID-ED shift
ID GROWTH FACTOR/SCATTER FACTOR; INBRED MOUSE STRAINS; ATTENTIONAL SET;
GANGLIONIC EMINENCES; NEUROTROPHIC FACTOR; C57BL/6 MICE; WATER MAZE;
C-MET; CORTEX; FEAR
AB Alterations of inhibitory GABAergic neurons are implicated in multiple psychiatric and neurological disorders, including schizophrenia, autism and epilepsy. In particular, interneuron deficits in prefrontal areas, along with presumed decreased inhibition, have been reported in several human patients. The majority of forebrain GABAergic interneurons arise from a single subcortical source before migrating to their final regional destination. Factors that govern the interneuron populations have been identified, demonstrating that a single gene mutation may globally affect forebrain structures or a single area. In particular, mice lacking the urokinase plasminogen activator receptor (Plaur) gene have decreased GABAergic interneurons in frontal and parietal, but not caudal, cortical regions. Plaur assists in the activation of hepatocyte growth factor/scatter factor (HGF/SF), and several of the interneuron deficits are correlated with decreased levels of HGF/SF. In some cortical regions, the interneuron deficit can be remediated by endogenous overexpression of HGF/SF. In this study, we demonstrate decreased parvalbumin-expressing interneurons in the medial frontal cortex, but not in the hippocampus or basal lateral amygdala in the Plaur null mouse. The Plaur null mouse demonstrates impaired medial frontal cortical function in extinction of cued fear conditioning and the inability to form attentional sets. Endogenous HGF/SF overexpression increased the number of PV-expressing cells in medial frontal cortical areas to levels greater than found in wildtype mice, but did not remediate the behavioral deficits. These data suggest that proper medial frontal cortical function is dependent upon optimum levels of inhibition and that a deficit or excess of interneuron numbers impairs normal cognition. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Bissonette, Gregory B.; Powell, Elizabeth M.] Univ Maryland, Program Neurosci, Baltimore, MD 21201 USA.
[Bae, Mihyun H.; Suresh, Tejas; Jaffe, David E.; Powell, Elizabeth M.] Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA.
[Powell, Elizabeth M.] Univ Maryland, Sch Med, Dept Psychiat, Baltimore, MD 21201 USA.
RP Powell, EM (reprint author), Univ Maryland, Sch Med, Dept Anat & Neurobiol, HSF II S251,20 Penn St, Baltimore, MD 21201 USA.
EM epowe001@umaryland.edu
FU NIH [R01 DA018826, R01 MH57689]; NARSAD Young Investigator Award
FX We thank Dr. Gabriela Martins for all her technical support and
scientific discussions. This work was supported by NIH R01 DA018826, R01
MH57689 and by a NARSAD Young Investigator Award.
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NR 66
TC 10
Z9 10
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD FEB 1
PY 2014
VL 259
BP 143
EP 151
DI 10.1016/j.bbr.2013.10.051
PG 9
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB3CA
UT WOS:000331667700018
PM 24211452
ER
PT J
AU Moy, SS
Riddick, NV
Nikolova, VD
Teng, BL
Agster, KL
Nonneman, RJ
Young, NB
Baker, LK
Nadler, JJ
Bodfish, JW
AF Moy, Sheryl S.
Riddick, Natallia V.
Nikolova, Viktoriya D.
Teng, Brian L.
Agster, Kara L.
Nonneman, Randal J.
Young, Nancy B.
Baker, Lorinda K.
Nadler, Jessica J.
Bodfish, James W.
TI Repetitive behavior profile and supersensitivity to amphetamine in the
C58/J mouse model of autism
SO BEHAVIOURAL BRAIN RESEARCH
LA English
DT Article
DE Autism spectrum disorder; Circumscribed interests; Hyperactivity; NMDA
receptor; Olfaction; SNP analysis
ID SENSORIMOTOR GATING ABNORMALITIES; NMDA RECEPTOR EXPRESSION;
FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; SOCIAL APPROACH; INBRED STRAINS;
CIRCUMSCRIBED ATTENTION; REDUCED EXPLORATION; PREPULSE INHIBITION;
KNOCKOUT MICE
AB Restricted repetitive behaviors are core symptoms of autism spectrum disorders (ASDs). The range of symptoms encompassed by the repetitive behavior domain includes lower-order stereotypy and self-injury, and higher-order indices of circumscribed interests and cognitive rigidity. Heterogeneity in clinical ASD profiles suggests that specific manifestations of repetitive behavior reflect differential neuropathology. The present studies utilized a set of phenotyping tasks to determine a repetitive behavior profile for the C58/J mouse strain, a model of ASD core symptoms. In an observational screen, C58/J demonstrated overt motor stereotypy, but not over-grooming, a commonly-used measure for mouse repetitive behavior. Amphetamine did not exacerbate motor stereotypy, but had enhanced stimulant effects on locomotion and rearing in C58/J, compared to C57BL/6J. Both C58/J and Grin1 knockdown mice, another model of ASD-like behavior, had marked deficits in marble-burying. In a nose poke task for higher-order repetitive behavior, C58/J had reduced holeboard exploration and preference for non-social, versus social, olfactory stimuli, but did not demonstrate cognitive rigidity following familiarization to an appetitive stimulus. Analysis of available high-density genotype data indicated specific regions of divergence between C58/J and two highly-sociable strains with common genetic lineage. Strain genome comparisons identified autism candidate genes, including Cntnap2 and Slc6a4, located within regions divergent in C58/J. However, Grin1, Nlgn1, Sapap3, and Slitrk5, genes linked to repetitive over-grooming, were not in regions of divergence. These studies suggest that specific repetitive phenotypes can be used to distinguish ASD mouse models, with implications for divergent underlying mechanisms for different repetitive behavior profiles. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Moy, Sheryl S.; Riddick, Natallia V.; Teng, Brian L.; Agster, Kara L.; Nonneman, Randal J.; Young, Nancy B.; Baker, Lorinda K.; Nadler, Jessica J.; Bodfish, James W.] Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27599 USA.
[Moy, Sheryl S.; Riddick, Natallia V.; Nikolova, Viktoriya D.; Agster, Kara L.; Young, Nancy B.; Baker, Lorinda K.; Bodfish, James W.] Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27599 USA.
[Teng, Brian L.] Univ N Carolina, Sch Med, Dept Chem Biol & Med Chem, Chapel Hill, NC 27599 USA.
[Nonneman, Randal J.; Nadler, Jessica J.] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA.
RP Moy, SS (reprint author), Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, CB 7146, Chapel Hill, NC 27599 USA.
EM ssmoy@med.unc.edu
FU NIMH [MH084132, MH080069, MH73402]; NICHD [P30 HD03110]; NIH STAART [U54
MH66418]; Autism Speaks Translational Postdoctoral Fellowship [7952]
FX Support for these studies was contributed by NIMH grants MH084132,
MH080069, MH73402, NICHD grant P30 HD03110, and NIH STAART grant U54
MH66418. Brian L. Teng was funded by an Autism Speaks Translational
Postdoctoral Fellowship (#7952). These sponsors did not have involvement
in study design, data collection, analysis, or interpretation, writing
the report, or decision to submit the article for publication. We are
grateful for the contribution of Leah Jania and Rebecca Dye, who
conducted the genotyping assays for the Grin1 mice.
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NR 78
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0166-4328
EI 1872-7549
J9 BEHAV BRAIN RES
JI Behav. Brain Res.
PD FEB 1
PY 2014
VL 259
BP 200
EP 214
DI 10.1016/j.bbr.2013.10.052
PG 15
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AB3CA
UT WOS:000331667700025
PM 24211371
ER
PT J
AU Anderson, G
Maes, M
AF Anderson, George
Maes, Michael
TI Reconceptualizing Adult Neurogenesis: Role for Sphingosine-1-Phosphate
and Fibroblast Growth Factor-1 in Co-Ordinating Astrocyte-Neuronal
Precursor Interactions
SO CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
LA English
DT Article
DE Neurogenesis; sphingosine-1-phosphate; fibroblast growth factor 1;
melatonin; astrocyte; progenitors; notch; N-acetylserotonin
ID NEURAL PROGENITOR CELLS; METABOTROPIC GLUTAMATE RECEPTORS; AUTISM
SPECTRUM DISORDERS; CENTRAL-NERVOUS-SYSTEM; SPHINGOSINE KINASE 1;
HIPPOCAMPAL NEUROGENESIS; VALPROIC ACID; STEM-CELLS; EPHRIN-B; DENTATE
GYRUS
AB Despite the powerful induction of neurogenesis by sphingosine-1-phosphate (S1P), its study in the role of adult neurogenesis has been relatively neglected. S1P, via its differential effects at different S1P receptor subtypes, is a significant determinant of neuronal precursor/stem cell and astrocyte cellular organization. The variations in neurogenesis, classically modelled via the interactions of phosphatase and tensin homolog and Notch, are intimately associated with the co-ordinated regulation of S1P and fibroblast growth factor-1. Incorporating S1P better explains the plasticity and cellular variations in astrocytes and progenitors as well as their interactions. This has treatment implications for both inducing and inhibiting neurogenesis, in conditions such as depression and macrocephaly associated autistic spectrum disorders respectively. Incorporating S1P and fibroblast growth factor-1 also provides a framework for conceptualizing the impact of peripheral inflammation, central inflammation, redox status and medication effects on neurogenesis, as well as future treatment targets.
C1 [Anderson, George] CRC, Glasgow G11 7QT, Lanark, Scotland.
[Maes, Michael] Deakin Univ, Dept Psychiat, Geelong, Vic 3217, Australia.
[Maes, Michael] Chulalongkorn Univ, Dept Psychiat, Bangkok, Thailand.
RP Anderson, G (reprint author), CRC, Rm 30,57 Laurel St, Glasgow G11 7QT, Lanark, Scotland.
EM anderson.george@rocketmail.com
RI nakham, kwanphat/F-4661-2014
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NR 121
TC 3
Z9 3
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1871-5273
EI 1996-3181
J9 CNS NEUROL DISORD-DR
JI CNS Neurol. Disord.-Drug Targets
PD FEB
PY 2014
VL 13
IS 1
BP 126
EP 136
PG 11
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AB6DW
UT WOS:000331878800018
PM 24040808
ER
PT J
AU Selassie, AW
Wilson, DA
Martz, GU
Smith, GG
Wagner, JL
Wannamaker, BB
AF Selassie, Anbesaw W.
Wilson, Dulaney A.
Martz, Gabriel U.
Smith, Georgette G.
Wagner, Janelle L.
Wannamaker, Braxton B.
TI Epilepsy beyond seizure: A population-based study of comorbidities
SO EPILEPSY RESEARCH
LA English
DT Article
DE Epilepsy; Comorbidity; Epidemiology; Migraine; Mortality; Risk set
ID INCIDENT UNPROVOKED SEIZURES; SCHIZOPHRENIA-LIKE PSYCHOSIS;
CHILDHOOD-ONSET EPILEPSY; MULTIPLE-SCLEROSIS; PSYCHIATRIC COMORBIDITY;
SOMATIC COMORBIDITY; GENERAL-POPULATION; ALZHEIMER-DISEASE; RISK-FACTOR;
EPIDEMIOLOGY
AB Comorbid conditions may affect the quality of life in persons with epilepsy (PWE) more than seizures. Using legally mandated healthcare encounter data, somatic, psychiatric, and neurodevelopmental comorbidities in a large population-based cohort of PWE, were compared to persons with migraine (PWM), a similar neurologic condition, and lower extremity fracture (PWLF), otherwise healthy controls. 64,188 PWE, 121,990 PWM, and 89,808 PWLF were identified from inpatient, outpatient, and emergency department from 2000 to 2011. Epilepsy was ascertained with ICD-9-CM code 345; migraine with 346; fracture of the tibia, fibula, and ankle with 823 and 824. Common comorbidities of epilepsy were identified from the literature. Differences in prevalence among PWE, PWM, and PWLF were assessed by comparison of 95% confidence intervals (CI) constructed under the assumption of independence and normal approximation. The association of the comorbid conditions with epilepsy and migraine, compared to tower extremity fracture, were evaluated with polytomous logistic regression controlling for demographic and mortality covariables. PWE had significantly elevated prevalence of comorbidities compared with PWM and PWLF. Compared with PWLF, the adjusted odds ratios (OR) of having both somatic and psychiatric/neurodevelopmental comorbidities were 5.44 (95% CI = 5.25-5.63) and 2.49 (95% CI = 2.42-2.55) in PWE and PWM, respectively. The association with epilepsy was the strongest for cognitive dysfunction (OR = 28.1; 95% CI = 23.3-33.8); autism spectrum disorders (OR = 22.2; 95% CI = 16.8-29.3); intellectual disability (OR = 12.9; 95% CI = 11.6-14.3); and stroke (OR = 4.2; 95% CI = 4.1-4.4). The absolute risk increase in PWE compared with PWM for any somatic or psychiatric/neurodevelopmental comorbidity was 58.8% and 94.3%, respectively. Identifying comorbidities that are strongly and consistently associated with seizures, particularly disorders with shared underlying pathophysiology, is critical in identifying specific research and practice goals that may ultimately improve the quality of life for PWE. This study contributes to that effort by providing population-based comorbidity data for PWE compared with PWM and PWLF. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Selassie, Anbesaw W.; Wilson, Dulaney A.; Martz, Gabriel U.; Smith, Georgette G.; Wagner, Janelle L.; Wannamaker, Braxton B.] Med Univ S Carolina, Charleston, SC USA.
RP Wannamaker, BB (reprint author), 135 Cannon St,Suite 303,MSC 835, Charleston, SC 29425 USA.
EM wannamab@musc.edu
FU National Center for Chronic Disease Prevention and Health Promotion, the
Centers for Disease Control and Prevention [DP003251]
FX This study was funded by cooperative agreement DP003251 from the
National Center for Chronic Disease Prevention and Health Promotion, the
Centers for Disease Control and Prevention. The findings of the study
and opinions presented in the manuscript are those of the authors and do
not reflect the opinion of the funding agencies. The authors recognize
the support of Mr. Chris Finney from the Office of Research and
Statistics, South Carolina Budget and control Board, for selecting and
organizing the data from multiple administrative data sources.
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NR 57
TC 12
Z9 12
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-1211
EI 1872-6844
J9 EPILEPSY RES
JI Epilepsy Res.
PD FEB
PY 2014
VL 108
IS 2
BP 305
EP 315
DI 10.1016/j.eplepsyres.2013.12.002
PG 11
WC Clinical Neurology
SC Neurosciences & Neurology
GA AB3GF
UT WOS:000331678600017
PM 24405940
ER
PT J
AU Lindsay, S
Proulx, M
Scott, H
Thomson, N
AF Lindsay, Sally
Proulx, Meghann
Scott, Helen
Thomson, Nicole
TI Exploring teachers' strategies for including children with autism
spectrum disorder in mainstream classrooms
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE teachers; inclusion; children; Asperger's syndrome; autism
ID SOCIAL INCLUSION; SECONDARY-SCHOOLS; CEREBRAL-PALSY; STUDENTS;
EDUCATION; ATTITUDES; EXPERIENCES; FRIENDSHIPS; AWARENESS; PUPILS
AB As the rates of diagnosis of autism spectrum disorder (ASD) increase and more students with ASD are enrolled in mainstream schools, educators face many challenges in teaching and managing social and behavioural development while ensuring academic success for all students. This descriptive, qualitative study, embedded within an inclusive pedagogical approach, draws on a purposive sample of 13 elementary school teachers who have experience in teaching children with ASD within two cities in Ontario, Canada. Through in-depth interviews we asked about teachers' strategies for creating an inclusive environment within their classroom. Teachers had several recommendations for successfully including children with ASD in mainstream classrooms including: (1) advocating for resources and essential training; (2) tailored teaching methods; (3) teamwork within the school; (4) building a rapport with parents and students; and (5) building a climate of acceptance within the classroom through disability awareness, education and sensitivity training. In conclusion, teachers need to use several strategies and have appropriate training and resources to optimise the successful inclusion of children with ASD.
C1 [Lindsay, Sally; Proulx, Meghann; Scott, Helen; Thomson, Nicole] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
[Lindsay, Sally] Univ Toronto, Dept Occupat Sci & Occupat Therapy, Toronto, ON, Canada.
[Scott, Helen] Canadian Network Maternal Newborn & Child Hlth, Peterborough, ON, Canada.
[Thomson, Nicole] Univ Toronto, Grad Dept Rehabil Sci, Toronto, ON, Canada.
RP Lindsay, S (reprint author), Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, 150 Kilgour Rd, Toronto, ON M4G 1R8, Canada.
EM slindsay@hollandbloorview.ca
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NR 41
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
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PY 2014
VL 18
IS 2
BP 101
EP 122
DI 10.1080/13603116.2012.758320
PG 22
WC Education & Educational Research
SC Education & Educational Research
GA AA8HH
UT WOS:000331335700001
ER
PT J
AU Reser, JE
AF Reser, Jared Edward
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SO JOURNAL OF COMPARATIVE PSYCHOLOGY
LA English
DT Article
DE autism solitary; monogamous; oxytocin; vasopressin
ID HIGH-FUNCTIONING AUTISM; RECEPTOR GENE OXTR; AFFILIATIVE BEHAVIOR;
ASPERGER-SYNDROME; PRAIRIE VOLES; PHENOTYPIC PLASTICITY;
SOCIAL-BEHAVIOR; VASOPRESSIN RECEPTOR; BIOENERGETIC THRIFT; DEFENSIVE
RESPONSES
AB Species of solitary mammals are known to exhibit specialized, neurological adaptations that prepare them to focus working memory on food procurement and survival rather than on social interaction. Solitary and nonmonogamous mammals, which do not :form strong social bonds, have been documented to exhibit behaviors and biomarkers that are similar to endophenotypes in autism. Both individuals on the autism spectrum and certain solitary mammals have been reported to be low on measures of affiliative need, bodily expressiveness, bonding and attachment, direct and shared gazing, emotional engagement, conspecific recognition, partner preference, separation distress, and social approach behavior. Solitary mammals also exhibit certain biomarkers that are characteristic of autism, including diminished oxytocin and vasopressin signaling, dysregulation of the endogenous opioid system, increased Hypothalamicpituitary-adrenal axis (HPA) activity to social encounters, and reduced HPA activity to separation and isolation. The extent of these similarities suggests that solitary mammals may offer a useful model of autism spectrum disorders and an opportunity for investigating genetic and epigenetic etiological factors. If the brain in autism can be shown to exhibit distinct homologous or homoplastic similarities to the brains of solitary animals, it will reveal that they may be central to the phenotype and should be targeted for further investigation. Research of the neurological, cellular, and molecular basis of these specializations in other mammals may provide insight for behavioral analysis, communication intervention, and psychopharmacology for autism.
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RP Reser, JE (reprint author), Univ So Calif, Brain & Cognit Sci Div, Dept Psychol, 16380 Meadow Ridge Rd, Encino, CA 91436 USA.
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NR 145
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0735-7036
EI 1939-2087
J9 J COMP PSYCHOL
JI J. Comp. Psychol.
PD FEB
PY 2014
VL 128
IS 1
BP 99
EP 113
DI 10.1037/a0034519
PG 15
WC Behavioral Sciences; Psychology; Psychology, Multidisciplinary; Zoology
SC Behavioral Sciences; Psychology; Zoology
GA AB5FZ
UT WOS:000331815600011
PM 24188618
ER
PT J
AU Ronemus, M
Iossifov, I
Levy, D
Wigler, M
AF Ronemus, Michael
Iossifov, Ivan
Levy, Dan
Wigler, Michael
TI The role of de novo mutations in the genetics of autism spectrum
disorders
SO NATURE REVIEWS GENETICS
LA English
DT Article
ID COPY-NUMBER VARIATION; GENOME-WIDE; RESOURCE EXCHANGE; PATERNAL AGE; CGG
REPEAT; TWIN PAIRS; RISK; DISEASE; LOCI; EPIDEMIOLOGY
AB The identification of the genetic components of autism spectrum disorders (ASDs) has advanced rapidly in recent years, particularly with the demonstration of de novo mutations as an important source of causality. We review these developments in light of genetic models for ASDs. We consider the number of genetic loci that underlie ASDs and the relative contributions from different mutational classes, and we discuss possible mechanisms by which these mutations might lead to dysfunction. We update the two-class risk genetic model for autism, especially in regard to children with high intelligence quotients.
C1 [Ronemus, Michael; Iossifov, Ivan; Levy, Dan; Wigler, Michael] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.
RP Wigler, M (reprint author), Cold Spring Harbor Lab, 1 Bungtown Rd, Cold Spring Harbor, NY 11724 USA.
EM wigler@cshl.edu
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NR 72
TC 26
Z9 27
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 1471-0056
EI 1471-0064
J9 NAT REV GENET
JI Nat. Rev. Genet.
PD FEB
PY 2014
VL 15
IS 2
BP 133
EP 141
DI 10.1038/nrg3585
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AB6JL
UT WOS:000331894200012
PM 24430941
ER
PT J
AU Roberts, J
Torres-Martinez, W
Farrow, E
Stevens, A
Delk, P
White, KE
Weaver, DD
AF Roberts, Jessica
Torres-Martinez, Wilfredo
Farrow, Emily
Stevens, Abby
Delk, Paula
White, Kenneth E.
Weaver, David D.
TI A Case of Robin Sequence, Microgastria, Radiohumeral Synostosis, Femoral
Deficiency, and Other Unusual Findings: A Newly Recognized Syndrome?
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE radiohumeral synostosis; microgastria; proximal femoral deficiency;
Robin sequence; autism spectrum disorder; cryptorchidism; congenital hip
dislocations
ID ANTLEY-BIXLER-SYNDROME; UNUSUAL FACIES SYNDROME; CONGENITAL MICROGASTRIA
AB In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown. (c) 2013 Wiley Periodicals, Inc.
C1 [Roberts, Jessica; Torres-Martinez, Wilfredo; Stevens, Abby; Delk, Paula; White, Kenneth E.; Weaver, David D.] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA.
[Farrow, Emily] Childrens Mercy Hosp & Clin, Pediat Ctr Genom Med, Kansas City, KS USA.
RP Roberts, J (reprint author), 3980 John R,4 Webber North,Box 160, Detroit, MI 48201 USA.
EM robertsjessicalynn@gmail.com
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NR 17
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 FEB
PY 2014
VL 164
IS 2
BP 287
EP 290
DI 10.1002/ajmg.a.36273
PG 4
WC Genetics & Heredity
SC Genetics & Heredity
GA AA4LM
UT WOS:000331067100001
PM 24311538
ER
PT J
AU Palmer, E
Speirs, H
Taylor, PJ
Mullan, G
Turner, G
Einfeld, S
Tonge, B
Mowat, D
AF Palmer, Emma
Speirs, Helen
Taylor, Peter J.
Mullan, Glenda
Turner, Gill
Einfeld, Stewart
Tonge, Bruce
Mowat, David
TI Changing Interpretation of Chromosomal Microarray Over Time in a
Community Cohort With Intellectual Disability
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE aberrations; chromosome; intellectual disability; diagnostic test;
oligonucleotide array
ID COPY-NUMBER VARIANTS; MENTAL-RETARDATION; CONGENITAL-ANOMALIES;
DEVELOPMENTAL DELAY; HUMAN GENOME; UNCERTAINTIES; DISORDERS; RESOURCES;
CHILDREN
AB Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged. Workflows, websites, and databases are constantly being updated to aid the interpretation of VOUS. There is a growing literature reporting new microdeletion and duplication syndromes, susceptibility, and modifier copy number variants (CNVs). Diagnostic methods are also evolving with new array platforms and genome builds. In 2010, high-resolution arrays (Affymetrix 2.7M Oligo and SNP, 50kB resolution) were performed on a community cohort of 67 individuals with intellectual disability of unknown aetiology. Three hundred and one CNVs were detected and analyzed using contemporary resources and a simple scoring system. Thirteen (19%) of the arrays were assessed as potentially pathogenic, 4 (6%) as benign and 50 (75%) of uncertain clinical significance. The CNV data were re-analyzed in 2012 using the contemporary interpretative resources. There was a statistically significant difference in the assessment of individual CNVs (P<0.0001). An additional eight patients were reassessed as having a potentially pathogenic array (n=21, 31%) and several additional susceptibility or modifier CNVs were identified. This study highlights the complexity involved in the interpretation of CMA and uniquely demonstrates how, even on the same array platform, it can be subject to change over time. (c) 2013 Wiley Periodicals, Inc.
C1 [Palmer, Emma; Mowat, David] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia.
[Palmer, Emma; Mowat, David] Univ NSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia.
[Speirs, Helen] Univ NSW, Ramaciotti Ctr Gene Funct Anal, Sydney, NSW, Australia.
[Taylor, Peter J.] South Eastern Area Lab Serv, Sydney, NSW, Australia.
[Turner, Gill] Hunter Area Hlth Serv, Newcastle, NSW, Australia.
[Turner, Gill] Univ Sydney, Sydney, NSW 2006, Australia.
[Einfeld, Stewart] Univ Sydney, Brain & Mind Res Inst, Ctr Disabil Res & Policy, Sydney, NSW 2006, Australia.
[Tonge, Bruce] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic, Australia.
RP Mowat, D (reprint author), Sydney Childrens Hosp, Dept Med Genet, High St, Randwick, NSW, Australia.
EM david.mowat@unsw.edu.au
FU Welcome Trust
FX Grant sponsor: Welcome Trust.
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Schaefer GB, 2013, GENET MED, V15, P669, DOI 10.1038/gim.2013.32
Talkowski ME, 2011, AM J HUM GENET, V89, P551, DOI 10.1016/j.ajhg.2011.09.011
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NR 40
TC 4
Z9 4
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD FEB
PY 2014
VL 164
IS 2
BP 377
EP 385
DI 10.1002/ajmg.a.36279
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA AA4LM
UT WOS:000331067100014
PM 24311194
ER
PT J
AU Takenouchi, T
Hashida, N
Torii, C
Kosaki, R
Takahashi, T
Kosaki, K
AF Takenouchi, Toshiki
Hashida, Noriko
Torii, Chiharu
Kosaki, Rika
Takahashi, Takao
Kosaki, Kenjiro
TI 1p34.3 Deletion Involving GRIK3: Further Clinical Implication of GRIK
Family Glutamate Receptors in the Pathogenesis of Developmental Delay
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE GRIK3; glutamate receptor; developmental delay
ID MOSSY FIBER SYNAPSES; GLUTAMATE-RECEPTOR-6 GENE; KAINATE RECEPTORS;
BIPOLAR DISORDER; DE-NOVO; ASSOCIATION; SCHIZOPHRENIA; AUTISM; SUBUNIT;
16P11.2
AB A growing body of evidence suggests an association between microdeletion/microduplication and schizophrenia/intellectual disability. Abnormal neurogenesis and neurotransmission have been implicated in the pathogenesis of these neuropsychiatric and neurodevelopmental disorders. The kainate/AMPA-type ionotropic glutamate receptor (GRIK=glutamate receptor, ionotropic, kainate) plays a critical role in synaptic potentiation, which is an essential process for learning and memory. Among the five known GRIK family members, haploinsufficiency of GRIK1, GRIK2, and GRIK4 are known to cause developmental delay, whereas the roles of GRIK3 and GRIK5 remain unknown. Herein, we report on a girl who presented with a severe developmental delay predominantly affecting her language and fine motor skills. She had a 2.6-Mb microdeletion in 1p34.3 involving GRIK3, which encodes a principal subunit of the kainate-type ionotropic glutamate receptor. Given its strong expression pattern in the central nervous system and the biological function of GRIK3 in presynaptic neurotransmission, the haploinsufficiency of GRIK3 is likely to be responsible for the severe developmental delay in the proposita. A review of genetic alterations and the phenotypic effects of all the GRIK family members support this hypothesis. The current observation of a microdeletion involving GRIK3, a kainate-type ionotropic glutamate receptor subunit, and the neurodevelopmental manifestation in the absence of major dysmorphism provides further clinical implication of the possible role of GRIK family glutamate receptors in the pathogenesis of developmental delay. (c) 2013 Wiley Periodicals, Inc.
C1 [Takenouchi, Toshiki; Hashida, Noriko; Takahashi, Takao] Keio Univ, Sch Med, Dept Pediat, Tokyo 1608582, Japan.
[Torii, Chiharu; Kosaki, Kenjiro] Keio Univ, Sch Med, Ctr Med Genet, Tokyo 1608582, Japan.
[Kosaki, Rika] Natl Ctr Child Hlth & Dev, Div Med Genet, Tokyo, Japan.
RP Kosaki, K (reprint author), Keio Univ, Sch Med, Ctr Med Genet, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan.
EM kkosaki@z3.keio.jp
FU Research on Applying Health Technology [H23-013]; Ministry of Health,
Labour and Welfare, Japan
FX Grant sponsor: Research on Applying Health Technology; Grant number:
H23-013; Grant sponsor: Ministry of Health, Labour and Welfare, Japan.
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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 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD FEB
PY 2014
VL 164
IS 2
BP 456
EP 460
DI 10.1002/ajmg.a.36240
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA AA4LM
UT WOS:000331067100025
PM 24449200
ER
PT J
AU Magoulas, PL
Liu, PF
Gelowani, V
Soler-Alfonso, C
Kivuva, EC
Lupski, JR
Potocki, L
AF Magoulas, Pilar L.
Liu, Pengfei
Gelowani, Violet
Soler-Alfonso, Claudia
Kivuva, Emma C.
Lupski, James R.
Potocki, Lorraine
TI Inherited dup(17)(p11.2p11.2): Expanding the Phenotype of the
Potocki-Lupski Syndrome
SO AMERICAN JOURNAL OF MEDICAL GENETICS PART A
LA English
DT Article
DE Potocki-Lupski syndrome; PTLS; RAI1; microduplication syndrome; dosage
sensitivity
ID HYPOPLASTIC LEFT-HEART; DUPLICATION 17P11.2; HOMOLOGOUS RECOMBINATION;
DELETION
AB Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6Mb microdeletion in the Smith-Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent-child pair and exemplifies the under-diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders. (c) 2013 Wiley Periodicals, Inc.
C1 [Magoulas, Pilar L.; Liu, Pengfei; Gelowani, Violet; Lupski, James R.; Potocki, Lorraine] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
[Soler-Alfonso, Claudia] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Med Genet, Houston, TX 77030 USA.
[Kivuva, Emma C.] Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England.
[Lupski, James R.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.
[Magoulas, Pilar L.; Lupski, James R.; Potocki, Lorraine] Texas Childrens Hosp, Houston, TX 77030 USA.
RP Potocki, L (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
EM lpotocki@bcm.edu
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NR 18
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1552-4825
EI 1552-4833
J9 AM J MED GENET A
JI Am. J. Med. Genet. A
PD FEB
PY 2014
VL 164
IS 2
BP 500
EP 504
DI 10.1002/ajmg.a.36287
PG 5
WC Genetics & Heredity
SC Genetics & Heredity
GA AA4LM
UT WOS:000331067100034
PM 24311450
ER
PT J
AU Rees, E
Walters, JTR
Georgieva, L
Isles, AR
Chambert, KD
Richards, AL
Mahoney-Davies, G
Legge, SE
Moran, JL
McCarroll, SA
O'Donovan, MC
Owen, MJ
Kirov, G
AF Rees, Elliott
Walters, James T. R.
Georgieva, Lyudmila
Isles, Anthony R.
Chambert, Kimberly D.
Richards, Alexander L.
Mahoney-Davies, Gerwyn
Legge, Sophie E.
Moran, Jennifer L.
McCarroll, Steven A.
O'Donovan, Michael C.
Owen, Michael J.
Kirov, George
TI Analysis of copy number variations at 15 schizophrenia-associated loci
SO BRITISH JOURNAL OF PSYCHIATRY
LA English
DT Article
ID RARE CHROMOSOMAL DELETIONS; CARDIO-FACIAL SYNDROME; RECURRENT
MICRODELETIONS; DUPLICATIONS; AUTISM; POPULATION; VARIANTS; 16P11.2;
GENE; CNVS
AB Background
A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain.
Aims
To determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large. new data-set of patients with schizophrenia (n=6882) and controls (n = 6316), and (b) combining our results with those from previous studies.
Method
We used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets.
Results
We found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (P<0.05) in this new data-set: deletions at 1q21.1, NRXN1, 15q11.2 and 22q11.2 and duplications at 16011.2 and the Angelman/Prader-Willi Syndrome (AS/PWS) region. All eight AS/PWS duplications in patients were of maternal origin. When combined with published data, 11 of the 15 loci showed highly significant evidence for association with schizophrenia (P<4.1 x 10(-4)).
Conclusions
We strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations.
C1 [Rees, Elliott; Walters, James T. R.; Georgieva, Lyudmila; Isles, Anthony R.; Kirov, George] Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CB24 4HQ, S Glam, Wales.
[Chambert, Kimberly D.; Moran, Jennifer L.; McCarroll, Steven A.] Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA.
[Richards, Alexander L.; Mahoney-Davies, Gerwyn; Legge, Sophie E.; O'Donovan, Michael C.; Owen, Michael J.; Kirov, George] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Ctr Neuropsychiat Genet & Genom, Cardiff CB24 4HQ, S Glam, Wales.
RP Kirov, G (reprint author), Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg, Cardiff CB24 4HQ, S Glam, Wales.
EM kirov@cardiff.ac.uk
FU Medical Research Council (MRC) Centre [G0800509, G0801418]; European
Community's Seventh Framework Programme [HEALTH-F2-2010-241909]; MRC;
Wellcome Trust, UK; Biotechnology and Biological Sciences Research
Council (UK); Wellcome Trust; Leverhulme Trust; MRC/Welsh Assembly
Government; British Medical Association
FX The work at Cardiff University was funded by Medical Research Council
(MRC) Centre (G0800509) and Program Grants (G0801418) and the European
Community's Seventh Framework Programme (HEALTH-F2-2010-241909 (Project
EU-GEI), and an MRC PhD Studentship to E.R. M.C.O'D., M.J.O. and G K.
have received funding from the MRC and the Wellcome Trust, UK. A.R.I.
has received funding from the Biotechnology and Biological Sciences
Research Council (UK), the Wellcome Trust and the Leverhulme Trust. This
work was supported by a clinical research fellowship to J.T.R.W from the
MRC/Welsh Assembly Government and the Margaret Temple Award from the
British Medical Association The schizophrenia samples were genotyped at
the Broad Institute, USA, and funded by a philanthropic gift to the
Stanley Center for Psychiatric Research.
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NR 51
TC 20
Z9 20
PU ROYAL COLLEGE OF PSYCHIATRISTS
PI LONDON
PA BRITISH JOURNAL OF PSYCHIATRY 17 BELGRAVE SQUARE, LONDON SW1X 8PG,
ENGLAND
SN 0007-1250
EI 1472-1465
J9 BRIT J PSYCHIAT
JI Br. J. Psychiatry
PD FEB
PY 2014
VL 204
IS 2
BP 108
EP 114
DI 10.1192/bjp.bp.113.131052
PG 7
WC Psychiatry
SC Psychiatry
GA AB0NH
UT WOS:000331488900005
PM 24311552
ER
PT J
AU Coury, DL
Swedo, SE
Thurm, AE
Miller, DT
Veenstra-VanderWeele, JM
Carbone, PS
Taylor, JL
AF Coury, Daniel L.
Swedo, Susan E.
Thurm, Audrey E.
Miller, David T.
Veenstra-VanderWeele, Jeremy M.
Carbone, Paul S.
Taylor, Julie Lounds
TI Treating the Whole Person With Autism: The Proceedings of the Autism
Speaks National Autism Conference
SO CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE
LA English
DT Article
ID PERVASIVE DEVELOPMENTAL DISORDERS; HEALTH-CARE NEEDS; RANDOMIZED
CLINICAL-TRIAL; DSM-5 FIELD TRIALS; DE-NOVO MUTATIONS; SPECTRUM
DISORDERS; YOUNG-ADULTS; CHILDRENS HEALTH; UNITED-STATES; MEDICAL HOME
AB The identification of autism spectrum disorders has increased dramatically over the past decade, with the latest estimates indicating prevalence as high as 1 in 54 boys. There is greater awareness of medical conditions that co-occur with autism and expansion of treatment options. Closer scrutiny has led to refinement of the diagnostic criteria, and there have been advances in genetics examining potential causal factors. Transition to adulthood is an area of growing concern, and professionals and families require guidance on this issue. This article summarizes the proceedings of the Autism Speaks conference on Treating the Whole Person with Autism: Care across the Lifespan. The conference was organized with the intent of providing a forum for both families and professionals to learn about the most current research in the field. Dr. Sue Swedo provides important background information regarding the changes in the diagnostic criteria for autism spectrum disorders. She particularly deals with the concerns of individuals and families that their autism diagnosis may change. Recommendations for genetic testing and its interpretation are provided by Dr. David Miller. His discussion helps make sense of the utility of genetic testing for ASD, along with demonstration of the complexity of determining which genetic factors are doing what and through which pathways. Dr. Jeremy Veenstra-Vander-Weele provides useful background information on how medicines are initially identified and for what purpose and goes on to describe the present and future treatments in pharmacology. Medical issues are addressed by Dr. Paul Carbone, especially the coordination of comprehensive services through the medical home model of care. Dr. Julie Lounds Taylor concludes with guidance on preparation for adulthood, a topic of great importance to families as their child matures and for the professionals who will help guide this transition.
C1 [Coury, Daniel L.] Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA.
[Coury, Daniel L.] Ohio State Univ, Columbus, OH 43210 USA.
[Swedo, Susan E.; Thurm, Audrey E.] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA.
[Miller, David T.] Boston Childrens Hosp, Div Genet, Boston, MA USA.
[Veenstra-VanderWeele, Jeremy M.] Vanderbilt Kennedy Ctr Res Human Dev, Treatment & Res Inst Autism Spectrum Disorder, Nashville, TN USA.
[Carbone, Paul S.] Univ Utah, Dept Pediat, Salt Lake City, UT USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Taylor, Julie Lounds] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37235 USA.
RP Coury, DL (reprint author), Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA.
RI Coury, Daniel/E-2925-2011
FU Autism Speaks; SynapDx; Novartis; Roche Pharmaceuticals; Seaside
Therapeutics; Forest; Sunovion; U.S. Department of Health and Human
Services [UA3 MC 11054]; Health Resources and Services Administration;
Maternal and Child Health Research Program
FX Dr. Coury has received research funding from Autism Speaks and SynapDx.
Dr. Miller has served on the Scientific Advisory Board, Integragen,
Inc., as a Consultant to SynapDx, Inc., Roche NimbleGen, Inc., and
Correlagen Diagnostics, Inc.; and as a Consultant and Medical Director
to Claritas Genomics, Inc. Dr. Veenstra-Vander Weele has received
research funding from Novartis, Roche Pharmaceuticals, Seaside
Therapeutics, Forest, Sunovion, and SynapDx, and has served on advisory
boards for Novartis and Roche Pharmaceuticals. Dr. Carbone has received
grant funding from Autism Speaks. Drs. Swedo, Thurm, and Taylor have no
financial relationships to disclose with respect to this
article.Received funding from Autism Speaks and from cooperative
agreement UA3 MC 11054 from the U.S. Department of Health and Human
Services, Health Resources and Services Administration, and Maternal and
Child Health Research Program.
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NR 117
TC 2
Z9 2
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 1538-5442
EI 1538-3199
J9 CURR PROB PEDIATR AD
JI Curr. Probl. Pediatr. Adolesc. Health Care
PD FEB
PY 2014
VL 44
IS 2
BP 26
EP 47
DI 10.1016/j.cppeds.2013.12.002
PG 22
WC Pediatrics
SC Pediatrics
GA AB2BM
UT WOS:000331598000002
PM 24491508
ER
PT J
AU Adamo, N
Huo, L
Adelsberg, S
Petkova, E
Castellanos, FX
Di Martino, A
AF Adamo, Nicoletta
Huo, Lan
Adelsberg, Samantha
Petkova, Eva
Castellanos, F. Xavier
Di Martino, Adriana
TI Response time intra-subject variability: commonalities between children
with autism spectrum disorders and children with ADHD
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Autism; ADHD; Reaction-time intra-subject variability; Functional data
analysis; Endophenotype
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DEFICIT-HYPERACTIVITY-DISORDER; HIGH-FUNCTIONING AUTISM; SUSTAINED
ATTENTION; INTRAINDIVIDUAL VARIABILITY; PSYCHIATRIC-DISORDERS; GENETIC
INFLUENCES; PARENT RATINGS; PERFORMANCE; INHIBITION
AB Despite the common co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) in individuals with autism spectrum disorders (ASD), the underlying mechanisms are under-explored. A potential candidate for investigation is response time intra-subject variability (RT-ISV), a hypothesized marker of attentional lapses. Direct comparisons of RT-ISV in ASD versus ADHD are limited and contradictory. We aimed to examine whether distinct fluctuations in RT-ISV characterize children with ASD and with ADHD relative to typically developing children (TDC). We applied both a priori-based and data-driven strategies to RT performance of 46 children with ASD, 46 with ADHD, and 36 TDC (aged 7-11.9 years). Specifically, we contrasted groups relative to the amplitude of four preselected frequency bands as well as to 400 frequency bins from 0.006 to 0.345 Hz. In secondary analyses, we divided the ASD group into children with and without substantial ADHD symptoms (ASD(+) and ASD(-), respectively). Regardless of the strategy employed, RT-ISV fluctuations at frequencies between 0.20 and 0.345 Hz distinguished children with ADHD, but not children with ASD, from TDC. Children with ASD(+) and those with ADHD shared elevated amplitudes of RT-ISV fluctuations in frequencies between 0.18 and 0.345 Hz relative to TDC. In contrast, the ASD(-) subgroup did not differ from TDC in RT-ISV frequency fluctuations. RT-ISV fluctuations in frequencies 0.18-0.345 Hz (i.e., periods between 3 and 5 s) are associated with ADHD symptoms regardless of categorical diagnosis and may represent a biomarker. These results suggest that children with ADHD and those with ASD(+) share common underlying pathophysiological mechanisms of RT-ISV.
C1 [Adamo, Nicoletta; Adelsberg, Samantha; Castellanos, F. Xavier; Di Martino, Adriana] NYU, Langone Med Ctr, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, New York, NY 10016 USA.
[Huo, Lan; Petkova, Eva] NYU, Ctr Child Study, Div Biostat, New York, NY 10016 USA.
[Petkova, Eva; Castellanos, F. Xavier] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA.
RP Di Martino, A (reprint author), NYU, Langone Med Ctr, Ctr Child Study, Phyllis Green & Randolph Cowen Inst Pediat Neuros, One Pk Ave,8th floor, New York, NY 10016 USA.
EM Adriana.Dimartino@nyumc.org
RI Di Martino, Adriana/L-2497-2014
FU National Institute of Mental Health from the National Institute of Child
Health and Human Development [K23MH087770, R01MH081218, R01HD065282];
Autism Speaks; Stavros Niarchos Foundation; Brain and Behavior Research
Foundation; Leon Levy Foundation
FX The authors thank all children and parents for their participation to
this research, as well as the research staff of the Phyllis Green and
Randolph Cowen Institute for Pediatric Neuroscience for help in
participant recruitment, assessment, data collection and data entry. The
authors also wish to thank Drs. Katherine Johnson for sharing the fixed
version of SART, Clare Kelly for help in some aspects of RT data
preparation, and Philip Reiss for the development of the Functional Data
Analysis applied here and for helpful discussion during manuscript
preparation. This work was supported in part by grants from the National
Institute of Mental Health (K23MH087770 to A. D. M., R01MH081218 to F.
X. C.) from the National Institute of Child Health and Human Development
(R01HD065282), Autism Speaks, the Stavros Niarchos Foundation, awarded
to F. X. C., the Brain and Behavior Research Foundation (previously
known as NARSAD) and the Leon Levy Foundation awarded to A.D.M.
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Zuo XN, 2010, NEUROIMAGE, V49, P1432, DOI 10.1016/j.neuroimage.2009.09.037
NR 76
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD FEB
PY 2014
VL 23
IS 2
BP 69
EP 79
DI 10.1007/s00787-013-0428-4
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA5AO
UT WOS:000331108100003
PM 23716135
ER
PT J
AU Cholemkery, H
Kitzerow, J
Rohrmann, S
Freitag, CM
AF Cholemkery, Hannah
Kitzerow, Janina
Rohrmann, Sonja
Freitag, Christine M.
TI Validity of the social responsiveness scale to differentiate between
autism spectrum disorders and disruptive behaviour disorders
SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
LA English
DT Article
DE Psychometric assessment; Differential diagnosis; Child psychiatric
disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; CROSS-CULTURAL VALIDATION; CHILDREN;
TRAITS; TWINS; DIAGNOSIS; SRS
AB Autism spectrum disorder (ASD) as well as oppositional defiant (ODD) and conduct disorder (CD) is characterised by difficulties in social interaction with peers. The Social Responsiveness Scale (SRS) measures reciprocal social behaviour in children and adolescents and was originally developed as a quantitative measure of autistic traits. In the present study, we compare parent-rated SRS scores in children with ODD, CD, and ASD and examine the diagnostic validity of the SRS alone and in combination with additional questionnaires to differentiate between groups. We hypothesize that the SRS better differentiates ASD and typically developing controls (TD) than ASD and the disruptive behaviour disorders ODD and CD. The sample consists of three clinical groups: ASD without comorbid intellectual delay (N = 55), ODD/CD (N = 55), and TD (N = 55), between 6 and 18 years. The groups were matched by age, sex, and IQ. SRS scores were compared for the three groups. Sensitivity and specificity of the SRS total and sub-scores were examined by receiver operating characteristics (ROC) analyses. Logistic regression analyses were calculated for estimating the rate of correctly specified individuals. The SRS differentiated excellently between ASD and TD (ROC-AUC = 1.00), but sensitivity and specificity were considerably lower when ASD was compared with ODD/CD (ROC-AUC = 0.82). A combination of three parent-rated questionnaires resulted in an improved validity to differentiate ASD and ODD/CD. For clinical screening purposes in children suspicious of ASD and/or ODD/CD, the SRS should be used in combination with additional disorder-specific questionnaires to improve the rate of correct classification of both disorders.
C1 [Cholemkery, Hannah; Kitzerow, Janina; Freitag, Christine M.] JW Goethe Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
[Rohrmann, Sonja] Goethe Univ Frankfurt, Dept Psychol, Frankfurt, Germany.
RP Cholemkery, H (reprint author), JW Goethe Univ Hosp, Dept Child & Adolescent Psychiat Psychosomat & Ps, Deutschordenstr 50, D-60528 Frankfurt, Germany.
EM Hannah.Cholemkery@kgu.de
FU Medical Faculty of the JW Goethe University Frankfurt am Main (Heinrich
and Fritz Riese foundation)
FX The authors gratefully acknowledge all families and their children who
took part in this study. The authors also thank Laura Mojica and Eva
Westerwald for their support in data collection. The study was supported
by a grant of the Medical Faculty of the JW Goethe University Frankfurt
am Main (Heinrich and Fritz Riese foundation)
CR Achenbach TM, 1998, ELTERNFRAGEBOGEN VER
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American Psychiatric Association, 2000, DIAGN STAT MAN MENT
[Anonymous], 1992, INT STAT CLASS DIS R
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Rutter M., 2003, AUTISM DIAGNOSTIC IN
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Schneider S, 2009, DIAGNOSTISCHES INTER
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Weill R. H., 2006, CFT 20 R GRUNDINTELL
NR 42
TC 4
Z9 4
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 1018-8827
EI 1435-165X
J9 EUR CHILD ADOLES PSY
JI Eur. Child Adolesc. Psych.
PD FEB
PY 2014
VL 23
IS 2
BP 81
EP 93
DI 10.1007/s00787-013-0427-5
PG 13
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA5AO
UT WOS:000331108100004
PM 23719758
ER
PT J
AU Lim, CS
Hoang, ET
Viar, KE
Stornetta, RL
Scott, MM
Zhu, JJ
AF Lim, Chae-Seok
Hoang, Elizabeth T.
Viar, Kenneth E.
Stornetta, Ruth L.
Scott, Michael M.
Zhu, J. Julius
TI Pharmacological rescue of Ras signaling, GluA1-dependent synaptic
plasticity, and learning deficits in a fragile X model
SO GENES & DEVELOPMENT
LA English
DT Article
DE autism; AMPA receptor trafficking; Ras-PI3K signaling; mental
retardation; cocktail drug treatment
ID AMPA-RECEPTOR TRAFFICKING; LONG-TERM POTENTIATION; BETA-GAMMA-SUBUNITS;
FMR1 KNOCKOUT MICE; MESSENGER-RNAS; HIPPOCAMPAL-NEURONS;
MENTAL-RETARDATION; PREFRONTAL CORTEX; LTP INDUCTION; PROTEIN FMRP
AB Fragile X syndrome, caused by the loss of Fmr1 gene function, is the most common form of inherited mental retardation, with no effective treatment. Using a tractable animal model, we investigated mechanisms of action of a few FDA-approved psychoactive drugs that modestly benefit the cognitive performance in fragile X patients. Here we report that compounds activating serotonin (5HT) subtype 2B receptors (5HT(2B)-Rs) or dopamine (DA) subtype 1-like receptors (D-1-Rs) and/or those inhibiting 5HT(2A)-Rs or D-2-Rs moderately enhance Ras-PI3K/PKB signaling input, GluA1-dependent synaptic plasticity, and learning in Fmr1 knockout mice. Unexpectedly, combinations of these 5HT and DA compounds at low doses synergistically stimulate Ras-PI3K/PKB signal transduction and GluA1-dependent synaptic plasticity and remarkably restore normal learning in Fmr1 knockout mice without causing anxiety-related side effects. These findings suggest that properly dosed and combined FDA-approved psychoactive drugs may effectively treat the cognitive impairment associated with fragile X syndrome.
C1 [Lim, Chae-Seok; Hoang, Elizabeth T.; Viar, Kenneth E.; Stornetta, Ruth L.; Scott, Michael M.; Zhu, J. Julius] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Pharmacol, Charlottesville, VA 22908 USA.
[Hoang, Elizabeth T.] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Psychol, Charlottesville, VA 22908 USA.
[Zhu, J. Julius] Univ Virginia, Coll Arts & Sci, Sch Med, Dept Neurosci, Charlottesville, VA 22908 USA.
RP Zhu, JJ (reprint author), Univ Virginia, Coll Arts & Sci, Sch Med, Dept Pharmacol, Charlottesville, VA 22908 USA.
EM jjzhu@virginia.edu
FU National Institutes of Health; FRAXA Research Foundation
FX We thank Dr. Mark Bear, Dr. Jay Gibson, Dr. Randy Hagerman, Dr.
Bong-Kiun Kaang, Dr. Gary Lynch, Dr. Michael Tranfaglia, and Dr. Brian
Wiltgen for technical advice and invaluable discussions, and members of
the Zhu laboratory for comments and technical assistance. This study is
supported in part by the National Institutes of Health and FRAXA
Research Foundation.
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NR 95
TC 7
Z9 7
PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
PI COLD SPRING HARBOR
PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA
SN 0890-9369
EI 1549-5477
J9 GENE DEV
JI Genes Dev.
PD FEB 1
PY 2014
VL 28
IS 3
BP 273
EP 289
DI 10.1101/gad.232470.113
PG 17
WC Cell Biology; Developmental Biology; Genetics & Heredity
SC Cell Biology; Developmental Biology; Genetics & Heredity
GA AA6RF
UT WOS:000331224900007
PM 24493647
ER
PT J
AU Shashi, V
McConkie-Rosell, A
Rosell, B
Schoch, K
Vellore, K
McDonald, M
Jiang, YH
Xie, PX
Need, A
Goldstein, DB
AF Shashi, Vandana
McConkie-Rosell, Allyn
Rosell, Bruce
Schoch, Kelly
Vellore, Kasturi
McDonald, Marie
Jiang, Yong-Hui
Xie, Pingxing
Need, Anna
Goldstein, David B.
TI The utility of the traditional medical genetics diagnostic evaluation in
the context of next-generation sequencing for undiagnosed genetic
disorders
SO GENETICS IN MEDICINE
LA English
DT Article
DE genetic diagnosis; genetic testing; medical genetics evaluation;
next-generation sequencing; undiagnosed genetic disorder
ID AUTISM SPECTRUM DISORDERS; MENTAL-RETARDATION; INTELLECTUAL DISABILITY;
CONGENITAL-ANOMALIES; YIELD; INDIVIDUALS; HEALTH; CHILD; ETIOLOGY;
PROJECT
AB Purpose: The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and targeted genetic testing, within a general genetics clinic. These data are critically needed to develop clinically and economically grounded diagnostic algorithms that consider presenting phenotype, traditional genetics testing, and the emerging role of next-generation sequencing (whole-exome/genome sequencing).
Methods: We retrospectively analyzed a cohort of 500 unselected consecutive patients who received traditional genetic diagnostic evaluations at a tertiary medical center. We calculated the diagnosis rate, number of visits to diagnosis, genetic tests, and the cost of testing.
Results: Thirty-nine patients were determined to not have a genetic disorder; 212 of the remaining 461 (46%) received a genetic diagnosis, and 72% of these were diagnosed on the first visit. The cost per subsequent successful genetic diagnosis was estimated at $ 25,000.
Conclusion: Almost half of the patients were diagnosed using the traditional approach, most at the initial visit. For those remaining undiagnosed, next-generation sequencing may be clinically and economically beneficial. Estimating a 50% success rate for next-generation sequencing in undiagnosed genetic disorders, its application after the first clinical visit could result in a higher rate of genetic diagnosis at a considerable cost savings per successful diagnosis.
C1 [Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA.
[Xie, Pingxing; Need, Anna; Goldstein, David B.] Duke Univ, Med Ctr, Ctr Human Genome Variat, Durham, NC 27710 USA.
RP Shashi, V (reprint author), Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA.
EM vandana.shashi@duke.edu
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NR 27
TC 13
Z9 13
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 FEB
PY 2014
VL 16
IS 2
BP 176
EP 182
DI 10.1038/gim.2013.99
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA AA6MP
UT WOS:000331212700008
PM 23928913
ER
PT J
AU Taquet, M
Scherrer, B
Commowick, O
Peters, JM
Sahin, M
Macq, B
Warfield, SK
AF Taquet, Maxime
Scherrer, Benoit
Commowick, Olivier
Peters, Jurriaan M.
Sahin, Mustafa
Macq, Benoit
Warfield, Simon K.
TI A Mathematical Framework for the Registration and Analysis of
Multi-Fascicle Models for Population Studies of the Brain Microstructure
SO IEEE TRANSACTIONS ON MEDICAL IMAGING
LA English
DT Article
DE Diffusion magnetic resonance imaging (MRI); interpolation;
microstructure; multi-fascicle; multi-tensor; population studies;
registration
ID WHITE-MATTER; TUBEROUS SCLEROSIS; DIFFUSION; AUTISM; REVEALS; COMPLEX;
IMAGES; MRI
AB Diffusion tensor imaging ( DTI) is unable to represent the diffusion signal arising from multiple crossing fascicles and freely diffusing water molecules. Generative models of the diffusion signal, such as multi-fascicle models, overcome this limitation by providing a parametric representation for the signal contribution of each population of water molecules. These models are of great interest in population studies to characterize and compare the brain microstructural properties. Central to population studies is the construction of an atlas and the registration of all subjects to it. However, the appropriate definition of registration and atlasing methods for multi-fascicle models have proven challenging. This paper proposes a mathematical framework to register and analyze multi-fascicle models. Specifically, we define novel operators to achieve interpolation, smoothing and averaging of multifascicle models. We also define a novel similarity metric to spatially align multi-fascicle models. Our framework enables simultaneous comparisons of different microstructural properties that are confounded in conventional DTI. The framework is validated on multi-fascicle models from 24 healthy subjects and 38 patients with tuberous sclerosis complex, 10 of whom have autism. We demonstrate the use of the multi-fascicle models registration and analysis framework in a population study of autism spectrum disorder.
C1 [Taquet, Maxime; Scherrer, Benoit; Peters, Jurriaan M.; Warfield, Simon K.] Harvard Univ, Sch Med, Boston Childrens Hosp, Computat Radiol Lab, Boston, MA 02115 USA.
[Taquet, Maxime; Macq, Benoit] Catholic Univ Louvain, ICTEAM Inst, B-1348 Louvain, Belgium.
[Commowick, Olivier] INRIA, INSERM, VisAGeS Unit Project U746, F-35042 Rennes, France.
[Sahin, Mustafa] Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA.
RP Taquet, M (reprint author), Harvard Univ, Sch Med, Boston Childrens Hosp, Computat Radiol Lab, Boston, MA 02115 USA.
FU National Institutes of Health (NIH) [R01 NS079788, R01 EB008015, R03
EB008680, R01 LM010033, R01 EB013248, 1U01NS082320-01]; Boston
Children's Hospital; ImagX Walloon Region Project; Fonds de la Recherche
Scientifique-FNRS (FRS-FNRS); Belgian American Educational Foundation
(BAEF); WBI.WORLD
FX This work was supported in part by the National Institutes of Health
(NIH) under Grant R01 NS079788, Grant R01 EB008015, Grant R03 EB008680,
Grant R01 LM010033, Grant R01 EB013248, and Grant 1U01NS082320-01, in
part by a research grant from the Boston Children's Hospital
Translational Research Program, and in part by the ImagX Walloon Region
Project. The work of M. Taquet was supported in part by Fonds de la
Recherche Scientifique-FNRS (FRS-FNRS), in part by the Belgian American
Educational Foundation (BAEF), and in part by WBI.WORLD.
CR Alexander DC, 2001, IEEE T MED IMAGING, V20, P1131, DOI 10.1109/42.963816
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NR 47
TC 3
Z9 3
PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC
PI PISCATAWAY
PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA
SN 0278-0062
EI 1558-254X
J9 IEEE T MED IMAGING
JI IEEE Trans. Med. Imaging
PD FEB
PY 2014
VL 33
IS 2
BP 504
EP 517
DI 10.1109/TMI.2013.2289381
PG 14
WC Computer Science, Interdisciplinary Applications; Engineering,
Biomedical; Engineering, Electrical & Electronic; Imaging Science &
Photographic Technology; Radiology, Nuclear Medicine & Medical Imaging
SC Computer Science; Engineering; Imaging Science & Photographic
Technology; Radiology, Nuclear Medicine & Medical Imaging
GA AA7SU
UT WOS:000331298000023
PM 24235301
ER
PT J
AU Watanabe, T
Abe, O
Kuwabara, H
Yahata, N
Takano, Y
Iwashiro, N
Natsubori, T
Aoki, Y
Takao, H
Kawakubo, Y
Kamio, Y
Kato, N
Miyashita, Y
Kasai, K
Yamasue, H
AF Watanabe, Takamitsu
Abe, Osamu
Kuwabara, Hitoshi
Yahata, Noriaki
Takano, Yosuke
Iwashiro, Norichika
Natsubori, Tatsunobu
Aoki, Yuta
Takao, Hidemasa
Kawakubo, Yuki
Kamio, Yoko
Kato, Nobumasa
Miyashita, Yasushi
Kasai, Kiyoto
Yamasue, Hidenori
TI Mitigation of Sociocommunicational Deficits of Autism Through
Oxytocin-Induced Recovery of Medial Prefrontal Activity A Randomized
Trial
SO JAMA PSYCHIATRY
LA English
DT Article
ID SPECTRUM DISORDERS; INTRANASAL OXYTOCIN; SOCIAL COGNITION; PROSOCIAL
BEHAVIOR; NEURAL CIRCUITRY; CENTRAL AMYGDALA; RECEPTOR GENE; HUMAN
BRAIN; HUMANS; VASOPRESSIN
AB IMPORTANCE Sociocommunicational deficits make it difficult for individuals with autism spectrum disorders (ASD) to understand communication content with conflicting verbal and nonverbal information. Despite growing prospects for oxytocin as a therapeutic agent for ASD, no direct neurobiological evidence exists for oxytocin's beneficial effects on this core symptom of ASD. This is slowing clinical application of the neuropeptide.
OBJECTIVE To directly examine whether oxytocin has beneficial effects on the sociocommunicational deficits of ASD using both behavioral and neural measures.
DESIGN, SETTING, AND PARTICIPANTS At the University of Tokyo Hospital, we conducted a randomized, double-blind, placebo-controlled, within-subject-crossover, single-site experimental trial in which intranasal oxytocin and placebo were administered. A total of 40 highly functioning men with ASD participated and were randomized in the trial.
INTERVENTIONS Single-dose intranasal administration of oxytocin (24 IU) and placebo.
MAIN OUTCOMES AND MEASURES Using functional magnetic resonance imaging, we examined effects of oxytocin on behavioral neural responses of the participants to a social psychological task. In our previous case-control study using the same psychological task, when making decisions about social information with conflicting verbal and nonverbal contents, participants with ASD made judgments based on nonverbal contents less frequently with longer time and could not induce enough activation in the medial prefrontal cortex. Therefore, our main outcomes and measures were the frequency of the nonverbal information-based judgments (NVJs), the response time for NVJs, and brain activity of the medial prefrontal cortex during NVJs.
RESULTS Intranasal oxytocin enabled the participants to make NVJs more frequently (P = .03) with shorter response time (P = .02). During the mitigated behavior, oxytocin increased the originally diminished brain activity in the medial prefrontal cortex (P < .001). Moreover, oxytocin enhanced functional coordination in the area (P < .001), and the magnitude of these neural effects was predictive of the behavioral effects (P <= .01).
CONCLUSIONS AND RELEVANCE These findings provide the first neurobiological evidence for oxytocin's beneficial effects on sociocommunicational deficits of ASD and give us the initial account for neurobiological mechanisms underlying any beneficial effects of the neuropeptide.
C1 [Watanabe, Takamitsu; Yahata, Noriaki; Takano, Yosuke; Iwashiro, Norichika; Natsubori, Tatsunobu; Aoki, Yuta; Kasai, Kiyoto; Yamasue, Hidenori] Univ Tokyo, Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan.
[Watanabe, Takamitsu; Miyashita, Yasushi] Univ Tokyo, Sch Med, Dept Physiol, Tokyo 1138655, Japan.
[Abe, Osamu] Nihon Univ, Sch Med, Dept Radiol, Tokyo, Japan.
[Abe, Osamu; Takao, Hidemasa] Univ Tokyo, Sch Med, Dept Radiol, Tokyo 1138655, Japan.
[Kuwabara, Hitoshi; Kawakubo, Yuki] Univ Tokyo, Sch Med, Dept Child Neuropsychiat, Tokyo 1138655, Japan.
[Yahata, Noriaki] Univ Tokyo, Global Ctr Excellence Program, Tokyo 1138655, Japan.
[Kamio, Yoko] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, Tokyo, Japan.
[Kato, Nobumasa; Yamasue, Hidenori] Showa Univ, Sch Med, Dept Neuropsychiat, Tokyo 142, Japan.
[Yamasue, Hidenori] Japan Sci & Technol Agcy, Tokyo, Japan.
RP Yamasue, H (reprint author), Univ Tokyo, Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM yamasue-tky@umin.ac.jp
FU Japan Society for the Promotion of Science [22689034, 20591378]; Global
Center of Excellence Program; Japan Society for the Promotion of Science
Research Foundation for Young Scientists [222882]
FX This work was supported by Grants-in-Aid for Scientific Research
(KAKENHI) 22689034 (Dr Yamasue) and 20591378 (Dr Yahata) from the Japan
Society for the Promotion of Science, by the Global Center of Excellence
Program (Dr Yahata), and by grant 222882 from the Japan Society for the
Promotion of Science Research Foundation for Young Scientists (Dr
Watanabe).
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NR 53
TC 9
Z9 9
PU AMER MEDICAL ASSOC
PI CHICAGO
PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA
SN 2168-622X
EI 2168-6238
J9 JAMA PSYCHIAT
JI JAMA Psychiatry
PD FEB
PY 2014
VL 71
IS 2
BP 166
EP 175
DI 10.1001/jamapsychiatry.2013.3181
PG 10
WC Psychiatry
SC Psychiatry
GA AA8UN
UT WOS:000331370600008
PM 24352377
ER
PT J
AU Heerey, EA
AF Heerey, Erin A.
TI Learning From Social Rewards Predicts Individual Differences in Self-
Reported Social Ability
SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL
LA English
DT Article
DE social rewards; smiles; learning; social cognition; social skill
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; FACIAL EXPRESSIONS;
DECISION-MAKING; SEX-DIFFERENCES; EYE GAZE; SPECTRUM; EMOTION; ADULTS;
ATTENTION
AB The ability to adapt face-to-face social behavior in response to an interaction's changing contingencies is an important aspect of social skill. Individual differences in social ability may depend on how well people learn from social rewards and punishments. Here we relate people's social aptitude to their ability to learn from differences in the reward values of two common social reinforcers, genuine and polite smiles. In a series of experiments, participants experienced a hidden social contingency in which they either learned to repeat actions that received genuine smile feedback and switch after polite smiles or the reverse. A condition with nonsocial feedback served as a comparison measure. Participants showed better ability to repeat actions reinforced with genuine smile feedback than with nonsocial feedback. When participants were required to switch actions following genuine smiles, performance was inhibited relative to nonsocial reinforcement. The ability to detect task contingencies and learn from social rewards predicted self-reported social ability. These novel results suggest that individual differences in reinforcement learning, and particularly in people's motivation to receive social rewards, may relate to social ability in face-to-face interactions. This finding has important implications for understanding the social difficulties that characterize disorders such as autism, depression, and schizophrenia, in which the ability to learn from rewards may be compromised.
C1 [Heerey, Erin A.] Bangor Univ, Bangor LL57 2AS, Gwynedd, Wales.
RP Heerey, EA (reprint author), Bangor Univ, Sch Psychol, Brigantia Bldg, Bangor LL57 2AS, Gwynedd, Wales.
EM e.heerey@bangor.ac.uk
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NR 37
TC 0
Z9 0
PU AMER PSYCHOLOGICAL ASSOC
PI WASHINGTON
PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA
SN 0096-3445
EI 1939-2222
J9 J EXP PSYCHOL GEN
JI J. Exp. Psychol.-Gen.
PD FEB
PY 2014
VL 143
IS 1
BP 332
EP 339
DI 10.1037/a0031511
PG 8
WC Psychology, Experimental
SC Psychology
GA AA7TA
UT WOS:000331298600029
PM 23339334
ER
PT J
AU de Bartolomeis, A
Latte, G
Tomasetti, C
Iasevoli, F
AF de Bartolomeis, Andrea
Latte, Gianmarco
Tomasetti, Carmine
Iasevoli, Felice
TI Glutamatergic Postsynaptic Density Protein Dysfunctions in Synaptic
Plasticity and Dendritic Spines Morphology: Relevance to Schizophrenia
and Other Behavioral Disorders Pathophysiology, and Implications for
Novel Therapeutic Approaches
SO MOLECULAR NEUROBIOLOGY
LA English
DT Article
DE Psychosis; Antipsychotics; Synapse; PSD-95; Homer; Shank
ID AUTISM SPECTRUM DISORDERS; LONG-TERM DEPRESSION; INTERACTING PSD
PROTEINS; DISC1 TRANSGENIC MICE; NMDA RECEPTOR SUBUNIT; GENETIC MOUSE
MODELS; FRAGILE-X-SYNDROME; FOS MESSENGER-RNA; PREFRONTAL CORTEX;
ANTIPSYCHOTIC-DRUGS
AB Emerging researches point to a relevant role of postsynaptic density (PSD) proteins, such as PSD-95, Homer, Shank, and DISC-1, in the pathophysiology of schizophrenia and autism spectrum disorders. The PSD is a thickness, detectable at electronic microscopy, localized at the postsynaptic membrane of glutamatergic synapses, and made by scaffolding proteins, receptors, and effector proteins; it is considered a structural and functional crossroad where multiple neurotransmitter systems converge, including the dopaminergic, serotonergic, and glutamatergic ones, which are all implicated in the pathophysiology of psychosis. Decreased PSD-95 protein levels have been reported in postmortem brains of schizophrenia patients. Variants of Homer1, a key PSD protein for glutamate signaling, have been associated with schizophrenia symptoms severity and therapeutic response. Mutations in Shank gene have been recognized in autism spectrum disorder patients, as well as reported to be associated to behaviors reminiscent of schizophrenia symptoms when expressed in genetically engineered mice. Here, we provide a critical appraisal of PSD proteins role in the pathophysiology of schizophrenia and autism spectrum disorders. Then, we discuss how antipsychotics may affect PSD proteins in brain regions relevant to psychosis pathophysiology, possibly by controlling synaptic plasticity and dendritic spine rearrangements through the modulation of glutamate-related targets. We finally provide a framework that may explain how PSD proteins might be useful candidates to develop new therapeutic approaches for schizophrenia and related disorders in which there is a need for new biological treatments, especially against some symptom domains, such as negative symptoms, that are poorly affected by current antipsychotics.
C1 [de Bartolomeis, Andrea; Latte, Gianmarco; Tomasetti, Carmine; Iasevoli, Felice] Univ Naples Federico II, Sch Med, Dept Neurosci Reprod & Odontostomatol Sci,Sect Ps, Lab Mol & Translat Psychiat,Unit Treatment Resist, I-80131 Naples, Italy.
RP de Bartolomeis, A (reprint author), Univ Naples Federico II, Sch Med, Dept Neurosci Reprod & Odontostomatol Sci,Sect Ps, Lab Mol & Translat Psychiat,Unit Treatment Resist, Via Pansini 5, I-80131 Naples, Italy.
EM adebarto@unina.it
FU Astra Zeneca; Janssen-Cilag; Lundbeck; Astra-Zeneca Italia;
Janssen-Cilag Italy; Eli Lilly; Bristol-Myers Squibb
FX Andrea de Bartolomeis has received unrestricted research funding from
Astra Zeneca, Janssen-Cilag, and Lundbeck. The funding was made
available to the Department of Neuroscience, University of Naples
Federico II. He has received honoraria as speaker at educational
activity sponsored by Astra-Zeneca Italia, Janssen-Cilag Italy, Eli
Lilly, and Bristol-Myers Squibb.
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NR 180
TC 4
Z9 4
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0893-7648
EI 1559-1182
J9 MOL NEUROBIOL
JI Mol. Neurobiol.
PD FEB
PY 2014
VL 49
IS 1
BP 484
EP 511
DI 10.1007/s12035-013-8534-3
PG 28
WC Neurosciences
SC Neurosciences & Neurology
GA AA4EC
UT WOS:000331046800038
PM 23999870
ER
PT J
AU Kim, KC
Lee, DK
Go, HS
Kim, P
Choi, CS
Kim, JW
Jeon, SJ
Song, MR
Shin, CY
AF Kim, Ki Chan
Lee, Dong-Keun
Go, Hyo Sang
Kim, Pitna
Choi, Chang Soon
Kim, Ji-Woon
Jeon, Se Jin
Song, Mi-Ryoung
Shin, Chan Young
TI Pax6-Dependent Cortical Glutamatergic Neuronal Differentiation Regulates
Autism-Like Behavior in Prenatally Valproic Acid-Exposed Rat Offspring
SO MOLECULAR NEUROBIOLOGY
LA English
DT Article
DE Autism spectrum disorders; Glutamatergic neuronal differentiation;
Glutamate receptor antagonist; Pax6; Valproic acid
ID FRAGILE-X-SYNDROME; PERVASIVE DEVELOPMENTAL DISORDERS; NMDA RECEPTOR
HYPOFUNCTION; MOUSE MODEL; PREPULSE INHIBITION; SPECTRUM DISORDERS;
PROGENITOR CELLS; PAX6 CONTROLS; ANIMAL-MODEL; STEM-CELL
AB Imbalance in excitatory/inhibitory signal in the brain has been proposed as one of the main pathological features in autism spectrum disorders, although the underlying cellular and molecular mechanism is unclear yet. Because excitatory/inhibitory imbalance can be induced by aberration in glutamatergic/GABAergic neuronal differentiation, we investigated the mechanism of dysregulated neuronal differentiation between excitatory and inhibitory neurons in the embryonic and postnatal brain of prenatally valproic acid-exposed rat offspring, which is often used as an animal model of autism spectrum disorders. Transcription factor Pax6, implicated in glutamatergic neuronal differentiation, was transiently increased in embryonic cortex by valproate exposure, which resulted in the increased expression of glutamatergic proteins in postnatal brain of offspring. Chromatin immunoprecipitation showed increased acetylated histone binding on Pax6 promoter region, which may underlie the transcriptional up-regulation of Pax6. Other histone deacetylase (HDAC) inhibitors including TSA and SB but not valpromide, which is devoid of HDAC inhibitor activity, induced Pax6 up-regulation. Silencing Pax6 expression in cultured rat primary neural progenitor cells demonstrated that up-regulation of Pax6 plays an essential role in valproate-induced glutamatergic differentiation. Blocking glutamatergic transmission with MK-801 or memantine treatment, and to a lesser extent with MPEP treatment, reversed the impaired social behaviors and seizure susceptibility of prenatally valproate-exposed offspring. Together, environmental factors may contribute to the imbalance in excitatory/inhibitory neuronal activity in autistic brain by altering expression of transcription factors governing glutamatergic/GABAergic differentiation during fetal neural development, in conjunction with the genetic preload.
C1 [Kim, Ki Chan; Go, Hyo Sang] Seoul Natl Univ, Dept Pharmacol, Coll Pharm, Seoul, South Korea.
[Kim, Ki Chan; Go, Hyo Sang; Kim, Pitna; Choi, Chang Soon; Kim, Ji-Woon; Shin, Chan Young] Konkuk Univ, SMART Inst Adv Biomed Sci, Ctr Res Neurosci, Seoul, South Korea.
[Lee, Dong-Keun; Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Sch Life Sci, Bioimaging Res Ctr, Kwangju 500712, South Korea.
[Lee, Dong-Keun; Song, Mi-Ryoung] Gwangju Inst Sci & Technol, Sch Life Sci, Cell Dynam Res Ctr, Kwangju 500712, South Korea.
[Kim, Pitna; Choi, Chang Soon; Kim, Ji-Woon; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Pharmacol, Seoul 143701, South Korea.
[Jeon, Se Jin] Univ Calif Los Angeles, Dept Psychiat, Sch Med, Los Angeles, CA 90095 USA.
RP Song, MR (reprint author), Gwangju Inst Sci & Technol, Sch Life Sci, Bioimaging Res Ctr, Kwangju 500712, South Korea.
EM msong@gist.ac.kr; chanyshin@kku.ac.kr
FU National Research Foundation of Korea (NRF) [2011-0014258,
2012K2A1A2032549]; Korea government (MEST)
FX This work was supported by Mid-career Researcher Program (2011-0014258)
and the framework of international cooperation program
(2012K2A1A2032549) through the National Research Foundation of Korea
(NRF) grant funded by the Korea government (MEST).
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NR 80
TC 6
Z9 6
PU HUMANA PRESS INC
PI TOTOWA
PA 999 RIVERVIEW DRIVE SUITE 208, TOTOWA, NJ 07512 USA
SN 0893-7648
EI 1559-1182
J9 MOL NEUROBIOL
JI Mol. Neurobiol.
PD FEB
PY 2014
VL 49
IS 1
BP 512
EP 528
DI 10.1007/s12035-013-8535-2
PG 17
WC Neurosciences
SC Neurosciences & Neurology
GA AA4EC
UT WOS:000331046800039
PM 24030726
ER
PT J
AU Turygin, N
Matson, JL
Williams, LW
Belva, BC
AF Turygin, Nicole
Matson, Johnny L.
Williams, Lindsey W.
Belva, Brian C.
TI The relationship of parental first concerns and autism spectrum disorder
in an early intervention sample
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Toddlers Early intervention; Child development; Battelle
Developmental Inventory; Parental concern
ID CHALLENGING BEHAVIORS; DEVELOPMENTAL DELAY; EARLY SYMPTOMS; INFANT
SCREEN; PDD-NOS; CHILDREN; TODDLERS; DIAGNOSIS; PSYCHOPATHOLOGY;
COMMUNICATION
AB Experts in the treatment of children with developmental disabilities emphasize the need to identify at-risk children at an early age. The ability to distinguish children at risk for particular developmental disabilities, such as autism (ASD), can help to target treatment to mitigate core symptoms and the deleterious effects of early delay on developmental trajectory. The present study investigates the relationship between parental first concerns (FC) (communication, social/emotional, cognitive/adaptive/global, behavior problems, motor, hyperactivity, and medical/other concerns) on ASD diagnosis in a sample of 2905 toddlers who presented for early intervention assessment in the state of Louisiana. We also examine whether developmental quotient (DQ) contributes to a diagnosis of ASD. Individuals deemed at-risk for a developmental disability represent a heterogeneous population, and this investigation aims to provide direction for identifying children likely to be diagnosed with an ASD according to parental perceptions of disability. Findings illustrating the differences in ASD diagnosis within each FC category are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Turygin, Nicole; Matson, Johnny L.; Williams, Lindsey W.; Belva, Brian C.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Turygin, N (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM nturyg1@tigers.lsu.edu
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NR 47
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 FEB
PY 2014
VL 8
IS 2
BP 53
EP 60
DI 10.1016/j.rasd.2013.10.008
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600001
ER
PT J
AU Lorah, ER
Gilroy, SP
Hineline, PN
AF Lorah, Elizabeth R.
Gilroy, Shawn P.
Hineline, Philip N.
TI Acquisition of peer manding and listener responding in young children
with autism
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Mand; Listener responding; Picture communication; Peer manding; Autism
ID COMMUNICATION
AB Individuals diagnosed with an autism spectrum disorder demonstrate impairments in communication and social interaction. The importance of acquiring those skills, especially as young children, has been well established in the literature. Peer-mediated interventions have recently received much attention; however, its use is contingent upon access to typically developing peers, which is not always the case in all educational settings. Thus, it is often necessary for specific instruction to occur for matched peers when conducting instruction for peer-mediated communication. However, strategies for teaching these skills have not adequately addressed the role of the listener, especially that of a matched peer, within the instructional setting. Listener responding is a required component for teaching this type of behavior, for without it these emerging skills may not produce reinforcement. Once taught, the communicative skills will require reinforcement from peer-listeners if those skills are to be maintained beyond the instructional setting. The current study arranged for young children with autism to play both the speaking and listening roles in the acquisition of peer-mediated communication (i.e., mand) skills, within a multiple baseline design. The study resulted in increases in independent peer manding and listener responding in all three children. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lorah, Elizabeth R.] Univ Arkansas, Fayetteville, AR 72701 USA.
[Gilroy, Shawn P.; Hineline, Philip N.] Temple Univ, Philadelphia, PA 19122 USA.
RP Lorah, ER (reprint author), Univ Arkansas, Peabody Hall, Fayetteville, AR 72701 USA.
EM lorah@uark.edu
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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 FEB
PY 2014
VL 8
IS 2
BP 61
EP 67
DI 10.1016/j.rasd.2013.10.009
PG 7
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600002
ER
PT J
AU Mayes, SD
Calhoun, SL
Murray, MJ
Pearl, A
Black, A
Tierney, CD
AF Mayes, Susan Dickerson
Calhoun, Susan L.
Murray, Michael J.
Pearl, Amanda
Black, Amanda
Tierney, Cheryl D.
TI Final DSM-5 under-identifies mild Autism Spectrum Disorder: Agreement
between the DSM-5, CARS, CASD, and clinical diagnoses
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE DSM-5; Checklist for Autism Spectrum Disorder; Childhood Autism Rating
Scale
ID IV ASPERGERS-DISORDER; RATING-SCALE CARS; CHILDHOOD AUTISM;
YOUNG-CHILDREN; BEHAVIOR CHECKLIST; CRITERIA; SYMPTOMS; SPECIFICITY;
SENSITIVITY; TODDLERS
AB Agreement between the final DSM-5 ASD criteria, Childhood Autism Rating Scale (CARS), and Checklist for Autism Spectrum Disorder (CASD) was assessed in 143 children with ASD and other disorders (e.g., ADHD, intellectual disability, and oppositional defiant disorder). Diagnostic agreement between the CARS and CASD was high (94%), but their agreement with the DSM-5 was lower (84% and 88%). Agreement between the DSM-5 and both the CARS and CASD increased to 94% and diagnostic accuracy increased from 92% to 96% when one less DSM-5 social communication and interaction symptom was required for a diagnosis. Children with ASD not meeting DSM-5 criteria most often did not have criterion A2 (deficits in nonverbal social communication). Total scores on the DSM-5, CASD, and CARS were far higher for children with mild ASD (formerly PDDNOS) than no ASD, indicating that these children are clearly on the autism spectrum and are quite different from children with other disorders. However, only one child with mild ASD was identified by the DSM-5. This study and 11 others show that the DSM-5 under-identifies children with ASD, particularly children at the mild end of the spectrum. This can be rectified by requiring one less social communication and interaction symptom for a diagnosis. (C) 2013 Elsevier Ltd. All rights reserved.
C1 Penn State Coll Med, Dept Psychiat, Hershey, PA USA.
Penn State Coll Med, Dept Pediat, Hershey, PA USA.
RP Mayes, SD (reprint author), Hershey Med Ctr, Dept Psychiat H073, 500 Univ Dr, Hershey, PA 17033 USA.
EM smayes@psu.edu
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NR 34
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD FEB
PY 2014
VL 8
IS 2
BP 68
EP 73
DI 10.1016/j.rasd.2013.11.002
PG 6
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600003
ER
PT J
AU Beighley, JS
Matson, JL
Rieske, RD
Konst, MJ
Tureck, K
AF Beighley, Jennifer S.
Matson, Johnny L.
Rieske, Robert D.
Konst, Matthew J.
Tureck, Kimberly
TI Differences in communication skills in toddlers diagnosed with Autism
Spectrum Disorder according to the DSM-IV-TR and the DSM-5
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE ASD; DSM-5; Communication; Toddlers
ID INTENSIVE BEHAVIORAL INTERVENTIONS; SOCIAL-SKILLS; YOUNG-CHILDREN;
INFANT SCREEN; PDD-NOS; CRITERIA; ADULTS; RELIABILITY; PRESCHOOL;
EPILEPSY
AB The DSM-5 changes related to Autism Spectrum Disorder (ASD) are controversial, and much research is needed to determine possible implications of the diagnostic changes on early diagnosis and treatment for those with symptoms of the disorder. In the present study, the area of communication was examined, specifically related to the effect the DSM-5 changes have on scores of Expressive and Receptive communication in a sample of 3138 at-risk toddlers using the Battelle Developmental Inventory, Second Edition. Significant differences were not found in overall communication or Expressive Communication between toddlers who longer meet ASD criteria (n = 354) and those who continue to meet the new criteria (n = 486); a difference of only small effect size was found in Receptive communication. The toddlers who no longer met the new criteria represented a population of toddlers who were significantly more impaired than atypically developing peers who did not meet ASD criteria under either version of the DSM (n = 2298), with moderate effect sizes found in receptive, expressive, and overall communication. Importantly, results of the current study demonstrate that toddlers who no longer meet criteria do not differ from toddlers who continue to meet ASD criteria in their Expressive Communication, a common area of first concern noted by parents, and an area that is focused on during early intervention. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Beighley, Jennifer S.; Matson, Johnny L.; Rieske, Robert D.; Konst, Matthew J.; Tureck, Kimberly] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Beighley, JS (reprint author), Louisiana State Univ, Dept Psychol, 236 Audubon Hall, Baton Rouge, LA 70803 USA.
EM jenbeighley@gmail.com
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 63
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD FEB
PY 2014
VL 8
IS 2
BP 74
EP 81
DI 10.1016/j.rasd.2013.10.014
PG 8
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600004
ER
PT J
AU Lidstone, J
Uljarevic, M
Sullivan, J
Rodgers, J
McConachie, H
Freeston, M
Le Couteur, A
Prior, M
Leekam, S
AF Lidstone, Jane
Uljarevic, Mirko
Sullivan, Jillian
Rodgers, Jacqui
McConachie, Helen
Freeston, Mark
Le Couteur, Ann
Prior, Margot
Leekam, Susan
TI Relations among restricted and repetitive behaviors, anxiety and sensory
features in children with autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Arousal; Repetitive behaviors; Anxiety; Sensory features; Insistence on
sameness; Autism spectrum disorders
ID DIAGNOSTIC INTERVIEW; OVER-RESPONSIVITY; YOUNG-CHILDREN; INTERESTS;
QUESTIONNAIRE; ADOLESCENTS; MODULATION; SYMPTOMS; SAMPLE; MODEL
AB The purpose of this study was to explore how atypical reactions to sensory stimuli contribute to the relation between restricted and repetitive behaviors and anxiety in children with autism spectrum disorders (ASD). In Study I, factor analysis of restricted and repetitive behaviors was carried out using the Repetitive Behavior Questionnaire-2 (RBQ-2), completed by 120 parents of 2- to 17-year-olds with ASD. Two subtypes resulted: repetitive sensory and motor behaviors, and insistence on sameness, accounting for 40% of the variance. This two-factor solution was retained even when the sensory items of the RBQ-2 were removed. In Study 2, 49 of the same parents also completed the Spence Anxiety Scales and the Sensory Profile. The insistence on sameness factor was significantly associated with anxiety while the repetitive motor behaviors factor was not. The relation between anxiety and insistence on sameness was mediated by sensory avoiding and to a lesser extent by sensory sensitivity. Implications for arousal explanations of ASD and for clinical practice are discussed. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lidstone, Jane; Uljarevic, Mirko; Leekam, Susan] Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, Cardiff CF10 3AT, S Glam, Wales.
[Sullivan, Jillian] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 1TN, England.
[Rodgers, Jacqui; Freeston, Mark] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[McConachie, Helen; Le Couteur, Ann] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
[Prior, Margot] Univ Melbourne, Melbourne Sch Psychol Sci, Melbourne, Vic 3010, Australia.
RP Uljarevic, M (reprint author), Cardiff Univ, Sch Psychol, Wales Autism Res Ctr, Pk Pl, Cardiff CF10 3AT, S Glam, Wales.
EM uljarevicm@cardiff.ac.uk
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NR 54
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 1750-9467
EI 1878-0237
J9 RES AUTISM SPECT DIS
JI Res. Autism Spectr. Disord.
PD FEB
PY 2014
VL 8
IS 2
BP 82
EP 92
DI 10.1016/j.rasd.2013.10.001
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600005
ER
PT J
AU Foody, C
James, JE
Leader, G
AF Foody, Ciara
James, Jack E.
Leader, Geraldine
TI Parenting stress, salivary biomarkers, and ambulatory blood pressure in
mothers of children with Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Parenting; Stress; Cortisol; Ambulatory blood pressure;
Alpha-amylase
ID BRITISH HYPERTENSION SOCIETY; DEVELOPMENTAL-DISABILITIES;
BEHAVIOR-PROBLEMS; ALPHA-AMYLASE; INSTRUMENT; CORTISOL; HYPOCORTISOLISM;
PREVALENCE; CAREGIVERS; SUPPORT
AB Parenting a child with an Autism Spectrum Disorder (ASD) is often associated with high levels of stress. This in turn can undermine the success of early intervention, and lead to poorer health outcomes for parents. The present study investigated the effects of parenting a child with an ASD on self-reported parenting stress, salivary biomarkers, and 24-h ambulatory blood pressure. Seventy-four mothers of 2-14 year olds with an ASD diagnosis completed a questionnaire booklet, which contained measures of parenting stress, and parent and child characteristics. Mothers wore an ambulatory blood pressure monitor, which collected systolic and diastolic blood pressure and heart rate over a 24-h period. Saliva samples were collected for the purpose of measuring cortisol and alpha-amylase levels. High levels of parenting stress and anxiety, and moderately high levels of depression were reported. Mothers were found to have low cortisol levels, suggesting dysregulation of the HPA-axis and cortisol profile. Hierarchical multiple regression analyses revealed that quantity of unmet service needs, sleep problems, socialisation deficits, adaptive behaviour, and the coping strategies of self-blame and behavioural disengagement predicted maternal outcomes. Findings are discussed in relation to their implications for supporting parents of children with ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Foody, Ciara; James, Jack E.; Leader, Geraldine] Natl Univ Ireland, Sch Psychol, Galway, Ireland.
[James, Jack E.] Reykjavik Univ, Dept Psychol, Reykjavik, Iceland.
RP Foody, C (reprint author), Natl Univ Ireland, Sch Psychol, Galway, Ireland.
EM c.foody1@nuigalway.ie; jack@ru.is; geraldine.leader@nuigalway.ie
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NR 49
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 FEB
PY 2014
VL 8
IS 2
BP 99
EP 110
DI 10.1016/j.rasd.2013.10.015
PG 12
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600007
ER
PT J
AU van Steensel, FJA
Dirksen, CD
Bogels, SM
AF van Steensel, F. J. A.
Dirksen, C. D.
Bogels, S. M.
TI Cost-effectiveness of cognitive-behavioral therapy versus treatment as
usual for anxiety disorders in children with autism spectrum disorder
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Anxiety; COT; TAU; Cost-effectiveness
ID CONTROLLED-TRIAL; INTERVIEW; SYMPTOMS; EUROQOL; YOUTH; EQ-5D
AB The study's aim was to evaluate the cost-effectiveness of CBT compared to treatment as usual (TAU). In total, 49 children aged 8-18 years with ASD and comorbid anxiety disorders, and their parents, participated; 24 were assigned to CBT and 25 were assigned to TAU. Outcome measures were the percentage of children free from their primary anxiety disorder and quality adjusted life years (QALYs). Costs were measured using a retrospective cost-questionnaire. Effects and costs were assessed at pre-, post-, and three months after treatment. Effects and costs were not statistically different between CBT and TAU, however the incremental cost-effectiveness ratio (ICER) demonstrated that CBT dominates TAU. Bootstrapped ICERs demonstrated that CBT has a high probability to be more effective than TAU, however, the probability that either CBT or TAU is more costly did not differ much. Secondary analyses demonstrated fairly robust results. CBT seems a cost-effective intervention compared to TAU, however, long-term follow-ups and comparisons between CBT and specific TAUs are necessary. Cost-effectiveness analyses may help inform policy makers to decide how to treat anxiety disorders in children with ASD. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [van Steensel, F. J. A.; Bogels, S. M.] Univ Amsterdam, Res Inst Child Dev & Educ, NL-1012 WX Amsterdam, Netherlands.
[Dirksen, C. D.] Maastricht Univ, Dept Clin Epidemiol & Med Technol Assessment, Med Ctr, Maastricht, Netherlands.
RP van Steensel, FJA (reprint author), Univ Amsterdam, Res Inst Child Dev & Educ, NL-1012 WX Amsterdam, Netherlands.
EM f.j.a.vansteensel@uva.nl
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barrett PM, 2001, J CONSULT CLIN PSYCH, V69, P135, DOI 10.1037/0022-006X.69.1.135
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Van Steensel F. J. A., COGNITIVE BEHA UNPUB
Van Steensel F. J. A., 2012, ANXIETY QUALITY LIFE, DOI DOI 10.1080/15374416.2012.698725.EPUB
Van Steensel F.J. A., 2013, J AUTISM DEV DISORD, DOI DOI 10.1007/S10803-013-1835-6.EPUB
Willems DCM, 2009, INT J TECHNOL ASSESS, V25, P391, DOI 10.1017/S0266462309990171
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Wood JJ, 2010, CLIN PSYCHOL-SCI PR, V17, P281, DOI 10.1111/j.1468-2850.2010.01220.x
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 FEB
PY 2014
VL 8
IS 2
BP 127
EP 137
DI 10.1016/j.rasd.2013.11.001
PG 11
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600009
ER
PT J
AU Matson, JL
Goldin, RL
AF Matson, Johnny L.
Goldin, Rachel L.
TI Early Intensive Behavioral Interventions: Selecting behaviors for
treatment and assessing treatment effectiveness
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Early Intensive Behavioral Intervention; Target behaviors;
Treatment outcome
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDER;
YOUNG-CHILDREN; DASH-II; INTELLECTUAL DISABILITY; DIAGNOSTIC-ASSESSMENT;
MENTAL-RETARDATION; FEEDING PROBLEMS; INFANTS; SCHOOL
AB Early Intensive Behavioral Interventions (EIBI) is well established as the most effective treatment for young children with Autism Spectrum Disorders (ASD). A hallmark of this intervention model is the bundling of multiple behaviors simultaneously for intervention. With the addition of various comorbid problems such as challenging behaviors and psychopathology, it becomes incumbent on clinicians to prioritize behaviors for intervention. Based on the studies conducted to date, little has been done in this regard. Additionally, general measures of ASD, adaptive behavior and cognitive functioning are primarily used to assess outcomes, many of these measures were not designed to assess treatment effects, and little evidence is available to link intervention to specific items on these scales. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Matson, Johnny L.; Goldin, Rachel L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgoldi3@lsu.edu
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NR 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 FEB
PY 2014
VL 8
IS 2
BP 138
EP 142
DI 10.1016/j.rasd.2013.11.005
PG 5
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600010
ER
PT J
AU Watkins, EE
Zimmermann, ZJ
Poling, A
AF Watkins, Erin E.
Zimmermann, Zachary J.
Poling, Alan
TI The gender of participants in published research involving people with
autism spectrum disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Autism; Autism spectrum disorder; Gender; Females; Males; Research
confound
ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDHOOD AUTISM; PREVALENCE
AB Research articles involving participants with an autism spectrum disorder and published from 2010 through 2012 in Autism,Journal of Autism and Developmental Disorders,Journal of Child Psychology and Child Psychiatry, and Research in Autism Spectrum Disorders were examined to determine the reported gender of participants. The overall male:female ratio was 4.62, which is similar to that reported in epidemiological studies, but the ratio was 6.07 in intervention studies. These findings suggesting that males were in a statistical sense over-represented in intervention studies, but not in other kinds of research. Most (82.21%) of these studies included both male and female participants, but direct comparisons of males and females with an autism spectrum disorder are scarce. Few of the articles we examined, 0.49% of the total, involved only female participants. Roughly half of the articles included comparison groups without an autism spectrum disorder. The percentage of male participants in these comparison groups was substantially and significantly lower than the percentage of males in groups with an autism spectrum disorder, which may in some cases constitute a methodological confound. We encourage researchers to carefully consider the gender of participants as both an extraneous variable and as an independent variable in future investigations. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Watkins, Erin E.; Zimmermann, Zachary J.; Poling, Alan] Western Michigan Univ, Dept Psychol, Kalamazoo, MI 49008 USA.
RP Poling, A (reprint author), Western Michigan Univ, Dept Psychol, Kalamazoo, MI 49008 USA.
EM alan.poling@wmich.edu
CR Autism Speaks, 2013, WHAT IS AUT
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NR 10
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 FEB
PY 2014
VL 8
IS 2
BP 143
EP 146
DI 10.1016/j.rasd.2013.10.010
PG 4
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600011
ER
PT J
AU Konst, MJ
Matson, JL
AF Konst, Matthew J.
Matson, Johnny L.
TI Comorbid psychopathology symptom rates in infants and toddlers with
Autism Spectrum Disorders
SO RESEARCH IN AUTISM SPECTRUM DISORDERS
LA English
DT Article
DE Comorbid psychopathology; Baby and Infant Screen for Children with
aUtism Traits-Part 2; Autism Spectrum Disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; II DASH-II; YOUNG-CHILDREN; PDD-NOS;
INTELLECTUAL DISABILITY; PSYCHIATRIC-DISORDERS; DIAGNOSTIC-ASSESSMENT;
MENTAL-RETARDATION; FEEDING PROBLEMS; BEHAVIORS
AB In comparison to both typically and atypically developing peers, researchers investigating the rates of comorbid psychopathology symptoms in infants and toddlers with an Autism Spectrum Disorder(ASD) have not been widespread. Additionally, the DSM-5 introduced structural criteria changes for the ASD diagnostic group. The current study included 205 infants between 17 and 37 months who were part of a screening program assessing children for developmental delays or a general medical condition placing them at risk for a developmental delay. Each participant was administered the Baby and Infant Screen for Children with aUtIsm Traits-Part 2 (BISCUIT-Part 2) as part of a broader screening package. The BISCUIT-Part 2 is a measure of comorbid psychopathology symptoms which includes a normative ASD group. Following completion of the screeners, participants were separated into either the ASD or atypically developing diagnostic categories based upon clinical diagnosis. The scores for each subscale of the BISCUIT-Part 2 were calculated and used to indicate the presence of comorbid symptoms. Statistical analyses identified that comorbid psychopathology symptoms occur at significantly greater rates in infants and toddlers diagnosed with ASD when compared to an atypically developing peer group. The implications of these findings as well as future directions are discussed. Published by Elsevier Ltd.
C1 [Konst, Matthew J.; Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
RP Konst, MJ (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM mkonst1@tigers.lsu.edu
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NR 95
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 FEB
PY 2014
VL 8
IS 2
BP 147
EP 155
DI 10.1016/j.rasd.2013.10.011
PG 9
WC Education, Special; Psychology, Developmental; Psychiatry;
Rehabilitation
SC Education & Educational Research; Psychology; Psychiatry; Rehabilitation
GA AA5RF
UT WOS:000331156600012
ER
PT J
AU Bracken, M
Rohrer, N
AF Bracken, Maeve
Rohrer, Nicole
TI Using an adapted form of the Picture Exchange Communication System to
increase independent requesting in deafblind adults with learning
disabilities
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Adapted PECS; Deafblind; Learning disability; Independent requesting
ID SEVERE DEVELOPMENTAL-DISABILITIES; AUTISM; PECS; CHILDREN; ACQUISITION;
STUDENT; SPEECH; IMPACT; SKILLS
AB The current study assessed the effectiveness of an adapted form of the Picture Exchange Communication System (PECS) in increasing independent requesting in deafblind adults with learning disabilities. PECS cards were created to accommodate individual needs, including adaptations such as enlarging photographs and using swelled images which consisted of images created on raised line drawing paper. Training included up to Phase III of PECS and procedures ensuring generalizations across individuals and contexts were included. The effects of the intervention were evaluated using a multiple baseline design across participants. Results demonstrated an increase in independent requesting with each of the participants reaching mastery criterion. These results suggest that PECS, in combination with some minor adaptations, may be an effective communicative alternative for individuals who are deafblind and have learning impairments. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Bracken, Maeve; Rohrer, Nicole] Univ Dublin Trinity Coll, Dublin 2, Ireland.
RP Bracken, M (reprint author), Univ Dublin Trinity Coll, Sch Psychol, Dublin 2, Ireland.
EM mbracken@tcd.ie
CR Axelrod S., 2002, BEHAV ANAL TODAY, V2, P259
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CHARGE Syndrome, 2013, AB CHARGE
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NR 32
TC 0
Z9 0
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0891-4222
J9 RES DEV DISABIL
JI Res. Dev. Disabil.
PD FEB
PY 2014
VL 35
IS 2
BP 269
EP 277
DI 10.1016/j.ridd.2013.10.031
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500004
PM 24316491
ER
PT J
AU Lance, EI
York, JM
Lee, LC
Zimmerman, AW
AF Lance, Eboni I.
York, Janet M.
Lee, Li-Ching
Zimmerman, Andrew W.
TI Association between regression and self injury among children with
autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Autism spectrum disorder; Regression; Self-injurious behaviors
ID YOUNG-CHILDREN; SPECTRUM DISORDERS; BEHAVIOR; DISABILITIES
AB Self injurious behaviors (SIBs) are challenging clinical problems in individuals with autism spectrum disorders (ASDs). This study is one of the first and largest to utilize inpatient data to examine the associations between autism, developmental regression, and SIBs. Medical records of 125 neurobehavioral hospitalized patients with diagnoses of ASDs and SIBs between 4 and 17 years of age were reviewed. Data were collected from medical records on the type and frequency of SIBs and a history of language, social, or behavioral regression during development. The children with a history of any type of developmental regression (social, behavioral, or language) were more likely to have a diagnosis of autistic disorder than other ASD diagnoses. There were no significant differences in the occurrence of self injurious or other problem behaviors (such as aggression or disruption) between children with and without regression. Regression may influence the diagnostic considerations in ASDs but does not seem to influence the clinical phenotype with regard to behavioral issues. Additional data analyses explored the frequencies and subtypes of SIBs and other medical diagnoses in ASDs, with intellectual disability and disruptive behavior disorder found most commonly. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Lance, Eboni I.; Zimmerman, Andrew W.] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA.
[Lance, Eboni I.] Johns Hopkins Univ Hosp, Dept Pediat, Baltimore, MD 21287 USA.
[York, Janet M.] Kennedy Krieger Inst, Neurobehav Unit, Baltimore, MD 21205 USA.
[Lance, Eboni I.; York, Janet M.; Lee, Li-Ching] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA.
RP Lance, EI (reprint author), 707 North Broadway, Baltimore, MD 21205 USA.
EM lance@kennedykrieger.org; janet.york@myactv.net; llee2@jhsph.edu;
AZIMMERMAN@PARTNERS.ORG
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
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NR 19
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 FEB
PY 2014
VL 35
IS 2
BP 408
EP 413
DI 10.1016/j.ridd.2013.11.014
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500018
PM 24342713
ER
PT J
AU Hellendoorn, A
Langstraat, I
Wijnroks, L
Buitelaar, JK
van Daalen, E
Leseman, PPM
AF Hellendoorn, Annika
Langstraat, Irene
Wijnroks, Lex
Buitelaar, Jan K.
van Daalen, Emma
Leseman, Paul P. M.
TI The relationship between atypical visual processing and social skills in
young children with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Autism; Atypical visual processing; Social skills; Embodiment
ID TRAITS QUESTIONNAIRE ESAT; SPECTRUM DISORDERS; ASPERGER-SYNDROME;
PERCEPTION; MOTION; AFFORDANCES; ATTENTION; COGNITION; INFANTS; PEOPLE
AB The present study examined whether atypical visual processing is related to the level of social skills in children with autism spectrum disorder (ASD). Thirty-eight young children with ASD (29 boys, 9 girls) were included. Atypical visual processing was assessed by coding the number of lateral glances and the amount of object grouping behavior on videotaped observations of the ADOS (aged 35 +/- 9 months). The level of social skills was measured using the subscale interpersonal relationships of the Vineland SEEC (32 +/- 7 months). A negative relationship with a medium effect size was found between lateral glances and interpersonal relationships. Object grouping behavior and interpersonal relationships were not related. This study suggests that visual perception may be a mechanism in the development of interpersonal relationships in ASD, which is in accordance with an embodied approach to social cognition. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Hellendoorn, Annika; Langstraat, Irene; Wijnroks, Lex; Leseman, Paul P. M.] Univ Utrecht, Dept Special Educ Cognit & Motor Disabil, NL-3508 TC Utrecht, Netherlands.
[Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, Nijmegen, Netherlands.
[Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat Univ Ctr, Nijmegen, Netherlands.
[van Daalen, Emma] Univ Med Ctr, Dept Child & Adolescent Psychiat, Utrecht, Netherlands.
RP Hellendoorn, A (reprint author), Univ Utrecht, Dept Special Educ Cognit & Motor Disabil, POB 80-140, NL-3508 TC Utrecht, Netherlands.
EM A.Hellendoorn@uu.nl
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NR 48
TC 2
Z9 2
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 FEB
PY 2014
VL 35
IS 2
BP 423
EP 428
DI 10.1016/j.ridd.2013.11.012
PG 6
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500020
PM 24361810
ER
PT J
AU Chang, YC
Lin, JD
Tung, HJ
Chiang, PH
Hsu, SW
AF Chang, Yu-Chia
Lin, Jin-Ding
Tung, Ho-Jui
Chiang, Po-Huang
Hsu, Shang-Wei
TI Outpatient physical therapy utilization for children and adolescents
with intellectual disabilities in Taiwan: A population-based nationwide
study
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Physical therapy; Children and adolescents; Intellectual disability;
Outpatient; Rehabilitation
ID REHABILITATION SERVICE UTILIZATION; HEALTH INTERVIEW SURVEY;
MENTAL-RETARDATION; CEREBRAL-PALSY; PREVALENCE; AUTISM; AGE
AB This study analyzed the utilization and utilization determinants of outpatient physical therapy (PT) among children and adolescents with intellectual disabilities (ID) in Taiwan. A cross-sectional study was conducted to analyze 2007 national health insurance (NHI) claim data from 35,802 eighteen-year-old and younger persons with intellectual disabilities. A total of 3944 (11.02%) claimants received outpatient physical therapy. Variables that affected PT utilization included age, residence urbanization level, ID level, copayment status and major co-morbidity. The average annual PT visit frequency was 25.4 +/- 33.0; pre-school children, claimants suffering from catastrophic disease and ID co-occurring with cerebral palsy had a higher mean cost per visit. Age, ID level, copayment status and co-morbidity were factors that influenced expenditure. Pre-school children, males, individuals who resided in the lowest urbanization areas and individuals with a catastrophic disease tended to use hospital services. The point prevalence of epilepsy and cerebral palsy were 12.10% and 19.80%, respectively. Despite the NHI program and government regulations to provide special services, the use of physical therapy for children and adolescents with intellectual disabilities was low, and the utilization decreased as the subjects aged. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Chang, Yu-Chia; Tung, Ho-Jui; Hsu, Shang-Wei] Asia Univ, Dept Healthcare Adm, Taichung 41354, Taiwan.
[Chang, Yu-Chia; Tung, Ho-Jui] Asia Univ, Res Ctr Hlth Policy & Management, Taichung 41354, Taiwan.
[Lin, Jin-Ding] Natl Def Med Ctr, Sch Publ Hlth, Taipei, Taiwan.
[Chiang, Po-Huang] Natl Hlth Res Inst, Inst Populat Hlth Sci, Miaoli, Taiwan.
[Chiang, Po-Huang; Hsu, Shang-Wei] China Med Univ, Dept Publ Hlth, Taichung, Taiwan.
RP Hsu, SW (reprint author), Asia Univ, Dept Healthcare Adm, 500 Lioufeng Rd, Taichung 41354, Taiwan.
EM victor_h@asia.edu.tw
RI Chiang, Po-Huang /E-3996-2010
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NR 30
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 FEB
PY 2014
VL 35
IS 2
BP 498
EP 505
DI 10.1016/j.ridd.2013.12.001
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500029
PM 24370652
ER
PT J
AU Marroquin, M
Alvero, A
Sturmey, P
AF Marroquin, Michael
Alvero, Alicia
Sturmey, Peter
TI Evaluation of the observer effect on compliance training in adolescents
with autism
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Compliance training; Behavioral observations; Observer effect; Autism;
Parent training
ID BEHAVIORAL OBSERVATIONS
AB Three mothers conducted behavioral observations of video clips of a mother conducting compliance training to varying degrees of accuracy. Subsequently, two mothers correctly conducted compliance training and their children emitted compliant behavior. Upon addition of feedback, the third mother correctly implemented compliance training and her child also emitted complaint behavior. Conducting behavioral observations may be a viable and efficient option for training parents to conduct compliance training and, if ineffective, can be supplemented by feedback. (C) 2013 Published by Elsevier Ltd.
C1 [Sturmey, Peter] CUNY Queens Coll, Flushing, NY 11367 USA.
CUNY Grad Sch & Univ Ctr, New York, NY USA.
RP Sturmey, P (reprint author), CUNY Queens Coll, Flushing, NY 11367 USA.
EM psturmey@gmail.com
CR Alvero AM, 2008, J SAFETY RES, V39, P365, DOI 10.1016/j.jsr.2008.05.004
Alvero AM, 2004, J APPL BEHAV ANAL, V37, P457, DOI 10.1901/jaba.2004.37-457
Baio J., 2008, SURVEILLANCE SUMMARI, V61, pSS03
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National Autism Center, 2009, NAT AUST STAND REP
Sarakoff R. A., 2004, J APPL BEHAV ANAL, V37, P535
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Sasson J.-R., 2005, J ORGAN BEHAV MANAGE, V23, P1
Thomas BR, 2013, RES DEV DISABIL, V34, P2143, DOI 10.1016/j.ridd.2013.03.033
Ward-Horner J, 2008, BEHAV INTERVENT, V23, P271, DOI 10.1002/bin.268
Wilder DA, 2012, J APPL BEHAV ANAL, V45, P121, DOI 10.1901/jaba.2012.45-121
Wilder DA, 2010, J APPL BEHAV ANAL, V43, P601, DOI 10.1901/jaba.2010.43-601
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 FEB
PY 2014
VL 35
IS 2
BP 537
EP 540
DI 10.1016/j.ridd.2013.11.008
PG 4
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500034
PM 24378631
ER
PT J
AU Fetherston, AM
Sturmey, P
AF Fetherston, Anne M.
Sturmey, Peter
TI The effects of behavioral skills training on instructor and learner
behavior across responses and skill sets
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Behavioral skills training; Autism; Care staff; Discrete trial teaching;
Incidental teaching; Activity schedules
ID IMPLEMENTATION
AB Behavioral skills training (BST) is effective to train staff to provide intervention to people with developmental disabilities. The purpose of this study was to assess whether: (a) prior studies demonstrating the effectiveness of BST could be systematically replicated while teaching multiple teaching instructors to implement discrete trial teaching, incidental teaching and activity schedules; (b) instructional skills that staff acquired during training on one response generalized to a variety of instructional programs, (c) positive changes in staff performance produced positive behavior change in learners; and (d) positive changes in learner behavior generalized to novel programs. BST resulted in positive behavior change across staff, learners, instructional programs, and various teaching skills. Further, staff generalized teaching skills to novel responses and learners displayed increases in correct responding for all three instructional procedures. Social validity data indicated they these staff training procedures were highly acceptable and effective. Thus, BST is an effective and acceptable staff training procedure. (C) 2013 Published by Elsevier Ltd.
C1 [Sturmey, Peter] CUNY Queens Coll, Flushing, NY 11367 USA.
CUNY, Grad Ctr, New York, NY USA.
RP Sturmey, P (reprint author), CUNY Queens Coll, Flushing, NY 11367 USA.
EM psturmey@gmail.com
CR Dib N, 2007, J APPL BEHAV ANAL, V40, P339, DOI 10.1901/jaba.2007.52-06
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Sarokoff R. A., 2007, RES AUTISM SPECT DIS, V2, P125
Sarokoff RA, 2004, J APPL BEHAV ANAL, V37, P535, DOI 10.1901/jaba.2004.37-535
Seiverling L, 2010, BEHAV INTERVENT, V25, P53, DOI 10.1002/bin.293
Ward-Horner J, 2008, BEHAV INTERVENT, V23, P271, DOI 10.1002/bin.268
NR 9
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 FEB
PY 2014
VL 35
IS 2
BP 541
EP 562
DI 10.1016/j.ridd.2013.11.006
PG 22
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500035
PM 24374896
ER
PT J
AU Roberts, JE
Tonnsen, BL
Robinson, M
McQuillin, SD
Hatton, DD
AF Roberts, Jane E.
Tonnsen, Bridgette L.
Robinson, Marissa
McQuillin, Samuel D.
Hatton, Deborah D.
TI Temperament factor structure in fragile X syndrome: The Children's
Behavior Questionnaire
SO RESEARCH IN DEVELOPMENTAL DISABILITIES
LA English
DT Article
DE Temperament; Fragile X syndrome; Factor analysis
ID WILLIAMS-SYNDROME; EARLY-CHILDHOOD; YOUNG BOYS; PERSONALITY; ANXIETY;
PSYCHOPATHOLOGY; ASSOCIATIONS; CONTINUITY; ATTENTION; AUTISM
AB Early patterns of temperament lay the foundation for a variety of developmental constructs such as self-regulation, psychopathology, and resilience. Children with fragile X syndrome (FXS) display unique patterns of temperament compared to age-matched clinical and non-clinical samples, and early patterns of temperament have been associated with later anxiety in this population. Despite these unique patterns in FXS and recent reports of atypical factor structure of temperament questionnaires in Williams Syndrome (Leyfer, John, Woodruff-Borden, & Mervis, 2012), no studies have examined the latent factor structure of temperament scales in FXS to ensure measurement validity in this sample. The present study used confirmatory factor analysis to examine the factor structure of a well-validated parent-reported temperament questionnaire, the Children's Behavior Questionnaire (Rothbart, Ahadi, Hershey, & Fisher, 2001), in a sample of 90 males with FXS ages 3-9 years. Our data produced a similar, but not identical, three-factor model that retained the original CBQ factors of negative affectivity, effortful control, and extraversion/surgency. In particular, our FXS sample demonstrated stronger factor loadings for fear and shyness than previously reported loadings in non-clinical samples, consistent with reports of poor social approach and elevated anxiety in this population. Although the original factor structure of the Children's Behavior Questionnaire is largely retained in children with FXS, differences in factor loading magnitudes may reflect phenotypic characteristics of the syndrome. These findings may inform future developmental and translational research efforts. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Roberts, Jane E.; Tonnsen, Bridgette L.; Robinson, Marissa] Univ S Carolina, Dept Psychol, Columbia, SC 29208 USA.
[McQuillin, Samuel D.] Univ Houston, Dept Educ Psychol, Houston, TX USA.
[Hatton, Deborah D.] Vanderbilt Univ, Dept Special Educ, Nashville, TN 37235 USA.
RP Roberts, JE (reprint author), Univ S Carolina, Dept Psychol, 1512 Pendleton St, Columbia, SC 29208 USA.
EM jane.roberts@sc.edu
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NR 37
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 FEB
PY 2014
VL 35
IS 2
BP 563
EP 571
DI 10.1016/j.ridd.2013.11.024
PG 9
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AA9KN
UT WOS:000331412500036
PM 24380785
ER
PT J
AU Naim-Feil, J
Fitzgerald, PB
Bradshaw, JL
Lubman, DI
Sheppard, D
AF Naim-Feil, Jodie
Fitzgerald, Paul B.
Bradshaw, John L.
Lubman, Dan I.
Sheppard, Dianne
TI Neurocognitive Deficits, Craving, and Abstinence among Alcohol-Dependent
Individuals Following Detoxification
SO ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
LA English
DT Article
DE Neurocognitive deficits; Alcohol dependence; Frontostriatal dysfunction;
Attentional control; Craving; Cognitive recovery
ID RANDOM-NUMBER-GENERATION; COMPULSIVE DRINKING SCALE; TRANSCRANIAL
MAGNETIC STIMULATION; DORSOLATERAL PREFRONTAL CORTEX; CHRONIC
METHAMPHETAMINE ABUSE; HIGH-FUNCTIONING AUTISM; TRAUMATIC BRAIN-INJURY;
STOP SIGNAL INHIBITION; RESPONSE-TASK SART; SUSTAINED-ATTENTION
AB Alcohol dependence, a chronic relapsing disorder, is characterized by an impaired ability to regulate compulsive urges to consume alcohol. Very few empirical studies have examined the presence of these executive deficits, how they relate to craving, and the enduring nature of these deficits during abstinence. As such, the current study aimed to characterize these cognitive deficits within a sample of 24 alcohol-dependent participants post-detoxification and 23 non-alcohol-dependent participants. Participants were administered the Sustained Attention to Response Task to measure response inhibition and sustained attention and the Random Number Generation Task to examine executive deficits. Correlations between cognitive performance and clinical measures of alcohol dependence were examined. As predicted, the alcohol-dependent group exhibited poorer performance across the domains of response inhibition, executive function, and attentional control. Cognitive performance was related to clinical measures of craving and years of alcohol consumption, whereas the duration of abstinence was not associated with improved cognitive performance. These findings highlight the need for therapeutic strategies to target these enduring neurocognitive deficits in improving the treatment of alcohol dependence.
C1 [Naim-Feil, Jodie; Fitzgerald, Paul B.] Alfred & Monash Univ, Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Prahran, Vic 3004, Australia.
[Naim-Feil, Jodie; Bradshaw, John L.] Monash Univ, Sch Psychol & Psychiat, Clayton, Vic, Australia.
[Lubman, Dan I.] Eastern Hlth, Turning Point Alcohol & Drug Ctr, Box Hill, Vic, Australia.
[Lubman, Dan I.] Monash Univ, Clayton, Vic 3800, Australia.
[Sheppard, Dianne] Monash Univ, Monash Injury Res Inst, Clayton, Vic, Australia.
RP Naim-Feil, J (reprint author), Alfred & Monash Univ, Cent Clin Sch, Monash Alfred Psychiat Res Ctr, Prahran, Vic 3004, Australia.
EM jodie@naimfeil.org
RI Fitzgerald, Paul/A-1225-2008
OI Fitzgerald, Paul/0000-0003-4217-8096
FU Graduate Women Victoria scholarship; NHMRC Practitioner Fellowship
FX J.N.-F. is a recipient of the Graduate Women Victoria scholarship, which
supported the development of this study. P.B.F. has received equipment
for research from Medtronic Ltd, MagVenture A/S, and Brainsway Ltd. He
has undertaken research with funding and equipment from Cervel
Neurotech. He is supported by a NHMRC Practitioner Fellowship.
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NR 106
TC 0
Z9 1
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 0887-6177
EI 1873-5843
J9 ARCH CLIN NEUROPSYCH
JI Arch. Clin. Neuropsychol.
PD FEB
PY 2014
VL 29
IS 1
BP 26
EP 37
DI 10.1093/arclin/act090
PG 12
WC Psychology, Clinical; Psychology
SC Psychology
GA AA1CA
UT WOS:000330832700004
PM 24334264
ER
PT J
AU Baruni, RR
Rapp, JT
Lipe, SL
Novotny, MA
AF Baruni, Rasha R.
Rapp, John T.
Lipe, Star L.
Novotny, Marissa A.
TI USING LAG SCHEDULES TO INCREASE TOY PLAY VARIABILITY FOR CHILDREN WITH
INTELLECTUAL DISABILITIES
SO BEHAVIORAL INTERVENTIONS
LA English
DT Article
ID APPLIED BEHAVIOR ANALYSIS; RESPONSE VARIABILITY; SOCIAL VALIDITY;
REPETITIVE BEHAVIOR; AUTISM; REINFORCEMENT; EXTINCTION; INDIVIDUALS;
MAINTENANCE; PREFERENCE
AB Relatively few studies have evaluated procedures for increasing play skills in children with intellectual disabilities. To address this limitation, this study evaluated the extent to which lag schedules increased novel toy play responses for three children who exhibited little or no appropriate toy play. Results show that the lag 1 schedule increased toy play variability for all three participants and the lag 2 schedule produced very little additional variability for the two participants exposed to this condition. The results of a social validity assessment suggest that classroom paraprofessionals (i) perceived the participants' toy play as typical and (ii) were satisfied with the outcomes produced by the lag schedules. We discuss the clinical implications and the potential limitations of the findings. Copyright (c) 2014 John Wiley & Sons, Ltd.
C1 [Baruni, Rasha R.; Lipe, Star L.; Novotny, Marissa A.] St Cloud State Univ, St Cloud, MN 56301 USA.
[Rapp, John T.] Auburn Univ, Dept Psychol, Auburn, AL 36849 USA.
RP Rapp, JT (reprint author), Auburn Univ, Dept Psychol, 226 Thach, Auburn, AL 36849 USA.
EM jtr0014@auburn.edu
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NR 30
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1072-0847
EI 1099-078X
J9 BEHAV INTERVENT
JI Behav. Intervent.
PD FEB
PY 2014
VL 29
IS 1
BP 21
EP 35
DI 10.1002/bin.1377
PG 15
WC Psychology, Clinical
SC Psychology
GA AA6QT
UT WOS:000331223700003
ER
PT J
AU Cardoso, C
Ellenbogen, MA
Linnen, AM
AF Cardoso, Christopher
Ellenbogen, Mark A.
Linnen, Anne-Marie
TI The Effect of Intranasal Oxytocin on Perceiving and Understanding
Emotion on the Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT)
SO EMOTION
LA English
DT Article
DE oxytocin; MSCEIT; emotion recognition; social salience; faces
ID BORDERLINE PERSONALITY-DISORDER; HIGH-FUNCTIONING AUTISM; FACIAL
EXPRESSIONS; SOCIAL-BEHAVIOR; EMPATHIC ACCURACY; ASPERGER-SYNDROME;
NEURAL BASES; RECOGNITION; HUMANS; AMYGDALA
AB Evidence suggests that intranasal oxytocin enhances the perception of emotion in facial expressions during standard emotion identification tasks. However, it is not clear whether this effect is desirable in people who do not show deficits in emotion perception. That is, a heightened perception of emotion in faces could lead to "oversensitivity" to the emotions of others in nonclinical participants. The goal of this study was to assess the effects of intranasal oxytocin on emotion perception using ecologically valid social and nonsocial visual tasks. Eighty-two participants (42 women) self-administered a 24 IU dose of intranasal oxytocin or a placebo in a double-blind, randomized experiment and then completed the perceiving and understanding emotion components of the Mayer-Salovey-Caruso Emotional Intelligence Test. In this test, emotion identification accuracy is based on agreement with a normative sample. As expected, participants administered intranasal oxytocin rated emotion in facial stimuli as expressing greater emotional intensity than those given a placebo. Consequently, accurate identification of emotion in faces, based on agreement with a normative sample, was impaired in the oxytocin group relative to placebo. No such effect was observed for tests using nonsocial stimuli. The results are consistent with the hypothesis that intranasal oxytocin enhances the salience of social stimuli in the environment, but not nonsocial stimuli. The present findings support a growing literature showing that the effects of intranasal oxytocin on social cognition can be negative under certain circumstances, in this case promoting "oversensitivity" to emotion in faces in healthy people.
C1 [Cardoso, Christopher; Ellenbogen, Mark A.; Linnen, Anne-Marie] Concordia Univ, Dept Psychol, Ctr Res Human Dev, Montreal, PQ H4B 1R6, Canada.
RP Ellenbogen, MA (reprint author), Concordia Univ, Dept Psychol, Ctr Res Human Dev, 7141 Sherbrooke St West, Montreal, PQ H4B 1R6, Canada.
EM mark.ellenbogen@concordia.ca
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NR 67
TC 3
Z9 3
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 FEB
PY 2014
VL 14
IS 1
BP 43
EP 50
DI 10.1037/a0034314
PG 8
WC Psychology, Experimental
SC Psychology
GA AA1TD
UT WOS:000330877700007
PM 24188065
ER
PT J
AU Lofkvist, U
Almkvist, O
Lyxell, B
Tallberg, IM
AF Lofkvist, Ulrika
Almkvist, Ove
Lyxell, Bjoern
Tallberg, Ing-Mari
TI Lexical and semantic ability in groups of children with cochlear
implants, language impairment and autism spectrum disorder
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Article
DE Children; Cochlear implants; Language impairment; Autism spectrum
disorder; Lexical and semantic ability; Picture naming
ID BOSTON NAMING TEST; LONG-TERM-MEMORY; DEAF-CHILDREN; HEARING-LOSS;
YOUNG-CHILDREN; NORMATIVE DATA; SPEECH; AGE; COMMUNICATION; OUTCOMES
AB Objective: Lexical-semantic ability was investigated among children aged 6-9 years with cochlear implants (CI) and compared to clinical groups of children with language impairment (LI) and autism spectrum disorder (ASD) as well as to age-matched children with normal hearing (NH). In addition, the influence of age at implantation on lexical-semantic ability was investigated among children with Cl.
Methods: 97 children divided into four groups participated, CI (n = 34), LI (n = 12), ASD (n = 12), and NH (n = 39). A battery of tests, including picture naming, receptive vocabulary and knowledge of semantic features, was used for assessment. A semantic response analysis of the erroneous responses on the picture-naming test was also performed.
Results: The group of children with Cl exhibited a naming ability comparable to that of the age-matched children with NH, and they also possessed a relevant semantic knowledge of certain words that they were unable to name correctly. Children with CI had a significantly better understanding of words compared to the children with LI and ASD, but a worse understanding than those with NH. The significant differences between groups remained after controlling for age and non-verbal cognitive ability.
Conclusions: The children with Cl demonstrated lexical-semantic abilities comparable to age-matched children with NH, while children with LI and ASD had a more atypical lexical-semantic profile and poorer sizes of expressive and receptive vocabularies. Dissimilar causes of neurodevelopmental processes seemingly affected lexical-semantic abilities in different ways in the clinical groups. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Lofkvist, Ulrika; Tallberg, Ing-Mari] Karolinska Univ Hosp, Div Speech & Language Pathol, SE-14186 Huddinge, Sweden.
[Lofkvist, Ulrika; Tallberg, Ing-Mari] Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Div Speech & Language Pathol, Stockholm, Sweden.
[Lofkvist, Ulrika; Lyxell, Bjoern] Linkoping Univ, Linnaeus HEAD, HEAD Grad Sch, Linkoping, Sweden.
[Lyxell, Bjoern] Linkoping Univ, Swedish Inst Disabil Res, Linkoping, Sweden.
[Almkvist, Ove] Stockholm Univ, Dept Psychol, S-10691 Stockholm, Sweden.
[Almkvist, Ove] Karolinska Univ Hosp, Karolinska Inst, Dept Neurobiol Care Sci & Soc NVS, Stockholm, Sweden.
RP Lofkvist, U (reprint author), Karolinska Univ Hosp, Div Speech & Language Pathol, B63, SE-14186 Huddinge, Sweden.
EM ulrikadofkvist@ki.se
FU Karolinska Institutet; Sunnerdahls Handikappfond; Stingerfonden; Aina
Borjesonfonden; HEAD Graduate School (Linnaeus HEAD, Linkoping
University)
FX The authors wish to thank all of the children who participated and their
parents for their contribution. The authors also want to thank Madelen
Snickars, Viire Kask, Emma Bergstrom and Idah Lubowa-Mubiru for their
help with recruitment and data collection. This research was supported
by Karolinska Institutet, Sunnerdahls Handikappfond, Stingerfonden, Aina
Borjesonfonden, and HEAD Graduate School (Linnaeus HEAD, Linkoping
University).
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World Health Organisation, 2000, INT STAT CLASS DIS R
NR 51
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD FEB
PY 2014
VL 78
IS 2
BP 253
EP 263
DI 10.1016/j.ijporl.2013.11.017
PG 11
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA AA2HQ
UT WOS:000330916100016
PM 24332667
ER
PT J
AU Kumar, S
Karmakar, P
Mohanan, A
AF Kumar, Suman
Karmakar, Probir
Mohanan, Akhil
TI Language regression in children with Autism Spectrum Disorders
SO INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
LA English
DT Article
DE Autism Spectrum Disorder; Linguistic and non linguistic regression;
Regression screening tool
ID PERVASIVE DEVELOPMENTAL DISORDERS; LANDAU-KLEFFNER-SYNDROME;
INFANTILE-AUTISM; SPEECH LOSS; PREVALENCE; CORTEX
AB Objectives: Regression in autism applies to the phenomenon of apparently normal early development followed by the loss of previously acquired skills and manifestation of symptoms of autism. Estimates of the frequency of regression in autism range from 10% to 50%. Although there are tools available to evaluate and diagnose Autism Spectrum Disorders, however, there is no published tool available in Indian context to identify the children with ASD at an early age. The study was aimed to describe the differences in language regression between children with ASD and typically developing children and also to determine the age of regression.
Methods: Regression screening tool, a questionnaire was developed based on Regression Supplement Form (Goldberg et al., 2003). The skills were validated by five Clinical Psychologists. It comprised of 16 skills which included domains like, 'spoken language and non verbal communication', 'social interest and responsiveness' and 'play and imagination'. This retrospective study was conducted on a single group. The participants consisted of parents of 30 children with ASD (22 males and 8 females).
Results: The findings revealed a significant regression in children with ASD. The mean regression age is 20.19 months (SD-5.2). The regression profile of the children with ASD revealed regression of language skills occurred at 19.16 months followed by non language skills at 20.5 months.
Conclusions: Based on the findings it can be stated that inclusion of regression screening tool will offer clinicians a convenient tool to examine the phenomena of regression in children with ASD and identify them as early as 21 months of age for early intervention. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Kumar, Suman; Karmakar, Probir; Mohanan, Akhil] ERC, AYJNIHH, Kolkata 700090, India.
RP Kumar, S (reprint author), ERC, AYJNIHH, BT Rd, Kolkata 700090, India.
EM sumannihh@gmail.com
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
Baird G, 2008, J AUTISM DEV DISORD, V38, P1827, DOI 10.1007/s10803-008-0571-9
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NR 42
TC 0
Z9 0
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0165-5876
EI 1872-8464
J9 INT J PEDIATR OTORHI
JI Int. J. Pediatr. Otorhinolaryngol.
PD FEB
PY 2014
VL 78
IS 2
BP 334
EP 338
DI 10.1016/j.ijporl.2013.12.004
PG 5
WC Otorhinolaryngology; Pediatrics
SC Otorhinolaryngology; Pediatrics
GA AA2HQ
UT WOS:000330916100031
PM 24380664
ER
PT J
AU Murphy, SM
Faulkner, DM
Farley, LR
AF Murphy, Suzanne M.
Faulkner, Dorothy M.
Farley, Laura R.
TI The Behaviour of Young Children with Social Communication Disorders
During Dyadic Interaction with Peers
SO JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
LA English
DT Article
DE Peer relations; Pragmatic language; Perspective-taking; Social
communication disorders; Micro-analysis; Collaborative task;
Collaboration; Social interaction
ID PRAGMATIC LANGUAGE IMPAIRMENT; AUTISM SPECTRUM DISORDERS; SCHOOL;
DIFFICULTIES; SKILLS; ADULT; WORK
AB Children with social communication disorders are known to experience more problematic peer relations than typically-developing children. However, detailed observation of their behaviour and communication during interaction with peers has not previously been undertaken. Micro-analytic observational methods were used to analyse the audio-taped interaction of children (N = 112) selected from mainstream schools (ages 5-6 years-old) on a computerised dyadic collaborative task. Comparisons were made between children with average-to-high- and low-pragmatic language skill as measured by the Test of Pragmatic Skills. Dyads were composed of an average-to-high-skilled child plus a low-skilled child (32 dyads), or of two average-to-high-skilled children (24 dyads). Consistently with their pragmatic language scores, low-skilled children were more likely to ignore other children's questions and requests than were average-to-high-skilled children. When average-to-high-skilled children worked with low-skilled children, as opposed to with other average-to-high-skilled children, they showed some sensitivity and adaptation to these children's difficulties; they used significantly more directives, clarification and provided more information. However, there was a cost in terms of the emotional tone of these interactions; when working with low-skilled children, the average-to-high-skilled children expressed considerably more negative feelings towards their partners than with another average-to-high-skilled child. In conclusion, observation of the interaction of average-to-high- and low-skilled children suggests promise for peer-assisted interventions and specifies which communicative behaviours could be targeted. However, care should be taken to manage the affective climate of these interactions for the benefit of all children involved.
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.
[Farley, Laura R.] Beech Close Resource Ctr, Child Mental Hlth Serv, Dunstable LU6 3SD, Beds, England.
[Farley, 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
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
ANDERSON AH, 1994, J CHILD LANG, V21, P439
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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 0091-0627
EI 1573-2835
J9 J ABNORM CHILD PSYCH
JI J. Abnorm. Child Psychol.
PD FEB
PY 2014
VL 42
IS 2
BP 277
EP 289
DI 10.1007/s10802-013-9772-6
PG 13
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AA0KF
UT WOS:000330783300010
PM 23794095
ER
PT J
AU Mandy, W
Roughan, L
Skuse, D
AF Mandy, William
Roughan, Laura
Skuse, David
TI Three Dimensions of Oppositionality in Autism Spectrum Disorder
SO JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
LA English
DT Article
DE Autism spectrum disorder (ASD); Oppositional defiant disorder (ODD)
symptoms; Conduct disorder symptoms; Angry and irritable symptoms;
Argumentative and defiant behavior; Vindictiveness; Diagnostic and
Statistical Manual-Fifth Edition (DSM-5)
ID DIFFICULTIES QUESTIONNAIRE; CONDUCT DISORDER; DEFIANT DISORDER;
PSYCHIATRIC-DISORDERS; DIAGNOSTIC INTERVIEW; CHILDREN; SYMPTOMS;
STRENGTHS; INDIVIDUALS; ADOLESCENTS
AB In autism spectrum disorder (ASD), symptoms of oppositional defiant disorder (ODD) are common but poorly understood. DSM-5 has adopted a tripartite model of ODD, parsing its features into 'angry and irritable symptoms' (AIS), 'argumentative and defiant behavior' (ADB) and 'vindictiveness'. This was based on findings in non-autistic populations that each of these dimensions of oppositionality has a distinct constellation of associations with internalising and externalising psychopathology. We applied the tripartite DSM-5 ODD model to ASD to test its generalisability beyond non-ASD populations; and to elucidate the nature of ODD symptoms in ASD. Participants were 216 verbally-fluent young people (mean age = 9.6 years, range 3.0 to 16.2 years, 82 % male) with ASD. Cross-sectional parent-and teacher-report data were analysed using bootstrap multiple regression to test the following predictions, derived from studies of non-ASD young people: (1) AIS will be the main predictor of internalising problems; (2) ADB will be the main predictor of ADHD symptoms; (3) all ODD traits will independently predict conduct disorder symptoms; (4) vindictiveness will be the main predictor of aggressive conduct problems. Our findings using both parent and teacher data were consistent with the non-ASD ODD literature. AIS were associated with internalising but not externalising problems; ADB and vindictiveness were associated with externalising but not internalising problems; and vindictiveness was the main predictor of aggression. The DSM-5 tripartite model of ODD appears to be generalisable to ASD: for people with an autistic disorder, AIS, ADB and vindictive dimensions of oppositionality have distinct associations with concurrent psychopathology, suggesting the need to assess them as separate constructs.
C1 [Mandy, William] UCL, Res Dept Clin Educ & Hlth Psychol, London WC1N 6BT, England.
[Roughan, Laura] Great Ormond St Hosp Sick Children, Dept Child & Adolescent Mental Hlth, London WC1N 3JH, England.
[Skuse, David] UCL Inst Child Hlth, Behav & Brain Sci Unit, London, England.
RP Mandy, W (reprint author), UCL, Res Dept Clin Educ & Hlth Psychol, Gower St, London WC1N 6BT, England.
EM w.mandy@ucl.ac.uk
CR American Psychiatric Association, 2013, DIAGN STAT MAN, V5th
American Psychiatric Association, 2000, DIAGN STAT MAN, V4th
Attwood T., 2007, EXPLORING FEELINGS C
Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7
Burke JD, 2012, J CHILD PSYCHOL PSYC, V53, P1176, DOI 10.1111/j.1469-7610.2012.02598.x
Burke JD, 2002, J AM ACAD CHILD PSY, V41, P1275, DOI 10.1097/01.CHI.0000024839.60748.E8
Gadow KD, 2008, J AUTISM DEV DISORD, V38, P1710, DOI 10.1007/s10803-008-0556-8
Gadow KD, 2005, AUTISM, V9, P392, DOI 10.1177/1362361305056079
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StataCorp, 2011, STAT STAT SOFTW REL
Sterba SK, 2010, J CHILD PSYCHOL PSYC, V51, P871, DOI 10.1111/j.1469-7610.2010.02234.x
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Stringaris A, 2009, J CHILD PSYCHOL PSYC, V50, P216, DOI 10.1111/j.1469-7610.2008.01989.x
Stringaris A, 2009, J AM ACAD CHILD PSY, V48, P404, DOI 10.1097/CHI.0b013e3181984f30
Tackett JL, 2005, J ABNORM PSYCHOL, V114, P483, DOI 10.1037/0021-843X.114.3.483
Tooby J, 2008, HDB EMOTIONS, P114
van Steensel FJA, 2011, CLIN CHILD FAM PSYCH, V14, P302, DOI 10.1007/s10567-011-0097-0
NR 40
TC 4
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0091-0627
EI 1573-2835
J9 J ABNORM CHILD PSYCH
JI J. Abnorm. Child Psychol.
PD FEB
PY 2014
VL 42
IS 2
BP 291
EP 300
DI 10.1007/s10802-013-9778-0
PG 10
WC Psychology, Clinical; Psychology, Developmental
SC Psychology
GA AA0KF
UT WOS:000330783300011
PM 23860740
ER
PT J
AU Horovitz, M
Matson, JL
AF Horovitz, Max
Matson, Johnny L.
TI The Baby and Infant Screen for Children with aUtIsm Traits-Part 1:
Age-based Scoring Procedures
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism; ASD; BISCUIT; Cutoffs; Psychometrics
ID PERVASIVE DEVELOPMENTAL DISORDER; INTENSIVE BEHAVIORAL INTERVENTION;
HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; MENTAL-RETARDATION;
YOUNG-CHILDREN; PDD-NOS; HOME VIDEOTAPES; SOCIAL-SKILLS; COMMUNICATION
DEVELOPMENT
AB As increasing interest and emphasis has been placed on early intervention for children with Autism Spectrum Disorders (ASD), the need for reliable and valid early assessment techniques has grown significantly. The Baby and Infant Screen for Children with aUtIsm Traits-Part 1 (BISCUIT-Part 1) is a measure designed to assess the core diagnostic features of infants and toddlers aged 17 to 37 months. While studies of the measure's psychometric properties have been promising, the measure's scoring procedures do not take the child's age into account. Given the significant amount of development that occurs in the first 3 years of life, the current paper examined the utility of age-based scoring procedures for the BISCUIT-Part 1. The BISCUIT-Part 1 was shown to have good to excellent discriminating ability for each age group. As age increased, higher cutoff scores were needed to distinguish toddlers with Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) from those with atypical development. A different pattern emerged when distinguishing PDD-NOS from autism, with toddlers in the middle age cohort requiring the highest cutoffs. The implications of these results, as well as possible areas of future research, are discussed.
C1 [Horovitz, Max; Matson, Johnny L.] Louisiana State Univ, Baton Rouge, LA 70803 USA.
[Matson, Johnny L.] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM johnmatson@aol.com
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NR 93
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 FEB
PY 2014
VL 26
IS 1
BP 1
EP 22
DI 10.1007/s10882-013-9340-6
PG 22
WC Rehabilitation
SC Rehabilitation
GA AA3DQ
UT WOS:000330973500001
ER
PT J
AU Tureck, K
Matson, JL
May, A
Whiting, SE
Davis, TE
AF Tureck, Kim
Matson, Johnny L.
May, Anna
Whiting, Sara E.
Davis, Thompson E., III
TI Comorbid Symptoms in Children with Anxiety Disorders Compared to
Children with Autism Spectrum Disorders
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism spectrum disorders; Anxiety disorders; Autism Spectrum
Disorders-Comorbidity for Children (ASD-CC); Comorbidity
ID PERVASIVE DEVELOPMENTAL DISORDERS; DSM-III DISORDERS; ASPERGER-SYNDROME;
DIFFERENTIAL-DIAGNOSIS; PSYCHIATRIC-DISORDERS; DEPRESSIVE-DISORDERS;
YOUNG-CHILDREN; CO-MORBIDITY; FOLLOW-UP; PDD-NOS
AB Autism spectrum disorders (ASD) have been shown to be highly comorbid with other psychological disorders. Currently, there is a dearth of research examining how comorbidity impacts the assessment of core symptoms and co-occurring problem behaviors in children with ASD. The present study evaluated the rates of comorbid symptoms in children with ASD and children with anxiety disorders. Participants included 29 children with ASD, 25 children with anxiety disorders, and 31 children with no psychological disorder who served as the control group. Commonly co-occurring internalizing and externalizing symptoms were assessed with the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC). Multivariate and univariate main effect analyses with post-hoc comparisons were conducted on seven symptom subscales (tantrum behaviors, repetitive behaviors, worry/depressed symptoms, avoidant behaviors, under-eating, overeating, and conduct problems). Children with ASD evinced higher rates of comorbid symptoms than children with anxiety disorders. Additionally, both children with ASD and those with anxiety disorders exhibited more comorbid symptoms than children in the control group. Our findings support the importance of conducting broadband assessments for comorbid symptoms when evaluating children with atypical development. Implications of these findings will be discussed in the context of previous research.
C1 [Tureck, Kim; Matson, Johnny L.; May, Anna; Whiting, Sara E.; Davis, Thompson E., III] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Tureck, K (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM kturec1@lsu.edu
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World Health Organization, 1992, INT CLASS DIS
NR 60
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 FEB
PY 2014
VL 26
IS 1
BP 23
EP 33
DI 10.1007/s10882-013-9342-4
PG 11
WC Rehabilitation
SC Rehabilitation
GA AA3DQ
UT WOS:000330973500002
ER
PT J
AU Greenberg, AL
Tomaino, ME
Charlop, MH
AF Greenberg, Alissa L.
Tomaino, Melaura Erickson
Charlop, Marjorie H.
TI Adapting the Picture Exchange Communication System to Elicit
Vocalizations in Children with Autism
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Autism Spectrum Disorders; Picture Exchange Communication System;
Speech; Time-delay
ID SPECTRUM DISORDERS; SPEECH DEVELOPMENT; TIME-DELAY; RESPONSE EFFORT;
PECS; BEHAVIOR; PRESCHOOLERS; DISABILITIES; METAANALYSIS; INDIVIDUALS
AB Little is known about the relationship between PECS training and vocalizations in children with limited verbal abilities (e.g., children who are unable to verbally imitate simple phrases). Study 1 used a multiple baseline design across children to examine the vocalizations of four children with autism during and after PECS training. At follow-up, three of the participants demonstrated higher frequencies of vocalizations than at baseline. Further, two of these participants used both PECS and vocalizations to mand at different times, but did not pair the two modalities. Study 2 was then conducted to determine if children with limited verbal abilities could be taught to pair PECS with spontaneous vocalizations using time-delay and verbal prompting procedures. By the end of Study 2, both participants made a spontaneous vocalization every time that they used PECS. Findings support the potential use of PECS as a component of a treatment package leading to verbal speech.
C1 [Greenberg, Alissa L.; Tomaino, Melaura Erickson] Claremont Grad Univ, Sch Behav & Org Sci, Claremont, CA 91711 USA.
[Greenberg, Alissa L.] Nationwide Childrens Hosp, Ctr Autism Spectrum Disorders, Westerville, OH 43081 USA.
[Tomaino, Melaura Erickson] Beacon Day Sch, La Palma, CA USA.
[Charlop, Marjorie H.] Claremont Mckenna Coll, Claremont, CA 91711 USA.
RP Greenberg, AL (reprint author), Nationwide Childrens Hosp, Ctr Autism Spectrum Disorders, 187 West Schrock Rd, Westerville, OH 43081 USA.
EM alissa.greenberg@nationwidechildrens.org
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Yoder P, 2006, J SPEECH LANG HEAR R, V49, P698, DOI 10.1044/1092-4388(2006/051)
NR 40
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 FEB
PY 2014
VL 26
IS 1
BP 35
EP 51
DI 10.1007/s10882-013-9344-2
PG 17
WC Rehabilitation
SC Rehabilitation
GA AA3DQ
UT WOS:000330973500003
ER
PT J
AU Ung, D
Arnold, EB
De Nadai, AS
Lewin, AB
Phares, V
Murphy, TK
Storch, EA
AF Ung, Danielle
Arnold, Elysse B.
De Nadai, Alessandro S.
Lewin, Adam B.
Phares, Vicky
Murphy, Tanya K.
Storch, Eric A.
TI Inter-rater Reliability of the Anxiety Disorders Interview Schedule for
DSM-IV in High-Functioning Youth with Autism Spectrum Disorder
SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
LA English
DT Article
DE Reliability; Inter-rater agreement; Parent and child interview; Anxiety
disorder interview schedule; Anxiety; Autism spectrum disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; COGNITIVE-BEHAVIORAL THERAPY;
OBSESSIVE-COMPULSIVE DISORDER; MULTIPLE INFORMANT AGREEMENT; STRUCTURED
INTERVIEW; PSYCHIATRIC-DISORDERS; COMORBID ANXIETY; CONTROLLED-TRIAL;
AGE-DIFFERENCES; CHILDREN
AB The present study examined inter-rater agreement on the Anxiety Disorder Interview Schedule DSM-IV Child and Parent Interview (ADIS-IV-C/P) in high-functioning youth with autism spectrum disorder and if age and ASD diagnosis moderated agreement. Diagnoses established for 70 7 to 16-year-old youth with ASD during a live administration of the ADIS-IV-C/P were compared to diagnoses identified by a second rater after listening to audiotaped recordings of the interviews. Clinician-to-clinician agreement on individual parent and child reports was excellent (k = 1.00). Inter-rater agreement on principal diagnoses (k = 0.91), individual anxiety diagnoses (k = 0.85-0.97), and other comorbid diagnoses (i.e., major depressive disorder, dysthymia, oppositional defiant disorder) (k = 0.89-1.00) were excellent; agreement did not differ as a function of ASD diagnosis or age. Results suggest good to excellent inter-rater agreement for disorders assessed by the ADIS-IV-C/P.
C1 [Ung, Danielle; De Nadai, Alessandro S.; Phares, Vicky] Univ S Florida, Tampa, FL USA.
[Arnold, Elysse B.; Lewin, Adam B.; Murphy, Tanya K.; Storch, Eric A.] Univ S Florida, St Petersburg, FL 33701 USA.
RP Storch, EA (reprint author), Univ S Florida, St Petersburg, FL 33701 USA.
EM estorch@health.usf.edu
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NR 51
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 FEB
PY 2014
VL 26
IS 1
BP 53
EP 65
DI 10.1007/s10882-013-9343-3
PG 13
WC Rehabilitation
SC Rehabilitation
GA AA3DQ
UT WOS:000330973500004
ER
PT J
AU Huang, TN
Chuang, HC
Chou, WH
Chen, CY
Wang, HF
Chou, SJ
Hsueh, YP
AF Huang, Tzyy-Nan
Chuang, Hsiu-Chun
Chou, Wen-Hsi
Chen, Chiung-Ya
Wang, Hsiao-Fang
Chou, Shen-Ju
Hsueh, Yi-Ping
TI Tbr1 haploinsufficiency impairs amygdalar axonal projections and results
in cognitive abnormality
SO NATURE NEUROSCIENCE
LA English
DT Article
ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; PROTEIN; EXPRESSION;
BRACHYURY; AXONIN-1; NEURONS; COMPLEX; CORTEX; GENES
AB The neuron-specific transcription factor T-box brain 1 (TBR1) regulates brain development. Disruptive mutations in the TBR1 gene have been repeatedly identified in patients with autism spectrum disorders (ASDs). Here, we show that Tbr1 haploinsufficiency results in defective axonal projections of amygdalar neurons and the impairment of social interaction, ultrasonic vocalization, associative memory and cognitive flexibility in mice. Loss of a copy of the Tbr1 gene altered the expression of Ntng1, Cntn2 and Cdh8 and reduced both inter- and intra-amygdalar connections. These developmental defects likely impair neuronal activation upon behavioral stimulation, which is indicated by fewer c-FOS-positive neurons and lack of GRIN2B induction in Tbr1(+/-) amygdalae. We also show that upregulation of amygdalar neuronal activity by local infusion of a partial NMDA receptor agonist, D-cycloserine, ameliorates the behavioral defects of Tbr1(+/-) mice. Our study suggests that TBR1 is important in the regulation of amygdalar axonal connections and cognition.
C1 [Huang, Tzyy-Nan; Chuang, Hsiu-Chun; Chou, Wen-Hsi; Chen, Chiung-Ya; Wang, Hsiao-Fang; Hsueh, Yi-Ping] Acad Sinica, Inst Mol Biol, Taipei, Taiwan.
[Chuang, Hsiu-Chun; Hsueh, Yi-Ping] Natl Def Med Ctr, Grad Inst Life Sci, Taipei, Taiwan.
[Chou, Shen-Ju] Acad Sinica, Inst Cellular & Organism Biol, Taipei 115, Taiwan.
RP Hsueh, YP (reprint author), Acad Sinica, Inst Mol Biol, Taipei, Taiwan.
EM yph@gate.sinica.edu.tw
FU National Research Program for Genomic Medicine, National Science
Council, Taiwan [NSC99-3112-B-001-020]; Academia Sinica; National
Science Council of Taiwan (NSC) [102-2321-B-001-054,
102-2321-B-001-029]; National Science Council (NSC) [102-2811-B-001-060,
102-2811-B-001-037]
FX We thank R. Hevner (University of Washington, Seattle) for the
Tbr1+/- mice; the Functional and Micro-Magnetic Resonance
Imaging Center (supported by the National Research Program for Genomic
Medicine, National Science Council, Taiwan, NSC99-3112-B-001-020); S.-Y.
Tung, the MicroArray Facility and the Bioinformatics Core of the
Institute of Molecular Biology and DNA MicroArray Core Facility of the
Institute of Plant and Microbial Biology, Academia Sinica; J. Kung and
Animal Facility of Institute of Molecular Biology, Academia Sinica;
C.-Y. Chang, W-R. Wong and C.-W. Tsai for technical assistance; C. Cepko
for pCAG-GFP; and M. Loney for English editing. This work was supported
by Academia Sinica and the National Science Council of Taiwan (NSC
102-2321-B-001-054 and 102-2321-B-001-029 to Y.-P.H.). T.-N.H. was
supported by National Science Council (NSC 102-2811-B-001-060). C.-Y.C.
was also supported by National Science Council (NSC 102-2811-B-001-037).
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NR 25
TC 8
Z9 9
PU NATURE PUBLISHING GROUP
PI NEW YORK
PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA
SN 1097-6256
EI 1546-1726
J9 NAT NEUROSCI
JI Nat. Neurosci.
PD FEB
PY 2014
VL 17
IS 2
BP 240
EP 247
DI 10.1038/nn.3626
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AA2FH
UT WOS:000330910000018
PM 24441682
ER
PT J
AU Jurecka, A
Zikanova, M
Jurkiewicz, E
Tylki-Szymanska, A
AF Jurecka, Agnieszka
Zikanova, Marie
Jurkiewicz, Elzbieta
Tylki-Szymanska, Anna
TI Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a
Review of the Literature
SO NEUROPEDIATRICS
LA English
DT Article
ID THIN-LAYER CHROMATOGRAPHY; CAPILLARY-ELECTROPHORESIS; URINARY
IMIDAZOLES; POLISH PATIENTS; CHILDREN; PATIENT; AUTISM; ADSL
C1 [Jurecka, Agnieszka] Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland.
[Jurecka, Agnieszka] Univ Gdansk, Dept Mol Biol, PL-80952 Gdansk, Poland.
[Zikanova, Marie] Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, CR-11636 Prague 1, Czech Republic.
[Zikanova, Marie] Gen Univ Hosp Prague, Prague, Czech Republic.
[Jurkiewicz, Elzbieta] Childrens Mem Hlth Inst, Dept Radiol, MR Unit, PL-04730 Warsaw, Poland.
[Tylki-Szymanska, Anna] Childrens Mem Hlth Inst, Dept Metab Dis, PL-04730 Warsaw, Poland.
RP Jurecka, A (reprint author), Childrens Mem Hlth Inst, Al Dzieci Polskich 20, PL-04730 Warsaw, Poland.
EM ajurecka@gmail.com
FU Czech Science Foundation [P305/12/P419]; Ministry of Education of Czech
Republic [LH11031]; Charles University in Prague [UNCE 204011,
PRVOUK-P24/LF1/3]
FX The biochemical measurements, DNA analysis, and molecular studies were
supported by a grant P305/12/P419 from the Czech Science Foundation and
grant LH11031 provided by The Ministry of Education of Czech Republic.
Institutional support was provided by UNCE 204011 and PRVOUK-P24/LF1/3
programs of the Charles University in Prague.
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NR 28
TC 2
Z9 2
PU GEORG THIEME VERLAG KG
PI STUTTGART
PA RUDIGERSTR 14, D-70469 STUTTGART, GERMANY
SN 0174-304X
EI 1439-1899
J9 NEUROPEDIATRICS
JI Neuropediatrics
PD FEB
PY 2014
VL 45
IS 1
BP 50
EP 55
PG 6
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA AA5GB
UT WOS:000331123000009
PM 23504561
ER
PT J
AU Hedvall, A
Westerlund, J
Fernell, E
Holm, A
Gillberg, C
Billstedt, E
AF Hedvall, Asa
Westerlund, Joakim
Fernell, Elisabeth
Holm, Anette
Gillberg, Christopher
Billstedt, Eva
TI Autism and developmental profiles in preschoolers: stability and change
over time
SO ACTA PAEDIATRICA
LA English
DT Article
DE Adaptive function; Autism spectrum disorder; Cognitive ability;
Developmental profiles; Preschool children
ID DISORDERS; CHILDREN; INTERVENTION; DIAGNOSIS; SYMPTOMS; AGE
AB AimIncreasing numbers of young children are now being diagnosed with autism spectrum disorder (ASD). This study aimed to analyse developmental trajectories in a representative group of preschool children with ASD.
MethodIn a naturalistic study, 208 preschool children with different subtypes of ASD were followed over a 2-year period. Their trajectories, as regards persistence of ASD diagnoses, developmental/intellectual levels, adaptive functioning and expressive speech, were monitored.
ResultsDevelopmental profiles showed considerable change over time, especially in children with atypical autism and in those with developmental delay/borderline intellectual functioning at their first assessment. Approximately 50% of the children were found to have intellectual disability (ID) at follow-up and, of these, the majority had severe ID. This was in contrast to the first assessment by the referral team when ID had rarely been mentioned or discussed.
ConclusionChanges in developmental profiles during preschool years are common in children with ASD. This implies that reassessments, covering different developmental areas, are needed. Such follow-up assessments prior to the start of school will yield a more valid estimation of the child's general cognitive level and a more accurate ASD diagnosis and thus form a better basis for realistic educational planning and intervention.
C1 [Hedvall, Asa; Fernell, Elisabeth; Gillberg, Christopher; Billstedt, Eva] Sahlgrens Acad, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden.
[Hedvall, Asa; Holm, Anette] Karolinska Univ Hosp, Dept Psychol, Stockholm, Sweden.
[Westerlund, Joakim] Stockholm Univ, Dept Psychol, S-10691 Stockholm, Sweden.
[Fernell, Elisabeth] Skaraborgs Hosp, Ctr Res & Dev, Skovde, Sweden.
RP Hedvall, A (reprint author), Sahlgrens Acad, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden.
EM asa.lundholm-hedvall@gnc.gu.se
FU Gillberg Neuropsychiatry Centre, University of Gothenburg; Wilhelm and
Martina Lundgren Foundation
FX The authors are grateful to parents and children participating in the
study and to personnel at the Autism Centre for Young Children. We are
also much indebted to psychologist Ingrid Adolfsson for her work in the
initial part of the study. Financial support was given from the Gillberg
Neuropsychiatry Centre, University of Gothenburg and the Wilhelm and
Martina Lundgren Foundation.
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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 0803-5253
EI 1651-2227
J9 ACTA PAEDIATR
JI Acta Paediatr.
PD FEB
PY 2014
VL 103
IS 2
BP 174
EP 181
DI 10.1111/apa.12455
PG 8
WC Pediatrics
SC Pediatrics
GA 304CJ
UT WOS:000330723200019
PM 24237479
ER
PT J
AU Landsberger, SA
Diaz, DR
Spring, NZ
Sheward, J
Sculley, C
AF Landsberger, Sarah A.
Diaz, David R.
Spring, Noah Z.
Sheward, Jerry
Sculley, Charleen
TI Psychiatric Diagnoses and Psychosocial Needs of Outpatient Deaf Children
and Adolescents
SO CHILD PSYCHIATRY & HUMAN DEVELOPMENT
LA English
DT Article
DE Deaf; Children; Adolescents; Diagnosis; Epidemiology
ID OF-HEARING CHILDREN; SUBSTANCE-ABUSE TREATMENT; MENTAL-HEALTH PROBLEMS;
IMPAIRED CHILDREN; BEHAVIOR PROBLEMS; PRENATAL RUBELLA; PREVALENCE;
PEOPLE; PSYCHOPATHOLOGY; SCHIZOPHRENIA
AB Deaf youth may be more vulnerable to psychiatric disorders but very little research data is available. The current study identified prevalence rates of psychiatric disorders and examined the psychosocial needs and strengths of deaf youth aged 4-17 receiving specialized outpatient mental health services for the deaf. Compared to hearing peers, deaf youth had greater rates of attention deficit hyperactivity disorder, conduct, autism-spectrum and bipolar disorders and spent three times longer in treatment than their hearing peers. In the deaf subsample, moderate-severe risk was found in social functioning (33.3 %) and suicidal behavior (14 %). Deaf youth had moderate to severe impairment in social relationships (54.8 %), school functioning (42.9 %). Over one-third of deaf youth had impaired family relationships, living situation, communication, judgment and physical health. Deaf youth present with higher rates of certain clinical disorders and have deficits in multiple life domains that may impact functioning and create a longer treatment course.
C1 [Landsberger, Sarah A.; Diaz, David R.; Spring, Noah Z.] Indiana Univ Sch Med, Dept Psychiat, IU Hlth Neurosci Ctr, Indianapolis, IN 46202 USA.
[Sheward, Jerry; Sculley, Charleen] Aspire Indiana Behav Hlth Syst, Noblesville, IN USA.
RP Landsberger, SA (reprint author), Indiana Univ Sch Med, Dept Psychiat, IU Hlth Neurosci Ctr, Goodman Hall,355 W 16th St,2nd Floor, Indianapolis, IN 46202 USA.
EM slandsbe@iupui.edu
CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Barnett S, 2011, PREV CHRONIC DIS, V8, P1
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NR 47
TC 1
Z9 1
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 FEB
PY 2014
VL 45
IS 1
BP 42
EP 51
DI 10.1007/s10578-013-0375-9
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA 304EO
UT WOS:000330730000005
PM 23504290
ER
PT J
AU Barneveld, PS
Swaab, H
Fagel, S
van Engeland, H
de Sonneville, LMJ
AF Barneveld, Petra S.
Swaab, Hanna
Fagel, Selene
van Engeland, Herman
de Sonneville, Leo M. J.
TI Quality of life: A case-controlled long-term follow-up study, comparing
young high-functioning adults with autism spectrum disorders with adults
with other psychiatric disorders diagnosed in childhood
SO COMPREHENSIVE PSYCHIATRY
LA English
DT Article
ID ASPERGER-SYNDROME; ANXIETY DISORDERS; CONDUCT DISORDER; CHILDREN;
ADOLESCENTS
AB Background: Long term outcome in childhood autism spectrum disorders (ASD) was evaluated by studying quality of life (QoL) in young adulthood in comparison to the outcome of other child psychiatric disorders.
Methods: In this follow-up study, objective and subjective QoL of 169 high-functioning (IQ > 70) adults with ASD (19 to 30 years) was contrasted with QoL data of age matched adults diagnosed with attention deficit/hyperactivity disorder (N = 85), disruptive behaviour disorders (N = 83), and affective disorders (N = 85) during childhood. The mean follow-up period of the ASD patients was 13.9 years. Objective QoL included marital status, living arrangements, level of education, employment, and usage of mental health care. Subjective QoL included satisfaction concerning living arrangements, work or education, physical condition, partner relationship, social relationships, state of mind, and future perspective.
Results: QoL was more compromised in adults diagnosed with ASD in childhood than in adults with other psychiatric disorders in childhood. A relatively large proportion of the adults with ASD were single, few lived with a partner or a family and many of them were institutionalized. Adults with ASD had lower educational levels, relatively few had paid employment and many were social security recipients, as compared to the other psychiatric patients. In case the adults with ASD used medication, 47% used anti-psychotics. Regarding the subjective QoL, the adults with ASD were less satisfied about their work or education, partner relationship, and future perspective than the other groups. Even when highly educated adults with ASD were compared to highly educated adults diagnosed with other childhood disorders, the QoL appeared to be more disadvantageous in adults with ASD.
Conclusion: Many studies have shown that QoL is threatened in psychiatric patients, but findings of this study indicate that young high-functioning adults diagnosed with ASD in childhood are at relatively high risk for poor QoL compared to other childhood psychiatric disorders. (C) 2014 Elsevier Inc. All rights reserved.
C1 [Barneveld, Petra S.; Swaab, Hanna; Fagel, Selene; de Sonneville, Leo M. J.] Leiden Univ, Dept Clin Child & Adolescent Studies, NL-2300 RB Leiden, Netherlands.
[Swaab, Hanna; de Sonneville, Leo M. J.] 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 American Psychiatric Association, 2000, DIAGNOSTIC AND STATI
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NR 30
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 FEB
PY 2014
VL 55
IS 2
BP 302
EP 310
DI 10.1016/j.comppsych.2013.08.001
PG 9
WC Psychiatry
SC Psychiatry
GA 301SA
UT WOS:000330551200009
PM 24290884
ER
PT J
AU Gan, SM
Tung, LC
Yeh, CH
Chang, HY
Wang, CH
AF Gan, Shu-Mei
Tung, Li-Chen
Yeh, Chyong-Hwa
Chang, Hsiao-Yun
Wang, Chun-Hou
TI The ICF-CY-based structural equation model of factors associated with
participation in children with autism
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Autism; children; ICF-CY; participation; structural equation model (SEM)
ID FOLLOW-UP; SPECTRUM DISORDER; FIT INDEXES; CLASSIFICATION; DISABILITIES;
ADULTS; YOUTH; ADOLESCENTS; IMPAIRMENT; ENGAGEMENT
AB Objective: The aim of this study was to apply the International Classification of Functioning, Disability and Health - Child and Youth (ICF-CY) framework to identify the factors related to the participation of children with autism.
Method: A convenience sample included 162 preschool children with autism ages 36 to 72 months. The raters collected data using the ICF-CY-based questionnaire as an instrument to construct the structural equation modeling of factors associated with participation.
Results: The internal structure of the model was acceptable, indicating that the observed variables would suffice in accounting for latent variables. The structural model showed that the performance of participation in children with autism was influenced by body functions and personal factors. All the variables accounted for 77% of the explained variance for activities and for participation by 71% of the children with autism.
Conclusion: These findings may provide critical information pertaining to predictive factors of participation for parents, educators, and professionals who work with children with autism.
C1 [Gan, Shu-Mei] Hungkuang Univ, Dept Phys Therapy, Taichung, Taiwan.
[Tung, Li-Chen] Chi Mei Med Ctr, Dept Phys Med & Rehabil, Tainan, Taiwan.
[Yeh, Chyong-Hwa] Natl Changhua Univ Educ, Dept & Grad Inst Special Educ, Changhua, Taiwan.
[Chang, Hsiao-Yun; Wang, Chun-Hou] Chung Shan Med Univ, Sch Phys Therapy, Taichung 402, Taiwan.
[Wang, Chun-Hou] Chung Shan Med Univ Hosp, Taichung, Taiwan.
RP Wang, CH (reprint author), Chung Shan Med Univ, Sch Phys Therapy, 110,Sec 1,Jianguo N Rd, Taichung 402, Taiwan.
EM chwang@csmu.edu.tw
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NR 45
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD FEB
PY 2014
VL 17
IS 1
BP 24
EP 33
DI 10.3109/17518423.2013.835357
PG 10
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA 302FZ
UT WOS:000330589100003
PM 24087923
ER
PT J
AU Marschik, PB
Bartl-Pokorny, KD
Tager-Flusberg, H
Kaufmann, WE
Pokorny, F
Grossmann, T
Windpassinger, C
Petek, E
Einspieler, C
AF Marschik, Peter B.
Bartl-Pokorny, Katrin D.
Tager-Flusberg, Helen
Kaufmann, Walter E.
Pokorny, Florian
Grossmann, Tobias
Windpassinger, Christian
Petek, Erwin
Einspieler, Christa
TI Three different profiles: Early socio-communicative capacities in
typical Rett syndrome, the preserved speech variant and normal
development
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE Communication impairment; family videos; preserved speech variant; Rett
syndrome; socio-communicative development; video analysis
ID GIRLS; AUTISM
AB Background and aims: This is the first study aiming to compare pre-diagnostic sociocommunicative development of a female with typical Rett syndrome (RTT), a female with the preserved speech variant of RTT (PSV) and a control toddler.
Methods: We analysed 1275 min of family videos at the participants' age between 9 and 24 months and used the Inventory of Potential Communicative Acts (IPCA) to delineate their repertoires of communicative forms and functions.
Results: The results revealed different profiles for the three different conditions. The repertoire of communicative gestures and (pre) linguistic vocalizations was most comprehensive in the control toddler, followed by the female with PSV and the female with RTT.
Conclusion: These findings contribute to the growing knowledge about early developmental abnormalities in RTT. In order to define distinctive profiles for typical and atypical RTT and evaluate their specificity, a larger body of evidence is needed.
C1 [Marschik, Peter B.; Bartl-Pokorny, Katrin D.; Pokorny, Florian; Einspieler, Christa] Med Univ Graz, Ctr Physiol Med, Inst Physiol, Res Unit iDN Interdisciplinary Dev Neurosci IN Sp, A-8010 Graz, Austria.
[Tager-Flusberg, Helen] Boston Univ, Dept Psychol, Boston, MA 02215 USA.
[Kaufmann, Walter E.] Boston Childrens Hosp, Boston, MA USA.
[Kaufmann, Walter E.] Harvard Univ, Sch Med, Boston, MA USA.
[Grossmann, Tobias] Max Planck Inst Human Cognit & Brain Sci, Leipzig, Germany.
[Windpassinger, Christian; Petek, Erwin] Med Univ Graz, Inst Human Genet, A-8010 Graz, Austria.
RP Marschik, PB (reprint author), Med Univ Graz, Ctr Physiol Med, Inst Physiol, Harrachgasse 21-5, A-8010 Graz, Austria.
EM peter.marschik@medunigraz.at
FU Austrian Science Fund [P25241]; COST Action [BM1004]; Lanyar Foundation
[P325, P337, P374)]; Country of Styria
FX The study was supported by the Austrian Science Fund (FWF; P25241), COST
Action BM1004, Country of Styria, and the Lanyar Foundation (P325, P337,
P374).
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NR 21
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD FEB
PY 2014
VL 17
IS 1
BP 34
EP 38
DI 10.3109/17518423.2013.837537
PG 5
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA 302FZ
UT WOS:000330589100004
PM 24088025
ER
PT J
AU Goldin, RL
Matson, JL
Beighley, JS
Jang, JN
AF Goldin, Rachel L.
Matson, Johnny L.
Beighley, Jennifer S.
Jang, Jina
TI Autism spectrum disorder severity as a predictor of Battelle
Developmental Inventory - Second Edition (BDI-2) scores in toddlers
SO DEVELOPMENTAL NEUROREHABILITATION
LA English
DT Article
DE ASD; Battelle Developmental Inventory; Second Edition (BDI-2); symptom
severity
ID INTENSIVE BEHAVIORAL INTERVENTION; INTELLECTUAL DISABILITY; INFANT
SCREEN; COMMUNICATIVE DEVELOPMENT; CHALLENGING BEHAVIORS; TRAITS
BISCUIT; YOUNG-ADULTS; PDD-NOS; CHILDREN; SKILLS
AB Objective: The study aimed to evaluate the relationship between the severity of autism spectrum disorder (ASD) symptomology and scores on the Battelle Developmental Inventory, Second Edition (BDI-2) in toddlers (n = 325).
Methods: Total scores on the BDI-2 and individual domain scores were examined to explore the relationship between severity of ASD and developmental quotient, impairment in personal-social skills, adaptive functioning, cognition, and communication.
Results: Regression analyses controlled for the impact of age and IQ on results, indicating that higher autism severity scores were associated with overall greater impairment and in the total scores and the individual domains of the BDI-2. The domains were found to be differentially affected by severity of ASD.
Conclusion: These findings suggest severity of ASD may influence symptom presentation. Clinical implications of study findings are discussed.
C1 [Goldin, Rachel L.; Matson, Johnny L.; Beighley, Jennifer S.; Jang, Jina] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
RP Goldin, RL (reprint author), Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA.
EM rgoldi3@lsu.edu
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NR 63
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI LONDON
PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND
SN 1751-8423
EI 1751-8431
J9 DEV NEUROREHABIL
JI Dev. Neurorehabil.
PD FEB
PY 2014
VL 17
IS 1
BP 39
EP 43
DI 10.3109/17518423.2013.839585
PG 5
WC Clinical Neurology; Pediatrics; Rehabilitation
SC Neurosciences & Neurology; Pediatrics; Rehabilitation
GA 302FZ
UT WOS:000330589100005
PM 24088047
ER
PT J
AU Vivanti, G
Trembath, D
Dissanayake, C
AF Vivanti, Giacomo
Trembath, David
Dissanayake, Cheryl
TI Atypical monitoring and responsiveness to goal-directed gaze in autism
spectrum disorder
SO EXPERIMENTAL BRAIN RESEARCH
LA English
DT Article
DE Autism spectrum disorders; Action prediction; Goal understanding;
Eye-tracking; Eye movements
ID PRESCHOOL-CHILDREN; JOINT ATTENTION; INTENTIONS; OTHERS; MECHANISMS;
COGNITION; ORIGINS
AB We hypothesized that difficulty in understanding the goals of others' actions in autism spectrum disorder (ASD) might be linked to a diminished attention and responsivity to relevant social cues. Using an eye-tracking paradigm, we investigated how 24 children with ASD and 24 matched children without ASD responded to the observation of uncompleted actions without a clear target (neutral condition) versus a condition in which the actor's gaze direction indicated the target of the actions (head-turning condition). Children without ASD significantly increased their attention to the actor's face and to the action's target in the head-turning condition compared to the neutral condition, while this was not the case in the ASD group. Overall, our findings suggest a diminished monitoring and responsivity to social cues signalling goal-directedness, which might impact on the ability to understand other's action goals in young children with ASD.
C1 [Vivanti, Giacomo; Trembath, David; Dissanayake, Cheryl] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Melbourne, Vic 3086, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Melbourne, Vic 3086, Australia.
[Trembath, David] Griffith Univ, Griffith Hlth Inst, Brisbane, Qld 4111, Australia.
RP Vivanti, G (reprint author), La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora Campus, Melbourne, Vic 3086, Australia.
EM g.vivanti@latrobe.edu.au
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NR 36
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0014-4819
EI 1432-1106
J9 EXP BRAIN RES
JI Exp. Brain Res.
PD FEB
PY 2014
VL 232
IS 2
BP 695
EP 701
DI 10.1007/s00221-013-3777-9
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA AA0GG
UT WOS:000330773000032
PM 24292493
ER
PT J
AU Bailey, DB
Lewis, MA
Roche, M
Powell, CM
AF Bailey, Donald B., Jr.
Lewis, Megan A.
Roche, Myra
Powell, Cynthia M.
TI Family Relations in the Genomic Era: Communicating about
Intergenerational Transmission of Risk for Disability
SO FAMILY RELATIONS
LA English
DT Article
DE disability; genetic testing; carrier; families
ID FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDERS; CYSTIC-FIBROSIS; DECISION
AID; ATAXIA-TELANGIECTASIA; GENETIC INFORMATION; ATTITUDES; CHILDREN;
CARRIERS; DEAFNESS
AB Interest in the familial aspects of disability has heightened in recent years. Three forms of disabilityhearing loss, Fragile X syndrome, and autism spectrum disordersare used here to illustrate the complex and rapidly evolving understanding of the meaning and nature of heritability and carrier status for disability. The authors raise six questions to address if the promise of genomic research leads to real benefits for families: (a) Is the public interested in carrier testing? (b) Who is responsible for carrier testing? (c) Is the public prepared to use genomic information? (d) Should genomic testing or information about testing be tailored to specific audiences or target populations? (e) What strategies can be used to enable informed decision-making? (f) How will carrier testing affect family relationships and communication patterns? These and other factors will require a comprehensive analysis of the individual and societal implications for family relations in the genomic era.
C1 [Bailey, Donald B., Jr.; Lewis, Megan A.] RTI Int, Res Triangle Pk, NC 27709 USA.
[Roche, Myra; Powell, Cynthia M.] Univ N Carolina, Dept Pediat, Chapel Hill, NC 27514 USA.
[Roche, Myra; Powell, Cynthia M.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA.
RP Bailey, DB (reprint author), RTI Int, 3040 Cornwallis Rd, Res Triangle Pk, NC 27709 USA.
EM dbailey@rti.org
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NR 104
TC 0
Z9 0
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 FEB
PY 2014
VL 63
IS 1
BP 85
EP 100
DI 10.1111/fare.12054
PG 16
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 302YU
UT WOS:000330642000007
ER
PT J
AU Wong, JD
Mailick, MR
Greenberg, JS
Hong, J
Coe, CL
AF Wong, Jen D.
Mailick, Marsha R.
Greenberg, Jan S.
Hong, Jinkuk
Coe, Christopher L.
TI Daily Work Stress and Awakening Cortisol in Mothers of Individuals with
Autism Spectrum Disorders or Fragile X Syndrome
SO FAMILY RELATIONS
LA English
DT Article
DE working mothers; work stress; health; cortisol
ID PITUITARY-ADRENAL AXIS; DEVELOPMENTAL-DISABILITIES; SALIVARY CORTISOL;
BEHAVIOR PROBLEMS; DIURNAL CORTISOL; CHILDHOOD ABUSE; JOB STRAIN;
CHILDREN; PARENTS; HEALTH
AB The effect of daily work stress on the next morning's awakening cortisol level was determined in a sample of 124 mothers (M age=49.89, SD = 6.33) of adolescents and adults with developmental disabilities and compared to 115 mothers (M age=46.19, SD = 7.08) of individuals without disabilities. Mothers participated in 8days of diary telephone interviews and provided saliva samples. Multilevel models revealed that mothers of individuals with developmental disabilities had lower awakening cortisol levels than comparison mothers. Work stress interacted with parental status to predict the awakening cortisol level on the following morning. When mothers of individuals with developmental disabilities experienced a work stressor, their awakening cortisol level was significantly higher on the subsequent morning, but for comparison mothers, work stressors were not significantly associated with cortisol level. Findings extend understanding of the differential impacts of specific types of stressors on physiological functioning of mothers of individuals with and without developmental disabilities.
C1 [Wong, Jen D.] Ohio State Univ, Dept Human Sci, Columbus, OH 43210 USA.
[Mailick, Marsha R.; Greenberg, Jan S.; Hong, Jinkuk] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA.
[Greenberg, Jan S.] Univ Wisconsin, Sch Social Work, Madison, WI 53705 USA.
[Coe, Christopher L.] Univ Wisconsin, Dept Psychol, Harlow Ctr Biol Psychol 153, Madison, WI 53715 USA.
RP Wong, JD (reprint author), Ohio State Univ, Dept Human Sci, 171-B Campbell Hall,1787 Neil Ave, Columbus, OH 43210 USA.
EM wong.606@osu.edu
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NR 51
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0197-6664
EI 1741-3729
J9 FAM RELAT
JI Fam. Relat.
PD FEB
PY 2014
VL 63
IS 1
BP 135
EP 147
DI 10.1111/fare.12055
PG 13
WC Family Studies; Social Work
SC Family Studies; Social Work
GA 302YU
UT WOS:000330642000010
ER
PT J
AU Fletcher, JM
Morris, RD
AF Fletcher, Jack M.
Morris, Robin D.
TI Reading, Laterality, and the Brain: Early Contributions on Reading
Disabilities by Sara S. Sparrow
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Reading disabilities; Laterality; Maturational lag; Sara S. Sparrow
ID DYSLEXIA; CHILDREN; INTERVENTION; ACHIEVEMENT; SKILLS
AB Although best known for work with children and adults with intellectual disabilities and autism spectrum disorders, training in speech pathology and a doctorate in clinical psychology and neuropsychology was the foundation for Sara Sparrow's long-term interest in reading disabilities. Her first papers were on dyslexia and laterality, and the maturational lag theory of developmental dyslexia proposed with Paul Satz, her mentor. The research program that emerged from this work had a wide impact on early neuropsychological models of reading disabilities. Although Sara went on to research focused on children with other developmental disabilities after she moved to Yale University, this initial research influenced her career- long interests in assessment, developmental models of disabilities, and early screening methods.
C1 [Fletcher, Jack M.] Univ Houston, Texas Med Ctr Annex, Dept Psychol, Houston, TX 77204 USA.
[Morris, Robin D.] Georgia State Univ, Dept Psychol, Atlanta, GA 30303 USA.
RP Fletcher, JM (reprint author), Univ Houston, Texas Med Ctr Annex, Dept Psychol, 2151 W Holcombe Blvd, Houston, TX 77204 USA.
EM jackfletcher@uh.edu
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NR 39
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 250
EP 255
DI 10.1007/s10803-011-1273-2
PG 6
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500002
PM 21594745
ER
PT J
AU Green, SA
Carter, AS
AF Green, Shulamite A.
Carter, Alice S.
TI Predictors and Course of Daily Living Skills Development in Toddlers
with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Daily living skills; Adaptive behavior;
Parenting stress
ID CHILDREN; BEHAVIORS; AGE; COMMUNICATION; STRESS; IQ
AB Self-sufficiency is central to child and family well-being. This report focuses on predictors of adaptive daily living skills (DLS) development in young children with ASD and whether DLS gains predict decreases in parenting stress. Participants were 162 toddlers with ASD and their parents, assessed at 3 annual timepoints. Hierarchical Linear Models showed that age, DQ, and autism symptom severity uniquely predicted initial DLS and DLS growth. Child problem behaviors predicted initial DLS only. DLS was associated with change in parenting stress above and beyond DQ, autism symptom severity, and problem behaviors. Children with lower IQ and more severe symptoms showed slower DLS gains. Given its relation to parenting stress, DLS are an important intervention target in young children with ASD.
C1 [Green, Shulamite A.] Univ Calif Los Angeles, Los Angeles, CA USA.
[Carter, Alice S.] Univ Massachusetts, Dept Psychol, Boston, MA 02125 USA.
RP Carter, AS (reprint author), Univ Massachusetts, Dept Psychol, 100 Morrissey Blvd, Boston, MA 02125 USA.
EM alice.carter@umb.edu
CR Abidin RR, 1995, PARENTING STRESS IND
Briggs-Gowan M., 2006, BRIEF INFANT TODDLER
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Sutera S, 2007, J AUTISM DEV DISORD, V37, P98, DOI 10.1007/s10803-006-0340-6
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NR 23
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 256
EP 263
DI 10.1007/s10803-011-1275-0
PG 8
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500003
PM 21598046
ER
PT J
AU Paul, R
Loomis, R
Chawarska, K
AF Paul, Rhea
Loomis, Rebecca
Chawarska, Katarzyna
TI Adaptive Behavior in Toddlers Under Two with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Adaptive behavior; Toddlers
ID HIGHER FUNCTIONING INDIVIDUALS; DOWN-SYNDROME; COMMUNICATION ABILITIES;
FOLLOW-UP; 2ND YEAR; CHILDREN; VINELAND; DISABILITIES; PROFILES;
PATTERNS
AB The Vineland Adaptive Behavior Scale was administered to 54 children diagnosed with autism spectrum disorder (ASD) before age 2, and a matching group of 18 toddlers with developmental delay (DD). The group with ASD was more impaired on all scales of the Vineland than DD peers. When 18 ASD/DD pairs very closely matched on age, verbal and nonverbal development were selected, differences were found only on Vineland Receptive Communication and Daily Living. Correlation analyses to explore connection of these areas of difference with cognition and autistic symptoms suggested that Vineland Daily Living scores were significantly correlated with nonverbal ability and with ADOS total algorithm scores. Vineland Receptive Communication scores correlated significantly only with ADOS total algorithms. The clinical implications of these findings are discussed.
C1 [Paul, Rhea; Loomis, Rebecca; Chawarska, Katarzyna] Yale Child Study Ctr, New Haven, CT 06510 USA.
RP Paul, R (reprint author), Yale Child Study Ctr, 40 Temple St 7D, New Haven, CT 06510 USA.
EM rhea.paul@yale.edu
CR American Psychiatric Association Task Force on DSM-IV, 1994, DIAGN STAT MAN MENT
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Lord C, 2006, ARCH GEN PSYCHIAT, V63, P694, DOI 10.1001/archpsyc.63.6.694
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Wetherby AM, 2007, J AUTISM DEV DISORD, V37, P960, DOI 10.1007/s10803-006-0237-4
NR 36
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 264
EP 270
DI 10.1007/s10803-011-1279-9
PG 7
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500004
PM 21573835
ER
PT J
AU Ventola, P
Saulnier, CA
Steinberg, E
Chawarska, K
Klin, A
AF Ventola, Pamela
Saulnier, Celine A.
Steinberg, Elizabeth
Chawarska, Katarzyna
Klin, Ami
TI Early-Emerging Social Adaptive Skills in Toddlers with Autism Spectrum
Disorders: An Item Analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Adaptive behavior; Vineland Adaptive Behavior Scales; Item
analysis; Early emerging social skills; Toddler social development
ID HIGHER FUNCTIONING INDIVIDUALS; PERVASIVE DEVELOPMENTAL DISORDERS;
BEHAVIOR SCALES; COMMUNICATION ABILITIES; LISTENING PREFERENCES;
COGNITIVE-ABILITIES; ASPERGER-SYNDROME; ADI-R; CHILDREN; VINELAND
AB Individuals with ASD have significant impairments in adaptive skills, particularly adaptive socialization skills. The present study examined the extent to which 20 items from the Vineland Adaptive Behavior Scales-Socialization Domain differentiated between ASD and developmentally delayed (DD) groups. Participants included 108 toddlers with ASD or DD under the age of 3 years. Nine of the 20 items significantly distinguished the groups. The ASD group demonstrated significantly weaker socialization skills, including deficits in basic social behaviors. The results support the notion that (a) socialization deficits in ASD impact foundational social skills typically emerging in the first year of life, (b) examination of specific social adaptive behaviors contribute to differential diagnosis, and (c) foundational social behaviors should be targeted for intervention.
C1 [Ventola, Pamela; Saulnier, Celine A.; Steinberg, Elizabeth; Chawarska, Katarzyna; Klin, Ami] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06520 USA.
RP Ventola, P (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, 230 South Frontage Rd,POB 207900, New Haven, CT 06520 USA.
EM pamela.ventola@yale.edu
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NR 52
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 283
EP 293
DI 10.1007/s10803-011-1278-x
PG 11
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500006
PM 21567256
ER
PT J
AU Dykens, EM
AF Dykens, Elisabeth M.
TI Leisure Activities in Prader-Wlli Syndrome: Implications for Health,
Cognition and Adaptive Functioning
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Prader-Willi syndrome; Adaptive behavior; Recreation; Obesity; Cognition
ID AUTISM SPECTRUM DISORDERS; WILLI-SYNDROME; GENETIC SUBTYPES; COMPULSIVE
BEHAVIOR; PHYSICAL-ACTIVITY; JIGSAW PUZZLE; PEOPLE; CHILDREN;
TELEVISION; EXERCISE
AB Although hyperphagia and compulsivity in Prader-Willi syndrome (PWS) are well described, recreation and adaptive skills are relatively unexplored. Parents of 123 participants with PWS (4-48 years) completed measures of their child's adaptive, recreation, and problem behaviors. Offspring received cognitive testing. Watching TV was the most frequent recreational activity, and was associated with compulsivity and skin picking. BMIs were negatively correlated with physical play, and highest in those who watched TV and played computer games. Computer games and physical activities were associated with higher IQ and adaptive scores. People with PWS and other disabilities need to watch less TV and be more engaged in physical activities, games, and leisure pursuits that are fun, and may bring cognitive or adaptive advantages.
C1 [Dykens, Elisabeth M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Dept Psychol & Human Dev, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Dept Pediat, Nashville, TN 37203 USA.
[Dykens, Elisabeth M.] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Dept Psychiat, Nashville, TN 37203 USA.
RP Dykens, EM (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, Dept Psychol & Human Dev, 230 Appleton Pl,Peabody Box 40, Nashville, TN 37203 USA.
EM Elisabeth.dykens@vanderbilt.edu
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NR 41
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 294
EP 302
DI 10.1007/s10803-012-1462-7
PG 9
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500007
PM 22484792
ER
PT J
AU Cicchetti, DV
AF Cicchetti, Domenic V.
TI On Scales of Measurement in Autism Spectrum Disorders (ASD) and Beyond:
Where Smitty Went Wrong
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Scales; Measurement; ASD
ID INTRACLASS CORRELATION COEFFICIENT; DISCRIMINATING POWER; WEIGHTED
KAPPA; RATING-SCALES; RELIABILITY; AGREEMENT; CATEGORIES; NUMBER
AB The author examined critically three beliefs of S.S. Stevens pertaining to his quadripartite system of scales of measurement: (1) There are four scales of measurement in common usage (2) These scales and the scientific disciplines that use them can be incrementally graded for levels of reliability and validity or accuracy such that: Nominal scale variables produce the lowest levels of reliability and accuracy; with successively improving levels for Ordinal, Equal Interval, and Equal Ratio scales; and (3) The scale upon which a variable is measured determines the type of statistical test that one is permitted to apply. It was shown that each of the three beliefs is fundamentally flawed.
C1 [Cicchetti, Domenic V.] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06511 USA.
[Cicchetti, Domenic V.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06511 USA.
[Cicchetti, Domenic V.] Yale Univ, Sch Med, New Haven, CT 06511 USA.
[Cicchetti, Domenic V.] Yale Home Off, North Branford, CT 06471 USA.
RP Cicchetti, DV (reprint author), Yale Home Off, 94 Linsley Lake Rd, North Branford, CT 06471 USA.
EM dom.cicchetti@yale.edu
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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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 303
EP 309
DI 10.1007/s10803-012-1486-z
PG 7
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500008
PM 22359180
ER
PT J
AU van Rijn, S
Stockmann, L
Borghgraef, M
Bruining, H
van Ravenswaaij-Arts, C
Govaerts, L
Hansson, K
Swaab, H
AF van Rijn, Sophie
Stockmann, Lex
Borghgraef, Martine
Bruining, Hilgo
van Ravenswaaij-Arts, Conny
Govaerts, Lutgarde
Hansson, Kerstin
Swaab, Hanna
TI The Social Behavioral Phenotype in Boys and Girls with an Extra X
Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with
Autism Spectrum Disorder
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Klinefelter; Trisomy X; Autism; Social functioning; X chromosome; Sex
chromosomal aneuploidies
ID OF-THE-LITERATURE; CHILDREN; ABNORMALITIES; TRAITS; ADULTS; 47,XXY; XYY;
MEN; XXY
AB The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome.
C1 [van Rijn, Sophie; Stockmann, Lex; Swaab, Hanna] Leiden Univ, NL-2333 AK Leiden, Netherlands.
[van Rijn, Sophie; Swaab, Hanna] Leiden Inst Brain & Cognit, NL-2300 RC Leiden, Netherlands.
[Stockmann, Lex] Autism Ctr Rivierduinen, NL-2333 ZZ Leiden, Netherlands.
[Borghgraef, Martine] Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium.
[Bruining, Hilgo] Univ Utrecht, Univ Med Ctr Utrecht, Dept Psychiat, NL-3584 CX Utrecht, Netherlands.
[van Ravenswaaij-Arts, Conny] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands.
[Govaerts, Lutgarde] Erasmus MC, Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands.
[Hansson, Kerstin] Leiden Univ, Med Ctr, Dept Clin Genet, LDGA, NL-2300 RC Leiden, Netherlands.
RP van Rijn, S (reprint author), Leiden Univ, Wassenaarseweg 52, NL-2333 AK Leiden, Netherlands.
EM srijn@fsw.leidenuniv.nl
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NR 38
TC 4
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 310
EP 320
DI 10.1007/s10803-013-1860-5
PG 11
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500009
PM 23824705
ER
PT J
AU Tsai, LY
Ghaziuddin, M
AF Tsai, Luke Y.
Ghaziuddin, Mohammad
TI DSM-5 ASD Moves Forward into the Past
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE DSM-5; Autism spectrum disorder; Autistic disorder; Asperger's disorder;
Pervasive developmental disorder not otherwise specified
ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDER; EARLY
INFANTILE-AUTISM; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; PDD-NOS;
INTELLECTUAL DISABILITY; CHILDHOOD SCHIZOPHRENIA; CHALLENGING BEHAVIORS;
YOUNG-CHILDREN
AB The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) (APA in diagnostic and statistical manual of mental disorders, Author, Washington, 2013) has decided to merge the subtypes of pervasive developmental disorders into a single category of autism spectrum disorder (ASD) on the assumption that they cannot be reliably differentiated from one another. The purpose of this review is to analyze the basis of this assumption by examining the comparative studies between Asperger's disorder (AsD) and autistic disorder (AD), and between pervasive developmental disorder not otherwise specified (PDDNOS) and AD. In all, 125 studies compared AsD with AD. Of these, 30 studies concluded that AsD and AD were similar conditions while 95 studies found quantitative and qualitative differences between them. Likewise, 37 studies compared PDDNOS with AD. Nine of these concluded that PDDNOS did not differ significantly from AD while 28 reported quantitative and qualitative differences between them. Taken together, these findings do not support the conceptualization of AD, AsD and PDDNOS as a single category of ASD. Irrespective of the changes proposed by the DSM-5, future research and clinical practice will continue to find ways to meaningfully subtype the ASD.
C1 [Tsai, Luke Y.; Ghaziuddin, Mohammad] Univ Michigan, Sch Med, Dept Psychiat, Ann Arbor, MI 48105 USA.
RP Tsai, LY (reprint author), Univ Michigan, Sch Med, Dept Psychiat, 2385 Placid Way, Ann Arbor, MI 48105 USA.
EM lyctsai@umich.edu
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World Health Organization, 2012, ICD 11 BETA IN PRESS
NR 109
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 321
EP 330
DI 10.1007/s10803-013-1870-3
PG 10
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500010
PM 23807202
ER
PT J
AU Semrud-Clikeman, M
Fine, JG
Bledsoe, J
AF Semrud-Clikeman, Margaret
Fine, Jodene Goldenring
Bledsoe, Jesse
TI Comparison Among Children with Children with Autism Spectrum Disorder,
Nonverbal Learning Disorder and Typically Developing Children on
Measures of Executive Functioning
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE High functioning autism; Nonverbal learning disability; Executive
function; Visual sequencing; Cognitive flexibility
ID DEFICIT HYPERACTIVITY DISORDER; SOCIAL-PERCEPTION MEASURE;
ASPERGER-SYNDROME; ATTENTION; PERFORMANCE; DYSFUNCTION; COMMUNICATION;
DISABILITIES; INDIVIDUALS
AB It has been suggested that children with nonverbal learning disabilities (NLD) or Asperger's Syndrome (AS) may show difficulties with executive functioning. There were 3 groups in this study who completed a neuropsychological battery of visual-spatial, executive functioning, and reasoning tasks; AS (n = 37), NLD (n = 31), and controls (n = 40). Results indicated that children in both clinical groups scored within average limits on measures of spatial reasoning and verbal ability. Fluid reasoning was also found to be within average ranges for all groups. The AS group experienced significant problems with cognitive flexibility compared to the other two groups. In contrast the NLD group showed fewer difficulties with cognitive flexibility but more problems with visual sequencing. These findings suggest that performance on executive function measures for children with AS or NLD is remarkably similar with subtle differences present.
C1 [Semrud-Clikeman, Margaret] Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA.
[Fine, Jodene Goldenring] Michigan State Univ, Dept Counseling Sch Psychol & Special Educ, E Lansing, MI 48824 USA.
[Fine, Jodene Goldenring; Bledsoe, Jesse] Michigan State Univ, E Lansing, MI 48824 USA.
[Bledsoe, Jesse] Seattle Childrens Hosp, Dept Psychiat & Behav Med, Seattle, DC USA.
RP Semrud-Clikeman, M (reprint author), Univ Minnesota, Sch Med, Dept Pediat, 516 Delaware St SE, Minneapolis, MN 55455 USA.
EM semru002@umn.edu
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NR 52
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 331
EP 342
DI 10.1007/s10803-013-1871-2
PG 12
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500011
PM 23812759
ER
PT J
AU Sperduti, M
Pieron, M
Leboyer, M
Zalla, T
AF Sperduti, Marco
Pieron, Marie
Leboyer, Marion
Zalla, Tiziana
TI Altered Pre-reflective Sense of Agency in Autism Spectrum Disorders as
Revealed by Reduced Intentional Binding
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Sense of agency; Intentional binding; Self;
Predictive mechanisms
ID HIGH-FUNCTIONING AUTISM; MOVEMENT-RELATED POTENTIALS; ASPERGER-SYNDROME;
TEMPORAL BINDING; DIAGNOSTIC INTERVIEW; TIME PERCEPTION; MOTOR CONTROL;
CHILDREN; DEFICIT; INTEGRATION
AB Autism spectrum disorders (ASDs) are neurodevelopmental conditions that severely affect social interaction, communication and several behavioural and cognitive functions, such as planning and monitoring motor actions. A renewed interest in intrapersonal cognition has recently emerged suggesting a putative dissociation between impaired declarative processes, such as autobiographical memory, and spared implicit processes, such as the sense of agency (SoA) in ASDs. However, so far only a few studies have investigated the integrity of SoA using tasks exclusively tapping reflective mechanisms. Since pre-reflective processes of SoA are based on the same predictive internal models that are involved in planning and monitoring actions, we hypothesized that pre-reflective aspects of SoA, as measured by the intentional binding effect, would be altered in adults with high functioning autism spectrum disorders, relative to volunteers with typical development. Here, in accordance with our hypothesis, we report reduced IB in participants with ASDs.
C1 [Sperduti, Marco] Univ Paris 05, Lab Memory & Cognit, Paris, France.
[Sperduti, Marco] Ctr Psychiat & Neurosci, INSERM, U894, F-75014 Paris, France.
[Pieron, Marie; Zalla, Tiziana] Ecole Normale Super, CNRS, Inst Jean Nicod, F-75005 Paris, France.
[Leboyer, Marion] French Natl Sci Fdn, Fdn FondaMental, INSERM, Dept Psychiat,U955,IMRB, Creteil, France.
[Leboyer, Marion] Univ Paris Est Creteil, Henri Mondor Albert Chenevier Hosp, AP HP, Creteil, France.
RP Sperduti, M (reprint author), Ctr Psychiat & Neurosci, INSERM, U894, 2 Ter Rue Alesia, F-75014 Paris, France.
EM marcosperduti@yahoo.it; tiziana.zalla@ens.fr
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NR 96
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 343
EP 352
DI 10.1007/s10803-013-1891-y
PG 10
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500012
PM 23881092
ER
PT J
AU Estes, A
Vismara, L
Mercado, C
Fitzpatrick, A
Elder, L
Greenson, J
Lord, C
Munson, J
Winter, J
Young, G
Dawson, G
Rogers, S
AF Estes, Annette
Vismara, Laurie
Mercado, Carla
Fitzpatrick, Annette
Elder, Lauren
Greenson, Jessica
Lord, Catherine
Munson, Jeffrey
Winter, Jamie
Young, Gregory
Dawson, Geraldine
Rogers, Sally
TI The Impact of Parent-Delivered Intervention on Parents of Very Young
Children with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Early intervention; Parent; Stress; Autism spectrum disorder; Early
Start Denver Model
ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; PRESCHOOL-CHILDREN;
INTELLECTUAL DISABILITY; SYNDROME SPECIFICITY; BEHAVIOR PROBLEMS;
SELF-EFFICACY; MENTAL-HEALTH; DOWN-SYNDROME; MOTHERS
AB This study investigated the impact of a parent-coaching intervention based on the Early Start Denver Model (P-ESDM) on parenting-related stress and sense of competence. This was part of a multisite, randomized trial comparing P-ESDM (n = 49) with community intervention (n = 49) for children aged 12 and 24 months. The P-ESDM group reported no increase in parenting stress, whereas the Community group experienced an increase over the same 3-month period. Parental sense of competence did not differ. Number of negative life events was a significant predictor of parenting stress and sense of competence across both groups. This suggests that a parent-coaching intervention may help maintain parental adjustment directly after a child is diagnosed with ASD.
C1 [Estes, Annette; Greenson, Jessica; Winter, Jamie] Univ Washington, UW Autism Ctr, Dept Speech & Hearing Sci, Seattle, WA 98195 USA.
[Estes, Annette; Elder, Lauren] Univ Washington, Dept Psychol, Seattle, WA 98195 USA.
[Vismara, Laurie; Young, Gregory; Rogers, Sally] Univ Calif Davis, Dept Psychiat, Sacramento, CA 95817 USA.
[Mercado, Carla; Fitzpatrick, Annette] Univ Washington, Dept Biostat, Seattle, WA 98195 USA.
[Lord, Catherine] Univ Michigan, Dept Psychol, Ann Arbor, MI USA.
[Lord, Catherine] Columbia Univ, Med Ctr, New York, NY USA.
[Munson, Jeffrey] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA.
[Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
RP Estes, A (reprint author), Univ Washington, UW Autism Ctr, Dept Speech & Hearing Sci, Box 357920, Seattle, WA 98195 USA.
EM estesa@u.washington.edu
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NR 57
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 353
EP 365
DI 10.1007/s10803-013-1874-z
PG 13
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500013
PM 23838727
ER
PT J
AU Boyd, BA
Hume, K
McBee, MT
Alessandri, M
Gutierrez, A
Johnson, L
Sperry, L
Odom, SL
AF Boyd, Brian A.
Hume, Kara
McBee, Matthew T.
Alessandri, Michael
Gutierrez, Anibal
Johnson, LeAnne
Sperry, Laurie
Odom, Samuel L.
TI Comparative Efficacy of LEAP, TEACCH and Non-Model-Specific Special
Education Programs for Preschoolers with Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Comparative effectiveness; Comprehensive treatments; Efficacy;
Intervention; LEAP; TEACCH
ID COMPREHENSIVE TREATMENT MODELS; INTENSIVE BEHAVIORAL TREATMENT;
YOUNG-CHILDREN; EARLY INTERVENTION; CONTROLLED-TRIAL; TODDLERS;
OUTCOMES; SCHOOL; COMMITMENT; PHILOSOPHY
AB LEAP and TEACCH represent two comprehensive treatment models (CTMs) that have been widely used across several decades to educate young children with autism spectrum disorders. The purpose of this quasi-experimental study was to compare high fidelity LEAP (n = 22) and TEACCH (n = 25) classrooms to each other and a control condition (n = 28), in which teachers in high quality special education programs used non-model-specific practices. A total of 198 children were included in data analysis. Across conditions, children's performances improved over time. This study raises issues of the replication of effects for CTMs, and whether having access to a high quality special education program is as beneficial as access to a specific CTM.
C1 [Boyd, Brian A.] Univ N Carolina, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC 27599 USA.
[Hume, Kara] Univ N Carolina, FPG Child Dev Inst, Chapel Hill, NC 27599 USA.
[McBee, Matthew T.] E Tennessee State Univ, Johnson City, TN 37614 USA.
[Alessandri, Michael] Univ Miami, Ctr Autism & Related Disabil, Coral Gables, FL 33124 USA.
[Alessandri, Michael] Univ Miami, Dept Psychol & Pediat, Coral Gables, FL 33124 USA.
[Gutierrez, Anibal] Florida Int Univ, Dept Psychol, University Pk, FL USA.
[Johnson, LeAnne] Univ Minnesota, Special Educ Programs, Minneapolis, MN USA.
[Sperry, Laurie] Griffith Univ, Sch Arts Educ & Law, Autism Ctr Excellence, Brisbane, Qld 4111, Australia.
[Odom, Samuel L.] Univ N Carolina, FGP Child Dev Ctr, Chapel Hill, NC 27599 USA.
[Odom, Samuel L.] Univ N Carolina, Sch Educ, Chapel Hill, NC 27599 USA.
RP Boyd, BA (reprint author), Univ N Carolina, Div Occupat Sci & Occupat Therapy, 2050 Bondurant Hall, Chapel Hill, NC 27599 USA.
EM brian_boyd@med.unc.edu; kara.hume@unc.edu; mcbeem@etsu.edu;
malessandri@psy.miami.edu; anibal.guiterrez@fiu.edu; chaf0032@umn.edu;
l.sperry@griffith.edu.au; slodom@unc.edu
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NR 59
TC 7
Z9 7
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 366
EP 380
DI 10.1007/s10803-013-1877-9
PG 15
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500014
PM 23812661
ER
PT J
AU del Rosario, M
Gillespie-Lynch, K
Johnson, S
Sigman, M
Hutman, T
AF del Rosario, Mithi
Gillespie-Lynch, Kristen
Johnson, Scott
Sigman, Marian
Hutman, Ted
TI Parent-Reported Temperament Trajectories Among Infant Siblings of
Children with Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Temperament; Autism; Parent perception; Infants; Toddlers
ID SPECTRUM DISORDERS; TODDLER TEMPERAMENT; HIGH-RISK; 1ST YEAR; AGE;
COMMUNICATION; PERSONALITY; STABILITY; LIFE; OLD
AB Temperament atypicalities have been documented in infancy and early development in children who develop autism spectrum disorders (ASD). The current study investigates whether there are differences in developmental trajectories of temperament between infants and toddlers with and without ASD. Parents of infant siblings of children with autism completed the Carey Temperament Scales about their child at 6, 12, 18, 24, and 36 months of age. Temperament trajectories of children with ASD reflected increases over time in activity level, and decreasing adaptability and approach behaviors relative to high-risk typically developing (TD) children. This study is the first to compare temperament trajectories between high-risk TD infants and infants subsequently diagnosed with ASD in the developmental window when overt symptoms of ASD first emerge.
C1 [del Rosario, Mithi; Johnson, Scott; Sigman, Marian; Hutman, Ted] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA.
[Gillespie-Lynch, Kristen] CUNY Coll Staten Isl, Dept Psychol, Staten Isl, NY USA.
[Gillespie-Lynch, Kristen; Johnson, Scott] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA.
[Hutman, Ted] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Los Angeles, CA 90095 USA.
RP Hutman, T (reprint author), Univ Calif Los Angeles, Ctr Autism Res & Treatment, 760 Westwood Plaza,Suite 68-237, Los Angeles, CA 90095 USA.
EM thutman@mednet.ucla.edu
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NR 60
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 381
EP 393
DI 10.1007/s10803-013-1876-x
PG 13
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500015
PM 23820765
ER
PT J
AU Lauritsen, MB
Astrup, A
Pedersen, CB
Obel, C
Schendel, DE
Schieve, L
Yeargin-Allsopp, M
Parner, ET
AF Lauritsen, Marlene B.
Astrup, Aske
Pedersen, Carsten Bocker
Obel, Carsten
Schendel, Diana E.
Schieve, Laura
Yeargin-Allsopp, Marshalyn
Parner, Erik T.
TI Urbanicity and Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Risk; Urbanicity; Movement; Diagnosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; RISK-FACTORS; COMPREHENSIVE
METAANALYSIS; SOCIOECONOMIC-STATUS; FAMILY-HISTORY; BIRTH COHORTS;
PREVALENCE; DIAGNOSIS; AGE; SCHIZOPHRENIA
AB The etiology of autism spectrum disorders (ASD) is for the majority of cases unknown and more studies of risk factors are needed. Geographic variation in ASD occurrence has been observed, and urban residence has been suggested to serve as a proxy for etiologic and identification factors in ASD. We examined the association between urbanicity level and ASD at birth and during childhood. The study used a Danish register-based cohort of more than 800,000 children of which nearly 4,000 children were diagnosed with ASD. We found a dose-response association with greater level of urbanicity and risk of ASD. This association was found for residence at birth as well as residence during childhood. Further, we found an increased risk of ASD in children who moved to a higher level of urbanicity after birth. Also, earlier age of ASD diagnosis in urban areas was observed. While we could not directly examine the specific reasons behind these associations, our results demonstrating particularly strong associations between ASD diagnosis and post-birth migration suggest the influence of identification-related factors such as access to services might have a substantive role on the ASD differentials we observed.
C1 [Lauritsen, Marlene B.] Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, DK-9000 Aalborg, Denmark.
[Lauritsen, Marlene B.] Aarhus Univ Hosp, Reg Ctr Child & Adolescent Psychiat, DK-8000 Aarhus, Denmark.
[Astrup, Aske; Parner, Erik T.] Univ Aarhus, Dept Publ Hlth, Sect Biostat, Aarhus, Denmark.
[Pedersen, Carsten Bocker] Univ Aarhus, Natl Ctr Register Based Res, Fac Social Sci, Aarhus, Denmark.
[Obel, Carsten] Univ Aarhus, Dept Gen Practice, Aarhus, Denmark.
[Schendel, Diana E.; Schieve, Laura; Yeargin-Allsopp, Marshalyn] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA.
RP Lauritsen, MB (reprint author), Aalborg Univ Hosp, Res Unit Child & Adolescent Psychiat, Mollepk Vej 10, DK-9000 Aalborg, Denmark.
EM marlene.lauritsen@rn.dk
RI Pedersen, Carsten Bocker/B-8441-2013
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NR 55
TC 3
Z9 3
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 394
EP 404
DI 10.1007/s10803-013-1875-y
PG 11
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500016
PM 23807204
ER
PT J
AU Koh, HC
Lim, SH
Chan, GJ
Lin, MB
Lim, HH
Choo, SHT
Magiati, I
AF Koh, Hwan Cui
Lim, Si Huan
Chan, Gifford Jiguang
Lin, Marisa Bilin
Lim, Hong Huay
Choo, Sylvia Henn Tean
Magiati, Iliana
TI The Clinical Utility of the Modified Checklist for Autism in Toddlers
with High Risk 18-48 Month Old Children in Singapore
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Screening; Early identification; M-CHAT;
Level 2 screening; High risk children
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS
AB The modified checklist for autism in toddlers (M-CHAT) is a tool developed for 16-30 month old children to screen for autism spectrum disorders (ASD). It is a well-researched tool, but little is known about its utility with Singaporean toddlers and with older children referred for developmental concerns. This study investigated the M-CHAT's performance with 18-30 month old (N = 173) and > 30-48 month old (N = 407) developmentally at-risk Singaporean children, when used with three recommended scoring methods i.e., the total, critical and Best7 scoring methods. The results indicate that the critical and Best7 scoring methods detected most true cases of ASD without inflating the false positive rates in toddlers, and that only the total scoring method performed acceptably for the older children.
C1 [Koh, Hwan Cui; Lim, Si Huan; Choo, Sylvia Henn Tean] KK Womens & Childrens Hosp, Dept Child Dev, Singapore 229899, Singapore.
[Lim, Si Huan; Chan, Gifford Jiguang; Lin, Marisa Bilin; Magiati, Iliana] Natl Univ Singapore, Dept Psychol, Singapore 117548, Singapore.
RP Koh, HC (reprint author), KK Womens & Childrens Hosp, Dept Child Dev, Womens Tower Level 5,100 Bukit Timah Rd, Singapore 229899, Singapore.
EM koh.hwan.cui@kkh.com.sg
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NR 29
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 405
EP 416
DI 10.1007/s10803-013-1880-1
PG 12
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500017
PM 23812662
ER
PT J
AU Stichter, JP
Laffey, J
Galyen, K
Herzog, M
AF Stichter, Janine P.
Laffey, James
Galyen, Krista
Herzog, Melissa
TI iSocial: Delivering the Social Competence Intervention for Adolescents
(SCI-A) in a 3D Virtual Learning Environment for Youth with High
Functioning Autism
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE 3D virtual learning environments; High functioning autism; Social
competence; Distance education
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; TREATMENT
FIDELITY; WORLDS; CHILDREN; BEHAVIOR; ENGAGEMENT; EDUCATION; STUDENTS;
OUTCOMES
AB One consistent area of need for students with autism spectrum disorders is in the area of social competence. However, the increasing need to provide qualified teachers to deliver evidence-based practices in areas like social competence leave schools, such as those found in rural areas, in need of support. Distance education and in particular, 3D Virtual Learning, holds great promise for supporting schools and youth to gain social competence through knowledge and social practice in context. iSocial, a distance education, 3D virtual learning environment implemented the 31-lesson social competence intervention for adolescents across three small cohorts totaling 11 students over a period of 4 months. Results demonstrated that the social competence curriculum was delivered with fidelity in the 3D virtual learning environment. Moreover, learning outcomes suggest that the iSocial approach shows promise for social competence benefits for youth.
C1 [Stichter, Janine P.; Laffey, James; Galyen, Krista; Herzog, Melissa] Univ Missouri, Columbia, MO 65211 USA.
RP Stichter, JP (reprint author), Univ Missouri, Columbia, MO 65211 USA.
EM Stichterj@missouri.edu
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NR 79
TC 2
Z9 2
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 417
EP 430
DI 10.1007/s10803-013-1881-0
PG 14
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500018
PM 23812663
ER
PT J
AU Campbell, DJ
Shic, F
Macari, S
Chawarska, K
AF Campbell, Daniel J.
Shic, Frederick
Macari, Suzanne
Chawarska, Katarzyna
TI Gaze Response to Dyadic Bids at 2 Years Related to Outcomes at 3 Years
in Autism Spectrum Disorders: A Subtyping Analysis
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Eye-tracking; Visual attention; Heterogeneity; Eye contact;
Child-directed speech
ID INTERMODAL PERCEPTION; LANGUAGE-DEVELOPMENT; SPEECH-PERCEPTION;
EYE-MOVEMENT; INFANTS; TODDLERS; ATTENTION; CHILDREN; FACE; PREDICTORS
AB Variability in attention towards direct gaze and child-directed speech may contribute to heterogeneity of clinical presentation in toddlers with autism spectrum disorders (ASD). To evaluate this hypothesis, we clustered sixty-five 20-month-old toddlers with ASD based on their visual responses to dyadic cues for engagement, identifying three subgroups. Subsequently, we compared social, language, and adaptive functioning of these subgroups at 3 years of age. The cluster displaying limited attention to social scenes in general exhibited poor outcome at 3 years; the cluster displaying good attention to the scene and to the speaker's mouth was verbal and high functioning at 3 years. Analysis of visual responses to dyadic cues may provide a clinically meaningful approach to identifying early predictors of outcome.
C1 [Campbell, Daniel J.; Shic, Frederick; Macari, Suzanne; Chawarska, Katarzyna] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT 06510 USA.
RP Chawarska, K (reprint author), Yale Univ, Sch Med, Yale Child Study Ctr, 40 Temple St,Suite 7D, New Haven, CT 06510 USA.
EM Katarzyna.Chawarska@yale.edu
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NR 61
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 431
EP 442
DI 10.1007/s10803-013-1885-9
PG 12
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500019
PM 23877749
ER
PT J
AU Hessels, RS
Hooge, ITC
Snijders, TM
Kemner, C
AF Hessels, Roy S.
Hooge, Ignace T. C.
Snijders, Tineke M.
Kemner, Chantal
TI Is There a Limit to the Superiority of Individuals with ASD in Visual
Search?
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorder; Visual search; Superiority; Perceptual load;
Load theory
ID AUTISM SPECTRUM DISORDER; SELECTIVE ATTENTION; PERCEPTUAL LOAD; ADULTS
AB Superiority in visual search for individuals diagnosed with autism spectrum disorder (ASD) is a well-reported finding. We administered two visual search tasks to individuals with ASD and matched controls. One showed no difference between the groups, and one did show the expected superior performance for individuals with ASD. These results offer an explanation, formulated in terms of load theory. We suggest that there is a limit to the superiority in visual search for individuals with ASD, related to the perceptual load of the stimuli. When perceptual load becomes so high that no additional task-(ir)relevant information can be processed, performance will be based on single stimulus identification, in which no differences between individuals with ASD and controls have been demonstrated.
C1 [Hessels, Roy S.; Hooge, Ignace T. C.; Snijders, Tineke M.; Kemner, Chantal] Univ Utrecht, Dept Expt Psychol, Helmholtz Inst, Utrecht, Netherlands.
[Hessels, Roy S.; Snijders, Tineke M.; Kemner, Chantal] Univ Utrecht, Dept Dev Psychol, Utrecht, Netherlands.
[Snijders, Tineke M.; Kemner, Chantal] Univ Med Ctr, Brain Ctr Rudolf Magnus, Dept Psychiat, NL-3584 CX Utrecht, Netherlands.
[Snijders, Tineke M.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 ED Nijmegen, Netherlands.
RP Hessels, RS (reprint author), Heidelberglaan 2, NL-3584 CS Utrecht, Netherlands.
EM royhessels@gmail.com
RI Snijders, Tineke/A-3431-2013
OI Snijders, Tineke/0000-0002-2442-0451
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NR 31
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 443
EP 451
DI 10.1007/s10803-013-1886-8
PG 9
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500020
PM 23838729
ER
PT J
AU Mulligan, CK
Trauner, DA
AF Mulligan, Caitlin K.
Trauner, Doris A.
TI Incidence and Behavioral Correlates of Epileptiform Abnormalities in
Autism Spectrum Disorders
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; ASD; Epilepsy; EEG; Behavior
ID LANDAU-KLEFFNER-SYNDROME; EEG ABNORMALITIES; EPILEPSY; REGRESSION;
CHILDREN; SEIZURES; SLEEP; ADOLESCENTS
AB Autism spectrum disorders (ASD) are associated with an increased incidence of epilepsy and of epileptiform discharges on electroencephalograms. It is unknown whether epileptiform discharges correlate with symptoms of ASD. We completed a retrospective chart review of 101 patients with ASD who had overnight electroencephalograms. We looked for a relationship between epileptiform abnormalities and diagnosis, history of regression, communication skills, and other features associated with ASD. There was a higher incidence of epileptiform activity in children with stereotypies and aggressive behavior. The incidence of epileptiform abnormalities was significantly lower in Asperger's compared with more severe forms of autism. Results suggest that increasing severity of autistic symptoms may be associated with higher likelihood of epileptiform abnormalities. Whether treatment alters outcome is unknown.
C1 [Mulligan, Caitlin K.; Trauner, Doris A.] Univ Calif San Diego, Sch Med, Dept Neurosci, San Diego, CA 92093 USA.
[Trauner, Doris A.] Univ Calif San Diego, Sch Med, Dept Pediat, San Diego, CA 92093 USA.
[Trauner, Doris A.] Rady Childrens Hosp San Diego, San Diego, CA USA.
RP Trauner, DA (reprint author), Univ Calif San Diego, Sch Med, Dept Neurosci, 9500 Gilman Dr,MC 0935, San Diego, CA 92093 USA.
EM dtrauner@ucsd.edu
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NR 27
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 452
EP 458
DI 10.1007/s10803-013-1888-6
PG 7
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500021
PM 23872941
ER
PT J
AU Rossi, CC
Fuentes, J
Van de Water, J
Amaral, DG
AF Rossi, Christy C.
Fuentes, Joaquin
Van de Water, Judy
Amaral, David G.
TI Brief Report: Antibodies Reacting to Brain Tissue in Basque Spanish
Children with Autism Spectrum Disorder and Their Mothers
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism spectrum disorders; Autoantibody; Brain; International
ID FETAL-BRAIN; PLASMA AUTOANTIBODIES; ANTIBRAIN ANTIBODIES; PREVALENCE;
ACTIVATION; PROTEINS; SERUM
AB Previous investigations found that a subset of children with autism spectrum disorder (ASD) in California possessed plasma autoantibodies that reacted intensely with brain interneurons or other neural profiles. Moreover, for several cohorts of American women, maternal autoantibody reactivity to specific fetal brain proteins was highly specific to mothers of children with ASD. We sought to determine whether children and their mothers from a regionally specific cohort from the Basque Country of Spain demonstrated similar reactivity. Some children's plasma reacted to interneurons, beaded axons or other neural profiles with no difference in the occurrence of these antibodies in children with or without ASD. Findings on the maternal antibodies confirmed previous research; plasma reactivity to fetal brain a combination of proteins at 37 and 73 kDa or 39 and 73 kDa was found exclusively in mothers of children with ASD.
C1 [Rossi, Christy C.; Amaral, David G.] Univ Calif Davis, Dept Psychiat & Behav Sci, Sacramento, CA 95817 USA.
[Rossi, Christy C.; Van de Water, Judy; Amaral, David G.] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA.
[Rossi, Christy C.] Univ Denver, Dept Psychol, Denver, CO 80208 USA.
[Fuentes, Joaquin] Policlin Guipuzkoa, Child & Adolescent Psychiat Unit, Donostia San Sebastian, Spain.
[Fuentes, Joaquin] Gautena Autism Soc, Donostia San Sebastian, Spain.
[Van de Water, Judy] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Sacramento, CA 95817 USA.
[Van de Water, Judy] Univ Calif Davis, NIEHS Ctr Childrens Environm Hlth, Sacramento, CA 95817 USA.
[Amaral, David G.] Univ Calif Davis, Ctr Neurosci, Sacramento, CA 95817 USA.
[Amaral, David G.] Univ Calif Davis, Calif Natl Primate Res Ctr, Sacramento, CA 95817 USA.
RP Amaral, DG (reprint author), Univ Calif Davis, MIND Inst, 2825 50th St, Sacramento, CA 95817 USA.
EM dgamaral@ucdavis.edu
CR Autism and Developmental Disabilities Monitoring Network (ADDM), 2012, MMWR SURVEILL SUMM, V61, P1
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Zimmerman AW, 2007, BRAIN BEHAV IMMUN, V21, P351, DOI 10.1016/j.bbi.2006.08.005
NR 29
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 459
EP 465
DI 10.1007/s10803-013-1859-y
PG 7
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500022
ER
PT J
AU Reszka, SS
Boyd, BA
McBee, M
Hume, KA
Odom, SL
AF Reszka, Stephanie S.
Boyd, Brian A.
McBee, Matthew
Hume, Kara A.
Odom, Samuel L.
TI Brief Report: Concurrent Validity of Autism Symptom Severity Measures
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Concurrent validity; Autism; Severity; Diagnostic classification
AB The autism spectrum disorder (ASD) diagnostic classifications, according to the DSM-5, include a severity rating. Several screening and/or diagnostic measures, such as the autism diagnostic and observation schedule (ADOS), Childhood Autism Rating Scale (CARS) and social responsiveness scale (SRS) (teacher and parent versions), include an assessment of symptom severity. The purpose of this study was to examine whether symptom severity and/or diagnostic status of preschool-aged children with ASD (N = 201) were similarly categorized on these measures. For half of the sample, children were similarly classified across the four measures, and scores on most measures were correlated, with the exception of the ADOS and SRS-P. While the ADOS, CARS, and SRS are reliable and valid measures, there is some disagreement between measures with regard to child classification and the categorization of autism symptom severity.
C1 [Reszka, Stephanie S.; Boyd, Brian A.] Univ N Carolina, Dept Allied Hlth, Div Occupat Sci & Occupat Therapy, Chapel Hill, NC 27599 USA.
[McBee, Matthew; Hume, Kara A.; Odom, Samuel L.] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
RP Reszka, SS (reprint author), Univ N Carolina, Dept Allied Hlth, Div Occupat Sci & Occupat Therapy, 321 S Columbia St,Bondurant Hall CB 7122, Chapel Hill, NC 27599 USA.
EM stephanie.reszka@unc.edu
CR American Psychiatric Association, 2012, DSM 5 PROP CRIT AUT
Chlebowski C, 2010, J AUTISM DEV DISORD, V40, P787, DOI 10.1007/s10803-009-0926-x
Constantino JN, 2003, J AUTISM DEV DISORD, V33, P427, DOI 10.1023/A:1025014929212
Constantino JN, 2002, SOCIAL RESPONSIVENES
Gotham K., 2009, J AUTISM DEV DISORD, V39, P695
Lord C., 1999, AUTISM DIAGNOSTIC OB
Matson JL, 2012, RES AUTISM SPECT DIS, V6, P19, DOI 10.1016/j.rasd.2011.08.003
Mayes SD, 2009, J AUTISM DEV DISORD, V39, P1682, DOI 10.1007/s10803-009-0812-6
Mullen E, 1995, MULLEN SCALES EARLY
Rutter M., 2003, SOCIAL COMMUNICATION
Schopler E., 1986, CHILDHOOD AUTISM RAT
Schopler E., 2010, CHILDHOOD AUTISM RAT, VSecond
Ventola PE, 2006, J AUTISM DEV DISORD, V36, P839, DOI 10.1007/s10803-006-0128-8
Zimmerman I., 2003, PRESCHOOL LANGUAGE S
NR 14
TC 4
Z9 4
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0162-3257
EI 1573-3432
J9 J AUTISM DEV DISORD
JI J. Autism Dev. Disord.
PD FEB
PY 2014
VL 44
IS 2
SI SI
BP 466
EP 470
DI 10.1007/s10803-013-1879-7
PG 5
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500023
PM 23807205
ER
PT J
AU Weitlauf, AS
Gotham, KO
Vehorn, AC
Warren, ZE
AF Weitlauf, Amy S.
Gotham, Katherine O.
Vehorn, Alison C.
Warren, Zachary E.
TI Brief Report: DSM-5 "Levels of Support:" A Comment on Discrepant
Conceptualizations of Severity in ASD
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE Autism; Severity; Diagnosis; DSM-5
ID AUTISM SPECTRUM DISORDERS; DIAGNOSIS
AB Proposed DSM-5 revisions to the diagnosis of autism spectrum disorder (ASD) include a "severity" marker based on degree of impairment. Although qualitative differences between support levels are described, quantitative methods or practice recommendations for differentiating between levels remain undetermined. This leaves the field vulnerable to potential discrepancies between severity categorizations that may have inadvertent service implications. We examined overlap between mild, moderate, and severe impairment classifications based on autism symptoms, cognitive skills, and adaptive functioning in 726 participants (15 months-17 years) with ASD. Participants with mild, moderate, and severe autism symptoms demonstrated varying levels of adaptive and cognitive impairment. These discrepancies highlight the need for a clearly elucidated method of classifying level of support in ASD diagnosis.
C1 [Weitlauf, Amy S.; Gotham, Katherine O.; Vehorn, Alison C.; Warren, Zachary E.] Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, Nashville, TN 37203 USA.
[Warren, Zachary E.] Vanderbilt Univ, Dept Pediat, Nashville, TN USA.
[Warren, Zachary E.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
RP Weitlauf, AS (reprint author), Vanderbilt Kennedy Ctr, Treatment & Res Inst Autism Spectrum Disorders, 230 Appleton Pl,PMB 74, Nashville, TN 37203 USA.
EM amy.s.weitlauf@vanderbilt.edu
CR American Psychatric Association, 2013, DSM 5 FREQ ASK QUEST
American Psychatric Association, 2012, DSM 5 DEV AUT DIS
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
Bayley N, 1993, BAYLEY SCALES INFANT
Bernier R., 2012, SFARI VIEWPOINTS
Elliott C., 2007, DIFFERENTIAL ABILITY
Goin-Kochel RP, 2006, AUTISM, V10, P439, DOI 10.1177/1362361306066601
Gotham K, 2009, J AUTISM DEV DISORD, V39, P693, DOI 10.1007/s10803-008-0674-3
Hus V, 2014, J AUTISM DEV DISORD, V44, P2400, DOI 10.1007/s10803-012-1719-1
Kanne SM, 2011, J AUTISM DEV DISORD, V41, P1007, DOI 10.1007/s10803-010-1126-4
Kaufman A. S., 1990, KAUFMAN BRIEF INTELL
Lord C., 2012, AUTISM DIAGN OBSERVA
Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947
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Roid G. H., 2003, STANFORD BINET INTEL
Sparrow SS, 2005, VINELAND ADAPTIVE BE
Warren Z. E., 2011, AUTISM SPECTRUM DISO, P1269
Wechsler D., 2003, WECHSLER INTELLIGENC
Wechsler D., 2002, WECHSLER PRESCHOOL P, V3rd
NR 22
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 471
EP 476
DI 10.1007/s10803-013-1882-z
PG 6
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500024
PM 23812664
ER
PT J
AU Tipton, LA
Blacher, J
AF Tipton, Leigh Ann
Blacher, Jan
TI Brief Report: Autism Awareness: Views from a Campus Community
SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
LA English
DT Article
DE College; Community awareness; Attitudes
ID SPECTRUM DISORDERS; CHILDREN; STUDENTS; MEASLES; MUMPS
AB This paper reports on a college community's views of the diagnostic characteristics and causes associated with autism spectrum disorders. An anonymous on-line survey of autism knowledge was distributed via campus server university-wide to all undergraduates, graduate students, faculty, and staff. Of the 1,057 surveys completed, 76 % of respondents had more correct answers than neutral and incorrect ones. Respondents who reported that they or someone in their immediate family had autism had significantly more correct responses than other respondents. Demographic variables of respondent sex, age, education, and role at the university independently accounted for significant, though modest, variance in autism knowledge. More accurate and widespread dissemination of information about autism may facilitate a smoother transition for college students who are on the spectrum.
C1 [Tipton, Leigh Ann; Blacher, Jan] Univ Calif Riverside, Riverside, CA 92521 USA.
RP Tipton, LA (reprint author), Univ Calif Riverside, Riverside, CA 92521 USA.
EM ltipt001@ucr.edu
CR Ahearn William H, 2010, Behav Anal Pract, V3, P46
American Psychiatric Association, 2000, DIAGN STAT MAN MENT
American Psychiatric Association, 1980, DIAGN STAT MAN MENT
Boyd B. A., 2010, PREVENTING SCH FAILU, V54, P211
Butler RC, 2011, J AUTISM DEV DISORD, V41, P741, DOI 10.1007/s10803-010-1093-9
Centers for Disease Control and Prevention, 2012, PREV AUT SPECTR DIS
Chambres P., 2008, J AUTISM DEV DISORD, V38, P320
Cook L., 2009, INT J TEACHING LEARN, V21, P84
Dillman DA, 2000, MAIL INTERNET SURVEY
Fombonne E., 2006, PEDIATRICS, V118, P139
Freedman, 2010, DEV COLL SKILLS STUD
Gorrindo P, 2012, AUTISM RES, V5, P101, DOI 10.1002/aur.237
Green VA, 2006, RES DEV DISABIL, V27, P70, DOI 10.1016/j.ridd.2004.12.002
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Kaye JA, 2001, BRIT MED J, V322, P460, DOI 10.1136/bmj.322.7284.460
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Lord C., 2001, ED CHILDR AUT
LOVAAS OI, 1987, J CONSULT CLIN PSYCH, V55, P3, DOI 10.1037/0022-006X.55.1.3
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Newman L., 2011, 20113005 NCSER SRI I
Offit Paul, 2008, AUTISMS FALSE PROPHE
Reichow B, 2011, EVIDENCE-BASED PRACTICES AND TREATMENTS FOR CHILDREN WITH AUTISM, P1, DOI 10.1007/978-1-4419-6975-0
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White SW, 2012, COGN BEHAV PRACT, V19, P433
Wing L, 2002, MENT RETARD DEV D R, V8, P151, DOI 10.1002/mrdd.10029
NR 38
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 FEB
PY 2014
VL 44
IS 2
SI SI
BP 477
EP 483
DI 10.1007/s10803-013-1893-9
PG 7
WC Psychology, Developmental
SC Psychology
GA 302TJ
UT WOS:000330627500025
PM 23881093
ER
PT J
AU Kaale, A
Fagerland, MW
Martinsen, EW
Smith, L
AF Kaale, Anett
Fagerland, Morten W.
Martinsen, Egil W.
Smith, Lars
TI Preschool-Based Social Communication Treatment for Children With Autism:
12-Month Follow-Up of a Randomized Trial
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; follow-up; language; preschool-based treatment; social
communication
ID JOINT ATTENTION INTERVENTION; YOUNG-CHILDREN; DOWN-SYNDROME; LANGUAGE;
PREDICTORS; SPECTRUM; PLAY; COMPETENCE; ENGAGEMENT; DISORDERS
AB Objective: This study reports 12-month follow-up data from a randomized controlled trial of preschool-based social communication treatment for young children with autism. Method: A total of 61 children (48 males) with autism, 29 to 60 months of age, had earlier been randomized either to 8 weeks of preschool-based social communication treatment in addition to standard preschool program (n = 34) or to standard preschool program only (n = 27). Significant short-term effects on targeted social communication skills have previously been published. Long-term gains in social communication, language and global social functioning and communication were assessed from video-taped preschool teacher-child and mother-child interactions, Early Social Communication Scales, Reynell Developmental Language Scale, and Social Communication Questionnaire. Results: Compared with those in the control group, the treated children achieved significantly larger improvements in joint attention and joint engagement from baseline to 12-month follow-up. However, no effects were detected on language and global ratings of social functioning and communication. The treatment effect on child initiation of joint attention increased with increasing level of sociability at baseline, whereas nonverbal IQ and expressive language had no moderating effect. Conclusions: This study is the first to show that, similar to specialist-delivered treatment, preschool-based treatment may produce small but possibly clinically important long-term changes in social communication in young children with autism. The treatment did not affect language and global ratings of social functioning and communication. More studies are needed to better understand whether treatment effects may be improved by increasing the intensity and duration of the treatment. Clinical trial registration information-Joint Attention Intervention and Young Children With Autism; http://clinicaltrials.gov/; NCT00378157.
C1 [Kaale, Anett; Fagerland, Morten W.; Martinsen, Egil W.] Oslo Univ Hosp, N-0424 Oslo, Norway.
[Martinsen, Egil W.] Univ Oslo, N-0316 Oslo, Norway.
[Smith, Lars] Eastern & Southern Norway, Ctr Child & Adolescent Mental Hlth, Oslo, Norway.
RP Kaale, A (reprint author), Oslo Univ Hosp, Div Mental Hlth & Addict, POB 4959 Nydalen, N-0424 Oslo, Norway.
EM anett.kaale@r-bup.no
FU South-Eastern Norway Regional Health Authority [2005069]; Oslo
University Hospital; Regional Center for Child and Adolescent Mental
Health; East and South Norway; Regional Resource Center for Autism;
Attention-Deficit/Hyperactivity Disorder (AD/HD); Tourette Syndrome and
Narcolepsy
FX This study was supported by grants (no. 2005069) from South-Eastern
Norway Regional Health Authority, Oslo University Hospital, Regional
Center for Child and Adolescent Mental Health, East and South Norway,
and Regional Resource Center for Autism, Attention-Deficit/Hyperactivity
Disorder (AD/HD), Tourette Syndrome and Narcolepsy.
CR Adamson LB, 2009, J AUTISM DEV DISORD, V39, P84, DOI 10.1007/s10803-008-0601-7
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Carter AS, 2011, J CHILD PSYCHOL PSYC, V52, P741, DOI 10.1111/j.1469-7610.2011.02395.x
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Charman T, 2003, INT J LANG COMM DIS, V38, P265, DOI 10.1080/136820310000104830
Chiang CH, 2008, J AUTISM DEV DISORD, V38, P1898, DOI 10.1007/s10803-008-0586-2
Goods KS, 2013, J AUTISM DEV DISORD, V43, P1050, DOI 10.1007/s10803-012-1644-3
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Hagtvet B., 1985, REYNELL SPRAKTEST
Kaale A, 2012, J CHILD PSYCHOL PSYC, V53, P97, DOI 10.1111/j.1469-7610.2011.02450.x
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Kasari C, 2008, J CONSULT CLIN PSYCH, V76, P125, DOI 10.1037/0022-006X.76.1.125
Kasari C, 2010, J AUTISM DEV DISORD, V40, P1045, DOI 10.1007/s10803-010-0955-5
Landa RJ, 2011, J CHILD PSYCHOL PSYC, V52, P13, DOI 10.1111/j.1469-7610.2010.02288.x
Lawton K, 2012, J CONSULT CLIN PSYCH, V80, P687, DOI 10.1037/a0028506
LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145
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Mullen E., 1997, MULLEN SCALES EARLY
MUNDY P, 1994, DEV PSYCHOPATHOL, V6, P389, DOI 10.1017/S0954579400006003
Mundy P., 2003, MANUAL ABRIDGED EARL
Oosterling I, 2010, J AUTISM DEV DISORD, V40, P1447
Rutter M., 2003, SOCIAL COMMUNICATION
Sigman M, 1999, MONOGR SOC RES CHILD, V64, P1, DOI 10.1111/1540-5834.00002
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NR 30
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 FEB
PY 2014
VL 53
IS 2
BP 188
EP 198
DI 10.1016/j.jaac.2013.09.019
PG 11
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA0WU
UT WOS:000330818900009
PM 24472253
ER
PT J
AU Holmboe, K
Rijsdijk, FV
Hallett, V
Happe, F
Plomin, R
Ronald, A
AF Holmboe, Karla
Rijsdijk, Fruhling V.
Hallett, Victoria
Happe, Francesca
Plomin, Robert
Ronald, Angelica
TI Strong Genetic Influences on the Stabiliiy of Autistic Traits in
Childhood
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism spectrum disorder; autistic traits; behavior genetics;
longitudinal
ID TWINS EARLY DEVELOPMENT; ASPERGER-SYNDROME TEST; GENERAL-POPULATION;
SPECTRUM DISORDERS; BEHAVIOR PROBLEMS; TEST CAST; MULTIVARIATE;
HERITABILITY; RELIABILITY; IMPAIRMENT
AB Objective: Disorders on the autism spectrum, as well as autistic traits in the general population, have been found to be both highly stable across age and highly heritable at individual ages. However, little is known about the overlap in genetic and environmental influences on autistic traits across age and the contribution of such influences to trait stability itself. The present study investigated these questions in a general population sample of twins. Method: More than 6,000 twin pairs were rated on an established scale of autistic traits by their parents at 8, 9, and 12 years of age and by their teachers at 9 and 12 years of age. Data were analyzed using structural equation modeling. Results: The results indicated that, consistently across raters, not only were autistic traits stable, and moderately to highly heritable at individual ages, but there was also a high degree of overlap in genetic influences across age. Furthermore, autistic trait stability could largely be accounted for by genetic factors, with the environment unique to each twin playing a minor role. The environment shared by twins had virtually no effect on the longitudinal stability in autistic traits. Conclusions: Autistic traits are highly stable across middle childhood, and this stability is caused primarily by genetic factors.
C1 [Holmboe, Karla] Univ Essex, Dept Psychol, Colchester CO4 3SQ, Essex, England.
[Rijsdijk, Fruhling V.; Hallett, Victoria; Happe, Francesca; Plomin, Robert] Kings Coll London, Med Res Council MRC Social Genet & Dev Psychiat C, Inst Psychiat, London WC2R 2LS, England.
[Ronald, Angelica] Univ London, Dept Psychol Sci, London WC1E 7HU, England.
RP Holmboe, K (reprint author), Univ Essex, Dept Psychol, Colchester CO4 3SQ, Essex, England.
EM kholmboe@essex.ac.uk
RI Ronald, Angelica/C-7812-2009
OI Ronald, Angelica/0000-0002-9576-2176
FU U.K. Medical Research Council [G0901245]; U.K. Medical Research Council;
U.K. Economic and Social Research Council [G0800054]; British Academy
[pf100035]
FX The Twins Early Development Study (TEDS) is funded by the U.K. Medical
Research Council, (Programme Grant No. G0901245 [and previously
G0500079], P.I. Prof. Plomin). The first author was supported by an
interdisciplinary postdoctoral fellowship from the U.K. Medical Research
Council and the U.K. Economic and Social Research Council (Fellowship.No
G0800054) and a British Academy postdoctoral fellowship (Fellowship No.
pf100035).
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
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NR 39
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 FEB
PY 2014
VL 53
IS 2
BP 221
EP 230
DI 10.1016/j.iaac.2013.11.001
PG 10
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA0WU
UT WOS:000330818900012
PM 24472256
ER
PT J
AU Volkmar, F
Siegel, M
Woodbury-Smith, M
King, B
McCracken, J
State, M
AF Volkmar, Fred
Siegel, Matthew
Woodbury-Smith, Marc
King, Bryan
McCracken, James
State, Matthew
CA Amer Acad Child Adolescent
TI Practice Parameter for the Assessment and Treatment of Children and
Adolescents With Autism Spectrum Disorder
SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
LA English
DT Article
DE autism; Practice Parameters; guidelines; developmental disorders;
pervasive developmental disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; PLACEBO-CONTROLLED CROSSOVER; SERIOUS BEHAVIORAL-PROBLEMS;
DOUBLE-BLIND; CONTROLLED-TRIAL; DIAGNOSTIC INTERVIEW;
MENTAL-RETARDATION; ASPERGER-SYNDROME; YOUNG-CHILDREN
AB Autism spectrum disorder is characterized by patterns of delay and deviance in the development of social, communicative, and cognitive skills that arise in the first years of life. Although frequently associated with intellectual disability, this condition is distinctive in its course, impact, and treatment. Autism spectrum disorder has a wide range of syndrome expression and its management presents particular challenges for clinicians. Individuals with an autism spectrum disorder can present for clinical care at any point in development. The multiple developmental and behavioral problems associated with this condition necessitate multidisciplinary care, coordination of services, and advocacy for individuals and their families. Early, sustained intervention and the use of multiple treatment modalities are indicated.
C1 [Volkmar, Fred] AACAP Commun Dept, Washington, DC 20016 USA.
RP Volkmar, F (reprint author), AACAP Commun Dept, 3615 Wisconsin Ave NW, Washington, DC 20016 USA.
FU National Institute of Child Health and Human, Development; National
Institute of Mental Health; National Institutes of Health (NIH); Seaside
Therapeutics; Health Resources and Services Administration;
Bristol-Myers Squibb
FX Fred Volkmar, MD, receives or has received research funding from the
National Institute of Child Health and Human, Development and the
National Institute of Mental Health and has intellectual property with
John Wiley & Sons, Inc., Guilford Publications, Inc, and Springer.
Matthew Siegel, MD, has no financial conflicts of interest to disclose
Marc Woodbury-Smith, MD, hos no financial conflicts of interest to
disclose. Bryan King, MD, has or has received research funding from the
National Institutes of Health (NIH), Seaside Therapeutics, and Health
Resources and Services Administration and serves or has served Os an
advisor/consultant with the U.S. Department of Justice. James McCracken,
MD, has or has, received research funding from Seaside Therapeutics and
Bristol-Myers Squibb, serves or has served as an advisor/consultant to
BioMarin Pharmaceuticals, Inc., and receives or has received honoraria
as a speaker for Veritas, Discoveiy-Channel Health CME, and CME
Outfitters, LLC. Matthew State, MD, has or has received research funding
from the NIH and Howard Hughes Medical Institute and has an exclusive
licensa agreement with Athena Diagnostics. Oscar Bukstein, MD, MPH;
cochair, has served as a consultant for Ezra Innovations and for PRIME
CME. He receives royalties from Routledge Press. Heather Walter, MD,
MPH, and William Bernet, MD, co-chairs, have no,financial relationships
to disclose. Disclosures of potential conflicts of interest for all
other individuals named above are provided on the AACAP Web site on the
Practice Parameters page.
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NR 160
TC 12
Z9 12
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 FEB
PY 2014
VL 53
IS 2
BP 237
EP 257
DI 10.1016/j.jaac.2013.10.013
PG 21
WC Psychology, Developmental; Pediatrics; Psychiatry
SC Psychology; Pediatrics; Psychiatry
GA AA0WU
UT WOS:000330818900017
PM 24472258
ER
PT J
AU Lotan, A
Lifschytz, T
Slonimsky, A
Broner, EC
Greenbaum, L
Abedat, S
Fellig, Y
Cohen, H
Lory, O
Goelman, G
Lerer, B
AF Lotan, A.
Lifschytz, T.
Slonimsky, A.
Broner, E. C.
Greenbaum, L.
Abedat, S.
Fellig, Y.
Cohen, H.
Lory, O.
Goelman, G.
Lerer, B.
TI Neural mechanisms underlying stress resilience in Ahi1 knockout mice:
relevance to neuropsychiatric disorders
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE Ahi1; anxiety; mice; resilience; schizophrenia; stress
ID ANXIETY-LIKE BEHAVIOR; BASOLATERAL AMYGDALOID COMPLEX; JOUBERT SYNDROME
GENE; ELEVATED PLUS-MAZE; C-FOS EXPRESSION; FUNCTIONAL CONNECTIVITY;
RETINAL DEGENERATION; ANIMAL-MODELS; MOUSE MODEL; SCHIZOPHRENIA
AB The Abelson helper integration site 1 (AHI1) gene has a pivotal role in brain development. Studies by our group and others have demonstrated association of AHI1 with schizophrenia and autism. To elucidate the mechanism whereby alteration in AHI1 expression may be implicated in the pathogenesis of neuropsychiatric disorders, we studied Ahi1 heterozygous knockout (Ahi1(+/-)) mice. Although their performance was not different from wild-type mice on tests that model classical schizophreniarelated endophenotypes, Ahi1(+/-) mice displayed an anxiolytic-like phenotype across different converging modalities. Using behavioral paradigms that involve exposure to environmental and social stress, significantly decreased anxiety was evident in the open field, elevated plus maze and dark-light box, as well as during social interaction in pairs. Assessment of core temperature and corticosterone secretion revealed a significantly blunted response of the autonomic nervous system and the hypothalamic-pituitary-adrenal axis in Ahi1(+/-) mice exposed to environmental and visceral stress. However, response to centrally acting anxiogenic compounds was intact. On resting-state functional MRI, connectivity of the amygdala with other brain regions involved in processing of anxiogenic stimuli and inhibitory avoidance learning, such as the lateral entorhinal cortex, ventral hippocampus and ventral tegmental area, was significantly reduced in the mutant mice. Taken together, our data link Ahi1 under-expression with a defect in the process of threat detection. Alternatively, the results could be interpreted as representing an anxiety-related endophenotype, possibly granting the Ahi1(+/-) mouse relative resilience to various types of stress. The current knockout model highlights the contribution of translational approaches to understanding the genetic basis of emotional regulation and its associated neurocircuitry, with possible relevance to neuropsychiatric disorders.
C1 [Lotan, A.; Lifschytz, T.; Slonimsky, A.; Broner, E. C.; Greenbaum, L.; Lerer, B.] Hadassah Hebrew Univ, Med Ctr, Biol Psychiat Lab, IL-91120 Jerusalem, Israel.
[Abedat, S.] Hadassah Hebrew Univ, Med Ctr, Cardiovasc Res Ctr, IL-91120 Jerusalem, Israel.
[Fellig, Y.] Hadassah Hebrew Univ, Med Ctr, Dept Pathol, IL-91120 Jerusalem, Israel.
[Cohen, H.] Ben Gurion Univ Negev, Anxiety & Stress Res Unit, Beer Sheva, Israel.
[Lory, O.; Goelman, G.] Hadassah Hebrew Univ, Med Ctr, MRI Lab, IL-91120 Jerusalem, Israel.
RP Lerer, B (reprint author), Hadassah Hebrew Univ, Med Ctr, Biol Psychiat Lab, IL-91120 Jerusalem, Israel.
EM lerer@hadassah.org.il
FU Israel Science Foundation
FX This work was supported in part by a grant from the Israel Science
Foundation (to BL). We thank Dr A Rigbi for his assistance in the
statistical analysis of the data.
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NR 86
TC 6
Z9 6
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 FEB
PY 2014
VL 19
IS 2
BP 243
EP 252
DI 10.1038/mp.2013.123
PG 10
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 303WU
UT WOS:000330706800022
PM 24042478
ER
PT J
AU Brown, AS
Sourander, A
Hinkka-Yli-Salomaki, S
McKeague, IW
Sundvall, J
Surcel, HM
AF Brown, A. S.
Sourander, A.
Hinkka-Yli-Salomaki, S.
McKeague, I. W.
Sundvall, J.
Surcel, H-M
TI Elevated maternal C-reactive protein and autism in a national birth
cohort
SO MOLECULAR PSYCHIATRY
LA English
DT Article
DE Autism; prenatal; C-reactive protein; infection; inflammation; cytokines
ID SPECTRUM DISORDERS; IMMUNE INVOLVEMENT; PRENATAL INFECTION; TWIN PAIRS;
CHILDREN; BRAIN; SCHIZOPHRENIA; RISK; PREGNANCY; IL-6
AB Autism is a complex neuropsychiatric syndrome with a largely unknown etiology. Inflammation during pregnancy may represent a common pathway by which infections and other insults increase risk for the disorder. Hence, we investigated the association between early gestational C-reactive protein (CRP), an established inflammatory biomarker, prospectively assayed in maternal sera, and childhood autism in a large national birth cohort with an extensive serum biobank. Other strengths of the cohort included nearly complete ascertainment of pregnancies in Finland (N = 1.2 million) over the study period and national psychiatric registries consisting of virtually all treated autism cases in the population. Increasing maternal CRP levels, classified as a continuous variable, were significantly associated with autism in offspring. For maternal CRP levels in the highest quintile, compared with the lowest quintile, there was a significant, 43% elevated risk. This finding suggests that maternal inflammation may have a significant role in autism, with possible implications for identifying preventive strategies and pathogenic mechanisms in autism and other neurodevelopmental disorders.
C1 [Brown, A. S.; Sourander, A.] Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY 10032 USA.
[Brown, A. S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
[Sourander, A.; Hinkka-Yli-Salomaki, S.] Univ Turku, Fac Med, Dept Child Psychiat, Turku, Finland.
[Sourander, A.; Hinkka-Yli-Salomaki, S.] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[McKeague, I. W.] Columbia Univ, Mailman Sch Publ Hlth, Dept Biostat, New York, NY USA.
[Sundvall, J.] Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland.
[Surcel, H-M] Natl Inst Hlth & Welf, Oulu, Finland.
RP Brown, AS (reprint author), Columbia Univ Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, 1051 Riverside Dr,Unit 23, New York, NY 10032 USA.
EM asb11@columbia.edu
FU National Institute of Environmental Health Sciences [R01 ES019004-03];
National Institute of Mental Health [K02 MH065422-09]; Autism Speaks;
State Research Institute (National Institute of Health and Welfare)
FX This manuscript was supported by grants R01 ES019004-03 (A.S.B.) from
the National Institute of Environmental Health Sciences, K02 MH065422-09
(A.S.B.) from the National Institute of Mental Health, a grant from
Autism Speaks (A.S.), and the State Research Institute (National
Institute of Health and Welfare). We wish to acknowledge the following
individuals for their contributions to this work: Jaana Leiviska for
performing the CRP analysis, Finnish Maternity Cohort laboratory staff
for retrieving and preparing the samples for analysis, Jacky Chow and
Patric Prado for manuscript preparation, and Yuanyuan Bao for data
consultation.
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NR 52
TC 13
Z9 13
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 FEB
PY 2014
VL 19
IS 2
BP 259
EP 264
DI 10.1038/mp.2012.197
PG 6
WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry
SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry
GA 303WU
UT WOS:000330706800024
PM 23337946
ER
PT J
AU Lepage, JF
Hong, DS
Raman, M
Marzelli, M
Roeltgen, DP
Lai, S
Ross, J
Reiss, AL
AF Lepage, J. -F.
Hong, D. S.
Raman, M.
Marzelli, M.
Roeltgen, D. P.
Lai, S.
Ross, J.
Reiss, A. L.
TI Brain morphology in children with 47,XYY syndrome: a voxel- and
surface-based morphometric study
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Aneuploidy; autism; brain development; sex chromosome; sexual dimorphism
ID HUMAN CEREBRAL-CORTEX; SEX-CHROMOSOME ABNORMALITIES;
KLINEFELTER-SYNDROME; XYY SYNDROME; RANDOM-FIELD; AUTISM; SEGMENTATION;
BOYS; SIZE; XXY
AB The neurocognitive and behavioral profile of individuals with 47,XYY is increasingly documented; however, very little is known about the effect of a supernumerary Y-chromosome on brain development. Establishing the neural phenotype associated with 47,XYY may prove valuable in clarifying the role of Y-chromosome gene dosage effects, a potential factor in several neuropsychiatric disorders that show a prevalence bias toward males, including autism spectrum disorders. Here, we investigated brain structure in 10 young boys with 47,XYY and 10 age-matched healthy controls by combining voxel-based morphometry (VBM) and surface-based morphometry (SBM). The VBM results show the existence of altered gray matter volume (GMV) in the insular and parietal regions of 47,XYY relative to controls, changes that were paralleled by extensive modifications in white matter (WM) bilaterally in the frontal and superior parietal lobes. The SBM analyses corroborated these findings and revealed the presence of abnormal surface area and cortical thinning in regions with abnormal GMV and WMV. Overall, these preliminary results demonstrate a significant impact of a supernumerary Y-chromosome on brain development, provide a neural basis for the motor, speech and behavior regulation difficulties associated with 47,XYY and may relate to sexual dimorphism in these areas.
C1 [Lepage, J. -F.; Hong, D. S.; Raman, M.; Marzelli, M.; Reiss, A. L.] Stanford Univ, Ctr Interdisciplinary Brain Sci Res, Sch Med, Stanford, CA 94305 USA.
[Roeltgen, D. P.; Lai, S.; Ross, J.] Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA.
[Reiss, A. L.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Reiss, A. L.] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA.
RP Reiss, AL (reprint author), Ctr Interdisciplinary Brain Sci Res, 407 Quarry Rd,MC 5795, Stanford, CA 94305 USA.
EM areiss1@stanford.edu
FU Delaware Health Science Alliance Pilot Award; NIH [R01HD049653];
Canadian Institutes of Health Research (CIHR); National Institute of
Mental Health [MH097120]
FX This study was funded in part by Delaware Health Science Alliance Pilot
Award (J.R.) and NIH R01HD049653 (A.R). J.F.L. is supported by a
Postdoctoral Fellowship from the Canadian Institutes of Health Research
(CIHR). D.H. is supported by an award from the National Institute of
Mental Health (MH097120). The NIH did not participate in study design,
data collection, data analysis, manuscript preparation or publication
decisions. We would like to acknowledge the support of the families
involved in the study. We thank the Department of Radiology, Thomas
Jefferson University for providing the MRI scanner time via a research
support initiative to S.L.
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NR 45
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 FEB
PY 2014
VL 13
IS 2
BP 127
EP 134
DI 10.1111/gbb.12107
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 295IQ
UT WOS:000330110200001
PM 24308542
ER
PT J
AU Goodbourn, PT
Bosten, JM
Bargary, G
Hogg, RE
Lawrance-Owen, AJ
Mollon, JD
AF Goodbourn, P. T.
Bosten, J. M.
Bargary, G.
Hogg, R. E.
Lawrance-Owen, A. J.
Mollon, J. D.
TI Variants in the 1q21 risk region are associated with a visual
endophenotype of autism and schizophrenia
SO GENES BRAIN AND BEHAVIOR
LA English
DT Article
DE Autism; endophenotype; frequency doubling; genome-wide association
study; schizophrenia; visual sensitivity
ID GENOME-WIDE ASSOCIATION; CONTRAST SENSITIVITY; GENETIC ASSOCIATION;
SPECTRUM DISORDERS; WILLIAMS-SYNDROME; LINKAGE ANALYSES; CANDIDATE
GENES; HAPLOTYPE MAP; SUSCEPTIBILITY; PERCEPTION
AB Deficits in sensitivity to visual stimuli of low spatial frequency and high temporal frequency (so-called frequency-doubled gratings) have been demonstrated both in schizophrenia and in autism spectrum disorder (ASD). Such basic perceptual functions are ideal candidates for molecular genetic study, because the underlying neural mechanisms are well characterized; but they have sometimes been overlooked in favor of cognitive and neurophysiological endophenotypes, for which neural substrates are often unknown. Here, we report a genome-wide association study of a basic visual endophenotype associated with psychological disorder. Sensitivity to frequency-doubled gratings was measured in 1060 healthy young adults, and analyzed for association with genotype using linear regression at 642758 single nucleotide polymorphism (SNP) markers. A significant association (P=7.9x10(-9)) was found with the SNP marker rs1797052, situated in the 5-untranslated region of PDZK1; each additional copy of the minor allele was associated with an increase in sensitivity equivalent to more than half a standard deviation. A permutation procedure, which accounts for multiple testing, showed that the association was significant at the =0.005 level. The region on chromosome 1q21.1 surrounding PDZK1 is an established susceptibility locus both for schizophrenia and for ASD, mirroring the common association of the visual endophenotype with the two disorders. PDZK1 interacts with N-methyl-d-aspartate receptors and neuroligins, which have been implicated in the etiologies of schizophrenia and ASD. These findings suggest that perceptual abnormalities observed in two different disorders may be linked by common genetic elements.
C1 [Goodbourn, P. T.] Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
[Bargary, G.] City Univ London, Div Optometry & Visual Sci, London EC1V 0HB, England.
[Hogg, R. E.] Queens Univ Belfast, Ctr Vis & Vasc Sci, Belfast, Antrim, North Ireland.
RP Goodbourn, PT (reprint author), Univ Sydney, Sch Psychol, Brennan MacCallum Bldg, Sydney, NSW 2006, Australia.
EM patrick.goodbourn@sydney.edu.au
FU Gatsby Charitable Foundation [GAT2903]; Cambridge Commonwealth Trust;
Cambridge Overseas Trust; U.K. Government
FX This work was supported by the Gatsby Charitable Foundation (GAT2903).
P.T.G. was supported by a scholarship from the Cambridge Commonwealth
and Overseas Trusts, and by an Overseas Research Studentship from the
U.K. Government. The authors are grateful to Horace Barlow, Roger
Freedman, Graeme Mitchison and Richard Durbin for their role in the
initiation of the Pergenic project, and to Julien Bauer, Emily Clemente
and Kerry Cliffe of Cambridge Genomic Services for their valuable help.
The authors declare no conflict of interest.
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NR 66
TC 6
Z9 6
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 FEB
PY 2014
VL 13
IS 2
BP 144
EP 151
DI 10.1111/gbb.12096
PG 8
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA 295IQ
UT WOS:000330110200003
PM 24152035
ER
PT J
AU Tax, CMW
Jeurissen, B
Vos, SB
Viergever, MA
Leemans, A
AF Tax, Chantal M. W.
Jeurissen, Ben
Vos, Sjoerd B.
Viergever, Max A.
Leemans, Alexander
TI Recursive calibration of the fiber response function for spherical
deconvolution of diffusion MRI data
SO NEUROIMAGE
LA English
DT Article
DE Diffusion MRI; Constrained spherical deconvolution; Tractography; Fiber
orientation distribution function; Fiber response function
ID ANISOTROPIC WATER DIFFUSION; WHITE-MATTER ARCHITECTURE; HUMAN BRAIN;
ORIENTATION DISTRIBUTIONS; IMAGING TRACTOGRAPHY; NERVOUS-SYSTEM;
WEIGHTED MRI; TENSOR MRI; AUTISM; RECONSTRUCTION
AB There is accumulating evidence that at current acquisition resolutions for diffusion-weighted (DW) MRI, the vast majority of white matter voxels contains "crossing fibers", referring to complex fiber configurations in which multiple and distinctly differently oriented fiber populations exist. Spherical deconvolution based techniques are appealing to characterize this DW intra-voxel signal heterogeneity, as they provide a balanced trade-off between constraints on the required hardware performance and acquisition time on the one hand, and the reliability of the reconstructed fiber orientation distribution function (fODF) on the other hand. Recent findings, however, suggest that an inaccurate calibration of the response function (RF), which represents the DW signal profile of a single fiber orientation, can lead to the detection of spurious fODF peaks which, in turn, can have a severe impact on tractography results. Currently, the computation of this RF is either model-based or estimated from selected voxels that have a fractional anisotropy (FA) value above a predefined threshold. For both approaches, however, there are user-defined settings that affect the RF and, consequently, fODF estimation and tractography. Moreover, these settings still rely on the second-rank diffusion tensor, which may not be the appropriate model, especially at high b-values. In this work, we circumvent these issues for RF calibration by excluding "crossing fibers" voxels in a recursive framework Our approach is evaluated with simulations and applied to in vivo and ex vivo data sets with different acquisition settings. The results demonstrate that with the proposed method the RF can be calibrated in a robust and automated way without needing to define ad-hoc FA threshold settings. Our framework facilitates the use of spherical deconvolution approaches in data sets in which it is not straightforward to define RF settings a priori. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Tax, Chantal M. W.; Vos, Sjoerd B.; Viergever, Max A.; Leemans, Alexander] Univ Med Ctr Utrecht, Image Sci Inst, NL-3508 GA Utrecht, Netherlands.
[Jeurissen, Ben] Univ Antwerp, Dept Phys, iMinds Vis Lab, B-2020 Antwerp, Belgium.
RP Tax, CMW (reprint author), Univ Med Ctr Utrecht, Image Sci Inst, Room QS 459,POB 85500, NL-3508 GA Utrecht, Netherlands.
EM chantal@isi.uu.nl
RI Leemans, Alexander/A-1784-2011; Viergever, Max/J-1215-2014
FU Dutch scientific foundation NWO [612.001.104]
FX We would like to thank Laurena Holleran and Karla L. Miller for
providing the ex vivo human brain data, and Tim B. Dyrby for the use of
the monkey spinal cord data. Furthermore, the authors thank Eleftherios
Garyfallidis for the useful discussion on the sharpening deconvolution
transform method. The research of Chantal Tax is supported by an FC-EW
grant (No. 612.001.104) from the Dutch scientific foundation NWO.
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NR 56
TC 9
Z9 9
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 FEB 1
PY 2014
VL 86
BP 67
EP 80
DI 10.1016/j.neuroimage.2013.07.067
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 298OZ
UT WOS:000330335300009
PM 23927905
ER
PT J
AU Swartz, JR
Carrasco, M
Wiggins, JL
Thomason, ME
Monk, CS
AF Swartz, Johnna R.
Carrasco, Melisa
Wiggins, Jillian Lee
Thomason, Moriah E.
Monk, Christopher S.
TI Age-related changes in the structure and function of prefrontal
cortex-amygdala circuitry in children and adolescents: A multi-modal
imaging approach
SO NEUROIMAGE
LA English
DT Article
DE fMRI; Diffusion tensor imaging; Emotion; Development; Internalizing;
Adolescence
ID WHITE-MATTER MICROSTRUCTURE; AUTISM SPECTRUM DISORDERS; FACIAL
EXPRESSIONS; ANXIETY DISORDER; MAJOR DEPRESSION; CONNECTIVITY MRI;
CONDUCT DISORDER; EMOTIONAL FACES; NEURAL SYSTEMS; HUMAN BRAIN
AB The uncinate fasciculus is a major white matter tract that provides a crucial link between areas of the human brain that underlie emotion processing and regulation. Specifically, the uncinate fasciculus is the major direct fiber tract that connects the prefrontal cortex and the amygdala The aim of the present study was to use a multi-modal imaging approach in order to simultaneously examine the relation between structural connectivity of the uncinate fasciculus and functional activation of the amygdala in a youth sample (children and adolescents). Participants were 9 to 19 years old and underwent diffusion tensor imaging (DTI) and functional magnetic resonance imaging (fMRI). Results indicate that greater structural connectivity of the uncinate fasciculus predicts reduced amygdala activation to sad and happy faces. This effect is moderated by age, with younger participants exhibiting a stronger relation. Further, decreased amygdala activation to sad faces predicts lower internalizing symptoms. These results provide important insights into brain structure-function relationships during adolescence, and suggest that greater structural connectivity of the uncinate fasciculus may facilitate regulation of the amygdala, particularly during early adolescence. These findings also have implications for understanding the relation between brain structure, function, and the development of emotion regulation difficulties, such as internalizing symptoms. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Swartz, Johnna R.; Wiggins, Jillian Lee; Monk, Christopher S.] Univ Michigan, Dept Psychol, Ann Arbor, MI 48104 USA.
[Carrasco, Melisa; Monk, Christopher S.] Univ Michigan, Neurosci Program, Ann Arbor, MI 48104 USA.
[Thomason, Moriah E.] Wayne State Univ, Merrill Palmer Skillman Inst Child & Family Dev, Detroit, MI 48202 USA.
[Thomason, Moriah E.] Wayne State Univ, Dept Pediat, Detroit, MI 48202 USA.
[Monk, Christopher S.] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48104 USA.
[Monk, Christopher S.] Univ Michigan, Ctr Human Growth & Dev, Ann Arbor, MI 48104 USA.
RP Swartz, JR (reprint author), Univ Michigan, 2221 East Hall,530 Church St, Ann Arbor, MI 48109 USA.
EM jrswartz@umich.edu; melisa_carrasco@urmc.rochester.edu;
leejilli@umich.edu; moriah@wayne.edu; csmonk@umich.edu
RI Monk, Christopher/J-1805-2014
FU Autism Speaks award; Michigan Institute for Clinical Health Research
(MICHR) Pre-doctoral Fellowship; National Center for Advancing
Translational Sciences of the National Institutes of Health
[2UL1TR000433]; MICHR Pre-doctoral Fellowship [UL1RR024986]; Autism
Speaks Fellowship; NARSAD award
FX This project was supported by an Autism Speaks award to C.S.M., a
Michigan Institute for Clinical Health Research (MICHR) Pre-doctoral
Fellowship to J.R.S. (supported by the National Center for Advancing
Translational Sciences of the National Institutes of Health under Award
Number 2UL1TR000433), a MICHR Pre-doctoral Fellowship to J.L.W.
(UL1RR024986), an Autism Speaks Fellowship to J.L.W., and a NARSAD award
to M.E.T. 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 55
TC 7
Z9 7
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 1053-8119
EI 1095-9572
J9 NEUROIMAGE
JI Neuroimage
PD FEB 1
PY 2014
VL 86
BP 212
EP 220
DI 10.1016/j.neuroimage.2013.08.018
PG 9
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 298OZ
UT WOS:000330335300023
PM 23959199
ER
PT J
AU Murdaugh, DL
Ver Hoef, LW
Kana, RK
AF Murdaugh, Donna L.
Ver Hoef, Lawrence W.
Kana, Rajesh K.
TI Functional brain connectivity in a child with autism with an enlarged
cavum septum pellucidum
SO NEUROPSYCHIATRY
LA English
DT Article
C1 [Murdaugh, Donna L.; Kana, Rajesh K.] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
[Ver Hoef, Lawrence W.] Univ Alabama Birmingham, Dept Neurol, Birmingham, AL 35294 USA.
RP Kana, RK (reprint author), Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA.
EM rkana@uab.edu
FU University of Alabama at Birmingham Department of Psychology
FX The authors would like to thank the University of Alabama at Birmingham
Department of Psychology for funding support. The authors have no other
relevant affiliations or financial involvement with any organization or
entity with a financial interest in or financial conflict with the
subject matter or materials discussed in the manuscript apart from those
disclosed.
CR Flashman LA, 2007, PSYCHIAT RES-NEUROIM, V154, P147, DOI 10.1016/j.pscychresns.2006.09.001
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NR 5
TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1758-2008
EI 1758-2016
J9 NEUROPSYCHIATRY-LOND
JI Neuropsychiatry
PD FEB
PY 2014
VL 4
IS 1
BP 23
EP 25
DI 10.2217/NPY.13.88
PG 3
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 298GX
UT WOS:000330313300008
ER
PT J
AU Pasterski, V
Gilligan, L
Curtis, R
AF Pasterski, Vickie
Gilligan, Liam
Curtis, Richard
TI Traits of Autism Spectrum Disorders in Adults with Gender Dysphoria
SO ARCHIVES OF SEXUAL BEHAVIOR
LA English
DT Article
DE Autism spectrum disorder; Asperger's Disorder; Comorbidity; Gender
dysphoria; Transsexualism
ID CONGENITAL ADRENAL-HYPERPLASIA; IDENTITY DISORDER; ASPERGER-SYNDROME;
SEXUAL ORIENTATION; CHILDREN; ADOLESCENTS; BEHAVIOR; SUBTYPES; AQ
AB The literature examining the co-occurrence of gender dysphoria (GD) and autistic traits has so far been limited to a series of small case studies and two systematic studies, one looking at autistic traits in gender dysphoric children and the other set within the context of the extreme male brain hypothesis and looking at adults. The current study examined this co-occurrence of GD and autistic traits in an adult population, to see whether this heightened prevalence persisted from childhood as well as to provide further comparison of MtF versus FtM transsexuals and homosexual versus nonhomosexual individuals. Using the Autistic Spectrum Quotient (AQ), 91 GD adults (63 male-to-female [MtF] and 28 female-to-male [FtM]) undertaking treatment at a gender clinic completed the AQ. The prevalence of autistic traits consistent with a clinical diagnosis for an autism spectrum disorder (ASD) was 5.5 % (n = 3 MtF and n = 2 FtM) compared to reports of clinical diagnoses of 0.5-2.0 % in the general population. In contrast to the single previous report in adults, there was no significant difference between MtF and FtM on AQ scores; however, all of those who scored above the clinical cut-off were classified as nonhomosexual with respect to natal sex. Results were considered in the context of emerging theories for the observed co-occurrence of GD and autistic traits.
C1 [Pasterski, Vickie] Dept Psychol, Cambridge CB2 3RQ, England.
[Gilligan, Liam] Univ E Anglia, Dept Psychol Sci, Norwich NR4 7TJ, Norfolk, England.
[Curtis, Richard] Gender Clin, Transhlth, London, England.
RP Pasterski, V (reprint author), Dept Psychol, New Museum Site,Free Sch Lane, Cambridge CB2 3RQ, England.
EM vp265@cam.ac.uk
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NR 28
TC 1
Z9 1
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0004-0002
EI 1573-2800
J9 ARCH SEX BEHAV
JI Arch. Sex. Behav.
PD FEB
PY 2014
VL 43
IS 2
BP 387
EP 393
DI 10.1007/s10508-013-0154-5
PG 7
WC Psychology, Clinical; Social Sciences, Interdisciplinary
SC Psychology; Social Sciences - Other Topics
GA 296TI
UT WOS:000330207900017
PM 23864402
ER
PT J
AU Lemaire, M
Thomazeau, B
Bonnet-Brilhault, F
AF Lemaire, Mathieu
Thomazeau, Barbara
Bonnet-Brilhault, Frederique
TI Gender Identity Disorder and Autism Spectrum Disorder in a 23-Year-Old
Female
SO ARCHIVES OF SEXUAL BEHAVIOR
LA English
DT Article
DE Gender Identity Disorder; Gender dysphoria; Autism Spectrum Disorder;
Psychiatric co-morbidity
ID PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; CHILDREN;
ADOLESCENTS; EPIDEMIOLOGY; TRAITS
AB We describe the case of a 23-year-old woman with Gender Identity Disorder (GID) asking for a cross-sex hormonal treatment with sex reassignment surgery and who was recently diagnosed with Autism Spectrum Disorder (ASD). Gender identity clinics are now reporting an overrepresentation of individuals with ASD among GID patients. The prevalence of ASD is 10-fold higher among GID patients than in general population. However, few case reports or studies have explored the co-occurrence of ASD and GID. This co-occurrence is relevant for diagnostic and clinical management and also raises important theoretical issues.
C1 [Lemaire, Mathieu; Thomazeau, Barbara; Bonnet-Brilhault, Frederique] CHRU Tours, Ctr Univ Pedopsychiat, F-37044 Tours 9, France.
[Lemaire, Mathieu; Thomazeau, Barbara; Bonnet-Brilhault, Frederique] Univ Francois Rabelais Tours Imaging & Brain, UMR Inserm U930, F-37044 Tours 9, France.
RP Lemaire, M (reprint author), Univ Francois Rabelais Tours Imaging & Brain, UMR Inserm U930, Blvd Tonnelle, F-37044 Tours 9, France.
EM mathieu.lemaire@gmail.com
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NR 22
TC 0
Z9 0
PU SPRINGER/PLENUM PUBLISHERS
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0004-0002
EI 1573-2800
J9 ARCH SEX BEHAV
JI Arch. Sex. Behav.
PD FEB
PY 2014
VL 43
IS 2
BP 395
EP 398
DI 10.1007/s10508-013-0141-x
PG 4
WC Psychology, Clinical; Social Sciences, Interdisciplinary
SC Psychology; Social Sciences - Other Topics
GA 296TI
UT WOS:000330207900018
PM 23835847
ER
PT J
AU Shetreat-Klein, M
Shinnar, S
Rapin, I
AF Shetreat-Klein, Maya
Shinnar, Shlomo
Rapin, Isabelle
TI Abnormalities of joint mobility and gait in children with autism
spectrum disorders
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Autism spectrum disorders; Abnormal gait; Toe walking; Passive joint
mobility; Hypotonia
ID IDIOPATHIC TOE-WALKING; DEVELOPMENTAL DISORDERS; DISTURBANCES; DIAGNOSIS
AB Aims: Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched typically developing peers (mean age 4 years 6 months, range 22 months-10 years 9 months). Methods: We evaluated maximum range of mobility at the elbow, wrist, metacarpo phalangeal, and ankle joints and videoed children walking and running. Two neurologists blind to diagnosis independently scored features of gait clinically. Results: Children with ASDs had significantly greater joint mobility (p < .002), more gait abnormalities (p < .0001), and on average walked 1.6 months later than their non-autistic peers. Interpretation: This study indicates that attention should be directed to motor abnormalities as well as sociability, communication, and restricted and repetitive behaviors in individuals with ASDs. Motor deficits add to children's other handicaps. They indicate that ASDs affect a broader range of central nervous system circuitry than often appreciated. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Shetreat-Klein, Maya; Shinnar, Shlomo; Rapin, Isabelle] Dept Neurol, Div Child Neurol Saul R Korey, Bronx, NY USA.
[Shinnar, Shlomo] Montefiore Med Ctr, Epilepsy Monitoring Unit, Bronx, NY USA.
[Rapin, Isabelle] Albert Einstein Coll Med, Rose F Kennedy Intellectual & Dev Disabil Res Ctr, Bronx, NY 10461 USA.
RP Rapin, I (reprint author), Albert Einstein Coll Med, Kennedy 807,1300 Morris Pare Ave, Bronx, NY 10461 USA.
EM isabelle.rapin@einstein.yu.edu
FU Albert Einstein College of Medicine
FX The authors thank the parents and children who participated in the
study. They express their gratitude to their colleagues in Pediatrics at
Jacobi Medical Center who referred typically developing children to the
study. They acknowledge the assistance of D.-R. Kathirithamby M.D. and
D. Cancel M.D., physiatrists, who kindly photographed goniometric
testing of joint motility in a 11 year old unaffected volunteer we also
thank. The study was supported in part by a grant from the Albert
Einstein College of Medicine to M. S. -K., enabling her to fulfill
requirements for M.D. with Distinction in Clinical Research under the
mentorship of S. Shinnar M.D., Ph.D.
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NR 23
TC 1
Z9 1
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 FEB
PY 2014
VL 36
IS 2
BP 91
EP 96
DI 10.1016/j.braindev.2012.02.005
PG 6
WC Clinical Neurology
SC Neurosciences & Neurology
GA 295YD
UT WOS:000330151400001
PM 22401670
ER
PT J
AU Yasumura, A
Kokubo, N
Yamamoto, H
Yasumura, Y
Nakagawa, E
Kaga, M
Hiraki, K
Inagaki, M
AF Yasumura, Akira
Kokubo, Naomi
Yamamoto, Hisako
Yasumura, Yukiko
Nakagawa, Eiji
Kaga, Makiko
Hiraki, Kazuo
Inagaki, Masumi
TI Neurobehavioral and hemodynamic evaluation of Stroop and reverse Stroop
interference in children with attention-deficit/hyperactivity disorder
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE Attention-deficit/hyperactivity disorder (ADHD); Near-infrared
spectroscopy (NIRS); Reverse Stroop task; Prefrontal cortex; Executive
function
ID NEAR-INFRARED SPECTROSCOPY; DEFICIT HYPERACTIVITY DISORDER; PREFRONTAL
ACTIVATION; EXECUTIVE FUNCTION; COGNITIVE CONTROL; WORKING-MEMORY;
YOUNG-CHILDREN; ADHD; TASK; COMMUNICATION
AB Failure of executive function (EF) is a core symptom of attention-deficit/hyperactivity disorder (ADHD). However, various results have been reported and sufficient evidence is lacking. In the present study, we evaluated the characteristics of children with ADHD using the Stroop task (ST) and reverse Stroop task (RST) that reflects the inhibition function of EF. We compared children with ADHD, typically developing children (TDC), and children with autism spectrum disorder (ASD), which is more difficult to discriminate from ADHD. A total of 10 children diagnosed with ADHD, 15 TDC, and 11 children diagnosed with ASD, all matched by age, sex, language ability, and intelligence quotient, participated in this study. While each subject performed computer-based ST and RST with a touch panel, changes in oxygenated hemoglobin (oxy-Hb) were measured in the prefrontal cortex (PFC) by near-infrared spectroscopy (NIRS) to correlate test performance with neural activity. Behavioral performance significantly differed among 3 groups during RST but not during ST. The ADHD group showed greater color interference than the TDC group. In addition, there was a negative correlation between right lateral PFC (LPFC) activity and the severity of attention deficit. Children with ADHD exhibit several problems associated with inhibition of color, and this symptom is affected by low activities of the right LPFC. In addition, it is suggested that low hemodynamic activities in this area are correlated with ADHD. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Yasumura, Akira; Kokubo, Naomi; Yamamoto, Hisako; Kaga, Makiko; Inagaki, Masumi] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Dev Disorders, Tokyo, Japan.
[Yasumura, Akira; Hiraki, Kazuo] Univ Tokyo, Grad Sch Arts & Sci, Tokyo, Japan.
[Yasumura, Yukiko] Saitama Jyunshin Coll, Dept Children, Saitama, Japan.
[Nakagawa, Eiji] NCNP Hosp, Dept Child Neurol, Tokyo, Japan.
RP Yasumura, A (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Dev Disorders, Tokyo, Japan.
EM yasumura@ncnp.go.jp
FU TMC; Neurological and Psychiatric Disorders of National Center of
Neurology and Psychiatry (NCNP) [22-6]
FX This work was supported in part by the TMC Young Investigator Fellowship
and an Intramural Research Grant (22-6; Clinical Research for Diagnostic
and Therapeutic Innovations in Developmental Disorders) for Neurological
and Psychiatric Disorders of National Center of Neurology and Psychiatry
(NCNP). We thank the parents and children who participated in the study.
We also thank the after-school care program at Sukage Nursery.
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NR 34
TC 2
Z9 3
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 FEB
PY 2014
VL 36
IS 2
BP 97
EP 106
DI 10.1016/j.braindev.2013.01.005
PG 10
WC Clinical Neurology
SC Neurosciences & Neurology
GA 295YD
UT WOS:000330151400002
PM 23414618
ER
PT J
AU Fujimoto, K
Nagai, T
Okazaki, S
Kawajiri, M
Tomiwa, K
AF Fujimoto, Keiko
Nagai, Toshisaburo
Okazaki, Shin
Kawajiri, Mie
Tomiwa, Kiyotaka
TI Development and verification of child observation sheet for 5-year-old
children
SO BRAIN & DEVELOPMENT
LA English
DT Article
DE COS; Pervasive developmental disorders; Clinical psychologists;
5-Year-old children; Screening; CARS
ID AUTISM; DISORDERS; VERSION
AB The aim of the study was to develop a newly devised child observation sheet (COS-5) as a scoring sheet, based on the Childhood Autism Rating Scale (CARS), for use in the developmental evaluation of 5-year-old children, especially focusing on children with autistic features, and to verify its validity. Seventy-six children were studied. The children were recruited among participants of the Japan Children's Cohort Study, a research program implemented by the Research Institute of Science and Technology for Society (RISTEX) from 2004 to 2009. The developmental evaluation procedure was performed by doctors, clinical psychologists, and public health nurses. The COS-5 was also partly based on the Kyoto Scale of Psychological Development 2001 (Kyoto Scale 2001). Further, the Developmental Disorders Screening Questionnaire for 5-Years-Olds, PDD-Autism Society Japan Rating Scale (PARS), doctor interview questions and neurological examination for 5-year-old children, and the Draw-a-Man Test (DAM) were used as evaluation scales. Eighteen (25.4%) children were rated as Suspected, including Suspected PDD, Suspected ADHD and Suspected MR. The COS-5 was suggested to be valid with favorable reliability (alpha = 0.89) and correlation with other evaluation scales. The COS-5 may be useful, with the following advantages: it can be performed within a shorter time frame; it facilitates the maintenance of observation quality; it facilitates sharing information with other professions; and it is reliable to identify the autistic features of 5-year-old children. In order to verify its wider applications including the screening of infants (18 months to 3 years old) by adjusting the items of younger age, additional study is needed. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
C1 [Fujimoto, Keiko; Nagai, Toshisaburo] Osaka Univ, Grad Sch Med, Course Hlth Sci, Osaka, Japan.
[Okazaki, Shin] Osaka City Gen Hosp, Osaka, Japan.
[Kawajiri, Mie] Osaka City Hlth Ctr, Osaka, Japan.
[Tomiwa, Kiyotaka] Todaiji Med & Educ Ctr, Nara, Japan.
RP Fujimoto, K (reprint author), Osaka Univ, Grad Sch Med, Course Hlth Sci, 1-7 Yamadaoka, Suita, Osaka 5670871, Japan.
EM k5_fujimoto@yahoo.co.jp
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NR 21
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 FEB
PY 2014
VL 36
IS 2
BP 107
EP 115
DI 10.1016/j.braindev.2013.01.008
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA 295YD
UT WOS:000330151400003
PM 23415454
ER
PT J
AU Helmstaedter, C
Aldenkamp, AP
Baker, GA
Mazarati, A
Ryvlin, P
Sankar, R
AF Helmstaedter, C.
Aldenkamp, A. P.
Baker, G. A.
Mazarati, A.
Ryvlin, Ph.
Sankar, R.
TI Disentangling the relationship between epilepsy and its behavioral
comorbidities - The need for prospective studies in new-onset epilepsies
SO EPILEPSY & BEHAVIOR
LA English
DT Article
DE Epilepsy; Comorbidities; Cognition; Behavior; Onset of epilepsy
ID TEMPORAL-LOBE EPILEPSY; TRANSCRANIAL MAGNETIC STIMULATION;
POSITRON-EMISSION-TOMOGRAPHY; ANTIEPILEPTIC DRUG-TREATMENT; PSYCHIATRIC
COMORBIDITY; MAJOR DEPRESSION; COGNITIVE DECLINE; TUBEROUS SCLEROSIS;
STATUS EPILEPTICUS; GABA(A) RECEPTOR
AB It has been long recognized that there is more to epilepsy than seizures. The prevalence of such neurobehavioral abnormalities as cognitive and mood disorders, autism spectrum disorder, and attention deficit and hyperactivity disorder (ADHD) is significantly higher among patients with epilepsy than in the general population. A long-held view that comorbidities of epilepsy represent mere epiphenomena of seizures has undergone substantial transformation during the past decade, as emerging clinical evidence and experimental evidence suggest the involvement of specific neurobiological mechanisms in the evolution of neurobehavioral deficits in patients with epilepsy. Developmental aspects of both epilepsy and its comorbidities, as well as the frequently reported reciprocal connection between these disorders, both add other dimensions to the already complex problem. In light of progress in effective seizure management in many patients with epilepsy, the importance of neurobehavioral comorbidities has become acute, as the latter are frequently more detrimental to patients' quality of life compared with seizures. This calls for a serious increase in efforts to effectively predict, manage, and ideally cure these comorbidities. Coordinated multicenter clinical, translational, and basic research studies focusing on epidemiology, neuropsychology, neurophysiology, imaging, genetics, epigenetics, and pharmacology of neurobehavioral comorbidities of epilepsy are absolutely instrumental for ensuring tangible progress in the field. Clinical research should focus more on new-onset epilepsy and put particular emphasis on longitudinal studies in large cohorts of patients and groups at risk, while translational research should primarily focus on the development of valid preclinical systems which would allow investigating the fundamental mechanism of epilepsy comorbidities.
The final goal of the described research efforts would lie in producing an armamentarium of evidence-based diagnostic tools and therapeutic interventions which would at minimum mitigate and at maximum prevent or abolish neurobehavioral comorbidities of epilepsy and, thus, improve the quality of life of those patients with epilepsy who suffer from the said comorbidities. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Helmstaedter, C.] Univ Clin Epileptol, Bonn, Germany.
[Aldenkamp, A. P.] Epilepsy Ctr Kempenhaeghe, Heeze, Netherlands.
[Aldenkamp, A. P.] Maastricht Univ, Univ Technol, Fac Elect Engn, Dept Neurol,Med Ctr, Eindhoven, Netherlands.
[Baker, G. A.] Univ Liverpool, Div Neurosci, Liverpool L69 3BX, Merseyside, England.
[Mazarati, A.; Sankar, R.] Univ Calif Los Angeles, David Geffen Sch Med, Div Neurol, Dept Pediat, Los Angeles, CA 90095 USA.
[Ryvlin, Ph.] Univ Lyon 1, Hosp Civils Lyon, Inst Epilepsies Enfant & Adolescent,INSERM U821, Dept Funct Neurol & Epileptol,Neurol Hosp,CTRS IN, F-69365 Lyon, France.
RP Helmstaedter, C (reprint author), Univ Clin Epileptol Bonn, Sigmund Freud Str 25, D-53105 Bonn, Germany.
EM C.Helmstaedter@uni-bonn.de
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NR 82
TC 12
Z9 12
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 FEB
PY 2014
VL 31
BP 43
EP 47
DI 10.1016/j.yebeh.2013.11.010
PG 5
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA 296NV
UT WOS:000330192700010
PM 24333577
ER
PT J
AU Villeneuve, N
Laguitton, V
Viellard, M
Lepine, A
Chabrol, B
Dravet, C
Milh, M
AF Villeneuve, Nathalie
Laguitton, Virginie
Viellard, Marine
Lepine, Anne
Chabrol, Brigitte
Dravet, Charlotte
Milh, Mathieu
TI Cognitive and adaptive evaluation of 21 consecutive patients with Dravet
syndrome
SO EPILEPSY & BEHAVIOR
LA English
DT Article
DE Dravet syndrome; Cognitive evaluation; Epilepsy; SCN1A
ID SEVERE MYOCLONIC EPILEPSY; SCN1A MUTATIONS; NATURAL-HISTORY; CHILDREN;
INFANCY; MULTICENTER; NETWORKS; SEIZURES; FEATURES; AUTISM
AB In order to assess the cognitive and adaptive profiles of school-aged patientswith Dravet syndrome (DS), we proposed to evaluate the intelligence and adaptive scores in twenty-one 6- to 10-year-old patientswith DS followed in our institution between 1997 and 2013. Fourteen patients were tested using the Wechsler Intelligence Scale for Children (WISC) and the Vineland Adaptive Behavioral Scales (VABS); 6 patients could not be tested with the WISC and were tested with the VABS only, and one was tested with the WISC only. Data regarding the epilepsy were retrospectively collected. Statistical analysis (Spearman rank order and Pearson correlation coefficient) was used to correlate early epilepsy characteristics with the cognitive and adaptive scores.
Sodium channel, neuronal alpha-subunit type 1 (SCN1A) was mutated in 19 out of 21 patients. After the age of 6 years, none of the DS patients had a normal intelligence quotient (IQ) using WISC (age at the testing period: mean = 100 +/- 5; median = 105 months; mean total IQ = 47 +/- 3; n = 15). Only five patients had a verbal and/or a non verbal IQ of more than 60 (points). Their cognitive profile was characterized by an attention deficit, an inability to inhibit impulsive responses, perseverative responses and deficit in planning function. Administering the Vineland Adaptive Behavioral Scales in the same period, we showed that socialization skills were significantly higher than communication and autonomy skills (age at the testing period: mean = 100 +/- 4; median = 100 months; n = 20).
We did not find any significant correlation between the IQ or developmental quotient assessed between 6 and 10 years of age and the quantitative and qualitative parameters of epilepsy during the first two years of life in this small group of patients.
Despite an overall moderate cognitive deficit in this group of patients, the Vineland Adaptive Behavioral Scales described an adaptive/behavioral profile with low communication and autonomy capacities, whereas the socialization skills were more preserved. This profile was different from the one usually found in young patients with autism and may require specific interventions. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Villeneuve, Nathalie; Laguitton, Virginie; Lepine, Anne] Hop Henri Gastaut Ctr St Paul, CINAPSE, F-13009 Marseille, France.
[Villeneuve, Nathalie; Viellard, Marine] Hop St Marguerite, Ctr Ressource Autisme, F-13009 Marseille, France.
[Villeneuve, Nathalie; Lepine, Anne; Chabrol, Brigitte; Milh, Mathieu] Hop Enfants La Timone, Serv Neurol Pediat, APHM, F-13005 Marseille, France.
[Dravet, Charlotte] Catholic Univ, Rome, Italy.
[Milh, Mathieu] Univ Aix Marseille, UMR 910, INSERM, F-13005 Marseille, France.
RP Milh, M (reprint author), Hop Enfants La Timone, Serv Neurol Pediat, 264 Rue St Pierre, F-13005 Marseille, France.
FU INSERM contrat interface
FX MM is funded by INSERM contrat interface.
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NR 34
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 1525-5050
EI 1525-5069
J9 EPILEPSY BEHAV
JI Epilepsy Behav.
PD FEB
PY 2014
VL 31
BP 143
EP 148
DI 10.1016/j.yebeh.2013.11.021
PG 6
WC Behavioral Sciences; Clinical Neurology; Psychiatry
SC Behavioral Sciences; Neurosciences & Neurology; Psychiatry
GA 296NV
UT WOS:000330192700030
PM 24412860
ER
PT J
AU Milacic-Vidojevic, I
Gligorovic, M
Dragojevic, N
AF Milacic-Vidojevic, Ivona
Gligorovic, Milica
Dragojevic, Nada
TI Tendency towards stigmatization of families of a person with autistic
spectrum disorders
SO INTERNATIONAL JOURNAL OF SOCIAL PSYCHIATRY
LA English
DT Article
DE Autistic spectrum disorder; family stigma; attitudes towards persons
with disabilities
ID SEVERE MENTAL-ILLNESS; COURTESY STIGMA; SCHIZOPHRENIA; MEMBERS; PEOPLE;
INDIVIDUALS; ATTITUDES; RELATIVES; CHILDREN; DISEASE
AB Background: Family members experience stigma via their connection with the affected member. Family stigma contains stereotypes of blame, shame and contamination.
Aim: To establish the tendency towards stigmatization of family members of a person with autistic spectrum disorders (ASD) by a sample of the general public of Belgrade.
Methods: The sample encompassed 181 participants, of various ages and levels of education, and of different, self-assessed levels of knowledge about autism. The structure of stigmatization of family members of a person with ASD was explored applying the Family Stigma Questionnaire (FSQ) and the Level of Familiarity Questionnaire (LFQ).
Results: Analysis of the obtained results established that scores indicating the tendency towards stigmatization were most pronounced for variables connected to blame for deterioration of the condition of the person with autism, contamination of the individual family members by the condition, and to feeling pity for family members of a person with ASD. Statistically significant differences were established when the FSQ scores stigmatizing parents and siblings were compared. Significant differences in stigmatizing stereotypes were established according to gender and level of education, and according to the self-assessment of knowledge about autism and the level of previous contact to persons with mental disorders.
Conclusion: Anti-stigma programmes are important especially bearing in mind that participants who self-evaluated as having the least knowledge about ASD demonstrated the highest tendency towards stigmatizing the parents of a person suffering from ASD, and those of lower education demonstrated the highest tendency towards stigmatizing the family members.
C1 [Milacic-Vidojevic, Ivona; Gligorovic, Milica; Dragojevic, Nada] Univ Belgrade, Fac Special Educ & Rehabil, Belgrade 11000, Serbia.
RP Milacic-Vidojevic, I (reprint author), Univ Belgrade, Fac Special Educ & Rehabil, Visokog Stevana 2, Belgrade 11000, Serbia.
EM mivona@sbb.rs
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NR 36
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 0020-7640
EI 1741-2854
J9 INT J SOC PSYCHIATR
JI Int. J. Soc. Psychiatr.
PD FEB
PY 2014
VL 60
IS 1
BP 63
EP 70
DI 10.1177/0020764012463298
PG 8
WC Psychiatry
SC Psychiatry
GA 294CJ
UT WOS:000330019700008
PM 23117824
ER
PT J
AU Rance, G
Saunders, K
Carew, P
Johansson, M
Tan, J
AF Rance, Gary
Saunders, Kerryn
Carew, Peter
Johansson, Marlin
Tan, Johanna
TI The Use of Listening Devices to Ameliorate Auditory Deficit in Children
with Autism
SO JOURNAL OF PEDIATRICS
LA English
DT Article
ID BRAIN-STEM RESPONSES; SPECTRUM DISORDERS; HYPERACTIVITY DISORDER;
DIAGNOSTIC INTERVIEW; FM SYSTEMS; SPEECH; NOISE; INDIVIDUALS; HEARING;
ATTENTION
AB Objectives To evaluate both monaural and binaural processing skills in a group of children with autism spectrum disorder (ASD) and to determine the degree to which personal frequency modulation (radio transmission) (FM) listening systems could ameliorate their listening difficulties.
Study design Auditory temporal processing (amplitude modulation detection), spatial listening (integration of binaural difference cues), and functional hearing (speech perception in background noise) were evaluated in 20 children with ASD. Ten of these subsequently underwent a 6-week device trial in which they wore the FM system for up to 7 hours per day.
Results Auditory temporal processing and spatial listening ability were poorer in subjects with ASD than in matched controls (temporal: P = .014 [ 95% CI -6.4 to -0.8 dB], spatial: P = .003 [1.0 to 4.4 dB]), and performance on both of these basic processing measures was correlated with speech perception ability (temporal: r = -0.44, P = .022; spatial: r = -0.50, P = .015). The provision of FM listening systems resulted in improved discrimination of speech in noise (P < .001 [11.6% to 21.7%]). Furthermore, both participant and teacher questionnaire data revealed device-related benefits across a range of evaluation categories including Effect of Background Noise (P = .036 [-60.7% to -2.8%]) and Ease of Communication (P = .019 [-40.1% to -5.0%]). Eight of the 10 participants who undertook the 6-week device trial remained consistent FM users at study completion.
Conclusions Sustained use of FM listening devices can enhance speech perception in noise, aid social interaction, and improve educational outcomes in children with ASD.
C1 [Rance, Gary; Carew, Peter; Tan, Johanna] Univ Melbourne, Dept Audiol & Speech Pathol, Melbourne, Vic, Australia.
[Saunders, Kerryn] Monash Univ, Sch Med Nursing & Hlth Sci, Melbourne, Vic 3004, Australia.
[Johansson, Marlin] Lund Univ, Sch Med, Dept Audiol, Lund, Sweden.
RP Rance, G (reprint author), Univ Melbourne, Dept Audiol & Speech Pathol, 550 Swanston St, Parkville, Vic 3010, Australia.
EM grance@unimelb.edu.au
FU Jack Brockhoff Foundation; Collier Foundation; Deafness Foundation
FX Funded by the Jack Brockhoff Foundation, the Collier Foundation, and the
Deafness Foundation. PHONAK.org donated the FM devices. The authors
declare no conflicts of interest.
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NR 32
TC 0
Z9 1
PU MOSBY-ELSEVIER
PI NEW YORK
PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0022-3476
EI 1097-6833
J9 J PEDIATR-US
JI J. Pediatr.
PD FEB
PY 2014
VL 164
IS 2
BP 352
EP 357
DI 10.1016/j.jpeds.2013.09.041
PG 6
WC Pediatrics
SC Pediatrics
GA 295NN
UT WOS:000330122900027
PM 24183205
ER
PT J
AU Abdolmaleky, HM
Nohesara, S
Ghadirivasfi, M
Lambert, AW
Ahmadkhaniha, H
Ozturk, S
Wong, CK
Shafa, R
Mostafavi, A
Thiagalingam, S
AF Abdolmaleky, Hamid Mostafavi
Nohesara, Shabnam
Ghadirivasfi, Mohammad
Lambert, Arthur W.
Ahmadkhaniha, Hamidreza
Ozturk, Sait
Wong, Chen Khuan
Shafa, Rahim
Mostafavi, Ashraf
Thiagalingam, Sam
TI DNA hypermethylation of serotonin transporter gene promoter in drug
naive patients with schizophrenia
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Serotonin transporter; DNA methylation; Brain; Saliva; Schizophrenia
ID MB-COMT PROMOTER; BIPOLAR DISORDER; T102C POLYMORPHISM; MAJOR
DEPRESSION; RISK-FACTOR; METAANALYSIS; ASSOCIATION; HYPOMETHYLATION;
MICE; NOREPINEPHRINE
AB Introduction: Dysfunctional serotonin signaling has been linked to the pathogenesis of autism, obsessive compulsive disorder, mood disorders and schizophrenia. While the hypo-activity of serotonin signaling is involved in the pathogenesis of depression, anxiety and obsessive compulsive disorder; LSD, an agonist of serotonin type 2 receptor (5-HTR2A) induces psychosis. Therefore, anxiety and depressive disorders are treated by SSRIs which inhibit serotonin transporter (5-HTT) while psychotic disorders are controlled by drugs that block serotonin and/or dopamine receptors. Since genetic polymorphisms and epigenetic dysregulation of 5-HTT are involved in the pathogenesis of mental diseases, we analyzed DNA methylation of 5-HTT promoter in post-mortem brains and saliva samples of patients with schizophrenia (SCZ) and bipolar disorder (BD) to evaluate its potential application as a diagnostic and/or therapeutic biomarker in SCZ and BD.
Methods: Whole genome DNA methylation profiling was performed for a total of 24 samples (including two saliva samples) using the Illumina 27 K (for 12 samples) and 450 K DNA methylation array platform(for another 12 samples), followed by bisulfite sequencing to identify candidate CpGs for further analysis. Quantitative methylation specific PCR (qMSP) was used to assess the degree of CpG methylation of 5-HTT promoter in 105 post-mortem brains (35 controls, 35 SCZ and 35 BD) and 100 saliva samples (30 controls, 30 SCZ, 20 BD and 20 first degree relatives of SCZ or BD). The U133 2.0 Plus Human Transcriptome array for a total of 30 post-mortem brain samples (each group 10) followed by quantitative real-time PCR was used to study 5-HTT expression in 105 post-mortem brain samples.
Results: The qMSP analysis for 5-HTT promoter region showed DNA hypermethylation in post-mortem brain samples of SCZ patients (similar to 30%), particularly in drug free patients (similar to 60%, p = 0.04). Similarly, there was a trend for DNA hypermethylation in antipsychotic free BD patients (similar to 50%, p = 0.066). qMSP analysis of DNA extracted from the saliva samples also exhibited hypermethylation of 5-HTT promoter in patients with SCZ (similar to 30%, p = 0.039), which was more significant in drug naive SCZ patients (>50%, p = 0.0025). However, the difference was not significant between the controls and unaffected first degree relatives of patients with SCZ (p = 0.37) and versus patients using antipsychotic drugs (p = 0.2). The whole genome transcriptome analysis of post-mortem brain samples showed reduced expression of 5-HTT in SCZ compared to the control subjects (similar to 50%, p = 0.008), confirmed by quantitative real-time PCR analysis (similar to 40%, p = 0.035) which was more significant in drug free SCZ patients (similar to 70%, p = 0.022).
Conclusion: A correlation between reduction in 5-HTT expression and DNA hypermethylation of the 5-HTT promoter in drug naive SCZ patients suggests that an epigenetically defined hypo-activity of 5-HTT may be linked to SCZ pathogenesis. Furthermore, this epigenetic mark in DNA extracted from saliva can be considered as one of the key determinants in a panel of diagnostic and/or therapeutic biomarkers for SCZ. (C) 2013 Elsevier B. V. All rights reserved.
C1 [Abdolmaleky, Hamid Mostafavi; Lambert, Arthur W.; Ozturk, Sait; Wong, Chen Khuan; Thiagalingam, Sam] Boston Univ, Sch Med, Dept Med, Biomed Genet Sect, Boston, MA 02118 USA.
[Abdolmaleky, Hamid Mostafavi; Lambert, Arthur W.; Ozturk, Sait; Wong, Chen Khuan; Thiagalingam, Sam] Boston Univ, Sch Med, Dept Genet & Genom, Boston, MA 02118 USA.
[Thiagalingam, Sam] Boston Univ, Sch Med, Dept Pathol & Lab Med, Boston, MA 02118 USA.
[Abdolmaleky, Hamid Mostafavi; Ozturk, Sait; Wong, Chen Khuan; Thiagalingam, Sam] Boston Univ, Sch Med, Genome Sci Inst, Boston, MA 02118 USA.
[Nohesara, Shabnam; Ghadirivasfi, Mohammad; Ahmadkhaniha, Hamidreza] Iran Univ Med Sci, Dept Psychiat, Mental Hlth Res Ctr, Tehran, Iran.
[Shafa, Rahim] Metrowest CNS Res Ctr, Natick, MA USA.
[Mostafavi, Ashraf] Arian Salamat Counseling & Nursing Cervices Ctr, Tehran, Iran.
RP Abdolmaleky, HM (reprint author), Boston Univ, Sch Med, Dept Med, Biomed Genet Sect, Boston, MA 02118 USA.
FU Mental Health Research Center; TUMS; NARSAD Independent Investigator
Award; CTSI, Boston University (NIH CTSA) [UL1-TR00157]
FX This work was supported by a grant from the Mental Health Research
Center, TUMS, NARSAD Independent Investigator Award to Dr. Sam
Thiagalingam and CTSI, Boston University (NIH CTSA, UL1-TR00157).
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NR 41
TC 10
Z9 11
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 FEB
PY 2014
VL 152
IS 2-3
BP 373
EP 380
DI 10.1016/j.schres.2013.12.007
PG 8
WC Psychiatry
SC Psychiatry
GA 296MF
UT WOS:000330188500008
PM 24411530
ER
PT J
AU Magaud, E
Morvan, Y
Rampazzo, A
Alexandre, C
Willard, D
Gaillard, R
Kazes, M
Krebs, MO
AF Magaud, Emilie
Morvan, Yannick
Rampazzo, Alice
Alexandre, Charlotte
Willard, Dominique
Gaillard, Raphael
Kazes, Mathilde
Krebs, Marie-Odile
TI Subjects at Ultra High Risk for psychosis have 'heterogeneous'
intellectual functioning profile: A multiple-case study
SO SCHIZOPHRENIA RESEARCH
LA English
DT Article
DE Adolescents; Early detection; High functioning; Intelligence;
Neuropsychological; Schizophrenia
ID NEUROPSYCHOLOGICAL DEFICITS; NEUROCOGNITIVE PERFORMANCE; PRODROMAL
SCHIZOPHRENIA; INDIVIDUALS; MEMORY; ONSET; COGNITION; ILLNESS; AUTISM;
STATE
AB In Ultra High Risk (UHR) studies, intellectual functioning is commonly assessed using premorbid IQ tools as a covariate. The aim of this study was to show that the use of the Wechsler Adult Intelligence Scale (WAIS) could yield accurate neuropsychological profiling and that an alternative approach such as a multiple-case study could be a more interesting way to isolate discrete cognitive processes in the early stage of illness.
The studied population consisted of 198 adolescents and young adults (16-30 y.o.) referred to our outpatient clinic. After the CAARMS' interview, we defined 3 subgroups: UHR (N = 104), First Episode (FE; N = 30), and Help-Seekers (HS; N = 64) who were neither UHR nor psychotic. Intellectual functioning was assessed by the WAIS-III (9 subtests version) and 'heterogeneous' intellectual profiles were defined based on the existence of a 3-point difference in scoring at subtests constitutive of the same WAIS index.
While UHR did not differ from FE or HS on WAIS' scores and sub-scores, the multiple-case study indicated a higher proportion of 'heterogeneous' profiles in the Verbal Comprehension Index in the UHR sample than in FE and HS (p = 0.04).
The disease progression could heterogeneously impact on specific domains, in patterns depending on the stage of the illness. This approach exploring intra-subject WAIS performances might be more relevant than the use of global scores in detecting the subtle cognitive alteration of emerging psychosis. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Magaud, Emilie; Morvan, Yannick; Rampazzo, Alice; Alexandre, Charlotte; Willard, Dominique; Gaillard, Raphael; Krebs, Marie-Odile] Univ Paris 05, PRES Paris Sorbonne Cite, Lab Physiopathol Malad Psychiat, INSERM,Ctr Psychiat & Neurosci, Paris, France.
[Magaud, Emilie; Rampazzo, Alice; Alexandre, Charlotte; Willard, Dominique; Gaillard, Raphael; Kazes, Mathilde; Krebs, Marie-Odile] Hop St Anne, Ctr Evaluat Jeunes Adultes & Adolescents CJAAD, Serv Hosp Univ, Fac Med Paris Descartes, F-75674 Paris, France.
[Morvan, Yannick] Univ Reims, Lab Cognit, C2S, EA6291, F-51100 Reims, France.
RP Magaud, E (reprint author), Univ Calgary, Mathison Ctr Mental Hlth Res & Educ, 3280 Hosp Dr NW, Calgary, AB T2N 4Z6, Canada.
EM emagaud@ucalgary.ca
FU Fondation MGEN (Mire-Dress funding); Inserm Collaborative Network
"Transition" (Inserm grant); PHRC National AOM ICAAR [07-118]; Fondation
Deniker and Hopital Sainte-Anne, Paris, FRANCE
FX This study was supported by the following: Fondation MGEN (Mire-Dress
funding); Inserm Collaborative Network "Transition" (Inserm grant); PHRC
National AOM ICAAR 07-118; and Fondation Deniker and Hopital
Sainte-Anne, Paris, FRANCE. These organizations had no further 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 paper for
publication.
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NR 38
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0920-9964
EI 1573-2509
J9 SCHIZOPHR RES
JI Schizophr. Res.
PD FEB
PY 2014
VL 152
IS 2-3
BP 415
EP 420
DI 10.1016/j.schres.2013.11.002
PG 6
WC Psychiatry
SC Psychiatry
GA 296MF
UT WOS:000330188500013
PM 24365404
ER
PT J
AU Kuenssberg, R
Murray, AL
Booth, T
McKenzie, K
AF Kuenssberg, Renate
Murray, Aja L.
Booth, Tom
McKenzie, Karen
TI Structural validation of the abridged Autism Spectrum Quotient-Short
Form in a clinical sample of people with autism spectrum disorders
SO AUTISM
LA English
DT Article
DE Autism Spectrum Quotient; confirmatory factor analysis; psychometric
evaluation
ID HIGH-FUNCTIONING AUTISM; SEX-DIFFERENCES; AQ; ADULTS; RELIABILITY;
VALIDITY
AB The primary aim of this article was to provide a structural validation of the 28-item Autism Spectrum Quotient-Short Form questionnaire in a sample of adults with clinically diagnosed autism spectrum disorders (n = 148). Confirmatory factor analysis demonstrated that the proposed structure, comprising a second-order Social Skills factor subsuming first-order factors of Social Skills, Routine, Switching and Imagination, and a Numbers/Patterns factor showed good acceptable fit to the data ((2) = 464.27(345), p < .05; comparative fit index = .91; Tucker Lewis index = .90; root mean squared error of approximation = .048; weighted root mean square residual = 0.98). Summed mean scores for the total sample, and males and females separately, showed no significant differences to previously reported means, with the exception of Numbers/Patterns, for which the current sample reported significantly lower means in both males (t = 3.37, p < 0.001) and females (t = 2.33, p < 0.05). The results provide support for both the proposed structure of the AQ-S and the stability of total and subscale mean scores in different samples of participants with autism spectrum disorder diagnoses.
C1 [Kuenssberg, Renate] NHS Fife, Kirkcaldy, Fife, Scotland.
[Murray, Aja L.; Booth, Tom; McKenzie, Karen] Univ Edinburgh, Edinburgh EH8 9JZ, Midlothian, Scotland.
RP Murray, AL (reprint author), Univ Edinburgh, Dept Psychol, 7 George Sq, Edinburgh EH8 9JZ, Midlothian, Scotland.
EM s0785823@sms.ed.ac.uk
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Yu C. Y., 2002, THESIS U CALIFORNIA
NR 26
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 69
EP 75
DI 10.1177/1362361312467708
PG 7
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500002
PM 23188884
ER
PT J
AU Wiggins, LD
Piazza, V
Robins, DL
AF Wiggins, Lisa D.
Piazza, Vivian
Robins, Diana L.
TI Comparison of a broad-based screen versus disorder-specific screen in
detecting young children with an autism spectrum disorder
SO AUTISM
LA English
DT Article
DE autism; Modified Checklist for Autism in Toddlers; Parents Evaluation of
Developmental Status; screening
ID PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; PRIMARY-CARE;
RELIABILITY; DIAGNOSIS; TODDLERS; SAMPLE; TIME
AB The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in Toddlers or Parents Evaluation of Developmental Status but were later diagnosed with autism spectrum disorder. Participants were administered the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status during well-child visits. Families were invited for a clinical evaluation if autism spectrum disorder symptoms were noted on the Modified Checklist for Autism in Toddlers and Modified Checklist for Autism in Toddlers Follow-Up Interview or if autism spectrum disorder concerns were noted by the pediatrician. Fifty-two children completed the Modified Checklist for Autism in Toddlers, Parents Evaluation of Developmental Status, and a clinical evaluation, and 30 of these children were diagnosed with an autism spectrum disorder. Modified Checklist for Autism in Toddlers results showed higher agreement with autism spectrum disorder diagnosis than any individual Parents Evaluation of Developmental Status screen result, although the latter detected many children with other developmental concerns. Children who screened negative on the Modified Checklist for Autism in Toddlers or Parents Evaluation of Developmental Status but were diagnosed with autism spectrum disorder had concerns noted in sensory response and proto-declarative pointing that can be considered in the context of screen results. In sum, our findings support universal autism spectrum disorder-specific screening in addition to general developmental screening and offer considerations to encourage early identification of toddlers with autism spectrum disorder.
C1 [Wiggins, Lisa D.; Piazza, Vivian; Robins, Diana L.] Georgia State Univ, Atlanta, GA 30333 USA.
RP Wiggins, LD (reprint author), Georgia State Univ, Dept Psychol, 1600 Clifton Rd MS E-86, Atlanta, GA 30333 USA.
EM lwiggins@cdc.gov
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NR 30
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 FEB
PY 2014
VL 18
IS 2
BP 76
EP 84
DI 10.1177/1362361312466962
PG 9
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500003
PM 23262658
ER
PT J
AU Grzadzinski, RL
Luyster, R
Spencer, AG
Lord, C
AF Grzadzinski, Rebecca L.
Luyster, Rhiannon
Spencer, Amelia Gunn
Lord, Catherine
TI Attachment in young children with autism spectrum disorders: An
examination of separation and reunion behaviors with both mothers and
fathers
SO AUTISM
LA English
DT Article
DE Autism Spectrum Disorders; Attachment; parents; fathers
ID DIAGNOSTIC OBSERVATION SCHEDULE; PERVASIVE DEVELOPMENTAL DISORDERS;
HIGH-FUNCTIONING AUTISM; PARENTAL SENSITIVITY; MENTAL-RETARDATION; 2ND
YEAR; MECHANISMS; SECURITY; FAMILIES; QUALITY
AB Most studies examining attachment in children with autism spectrum disorder used a strange situation paradigm and have found few significant group differences between children with autism spectrum disorder and comparisons. However, these studies predominantly used formal attachment categorizations (e.g. secure vs insecure), a method that may obscure more nuanced differences between groups. In this study, we utilized a qualitative approach to examine attachment behaviors in young children with autism spectrum disorder. Based on the results of previous studies, we looked at (a) parental gender, (b) child diagnosis, and (c) child cognitive skills to examine the role of these three factors on attachment behaviors elicited during a modified strange situation paradigm. Participants were 2- to 3-year-old children with autism spectrum disorder (n = 166) or nonspectrum disorders (n = 45), as well as a sample of 56 children with typical development. Over the three groups, 393 observations of a modified strange situation paradigm with mothers and 127 observations with fathers were collected. Parental gender, child diagnosis, and child cognitive skills each had significant main effects on attachment behaviors elicited during reunion. These results underscore the importance of the father's role in parent-child interactions, with implications for both clinical and research efforts. In addition, the results emphasize the importance of considering a child's diagnosis and cognitive skills when examining attachment behaviors.
C1 [Grzadzinski, Rebecca L.; Lord, Catherine] Weill Cornell Med Coll, White Plains, NY 10605 USA.
[Grzadzinski, Rebecca L.; Lord, Catherine] New York Presbyterian Hosp, White Plains, NY 10605 USA.
[Grzadzinski, Rebecca L.] Columbia Univ, Teachers Coll, New York, NY 10027 USA.
[Luyster, Rhiannon] Emerson Coll, Boston, MA 02116 USA.
[Spencer, Amelia Gunn] Birmingham Southern Coll, Birmingham, AL USA.
RP Grzadzinski, RL (reprint author), Weill Cornell Med Coll, Ctr Autism & Dev Brain, 21 Bloomingdale Rd,Bard House, White Plains, NY 10605 USA.
EM rebecca.grzadzinski@gmail.com
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NR 57
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 FEB
PY 2014
VL 18
IS 2
BP 85
EP 96
DI 10.1177/1362361312467235
PG 12
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500004
PM 23223363
ER
PT J
AU Koterba, EA
Leezenbaum, NB
Iverson, JM
AF Koterba, Erin A.
Leezenbaum, Nina B.
Iverson, Jana M.
TI Object exploration at 6 and 9 months in infants with and without risk
for autism
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; motor development; object exploration
ID MANIPULATIVE EXPLORATION; LANGUAGE-DEVELOPMENT; SPECTRUM DISORDERS;
ATTENTION; CHILDREN; SIBLINGS; BEHAVIOR; DISENGAGEMENT; COMMUNICATION;
PERCEPTION
AB During the first year of life, infants spend substantial amounts of time exploring objects they encounter in their daily environments. Perceptuo-motor information gained through these experiences provides a foundation for later developmental advances in cognition and language. This study aims to examine developmental trajectories of visual, oral, and manual object exploration in infants with and without risk for autism spectrum disorder before the age of 1 year. A total of 31 infants, 15 of whom had an older sibling with autism and who were therefore at heightened risk for autism spectrum disorder, played with sounding and nonsounding rattles at 6 and 9 months of age. The results suggest that heightened-risk infants lag behind their low-risk peers in the exploration of objects. The findings are discussed in terms of how delays in object exploration in infancy may have cascading effects in other domains.
C1 [Koterba, Erin A.] Univ Tampa, Tampa, FL 33606 USA.
[Leezenbaum, Nina B.; Iverson, Jana M.] Univ Pittsburgh, Pittsburgh, PA 15260 USA.
RP Koterba, EA (reprint author), Univ Tampa, Dept Psychol, Box Q,401 W Kennedy Blvd, Tampa, FL 33606 USA.
EM ekoterba@ut.edu
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NR 43
TC 3
Z9 3
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 97
EP 105
DI 10.1177/1362361312464826
PG 9
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500005
PM 23175749
ER
PT J
AU Klusek, J
Losh, M
Martin, GE
AF Klusek, Jessica
Losh, Molly
Martin, Gary E.
TI Sex differences and within-family associations in the broad autism
phenotype
SO AUTISM
LA English
DT Article
DE autism; broad autism phenotype; endophenotype; gender; personality;
pragmatic language; sex
ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; FETAL
TESTOSTERONE; MULTIPLE-INCIDENCE; PERSONALITY-TRAITS; PARENTS; CHILDREN;
INDIVIDUALS; RELATIVES; LANGUAGE
AB While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype. This study examined this question and investigated patterns of co-occurrence of broad autism phenotype traits within families of individuals with autism. Pragmatic language and personality features of the broad autism phenotype were studied in 42 fathers and 50 mothers of individuals with autism using direct assessment tools used in prior family studies of the broad autism phenotype. Higher rates of aloof personality style were detected among fathers, while no sex differences were detected for other broad autism phenotype traits. Within individuals, pragmatic language features were associated with the social personality styles of the broad autism phenotype in mothers but not in fathers. A number of broad autism phenotype features were correlated within spousal pairs. Finally, the associations were detected between paternal broad autism phenotype characteristics and the severity of children's autism symptoms in all three domains (social, communication, and repetitive behaviors). Mother-child correlations were detected for aspects of communication only. Together, the findings suggest that most features of the broad autism phenotype express comparably in males and females and raise some specific questions about how such features might inform studies of the genetic basis of autism.
C1 [Klusek, Jessica; Martin, Gary E.] Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA.
[Klusek, Jessica; Martin, Gary E.] Univ N Carolina, Chapel Hill, NC USA.
[Losh, Molly] Northwestern Univ, Evanston, IL 60208 USA.
RP Losh, M (reprint author), Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, 2240 Campus Dr, Evanston, IL 60208 USA.
EM m-losh@northwestern.edu
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NR 56
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 106
EP 116
DI 10.1177/1362361312464529
PG 11
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500006
PM 23188882
ER
PT J
AU Zahorodny, W
Shenouda, J
Howell, S
Rosato, NS
Peng, B
Mehta, U
AF Zahorodny, Walter
Shenouda, Josephine
Howell, Sandra
Rosato, Nancy Scotto
Peng, Bo
Mehta, Uday
TI Increasing autism prevalence in metropolitan New Jersey
SO AUTISM
LA English
DT Article
DE autism; autism spectrum disorder prevalence; developmental disabilities
surveillance; epidemiology; New Jersey; population-based; public health
monitoring
ID PERVASIVE DEVELOPMENTAL DISORDERS; RARE DE-NOVO; SPECTRUM DISORDERS;
TOTAL POPULATION; COPY-NUMBER; TWIN PAIRS; CHILDREN; EPIDEMIOLOGY;
DIAGNOSIS; AGE
AB High baseline autism spectrum disorder prevalence estimates in New Jersey led to a follow-up surveillance. The objectives were to determine autism spectrum disorder prevalence in the year 2006 in New Jersey and to identify changes in the prevalence of autism spectrum disorder or in the characteristics of the children with autism spectrum disorder, between 2002 and 2006. The cohorts included 30,570 children, born in 1998 and 28,936 children, born in 1994, residing in Hudson, Union, and Ocean counties, New Jersey. Point prevalence estimates by sex, ethnicity, autism spectrum disorder subtype, and previous autism spectrum disorder diagnosis were determined. For 2006, a total of 533 children with autism spectrum disorder were identified, consistent with prevalence of 17.4 per 1000 (95% confidence interval = 15.9-18.9), indicating a significant increase in the autism spectrum disorder prevalence (p < 0.001), between 2002 (10.6 per 1000) and 2006. The rise in autism spectrum disorder was broad, affecting major demographic groups and subtypes. Boys with autism spectrum disorder outnumbered girls by nearly 5:1. Autism spectrum disorder prevalence was higher among White children than children of other ethnicities. Additional studies are needed to specify the influence of better awareness of autism spectrum disorder prevalence estimates and to identify possible autism spectrum disorder risk factors. More resources are necessary to address the needs of individuals affected by autism spectrum disorder.
C1 [Zahorodny, Walter; Rosato, Nancy Scotto] New Jersey Dept Hlth, Trenton, NJ USA.
[Shenouda, Josephine; Peng, Bo] Univ Med & Dent New Jersey, Newark, NJ 07103 USA.
[Howell, Sandra] New Jersey Dept Hlth & Senior Serv, Trenton, NJ USA.
[Mehta, Uday] Childrens Specialized Hosp, Mountainside, NJ USA.
RP Zahorodny, W (reprint author), Univ Med & Dent New Jersey, New Jersey Med Sch, Room F-570 MSB,185 South Orange Ave, Newark, NJ 07103 USA.
EM Zahorodn@umdnj.edu
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NR 40
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 FEB
PY 2014
VL 18
IS 2
BP 117
EP 126
DI 10.1177/1362361312463977
PG 10
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500007
PM 23203404
ER
PT J
AU Stronach, S
Wetherby, AM
AF Stronach, Sheri
Wetherby, Amy M.
TI Examining restricted and repetitive behaviors in young children with
autism spectrum disorder during two observational contexts
SO AUTISM
LA English
DT Article
DE autism spectrum disorder; naturalistic observation; repetitive
behaviors; restricted interests
ID DEVELOPMENTAL PROFILE; EARLY RECOGNITION; HOME VIDEOTAPES; FOLLOW-UP;
2ND YEAR; LIFE; AGE; COMMUNICATION; RELIABILITY; AGREEMENT
AB This prospective study of the FIRST WORDS (R) Project examined restricted and repetitive behaviors in a sample of 55 toddlers at a mean age of 20 months who were later diagnosed with autism spectrum disorder. Restricted and repetitive behaviors were coded using the Repetitive Movement and Restricted Interest Scales in two video-recorded observation methods-structured sampling procedures in a clinic and naturalistic everyday activities at home. Measures of restricted and repetitive behaviors were higher in the clinic setting than in the home observation, especially for behaviors involving object use. Repetitive movements with objects in the clinic predicted nonverbal developmental scores and Autism Diagnostic Observation Schedule social affect scores at later follow-up. In contrast, repetitive movements with objects at home significantly predicted later Autism Diagnostic Observation Schedule restricted and repetitive behaviors scores. These results support the utility of the Repetitive Movement and Restricted Interest Scales to detect restricted and repetitive behaviors in toddlers and suggest that observations of restricted and repetitive behaviors in clinic and home settings may provide unique and important diagnostic information for improving early detection of autism spectrum disorder.
C1 [Stronach, Sheri; Wetherby, Amy M.] Florida State Univ, Tallahassee, FL 32303 USA.
RP Stronach, S (reprint author), Florida State Univ, Coll Med, Autism Inst, 1940 North Monroe St Suite 72, Tallahassee, FL 32303 USA.
EM sts09@my.fsu.edu
CR American Psychiatric Association (APA), 2011, DIAGN STAT MAN MENT
(APA) APA, 2000, DIAGN STAT MAN MENT
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NR 37
TC 1
Z9 1
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 127
EP 136
DI 10.1177/1362361312463616
PG 10
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500008
PM 23175750
ER
PT J
AU Stanutz, S
Wapnick, J
Burack, JA
AF Stanutz, Sandy
Wapnick, Joel
Burack, Jacob A.
TI Pitch discrimination and melodic memory in children with autism spectrum
disorders
SO AUTISM
LA English
DT Article
DE absolute pitch; autism; melodic memory; pitch discrimination; visual
nonverbal reasoning ability
ID ABSOLUTE PITCH; PERCEPTION; INDIVIDUALS; PERFORMANCE; LANGUAGE; CONTOUR;
ABILITY; SPEECH; IMPAIRMENT; COMPONENTS
AB Background: Pitch perception is enhanced among persons with autism. We extended this finding to memory for pitch and melody among school-aged children.
Objective: The purpose of this study was to investigate pitch memory in musically untrained children with autism spectrum disorders, aged 7-13 years, and to compare it to that of age- and IQ-matched typically developing children.
Methods: The children were required to discriminate isolated tones in two differing contexts as well to remember melodies after a period of 1 week. The tasks were designed to employ both short- and long-term memory for music. For the pitch discrimination task, the children first had to indicate whether two isolated tones were the same or different when the second was the same or had been altered to be 25, 35, or 45 cents sharp or flat. Second, the children discriminated the tones within the context of melody. They were asked whether two melodies were the same or different when the leading tone of the second melody was the same or had been altered to be 25, 35, or 45 cents sharp or flat. Long-term memory for melody was also investigated, as the children attempted to recall four different two-bar melodies after 1 week.
Results: The children with autism spectrum disorders demonstrated elevated pitch discrimination ability in the single-tone and melodic context as well as superior long-term memory for melody. Pitch memory correlated positively with scores on measures of nonverbal fluid reasoning ability.
Conclusion: Superior short- and long-term pitch memory was found among children with autism spectrum disorders. The results indicate an aspect to cognitive functioning that may predict both enhanced nonverbal reasoning ability and atypical language development.
C1 [Stanutz, Sandy; Wapnick, Joel; Burack, Jacob A.] McGill Univ, Montreal, PQ H3A 2T5, Canada.
RP Stanutz, S (reprint author), 1105 Edward St, Manotick, ON K4M 1G8, Canada.
EM sandy.stanutz@mail.mcgill.ca
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NR 54
TC 5
Z9 5
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 FEB
PY 2014
VL 18
IS 2
BP 137
EP 147
DI 10.1177/1362361312462905
PG 11
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500009
PM 23150888
ER
PT J
AU Abu Kuwaik, G
Roberts, W
Zwaigenbaum, L
Bryson, S
Smith, IM
Szatmari, P
Modi, BM
Tanel, N
Brian, J
AF Abu Kuwaik, Ghassan
Roberts, Wendy
Zwaigenbaum, Lonnie
Bryson, Susan
Smith, Isabel M.
Szatmari, Peter
Modi, Bonnie M.
Tanel, Nadia
Brian, Jessica
TI Immunization uptake in younger siblings of children with autism spectrum
disorder
SO AUTISM
LA English
DT Article
DE autism; autism spectrum disorder; diphtheria-pertussis-tetanus-polio;
immunization; measles-mumps-rubella vaccine; younger siblings
ID MITOCHONDRIAL DYSFUNCTION; CAUSAL ASSOCIATION; VACCINATION; VACCINES;
MEASLES; MMR; PARENTS; MUMPS
AB Background: Parental concerns persist that immunization increases the risk of autism spectrum disorder, resulting in the potential for reduced uptake by parents of younger siblings of children with autism spectrum disorder (younger sibs).
Objective: To compare immunization uptake by parents for their younger child relative to their older child with autism spectrum disorder (proband) and controls.
Design: Immunization status was obtained for 98 younger sibs, 98 probands, and 65 controls.
Results: A significant group difference emerged for overall immunization status (Fisher's exact test = 62.70, p < .001). One or more immunizations in 59/98 younger sibs were delayed (47/98; 48%) or declined (12/98; 12.2%); immunizations were delayed in 16/98 probands (16.3%) and declined in only one. All controls were fully immunized, with only 6 (9.2%) delayed. Within the younger sibs group, 25/98 received an autism spectrum disorder diagnosis; 7 of whom (28%) were fully immunized. The rates of autism spectrum disorder diagnosis did not differ between immunized and nonimmunized younger sib groups, although small sample size limits interpretability of this result.
Conclusion: Parents who already have one child with autism spectrum disorder may delay or decline immunization for their younger children, potentially placing them at increased risk of preventable infectious diseases.
C1 [Abu Kuwaik, Ghassan; Roberts, Wendy; Brian, Jessica] Univ Toronto, Toronto, ON M5S 1A1, Canada.
[Abu Kuwaik, Ghassan; Roberts, Wendy; Modi, Bonnie M.] Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Roberts, Wendy; Brian, Jessica] Bloorview Res Inst, Toronto, ON, Canada.
[Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB T6G 2M7, Canada.
[Zwaigenbaum, Lonnie] Glenrose Rehabil Hosp, Edmonton, AB, Canada.
[Bryson, Susan; Smith, Isabel M.] Dalhousie Univ, Halifax, NS B3H 3J5, Canada.
[Bryson, Susan; Smith, Isabel M.] IWK Hlth Ctr, Halifax, NS, Canada.
[Szatmari, Peter] McMaster Univ, Hamilton, ON L8S 4L8, Canada.
[Tanel, Nadia; Brian, Jessica] Holland Bloorview Kids Rehab Hosp, Toronto, ON, Canada.
RP Brian, J (reprint author), Holland Bloorview Kids Rehab Hosp, Bloorview Res Inst, Toronto, ON, Canada.
EM jbrian@hollandbloorview.ca
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Canadian Paediatric Society, 2008, MMR VACC MYTHS FACTS
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NR 37
TC 0
Z9 0
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 148
EP 155
DI 10.1177/1362361312459111
PG 8
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500010
PM 23045216
ER
PT J
AU Pan, CY
AF Pan, Chien-Yu
TI Motor proficiency and physical fitness in adolescent males with and
without autism spectrum disorders
SO AUTISM
LA English
DT Article
DE adolescents; autism; motor proficiency; physical fitness
ID MOVEMENT SKILLS; ACTIVITY PATTERNS; BODY-COMPOSITION; CHILDREN;
COMPETENCE; EDUCATION; ADULTS; YOUTH
AB This study compared components of motor proficiency and physical fitness in adolescents with and without autism spectrum disorders, and assessed the associations between the two measures within each group. A total of 62 adolescent males with (n = 31) and without (n = 31) autism spectrum disorders aged 10-17 years completed the Bruininks-Oseretsky Test of Motor Proficiency (2nd ed.), the BROCKPORT Physical Fitness Test, and the bioelectrical impedance analysis. The main findings are as follows: (1) adolescents with autism spectrum disorders had significantly lower scores on all motor proficiency and fitness measures, except body composition, than adolescents without autism spectrum disorders and that (2) the types of associations between the two measures differed significantly across the groups. Specific interventions to maximize motor proficiency and physical fitness in adolescents with autism spectrum disorders are urgently needed.
C1 [Pan, Chien-Yu] Natl Kaohsiung Normal Univ, Kaohsiung 80201, Taiwan.
RP Pan, CY (reprint author), Natl Kaohsiung Normal Univ, Dept Phys Educ, 116 He Ping First Rd, Kaohsiung 80201, Taiwan.
EM chpan@nknucc.nknu.edu.tw
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NR 32
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 156
EP 165
DI 10.1177/1362361312458597
PG 10
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500011
PM 22987891
ER
PT J
AU Tonge, B
Brereton, A
Kiomall, M
Mackinnon, A
Rinehart, NJ
AF Tonge, Bruce
Brereton, Avril
Kiomall, Melissa
Mackinnon, Andrew
Rinehart, Nicole J.
TI A randomised group comparison controlled trial of 'preschoolers with
autism': A parent education and skills training intervention for young
children with autistic disorder
SO AUTISM
LA English
DT Article
DE autism; autism spectrum disorders; parent education; evidence-based;
preschoolers
ID DIAGNOSTIC INTERVIEW; DEVELOPMENTAL DELAY; SPECTRUM DISORDERS;
INDIVIDUALS; CHILDHOOD; SYMPTOMS; TODDLERS; PROGRAM; PEOPLE
AB Aim: To determine the effect of parent education on adaptive behaviour, autism symptoms and cognitive/language skills of young children with autistic disorder.
Method: A randomised group comparison design involving a parent education and counselling intervention and a parent education and behaviour management intervention to control for parent skills training and a control sample. Two rural and two metropolitan regions were randomly allocated to intervention groups (n = 70) or control (n = 35). Parents from autism assessment services in the intervention regions were randomly allocated to parent education and behaviour management (n = 35) or parent education and counselling (n = 35).
Results: Parent education and behaviour management resulted in significant improvement in adaptive behaviour and autism symptoms at 6 months follow-up for children with greater delays in adaptive behaviour. Parent education and behaviour management was superior to parent education and counselling. We conclude that a 20-week parent education programme including skills training for parents of young children with autistic disorder provides significant improvements in child adaptive behaviour and symptoms of autism for low-functioning children.
C1 [Tonge, Bruce; Brereton, Avril; Kiomall, Melissa; Rinehart, Nicole J.] Monash Univ, Clayton, Vic 3168, Australia.
[Mackinnon, Andrew] Univ Melbourne, Melbourne, Vic 3010, Australia.
RP Tonge, B (reprint author), Monash Univ, Fac Med Nursing & Hlth Sci, Sch Psychol & Psychiat, Monash Med Ctr, 246 Clayton Rd, Clayton, Vic 3168, Australia.
EM bruce.tonge@monash.edu
CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th
Australian Bureau of Statistics, 1997, AUSTR STAND CLASS OC
Barrett T, 2011, WIRES COMP STAT, V3, P260
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Brereton AV, 2002, J AM ACAD CHILD PSY, V41, P1369, DOI 10.1097/01.CHI.0000024838.94814.A5
Bryson SE, 2003, CAN J PSYCHIAT, V48, P506
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NR 45
TC 4
Z9 5
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 FEB
PY 2014
VL 18
IS 2
BP 166
EP 177
DI 10.1177/1362361312458186
PG 12
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500012
PM 22987897
ER
PT J
AU Tanidir, C
Mukaddes, NM
AF Tanidir, Canan
Mukaddes, Nahit M.
TI Referral pattern and special interests in children and adolescents with
Asperger syndrome: a Turkish referred sample
SO AUTISM
LA English
DT Article
DE Asperger syndrome; children; diagnosis; interests; referral
ID HIGH-FUNCTIONING AUTISM; DISORDER; OBSESSIONS; CHILDHOOD; DIAGNOSIS;
VALIDITY
AB Objectives: To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey.
Methods: This study includes 61 children and adolescents diagnosed with Asperger syndrome using strict DSM-IV criteria.
Results: The mean age at first referral was 7.9 whereas the mean age when Asperger syndrome was diagnosed was 9.9, which is compatible with other studies. The most frequent reasons for the first referral were attention deficits, hyperactivity, and academic failure, and the most common special interest area was electronic devicess, computer, and technical interests.
Conclusions: The types of special interests and referral reasons in our Asperger syndrome sample are very similar to the interest areas and referral reasons of individuals with Asperger syndrome from developed western countries indicating the universality of symptoms. It could be concluded that children and adolescents with Asperger syndrome may refer to mental health services with a variety of symptoms; therefore, it is important to make a detailed assessment of social difficulties especially in school-age children and adolescents for the differential diagnosis of Asperger syndrome.
C1 [Tanidir, Canan; Mukaddes, Nahit M.] Istanbul Univ, TR-34510 Istanbul, Turkey.
RP Tanidir, C (reprint author), Istanbul Univ, Istanbul Fac Med, Dept Child & Adolescent Psychiat, Enverpasa Cad Regnum Elitkent Sitesi 3B Daire 25, TR-34510 Istanbul, Turkey.
EM canantanidir@yahoo.com
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World Health Organization (WHO), 1992, ICD 10 INT CLASS DIS
NR 26
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 FEB
PY 2014
VL 18
IS 2
BP 178
EP 184
DI 10.1177/1362361312457716
PG 7
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500013
PM 22987894
ER
PT J
AU Rattaz, C
Ledesert, B
Masson, O
Ouss, L
Ropers, G
Baghdadli, A
AF Rattaz, Cecile
Ledesert, Bernard
Masson, Olivier
Ouss, Lisa
Ropers, Geraldine
Baghdadli, Amaria
TI Special education and care services for children, adolescents, and
adults with autism spectrum disorders in France: Families' opinion and
satisfaction
SO AUTISM
LA English
DT Article
DE autism; parental satisfaction; special education; health care; services
ID PARENT SATISFACTION; YOUNG-CHILDREN; INTERVENTION; VOICES
AB This study focused on parents' satisfaction with the special education and care services proposed to their child with autism spectrum disorders (ASD). Data were collected in three regions of France, using a questionnaire designed for the purpose of this study. Among the 530 families contacted, 212 filled in the questionnaire (response rate = 40.8%). Results showed that parents were globally satisfied with providers' involvement and motivation, but they felt they were not involved enough in their child's individualized program, that communication with providers was insufficient and that the services lacked ASD's specific tools and interventions. Among all families interviewed, parents of adolescents were the most unsatisfied and we hypothesized that this could be due to the specific issues regarding developmental changes and concern about the future at this period of life. Congruently with the literature, variables related to parental overall satisfaction were a regular communication with professionals, a specific, regularly updated individual program in which parents are associated, and specialized tools and interventions. The implications of these findings are discussed as well as future directions for clinicians to improve service delivery and allow the persons with ASD and their families to be more involved in the services.
C1 [Rattaz, Cecile; Ledesert, Bernard; Baghdadli, Amaria] Autism Resources Ctr, Montpellier, France.
[Rattaz, Cecile; Ledesert, Bernard; Baghdadli, Amaria] Univ Montpellier, Lab Epsylon, EA 4556, F-34295 Montpellier 5, France.
[Masson, Olivier] Autism Resources Ctr, Lille, France.
[Ouss, Lisa] Autism Resources Ctr, Paris, France.
[Ropers, Geraldine] Autism Resources Ctr, Besancon, France.
RP Rattaz, C (reprint author), CHRU Montpellier, Dept Univ Psychiat Enfant & Adolescent, Ctr Ressources Autisme Languedoc Roussillon, 291 Ave Doyen Giraud, F-34295 Montpellier 5, France.
EM c-rattaz@chu-montpellier.fr
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NR 20
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 FEB
PY 2014
VL 18
IS 2
BP 185
EP 193
DI 10.1177/1362361312460952
PG 9
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500014
PM 23045217
ER
PT J
AU Weitlauf, AS
Vehorn, AC
Taylor, JL
Warren, ZE
AF Weitlauf, Amy S.
Vehorn, Alison C.
Taylor, Julie L.
Warren, Zachary E.
TI Relationship satisfaction, parenting stress, and depression in mothers
of children with autism
SO AUTISM
LA English
DT Article
DE parents; depression; autism; relationship
ID SPECTRUM DISORDERS; YOUNG-ADULTS; IMPACT; WELL; SEVERITY
AB Mothers of children with autism report higher levels of depression than mothers of children with other developmental disabilities. We explored the relations between child characteristics of diagnostic severity and problem behaviors, parenting stress, relationship quality, and depressive symptoms in 70 mothers of young children with autism. We hypothesized that relationship quality and parenting stress would relate to maternal depression beyond contributions of child characteristics. Multiple regression analysis revealed a main effect of parenting stress above and beyond child problem behaviors and autism severity. A significant interaction emerged, with relationship quality buffering the effect of parenting stress on depression. Results suggest that the relation between child problem behaviors and maternal depression should be considered in conjunction with other measures of marriage and family stress. Relationship quality and parenting stress may also represent important factors to be explicitly considered within intervention paradigms for young children with autism spectrum disorders.
C1 [Weitlauf, Amy S.; Vehorn, Alison C.; Taylor, Julie L.; Warren, Zachary E.] Vanderbilt Univ, Nashville, TN 37203 USA.
RP Weitlauf, AS (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, TRIAD, PMB 74,230 Appleton Pl, Nashville, TN 37203 USA.
EM amy.s.weitlauf@vanderbilt.edu
CR Abidin RR, 1995, PARENTING STRESS IND
Achenbach TM, 2001, ACHENBACH CHILD BEHA
Benson PR, 2011, J AUTISM DEV DISORD, V41, P1675, DOI 10.1007/s10803-011-1198-9
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Sparrow S., 2005, VINELAND 2 ADAPTIVE, V2nd
Taylor JL, 2011, J AUTISM DEV DISORD, V42, P1411
Warren Z. E., 2011, AUTISM SPECTRUM DISO, P1269
NR 22
TC 2
Z9 2
PU SAGE PUBLICATIONS LTD
PI LONDON
PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND
SN 1362-3613
EI 1461-7005
J9 AUTISM
JI Autism
PD FEB
PY 2014
VL 18
IS 2
BP 194
EP 198
DI 10.1177/1362361312458039
PG 5
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500015
PM 22987895
ER
PT J
AU Tomeny, TS
Barry, TD
Bader, SH
AF Tomeny, Theodore S.
Barry, Tammy D.
Bader, Stephanie H.
TI Birth order rank as a moderator of the relation between behavior
problems among children with an autism spectrum disorder and their
siblings
SO AUTISM
LA English
DT Article
DE autism; autism spectrum disorder; behavior problems; birth order;
siblings
ID ADJUSTMENT; QUESTIONNAIRE; DISABILITIES; PDD
AB Variability within the literature investigating typically-developing siblings of children with an autism spectrum disorder suggests that the quality of sibling outcomes may depend on specific factors. For this study, 42 parents of a child with an autism spectrum disorder and a typically- developing sibling provided data via online questionnaires. Birth order rank of the child with an autism spectrum disorder significantly moderated the relation between externalizing behaviors in children with an autism spectrum disorder and externalizing behaviors in their typically-developing siblings. Children with an autism spectrum disorder and higher levels of behavior problems had typically-developing siblings with higher levels of behavior problems only when the child with an autism spectrum disorder was older. These results provide a hint of clarification about the complex nature of sibling relations, but a great deal more research is needed to further examine outcomes of typically-developing siblings of children with an autism spectrum disorder.
C1 [Tomeny, Theodore S.; Barry, Tammy D.] Univ So Mississippi, Hattiesburg, MS 39406 USA.
[Bader, Stephanie H.] Kennedy Krieger Inst, Baltimore, MD USA.
RP Barry, TD (reprint author), Univ So Mississippi, Dept Psychol, 118 Coll Dr,5025, Hattiesburg, MS 39406 USA.
EM tammy.barry@usm.edu
CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE
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NR 20
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 FEB
PY 2014
VL 18
IS 2
BP 199
EP 202
DI 10.1177/1362361312458185
PG 4
WC Psychology, Developmental
SC Psychology
GA 292SC
UT WOS:000329921500016
PM 23045222
ER
PT J
AU Kantak, PA
Bobrow, DN
Nyby, JG
AF Kantak, Pranish A.
Bobrow, Dylan N.
Nyby, John G.
TI Obsessive-compulsive-like behaviors in house mice are attenuated by a
probiotic (Lactobacillus rhamnosus GG)
SO BEHAVIOURAL PHARMACOLOGY
LA English
DT Article
DE fluoxetine; Lactobacillus rhamnosus; locomotor activity; mice; OCD; open
field; perseveration; probiotics; RU 24969; SRI
ID AUTISM SPECTRUM DISORDERS; ANXIETY-LIKE BEHAVIOR; GUT MICROBIOTA; BRAIN;
MOUSE; COMMUNICATION; FLUOXETINE; DEPRESSION; DIARRHEA; STRESS
AB Two experiments examined probiotic pretreatment (Lactobacillus rhamnosus GG) on obsessive-compulsive disorder (OCD)-like behavior induction by RU 24969 in BALB/cJ house mice. In the first experiment, two groups were defined by their daily pretreatment by oral gavage of either (a) L. rhamnosus (1x10(9) CFU/day) or (b) the saline vehicle. Both a 2- and 4-week probiotic pretreatment attenuated OCD-like behavior induction (increased perseverative open-field locomotion, stereotypic turning, and marble burying) relative to saline pretreatment. Experiment 2 re-examined the 2-week probiotic pretreatment while also comparing it to a 4-week fluoxetine pretreatment. Again, groups were defined by daily pretreatment of either (a) L. rhamnosus for 2 weeks, (b) the saline vehicle for 2 weeks, or (c) fluoxetine (10 mg/kg) for 4 weeks. Pretreatment by either L. rhamnosus or fluoxetine blocked the induction of OCD-like behavior compared with saline pretreatment. Thus the 2-week probiotic pretreatment was again effective. Although side effects of fluoxetine or L. rhamnosus on androgen-dependent behaviors could not be demonstrated, L. rhamnosus treatment appeared comparable to fluoxetine treatment in attenuating mouse OCD-like behaviors.
C1 [Kantak, Pranish A.; Bobrow, Dylan N.; Nyby, John G.] Lehigh Univ, Dept Biol Sci, Bethlehem, PA 18015 USA.
RP Nyby, JG (reprint author), Lehigh Univ, Dept Biol Sci, 111 Res Dr, Bethlehem, PA 18015 USA.
EM jgn2@lehigh.edu
FU Department of Biological Sciences; College of Arts and Sciences at
Lehigh University, Bethlehem, Pennsylvania
FX This research was supported by undergraduate research grants to P.A.K.
and D.N.B. from the Department of Biological Sciences and from the
College of Arts and Sciences at Lehigh University, Bethlehem,
Pennsylvania. The authors thank Dr Michael Kuchka and Jennifer Colquhoun
for assistance in bacterial culturing, and Carly Garrison, Maura
Heffernan, and Lynda Asadourian for assistance in behavioral data
collection. They also thank Dr Neville Alberto for his advice in the
development of this project. Finally, the authors thank three anonymous
reviewers and editor Jack Bergman for their helpful comments.
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NR 39
TC 2
Z9 2
PU LIPPINCOTT WILLIAMS & WILKINS
PI PHILADELPHIA
PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
SN 0955-8810
EI 1473-5849
J9 BEHAV PHARMACOL
JI Behav. Pharmacol.
PD FEB
PY 2014
VL 25
IS 1
BP 71
EP 79
DI 10.1097/FBP.0000000000000013
PG 9
WC Behavioral Sciences; Neurosciences; Pharmacology & Pharmacy
SC Behavioral Sciences; Neurosciences & Neurology; Pharmacology & Pharmacy
GA 291YM
UT WOS:000329868800008
PM 24257436
ER
PT J
AU Guerini, FR
Bolognesi, E
Chiappedi, M
Manca, S
Ghezzo, A
Agliardi, C
Zanette, M
Littera, R
Carcassi, C
Sotgiu, S
Clerici, M
AF Guerini, Franca R.
Bolognesi, Elisabetta
Chiappedi, Matteo
Manca, Salvatorica
Ghezzo, Alessandro
Agliardi, Cristina
Zanette, Michela
Littera, Roberto
Carcassi, Carlo
Sotgiu, Stefano
Clerici, Mario
TI Activating KIR molecules and their cognate ligands prevail in children
with a diagnosis of ASD and in their mothers
SO BRAIN BEHAVIOR AND IMMUNITY
LA English
DT Article
DE Killer cell immunoglobulin-like receptor; Kir genes; Human leukocyte
antigens; HLA ligands; Autism; Natural killer cells; Maternal immunity
ID AUTISM SPECTRUM DISORDERS; AUTOIMMUNE-DISEASES; RISK-FACTORS;
FETAL-BRAIN; HLA-B; AUTOANTIBODIES; RECOGNITION; ANTIBODIES; COMPLEX;
PROTEIN
AB The activity of natural killer (NK) cells is modulated by the interaction between killer-cell immune globulin-like receptor (KIR) proteins and their cognate HLA ligands; activated NK cells produce inflammatory cytokines and mediate innate immune responses. Activating KIR/HLA complexes (aKIR/HLA) were recently suggested to prevail in children with autism spectrum disorders (ASD), a neurodevelopmental syndrome characterized by brain and behavioral abnormalities and associated with a degree of inflammation. We verified whether such findings could be confirmed by analyzing two sample cohorts of Sardinian and continental Italian ASD children and their mothers. Results showed that aKIR/HLA are increased whereas inhibitory KIR/HLA complexes are reduced in ASD children; notably this skewing was even more significant in their mothers. KIR and HLA molecules are expressed by placental cells and by the trophoblast and their interactions result in immune activation and influence fetal, as well as central nervous system development and plasticity. Data herein suggest that in utero KIR/HLA immune interactions favor immune activation in ASD; this may play a role in the pathogenesis of the disease. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Guerini, Franca R.; Bolognesi, Elisabetta; Agliardi, Cristina; Zanette, Michela; Clerici, Mario] Fdn Don C Gnocchi, IRCCS, I-20148 Milan, Italy.
[Chiappedi, Matteo] C Mondino Natl Neurol Inst, Child Neurol & Psychiat Unit, Pavia, Italy.
[Manca, Salvatorica] Unit Neuropsychiat Infants & Adolescents UONPIA, Sassari, Italy.
[Ghezzo, Alessandro] Univ Bologna, Dept Expt Diagnost Specialty Med, Assoc Nazl Famiglie Persone Con Disabilita Intell, Macerata, Italy.
[Littera, Roberto; Carcassi, Carlo] R Binaghi Hosp, Reg Transplant Ctr, Cagliari, Italy.
[Carcassi, Carlo] Univ Cagliari, Dept Med Sci Mario Aresu, Cagliari, Italy.
[Sotgiu, Stefano] Univ Sassari, Dept Clin & Expt Med, Sect Child Neuropsychiat, I-07100 Sassari, Italy.
[Clerici, Mario] Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy.
RP Guerini, FR (reprint author), Fdn Don C Gnocchi, IRCCS S Maria Nascente, Lab Mol Med & Biotechnol, Via Capecelatro 66, I-20148 Milan, Italy.
EM fguerini@dongnocchi.it
FU Italian Ministry of Health
FX Supported by Ricerca Corrente 2011 and Ricerca Finalizzata 2009 [Italian
Ministry of Health].
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NR 43
TC 1
Z9 1
PU ACADEMIC PRESS INC ELSEVIER SCIENCE
PI SAN DIEGO
PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA
SN 0889-1591
EI 1090-2139
J9 BRAIN BEHAV IMMUN
JI Brain Behav. Immun.
PD FEB
PY 2014
VL 36
BP 54
EP 60
DI 10.1016/j.bbi.2013.10.006
PG 7
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA 293BJ
UT WOS:000329946100008
PM 24120931
ER
PT J
AU Ronconi, L
Basso, D
Gori, S
Facoetti, A
AF Ronconi, Luca
Basso, Demis
Gori, Simone
Facoetti, Andrea
TI TMS on Right Frontal Eye Fields Induces an Inflexible Focus of Attention
SO CEREBRAL CORTEX
LA English
DT Article
DE attentional scaling; frontal cortex; pervasive developmental disorder;
reading disorder; visual attention
ID TRANSCRANIAL MAGNETIC STIMULATION; VISUAL-SPATIAL ATTENTION;
EVENT-RELATED POTENTIALS; DEVELOPMENTAL DYSLEXIA; TOP-DOWN;
PHYSIOLOGICAL CORRELATE; VISUOSPATIAL ATTENTION; ZOOM LENS; SEARCH;
CORTEX
AB The focus of spatial attention can be not only oriented to a particular location, but also adjusted in its size to select visual information from a narrow (zoom-in) or broad (zoom-out) region of the visual field. Attentional orienting, saccades programming, and visual search have been linked to the frontal eye fields (FEF) activity. However, the FEF causal role in the frontoparietal network for the attentional focus size modulation remains unclear. Here, we delivered single-pulse transcranial magnetic stimulation (TMS) on FEF while participants performed an attentional zooming task. They were asked to detect a visual target appearing at 3 eccentricities from the fixation. Two cue types modulated the size of the attended region: a small cue was employed to narrow the attentional focus, whereas a large cue induced participants to broaden the attended region. Results showed that TMS delivered on the right FEF, but not on the left FEF, was able to interfere with both zoom-in and zoom-out attentional mechanisms. Our results provide the first evidence of the right FEF casual role in the attentional zooming control and give new insights into the neural mechanisms of dysfunctional spatial attention deployment shown in neurodevelopmental disorders, such as autism and dyslexia.
C1 [Ronconi, Luca; Gori, Simone; Facoetti, Andrea] Univ Padua, Dept Gen Psychol, Dev & Cognit Neurosci Lab, I-35131 Padua, Italy.
[Basso, Demis] Free Univ Bozen Bolzano, Fac Educ, Bolzano, Italy.
[Gori, Simone; Facoetti, Andrea] Sci Inst E Medea, Dev Neuropsychol Unit, Bosisio Parini, Lecco, Italy.
RP Facoetti, A (reprint author), Univ Padua, Dipartimento Psicol Gen, Via Venezia 8, I-35131 Padua, Italy.
EM andreafacoetti@unipd.it
RI Facoetti, Andrea/C-2876-2009
FU University of Padua; Ca.Ri.Pa.Ro Foundation
FX This work was supported by a grant from University of Padua ("Assegni di
Ricerca 2009 and 2011" to S.G. and "Progetto di Ateneo 2009 and 2011" to
A.F.) and Ca.Ri.Pa.Ro Foundation ("Progetto di Eccellenza 2011" to L.R.,
S.G. and A.F.).
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NR 54
TC 11
Z9 11
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 FEB
PY 2014
VL 24
IS 2
BP 396
EP 402
DI 10.1093/cercor/bhs319
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA 291PM
UT WOS:000329840900011
PM 23048022
ER
PT J
AU Roberts, JL
Hovanes, K
Dasouki, M
Manzardo, AM
Butler, MG
AF Roberts, Jennifer L.
Hovanes, Karine
Dasouki, Majed
Manzardo, Ann M.
Butler, Merlin G.
TI Chromosomal microarray analysis of consecutive individuals with autism
spectrum disorders or learning disability presenting for genetic
services
SO GENE
LA English
DT Article
DE Autism spectrum disorders (ASD); Developmental delay; Learning
disability; Chromosomal microarray analysis; Copy number variant (CNV)
ID LINKED INTELLECTUAL DISABILITY; COMPARATIVE GENOMIC HYBRIDIZATION;
SIBLINGS RESEARCH CONSORTIUM; GLOBAL DEVELOPMENTAL DELAY; COPY NUMBER
VARIANTS; OF-THE-LITERATURE; MENTAL-RETARDATION; BEHAVIORAL-PROBLEMS;
MOLECULAR CHARACTERIZATION; MICRODELETION SYNDROME
AB Chromosomal microarray analysis is now commonly used in clinical practice to identify copy number variants (CNVs) in the human genome. We report our experience with the use of the 105 K and 180 K oligonudeotide microarrays in 215 consecutive patients referred with either autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic services at the University of Kansas Medical Center during the past 4 years (2009-2012). Of the 215 patients [140 males and 75 females (male/female ratio = 1.87); 65 with ASD and 150 with learning disability], abnormal microarray results were seen in 45 individuals (21%) with a total of 49 CNVs. Of these findings, 32 represented a known diagnostic CNV contributing to the clinical presentation and 17 represented non-diagnostic CNVs (variants of unknown significance). Thirteen patients with ASD had a total of 14 CNVs, 6 CNVs recognized as diagnostic and 8 as non-diagnostic. The most common chromosome involved in the ASD group was chromosome 15. For those with a learning disability, 32 patients had a total of 35 CNVs. Twenty-six of the 35 CNVs were classified as a known diagnostic CNV, usually a deletion (n = 20). Nine CNVs were classified as an unknown non-diagnostic CNV, usually a duplication (n = 8). For the learning disability subgroup, chromosomes 2 and 22 were most involved. Thirteen out of 65 patients (20%) with ASD had a CNV compared with 32 out of 150 patients (21%) with a learning disability. The frequency of chromosomal microarray abnormalities compared by subject group or gender was not statistically different. A higher percentage of individuals with a learning disability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistically significant. While both groups contained more males than females, a significantly higher percentage of males were present in the ASD group. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Roberts, Jennifer L.; Manzardo, Ann M.; Butler, Merlin G.] Univ Kansas, Med Ctr, Dept Psychiat, Kansas City, KS 66160 USA.
[Roberts, Jennifer L.; Manzardo, Ann M.; Butler, Merlin G.] Univ Kansas, Med Ctr, Dept Behav Sci, Kansas City, KS 66160 USA.
[Roberts, Jennifer L.; Manzardo, Ann M.; Butler, Merlin G.] Univ Kansas, Med Ctr, Dept Pediat, Kansas City, KS 66160 USA.
[Hovanes, Karine] CombiMatrix Diagnost, Irvine, CA USA.
[Dasouki, Majed] Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA.
[Dasouki, Majed] King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia.
RP Butler, MG (reprint author), Univ Kansas, Med Ctr, Dept Psychiat & Behav Sci, 3901 Rainbow Blvd,MS 4015, Kansas City, KS 66160 USA.
EM mbutler4@kumc.edu
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NR 83
TC 6
Z9 6
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD FEB 1
PY 2014
VL 535
IS 1
BP 70
EP 78
DI 10.1016/j.gene.2013.10.020
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA 293CV
UT WOS:000329949900009
PM 24188901
ER
PT J
AU Cody, JD
Hasi, M
Soileau, B
Heard, P
Carter, E
Sebold, C
O'Donnell, L
Perry, B
Stratton, RF
Hale, DE
AF Cody, Jannine D.
Hasi, Minire
Soileau, Bridgette
Heard, Patricia
Carter, Erika
Sebold, Courtney
O'Donnell, Louise
Perry, Brian
Stratton, Robert F.
Hale, Daniel E.
TI Establishing a reference group for distal 18q-: clinical description and
molecular basis
SO HUMAN GENETICS
LA English
DT Article
ID COPY NUMBER VARIATION; DELETION SYNDROME; INDIVIDUALS; DISORDERS;
ANOMALIES; SPECTRUM; AUTISM
AB Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no two people having the same breakpoints. We identified 16 individuals with deletions that, despite unique breakpoints, encompass the same set of genes within a 17.6-Mb region. This group represents the most genotypically similar group yet identified with distal 18q deletions. As the deletion is of average size when compared with other 18q deletions, this group can serve as a reference point for the clinical and molecular description of this condition. We performed a thorough medical record review as well as a series of clinical evaluations on 14 of the 16 individuals. Common functional findings included developmental delays, hypotonia, growth hormone deficiency, and hearing loss. Structural anomalies included foot anomalies, ear canal atresia/stenosis, and hypospadias. The majority of individuals performed within the low normal range of cognitive ability but had more serious deficits in adaptive abilities. Of interest, the hemizygous region contains 38 known genes, 26 of which are sufficiently understood to tentatively determine dosage sensitivity. Published data suggest that 20 are unlikely to cause an abnormal phenotype in the hemizygous state and five are likely to be dosage sensitive: TNX3, NETO1, ZNF407, TSHZ1, and NFATC. A sixth gene, ATP9B, may be conditionally dosage sensitive. Not all distal 18q- phenotypes can be attributed to these six genes; however, this is an important advance in the molecular characterization of 18q deletions.
C1 [Cody, Jannine D.; Hasi, Minire; Soileau, Bridgette; Heard, Patricia; Carter, Erika; Sebold, Courtney; O'Donnell, Louise; Stratton, Robert F.; Hale, Daniel E.] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 78229 USA.
[Cody, Jannine D.] Chromosome 18 Registry & Res Soc, San Antonio, TX USA.
[O'Donnell, Louise] Univ Texas Hlth Sci Ctr San Antonio, Dept Psychiat, San Antonio, TX 78229 USA.
[Perry, Brian] Ear Med Grp, San Antonio, TX USA.
RP Cody, JD (reprint author), Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, 7703 Floyd Curl Dr, San Antonio, TX 78229 USA.
EM cody@uthscsa.edu
FU Chromosome 18 Registry and Research Society; MacDonald family; UTHSCSA,
Institute for the Integration of Medicine and Science [UL1TR000149
NCATS/NIH]
FX Foremost, the authors wish to thank the families who are participants in
the Chromosome 18 Clinical Research Center, for their ongoing commitment
to this work and to our shared vision of a smoother road for future
families. This work was primarily funded by the Chromosome 18 Registry
and Research Society and the MacDonald family. Additional support was
provided through the UTHSCSA, Institute for the Integration of Medicine
and Science (UL1TR000149 NCATS/NIH).
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NR 35
TC 3
Z9 3
PU SPRINGER
PI NEW YORK
PA 233 SPRING ST, NEW YORK, NY 10013 USA
SN 0340-6717
EI 1432-1203
J9 HUM GENET
JI Hum. Genet.
PD FEB
PY 2014
VL 133
IS 2
BP 199
EP 209
DI 10.1007/s00439-013-1364-6
PG 11
WC Genetics & Heredity
SC Genetics & Heredity
GA 288ZY
UT WOS:000329652000007
PM 24092497
ER
PT J
AU Camarata, S
AF Camarata, Stephen
TI Early identification and early intervention in autism spectrum
disorders: Accurate and effective?
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorder; early identification; early intervention;
autism spectrum disorder screening; autism spectrum disorder treatment
ID LANGUAGE COMPREHENSION; CHILDREN; DIAGNOSIS
AB Over the past decade, there has been increased interest in identifying autism and autism spectrum disorder (ASD) in toddlers. Although there is a strong rationale for identifying ASD early and delivering effective intervention, a recent report in the journal Pediatrics raises important questions about the scientific evidence currently available supporting early intervention. In addition, the British National Health Service (NHS) has not adopted universal screening for autism, even though the American (US) Academy of Pediatrics endorsed a recommendation that all toddlers be screened for ASD by the age of 24 months (in 2007). The goal of this initiative is to identify and, where indicated, provide early intervention for autism and ASD. Although it is inarguable that this is a worthwhile and laudable goal, the systematic study of this goal is confounded by the inherent difficulty in reliably identifying autism in 24-month-old toddlers. It is challenging to demonstrate intervention effects in the absence of randomly assigned control groups in an increasingly heterogeneous ASD population. The purpose of this paper is to examine the current literature on early identification and early intervention in autism and ASD and to provide a framework for examining these issues.
C1 [Camarata, Stephen] Vanderbilt Univ, Sch Med, Nashville, TN 37232 USA.
RP Camarata, S (reprint author), Vanderbilt Univ, Sch Med, Dept Hearing & Speech Sci, Nashville, TN 37232 USA.
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NR 53
TC 11
Z9 11
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 1
EP 10
DI 10.3109/17549507.2013.858773
PG 10
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900001
PM 24410017
ER
PT J
AU Volkmar, FR
Reichow, B
AF Volkmar, Fred R.
Reichow, Brian
TI Infants and toddlers with autism: The promise and the challenges
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; treatment; early intervention; screening;
diagnosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; DSM-5 DIAGNOSTIC-CRITERIA; SPECTRUM
DISORDERS; CHILDREN; INTERVENTION; SIBLINGS; IV
AB There has been a marked increase in interest in early identification of young children with and at risk for autism. This interest has reflected advances in research as well as an awareness of the potential for major changes in long-term outcome as a result of intervention. Several issues have complicated these efforts. There continue to be challenges to implementation of effective screening and diagnostic approaches in young children. Although the body of evidence-based research on treatment has increased, it remains limited. Despite these issues, important findings have emerged that may assist in fostering better approaches to screening, diagnosis, and documenting treatment impact.
C1 [Volkmar, Fred R.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
[Reichow, Brian] Univ Connecticut, Ctr Hlth, AJ Pappanikou Ctr Excellence Dev Disabil, Farmington, CT USA.
RP Volkmar, FR (reprint author), POB 207900, New Haven, CT 06520 USA.
EM fred.volkmar@yale.edu
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Yirmiya N, 2006, J CHILD PSYCHOL PSYC, V47, P511, DOI 10.1111/j.1469-7610.2005.01528.x
NR 39
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 11
EP 14
DI 10.3109/17549507.2013.862859
PG 4
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900002
PM 24345000
ER
PT J
AU Charman, T
AF Charman, Tony
TI Early identification and intervention in autism spectrum disorders: Some
progress but not as much as we hoped
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorder; early identification; early intervention;
screening; treatment; randomized controlled trials
ID RANDOMIZED CONTROLLED-TRIAL; MODIFIED CHECKLIST; JOINT ATTENTION;
YOUNG-CHILDREN; TODDLERS; RISK; PLAY
AB Camarata's (2014) review summarizes the progress that has been made in the field of early identification and early intervention in autism spectrum disorders (ASD) over the past few decades, but also provides a salutary reminder that much still needs to be done. Whilst it is possible to prospectively identify cases of ASD using screening instruments; it is critical that those using such screens in clinical practice understand how to interpret data from published studies and consider how screening information is communicated to parents. After several decades when few randomized controlled trials of early intervention in ASD were conducted, the last decade has seen an explosion of new studies. Despite initial optimism, as more trials are published they have highlighted the limits of, and challenges to, early intervention in ASD. Given the complex nature of ASD these sobering lessons are perhaps not surprising. Rather than promote despondency, they need to inspire and inform the next decade of clinical research to move the field forward to the benefit of young children with ASD and those who care for them.
C1 [Charman, Tony] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
RP Charman, T (reprint author), Kings Coll London, Inst Psychiat, Dept Psychol, Box PO77,Henry Wellcome Bldg,Crespigny Pk, London SE5 8AF, England.
EM tony.charman@kcl.ac.uk
RI Charman, Tony/A-2085-2014
OI Charman, Tony/0000-0003-1993-6549
FU COST Action [BM1004]
FX The author is supported by the COST Action BM1004
(http://www.cost-essea.com/).
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American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 25
TC 3
Z9 3
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 15
EP 18
DI 10.3109/17549507.2013.859732
PG 4
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900003
PM 24410018
ER
PT J
AU Taylor, LJ
Maybery, MT
Whitehouse, AJO
AF Taylor, Lauren J.
Maybery, Murray T.
Whitehouse, Andrew J. O.
TI Moving beyond behaviour-only assessment: Incorporating biomarkers to
improve the early detection and diagnosis of autism spectrum disorders
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; early identification; biomarkers
ID EYE GAZE; INFANTS; RISK
AB This paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention for young children with autism spectrum disorders (ASD). While Caramata focused heavily on the challenges of behavioural screening for ASD, we believe that he has overlooked the potential that the identification of ASD biomarkers may have for the early detection of the disorder. We propose that the discovery of biomarkers, particularly those that may be used in conjunction with behavioural screening, may provide an important next step in reliably detecting and accurately diagnosing ASD in the early years. This would have important clinical implications in terms of providing early intervention, which may alter the developmental path for the child.
C1 [Taylor, Lauren J.; Maybery, Murray T.; Whitehouse, Andrew J. O.] Univ Western Australia, Sch Psychol, Neurocognit Dev Unit, Perth, WA 6009, Australia.
[Taylor, Lauren J.; Whitehouse, Andrew J. O.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia.
RP Taylor, LJ (reprint author), Univ Western Australia, Sch Psychol M304, 35 Stirling Highway, Crawley, WA 6009, Australia.
EM lauren.taylor@graduate.uwa.edu.au
RI Maybery, Murray/H-5390-2014
CR Camarata S, 2014, INT J SPEECH-LANG PA, V16, P1, DOI 10.3109/17549507.2013.858773
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NR 18
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 19
EP 22
DI 10.3109/17549507.2013.855262
PG 4
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900004
PM 24236911
ER
PT J
AU Crais, ER
Watson, LR
AF Crais, Elizabeth R.
Watson, Linda R.
TI Challenges and opportunities in early identification and intervention
for children at-risk for autism spectrum disorders
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; early identification; intervention; screening
ID MODIFIED CHECKLIST; REGRESSIVE AUTISM; PARENT-REPORT; HOME VIDEO; 2ND
YEAR; TODDLERS; AGE; DIAGNOSIS; LIFE; INFANTS
AB This response to Camarata (2014) both agrees and disagrees with a number of points relative to early identification and intervention for children with autism spectrum disorders (ASD). The authors, too, recognize the difficulties of identifying toddlers with ASD and the complexities of intervening with these children. It is, however, suggested that there are alternatives to choosing to wait until diagnoses for at-risk children are stable and it is believed that there are many potential benefits from intervening, even when stable diagnoses cannot be made at the time, but risk markers are present. Specifically, it is suggested that it is not necessary to differentially diagnose children in efforts to evaluate treatment effects and suggestions are provided for alternative methods. This commentary also acknowledges the importance of effective ASD screening tools, along with expert clinical opinion, to help identify these toddlers with and at-risk for ASD. Both the available literature from other researchers as well as the authors' own work in these areas are used to make these arguments.
C1 [Crais, Elizabeth R.; Watson, Linda R.] Univ N Carolina, Chapel Hill, NC 27599 USA.
RP Crais, ER (reprint author), Univ N Carolina, 3125 Bondurant Hall,CB 7190, Chapel Hill, NC 27599 USA.
EM bcrais@med.unc.edu
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Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001
NR 52
TC 5
Z9 5
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 23
EP 29
DI 10.3109/17549507.2013.862860
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900005
PM 24328367
ER
PT J
AU Samms-Vaughan, ME
AF Samms-Vaughan, Maureen E.
TI The status of early identification and early intervention in autism
spectrum disorders in lower- and middle-income countries
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; early identification; lower and middle income
countries
ID JAMAICAN CHILDREN; AGE; RECOGNITION; CONSUMPTION; DIAGNOSIS; SEAFOOD;
INDIA
AB There is limited information on autism spectrum disorders from lower-and middle-income countries (LMIC). This paper reviews the status of early identification and early intervention for autism spectrum disorders in response to the article by Camarata (2014). The PubMed database was searched to identify relevant epidemiological studies from LMIC. Seven studies from five countries were identified: Colombia, India, Jamaica, Jordan, and Mexico. The mean age of parental concern, at 21-24 months, and mean age of diagnosis, at 45-57 months, were similar in LMIC, but later than in high-income countries. Both country groups reported language disorder to be the symptom of initial concern. Similarities in biological aspects of the disorders were noted across LMIC and high-income countries. Comparable ages of identification and diagnosis across vastly different LMIC suggest limited resources to be the underlying contributory factor. Recommendations for improving early identification and intervention made by researchers in the LMIC are reported.
C1 [Samms-Vaughan, Maureen E.] Univ W Indies, Kingston 7, Jamaica.
RP Samms-Vaughan, ME (reprint author), Univ W Indies, Dept Child & Adolescent Hlth, Mona Campus, Kingston 7, Jamaica.
EM msammsvaughan@gmail.com
CR American Psychiatric Association, 2013, DIAGN STAT MAN MENT
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NR 25
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 30
EP 35
DI 10.3109/17549507.2013.866271
PG 6
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900006
PM 24397842
ER
PT J
AU Webb, SJ
Jones, EJH
Kelly, J
Dawson, G
AF Webb, Sara Jane
Jones, Emily J. H.
Kelly, Jean
Dawson, Geraldine
TI The motivation for very early intervention for infants at high risk for
autism spectrum disorders
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorders; ASD; communication; speech; language;
intervention
ID EARLY BEHAVIORAL INTERVENTION; YOUNG-CHILDREN; DEVELOPMENTAL DELAY;
JOINT ATTENTION; COMMUNICATION DEVELOPMENT; INTELLECTUAL DISABILITY;
SYNDROME SPECIFICITY; EARLY IDENTIFICATION; TYPICAL DEVELOPMENT;
PRESCHOOL-CHILDREN
AB The first Autism Research Matrix (IACC, 2003) listed the identification of behavioural and biological markers of risk for autism as a top priority. This emphasis was based on the hypothesis that intervention with infants at-risk, at an early age when the brain is developing and before core autism symptoms have emerged, could significantly alter the developmental trajectory of children at risk for the disorder and impact long-range outcome. Research has provided support for specific models of early autism intervention (e. g., Early Start Denver Model) for improving outcomes in young children with autism, based on both behavioural and brain activity measures. Although great strides have been made in ability to identify risk markers for autism in younger infant/toddler samples, how and when to intervene during the prodromal state remains a critical question. Emerging evidence suggests that abnormal brain circuitry in autism precedes altered social behaviours; thus, an intervention designed to promote early social engagement and reciprocity potentially could steer brain development back toward the normal trajectory and remit or reduce the expression of symptoms.
C1 [Webb, Sara Jane; Kelly, Jean] Univ Washington, Seattle, WA 98195 USA.
[Jones, Emily J. H.] Birkbeck Univ London, London, England.
[Dawson, Geraldine] Duke Univ, Durham, NC USA.
RP Webb, SJ (reprint author), SCRI POB 5371,M-S CW8-6, Seattle, WA 98145 USA.
EM sjwebb@u.washington.edu
FU NIH [R01 HD064820, P50 HD055782]; Autism Speaks; Innovative Medicines
Initiative; European Union; EFPIA companies [115300]
FX Support for this project was provided by the NIH (R01 HD064820 Webb; P50
HD055782 Webb), Autism Speaks (Jones), and Innovative Medicines
Initiative resources, which are composed of financial contribution from
the European Union's Seventh Framework Program (FP7/2007-2013) and EFPIA
companies' in kind contribution (115300 Jones). Additional thanks to the
participant families and staff of the UW ACE Early Connections study and
Promoting First Relationships intervention team.
CR Abbeduto L, 2004, AM J MENT RETARD, V109, P237, DOI 10.1352/0895-8017(2004)109<237:PWACIM>2.0.CO;2
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NR 77
TC 5
Z9 5
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 36
EP 42
DI 10.3109/17549507.2013.861018
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900007
PM 24410019
ER
PT J
AU Brignell, A
Morgan, AT
Woolfenden, S
Williams, K
AF Brignell, Amanda
Morgan, Angela T.
Woolfenden, Susan
Williams, Katrina
TI How relevant is the framework being used with autism spectrum disorders
today?
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism; autistic disorder; autism spectrum disorder; children;
diagnosis; early intervention; prognosis
ID PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; EARLY INTERVENTION;
EARLY INDICATORS; JOINT ATTENTION; FOLLOW-UP; AGE; TRAJECTORIES;
PRESCHOOLERS; PREDICTORS
AB Camarata (2014) provides a comprehensive summary of the current state of the research on early identifi cation and intervention for children with autism spectrum disorders (ASD). Extending on the foundations provided by Camarata, this commentary discusses the value of a diagnosis of ASD and questions whether there is sufficient evidence on which to base continuing calls for early identifi cation and ASD-specific intervention. Gaps are highlighted in the evidence base, suggestions made about how to fill those gaps, and an alternative framework is proposed for achieving best outcomes for children with early developmental problems of the type seen in ASD and their families.
C1 [Brignell, Amanda; Morgan, Angela T.; Williams, Katrina] Univ Melbourne, Melbourne, Vic, Australia.
[Morgan, Angela T.; Williams, Katrina] Murdoch Childrens Res Inst, Melbourne, Vic, Australia.
[Woolfenden, Susan] Univ New S Wales, Sydney, NSW, Australia.
[Woolfenden, Susan] Sydney Children s Hosp Network, Sydney, NSW, Australia.
[Williams, Katrina] Royal Childrens Hosp, Melbourne, Vic, Australia.
RP Brignell, A (reprint author), Univ Melbourne, Royal Childrens Hosp, Level 2,50 Flemington Rd, Parkville, Vic 3052, Australia.
EM amanda.brignell@rch.org.au
RI Williams, Katrina/B-6828-2015
OI Williams, Katrina/0000-0002-1686-4458
FU National Health and Medical Research Council [607315]; Australian
Postgraduate Award scholarship; William Collie Trust Fund
FX We wish to thank Professor Stuart Logan, University of Exeter, for his
review of the paper and editorial comments. Angela Morgan is supported
by a National Health and Medical Research Council Career Development
Award no. 607315. Amanda Brignell is supported by an Australian
Postgraduate Award scholarship. We also wish to thank the William Collie
Trust Fund for their financial support. Infrastructure support was
provided by the Victorian Government's Operational Infrastructure
Support Program.
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NR 59
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 43
EP 49
DI 10.3109/17549507.2013.861870
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900008
PM 24313935
ER
PT J
AU Koegel, LK
Koegel, RL
Ashbaugh, K
Bradshaw, J
AF Koegel, Lynn Kern
Koegel, Robert L.
Ashbaugh, Kristen
Bradshaw, Jessica
TI The importance of early identification and intervention for children
with or at risk for autism spectrum disorders
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorder; early identification; early intervention
ID PIVOTAL RESPONSE TREATMENT; BEHAVIOR PROBLEMS; DIAGNOSTIC-CRITERIA;
COMMUNICATION; STUDENTS; STRESS; PEERS
AB There has been a dramatic rise in the number of children being diagnosed with autism spectrum disorders (ASD), which has led to increased attention paid to assessment and intervention issues. This manuscript agrees with Camarata (2014) that the evidence base for early assessment and intervention should be expanded. However, it disagrees with Warren et al.'s (2011) assumption that there are not empirically validated early interventions. Reliable diagnosis has been documented during infancy and toddlerhood, and evidence suggests that the earlier the onset of intervention, the greater likelihood of an improved developmental trajectory. It is argued that early intervention is more cost and time efficient than a "wait and see" approach. With regard to published studies, the large amount of heterogeneity in the ASD population supports the use of rigorous single case experimental design research. It is an error to limit empirical evidence for treatments to only randomized clinical trials, which have the weakness of masking individual differences. Single case experimental designs examine the effects of intervention beyond typical maturation by allowing for clear estimations of developmental trajectories prior to the onset of intervention, followed by evaluation of the impact of the intervention. This commentary discusses the short-and long-term benefits of early diagnosis and intervention.
C1 [Koegel, Lynn Kern; Koegel, Robert L.; Ashbaugh, Kristen; Bradshaw, Jessica] Univ Calif Santa Barbara, Santa Barbara, CA 93106 USA.
RP Koegel, LK (reprint author), Univ Calif Santa Barbara, Koegel Autism Ctr, Santa Barbara, CA 93106 USA.
EM lynnk@education.ucsb.edu
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NR 65
TC 4
Z9 4
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 50
EP 56
DI 10.3109/17549507.2013.861511
PG 7
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900009
PM 24328352
ER
PT J
AU Trembath, D
Vivanti, G
AF Trembath, David
Vivanti, Giacomo
TI Problematic but predictive: Individual differences in children with
autism spectrum disorders
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorder; early intervention; prediction; outcomes
ID ALTERNATIVE COMMUNICATION; INTERVENTIONS; DISABILITIES
AB Camarata highlights the impact that symptom hetereogeneity, overlap, and individual differences can have on the accurate early diagnosis of children with autism spectrum disorders (ASD) and measurement of treatment outcomes. Nevertheless, these individual differences may provide avenues for predicting individual responses to treatment with the view to prospectively matching children with ASD to treatments best-suited to meeting their individual needs. This commentary suggests that the behavioural characterstics that are critical to accurate early diferential diagnosis of ASD may be poor predictors of outcomes. However, factors that are not unique to ASD may in fact be good predictors of treatment outcomes. This commentary illustrates these points with reference to the results of recent studies demonstrating the problems, and possibilities, that individual differences currently present when it comes to understanding and promoting learning in children with ASD.
C1 [Trembath, David] Griffith Univ, Griffith Hlth Inst, Gold Coast, Qld 4222, Australia.
[Trembath, David; Vivanti, Giacomo] La Trobe Univ, Olga Tennison Autism Res Ctr, Melbourne, Vic, Australia.
[Vivanti, Giacomo] La Trobe Univ, Victorian Autism Specif Early Learning & Care Ctr, Melbourne, Vic, Australia.
RP Trembath, D (reprint author), Griffith Univ, Griffith Hlth Inst, Gold Coast, Qld 4222, Australia.
EM d.trembath@Griffith.edu.au
CR Camarata S, 2014, INT J SPEECH-LANG PA, V16, P1, DOI 10.3109/17549507.2013.858773
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NR 16
TC 2
Z9 2
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 57
EP 60
DI 10.3109/17549507.2013.859300
PG 4
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900010
PM 24345003
ER
PT J
AU Camarata, S
AF Camarata, Stephen
TI Validity of early identification and early intervention in autism
spectrum disorders: Future directions
SO INTERNATIONAL JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
LA English
DT Article
DE Autism spectrum disorder; early identification; early intervention;
autism spectrum disorder screening; autism spectrum disorder treatment
ID LANGUAGE IMPAIRMENT; CHILDREN; RISK; CHALLENGES; SECRETIN; INFANTS
AB The papers on early identification and early intervention for autism spectrum disorders (ASD) in this scientific forum (published in volume 16(1) International Journal of Speech-Language Pathology) raise many important points, including describing the substantial progress made to date as well as analyses of current gaps and weaknesses in the existing evidence base. It is humbling to see the collective expertise of the distinguished authors contributing to this scientific forum including interdisciplinary perspectives and it is not surprising that there is ongoing debate on this important topic. In addition to discussing the points raised by these authors, this paper considers the implications of the new diagnostic criteria for ASD and for social communication disorder (SCD) in the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5) in the US. Differential diagnosis of ASD and SCD will be paramount in testing early intervention for ASD and the expertise of speech-language pathologists in identifying SCD in infants and toddlers will be a central feature of discovery for both early identification and for early intervention in the decades to come. Finally, a biomedical example on testing early intervention on a spectrum disorder, derived from diabetes, is presented to illustrate both the promise and the pitfalls in testing interventions in the absence of well-validated assessment and intervention paradigms.
C1 [Camarata, Stephen] Vanderbilt Univ, Sch Med, Nashville, TN 37232 USA.
RP Camarata, S (reprint author), Vanderbilt Univ, Sch Med, Dept Hearing & Speech Sci, Nashville, TN 37232 USA.
EM stephen.camarata@vanderbilt.edu
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NR 34
TC 1
Z9 1
PU INFORMA HEALTHCARE
PI NEW YORK
PA 52 VANDERBILT AVE, NEW YORK, NY 10017 USA
SN 1754-9507
EI 1754-9515
J9 INT J SPEECH-LANG PA
JI Int. J. Speech-Lang. Pathol.
PD FEB
PY 2014
VL 16
IS 1
BP 61
EP 68
DI 10.3109/17549507.2013.864708
PG 8
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA 291KF
UT WOS:000329826900011
PM 24410020
ER
PT J
AU Golomb, BA
Erickson, LC
Scott-Van Zeeland, AA
Koperski, S
Haas, RH
Wallace, DC
Naviaux, RK
Lincoln, AJ
Reiner, GE
Hamilton, G
AF Golomb, Beatrice A.
Erickson, Laura C.
Scott-Van Zeeland, Ashley A.
Koperski, Sabrina
Haas, Richard H.
Wallace, Douglas C.
Naviaux, Robert K.
Lincoln, Alan J.
Reiner, Gail E.
Hamilton, Gavin
TI Assessing Bioenergetic Compromise in Autism Spectrum Disorder With P-31
Magnetic Resonance Spectroscopy: Preliminary Report
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE autism spectrum disorder; P-31-MRS; brain; muscle; bioenergetics
ID IN-VIVO; MITOCHONDRIAL DYSFUNCTION; SKELETAL-MUSCLE; PRIOR KNOWLEDGE; MR
SPECTRA; BRAIN; QUANTIFICATION; RESPIRATION; RESYNTHESIS; CHILDREN
AB We sought to examine, via Phosphorus-31 magnetic resonance spectroscopy (P-31-MRS) in a case-control design, whether bioenergetic deficits in autism spectrum disorders extend to the brain and muscle. Six cases with autism spectrum disorder with suspected mitochondrial dysfunction (age 6-18 years) and 6 age/sex-matched controls underwent P-31 magnetic resonance spectroscopy. The outcomes of focus were muscle resting phosphocreatine and intracellular pH as well as postexercise phosphocreatine recovery time constant and frontal brain phosphocreatine. Intracellular muscle pH was lower in each autism spectrum disorder case than their matched control (6/6, P = .03; P = .0048, paired t test). Muscle phosphocreatine (5/6), brain phosphocreatine (3/4), and muscle phosphocreatine recovery time constant (3/3) trends were in the predicted direction (not all participants completed each). This study introduces P-31 magnetic resonance spectroscopy as a noninvasive tool for assessment of mitochondrial function in autism spectrum disorder enabling bioenergetic assessment in brain and provides preliminary evidence suggesting that bioenergetic defects in cases with autism spectrum disorder are present in muscle and may extend to brain.
C1 [Golomb, Beatrice A.; Erickson, Laura C.; Koperski, Sabrina] Univ Calif San Diego, Dept Family & Prevent Med, La Jolla, CA 92093 USA.
[Erickson, Laura C.] Georgetown Univ, Interdisciplinary Program Neurosci, Washington, DC USA.
[Scott-Van Zeeland, Ashley A.] Scripps Translat Sci Inst, La Jolla, CA USA.
[Haas, Richard H.; Reiner, Gail E.] Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA.
[Haas, Richard H.; Naviaux, Robert K.; Reiner, Gail E.] Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA.
[Wallace, Douglas C.] Univ Penn, Dept Pathol & Lab Med, Pittsburgh, PA USA.
[Naviaux, Robert K.] Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA.
[Naviaux, Robert K.] Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA.
[Lincoln, Alan J.] Alliant Int Univ, La Jolla, CA USA.
[Lincoln, Alan J.] Ctr Autism Res Evaluat & Serv, La Jolla, CA USA.
[Hamilton, Gavin] Univ Calif San Diego, Dept Radiol, La Jolla, CA 92093 USA.
RP Golomb, BA (reprint author), Univ Calif San Diego, Sch Med, 9500 Gilman Dr 0995, La Jolla, CA 92093 USA.
EM bgolomb@ucsd.edu
FU Autism Speaks [7278, 7277, 5668]; National Institutes of Health (NIH)
[NS070298]; University of California Foundation [3923]
FX The authors disclosed receipt of the following financial support for the
research, authorship, and/or publication of this article: This study was
funded by Autism Speaks High Risk High Impact Grant entitled
Mitochondria and Autism No. 7278 (BG), No. 7277 (RH), and No. 5668 (DW)
as well as National Institutes of Health (NIH) Grant NS070298, DCW
principal investigator, and University of California Foundation Fund No.
3923 (BG). The funding source had no role in the design and conduct of
the study; collection, management, analysis, and interpretation of the
data; and preparation, review, or approval of the manuscript.
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NR 29
TC 1
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 FEB
PY 2014
VL 29
IS 2
BP 187
EP 193
DI 10.1177/0883073813498466
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 289MT
UT WOS:000329687300006
PM 24141271
ER
PT J
AU Maggio, V
Granana, NE
Richaudeau, A
Torres, S
Giannotti, A
Suburo, AM
AF Maggio, Veronica
Granana, Nora E.
Richaudeau, Alba
Torres, Silvio
Giannotti, Adrian
Suburo, Angela M.
TI Behavior Problems in Children With Specific Language Impairment
SO JOURNAL OF CHILD NEUROLOGY
LA English
DT Article
DE language impairment; behavior problems; social behavior; communication;
Child Behavior Checklist; Illinois Test of Psycholinguistic Abilities
ID AUTISM SPECTRUM DISORDER; READING-DISABILITY; HAND PREFERENCE;
PREVALENCE; HISTORY; DELAY; SLI; ADOLESCENTS; SPEECH; DIFFICULTIES
AB We studied behavior in a group of children with specific language impairment in its 2 subtypes (expressive and mixed receptive/expressive). After exclusion of other psychiatric conditions, we evaluated 114 children of ages 2 to 7 years using language developmental tests and behavioral screening scales. Behavior problems appeared in 54% of the children. Withdrawn was the most frequently found syndrome in preschool children, whereas anxious/depressed and social problems were the most frequent in older children. The high frequency of behavioral syndromes in children with specific language impairment is remarkable and requires the awareness of primary attendants and specialists. Anxiety, depression, social isolation, and aggressive and rule-breaking behavior can obscure identification of the language impairment. Taking into account this relationship would improve the chances of a timely and appropriate intervention.
C1 [Maggio, Veronica; Granana, Nora E.; Richaudeau, Alba; Torres, Silvio; Giannotti, Adrian] Hosp Univ Austral, Clin CLASE Neuropsicol, Pilar, Argentina.
[Granana, Nora E.] Hosp Carlos Durand, Serv Pediat, Buenos Aires, DF, Argentina.
[Suburo, Angela M.] Univ Austral, Fac Ciencias Biomed, Pilar, Argentina.
RP Granana, NE (reprint author), Juncal 2354 PB 3, RA-1125 Buenos Aires, DF, Argentina.
EM ngranana@gmail.com
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NR 63
TC 1
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 FEB
PY 2014
VL 29
IS 2
BP 194
EP 202
DI 10.1177/0883073813509886
PG 9
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 289MT
UT WOS:000329687300007
PM 24272522
ER
PT J
AU Ramos-Quiroga, JA
Sanchez-Mora, C
Casas, M
Garcia-Martinez, I
Bosch, R
Nogueira, M
Corrales, M
Palomar, G
Vidal, R
Coll-Tane, M
Bayes, M
Cormand, B
Ribases, M
AF Ramos-Quiroga, Josep-Antoni
Sanchez-Mora, Cristina
Casas, Miguel
Garcia-Martinez, Iris
Bosch, Rosa
Nogueira, Mariana
Corrales, Montse
Palomar, Gloria
Vidal, Raquel
Coll-Tane, Mireia
Bayes, Monica
Cormand, Bru
Ribases, Marta
TI Genome-wide copy number variation analysis in adult attention-deficit
and hyperactivity disorder
SO JOURNAL OF PSYCHIATRIC RESEARCH
LA English
DT Article
DE Copy number variation (CNV); Attention-deficit and hyperactivity
disorder (ADHD); Autism; Schizophrenia
ID DEFICIT/HYPERACTIVITY DISORDER; ASSOCIATION SCAN; KNOCKOUT MICE;
PSYCHIATRIC-DISORDERS; 5-HT1B RECEPTORS; CANDIDATE GENE; RARE VARIANTS;
LIFE-SPAN; ADHD; CHILDREN
AB Attention-deficit and hyperactivity disorder (ADHD) is a common psychiatric disorder with a worldwide prevalence of 5-6% in children and 4.4% in adults. Recently, copy number variations (CNVs) have been implicated in different neurodevelopmental disorders such as ADHD. Based on these previous reports that focused on pediatric cohorts, we hypothesize that structural variants may also contribute to adult ADHD and that such genomic variation may be enriched for CNVs previously identified in children with ADHD. To address this issue, we performed for the first time a whole-genome CNV study on 400 adults with ADHD and 526 screened controls. In agreement with recent reports in children with ADHD or in other psychiatric disorders, we identified a significant excess of insertions in ADHD patients compared to controls. The overall rate of CNVs >100 kb was 1.33 times higher in ADHD subjects than in controls (p = 2.4e-03), an observation mainly driven by a higher proportion of small events (from 100 kb to 500 kb; 1.35-fold; p = 1.3e-03). These differences remained significant when we considered CNVs that overlap genes or when structural variants spanning candidate genes for psychiatric disorders were evaluated, with duplications showing the greatest difference (1.41-fold, p = 0.024 and 2.85-fold, p = 8.5e-03, respectively). However, no significant enrichment was detected in our ADHD cohort for childhood ADHD-associated CNVs, CNVs previously identified in at least one ADHD patient or CNVs previously implicated in autism or schizophrenia. In conclusion, our study provides tentative evidence for a higher rate of CNVs in adults with ADHD compared to controls and contributes to the growing list of structural variants potentially involved in the etiology of the disease. (C) 2013 Elsevier Ltd. All rights reserved.
C1 [Ramos-Quiroga, Josep-Antoni; Sanchez-Mora, Cristina; Casas, Miguel; Garcia-Martinez, Iris; Bosch, Rosa; Nogueira, Mariana; Corrales, Montse; Palomar, Gloria; Vidal, Raquel; Coll-Tane, Mireia; Ribases, Marta] Hosp Univ Vall dHebron, Dept Psychiat, Barcelona, Spain.
[Ramos-Quiroga, Josep-Antoni; Sanchez-Mora, Cristina; Casas, Miguel; Bosch, Rosa; Ribases, Marta] Biomed Network Res Ctr Mental Hlth CIBERSAM, Barcelona, Spain.
[Ramos-Quiroga, Josep-Antoni; Casas, Miguel] Univ Autonoma Barcelona, Dept Psychiat & Legal Med, E-08193 Barcelona, Spain.
[Sanchez-Mora, Cristina; Garcia-Martinez, Iris; Coll-Tane, Mireia; Ribases, Marta] Vall dHebron Res Inst VHIR, Psychiat Genet Unit, Barcelona, Spain.
[Bayes, Monica] Ctr Nacl Anal Genom, Barcelona, Spain.
[Cormand, Bru] Univ Barcelona, Fac Biol, Dept Genet, E-08007 Barcelona, Spain.
[Cormand, Bru] Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain.
[Cormand, Bru] Inst Biomed Univ Barcelona, Barcelona, Spain.
RP Ribases, M (reprint author), Hosp Univ Vall dHebron, Dept Psychiat, Barcelona, Spain.
EM marta.ribases@gmail.com
FU Miguel de Servet contract from the "Instituto de Salud Carlos III,
Ministerio de Ciencia e Innovacion", Spain; Fundaci o La Marato de TV3
[092330/31]; Instituto de Salud Carlos III-FIS [PI11/00571, PI11/01629,
PI12/01139]; Plan Nacional Sobre Drogas (PNSD) [2011-0080]; Agencia de
Gestio d' Ajuts Universitaris i de Recerca-AGAUR [2009SGR1554,
2009SGR0971]; Ministerio de Economia y Competitividad [SAF2012-33484];
"Departament de Salut", Government of Catalonia, Spain
FX MR is a recipient of a Miguel de Servet contract from the "Instituto de
Salud Carlos III, Ministerio de Ciencia e Innovacion", Spain. Financial
support was received from "Fundaci o La Marato de TV3" (ref. 092330/31),
"Instituto de Salud Carlos III-FIS" (PI11/00571, PI11/01629,
PI12/01139), "Plan Nacional Sobre Drogas" (PNSD#2011-0080), "Agencia de
Gestio d' Ajuts Universitaris i de Recerca-AGAUR" (2009SGR1554,
2009SGR0971), "Ministerio de Economia y Competitividad" (SAF2012-33484)
and "Departament de Salut", Government of Catalonia, Spain.
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NR 72
TC 7
Z9 8
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 FEB
PY 2014
VL 49
BP 60
EP 67
DI 10.1016/j.jpsychires.2013.10.022
PG 8
WC Psychiatry
SC Psychiatry
GA 290QG
UT WOS:000329772800009
PM 24269040
ER
PT J
AU Martinez-Sanchis, S
Santacreu, MCB
Sancho, RC
Domenech, MG
AF Martinez-Sanchis, Sonia
Bernal Santacreu, M. Consuelo
Cortes Sancho, Rosa
Gadea Domenech, Marien
TI Language laterality, handedness and empathy in a sample of parents of
children with autism spectrum disorder
SO PSICOTHEMA
LA English
DT Article
DE Language laterality; broader autism phenotype; autism; parents
ID ASPERGER-SYNDROME; QUOTIENT EQ; GENETICS; EPIDEMIOLOGY; PERFORMANCE;
PREVALENCE; VALIDATION; ADULTS; FMRI
AB Background: First-order relatives of persons with Autism Spectrum Disorder (ASD) exhibit a cognitive pattern which is part of a broader autism phenotype. Method: The purpose of the present study was to evaluate whether some neuropsychological features related to the autism phenotype are present in parents of ASD children. To this end, the exploration included a dichotic listening task, handedness and the Empathy Quotient (EQ-60). Results: The scores obtained by the total sample (fathers plus mothers) were similar to those of the general population, although there were differences in some parameters of the dichotic listening task depending on the gender. Contrary to expectations, only in fathers, the negative correlation between data from both ears was not statistically significant, which could be evidence of a lack of hemispheric interdependence. Conclusions: These results support the possible existence of a genetic susceptibility to an aberrant language asymmetry pattern. Moreover, possible unknown epigenetic factors could act on a vulnerable genotype in some ASD subjects. Nevertheless, due to the small sample size, the present research must be considered a pilot study.
C1 [Martinez-Sanchis, Sonia; Bernal Santacreu, M. Consuelo; Gadea Domenech, Marien] Univ Valencia, Valencia 46010, Spain.
[Cortes Sancho, Rosa] CSISP Generalitat Valenciana, Valencia, Spain.
RP Martinez-Sanchis, S (reprint author), Univ Valencia, Fac Psicol, Valencia 46010, Spain.
EM sonia.mtnez-sanchis@uv.es
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NR 42
TC 0
Z9 0
PU COLEGIO OFICIAL DE PSICOLOGOS DE ASTURIAS
PI OVIEDO
PA ILDEFONSO S. DEL RIO, 4-1 B, 33001 OVIEDO, SPAIN
SN 0214-9915
EI 1886-144X
J9 PSICOTHEMA
JI Psicothema
PD FEB
PY 2014
VL 26
IS 1
BP 17
EP 20
DI 10.7334/psicothema2013.87
PG 4
WC Psychology, Multidisciplinary
SC Psychology
GA 293YF
UT WOS:000330008900003
PM 24444724
ER
PT J
AU Talebizadeh, Z
Aldenderfer, R
Chen, XW
AF Talebizadeh, Zohreh
Aldenderfer, Richard
Chen, Xue Wen
TI A proof-of-concept study: exon-level expression profiling and
alternative splicing in autism using lymphoblastoid cell lines
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE alternative splicing; autism; differential expression; exon array;
lymphoblastoid cell lines
ID GENE-EXPRESSION; MENTAL-RETARDATION; HUMAN BRAIN; DATABASE; PROTEIN;
TRANSCRIPTOME; DISORDER; DISEASE; NORMALIZATION; RECEPTORS
AB ObjectiveAutism is a complex, heterogeneous neurobehavioral disorder with many causes and varying degrees of severity. Some genetic implications related to autism may involve gene-regulatory processes such as alternative splicing. Here, we assess the feasibility of profiling exon-level gene expression in autism using the Affymetrix Human exon 1.0 ST array.MethodsWe examined lymphoblastoid cell line-derived RNAs from five patients with autism compared with five controls.ResultsAnalysis of variance and Bonferroni multiple test correction identified 57 genes exhibiting differential exon-level expression, suggesting potential changes in the resultant alternatively spliced transcripts in autism compared with controls. Genes with differentially expressed exons included CYFIP1, a previously reported autism susceptibility gene. Furthermore, several genes recently reported to have deregulated alternative splicing in autism brain samples showed differential exon expression in our autism group.ConclusionThe paucity of autism brain samples and extensive phenotypic heterogeneity of autism demands finding ways to also identify autism-related genomic events in accessible nonbrain resources, which may contribute in biomarker identifications. This proof-of-concept study shows that the analysis of alternative splicing in lymphoblastoid cell line samples has a potential to reveal at least a subset of brain-related deregulation of splicing machinery that might be implicated in autism.
C1 [Talebizadeh, Zohreh; Aldenderfer, Richard] Childrens Mercy Hosp, Sect Med Genet & Mol Med, Kansas City, MO 64108 USA.
[Talebizadeh, Zohreh; Aldenderfer, Richard] Univ Missouri, Sch Med, Kansas City, MO 64108 USA.
[Chen, Xue Wen] Univ Kansas, Dept Elect Engn & Comp Sci, Lawrence, KS 66045 USA.
RP Talebizadeh, Z (reprint author), Childrens Mercy Hosp & Clin, 2401 Gillham Rd, Kansas City, MO 64108 USA.
EM ztalebi@cmh.edu
FU National Institute of Mental Health [1U24MH081810]; Children's Mercy
Hospital-KBR Award [CMH/01.4232]; Autism Speaks [2578]; NICHD Brain and
Tissue Bank for Developmental Disorders, University of Maryland,
Baltimore, Maryland [NO1-HD-4-3368, NO1-HD-4-3383]; Kansas
University-School of Medicine, KUMC Biotechnology Support Facility;
Smith Intellectual and Developmental Disabilities Research Center
[HD02528]; Kansas IDeA Network of Biomedical Research Excellence
[RR016475]
FX The authors wish to thank Dr Nataliya Kibiryeva (CMH) for assisting with
exon array data analysis. The authors acknowledge the AGRE families;
without them, this research would not have been possible. They also
gratefully acknowledge the resources provided by the Autism Genetic
Resource Exchange (AGRE) Consortium and the participating AGRE families.
The Autism Genetic Resource Exchange is a program of Autism Speaks and
is supported, in part, by grant 1U24MH081810 from the National Institute
of Mental Health to Clara M. Lajonchere (PI). Partial funding support
was provided from the Children's Mercy Hospital-KBR Award (CMH/01.4232)
and Autism Speaks (2578) to Z.T.The authors thank the Kansas University
Medical Center-Microarray Facility (KUMC-MF) for generating array data
sets. The Microarray Facility is supported by the Kansas
University-School of Medicine, KUMC Biotechnology Support Facility, the
Smith Intellectual and Developmental Disabilities Research Center
(HD02528), and the Kansas IDeA Network of Biomedical Research Excellence
(RR016475). Human tissues were obtained from the NICHD Brain and Tissue
Bank for Developmental Disorders, University of Maryland, Baltimore,
Maryland under contracts NO1-HD-4-3368 and NO1-HD-4-3383.
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NR 54
TC 2
Z9 2
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 FEB
PY 2014
VL 24
IS 1
BP 1
EP 9
DI 10.1097/YPG.0b013e3283635526
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291EZ
UT WOS:000329812000001
PM 23838881
ER
PT J
AU Jonsson, L
Anckarsater, H
Zettergren, A
Westberg, L
Walum, H
Lundstrom, S
Larsson, H
Lichtenstein, P
Melke, J
AF Jonsson, Lina
Anckarsater, Henrik
Zettergren, Anna
Westberg, Lars
Walum, Hasse
Lundstrom, Sebastian
Larsson, Henrik
Lichtenstein, Paul
Melke, Jonas
TI Association between ASMT and autistic-like traits in children from a
Swedish nationwide cohort
SO PSYCHIATRIC GENETICS
LA English
DT Article
DE acetylserotonin O-methyltransferase; autism spectrum disorders;
autistic-like traits; melatonin; polymorphism
ID SPECTRUM SCREENING QUESTIONNAIRE; DEFICIT HYPERACTIVITY DISORDER; HUMAN
PINEAL-GLAND; MELATONIN SYNTHESIS; EUROPEAN POPULATIONS; TELEPHONE
INTERVIEW; CHILDHOOD AUTISM; RECEPTOR GENE; RETT-SYNDROME; YOUNG-ADULTS
AB Individuals with autism spectrum disorders often show low levels of melatonin, and it has been suggested that this decrease may be because of the low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin-synthesis pathway. Also, genetic variants in ASMT have been associated with autism, as well as with low ASMT activity and melatonin levels, suggesting that the low ASMT activity observed in autism may partly be because of variations within the ASMT gene. In this study, we present a symptom-based approach to investigate possible associations between ASMT and autistic-like traits in the general population. To this end, continuous measures of autistic-like traits were assessed in a nationally representative twin cohort (n=1771) from Sweden and six single nucleotide polymorphisms (SNPs), and a duplication of exons 2-8 in ASMT were genotyped. Our results show a nominally significant association, in girls, between one single nucleotide polymorphism (rs5949028) in the last intron of ASMT and social interaction impairments. No significant association, however, was observed with traits related to language impairment or restricted and repetitive behavior. In conclusion, our results support the possible involvement of the ASMT gene in autism spectrum disorders, and our finding that only one of the three traits shows association suggests that genetic research may benefit from adopting a symptom-specific approach to identify genes involved in autism psychopathology.
C1 [Jonsson, Lina; Zettergren, Anna; Westberg, Lars; Melke, Jonas] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Pharmacol, SE-40530 Gothenburg, Sweden.
[Anckarsater, Henrik; Lundstrom, Sebastian] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Forens Psychiat, SE-40530 Gothenburg, Sweden.
[Lundstrom, Sebastian] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Inst Neurosci & Physiol, SE-40530 Gothenburg, Sweden.
[Lundstrom, Sebastian] Swedish Prison & Probat Serv, R&D Unit, Gothenburg, Sweden.
[Walum, Hasse; Larsson, Henrik; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
RP Jonsson, L (reprint author), Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Pharmacol, POB 431, SE-40530 Gothenburg, Sweden.
EM lina.jonsson@neuro.gu.se
FU Swedish Research Council; Swedish Council for Working Life and Social
Research; Petrus and Augusta Hedlund Foundation; Ake Wiberg Foundation;
Ahlens Foundation; Wilhelm and Martina Lundgren Foundation; Sahlgrenska
Academy
FX The authors are grateful to the study participants and their relatives
who made this study possible. Technicians Gunilla Bourghardt and Inger
Oscarsson are warmly thanked for their skillful assistance. This work
has been supported by the Swedish Research Council, the Swedish Council
for Working Life and Social Research, the Petrus and Augusta Hedlund
Foundation, Ake Wiberg Foundation, Ahlens Foundation, Wilhelm and
Martina Lundgren Foundation, and the Sahlgrenska Academy. The authors
would also like to thank the Genomics Core Facility platform at the
Sahlgrenska Academy, University of Gothenburg.
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NR 49
TC 0
Z9 1
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 FEB
PY 2014
VL 24
IS 1
BP 21
EP 27
DI 10.1097/YPG.0000000000000010
PG 7
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291EZ
UT WOS:000329812000003
PM 23995775
ER
PT J
AU Mikhailov, A
Fennell, A
Plong-on, O
Sripo, T
Hansakunachai, T
Roongpraiwan, R
Sombuntham, T
Ruangdaraganon, N
Vincent, JB
Limprasert, P
AF Mikhailov, Anna
Fennell, Alanna
Plong-on, Oradawan
Sripo, Thanya
Hansakunachai, Tippawan
Roongpraiwan, Rawiwan
Sombuntham, Tasnawat
Ruangdaraganon, Nichara
Vincent, John B.
Limprasert, Pornprot
TI Screening of NLGN3 and NLGN4X genes in Thai children with autism
spectrum disorder
SO PSYCHIATRIC GENETICS
LA English
DT Article
ID MUTATIONS
C1 [Mikhailov, Anna; Fennell, Alanna; Vincent, John B.] Univ Toronto, Ctr Addict & Mental Hlth, Campbell Family Brain Res Inst, Mol Neuropsychiat & Dev Lab,Neurogenet Sect, Toronto, ON, Canada.
[Vincent, John B.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Plong-on, Oradawan; Sripo, Thanya; Limprasert, Pornprot] Prince Songkla Univ, Fac Med, Dept Pathol, Hat Yai 90110, Songkhla, Thailand.
[Hansakunachai, Tippawan] Thammasat Univ, Fac Med, Dept Pediat, Pathum Thani, Thailand.
[Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Ruangdaraganon, Nichara] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand.
RP Limprasert, P (reprint author), Prince Songkla Univ, Fac Med, Dept Pathol, Div Human Genet, Hat Yai 90110, Songkhla, Thailand.
EM lpornpro@yahoo.com
FU National Center for Genetic Engineering and Biotechnology (BIOTEC)
[BT-B-01-MG-18-4814]; Faculty of Medicine; Prince of Songkla University
[48/364-006-1]; Prince of Songkla University Collaborative Research Fund
[MED52-02355]
FX This study was supported by the National Center for Genetic Engineering
and Biotechnology (BIOTEC: Grant no. BT-B-01-MG-18-4814) and co-research
funding between the Faculty of Medicine and Prince of Songkla University
(48/364-006-1) and the Prince of Songkla University Collaborative
Research Fund (MED52-02355).
CR Jamain S, 2003, NAT GENET, V34, P27, DOI 10.1038/ng1136
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NR 5
TC 1
Z9 1
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 FEB
PY 2014
VL 24
IS 1
BP 42
EP 43
DI 10.1097/YPG.0000000000000019
PG 2
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291EZ
UT WOS:000329812000007
PM 24362370
ER
PT J
AU Franklin, AV
King, MK
Palomo, V
Martinez, A
McMahon, LL
Jope, RS
AF Franklin, Aimee V.
King, Margaret K.
Palomo, Valle
Martinez, Ana
McMahon, Lori L.
Jope, Richard S.
TI Glycogen Synthase Kinase-3 Inhibitors Reverse Deficits in Long-term
Potentiation and Cognition in Fragile X Mice
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Cognition; fragile X syndrome; glycogen synthase kinase-3; learning;
long-term potentiation (LTP); synaptic plasticity
ID FMR1 KNOCKOUT MOUSE; DENTATE GYRUS; MENTAL-RETARDATION; DORSAL
HIPPOCAMPUS; SYNAPTIC PLASTICITY; SPATIAL INFORMATION; PATTERN
SEPARATION; MODEL; MEMORY; PHENOTYPE
AB Background: Identifying feasible therapeutic interventions is crucial for ameliorating the intellectual disability and other afflictions of fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism. Hippocampal glycogen synthase kinase-3 (GSK3) is hyperactive in the mouse model of FXS (FX mice), and hyperactive GSK3 promotes locomotor hyperactivity and audiogenic seizure susceptibility in FX mice, raising the possibility that specific GSK3 inhibitors may improve cognitive processes.
Methods: We tested if specific GSK3 inhibitors improve deficits in N-methyl-D-aspartate receptor-dependent long-term potentiation at medial perforant path synapses onto dentate granule cells and dentate gyrus-dependent cognitive behavioral tasks.
Results: GSK3 inhibitors completely rescued deficits in long-term potentiation at medial perforant path-dentate granule cells synapses in FX mice. Furthermore, synaptosomes from the dentate gyrus of FX mice displayed decreased inhibitory serine-phosphorylation of GSK3 beta compared with wild-type littermates. The potential therapeutic utility of GSK3 inhibitors was further tested on dentate gyrus-dependent cognitive behaviors. In vivo administration of GSK3 inhibitors completely reversed impairments in several cognitive tasks in FX mice, including novel object detection, coordinate and categorical spatial processing, and temporal ordering for visual objects.
Conclusions: These findings establish that synaptic plasticity and cognitive deficits in FX mice can be improved by intervention with inhibitors of GSK3, which may prove therapeutically beneficial in FXS.
C1 [Franklin, Aimee V.; McMahon, Lori L.] Univ Alabama Birmingham, Dept Cell Dev & Integrat Biol, Birmingham, AL USA.
[King, Margaret K.; Jope, Richard S.] Univ Miami, Miller Sch Med, Dept Psychiat & Behav Sci, Miami, FL 33136 USA.
[King, Margaret K.; Jope, Richard S.] Univ Miami, Miller Sch Med, Dept Biochem & Mol Biol, Miami, FL 33136 USA.
[Palomo, Valle; Martinez, Ana] CSIC, Inst Quim Med, E-28006 Madrid, Spain.
RP Jope, RS (reprint author), Univ Miami, Miller Sch Med, 1011 NW 15th St,Gautier Bldg Room 416, Miami, FL 33136 USA.
EM rjope@med.miami.edu
RI Martinez, Ana/L-6414-2014
OI Martinez, Ana/0000-0002-2707-8110
FU National Institute of Mental Health [MH038752, F31MH097362-01A]; NINDS
[T32 NS061788]; Civitan Emerging Scholars Fellowship; Howard Hughes
Medical Institute; FRAXA Research Foundation
FX This research was supported by grants from the National Institute of
Mental Health (Grant Nos. MH038752, and F31MH097362-01A), NINDS (T32
NS061788), Civitan Emerging Scholars Fellowship, Howard Hughes Medical
Institute, and the FRAXA Research Foundation.
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NR 78
TC 15
Z9 15
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 FEB 1
PY 2014
VL 75
IS 3
BP 198
EP 206
DI 10.1016/j.biopsych.2013.08.003
PG 9
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 281WA
UT WOS:000329130500008
PM 24041505
ER
PT J
AU Korade, Z
Xu, LB
Harrison, FE
Ahsen, R
Hart, SE
Folkes, OM
Mirnics, K
Porter, NA
AF Korade, Zeljka
Xu, Libin
Harrison, Fiona E.
Ahsen, Refayat
Hart, Sarah E.
Folkes, Oakleigh M.
Mirnics, Karoly
Porter, Ned A.
TI Antioxidant Supplementation Ameliorates Molecular Deficits in
Smith-Lemli-Opitz Syndrome
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Antioxidants; 7-dehydrocholesterol; DHCEO; Dhcr7; oxysterol;
Smith-Lemli-Opitz Syndrome
ID AUTISM SPECTRUM DISORDERS; VITAMIN-E; ALPHA-TOCOPHEROL;
7-DEHYDROCHOLESTEROL-DERIVED OXYSTEROLS; RETINAL DEGENERATION; OXIDATIVE
STRESS; REDUCTASE GENE; RAT MODEL; CHOLESTEROL; PEROXIDATION
AB Background: Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized by diminished cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. 7-Dehydrocholesterol is highly reactive, giving rise to biologically active oxysterols.
Methods: 7-DHC-derived oxysterols were measured in fibroblasts from SLOS patients and an in vivo SLOS rodent model using highperformance liquid chromatography tandem mass spectrometry. Expression of lipid biosynthesis genes was ascertained by quantitative polymerase chain reaction and Western blot. The effects of an antioxidant mixture of vitamin A, coenzyme Q10, vitamin C, and vitamin E were evaluated for their potential to reduce formation of 7-DHC oxysterols in fibroblast from SLOS patients. Finally, the effect of maternal feeding of vitamin E enriched diet was ascertained in the brain and liver of newborn SLOS mice.
Results: In cultured human SLOS fibroblasts, the antioxidant mixture led to decreased levels of the 7-DHC-derived oxysterol, 3 beta, 5a-dihydroxycholest-7-en-6-one. Furthermore, gene expression changes in SLOS human fibroblasts were normalized with antioxidant treatment. The active ingredient appeared to be vitamin E, as even at low concentrations, it significantly decreased 3 beta, 5a-dihydroxycholest-7-en-6-one levels. In addition, analyzing a mouse SLOS model revealed that feeding a vitamin E enriched diet to pregnant female mice led to a decrease in oxysterol formation in brain and liver tissues of the newborn Dhcr7-knockout pups.
Conclusions: Considering the adverse effects of 7-DHC-derived oxysterols in neuronal and glial cultures and the positive effects of antioxidants in patient cell cultures and the transgenic mouse model, we believe that preventing formation of 7-DHC oxysterols is critical for countering the detrimental effects of DHCR7 mutations.
C1 [Korade, Zeljka; Ahsen, Refayat; Hart, Sarah E.; Mirnics, Karoly] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37235 USA.
[Xu, Libin; Porter, Ned A.] Vanderbilt Univ, Dept Chem, Nashville, TN 37235 USA.
[Harrison, Fiona E.; Folkes, Oakleigh M.] Vanderbilt Univ, Div Diabet Endocrinol & Metab, Nashville, TN 37235 USA.
[Xu, Libin; Porter, Ned A.] Vanderbilt Univ, Vanderbilt Inst Chem Biol, Nashville, TN 37235 USA.
[Korade, Zeljka; Harrison, Fiona E.; Mirnics, Karoly; Porter, Ned A.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37235 USA.
RP Porter, NA (reprint author), Vanderbilt Univ, Dept Chem, 7962 Stevenson Ctr, Nashville, TN 37235 USA.
EM n.porter@vanderbilt.edu
FU National Institutes of Health (National Institute of Child Health and
Human Development [K99HD073270]; National Institute on Aging
[R01AG038739, R01MH079299, R01MH067234]; National Institute of Child
Health and Human Development [R01HD064727]; Vanderbilt Kennedy Center
for Research on Human Development; Harrison is grateful for funding from
the Division of Diabetes, Endocrinology and Metabolism of Vanderbilt
University
FX The National Institutes of Health (National Institute of Child Health
and Human Development K99HD073270 to LX; National Institute on Aging
R01AG038739 to FEH, R01MH079299 and R01MH067234 to KM; National
Institute of Child Health and Human Development R01HD064727 to NAP)
supported this work.Zeljka Korade appreciates support from the
Vanderbilt Kennedy Center for Research on Human Development. Fiona
Harrison is grateful for funding from the Division of Diabetes,
Endocrinology and Metabolism of Vanderbilt University.
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NR 49
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 FEB 1
PY 2014
VL 75
IS 3
BP 215
EP 222
DI 10.1016/j.biopsych.2013.06.013
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 281WA
UT WOS:000329130500010
PM 23896203
ER
PT J
AU Iuculano, T
Rosenberg-Lee, M
Supekar, K
Lynch, CJ
Khouzam, A
Phillips, J
Uddin, LQ
Menon, V
AF Iuculano, Teresa
Rosenberg-Lee, Miriam
Supekar, Kaustubh
Lynch, Charles J.
Khouzam, Amirah
Phillips, Jennifer
Uddin, Lucina Q.
Menon, Vinod
TI Brain Organization Underlying Superior Mathematical Abilities in
Children with Autism
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Autism; brain organization; cognitive strengths; mathematical abilities;
multivariate pattern analysis; support vector machine
ID PERVASIVE DEVELOPMENTAL DISORDERS; FUSIFORM FACE AREA; DIAGNOSTIC
INTERVIEW; WORKING-MEMORY; SPECTRUM; INDIVIDUALS; RECOGNITION;
MATURATION; EXPERTISE; OBJECTS
AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits. While such deficits have been the focus of most research, recent evidence suggests that individuals with ASD may exhibit cognitive strengths in domains such as mathematics.
Methods: Cognitive assessments and functional brain imaging were used to investigate mathematical abilities in 18 children with ASD and 18 age-, gender-, and IQ-matched typically developing (TD) children. Multivariate classification and regression analyses were used to investigate whether brain activity patterns during numerical problem solving were significantly different between the groups and predictive of individual mathematical abilities.
Results: Children with ASD showed better numerical problem solving abilities and relied on sophisticated decomposition strategies for single-digit addition problems more frequently than TD peers. Although children with ASD engaged similar brain areas as TD children, they showed different multivariate activation patterns related to arithmetic problem complexity in ventral temporal-occipital cortex, posterior parietal cortex, and medial temporal lobe. Furthermore, multivariate activation patterns in ventral temporal-occipital cortical areas typically associated with face processing predicted individual numerical problem solving abilities in children with ASD but not in TD children.
Conclusions: Our study suggests that superior mathematical information processing in children with ASD is characterized by a unique pattern of brain organization and that cortical regions typically involved in perceptual expertise may be utilized in novel ways in ASD. Our findings of enhanced cognitive and neural resources for mathematics have critical implications for educational, professional, and social outcomes for individuals with this lifelong disorder.
C1 [Iuculano, Teresa; Rosenberg-Lee, Miriam; Supekar, Kaustubh; Lynch, Charles J.; Khouzam, Amirah; Phillips, Jennifer; Uddin, Lucina Q.; Menon, Vinod] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
[Menon, Vinod] Stanford Univ, Dept Neurol & Neurol Sci, Stanford, CA 94305 USA.
[Menon, Vinod] Stanford Univ, Program Neurosci, Stanford, CA 94305 USA.
[Iuculano, Teresa] UCL, Inst Cognit Neurosci, London, England.
RP Iuculano, T (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford Cognit & Syst Neurosci Lab, 401 Quarry Rd, Stanford, CA 94305 USA.
EM teresai1@stanford.edu
FU University College London; National Institutes of Health [K01MH092288,
MH084164, HD047520, DC011095]; Singer Foundation; Stanford Institute for
Neuroscience
FX This work was supported by a Bogue Research Fellowship from University
College London to TI, by a Career Development Award from the National
Institutes of Health (K01MH092288) to LQU, and by grants from the Singer
Foundation, the Stanford Institute for Neuroscience, and the National
Institutes of Health (MH084164, HD047520, DC011095) to VM.
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NR 44
TC 5
Z9 5
PU ELSEVIER SCIENCE INC
PI NEW YORK
PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
SN 0006-3223
EI 1873-2402
J9 BIOL PSYCHIAT
JI Biol. Psychiatry
PD FEB 1
PY 2014
VL 75
IS 3
BP 223
EP 230
DI 10.1016/j.biopsych.2013.06.018
PG 8
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 281WA
UT WOS:000329130500011
PM 23954299
ER
PT J
AU Shic, F
Macari, S
Chawarska, K
AF Shic, Frederick
Macari, Suzanne
Chawarska, Katarzyna
TI Speech Disturbs Face Scanning in 6-Month-Old Infants Who Develop Autism
Spectrum Disorder
SO BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Autism; eye-tracking; faces; infants; social attention; speech
ID SIBLINGS RESEARCH CONSORTIUM; JOINT VISUAL-ATTENTION; HEAD
CIRCUMFERENCE; SOCIAL SCENES; AT-RISK; EARLY IDENTIFICATION; EYE-GAZE;
1ST YEAR; CHILDREN; TODDLERS
AB Background: From birth, infants show a preference for the faces, gaze, and voices of others. In individuals with autism spectrum disorders (ASDs) these biases seem to be disturbed. The source of these disturbances is not well-understood, but recent efforts have shown that the spontaneous deployment of attention to social targets might be atypical as early as 6 months of age. The nature of this atypical behavior and the conditions under which it arises are currently unknown.
Methods: We used eye-tracking to examine the gaze patterns of 6-month-old infants (n = 99) at high risk (n = 57) and low risk (n = 42) for developing ASD as they viewed faces that were: 1) still; 2) moving and expressing positive affect; or 3) speaking. Clinical outcomes were determined through a comprehensive assessment at the age of 3 years. The scanning patterns of infants later diagnosed with ASD were compared with infants without an ASD outcome.
Results: Infants who later developed ASD spent less time looking at the presented scenes in general than other infants. When these infants looked at faces, their looking toward the inner features of faces decreased compared with the other groups only when the presented face was speaking.
Conclusions: Our study suggests that infants later diagnosed with ASD have difficulties regulating attention to complex social scenes. It also suggests that the presence of speech might uniquely disturb the attention of infants who later develop ASD at a critical developmental point when other infants are acquiring language and learning about their social world.
C1 [Shic, Frederick; Macari, Suzanne; Chawarska, Katarzyna] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA.
RP Shic, F (reprint author), Yale Child Study Ctr, 40 Temple St,Suite 7D, New Haven, CT 06510 USA.
EM frederick.shic@yale.edu
FU National Institute of Child Health and Development [PO1 HD003008];
National Institute of Mental Health [R01 MH087554 1, R03MH086732, R03
MH092618-01A1]; Associates of the Child Study Center; CTSA from National
Center for Advancing Translational Science, components of the National
Institutes of Health (NIH) [UL1 RR024139]; NIH roadmap for Medical
Research; [1139078]
FX This study was supported by the National Institute of Child Health and
Development, PO1 HD003008, Project 1 (KC); National Institute of Mental
Health R01 MH087554 (KC); National Institute of Mental Health Grants #
1R03MH086732 (SM) and R03 MH092618-01A1 (FS); Expedition in Computing
(Award # 1139078); and the Associates of the Child Study Center. This
publication was also made possible by CTSA Grant Number UL1 RR024139
from National Center for Advancing Translational Science, components of
the National Institutes of Health (NIH), and NIH roadmap for Medical
Research. Its contents are solely the responsibility of the authors and
do not necessarily represent the official view of the NIH. We thank C.
Saulnier, K. Tsatsanis, S. Kim, J. Koller, A. Steiner, T. Vernon, A.
Snow, T. Goldsmith, K. Bearss, A. Carney, K. Bailey, E. Simmons, S.
Austin, and R. Paul for their contribution to the sample
characterization as well as J. Bradshaw, B. Butler, G. Chen, M. Coffman,
J. Latz Davis, A. Dowd, R. Doggett, J. Garzarek, E. Gisin, M. Meltvedt,
K. O'Loughlin, P. Ogston-Nobile, E. Prince, and J. Reed for assistance
in data collection. We thank J. A. Kelley and A. P. Lin for their edits
on this manuscript.
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NR 90
TC 8
Z9 8
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 FEB 1
PY 2014
VL 75
IS 3
BP 231
EP 237
DI 10.1016/j.biopsych.2013.07.009
PG 7
WC Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 281WA
UT WOS:000329130500012
PM 23954107
ER
PT J
AU Chu-Ky, S
Bui, TK
Nguyen, TL
Ho, PH
AF Chu-Ky, Son
Bui, Thi-Khanh
Nguyen, Tien-Long
Ho, Phu-Ha
TI Acid adaptation to improve viability and X-prolyl dipeptidyl
aminopeptidase activity of the probiotic bacterium Lactobacillus
fermentum HA6 exposed to simulated gastrointestinal tract conditions
SO INTERNATIONAL JOURNAL OF FOOD SCIENCE AND TECHNOLOGY
LA English
DT Article
DE Acid adaptation; cross-protection; Lactobacillus fermentum HA6;
probiotic; simulated gastrointestinal condition; viability; X-prolyl
dipeptidyl aminopeptidase probiotic
ID GLUCOSE-OXIDASE; OPIOID-PEPTIDES; STRESS; YOGURT; AUTISM; PLANTARUM;
PATTERNS
AB In this work, the viability of the probiotic bacterium Lactobacillus fermentum HA6 isolated from naturally fermented vegetables in Vietnam was improved by growing the bacterium into a mild acid condition (pH 4.0). Viability and probiotic functionality [X-prolyl dipeptidyl aminopeptidase (PepX) activity] of the acid-adapted bacterium exposed to simulated gastrointestinal conditions were investigated. After 180min in the simulated gastric juice (0.3g/L pepsin, pH 2.0), the viability of acid-adapted L.fermentum HA6 (11.5%) was higher than that of control L.fermentum HA6 (2.2%). Specific PepX activity of acid-adapted cells (24.5 U/mg) was higher than that of control cells (17.8 U/mg). After 180-min exposure to the simulated small intestinal medium (0.3g/L bile salts, 0.1g/L pancreatin, pH 8.0), the viability of acid-adapted L.fermentum HA6 (13.5%) was twofold as high as that of control L fermentum HA6 (8.0%). Our results suggested that acid adaptation has a key role in acquiring cross-protection mechanism, which in this study resulted in higher survival of L.fermentum HA6 after simulated gastrointestinal stresses. The strategy of acid adaptation could be valuable for the production of robust probiotics.
C1 [Chu-Ky, Son; Bui, Thi-Khanh; Nguyen, Tien-Long; Ho, Phu-Ha] Hanoi Univ Sci & Technol, Dept Food Technol, Sch Biotechnol & Food Technol, Hanoi 10000, Vietnam.
RP Chu-Ky, S (reprint author), Hanoi Univ Sci & Technol, Dept Food Technol, Sch Biotechnol & Food Technol, 1 Dai Co Viet, Hanoi 10000, Vietnam.
EM son.chuky@hust.edu.vn; ha.hophu@hust.edu.vn
FU Vietnam National Foundation for Science and Technology Development
(NAFOSTED)
FX We thank Vietnam National Foundation for Science and Technology
Development (NAFOSTED) for funding this work.
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NR 29
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0950-5423
EI 1365-2621
J9 INT J FOOD SCI TECH
JI Int. J. Food Sci. Technol.
PD FEB
PY 2014
VL 49
IS 2
BP 565
EP 570
DI 10.1111/ijfs.12338
PG 6
WC Food Science & Technology
SC Food Science & Technology
GA 288BC
UT WOS:000329585800032
ER
PT J
AU Chudal, R
Sourander, A
Polo-Kantola, P
Hinkka-Yli-Salomaki, S
Lehti, V
Sucksdorff, D
Gissler, M
Brown, AS
AF Chudal, Roshan
Sourander, Andre
Polo-Kantola, Paivi
Hinkka-Yli-Salomaki, Susanna
Lehti, Venla
Sucksdorff, Dan
Gissler, Mika
Brown, Alan S.
TI Perinatal factors and the risk of bipolar disorder in Finland
SO JOURNAL OF AFFECTIVE DISORDERS
LA English
DT Article
DE Obstetric complications; Perinatal complications; Gestational age; Fetal
growth; Bipolar disorder
ID LOW-BIRTH-WEIGHT; OBSTETRIC COMPLICATIONS; SOCIOECONOMIC-STATUS;
MATERNAL SMOKING; CESAREAN-SECTION; FETAL-GROWTH; SCHIZOPHRENIA; AUTISM;
POPULATION; DENMARK
AB Background: Complications during the perinatal period have been associated with neurodevelopmental disorders like schizophrenia and autism. However, similar studies on bipolar disorder (BPD) have been limited and the findings are inconsistent. The aim of this study was to examine the association between perinatal risk factors and BPD.
Methods: This nested case control study, based on the Finnish Prenatal Study of Bipolar Disorders (FIPS-B), identified 724 cases and 1419 matched controls from population based registers. Conditional logistic regression was used to examine the associations between perinatal factors and BPD adjusting for potential confounding due to maternal age, psychiatric history and educational level, place of birth, number of previous births and maternal smoking during pregnancy.
Results: Children delivered by planned cesarean section had a 2.5-fold increased risk of BPD (95% CI: 1.32-4.78, P <0.01). No association was seen between other examined perinatal risk factors and BPD.
Limitations: The limitations of this study include: the restriction in the sample to treated cases of BPD in the population, and usage of hospital based clinical diagnosis for case ascertainment. In addition, in spite of the large sample size, there was low power to detect associations for certain exposures including the lowest birth weight category and pre-term birth.
Conclusions: Birth by planned cesarean section was associated with risk of BPD, but most other perinatal risk factors examined in this study were not associated with BPD. Larger studies with greater statistical power to detect less common exposures and studies utilizing prospective biomarker-based exposures are necessary in the future.(C) 2013 Elsevier B.V. All rights reserved.
C1 [Chudal, Roshan; Sourander, Andre; Hinkka-Yli-Salomaki, Susanna; Lehti, Venla; Sucksdorff, Dan; Gissler, Mika] Univ Turku, Dept Child Psychiat, Turku 20014, Finland.
[Sourander, Andre] Turku Univ Hosp, Dept Child Psychiat, FIN-20520 Turku, Finland.
[Sourander, Andre; Brown, Alan S.] Columbia Univ, Coll Phys & Surg, New York State Psychiat Inst, Dept Psychiat, New York, NY USA.
[Sourander, Andre] Univ Tromso, Reg Ctr Child & Youth Mental Hlth & Child Welf, N-9001 Tromso, Norway.
[Polo-Kantola, Paivi] Turku Univ Hosp, Dept Obstet & Gynecol, FIN-20520 Turku, Finland.
[Polo-Kantola, Paivi] Univ Turku, Turku 20014, Finland.
[Gissler, Mika] Nord Sch Publ Hlth, Gothenburg, Sweden.
[Gissler, Mika] Natl Inst Hlth & Welf, Helsinki, Finland.
[Brown, Alan S.] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY USA.
RP Chudal, R (reprint author), Univ Turku, Fac Med, Inst Clin Med, Res Ctr Child Psychiat, Lemminkaisenkatu 3,Teutori 3rd Floor, Turku 20014, Finland.
EM roschu@utu.fi
RI Chudal, Roshan/C-1067-2015
FU NARSAD Independent Investigator Award, USA; Sigrid Juselius Foundation,
Finland; [K02 MH065422-10]
FX The study was supported by grants from NARSAD Independent Investigator
Award, USA (A.S.), the Sigrid Juselius Foundation, Finland (A.S.), and
K02 MH065422-10 (A.S.B.)
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NR 49
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0327
EI 1573-2517
J9 J AFFECT DISORDERS
JI J. Affect. Disord.
PD FEB
PY 2014
VL 155
BP 75
EP 80
DI 10.1016/j.jad.2013.10.026
PG 6
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 287XB
UT WOS:000329574500010
PM 24215899
ER
PT J
AU Cascio, CJ
Foss-Feig, JH
Heacock, J
Schauder, KB
Loring, WA
Rogers, BP
Pryweller, JR
Newsom, CR
Cockhren, J
Cao, AZ
Bolton, S
AF Cascio, Carissa J.
Foss-Feig, Jennifer H.
Heacock, Jessica
Schauder, Kimberly B.
Loring, Whitney A.
Rogers, Baxter P.
Pryweller, Jennifer R.
Newsom, Cassandra R.
Cockhren, Jurnell
Cao, Aize
Bolton, Scott
TI Affective neural response to restricted interests in autism spectrum
disorders
SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
LA English
DT Article
DE Autism; restricted interests; reward; repetitive behavior; fMRI; insula;
salience
ID REPETITIVE BEHAVIOR; CIRCUMSCRIBED INTERESTS; AMYGDALA; CHILDREN; FMRI
AB BackgroundRestricted interests are a class of repetitive behavior in autism spectrum disorders (ASD) whose intensity and narrow focus often contribute to significant interference with daily functioning. While numerous neuroimaging studies have investigated executive circuits as putative neural substrates of repetitive behavior, recent work implicates affective neural circuits in restricted interests. We sought to explore the role of affective neural circuits and determine how restricted interests are distinguished from hobbies or interests in typical development.
MethodsWe compared a group of children with ASD to a typically developing (TD) group of children with strong interests or hobbies, employing parent report, an operant behavioral task, and functional imaging with personalized stimuli based on individual interests.
ResultsWhile performance on the operant task was similar between the two groups, parent report of intensity and interference of interests was significantly higher in the ASD group. Both the ASD and TD groups showed increased BOLD response in widespread affective neural regions to the pictures of their own interest. When viewing pictures of other children's interests, the TD group showed a similar pattern, whereas BOLD response in the ASD group was much more limited. Increased BOLD response in the insula and anterior cingulate cortex distinguished the ASD from the TD group, and parent report of the intensity and interference with daily life of the child's restricted interest predicted insula response.
ConclusionsWhile affective neural network response and operant behavior are comparable in typical and restricted interests, the narrowness of focus that clinically distinguishes restricted interests in ASD is reflected in more interference in daily life and aberrantly enhanced insula and anterior cingulate response to individuals' own interests in the ASD group. These results further support the involvement of affective neural networks in repetitive behaviors in ASD.
C1 [Cascio, Carissa J.; Heacock, Jessica; Schauder, Kimberly B.; Loring, Whitney A.; Newsom, Cassandra R.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37212 USA.
[Cascio, Carissa J.; Loring, Whitney A.; Pryweller, Jennifer R.; Newsom, Cassandra R.] Vanderbilt Kennedy Ctr, Nashville, TN USA.
[Foss-Feig, Jennifer H.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
[Rogers, Baxter P.] Vanderbilt Univ, Dept Radiol & Radiol Sci, Nashville, TN 37212 USA.
[Rogers, Baxter P.; Pryweller, Jennifer R.; Cao, Aize] Vanderbilt Univ, Inst Imaging Sci, Nashville, TN 37212 USA.
[Pryweller, Jennifer R.] Vanderbilt Univ, Nashville, TN 37212 USA.
[Cascio, Carissa J.; Loring, Whitney A.; Newsom, Cassandra R.] Vanderbilt Univ, Dept Pediat, Nashville, TN 37212 USA.
[Cockhren, Jurnell] Vanderbilt Univ, Vanderbilt Vis Res Ctr, Nashville, TN 37212 USA.
[Bolton, Scott] Childrens Hosp, Cincinnati, OH 45229 USA.
RP Cascio, CJ (reprint author), Vanderbilt Univ, Dept Psychiat, 1601 23rd Ave South,Suite 3057, Nashville, TN 37212 USA.
EM carissa.cascio@vanderbilt.edu
FU NIMH [K01MH090232]; NCRR/NIH [1 UL1 RR024975]; [5P30EY008126-23]
FX The authors wish to thank Mikle South for providing helpful input on the
use of the YSII, Matthew Hoscheit, and Akua Cosby for assistance with
data collection and management, and David Royal for programming a pilot
version of the picture interest task. CJC is supported by K01MH090232
from NIMH; this research was also supported in part by 1 UL1 RR024975
from NCRR/NIH and 5P30EY008126-23.
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NR 32
TC 2
Z9 2
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0021-9630
EI 1469-7610
J9 J CHILD PSYCHOL PSYC
JI J. Child Psychol. Psychiatry
PD FEB
PY 2014
VL 55
IS 2
BP 162
EP 171
DI 10.1111/jcpp.12147
PG 10
WC Psychology, Developmental; Psychiatry; Psychology
SC Psychology; Psychiatry
GA 289BW
UT WOS:000329657200009
PM 24117668
ER
PT J
AU Domes, G
Kumbier, E
Heinrichs, M
Herpertz, SC
AF Domes, Gregor
Kumbier, Ekkehardt
Heinrichs, Markus
Herpertz, Sabine C.
TI Oxytocin Promotes Facial Emotion Recognition and Amygdala Reactivity in
Adults with Asperger Syndrome
SO NEUROPSYCHOPHARMACOLOGY
LA English
DT Article
DE oxytocin; emotion recognition; face perception; social cognition;
autism; fMRI
ID AUTISM SPECTRUM DISORDERS; RECEPTOR GENE OXTR; HIGH-FUNCTIONING AUTISM;
SOCIAL COGNITION; NEURAL CIRCUITRY; EYE-GAZE; FACE PERCEPTION; REVISED
VERSION; HUMANS; ASSOCIATION
AB The neuropeptide oxytocin has recently been shown to enhance eye gaze and emotion recognition in healthy men. Here, we report a randomized double-blind, placebo-controlled trial that examined the neural and behavioral effects of a single dose of intranasal oxytocin on emotion recognition in individuals with Asperger syndrome (AS), a clinical condition characterized by impaired eye gaze and facial emotion recognition. Using functional magnetic resonance imaging, we examined whether oxytocin would enhance emotion recognition from facial sections of the eye vs the mouth region and modulate regional activity in brain areas associated with face perception in both adults with AS, and a neurotypical control group. Intranasal administration of the neuropeptide oxytocin improved performance in a facial emotion recognition task in individuals with AS. This was linked to increased left amygdala reactivity in response to facial stimuli and increased activity in the neural network involved in social cognition. Our data suggest that the amygdala, together with functionally associated cortical areas mediate the positive effect of oxytocin on social cognitive functioning in AS.
C1 [Domes, Gregor; Heinrichs, Markus] Univ Freiburg, Dept Psychol, Lab Biol & Personal Psychol, D-79104 Freiburg, Germany.
[Domes, Gregor; Heinrichs, Markus] Univ Freiburg, Univ Med Ctr, Freiburg Brain Imaging Ctr, D-79106 Freiburg, Germany.
[Kumbier, Ekkehardt] Univ Rostock, Dept Psychiat & Psychotherapy, D-18055 Rostock, Germany.
[Herpertz, Sabine C.] Heidelberg Univ, Ctr Psychosocial Med, Dept Gen Psychiat, Heidelberg, 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 [Do1312/1-1, Do1312/2-1]
FX This study was supported by the Deutsche Forschungsgemeinschaft, DFG
(Do1312/1-1 and Do1312/2-1). The authors declare no conflict of
interest.
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NR 66
TC 6
Z9 6
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0893-133X
EI 1740-634X
J9 NEUROPSYCHOPHARMACOL
JI Neuropsychopharmacology
PD FEB
PY 2014
VL 39
IS 3
BP 698
EP 706
DI 10.1038/npp.2013.254
PG 9
WC Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 291PZ
UT WOS:000329842600018
PM 24067301
ER
PT J
AU Whyte, EM
Nelson, KE
Scherf, KS
AF Whyte, Elisabeth M.
Nelson, Keith E.
Scherf, K. Suzanne
TI Idiom, Syntax, and Advanced Theory of Mind Abilities in Children With
Autism Spectrum Disorders
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE autism; language; developmental disorders; figurative; social
communication
ID SEMANTIC-PRAGMATIC DIFFICULTIES; ASPERGER-SYNDROME; PSYCHOMETRIC
EVALUATION; FALSE-BELIEF; COMPREHENSION; LANGUAGE; ADOLESCENTS;
FAMILIARITY; TRANSPARENCY; ADULTS
AB Purpose: When researchers investigate figurative language abilities (including idioms) in children with autism spectrum disorder (ASD), syntax abilities may be more important than once considered. In addition, there are limitations to the overreliance on false-belief tasks to measure theory of mind (TOM) abilities. In the current study, the authors investigated idiom, syntax, and advanced TOM abilities in children with ASD compared to children with typical development (TD).
Method: Twenty-six children with ASD, ages 5 to 12 years, were compared to individuals in each of 2 control groups of children with TD: 1 matched on chronological age and nonverbal IQ, and 1 matched on syntax age-equivalence and raw scores. Idiom comprehension, syntax, vocabulary, and 2 measures of advanced TOM abilities were examined.
Results: Although children with ASD performed worse on idiom comprehension compared to the age-matched group with TD, they exhibited comparable idiom performance to the syntax-matched group with TD. Advanced TOM abilities were related to idiom comprehension for children with ASD, but not for children with TD, above the contributions of basic language abilities.
Conclusion: Syntax abilities should be used as a matching variable when examining figurative or other late-developing language skills.
C1 [Whyte, Elisabeth M.; Nelson, Keith E.; Scherf, K. Suzanne] Penn State Univ, University Pk, PA 16802 USA.
RP Whyte, EM (reprint author), Penn State Univ, University Pk, PA 16802 USA.
EM emv131@psu.edu
FU Penn State Liberal Arts dissertation improvement award
FX We thank several research assistants for their help in data collection
for this study, including Caitlin Hall, Katherine Hansen, Jeffrey
Krystek, and Tyler Naill. We also thank the study families who made this
research possible. A Penn State Liberal Arts dissertation improvement
award to the first author provided funding for this project.
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NR 56
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 FEB
PY 2014
VL 57
IS 1
BP 120
EP 130
DI 10.1044/1092-4388(2013/12-0308)
PG 11
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ0EM
UT WOS:000347919100011
PM 23882003
ER
PT J
AU Brady, N
Warren, SF
Fleming, K
Keller, J
Sterling, A
AF Brady, Nancy
Warren, Steven F.
Fleming, Kandace
Keller, Juliana
Sterling, Audra
TI Effect of Sustained Maternal Responsivity on Later Vocabulary
Development in Children With Fragile X Syndrome
SO JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
LA English
DT Article
DE fragile X syndrome; language development; maternal responsivity;
longitudinal
ID YOUNG-CHILDREN; DOWN-SYNDROME; LANGUAGE-DEVELOPMENT; EXPRESSIVE
VOCABULARY; EARLY-CHILDHOOD; INTENTIONAL COMMUNICATION; RECEPTIVE
VOCABULARY; AUTISM; MOTHERS; INTERVENTION
AB Purpose: This research explored whether sustained maternal responsivity (a parent-child interaction style characterized by warmth, nurturance, and stability as well as specific behaviors, such as contingent positive responses to child initiations) was a significant variable predicting vocabulary development of children with fragile X syndrome through age 9 years.
Method: Fifty-five mother-child dyads were followed longitudinally when children were between 2 and 10 years of age. Measures of maternal responsivity and child vocabulary were obtained at regular intervals starting at age 2.9 years. Sustained responsivity was indicated by the average responsivity measured over Observations 2-5. Responsivity at the 1st time period, autism symptoms, and cognitive development were used as control variables.
Results: After controlling for development and autism symptoms, the authors found significant effects for sustained responsivity on receptive vocabulary, expressive vocabulary, and the rate of different words children produced through age 9.
Conclusions: Maternal responsivity, which is typically a variable of interest during early childhood, continues to be a significant variable, predicting vocabulary development through the middle childhood period. Thus, responsivity is a potential target for language interventions through this age period.
C1 [Brady, Nancy; Warren, Steven F.; Fleming, Kandace; Keller, Juliana; Sterling, Audra] Univ Kansas, Lawrence, KS 66045 USA.
RP Brady, N (reprint author), Univ Kansas, Lawrence, KS 66045 USA.
EM nbrady@ku.edu
FU National Institute of Child Health and Human Development [P30 HD003110,
P30 HD002528]
FX This research was supported by National Institute of Child Health and
Human Development Grants P30 HD003110 and P30 HD002528. We wish to thank
Michaela Beals, Alyssa Lokits, Abbey Campbell, and Ben Hase, who
assisted with data collection; and the families who participated in this
research.
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NR 78
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 FEB
PY 2014
VL 57
IS 1
BP 212
EP 226
DI 10.1044/1092-4388(2013/12-0341)
PG 15
WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation
GA AZ0EM
UT WOS:000347919100018
PM 24023370
ER
PT J
AU Shishido, E
Aleksic, B
Ozaki, N
AF Shishido, Emiko
Aleksic, Branko
Ozaki, Norio
TI Copy-number variation in the pathogenesis of autism spectrum disorder
SO PSYCHIATRY AND CLINICAL NEUROSCIENCES
LA English
DT Article
DE autism spectrum disorders; copy-number variation; de novo mutation;
schizophrenia; signal transduction
ID 22Q11.2 DELETION SYNDROME; HUMAN GENOME; NEUROPSYCHIATRIC DISORDERS;
STRUCTURAL VARIATION; DEVELOPMENTAL DELAY; GENETIC-VARIATION;
REARRANGEMENTS; SCHIZOPHRENIA; RECURRENT; INSIGHTS
AB Autism spectrum disorder is a neurodevelopmental disorder present in 1% of the population, characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Approximately 10% of the autism spectrum disorder population is thought to have large chromosomal rearrangements. Copy-number variations (CNV) alter the genome structure either by duplication or deletion of a chromosomal region. The association between CNV and autism susceptibility has become more apparent through the use of methods based on comparative genomic hybridization in screening CNV. The nature of the high CNV rate in the human genome is partly explained by non-allelic homologous recombination between flanking repeated sequences derived from multiple copies of transposons or mobile genetic elements. There are hotspots for CNV in the human genome, such as 16p11.2 and 22q11.2. Genes involved in CNV are supposed to have copy-number dose-dependent effects on the behavior of affected individuals. Animal models give insight into the possible interactions between core genetic loci and additional factors contributing to the phenotypes of each individual. If affected genes code for cellular signaling molecules, reducing the dosage in the intracellular signaling pathway may result in the malfunction of the nervous system. The genetic background of autism spectrum disorder is highly heterogenic and most common or rare CNV do not lead to autism spectrum disorders in the majority of cases, but may occasionally increase the risk of developing an autism spectrum disorder.
C1 [Shishido, Emiko] Natl Inst Physiol Sci, Tokyo, Japan.
[Shishido, Emiko] Japan Soc Promot Sci, Tokyo, Japan.
[Shishido, Emiko; Aleksic, Branko; Ozaki, Norio] Nagoya Univ, Dept Psychiat, Grad Sch Med, Nagoya, Aichi 4668550, Japan.
RP Ozaki, N (reprint author), Nagoya Univ, Dept Psychiat, Grad Sch Med, Showa Ku, 65 Tsurumai Cho, Nagoya, Aichi 4668550, Japan.
EM ozaki-n@med.nagoya-u.ac.jp
RI Aleksic, Branko/G-1540-2011; Ozaki, Norio/M-8908-2014
OI Aleksic, Branko/0000-0001-8982-4580; Ozaki, Norio/0000-0002-7360-4898
FU Ministry of Education, Culture, Sports, Science and Technology of Japan;
Specific Research Fund for East Japan Great Earthquake Revival by The
New Technology Development Foundation
FX Funding for this study was provided by research grants from '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 and The Specific
Research Fund 2012 for East Japan Great Earthquake Revival by The New
Technology Development Foundation. Grant-in-Aid for Scientific Research
on Innovative Areas, 'Glial assembly: A new regulatory machinery of
brain function and disorders'.
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NR 62
TC 3
Z9 4
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 FEB
PY 2014
VL 68
IS 2
BP 85
EP 95
DI 10.1111/pcn.12128
PG 11
WC Clinical Neurology; Neurosciences; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AX4QR
UT WOS:000346917100001
PM 24372918
ER
PT J
AU Riggs, ER
Wain, KE
Riethmaier, D
Smith-Packard, B
Faucett, WA
Hoppman, N
Thorland, EC
Patel, VC
Miller, DT
AF Riggs, E. R.
Wain, K. E.
Riethmaier, D.
Smith-Packard, B.
Faucett, W. A.
Hoppman, N.
Thorland, E. C.
Patel, V. C.
Miller, D. T.
TI Chromosomal microarray impacts clinical management
SO CLINICAL GENETICS
LA English
DT Article
DE array comparative genomic hybridization; chromosomal microarray
analysis; genetic testing; patient care management
ID AUTISM SPECTRUM DISORDERS; QUALITY-STANDARDS-SUBCOMMITTEE;
CHILD-NEUROLOGY-SOCIETY; COMPARATIVE GENOMIC HYBRIDIZATION; GLOBAL
DEVELOPMENTAL DELAY; FRAGILE-X-SYNDROME; MENTAL-RETARDATION;
AMERICAN-ACADEMY; DIAGNOSTIC YIELD; INTELLECTUAL DISABILITY
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C1 [Riggs, E. R.; Patel, V. C.] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA.
[Wain, K. E.; Hoppman, N.; Thorland, E. C.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.
[Riethmaier, D.] GeneDx, Gaithersburg, MD USA.
[Smith-Packard, B.; Faucett, W. A.] Geisinger Hlth Syst, Danville, PA USA.
[Miller, D. T.] Childrens Hosp, Div Genet, Boston, MA 02115 USA.
[Miller, D. T.] Childrens Hosp, Dept Lab Med, Boston, MA 02115 USA.
RP Miller, DT (reprint author), Childrens Hosp, Div Genet, Hunnewell 5,300 Longwood Ave, Boston, MA 02115 USA.
EM david.miller2@childrens.harvard.edu
FU NIH [HD064525]
FX The authors would like to thank Erin Baldwin Kaminsky, Christa Lese
Martin, and David H. Ledbetter for critical review of the manuscript.
This work was supported by NIH Grant HD064525.
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Wellmark, CHROM MICR CMA AN GE
NR 38
TC 4
Z9 4
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 FEB
PY 2014
VL 85
IS 2
BP 147
EP 153
DI 10.1111/cge.12107
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA 287AZ
UT WOS:000329511700009
PM 23347240
ER
PT J
AU Miller, LL
Scharf, JM
Mathews, CA
Ben-Shlomo, Y
AF Miller, Laura L.
Scharf, Jeremiah M.
Mathews, Carol A.
Ben-Shlomo, Yoav
TI Tourette syndrome and chronic tic disorder are associated with lower
socio-economic status: findings from the Avon Longitudinal Study of
Parents and Children cohort
SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
LA English
DT Article
ID PREVALENCE; RISK
AB AimOnly a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample.
MethodData are from 7152 children born during 1991 and 1992 in the county of Avon, UK, from the Avon Longitudinal Study of Parents and Children, who were followed up to age 13. After exclusions for intellectual disability* and autism, 6768 participants (3351 males [49.5%]) and 3417 females [50.5%]) remained. Parental SES was assessed using multiple measures during pregnancy and at 33months of age. Presence of Tourette syndrome or chronic tics was determined from repeated maternal questionnaires up to when the child was 13years of age.
ResultsMultiple SES measures were associated with an approximately twofold increased risk of Tourette syndrome and chronic tics. A postnatal composite factor score (lowest vs highest tertile odds ratio 2.09, 95% confidence interval 1.38-3.47) provided the best fit to the data.
InterpretationsAs is seen in several childhood conditions, such as cerebral palsy and autism, lower SES is a risk factor for Tourette syndrome/chronic tics. Potential explanations include differential exposure to environmental risk factors or parental psychopathology as a measure of an increased genetic risk leading to decreased parental SES.
C1 [Miller, Laura L.; Ben-Shlomo, Yoav] Univ Bristol, Sch Social & Community Med, Bristol BS8 2BN, Avon, England.
[Scharf, Jeremiah M.] Massachusetts Gen Hosp, Dept Neurol, Psychiat & Neurodev Genet Unit, Ctr Human Genet Res, Boston, MA 02114 USA.
[Scharf, Jeremiah M.] Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA.
[Scharf, Jeremiah M.] Brigham & Womens Hosp, Dept Neurol, Div Cognit & Behav Neurol, Boston, MA 02115 USA.
[Mathews, Carol A.] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA.
RP Miller, LL (reprint author), Univ Bristol, Sch Social & Community Med, Oakfield House, Bristol BS8 2BN, Avon, England.
EM l.l.miller@bristol.ac.uk
FU Tourette Syndrome Association, USA; NIH [MH085057]; University of
Bristol; UK Medical Research Council [74882]; Wellcome Trust [076467]
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. LLM was funded by the Tourette
Syndrome Association, USA. JMS was funded by the Tourette Syndrome
Association, USA, and NIH MH085057. CAM was funded by the Tourette
Syndrome Association, USA. YB-S was funded by a tenured position at the
University of Bristol and the Tourette Syndrome Association, USA. No
authors have any conflicts of interest. The UK Medical Research Council
(grant ref. 74882) the Wellcome Trust (grant ref. 076467) and the
University of Bristol provide core support for ALSPAC. This research was
specifically funded by the Tourette Syndrome Association, USA. The
funders had no role in the design, data collection, analysis, or
manuscript preparation.
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NR 22
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 FEB
PY 2014
VL 56
IS 2
BP 157
EP 163
DI 10.1111/dmcn.12318
PG 7
WC Clinical Neurology; Pediatrics
SC Neurosciences & Neurology; Pediatrics
GA 287LU
UT WOS:000329544100007
PM 24138188
ER
PT J
AU Li, H
Xue, Z
Ellmore, TM
Frye, RE
Wong, STC
AF Li, Hai
Xue, Zhong
Ellmore, Timothy M.
Frye, Richard E.
Wong, Stephen T. C.
TI Network-Based Analysis Reveals Stronger Local Diffusion-Based
Connectivity and Different Correlations with Oral Language Skills in
Brains of Children with High Functioning Autism Spectrum Disorders
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE autism spectrum disorders; brain network; connectivity; diffusion tensor
imaging; oral language
ID HUMAN CEREBRAL-CORTEX; WHITE-MATTER; SENTENCE COMPREHENSION; NEURAL
SYSTEMS; STRUCTURAL NETWORKS; WEIGHTED MRI; GRAPH-THEORY; SMALL-WORLD;
TRACTOGRAPHY; UNDERCONNECTIVITY
AB Neuroimaging has uncovered both long-range and short-range connectivity abnormalities in the brains of individuals with autism spectrum disorders (ASD). However, the precise connectivity abnormalities and the relationship between these abnormalities and cognition and ASD symptoms have been inconsistent across studies. Indeed, studies find both increases and decreases in connectivity, suggesting that connectivity changes in the ASD brain are not merely due to abnormalities in specific connections, but rather, due to changes in the structure of the network in which the brain areas interact (i.e., network topology). In this study, we examined the differences in the network topology between high-functioning ASD patients and age and gender matched typically developing (TD) controls. After quantitatively characterizing the whole-brain connectivity network using diffusion tensor imaging (DTI) data, we searched for brain regions with different connectivity between ASD and TD. A measure of oral language ability was then correlated with the connectivity changes to determine the functional significance of such changes. Whole-brain connectivity measures demonstrated greater local connectivity and shorter path length in ASD as compared to TD. Stronger local connectivity was found in ASD, especially in regions such as the left superior parietal lobule, the precuneus and angular gyrus, and the right supramarginal gyrus. The relationship between oral language ability and local connectivity within these regions was significantly different between ASD and TD. Stronger local connectivity was associated with better performance in ASD and poorer performance in TD. This study supports the notion that increased local connectivity is compensatory for supporting cognitive function in ASD. Hum Brain Mapp 35:396-413, 2014. (c) 2012 Wiley Periodicals, Inc.
C1 [Li, Hai; Xue, Zhong; Wong, Stephen T. C.] Methodist Hosp, Weill Cornell Med Coll, Res Inst, Dept Syst Med & Bioengn, Houston, TX 77030 USA.
[Ellmore, Timothy M.] Univ Texas Hlth Sci Ctr Houston, Dept Neurosurg, Houston, TX 77030 USA.
[Frye, Richard E.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Div Autism Res, Little Rock, AR 72202 USA.
RP Frye, RE (reprint author), Univ Arkansas Med Sci, Arkansas Childrens Hosp, Res Inst, Slot 512-41B,Room R4025,13 Childrens Way, Little Rock, AR 72202 USA.
EM REFrye@uams.edu
RI Xue, Zhong/I-3414-2012
FU Ting Tsung and Wei Fong Chao Center for BRAIN; Department of Systems
Medicine and Bioengineering, TMHRI, Weill Cornell Medical College, John
S Dunn Research Foundation [NINDSNS046565]
FX Contract grant sponsor: Ting Tsung and Wei Fong Chao Center for BRAIN;
Contract grant sponsor: Department of Systems Medicine and
Bioengineering, TMHRI, Weill Cornell Medical College, John S Dunn
Research Foundation (to STCW); Contract grant number: NINDSNS046565 (to
REF).
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NR 87
TC 6
Z9 6
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 FEB
PY 2014
VL 35
IS 2
BP 396
EP 413
DI 10.1002/hbm.22185
PG 18
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 287HJ
UT WOS:000329532400013
PM 23008187
ER
PT J
AU Nebel, MB
Joel, SE
Muschelli, J
Barber, AD
Caffo, BS
Pekar, JJ
Mostofsky, SH
AF Nebel, Mary Beth
Joel, Suresh E.
Muschelli, John
Barber, Anita D.
Caffo, Brian S.
Pekar, James J.
Mostofsky, Stewart H.
TI Disruption of Functional Organization Within the Primary Motor Cortex in
Children With Autism
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE resting state; functional connectivity; clustering; motor cortex;
autistic disorder
ID LATERAL PARIETAL CORTEX; RESTING-STATE NETWORKS; SPECTRUM DISORDERS;
HUMAN BRAIN; DIAGNOSTIC-INTERVIEW; ASPERGERS-SYNDROME; LANGUAGE
DISORDER; CORPUS-CALLOSUM; CONNECTIVITY; FMRI
AB Accumulating evidence suggests that motor impairments are prevalent in autism spectrum disorder (ASD), relate to the social and communicative deficits at the core of the diagnosis and may reflect abnormal connectivity within brain networks underlying motor control and learning. Parcellation of resting-state functional connectivity data using spectral clustering approaches has been shown to be an effective means of visualizing functional organization within the brain but has most commonly been applied to explorations of normal brain function. This article presents a parcellation of a key area of the motor network, the primary motor cortex (M1), a key area of the motor control network, in adults, typically developing (TD) children and children with ASD and introduces methods for selecting the number of parcels, matching parcels across groups and testing group differences. The parcellation is based solely on patterns of connectivity between individual M1 voxels and all voxels outside of M1, and within all groups, a gross dorsomedial to ventrolateral organization emerged within M1 which was left-right symmetric. Although this gross organizational scheme was present in both groups of children, statistically significant group differences in the size and segregation of M1 parcels within regions of the motor homunculus corresponding to the upper and lower limbs were observed. Qualitative comparison of the M1 parcellation for children with ASD with that of younger and older TD children suggests that these organizational differences, with a lack of differentiation between lower limb/trunk regions and upper limb/hand regions, may be due, at least in part, to a delay in functional specialization within the motor cortex. Hum Brain Mapp 35:567-580, 2014. (c) 2012 Wiley Periodicals, Inc.
C1 [Nebel, Mary Beth; Muschelli, John; Barber, Anita D.; Mostofsky, Stewart H.] Kennedy Krieger Inst, Lab Neurocognit & Imaging Res, Baltimore, MD 21205 USA.
[Nebel, Mary Beth; Barber, Anita D.; Mostofsky, Stewart H.] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA.
[Joel, Suresh E.; Pekar, James J.] Kennedy Krieger Inst, FM Kirby Res Ctr Funct Brain Imaging, Baltimore, MD 21205 USA.
[Joel, Suresh E.; Pekar, James J.] Johns Hopkins Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD USA.
[Muschelli, John; Caffo, Brian S.] Johns Hopkins Bloomberg, Sch Publ Hlth, Dept Biostat, Baltimore, MD USA.
[Mostofsky, Stewart H.] Johns Hopkins Sch Med, Dept Psychiat, Baltimore, MD USA.
RP Nebel, MB (reprint author), Kennedy Krieger Inst, 716 N Broadway, Baltimore, MD 21205 USA.
EM mb@jhmi.edu
RI Nebel, Mary Beth/D-3305-2015
OI Nebel, Mary Beth/0000-0003-0185-3382
FU National Institute of Biomedical Imaging and Bioengineering
[R01EB012547]; National Institute of Neurological Disorders and Stroke
[R01NS060910, R01NS048527]; National Institute of Mental Health
[R01MH078160, R01MH085328]; Autism Speaks Foundation
FX Contract grant sponsor: National Institute of Biomedical Imaging and
Bioengineering; Contract grant number: R01EB012547; Contract grant
sponsor: National Institute of Neurological Disorders and Stroke;
Contract grant numbers: R01NS060910, R01NS048527; Contract grant
sponsor: National Institute of Mental Health; Contract grant numbers:
R01MH078160, R01MH085328; Contract grant sponsor: Autism Speaks
Foundation.
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NR 91
TC 7
Z9 7
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 1065-9471
EI 1097-0193
J9 HUM BRAIN MAPP
JI Hum. Brain Mapp.
PD FEB
PY 2014
VL 35
IS 2
BP 567
EP 580
DI 10.1002/hbm.22188
PG 14
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 287HJ
UT WOS:000329532400001
PM 23118015
ER
PT J
AU Wiggins, JL
Bedoyan, JK
Carrasco, M
Swartz, JR
Martin, DM
Monk, CS
AF Wiggins, Jillian Lee
Bedoyan, Jirair K.
Carrasco, Melisa
Swartz, Johnna R.
Martin, Donna M.
Monk, Christopher S.
TI Age-Related Effect of Serotonin Transporter Genotype on Amygdala and
Prefrontal Cortex Function in Adolescence
SO HUMAN BRAIN MAPPING
LA English
DT Article
DE functional MRI; 5-HTTLPR; development; affect; emotion; connectivity;
imaging genetics
ID AUTISM SPECTRUM DISORDERS; MAJOR DEPRESSIVE DISORDER; 5-HTTLPR
POLYMORPHISM; FACIAL EXPRESSIONS; MULTIPLE-REGRESSION; EMOTIONAL FACES;
NEURAL RESPONSE; PROMOTER REGION; HUMAN BRAIN; GENE
AB The S and L-G alleles of the serotonin transporter-linked polymorphic region (5-HTTLPR) lower serotonin transporter expression. These low-expressing alleles are linked to increased risk for depression and brain activation patterns found in depression (increased amygdala activation and decreased amygdala-prefrontal cortex connectivity). Paradoxically, serotonin transporter blockade relieves depression symptoms. Rodent models suggest that decreased serotonin transporter in early life produces depression that emerges in adolescence, whereas decreased serotonin transporter that occurs later in development ameliorates depression. However, no brain imaging research has yet investigated the moderating influence of human development on the link between 5-HTTLPR and effect-related brain function. We investigated the age-related effect of 5-HTTLPR on amygdala activation and amygdala-prefrontal cortex connectivity using a well-replicated probe, an emotional face task, in children and adolescents aged 9-19 years. A significant genotype-by-age interaction predicted amygdala activation, such that the low-expressing genotype (S/S and S/L-G) group showed a greater increase in amygdala activation with age compared to the higher expressing (L-A/L-A and S/L-A) group. Additionally, compared to the higher expressing group, the low-expressing genotype group exhibited decreased connectivity between the right amygdala and ventromedial prefrontal cortex with age. Findings indicate that low-expressing genotypes may not result in the corticolimbic profile associated with depression risk until later adolescence. Hum Brain Mapp 35:646-658, 2014. (c) 2012 Wiley-Periodicals, Inc.
C1 [Wiggins, Jillian Lee; Swartz, Johnna R.; Monk, Christopher S.] Univ Michigan, Dept Psychol, Ann Arbor, MI USA.
[Bedoyan, Jirair K.; Martin, Donna M.] Univ Michigan, Dept Pediat, Div Pediat Genet, Ann Arbor, MI 48109 USA.
[Carrasco, Melisa; Martin, Donna M.; Monk, Christopher S.] Univ Michigan, Neurosci Program, Ann Arbor, MI 48109 USA.
[Martin, Donna M.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA.
[Monk, Christopher S.] Univ Michigan, Dept Psychiat, Ann Arbor, MI 48109 USA.
[Monk, Christopher S.] Univ Michigan, Ctr Human Growth & Dev, Ann Arbor, MI 48109 USA.
RP Wiggins, JL (reprint author), 530 Church St, Ann Arbor, MI 48109 USA.
EM leejilli@umich.edu
RI Monk, Christopher/J-1805-2014
FU Autism Speaks Pre-doctoral Fellowship [4773]; Michigan Institute for
Clinical and Health Research (MICHR) Pre-doctoral Fellowship
[UL1RR024986]; Autism Speaks Grant [2573]; National Institutes of Health
[R01 NS54784, R01 DC009410, K12 HD028820]; MICHR Pilot Award [U024600];
Department of Pediatrics, University of Michigan [Elizabeth E. Kennedy
(Children's Research) Fund Award]
FX Contract grant sponsor: Autism Speaks Pre-doctoral Fellowship; Contract
grant number: 4773; Contract grant sponsor: Michigan Institute for
Clinical and Health Research (MICHR) Pre-doctoral Fellowship; Contract
grant number: UL1RR024986; Contract grant sponsor: Autism Speaks Grant;
Contract grant number: 2573; Contract grant sponsor: National Institutes
of Health; Contract grant numbers: R01 NS54784, R01 DC009410, K12
HD028820; Contract grant sponsor: MICHR Pilot Award; Contract grant
number: U024600; Contract grant sponsor: Department of Pediatrics,
University of Michigan [Elizabeth E. Kennedy (Children's Research) Fund
Award].
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NR 77
TC 4
Z9 5
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 FEB
PY 2014
VL 35
IS 2
BP 646
EP 658
DI 10.1002/hbm.22208
PG 13
WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical
Imaging
SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging
GA 287HJ
UT WOS:000329532400024
PM 23124623
ER
PT J
AU Moore, HW
Barton, EE
Chironis, M
AF Moore, Heather W.
Barton, Erin E.
Chironis, Maria
TI A Program for Improving Toddler Communication Through Parent Coaching
SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION
LA English
DT Article
DE infants and toddlers; speech and language delays; parent coaching
ID EARLY-CHILDHOOD PROGRAMS; LATE-TALKING TODDLERS; EARLY INTERVENTION;
YOUNG-CHILDREN; LANGUAGE; AUTISM; DISABILITIES; METAANALYSIS; EDUCATION;
SERVICES
AB The purpose of this manuscript was to describe a community-based program, Language and Play Everyday (LAPE), aimed at evaluating effective practices for enhancing parents' capacity to increase their toddlers' communication skills. LAPE was a parent education program focused on coaching parents to embed naturalistic language-enhancing strategies within daily routines. Participants included eight families of toddlers with expressive communication delays ranging in age from 22 to 36 months. LAPE was delivered using group and individual sessions. After participating in the program, parents increased their responsivity and use of other language-enhancing behaviors. Social validity measures indicated that parents were satisfied with procedures, goals, and outcomes of the project. Moreover, children improved their expressive language skills. Implications for future research and application are discussed.
C1 [Moore, Heather W.; Chironis, Maria] Univ Oregon, Eugene, OR 97403 USA.
[Barton, Erin E.] Univ Colorado, Denver, CO 80202 USA.
RP Moore, HW (reprint author), 5284 Univ Oregon, Commun Disorders & Sci Program, Eugene, OR 97403 USA.
EM hbmoore@uoregon.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 FEB
PY 2014
VL 33
IS 4
BP 212
EP 224
DI 10.1177/0271121413497520
PG 13
WC Education, Special
SC Education & Educational Research
GA 284MU
UT WOS:000329323800002
ER
PT J
AU Zhang, Y
Zhou, GX
Jin, J
Zhao, QB
Wang, XY
Cichocki, A
AF Zhang, Yu
Zhou, Guoxu
Jin, Jing
Zhao, Qibin
Wang, Xingyu
Cichocki, Andrzej
TI AGGREGATION OF SPARSE LINEAR DISCRIMINANT ANALYSES FOR EVENT-RELATED
POTENTIAL CLASSIFICATION IN BRAIN-COMPUTER INTERFACE
SO INTERNATIONAL JOURNAL OF NEURAL SYSTEMS
LA English
DT Article
DE Aggregation; brain-computer interface (BCI); electroencephalogram (EEG);
event-related potential (ERP); sparse linear discriminant analysis
ID EEG-BASED DIAGNOSIS; FUZZY SYNCHRONIZATION LIKELIHOOD; AUTISM SPECTRUM
DISORDER; COMMON SPATIAL-PATTERN; BCI COMPETITION 2003; SINGLE TRIAL
EEG; FEATURE-EXTRACTION; NEURAL-NETWORK; P300 SPELLER;
ALZHEIMERS-DISEASE
AB Two main issues for event-related potential (ERP) classification in brain-computer interface (BCI) application are curse-of-dimensionality and bias-variance tradeoff, which may deteriorate classification performance, especially with insufficient training samples resulted from limited calibration time. This study introduces an aggregation of sparse linear discriminant analyses (ASLDA) to overcome these problems. In the ASLDA, multiple sparse discriminant vectors are learned from differently l(1)-regularized least-squares regressions by exploiting the equivalence between LDA and least-squares regression, and are subsequently aggregated to form an ensemble classifier, which could not only implement automatic feature selection for dimensionality reduction to alleviate curse-of-dimensionality, but also decrease the variance to improve generalization capacity for new test samples. Extensive investigation and comparison are carried out among the ASLDA, the ordinary LDA and other competing ERP classification algorithms, based on different three ERP datasets. Experimental results indicate that the ASLDA yields better overall performance for single-trial ERP classification when insufficient training samples are available. This suggests the proposed ASLDA is promising for ERP classification in small sample size scenario to improve the practicability of BCI.
C1 [Zhang, Yu; Jin, Jing; Wang, Xingyu] E China Univ Sci & Technol, Key Lab Adv Control & Optimizat Chem Proc, Shanghai 200237, Peoples R China.
[Zhou, Guoxu; Zhao, Qibin; Cichocki, Andrzej] RIKEN Brain Sci Inst, Lab Adv Brain Signal Proc, Wako, Saitama, Japan.
[Cichocki, Andrzej] Polish Acad Sci, Syst Res Inst, PL-01447 Warsaw, Poland.
RP Zhang, Y (reprint author), E China Univ Sci & Technol, Key Lab Adv Control & Optimizat Chem Proc, Shanghai 200237, Peoples R China.
EM zhangyu0112@gmail.com; zhouguoxu@brain.riken.jp; jinjingat@gmail.com;
qbzhao@brain.riken.jp; xywang@ecust.edu.cn; a.cichocki@riken.jp
RI Zhao, Qibin/D-1689-2014; Cichocki, Andrzej/A-1545-2015
FU Nation Nature Science Foundation of China [61305028, 61074113, 61203127,
61103122, 61202155]; Fundamental Research Funds for the Central
Universities [WH1314023, WH1114038]; Shanghai Leading Academic
Discipline Project [B504]; JSPS KAKENHI Grant [24700154]
FX The authors sincerely thank the editor and the anonymous reviewers for
their insightful comments and suggestions that helped improve the paper.
This study was supported in part by the Nation Nature Science Foundation
of China under Grant 61305028, Grant 61074113, Grant 61203127, Grant
61103122, Grant 61202155, Fundamental Research Funds for the Central
Universities Grant WH1314023, Grant WH1114038, Shanghai Leading Academic
Discipline Project B504, and JSPS KAKENHI Grant 24700154.
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NR 79
TC 5
Z9 5
PU WORLD SCIENTIFIC PUBL CO PTE LTD
PI SINGAPORE
PA 5 TOH TUCK LINK, SINGAPORE 596224, SINGAPORE
SN 0129-0657
EI 1793-6462
J9 INT J NEURAL SYST
JI Int. J. Neural Syst.
PD FEB
PY 2014
VL 24
IS 1
AR 1450003
DI 10.1142/S0129065714500038
PG 15
WC Computer Science, Artificial Intelligence
SC Computer Science
GA 279FK
UT WOS:000328945600001
PM 24344691
ER
PT J
AU Locke, J
Kasari, C
Wood, JJ
AF Locke, Jill
Kasari, Connie
Wood, Jeffrey J.
TI Assessing Social Skills in Early Elementary-Aged Children With Autism
Spectrum Disorders: The Social Skills Q-Sort
SO JOURNAL OF PSYCHOEDUCATIONAL ASSESSMENT
LA English
DT Article
DE autism; social skills assessment; social involvement; social networks
ID PERVASIVE DEVELOPMENTAL DISORDERS; INTERVENTIONS; INVOLVEMENT;
CLASSROOMS
AB This study employed a newly developed measure, the Social Skills Q-Sort (SSQ), to assess paraprofessionals' and teachers' reports of social skills for children with and without ASD. Paraprofessionals and teachers showed good rater-agreement on the SSQ. ROC curve analyses yielded an excellent profile of sensitivity and specificity for discriminating between children with ASD and typically developing children. The paraprofessional SSQ converged with objective ratings of playground social behavior; however, there was little evidence of convergence between SSQ scores and parent and teacher ratings on questionnaire measures. The SSQ may be effective in screening for ASD and the severity of ASD-related social communication challenges.
C1 [Locke, Jill] Univ Penn, Philadelphia, PA 19104 USA.
[Kasari, Connie; Wood, Jeffrey J.] Univ Calif Los Angeles, Los Angeles, CA USA.
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NR 24
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0734-2829
EI 1557-5144
J9 J PSYCHOEDUC ASSESS
JI J. Psychoeduc. Assess.
PD FEB
PY 2014
VL 32
IS 1
BP 62
EP 76
DI 10.1177/0734282913485543
PG 15
WC Psychology, Educational
SC Psychology
GA 274LN
UT WOS:000328608000006
ER
PT J
AU Jimenez, BA
Lo, YY
Saunders, AF
AF Jimenez, Bree A.
Lo, Ya-yu
Saunders, Alicia F.
TI The Additive Effects of Scripted Lessons Plus Guided Notes on Science
Quiz Scores of Students With Intellectual Disability and Autism
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE scripted lessons; guided notes; science instruction; students with
intellectual disability; students with autism
ID SIGNIFICANT COGNITIVE DISABILITIES; INSTRUCTION
AB This study examined the effects of scripted lessons (SLs) alone and in combination with guided notes during science instruction on science quiz scores of three elementary students with moderate to severe intellectual disability and autism. This study used a multiple probe across three science units design with replication across students and included four conditions of baseline, SLs, scripted lessons plus guided notes (SLs + GNs), and maintenance. Results showed a change in level from baseline to the SLs condition for all three participants and additional slight improvement in scores during the SLs + GNs condition for two participants. Furthermore, acquisition of science content was maintained over time for all participants. Implications for research and practice are discussed.
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[Lo, Ya-yu; Saunders, Alicia F.] Univ North Carolina Charlotte, Charlotte, NC USA.
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NR 32
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
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PY 2014
VL 47
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BP 231
EP 244
DI 10.1177/0022466912437937
PG 14
WC Education, Special
SC Education & Educational Research
GA 276GB
UT WOS:000328735500003
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PT J
AU Carter, EW
Brock, ME
Trainor, AA
AF Carter, Erik W.
Brock, Matthew E.
Trainor, Audrey A.
TI Transition Assessment and Planning for Youth With Severe Intellectual
and Developmental Disabilities
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE transition assessment; transition planning; teacher and parent
perceptions; intellectual and developmental disabilities
ID AUTISM SPECTRUM DISORDERS; YOUNG-ADULTS; MULTIPLE DISABILITIES; POSITIVE
PSYCHOLOGY; MENTAL-RETARDATION; SELF-DETERMINATION; TEACHER RATINGS;
STUDENTS; PARENT; EXPERIENCES
AB Although federal law now mandates age-appropriate transition assessment as a key component of high-quality transition planning, little research exists to guide educators on what they might learn when undertaking this process. In this study, the authors examined teacher and parent assessments of the transition-related strengths and needs of 134 youth with severe intellectual and developmental disabilities who were eligible for the state's alternate assessment. The perspectives of teachers and parents regarding the transition-related strengths and needs of particular students often diverged in key ways. Students with severe disabilities were perceived as having a range of transition-related strengths across the nine transition domains. Although a number of transition-related needs were identified by teachers, the transition profiles of individual students within this sample were quite heterogeneous. The authors offer recommendations for strengthening the transition assessment and planning process by incorporating multiple perspectives, and present important directions for future research on transition assessment.
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[Trainor, Audrey A.] Univ Wisconsin, Madison, WI 53706 USA.
RP Carter, EW (reprint author), Vanderbilt Univ, Peabody Coll, Dept Special Educ, PMB 228,230 Appleton Pl, Nashville, TN 37203 USA.
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Will M., 1984, OSERS PROGRAMMING TR
NR 48
TC 3
Z9 3
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 FEB
PY 2014
VL 47
IS 4
BP 245
EP 255
DI 10.1177/0022466912456241
PG 11
WC Education, Special
SC Education & Educational Research
GA 276GB
UT WOS:000328735500004
ER
PT J
AU Griffin, MM
Taylor, JL
Urbano, RC
Hodapp, RM
AF Griffin, Megan M.
Taylor, Julie Lounds
Urbano, Richard C.
Hodapp, Robert M.
TI Involvement in Transition Planning Meetings Among High School Students
With Autism Spectrum Disorders
SO JOURNAL OF SPECIAL EDUCATION
LA English
DT Article
DE autism spectrum disorders; transition planning; student involvement;
parent involvement
ID YOUNG-ADULTS; SELF-DETERMINATION; DIRECTED-IEP; PARTICIPATION;
DISABILITIES; YOUTH; EMPLOYMENT; EDUCATION; MIDDLE
AB Although students with autism spectrum disorders (ASD) are least likely to attend and participate in transition planning meetings, little is known about factors related to their involvement. Using a national data set, we conducted regressions to identify predictors of the involvement of 320 youth with ASD. Attendance positively related to higher expressive language skills, greater time spent in general education, and more frequent discussions about postschool plans at home. Attendance negatively related to greater parent involvement at school. Active participation was shown by students who had higher self-advocacy skills, spent more time in general education, and more often discussed postschool plans at home. Active participants were also more likely to be younger and Caucasian. Implications for research and practice are discussed.
C1 [Griffin, Megan M.] Univ New Mexico, Albuquerque, NM 87131 USA.
[Taylor, Julie Lounds; Urbano, Richard C.; Hodapp, Robert M.] Vanderbilt Kennedy Ctr, Nashville, TN USA.
RP Griffin, MM (reprint author), Univ New Mexico, Coll Educ, Dept Educ Specialties, MSC05 3040, Albuquerque, NM 87131 USA.
EM griffinm@unm.edu
CR Arndt SA, 2006, REM SPEC EDUC, V27, P194, DOI 10.1177/07419325060270040101
Cameto R, 2004, TRANSITION PLANNING
Carter EW, 2012, J DISABIL POLICY STU, V23, P50, DOI 10.1177/1044207311414680
Cohen J., 2003, APPL MULTIPLE REGRES
Field S, 1999, FOCUS AUTISM OTHER D, V14, P36, DOI DOI 10.1177/108835769901400105
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Harrell F.E, 2001, REGRESSION MODELING
Held M. F., 2004, FOCUS AUTISM OTHER D, V19, P177, DOI 10.1177/10883576040190030501
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Menard S., 2002, APPL LOGISTIC REGRES
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Wagner M, 2012, J DISABIL POLICY STU, V23, P140, DOI 10.1177/1044207311425384
NR 25
TC 1
Z9 1
PU SAGE PUBLICATIONS INC
PI THOUSAND OAKS
PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA
SN 0022-4669
EI 1538-4764
J9 J SPEC EDUC
JI J. Spec. Educ.
PD FEB
PY 2014
VL 47
IS 4
BP 256
EP 264
DI 10.1177/0022466913475668
PG 9
WC Education, Special
SC Education & Educational Research
GA 276GB
UT WOS:000328735500005
ER
PT J
AU Damiano, CR
Aloi, J
Dunlap, K
Burrus, CJ
Mosner, MG
Kozink, RV
McLaurin, RE
Mullette-Gillman, OA
Carter, RM
Huettel, SA
McClernon, FJ
Ashley-Koch, A
Dichter, GS
AF Damiano, Cara R.
Aloi, Joseph
Dunlap, Kaitlyn
Burrus, Caley J.
Mosner, Maya G.
Kozink, Rachel V.
McLaurin, Ralph Edward
Mullette-Gillman, O'Dhaniel A.
Carter, Ronald McKell
Huettel, Scott A.
McClernon, Francis Joseph
Ashley-Koch, Allison
Dichter, Gabriel S.
TI Association between the oxytocin receptor (OXTR) gene and mesolimbic
responses to rewards
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder (ASD); Oxytocin; Oxytocin receptor; Genetics;
Neuroimaging; Reward; Motivation; Mesolimbic; Functional magnetic
resonance imaging (fMRI); Single nucleotide polymorphism (SNP)
ID AUTISM SPECTRUM DISORDERS; FEMALE PRAIRIE VOLES; VENTRAL TEGMENTAL AREA;
NUCLEUS-ACCUMBENS; MATERNAL-BEHAVIOR; AFFILIATIVE BEHAVIOR;
INDIVIDUAL-DIFFERENCES; FUNCTIONING AUTISM; SOCIAL RECOGNITION;
POLYGAMOUS VOLES
AB Background: There has been significant progress in identifying genes that confer risk for autism spectrum disorders (ASDs). However, the heterogeneity of symptom presentation in ASDs impedes the detection of ASD risk genes. One approach to understanding genetic influences on ASD symptom expression is to evaluate relations between variants of ASD candidate genes and neural endophenotypes in unaffected samples. Allelic variations in the oxytocin receptor (OXTR) gene confer small but significant risk for ASDs for which the underlying mechanisms may involve associations between variability in oxytocin signaling pathways and neural response to rewards. The purpose of this preliminary study was to investigate the influence of allelic variability in the OXTR gene on neural responses to monetary rewards in healthy adults using functional magnetic resonance imaging (fMRI).
Methods: The moderating effects of three single nucleotide polymorphisms (SNPs) (rs1042778, rs2268493 and rs237887) of the OXTR gene on mesolimbic responses to rewards were evaluated using a monetary incentive delay fMRI task.
Results: T homozygotes of the rs2268493 SNP demonstrated relatively decreased activation in mesolimbic reward circuitry (including the nucleus accumbens, amygdala, insula, thalamus and prefrontal cortical regions) during the anticipation of rewards but not during the outcome phase of the task. Allelic variation of the rs1042778 and rs237887 SNPs did not moderate mesolimbic activation during either reward anticipation or outcomes.
Conclusions: This preliminary study suggests that the OXTR SNP rs2268493, which has been previously identified as an ASD risk gene, moderates mesolimbic responses during reward anticipation. Given previous findings of decreased mesolimbic activation during reward anticipation in ASD, the present results suggest that OXTR may confer ASD risk via influences on the neural systems that support reward anticipation.
C1 [Damiano, Cara R.; Aloi, Joseph; Mosner, Maya G.; Dichter, Gabriel S.] Univ N Carolina, Dept Psychol, UNC CH, Chapel Hill, NC 27599 USA.
[Dunlap, Kaitlyn; Burrus, Caley J.; Dichter, Gabriel S.] Duke Univ, Brain Imaging & Anal Ctr, Durham, NC USA.
[Kozink, Rachel V.; Carter, Ronald McKell; Huettel, Scott A.; McClernon, Francis Joseph] Duke Univ, Dept Psychiat & Behav Sci, Durham, NC USA.
[McLaurin, Ralph Edward; McClernon, Francis Joseph] Duke Univ, Dept Neurobiol, Durham, NC USA.
[Mullette-Gillman, O'Dhaniel A.] Duke NUS Grad Med Sch, Neurosci & Behav Disorders Program, Singapore, Singapore.
[Mullette-Gillman, O'Dhaniel A.] Natl Univ Singapore, Dept Psychol, Singapore 117548, Singapore.
[Carter, Ronald McKell; Huettel, Scott A.] Duke Univ, Ctr Cognit Neurosci, Durham, NC USA.
[Huettel, Scott A.] Duke Univ, Dept Psychol, Durham, NC 27706 USA.
[Huettel, Scott A.] Duke Univ, Dept Neurosci, Durham, NC 27706 USA.
[Ashley-Koch, Allison] Duke Univ, Dept Med, Ctr Human Genet, Durham, NC USA.
[Dichter, Gabriel S.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA.
[Dichter, Gabriel S.] Univ N Carolina, Carolina Inst Dev Disabil, Chapel Hill, NC USA.
RP Damiano, CR (reprint author), Univ N Carolina, Dept Psychol, UNC CH, CB 3270,Davie Hall, Chapel Hill, NC 27599 USA.
EM cdamiano@email.unc.edu
FU NUS [R-581-000-123-133, R-581-000-133-112]; Weatherstone Predoctoral
Fellowship; Earl and Barbara Baughman Dissertation Research Award;
UNC-CH Graduate School Dissertation Completion Fellowship; [U54
HD079124]; [K23 MH081285]; [RC1 MH88680]
FX This research was supported by U54 HD079124 (GSD), K23 MH081285 (GSD),
RC1 MH88680 (SAH), NUS Grants R-581-000-123-133 and R-581-000-133-112
(OAM), the Weatherstone Predoctoral Fellowship (CRD), the Earl and
Barbara Baughman Dissertation Research Award (CRD), and a UNC-CH
Graduate School Dissertation Completion Fellowship (CRD). We would like
to thank MRI technologists Susan Music, Natalie Goutkin, and Luke Poole
for assistance with data acquisition, and BIAC Director Dr Allen Song
for assistance with various aspects of this project.
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NR 104
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 JAN 31
PY 2014
VL 5
AR 7
DI 10.1186/2040-2392-5-7
PG 12
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4UU
UT WOS:000334710500001
PM 24485285
ER
PT J
AU Vara, AS
Pang, EW
Doyle-Thomas, KAR
Vidal, J
Taylor, MJ
Anagnostou, E
AF Vara, Anji S.
Pang, Elizabeth W.
Doyle-Thomas, Krissy A. R.
Vidal, Julie
Taylor, Margot J.
Anagnostou, Evdokia
TI Is inhibitory control a 'no-go' in adolescents with autism spectrum
disorder?
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder; Adolescence; Brain imaging; Inhibition
ID INFERIOR PREFRONTAL CORTEX; EVENT-RELATED FMRI; DEFICIT HYPERACTIVITY
DISORDER; ROSTRAL ANTERIOR CINGULATE; RESPONSE-INHIBITION; COGNITIVE
CONTROL; EXECUTIVE FUNCTION; ASPERGER-SYNDROME; FUNCTIONAL MRI;
FRONTAL-CORTEX
AB Background: Autism spectrum disorder (ASD) refers to a range of neurodevelopmental conditions characterized by social communication deficits, repetitive behaviours, and restrictive interests. Impaired inhibition has been suggested to exacerbate the core symptoms of ASD. This is particularly critical during adolescence when social skills are maturing to adult levels. Using magnetoencephalography (MEG), we identified the location and timing pattern of neural activity associated with inhibition in adolescents with autism, compared to typically developing adolescents.
Methods: The MEG data from 15 adolescents with ASD and 15 age-matched controls (13 to 17 years) were collected during a go/no-go task with inverse ratios of go/no-go trials in two conditions: an inhibition condition (1:2) and a baseline condition (2:1). No-go trials from the two conditions were analyzed using beamformer source localizations from 200 ms to 400 ms post-stimulus onset. Significant activations were determined using permutation testing.
Results: Adolescents with ASD recruited first the right middle frontal gyrus (200 to 250 ms) followed by the left postcentral gyrus (250 to 300 ms) and finally the left middle frontal and right medial frontal gyri (300 to 400 ms). Typically developing adolescents recruited first the left middle frontal gyrus (200 to 250 ms), followed by the left superior and inferior frontal gyri (250 to 300 ms), then the right middle temporal gyrus (300 to 350 ms), and finally the superior and precentral gyri and right inferior lobule (300 to 400 ms).
Conclusions: Adolescents with ASD showed recruitment limited largely to the frontal cortex unlike typically developing adolescents who recruited parietal and temporal regions as well. These findings support the presence of an atypical, restricted inhibitory network in adolescents with ASD compared to controls.
C1 [Vara, Anji S.; Pang, Elizabeth W.; Taylor, Margot J.; Anagnostou, Evdokia] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada.
[Vara, Anji S.; Doyle-Thomas, Krissy A. R.; Anagnostou, Evdokia] Univ Toronto, Holland Bloorview Kids Rehabil Hosp, Toronto, ON M4G 1R8, Canada.
[Vara, Anji S.; Pang, Elizabeth W.; Taylor, Margot J.; Anagnostou, Evdokia] Univ Toronto, Toronto, ON M5S 2J7, Canada.
[Vidal, Julie] Paris Descartes Univ, F-3521 Paris, France.
[Vidal, Julie] CNRS, UMR 3521, Paris, France.
[Anagnostou, Evdokia] Univ Toronto, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada.
RP Anagnostou, E (reprint author), Univ Toronto, Hosp Sick Children, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM eanagnostou@hollandbloorview.ca
FU U of T Open Fellowship Award; Ontario Brain Institute
FX The authors would like to thank Marc Lalancette, Hamzah Qureshi, and
Travis Mills for their assistance with the analyses. The authors would
also like to acknowledge Dr. Jessica Brian and the ARC team at Holland
Bloorview for their efforts in characterising our sample. ASV was funded
through the U of T Open Fellowship Award and the work involved in this
study was partially funded through the Ontario Brain Institute. Finally,
the authors would like to recognize the families of the participants for
their willingness to contribute a great deal of time towards research.
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NR 66
TC 2
Z9 3
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 JAN 31
PY 2014
VL 5
AR 6
DI 10.1186/2040-2392-5-6
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KP
UT WOS:000334964900001
PM 24485230
ER
PT J
AU Konstantoudaki, X
Papoutsi, A
Chalkiadaki, K
Poirazi, P
Sidiropoulou, K
AF Konstantoudaki, Xanthippi
Papoutsi, Athanasia
Chalkiadaki, Kleanthi
Poirazi, Panayiota
Sidiropoulou, Kyriaki
TI Modulatory effects of inhibition on persistent activity in a cortical
microcircuit model
SO FRONTIERS IN NEURAL CIRCUITS
LA English
DT Article
DE prefrontal cortex; NMDA; synchronicity; fast-spiking interneurons;
connectivity; parvalbumin interneurons
ID DORSOLATERAL PREFRONTAL CORTEX; FAST-SPIKING INTERNEURONS; DUAL
INTRACELLULAR-RECORDINGS; GLUTAMIC-ACID DECARBOXYLASE; CAT
VISUAL-CORTEX; WORKING-MEMORY; PYRAMIDAL NEURONS; SYNAPTIC MECHANISMS;
NMDA RECEPTORS; RAT NEOCORTEX
AB Neocortical network activity is generated through a dynamic balance between excitation, provided by pyramidal neurons, and inhibition, provided by interneurons. Imbalance of the excitation/inhibition ratio has been identified in several neuropsychiatric diseases, such as schizophrenia, autism and epilepsy, which also present with other cognitive deficits and symptoms associated with prefrontal cortical (PFC) dysfunction. We undertook a computational approach to study how changes in the excitation/inhibition balance in a PFC microcircuit model affect the properties of persistent activity, considered the cellular correlate of working memory function in PFC. To this end, we constructed a PFC microcircuit, consisting of pyramidal neuron models and all three different interneuron types: fast-spiking (FS), regular-spiking (RS), and irregular-spiking (IS) interneurons. Persistent activity was induced in the microcircuit model with a stimulus to the proximal apical dendrites of the pyramidal neuron models, and its properties were analyzed, such as the induction profile, the interspike intervals (IS1s) and neuronal synchronicity. Our simulations showed that (a) the induction but not the firing frequency or neuronal synchronicity is modulated by changes in the NMDA-to-AMPA ratio on FS interneuron model, (b) removing or decreasing the FS model input to the pyramidal neuron models greatly limited the biophysical modulation of persistent activity induction, decreased the ISIs and neuronal synchronicity during persistent activity, (c) the induction and firing properties could not be altered by the addition of other inhibitory inputs to the soma (from RS or IS models), and (d) the synchronicity change could be reversed by the addition of other inhibitory inputs to the soma, but beyond the levels of the control network. Thus, generic somatic inhibition acts as a pacemaker of persistent activity and FS specific inhibition modulates the output of the pacemaker.
C1 [Konstantoudaki, Xanthippi; Papoutsi, Athanasia; Chalkiadaki, Kleanthi; Sidiropoulou, Kyriaki] Univ Crete, Dept Biol, Iraklion, Greece.
[Konstantoudaki, Xanthippi; Papoutsi, Athanasia; Chalkiadaki, Kleanthi; Poirazi, Panayiota; Sidiropoulou, Kyriaki] Fdn Res & Technol Hellas, Inst Mol Biol & Biotechnol, GR-71110 Iraklion, Greece.
RP Poirazi, P (reprint author), Fdn Res & Technol Hellas, Inst Mol Biol & Biotechnol, Computat Biol Lab, 100 N Plastira Str, GR-71110 Iraklion, Greece.
EM poirazi@imbb.forth.gr
FU Marie-Curie IOF grant [FEAR MEMORY TRACE-253388]; NARSAD young
investigator award; ERC Starting Grant [ERC-2012-StG-311435]
FX This work was supported by a Marie-Curie IOF grant (FEAR MEMORY
TRACE-253388) and a NARSAD young investigator award to Kyriaki
Sidiropoulou and an ERC Starting Grant to Panayiota Poirazi ('dEMORY',
ERC-2012-StG-311435).
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NR 87
TC 1
Z9 1
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5110
J9 FRONT NEURAL CIRCUIT
JI Front. Neural Circuits
PD JAN 31
PY 2014
VL 8
AR 7
DI 10.3389/fncir.2014.00007
PG 15
WC Neurosciences
SC Neurosciences & Neurology
GA AC7LQ
UT WOS:000332710900001
PM 24550786
ER
PT J
AU Bejerot, S
Eriksson, JM
AF Bejerot, Susanne
Eriksson, Jonna M.
TI Sexuality and Gender Role in Autism Spectrum Disorder: A Case Control
Study
SO PLOS ONE
LA English
DT Article
ID IDENTITY DISORDER; ASPERGER-SYNDROME; FUNCTIONING AUTISM; FETAL
TESTOSTERONE; SEX-DIFFERENCES; HUMAN BRAIN; CHILDREN; BEHAVIOR;
CHILDHOOD; TRAITS
AB The 'extreme male brain theory of autism' describes an extreme male pattern of cognitive traits defined as strong systemising abilities paired with empathising weaknesses in autism spectrum disorder. However, beyond these cognitive traits, clinical observations have suggested an ambiguous gender-typed pattern regarding several sexually dimorphic traits. The aim of the present study was to investigate if patterns of non-cognitive sexually dimorphic traits differed between the autism spectrum disorder and control groups. Fifty adults with autism spectrum disorder and intelligence within the normal range, and 53 neurotypical controls responded to questions on gender role, self-perceived gender typicality and gender identity, as well as sexuality. Measures used were a Swedish modification of the Bem Sex Role Inventory and questions on sexuality and gender designed for the purpose of this study. Our results showed that one common gender role emerged in the autism spectrum disorder group. Masculinity (e. g. assertiveness, leadership and competitiveness) was weaker in the autism spectrum disorder group than in the controls, across men and women. Self-perceived gender typicality did not differ between the groups but tomboyism and bisexuality were overrepresented amongst women with autism spectrum disorder. Lower libido was reported amongst both male and female participants with autism spectrum disorder compared with controls. We conclude that the extreme male patterns of cognitive functions in the autistic brain do not seem to extend to gender role and sexuality. A gender-atypical pattern for these types of characteristics is suggested in autism spectrum disorder.
C1 [Bejerot, Susanne; Eriksson, Jonna M.] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
RP Bejerot, S (reprint author), Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden.
EM susanne.bejerot@gmail.com
FU Swedish Medical Research Council [523-2011-3646]; St. Goran Foundation;
Swedish Society of Medicine; Thuring Foundation
FX This study was founded through the Swedish Medical Research Council
(Grant No 523-2011-3646) the St. Goran Foundation, the Swedish Society
of Medicine and the Thuring 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 49
TC 4
Z9 4
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JAN 31
PY 2014
VL 9
IS 1
AR e87961
DI 10.1371/journal.pone.0087961
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 302RF
UT WOS:000330621900198
PM 24498228
ER
PT J
AU Martin, HGS
Manzoni, OJ
AF Martin, Henry G. S.
Manzoni, Olivier J.
TI Late onset deficits in synaptic plasticity in the valproic acid rat
model of autism
SO FRONTIERS IN CELLULAR NEUROSCIENCE
LA English
DT Article
DE valproic acid; prefrontal cortex; synaptic plasticity; autism; age; NMDA
receptor
ID FRAGILE-X-SYNDROME; MEDIAL PREFRONTAL CORTEX; LONG-TERM POTENTIATION;
IN-UTERO EXPOSURE; SPECTRUM DISORDERS; MOUSE MODEL;
PSYCHIATRIC-DISORDERS; PRENATAL EXPOSURE; ANIMAL-MODEL; MICE
AB Valproic acid (VPA) is a frequently used drug in the treatment of epilepsy, bipolar disorders and migraines; however it is also a potent teratogen. Prenatal exposure increases the risk of childhood malformations and can result in cognitive deficits. In rodents in utero exposure to VPA also causes neurodevelopmental abnormalities and is an important model of autism. In early postnatal life VPA exposed rat pups show changes in medial prefrontal cortex (mPFC) physiology and synaptic connectivity. Specifically, principal neurons show decreased excitability but increased local connectivity, coupled with an increase in long-term potentiation (LIP) due to an up-regulation of NMDA receptor (NMDAR) expression. However recent evidence suggests compensatory homeostatic mechanisms lead to normalization of synaptic NMDARs during later postnatal development. Here we have extended study of mPFC synaptic physiology into adulthood to better understand the longitudinal consequences of early developmental abnormalities in VPA exposed rats. Surprisingly in contrast to early postnatal life and adolescence, we find that adult VPA exposed rats show reduced synaptic function. Both NMDAR mediated currents and LIP are lower in adult VPA rats, although spontaneous activity and endocannabinoid dependent long-term depression are normal. We conclude that rather than correcting, synaptic abnormalities persist into adulthood in VPA exposed rats, although a quite different synaptic phenotype is present. This switch from hyper to hypo function in mPFC may be linked to some of the neurodevelopmental defects found in prenatal VPA exposure and autism spectrum disorders in general.
C1 [Martin, Henry G. S.; Manzoni, Olivier J.] INSERM, Pathophysiol Synapt Plast Grp U901, F-13273 Marseille 09, France.
[Martin, Henry G. S.; Manzoni, Olivier J.] Inst Neurobiol Mediterranee INMED, F-13273 Marseille 09, France.
[Martin, Henry G. S.; Manzoni, Olivier J.] Univ Aix Marseille, Marseille, France.
RP Manzoni, OJ (reprint author), INSERM, Parc Sci Luminy,163 Ave Luminy, F-13273 Marseille 09, France.
EM olivier.manzoni@inserm.fr
FU INSERM; ANR "RescueMemo''
FX This work was supported by INSERM and ANR "RescueMemo''. Ve thank
members from the Manzoni and Chavis laboratories for discussions, the
National Institute of Mental Health's Chemical Synthesis and Drug Supply
Program (Rockville, MD, USA) for providing DNQX, and Dr. R. Nardou and
Dr. D. Ferrari from Neurochlore (www.neurochlore.fr) for providing the
VPA-treated rats.
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NR 41
TC 8
Z9 8
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 JAN 31
PY 2014
VL 8
AR 23
DI 10.3389/fncel.2014.00023
PG 8
WC Neurosciences
SC Neurosciences & Neurology
GA AA4GP
UT WOS:000331054400001
PM 24550781
ER
PT J
AU He, W
Brock, J
Johnson, BW
AF He, Wei
Brock, Jon
Johnson, Blake W.
TI Face-sensitive brain responses measured from a four-year-old child with
a custom-sized child MEG system
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Cognitive development; Face perception; Magnetoencephalography; N170;
M170
ID LANGUAGE PERFORMANCE; PERCEPTION
AB Background: Previous magnetoencephalography (MEG) studies have failed to find a facesensitive, brain response-M170 in children. If this is the case, this suggests that the developmental trajectory of the M170 is different from that of its electrical equivalent, the N170. We investigated the alternative possibility that the child M170 may not be detectable in conventional adult-sized MEG systems.
New method: Brain responses to pictures of faces and well controlled stimuli were measured from the same four-year-old child with a custom child MEG system and an adult-sized MEG system.
Results: The goodness of fit of the child's head was about the same over the occipital head surface in both systems, but was much worse over all other parts of the head surface in the adult MEG system compared to the child MEG system. The face-sensitive M170 was measured from the child in both ME-G systems, but was larger in amplitude, clearer in morphology, and had a more accurate source localization when measured in the child MEG system.
Comparison with existing method: The custom-sized child MEG system is superior for measuring the face-sensitive M170 brain response in children than the conventional adult MEG system.
Conclusions: The present results show that the face-sensitive M170 brain response can be elicited in a four-year-old child. This provides new evidence for early maturation of face processing brain mechanisms in humans, and offers new opportunities for the study of neurodevelopmental disorders that show atypical face processing capabilities, such as autism spectrum disorder. (C) 2013 Elsevier B.V. All rights reserved.
C1 [He, Wei; Brock, Jon; Johnson, Blake W.] Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, N Ryde, NSW 2109, Australia.
RP He, W (reprint author), Macquarie Univ, ARC Ctr Excellence Cognit & Its Disorders, N Ryde, NSW 2109, Australia.
EM wei.he@mq.edu.au
FU Australian Research Council Linkage Infrastructure Equipment and
Facilities Grant [LEO668421]; Australian Research Council Linkage
Project Grant [LP0669471]; Australian Research Council Centre of
Excellence for Cognition and its Disorders [CE110001021]
FX This work was supported by Australian Research Council Linkage
Infrastructure Equipment and Facilities Grant LEO668421, Australian
Research Council Linkage Project Grant LP0669471, and the Australian
Research Council Centre of Excellence for Cognition and its Disorders
(CE110001021), http://www.ccd.edu.au. The authors thank Romina Polermo
and Douglas Cheyne for helpful comments during the design of the
experiment and Bruno Russion for providing the picture stimuli. The
authors gratefully acknowledge the collaboration of Kanazawa Institute
of Technology in establishing the KIT-Macquarie MEG laboratory.
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NR 17
TC 3
Z9 3
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0165-0270
EI 1872-678X
J9 J NEUROSCI METH
JI J. Neurosci. Methods
PD JAN 30
PY 2014
VL 222
BP 213
EP 217
DI 10.1016/j.jneumeth.2013.11.020
PG 5
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA AB3DR
UT WOS:000331672000026
PM 24295557
ER
PT J
AU Bodizs, R
Gombos, F
Szocs, K
Rethelyi, JM
Gervan, P
Kovacs, I
AF Bodizs, Robert
Gombos, Ferenc
Szocs, Katalin
Rethelyi, Janos M.
Gervan, Patricia
Kovacs, Ilona
TI SLEEP-EEG IN DIZYGOTIC TWINS DISCORDANT FOR WILLIAMS SYNDROME
SO IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
LA English
DT Article
DE Williams syndrome; 7q11.23 microdeletion; sleep EEG; sleep spindles;
alpha waves; dizygotic twins
ID DEVELOPMENTAL-DISABILITIES; FINGERPRINT; DISORDERS; PHENOTYPE; CHILDREN;
LANGUAGE; BEHAVIOR; AUTISM; REGION; ADULTS
AB Background and purpose - Reports on twin pairs concordant and discordant for Williams syndrome were published before, but no study unravelled sleep physiology in these cases yet. We aim to fill this gap by analyzing sleep records of a twin pair discordant for Williams syndrome extending our focus on presleep wakefulness and sleep spindling.
Methods - We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. Polysomnography of laboratory sleep at this age was analyzed and followed-up after 1.5 years by ambulatory polysomnography. Sleep stages scoring, EEG power spectra and sleep spindle analyses were carried out.
Results - The twin brother showed reduced levels of amplification for all of the probes in the 7q11.23 region indicating a typical deletion spanning at least 1.038 Mb between FKBP6 and CLIP2. The results of the twin sister showed normal copy numbers in the investigated region. Lower sleep times and efficiencies, as well as higher slow wave sleep percents of the twin brother were evident during both recordings. Roughly equal NREM, Stage 2 and REM sleep percents were found. EEG analyses revealed state and derivation-independent decreases in cc power, lack of an a spectral peak in presleep wakefulness, as well as higher NREM sleep a peak frequency in the twin brother. Faster sleep spindles with lower amplitude and shorter duration characterized the records of the twin brother. Spectra show a striking reliability and correspondence between the two situations (laboratory vs. home records).
Conclusion - Alterations in sleep and specific neural oscillations including the alpha/sigma waves are inherent aspects of Williams syndrome.
C1 [Bodizs, Robert] Semmelweis Egyet, Magatartastudomanyi Intezet, Budapest, Hungary.
[Gombos, Ferenc; Gervan, Patricia; Kovacs, Ilona] Pazmany Peter Katolikus Egyet, Altalanos Lelektani Tanszek, Budapest, Hungary.
[Szocs, Katalin; Rethelyi, Janos M.] Semmelweis Egyet, Pszichiatriai & Pszichoterapias Klin, Budapest, Hungary.
RP Bodizs, R (reprint author), Semmelweis Univ, Inst Behav Sci, Nagyvarad Ter 4, H-1089 Budapest, Hungary.
EM bodrob@net.sote.hu
RI Kovacs, Ilona/A-2372-2009; Bodizs, Robert/A-2651-2009
OI Kovacs, Ilona/0000-0002-1772-2697; Bodizs, Robert/0000-0002-7255-0541
FU Hungarian National Science Found [OTKA-NF60806, OTKA-PD 83876]
FX The study was supported by the Hungarian National Science Found
(OTKA-NF60806 to I.K. and OTKA-PD 83876 to JMR). The twins and all other
members of their family kindly and patiently collaborated with us during
the whole course of the study. Authors would like to express their
appreciation and thanks for their patience and understanding during this
process.
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NR 37
TC 1
Z9 1
PU LITERATURA MEDICA
PI BUDAPEST
PA MARGIT KRT 31-33, BUDAPEST, 1024, HUNGARY
SN 0019-1442
J9 IDEGGYOGY SZEMLE
JI Ideggyogy. Szle.
PD JAN 30
PY 2014
VL 67
IS 1-2
BP 59
EP 68
PG 10
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA 302LP
UT WOS:000330606300008
PM 24654449
ER
PT J
AU Ikuta, T
Shafritz, KM
Bregman, J
Peters, BD
Gruner, P
Malhotra, AK
Szeszko, PR
AF Ikuta, Toshikazu
Shafritz, Keith M.
Bregman, Joel
Peters, Bart D.
Gruner, Patricia
Malhotra, Anil K.
Szeszko, Philip R.
TI Abnormal cingulum bundle development in autism: A probabilistic
tractography study
SO PSYCHIATRY RESEARCH-NEUROIMAGING
LA English
DT Article
DE Autism spectrum disorder; Diffusion tensor imaging; White matter;
Development
ID WHITE-MATTER MICROSTRUCTURE; SPECTRUM DISORDER; EXECUTIVE FUNCTION;
FRACTIONAL ANISOTROPY; CHILDREN; BRAIN; CHILDHOOD; ADOLESCENCE
AB There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a) typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with Autism Spectrum Disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in ASD, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
C1 [Ikuta, Toshikazu; Shafritz, Keith M.; Bregman, Joel; Peters, Bart D.; Malhotra, Anil K.; Szeszko, Philip R.] Feinstein Inst Med Res, Ctr Psychiat Neurosci, Manhasset, NY 11030 USA.
[Ikuta, Toshikazu; Peters, Bart D.; Malhotra, Anil K.; Szeszko, Philip R.] Zucker Hillside Hosp, Div Psychiat Res, North Shore LIJ Hlth Syst, Glen Oaks, NY 11004 USA.
[Shafritz, Keith M.] Hofstra Univ, Dept Psychol, Hempstead, NY 11549 USA.
[Bregman, Joel] Ctr Autism, Philadelphia, PA 19131 USA.
[Gruner, Patricia] Yale Univ, Dept Psychiat, Sch Med, New Haven, CT 06511 USA.
[Malhotra, Anil K.; Szeszko, Philip R.] Hofstra North Shore LIJ Sch Med, Dept Psychiat, Hempstead, NY USA.
[Malhotra, Anil K.; Szeszko, Philip R.] Hofstra North Shore LIJ Sch Med, Dept Mol Med, Hempstead, NY USA.
RP Ikuta, T (reprint author), Univ Mississippi, Dept Commun Sci & Disorders, Sch Appl Sci, 352 Rebel Dr, University, MS 38677 USA.
EM tikuta@olemiss.edu
FU NIH [M01RK018535]; Hofstra University
FX We thank Linda Spritzer, Jamie Wagner, Melissa Buchman, and Rachel
Ginsberg for help with subject recruitment, cognitive test
administration, and data analysis; Dr. Peter Kingsley, John Cholewa and
John Ferrannini for technical assistance with MR1 data collection. This
work was supported by NIH grant M01RK018535 and grants from Hofstra
University. All authors report no competing financial interests.
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NR 44
TC 3
Z9 3
PU ELSEVIER IRELAND LTD
PI CLARE
PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000,
IRELAND
SN 0925-4927
EI 1872-7506
J9 PSYCHIAT RES-NEUROIM
JI Psychiatry Res. Neuroimaging
PD JAN 30
PY 2014
VL 221
IS 1
BP 63
EP 68
DI 10.1016/j.pscychresns.2013.08.002
PG 6
WC Clinical Neurology; Neuroimaging; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA 286HV
UT WOS:000329459300010
PM 24231056
ER
PT J
AU Zhang, WM
Langefeld, CD
Grunwald, GK
Fingerlin, TE
AF Zhang, Weiming
Langefeld, Carl D.
Grunwald, Gary K.
Fingerlin, Tasha E.
TI Testing gene-environment interactions in family-based association
studies using trait-based ascertained samples
SO STATISTICS IN MEDICINE
LA English
DT Article
DE gene-environment interaction; QBAT-I; ascertainment; family-based
association study; quantitative trait
ID LINKAGE; DISEQUILIBRIUM; EXPOSURE; AUTISM
AB The study of gene-environment interactions is an increasingly important aspect of genetic epidemiological investigation. Historically, it has been difficult to study gene-environment interactions using a family-based design for quantitative traits or when parent-offspring trios were incomplete. The QBAT-I provides researchers a tool to estimate and test for a gene-environment interaction in families of arbitrary structure that are sampled without regard to the phenotype of interest, but is vulnerable to inflated type I error if families are ascertained on the basis of the phenotype. In this study, we verified the potential for type I error of the QBAT-I when applied to samples ascertained on a trait of interest. The magnitude of the inflation increases as the main genetic effect increases and as the ascertainment becomes more extreme. We propose an ascertainment-corrected score test that allows the use of the QBAT-I to test for gene-environment interactions in ascertained samples. Our results indicate that the score test and an ad hoc method we propose can often restore the nominal type I error rate, and in cases where complete restoration is not possible, dramatically reduce the inflation of the type I error rate in ascertained samples. Copyright (c) 2013 John Wiley & Sons, Ltd.
C1 [Zhang, Weiming; Grunwald, Gary K.] Univ Colorado, Colorado Sch Publ Hlth, Dept Biostat & Informat, Aurora, CO USA.
[Langefeld, Carl D.] Wake Forest Univ Hlth Sci, Dept Biostat Sci, Winston Salem, NC USA.
[Fingerlin, Tasha E.] Univ Colorado, Colorado Sch Publ Hlth, Dept Epidemiol, Aurora, CO USA.
RP Zhang, WM (reprint author), Univ Colorado, Anschutz Med Campus, Aurora, CO USA.
EM weiming.zhang@ucdenver.edu
FU American Diabetes Association (ADA) Junior Faculty Award; IRAS Family
Study (NIH) [HL-60944-02, HL-61210-02, HL-61019-02, HL-60894,
HL-60931-02]; GUARDIAN study [DK-085175-11A1]
FX The authors thank the investigators of the Autism Genetic Resource
Exchange (AGRE) for use of data as an example. TEF was supported by an
American Diabetes Association (ADA) Junior Faculty Award. TEF and CDL
were supported by the IRAS Family Study (NIH Grants HL-60944-02,
HL-61210-02, HL-61019-02, HL-60894, and HL-60931-02) and the GUARDIAN
study (DK-085175-11A1). The authors declare no conflicts of interest and
thank the families who volunteered to participate in the AGRE and the
IRASFS.
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NR 26
TC 0
Z9 0
PU WILEY-BLACKWELL
PI HOBOKEN
PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
SN 0277-6715
EI 1097-0258
J9 STAT MED
JI Stat. Med.
PD JAN 30
PY 2014
VL 33
IS 2
BP 304
EP 318
DI 10.1002/sim.5930
PG 15
WC Mathematical & Computational Biology; Public, Environmental &
Occupational Health; Medical Informatics; Medicine, Research &
Experimental; Statistics & Probability
SC Mathematical & Computational Biology; Public, Environmental &
Occupational Health; Medical Informatics; Research & Experimental
Medicine; Mathematics
GA 271EJ
UT WOS:000328373800009
PM 23922213
ER
PT J
AU Tavano, A
Pesarin, A
Murino, V
Cristani, M
AF Tavano, Alessandro
Pesarin, Anna
Murino, Vittorio
Cristani, Marco
TI Automatic Conversational Scene Analysis in Children with Asperger
Syndrome/High-Functioning Autism and Typically Developing Peers
SO PLOS ONE
LA English
DT Article
ID FEATURE-SELECTION; TURN-TAKING; SPEECH; RESONANCE; DISORDER; MIND;
DIALOGUE; BELIEFS; INFANTS; MODELS
AB Individuals with Asperger syndrome/High Functioning Autism fail to spontaneously attribute mental states to the self and others, a life-long phenotypic characteristic known as mindblindness. We hypothesized that mindblindness would affect the dynamics of conversational interaction. Using generative models, in particular Gaussian mixture models and observed influence models, conversations were coded as interacting Markov processes, operating on novel speech/silence patterns, termed Steady Conversational Periods (SCPs). SCPs assume that whenever an agent's process changes state (e. g., from silence to speech), it causes a general transition of the entire conversational process, forcing inter-actant synchronization. SCPs fed into observed influence models, which captured the conversational dynamics of children and adolescents with Asperger syndrome/High Functioning Autism, and age-matched typically developing participants. Analyzing the parameters of the models by means of discriminative classifiers, the dialogs of patients were successfully distinguished from those of control participants. We conclude that meaning-free speech/silence sequences, reflecting inter-actant synchronization, at least partially encode typical and atypical conversational dynamics. This suggests a direct influence of theory of mind abilities onto basic speech initiative behavior.
C1 [Tavano, Alessandro] Univ Leipzig, Inst Psychol, D-04109 Leipzig, Germany.
[Tavano, Alessandro] Sci Inst E Medea, San Vito Al Tagliamento, Pordenone, Italy.
[Pesarin, Anna; Cristani, Marco] Univ Verona, Dept Comp Sci, I-37100 Verona, Italy.
[Murino, Vittorio; Cristani, Marco] Italian Inst Technol, Genoa, Italy.
RP Cristani, M (reprint author), Univ Verona, Dept Comp Sci, I-37100 Verona, Italy.
EM marco.cristani@univr.it
FU Italian Ministry of Health, "E. Medea" Research Institute [3:06];
University of Leipzig by a DFG (German Research Foundation)
FX The study was funded by the Italian Ministry of Health
(www.salute.gov.it) as part of a two-year project on
"Neurorehabilitation of prosodic and pragmatic skills in individuals
with High-functioning Autism, Specific Language Impairment and Williams
syndrome", Principal Investigator Alessandro Tavano, RC-2007/8, 3:06,
"E. Medea" Research Institute. Alessandro Tavano was also supported at
the University of Leipzig by a DFG (German Research Foundation)
Reinhart-Koselleck Project grant, awarded to Professor E. Schroger.
Psychologist Elisa Cravello was employed within the project for data
analysis purposes and participated to the present study acting as the
adult conversational partner. 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 JAN 29
PY 2014
VL 9
IS 1
AR e85819
DI 10.1371/journal.pone.0085819
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 301ZC
UT WOS:000330570000018
PM 24489674
ER
PT J
AU Chollet, MB
Aldridge, K
Pangborn, N
Weinberg, SM
DeLeon, VB
AF Chollet, Madeleine B.
Aldridge, Kristina
Pangborn, Nicole
Weinberg, Seth M.
DeLeon, Valerie B.
TI Landmarking the Brain for Geometric Morphometric Analysis: An Error
Study
SO PLOS ONE
LA English
DT Article
ID CORTICAL SURFACE; FOLDING PATTERNS; CEREBRAL-CORTEX; SCHIZOPHRENIA;
SHAPE; MRI; CRANIOSYNOSTOSIS; AUTISM; SIZE
AB Neuroanatomic phenotypes are often assessed using volumetric analysis. Although powerful and versatile, this approach is limited in that it is unable to quantify changes in shape, to describe how regions are interrelated, or to determine whether changes in size are global or local. Statistical shape analysis using coordinate data from biologically relevant landmarks is the preferred method for testing these aspects of phenotype. To date, approximately fifty landmarks have been used to study brain shape. Of the studies that have used landmark-based statistical shape analysis of the brain, most have not published protocols for landmark identification or the results of reliability studies on these landmarks. The primary aims of this study were two-fold: (1) to collaboratively develop detailed data collection protocols for a set of brain landmarks, and (2) to complete an intra-and inter-observer validation study of the set of landmarks. Detailed protocols were developed for 29 cortical and subcortical landmarks using a sample of 10 boys aged 12 years old. Average intra-observer error for the final set of landmarks was 1.9 mm with a range of 0.72 mm-5.6 mm. Average inter-observer error was 1.1 mm with a range of 0.40 mm-3.4 mm. This study successfully establishes landmark protocols with a minimal level of error that can be used by other researchers in the assessment of neuroanatomic phenotypes.
C1 [Chollet, Madeleine B.; Pangborn, Nicole; DeLeon, Valerie B.] Johns Hopkins Univ, Sch Med, Ctr Funct Anat & Evolut, Baltimore, MD 21218 USA.
[Aldridge, Kristina] Univ Missouri, Sch Med, Dept Pathol & Anat Sci, Columbia, MO USA.
[Weinberg, Seth M.] Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Pittsburgh, PA USA.
RP Chollet, MB (reprint author), Johns Hopkins Univ, Sch Med, Ctr Funct Anat & Evolut, Baltimore, MD 21218 USA.
EM mchollet@wustl.edu
FU National Institutes of Dental and Craniofacial Research [F31
DE021302-01, 5 R01 DE014399-05]; Johns Hopkins University Libraries
FX This study was supported by grants F31 DE021302-01 and 5 R01 DE014399-05
from the National Institutes of Dental and Craniofacial Research.
Publication of this article was funded in part by the Open Access
Promotion Fund of the Johns Hopkins University Libraries. 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 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 JAN 28
PY 2014
VL 9
IS 1
AR e86005
DI 10.1371/journal.pone.0086005
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 301CJ
UT WOS:000330510000030
PM 24489689
ER
PT J
AU Matsunami, N
Hensel, CH
Baird, L
Stevens, J
Otterud, B
Leppert, T
Varvil, T
Hadley, D
Glessner, JT
Pellegrino, R
Kim, C
Thomas, K
Wang, FX
Otieno, FG
Ho, K
Christensen, GB
Li, DY
Prekeris, R
Lambert, CG
Hakonarson, H
Leppert, MF
AF Matsunami, Nori
Hensel, Charles H.
Baird, Lisa
Stevens, Jeff
Otterud, Brith
Leppert, Tami
Varvil, Tena
Hadley, Dexter
Glessner, Joseph T.
Pellegrino, Renata
Kim, Cecilia
Thomas, Kelly
Wang, Fengxiang
Otieno, Frederick G.
Ho, Karen
Christensen, Gerald B.
Li, Dongying
Prekeris, Rytis
Lambert, Christophe G.
Hakonarson, Hakon
Leppert, Mark F.
TI Identification of rare DNA sequence variants in high-risk autism
families and their prevalence in a large case/control population
SO MOLECULAR AUTISM
LA English
DT Article
DE Familial autism; Haplotype sharing; DNA sequence variants; Case/control
study
ID DE-NOVO MUTATIONS; COPY NUMBER VARIATION; GENOME-WIDE LINKAGE; SPECTRUM
DISORDERS; EXTENDED PEDIGREE; NEUROPSYCHIATRIC DISORDERS;
RAB11-INTERACTING PROTEINS; CHROMOSOMAL REARRANGEMENTS; MOLECULAR
CHARACTERIZATION; RECIPROCAL TRANSLOCATION
AB Background: Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi generation families to identify ASD risk genes had not been undertaken.
Methods: We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population.
Results: We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci.
Conclusions: Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The observation of 11 of these variants in unrelated ASD cases further supports their role as ASD risk variants.
C1 [Matsunami, Nori; Baird, Lisa; Stevens, Jeff; Otterud, Brith; Leppert, Tami; Varvil, Tena; Leppert, Mark F.] Univ Utah, Dept Human Genet, Salt Lake City, UT USA.
[Hensel, Charles H.; Ho, Karen] Lineagen Inc, Salt Lake City, UT 84109 USA.
[Hadley, Dexter; Glessner, Joseph T.; Pellegrino, Renata; Kim, Cecilia; Thomas, Kelly; Wang, Fengxiang; Otieno, Frederick G.; Hakonarson, Hakon] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA.
[Christensen, Gerald B.; Lambert, Christophe G.] Golden Helix Inc, Bozeman, MT USA.
[Li, Dongying; Prekeris, Rytis] Univ Colorado, Sch Med, Dept Cell & Dev Biol, Aurora, CO USA.
[Hakonarson, Hakon] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA.
RP Hensel, CH (reprint author), Lineagen Inc, Salt Lake City, UT 84109 USA.
EM chensel@lineagen.com
FU National Institute of Mental Health [R01 MH 06359]; National Institute
of Child Health and Human Development [U19HD035476]; GCRC from the
National Center for Research Resources [M01 RR025764]
FX All family subjects were ascertained and DNA collected with support from
R01 MH 06359 from the National Institute of Mental Health and
U19HD035476 from the National Institute of Child Health and Human
Development. Utah DNA samples were processed with support from GCRC M01
RR025764 from the National Center for Research Resources. The authors
gratefully acknowledge the resources provided by the Autism Genetic
Resource Exchange (AGRE) Consortium and the participating AGRE families.
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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 2040-2392
J9 MOL AUTISM
JI Mol. Autism
PD JAN 27
PY 2014
VL 5
AR 5
DI 10.1186/2040-2392-5-5
PG 18
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4UM
UT WOS:000334709700001
PM 24467814
ER
PT J
AU Steeb, H
Ramsey, JM
Guest, PC
Stocki, P
Cooper, JD
Rahmoune, H
Ingudomnukul, E
Auyeung, B
Ruta, L
Baron-Cohen, S
Bahn, S
AF Steeb, Hannah
Ramsey, Jordan M.
Guest, Paul C.
Stocki, Pawel
Cooper, Jason D.
Rahmoune, Hassan
Ingudomnukul, Erin
Auyeung, Bonnie
Ruta, Liliana
Baron-Cohen, Simon
Bahn, Sabine
TI Serum proteomic analysis identifies sex-specific differences in lipid
metabolism and inflammation profiles in adults diagnosed with Asperger
syndrome
SO MOLECULAR AUTISM
LA English
DT Article
DE Asperger Syndrome; Sex; Proteomics; Biomarkers; Lipid transport; Growth;
Inflammation
ID AUTISM SPECTRUM DISORDERS; POLYCYSTIC-OVARY-SYNDROME; DATA-INDEPENDENT
ANALYSIS; CELL-GROWTH; CHILDREN; PROTEIN; TESTOSTERONE; CHOLESTEROL;
EXPRESSION; WOMEN
AB Background: The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum.
Methods: Here, we analysed sera from adults diagnosed with AS (males = 14, females = 16) and controls (males = 13, females = 16) not on medication at the time of sample collection, using a combination of multiplex immunoassay and shotgun label-free liquid chromatography mass spectrometry (LC-MSE). The main objective was to identify sex-specific serum protein changes associated with AS.
Results: Multiplex immunoassay profiling led to identification of 16 proteins that were significantly altered in AS individuals in a sex-specific manner. Three of these proteins were altered in females (ADIPO, IgA, APOA1), seven were changed in males (BMP6, CTGF, ICAM1, IL-12p70, IL-16, TF, TNF-alpha) and six were changed in both sexes but in opposite directions (CHGA, EPO, IL-3, TENA, PAP, SHBG). Shotgun LC-MSE profiling led to identification of 13 serum proteins which had significant sex-specific changes in the AS group and, of these, 12 were altered in females (APOC2, APOE, ARMC3, CLC4K, FETUB, GLCE, MRRP1, PTPA, RN149, TLE1, TRIPB, ZC3HE) and one protein was altered in males (RGPD4). The free androgen index in females with AS showed an increased ratio of 1.63 compared to controls.
Conclusion: Taken together, the serum multiplex immunoassay and shotgun LC-MSE profiling results indicate that adult females with AS had alterations in proteins involved mostly in lipid transport and metabolism pathways, while adult males with AS showed changes predominantly in inflammation signalling. These results provide further evidence that the search for biomarkers or novel drug targets in AS may require stratification into male and female subgroups, and could lead to the development of novel targeted treatment approaches.
C1 [Steeb, Hannah; Ramsey, Jordan M.; Guest, Paul C.; Stocki, Pawel; Cooper, Jason D.; Rahmoune, Hassan; Bahn, Sabine] Univ Cambridge, Dept Chem Engn & Biotechnol, Cambridge, England.
[Ingudomnukul, Erin; Auyeung, Bonnie; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge CB2 8AH, England.
[Ruta, Liliana] Stella Maris Sci Inst, Dept Dev Neurosci, Div Child Neurol & Psychiat, Pisa, Italy.
[Bahn, Sabine] Erasmus MC, Dept Neurosci, Rotterdam, Netherlands.
RP Bahn, S (reprint author), Univ Cambridge, Dept Chem Engn & Biotechnol, Tennis Court Rd, Cambridge, England.
EM sb209@cam.ac.uk
FU Autism Speaks [6009]; Dutch Fund for Economic Structure Reinforcement
(FES) [0908]; MRC UK; Wellcome Trust; Autism Research Trust; Nancy Lurie
Marks Family Foundation
FX This work was funded by Autism Speaks Grant #6009, the Dutch Fund for
Economic Structure Reinforcement (FES), under grant agreement number
0908 (NeuroBasicPharmaPhenomics project). SBC, BA, EI and LR were
supported by the MRC UK, the Wellcome Trust, the Autism Research Trust,
and the Nancy Lurie Marks Family Foundation during the period of this
work, and were part of the NIHRCLAHRC for Cambridgeshire and
Peterborough NHS Foundation Trust.
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NR 65
TC 6
Z9 6
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 JAN 27
PY 2014
VL 5
AR 4
DI 10.1186/2040-2392-5-4
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KM
UT WOS:000334964600001
PM 24467795
ER
PT J
AU Akechi, H
Kikuchi, Y
Tojo, Y
Osanai, H
Hasegawa, T
AF Akechi, Hironori
Kikuchi, Yukiko
Tojo, Yoshikuni
Osanai, Hiroo
Hasegawa, Toshikazu
TI Neural and behavioural responses to face-likeness of objects in
adolescents with autism spectrum disorder
SO SCIENTIFIC REPORTS
LA English
DT Article
ID EARLY RECOGNITION; HOME VIDEOTAPES; PERCEPTION; CHILDREN; ATTENTION;
STIMULI; BRAIN; CORTEX; ADULTS; N170
AB Numerous studies have revealed atypical face processing in autism spectrum disorders (ASD) characterized by social interaction and communication difficulties. This study investigated sensitivity to face-likeness in ASD. In Experiment 1, we found a strong positive correlation between the face-likeness ratings of non-face objects in the ASD (11-19 years old) and the typically developing (TD) group (9-21 years old). In Experiment 2 (the scalp-recorded event-related potential experiment), the participants of both groups (ASD, 12-19 years old; TD, 12-18 years old) exhibited an enhanced face-sensitive N170 amplitude to a face-like object. Whereas the TD adolescents showed an enhanced N170 during the face-likeness judgements, adolescents with ASD did not. Thus, both individuals with ASD and TD individuals have a perceptual and neural sensitivity to face-like features in objects. When required to process face-like features, a face-related brain system reacts more strongly in TD individuals but not in individuals with ASD.
C1 [Akechi, Hironori; Kikuchi, Yukiko] Japan Soc Promot Sci, Tokyo, Japan.
[Akechi, Hironori] Tokyo Denki Univ, Div Informat Syst Design, Saitama, Japan.
[Kikuchi, Yukiko; Tojo, Yoshikuni] Ibaraki Univ, Coll Educ, Ibaraki, Japan.
[Osanai, Hiroo] Musashino Higashi Ctr Educ & Res, Tokyo, Japan.
[Hasegawa, Toshikazu] Univ Tokyo, Dept Cognit & Behav Sci, Tokyo 1538902, Japan.
RP Akechi, H (reprint author), Japan Soc Promot Sci, Tokyo, Japan.
EM akechi@cogn.jp
FU Japan Society for the Promotion of Science (JSPS) [2310946, 2310196,
24330207, 23330271]; Center for Evolutionary Cognitive Sciences at
University of Tokyo
FX We would like to acknowledge all the participants, their family, and the
teachers of Musashino Higashi Gakuen. We thank Saori Usui for help in
data collection and Motoyuki Sanada for helpful comments on ERP
analysis. This study was supported by 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.) and #23330271 (Y.T.), and Center for Evolutionary
Cognitive Sciences at University of Tokyo.
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NR 62
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 JAN 27
PY 2014
VL 4
AR 3874
DI 10.1038/srep03874
PG 7
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA AA4WM
UT WOS:000331097300004
PM 24464152
ER
PT J
AU Keil, AP
Daniels, JL
Hertz-Picciotto, I
AF Keil, Alexander P.
Daniels, Julie L.
Hertz-Picciotto, Irva
TI Autism spectrum disorder, flea and tick medication, and adjustments for
exposure misclassification: the CHARGE (CHildhood Autism Risks from
Genetics and Environment) case-control study
SO ENVIRONMENTAL HEALTH
LA English
DT Article
DE Autism; Bayesian; Imidacloprid; Measurement error; Neonicotinoids;
Pesticides
ID FIBRILLARY ACIDIC PROTEIN; BIRTH-DEFECTS EPIDEMIOLOGY;
AUTOIMMUNE-DISEASES; INFANTILE-AUTISM; MULTIETHNIC POPULATION;
AGRICULTURAL PESTICIDE; AMERICAN CHILDREN; PRENATAL EXPOSURE;
NEURODEVELOPMENT; CALIFORNIA
AB Background: The environmental contribution to autism spectrum disorders (ASD) is largely unknown, but household pesticides are receiving increased attention. We examined associations between ASD and maternally-reported use of imidacloprid, a common flea and tick treatment for pets.
Methods: Bayesian logistic models were used to estimate the association between ASD and imidacloprid and to correct for potential differential exposure misclassification due to recall in a case control study of ASD.
Results: Our analytic dataset included complete information for 262 typically developing controls and 407 children with ASD. Compared with exposure among controls, the odds of prenatal imidacloprid exposure among children with ASD were slightly higher, with an odds ratio (OR) of 1.3 (95% Credible Interval [ CrI] 0.78, 2.2). A susceptibility window analysis yielded higher ORs for exposures during pregnancy than for early life exposures, whereas limiting to frequent users of imidacloprid, the OR increased to 2.0 (95% CI 1.0, 3.9).
Conclusions: Within plausible estimates of sensitivity and specificity, the association could result from exposure misclassification alone. The association between imidacloprid exposure and ASD warrants further investigation, and this work highlights the need for validation studies regarding prenatal exposures in ASD.
C1 [Keil, Alexander P.; Daniels, Julie L.] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC 27599 USA.
[Hertz-Picciotto, Irva] Univ Calif Davis, Sch Med, Davis, CA 95616 USA.
[Hertz-Picciotto, Irva] Univ Calif Davis, MIND Med Invest Neurodev Disorders Inst, Davis, CA 95616 USA.
RP Keil, AP (reprint author), Univ N Carolina, Dept Epidemiol, CB 7435, Chapel Hill, NC 27599 USA.
EM akeil@unc.edu
FU National Institutes of Health [P01-ES11269, R01-ES015359]; U.S.
Environmental Protection Agency STAR [R-829388, R-833292]; National
Institute of Health [T32 ES007018]
FX The CHARGE Study was funded by National Institutes of Health grants
#P01-ES11269, #R01-ES015359, and U.S. Environmental Protection Agency
STAR grants #R-829388 & R-833292. Funding for this project (AK) was
provided by the National Institute of Health grant #T32 ES007018.
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NR 59
TC 2
Z9 2
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 JAN 23
PY 2014
VL 13
AR 3
DI 10.1186/1476-069X-13-3
PG 10
WC Environmental Sciences; Public, Environmental & Occupational Health
SC Environmental Sciences & Ecology; Public, Environmental & Occupational
Health
GA AF2JQ
UT WOS:000334538800001
PM 24456651
ER
PT J
AU Cygan, HB
Tacikowski, P
Ostaszewski, P
Chojnicka, I
Nowicka, A
AF Cygan, Hanna B.
Tacikowski, Pawel
Ostaszewski, Pawel
Chojnicka, Izabela
Nowicka, Anna
TI Neural Correlates of Own Name and Own Face Detection in Autism Spectrum
Disorder
SO PLOS ONE
LA English
DT Article
ID EVENT-RELATED POTENTIALS; VISUAL SELECTIVE ATTENTION; PERSONALLY
FAMILIAR FACES; BRAIN POTENTIALS; SELF-FACE; ASPERGERS-SYNDROME; SOCIAL
COGNITION; WORD RECOGNITION; TEMPORAL CORTEX; ERP COMPONENTS
AB Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition clinically characterized by social interaction and communication difficulties. To date, the majority of research efforts have focused on brain mechanisms underlying the deficits in interpersonal social cognition associated with ASD. Recent empirical and theoretical work has begun to reveal evidence for a reduced or even absent self-preference effect in patients with ASD. One may hypothesize that this is related to the impaired attentional processing of self-referential stimuli. The aim of our study was to test this hypothesis. We investigated the neural correlates of face and name detection in ASD. Four categories of face/name stimuli were used: own, close-other, famous, and unknown. Event-related potentials were recorded from 62 electrodes in 23 subjects with ASD and 23 matched control subjects. P100, N170, and P300 components were analyzed. The control group clearly showed a significant self-preference effect: higher P300 amplitude to the presentation of own face and own name than to the close-other, famous, and unknown categories, indicating preferential attentional engagement in processing of self-related information. In contrast, detection of both own and close-other's face and name in the ASD group was associated with enhanced P300, suggesting similar attention allocation for self and close-other related information. These findings suggest that attention allocation in the ASD group is modulated by the personal significance factor, and that the self-preference effect is absent if self is compared to close-other. These effects are similar for physical and non-physical aspects of the autistic self. In addition, lateralization of face and name processing is attenuated in ASD, suggesting atypical brain organization.
C1 [Cygan, Hanna B.; Tacikowski, Pawel; Nowicka, Anna] Nencki Inst Expt Biol, Dept Neurophysiol, Psychophysiol Lab, Warsaw, Poland.
[Tacikowski, Pawel] Karolinska Inst, Dept Neurosci Brain Body & Self Lab, Stockholm, Sweden.
[Ostaszewski, Pawel] Univ Social Sci & Humanities, Dept Psychol, Warsaw, Poland.
[Chojnicka, Izabela] Med Univ Warsaw, Dept Med Genet, Warsaw, Poland.
RP Nowicka, A (reprint author), Nencki Inst Expt Biol, Dept Neurophysiol, Psychophysiol Lab, Warsaw, Poland.
EM a.nowicka@nencki.gov.pl
FU National Science Centre, Warsaw, Poland [2011/01/B/HS6/00683]
FX This work was supported by the National Science Centre, Warsaw, Poland
(grant 2011/01/B/HS6/00683). 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 111
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 JAN 22
PY 2014
VL 9
IS 1
AR e86020
DI 10.1371/journal.pone.0086020
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 297VL
UT WOS:000330283100098
PM 24465847
ER
PT J
AU Foley, KA
Ossenkopp, KP
Kavaliers, M
MacFabe, DF
AF Foley, Kelly A.
Ossenkopp, Klaus-Peter
Kavaliers, Martin
MacFabe, Derrick F.
TI Pre- and Neonatal Exposure to Lipopolysaccharide or the Enteric
Metabolite, Propionic Acid, Alters Development and Behavior in
Adolescent Rats in a Sexually Dimorphic Manner
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; MATERNAL IMMUNE ACTIVATION; FETAL-BRAIN
DEVELOPMENT; BODY-WEIGHT REGULATION; ANXIETY-LIKE BEHAVIOR; CHAIN
FATTY-ACIDS; VALPROIC ACID; GENE-EXPRESSION; PRENATAL STRESS;
EXPLORATORY-BEHAVIOR
AB Alterations in the composition of the gut microbiome and/or immune system function may have a role in the development of autism spectrum disorders (ASD). The current study examined the effects of prenatal and early life administration of lipopolysaccharide (LPS), a bacterial mimetic, and the short chain fatty acid, propionic acid (PPA), a metabolic fermentation product of enteric bacteria, on developmental milestones, locomotor activity, and anxiety-like behavior in adolescent male and female offspring. Pregnant Long-Evans rats were subcutaneously injected once a day with PPA (500 mg/kg) on gestation days G12-16, LPS (50 mu g/kg) on G15-16, or vehicle control on G12-16 or G15-16. Male and female offspring were injected with PPA (500 mg/kg) or vehicle twice a day, every second day from postnatal days (P) 10-18. Physical milestones and reflexes were monitored in early life with prenatal PPA and LPS inducing delays in eye opening. Locomotor activity and anxiety were assessed in adolescence (P40-42) in the elevated plus maze (EPM) and open-field. Prenatal and postnatal treatments altered behavior in a sex-specific manner. Prenatal PPA decreased time spent in the centre of the open-field in males and females while prenatal and postnatal PPA increased anxiety behavior on the EPM in female rats. Prenatal LPS did not significantly influence those behaviors. Evidence for the double hit hypothesis was seen as females receiving a double hit of PPA (prenatal and postnatal) displayed increased repetitive behavior in the open-field. These results provide evidence for the hypothesis that by-products of enteric bacteria metabolism such as PPA may contribute to ASD, altering development and behavior in adolescent rats similar to that observed in ASD and other neurodevelopmental disorders.
C1 [Foley, Kelly A.; Ossenkopp, Klaus-Peter; Kavaliers, Martin] Univ Western Ontario, Grad Program Neurosci, London, ON, Canada.
[Foley, Kelly A.; Ossenkopp, Klaus-Peter; Kavaliers, Martin; MacFabe, Derrick F.] Univ Western Ontario, Dept Psychol, London, ON, Canada.
[Ossenkopp, Klaus-Peter; Kavaliers, Martin] Univ Western Ontario, Dept Psychol, Kilee Patchell Evans Autism Res Grp, London, ON, Canada.
[MacFabe, Derrick F.] Univ Western Ontario, Dept Psychol, Div Dev Disabil, Kilee Patchell Evans Autism Res Grp, London, ON, Canada.
[MacFabe, Derrick F.] Univ Western Ontario, Dept Psychiat, London, ON N6A 3K7, Canada.
RP Foley, KA (reprint author), Univ Western Ontario, Grad Program Neurosci, London, ON, Canada.
EM kfoley6@uwo.ca
FU GoodLife Children's Charities; Autism Research Institute (ARI); Natural
Science and Engineering Research Council of Canada; Ontario Graduate
Scholarship
FX This research was supported by contributions from GoodLife Children's
Charities and Autism Research Institute (ARI) to Derrick MacFabe and by
Natural Science and Engineering Research Council of Canada Grants to
Klaus-Peter Ossenkopp and Martin Kavaliers. Kelly Foley was supported by
the Ontario Graduate Scholarship. 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 77
TC 9
Z9 9
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 JAN 22
PY 2014
VL 9
IS 1
AR e87072
DI 10.1371/journal.pone.0087072
PG 13
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 297VL
UT WOS:000330283100249
PM 24466331
ER
PT J
AU Marsh, LE
Ropar, D
Hamilton, AFD
AF Marsh, Lauren E.
Ropar, Danielle
Hamilton, Antonia F. de C.
TI The Social Modulation of Imitation Fidelity in School-Age Children
SO PLOS ONE
LA English
DT Article
ID OVER-IMITATION; YOUNG-CHILDREN; TOOL-USE; OVERIMITATION; TELEVISION;
MIMICRY; AUTISM; MECHANISMS; 3RD-PARTY; COGNITION
AB Children copy the actions of others with high fidelity, even when they are not causally relevant. This copying of visibly unnecessary actions is termed overimitation. Many competing theories propose mechanisms for overimitation behaviour. The present study examines these theories by studying the social factors that lead children to overimitate actions. Ninety-four children aged 5- to 8-years each completed five trials of an overimitation task. Each trial provided the opportunity to overimitate an action on familiar objects with minimal causal reasoning demands. Social cues (live or video demonstration) and eye contact from the demonstrator were manipulated. After the imitation, children's ratings of action rationality were collected. Substantial overimitation was seen which increased with age. In older children, overimitation was higher when watching a live demonstrator and when eye contact was absent. Actions rated as irrational were more likely to be imitated than those rated as rational. Children overimitated actions on familiar objects even when they rated those actions as irrational, suggesting that failure of causal reasoning cannot be driving overimitation. Our data support social explanations of overimitation and show that the influence of social factors increases with age over the 5- to 8-year-old age range.
C1 [Marsh, Lauren E.; Ropar, Danielle; Hamilton, Antonia F. de C.] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, Notts, England.
[Marsh, Lauren E.] Univ Surrey, Sch Psychol, Guildford GU2 5XH, Surrey, England.
[Hamilton, Antonia F. de C.] UCL, Inst Cognit Neurosci, London, England.
RP Marsh, LE (reprint author), Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, Notts, England.
EM l.marsh@surrey.ac.uk
RI Hamilton, Antonia/B-3612-2008
OI Hamilton, Antonia/0000-0001-8000-0219
FU University of Nottingham
FX This study was conducted as part of LM's PhD funded by the University of
Nottingham. The funders had no role in study design, data collection and
analysis, decision to publish, or preparation of the manuscript.
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NR 45
TC 5
Z9 5
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 JAN 22
PY 2014
VL 9
IS 1
AR e86127
DI 10.1371/journal.pone.0086127
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 297VL
UT WOS:000330283100109
PM 24465913
ER
PT J
AU Xu, XX
Wells, AB
O'Brien, DR
Nehorai, A
Dougherty, JD
AF Xu, Xiaoxiao
Wells, Alan B.
O'Brien, David R.
Nehorai, Arye
Dougherty, Joseph D.
TI Cell Type-Specific Expression Analysis to Identify Putative Cellular
Mechanisms for Neurogenetic Disorders
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; DE-NOVO MUTATIONS; CENTRAL-NERVOUS-SYSTEM;
COPY NUMBER VARIATION; PARKINSONS-DISEASE; SUPEROXIDE-DISMUTASE;
GABAERGIC NEURONS; SLEEP REGULATION; HUMAN BRAIN; GENE
AB Recent advances have substantially increased the number of genes that are statistically associated with complex genetic disorders of the CNS such as autism and schizophrenia. It is now clear that there will likely be hundreds of distinct loci contributing to these disorders, underscoring a remarkable genetic heterogeneity. It is unclear whether this genetic heterogeneity indicates an equal heterogeneity of cellular mechanisms for these diseases. The commonality of symptoms across patients suggests there could be a functional convergence downstream of these loci upon a limited number of cell types or circuits that mediate the affected behaviors. One possible mechanism for this convergence would be the selective expression of at least a subset of these genes in the cell types that comprise these circuits. Using profiling data from mice and humans, we have developed and validated an approach, cell type-specific expression analysis, for identifying candidate cell populations likely to be disrupted across sets of patients with distinct genetic lesions. Using human genetics data and postmortem gene expression data, our approach can correctly identify the cell types for disorders of known cellular etiology, including narcolepsy and retinopathies. Applying this approach to autism, a disease where the cellular mechanism is unclear, indicates there may be multiple cellular routes to this disorder. Our approach may be useful for identifying common cellular mechanisms arising from distinct genetic lesions.
C1 [Xu, Xiaoxiao; Nehorai, Arye] Washington Univ, Preston M Green Dept Elect & Syst Engn, St Louis, MO 63110 USA.
[Wells, Alan B.; O'Brien, David R.; Dougherty, Joseph D.] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA.
[Wells, Alan B.; O'Brien, David R.; Dougherty, Joseph D.] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA.
RP Dougherty, JD (reprint author), Washington Univ, Sch Med, Dept Genet, Campus Box 8232,4566 Scott Ave, St Louis, MO 63110 USA.
EM jdougherty@genetics.wustl.edu
FU Hope Center; Children's Discovery Institute [MDII2013269]; National
Institutes of Health [4R00NS067239-03, R01MH100027]; National Science
Foundation [CCF0963742]
FX This work was supported by The Hope Center, the Children's Discovery
Institute (Grant MDII2013269), the National Institutes of Health (Grants
4R00NS067239-03 and R01MH100027), and the National Science Foundation
(Grant CCF0963742 to A.N.). We thank Dr. Joseph Corbo for retinal array
data; Neel Parikshak for curated sets of autism genes from exome
studies; and Han Yuan, Kyle Kniekamp, and Robert Altman for
computational assistance.
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NR 69
TC 4
Z9 4
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 JAN 22
PY 2014
VL 34
IS 4
BP 1420
EP 1431
DI 10.1523/JNEUROSCI.4488-13.2014
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 298YM
UT WOS:000330360700032
PM 24453331
ER
PT J
AU Wigham, S
McConachie, H
AF Wigham, Sarah
McConachie, Helen
TI Systematic Review of the Properties of Tools Used to Measure Outcomes in
Anxiety Intervention Studies for Children with Autism Spectrum Disorders
SO PLOS ONE
LA English
DT Article
ID TEST-RETEST RELIABILITY; ETHNIC MEASUREMENT EQUIVALENCE;
OBSESSIVE-COMPULSIVE DISORDER; MULTIPLE INFORMANT AGREEMENT;
COGNITIVE-BEHAVIORAL THERAPY; PSYCHOMETRIC PROPERTIES; EMOTIONAL
DISORDERS; INTERVIEW SCHEDULE; MANIFEST ANXIETY; DSM-IV
AB Background: Evidence about relevant outcomes is required in the evaluation of clinical interventions for children with autism spectrum disorders (ASD). However, to date, the variety of outcome measurement tools being used, and lack of knowledge about the measurement properties of some, compromise conclusions regarding the most effective interventions.
Objectives: This two-stage systematic review aimed to identify the tools used in studies evaluating interventions for anxiety for high-functioning children with ASD in middle childhood, and then to evaluate the tools for their appropriateness and measurement properties.
Methods: Electronic databases including Medline, PsychInfo, Embase, and the Cochrane database and registers were searched for anxiety intervention studies for children with ASD in middle childhood. Articles examining the measurement properties of the tools used were then searched for using a methodological filter in PubMed, and the quality of the papers evaluated using the COSMIN checklist.
Results: Ten intervention studies were identified in which six tools measuring anxiety and one of overall symptom change were used as primary outcomes. One further tool was included as it is recommended for standard use in UK children's mental health services. Sixty three articles on the properties of the tools were evaluated for the quality of evidence, and the quality of the measurement properties of each tool was summarised.
Conclusions: Overall three questionnaires were found robust in their measurement properties, the Spence Children's Anxiety Scale, its revised version - the Revised Children's Anxiety and Depression Scale, and also the Screen for Child Anxiety Related Emotional Disorders. Crucially the articles on measurement properties provided almost no evidence on responsiveness to change, nor on the validity of use of the tools for evaluation of interventions for children with ASD.
C1 [Wigham, Sarah; McConachie, Helen] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
RP McConachie, H (reprint author), Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England.
EM helen.mcconachie@ncl.ac.uk
FU Northumberland Tyne and Wear National Health Service Foundation Trust
FX The review was funded by Research Capacity Funding from the
Northumberland Tyne and Wear National Health Service Foundation Trust.
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 108
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 JAN 21
PY 2014
VL 9
IS 1
AR e85268
DI 10.1371/journal.pone.0085268
PG 17
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 297GT
UT WOS:000330244500047
PM 24465519
ER
PT J
AU Nudel, R
Simpson, NH
Baird, G
O'Hare, A
Conti-Ramsden, G
Bolton, PF
Hennessy, ER
Monaco, AP
Knight, JC
Winney, B
Fisher, SE
Newbury, DF
AF Nudel, Ron
Simpson, Nuala H.
Baird, Gillian
O'Hare, Anne
Conti-Ramsden, Gina
Bolton, Patrick F.
Hennessy, Elizabeth R.
Monaco, Anthony P.
Knight, Julian C.
Winney, Bruce
Fisher, Simon E.
Newbury, Dianne F.
CA The SLI Consortium
TI Associations of HLA alleles with specific language impairment
SO JOURNAL OF NEURODEVELOPMENTAL DISORDERS
LA English
DT Article
DE Specific language impairment (SLI); HLA; Neurodevelopmental disorders;
Genetic association
ID FALSE DISCOVERY RATE; SHORT-TERM-MEMORY; DISEASE ASSOCIATIONS; NONWORD
REPETITION; GENE-EXPRESSION; AUTISM; LINKAGE; LOCUS; DISORDER;
SCHIZOPHRENIA
AB Background: Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loci in specific language impairment (SLI), a disorder that is defined primarily upon unexpected language impairment. We report association analyses of single-nucleotide polymorphisms (SNPs) and HLA types in a cohort of individuals affected by language impairment.
Methods: We perform quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and imputed HLA types.
Results: Quantitative association analyses of imputed HLA types suggested a role for the HLA-A locus in susceptibility to SLI. HLA-A A1 was associated with a measure of short-term memory (P = 0.004) and A3 with expressive language ability (P = 0.006). Parent-of-origin effects were found between HLA-B B8 and HLA-DQA1*0501 and receptive language. These alleles have a negative correlation with receptive language ability when inherited from the mother (P = 0.021, P = 0.034, respectively) but are positively correlated with the same trait when paternally inherited (P = 0.013, P = 0.029, respectively). Finally, case control analyses using imputed HLA types indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls (P = 0.004, relative risk = 2.575), as has been reported for individuals with attention deficit hyperactivity disorder (ADHD).
Conclusion: These preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders.
C1 [Nudel, Ron; Simpson, Nuala H.; Monaco, Anthony P.; Knight, Julian C.; Newbury, Dianne F.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
[Baird, Gillian] Evelina Childrens Hosp, Newcomen Ctr, London SE1 7EH, England.
[O'Hare, Anne] Univ Edinburgh, Dept Reprod & Dev Sci, Edinburgh EH9 1UW, Midlothian, Scotland.
[Conti-Ramsden, Gina] Univ Manchester, Sch Psychol Sci, Manchester M13 9PL, Lancs, England.
[Bolton, Patrick F.] Kings Coll London, Dept Child & Adolescent Psychiat, Social Genet & Dev Psychiat Ctr, Inst Psychiat, London SE5 8AF, England.
[Hennessy, Elizabeth R.] Univ Aberdeen, Univ Child Hlth, Aberdeen AB25 2ZG, Scotland.
[Hennessy, Elizabeth R.] Univ Aberdeen, DMDE, Aberdeen AB25 2ZG, Scotland.
[Monaco, Anthony P.] Tufts Univ, Medford, MA 02155 USA.
[Winney, Bruce] Univ Oxford, Dept Oncol, ORCRB, Oxford OX3 7DQ, England.
[Fisher, Simon E.] Max Planck Inst Psycholinguist, NL-6525 XD Nijmegen, Netherlands.
[Fisher, Simon E.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EZ Nijmegen, Netherlands.
RP Newbury, DF (reprint author), Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.
EM dianne@well.ox.ac.uk
RI Fisher, Simon/E-9130-2012; Monaco, Anthony/A-4495-2010; Bolton,
Patrick/E-8501-2010
OI Fisher, Simon/0000-0002-3132-1996; Monaco, Anthony/0000-0001-7480-3197;
Bolton, Patrick/0000-0002-5270-6262
FU MRC [G1000569/1, MR/J003719/1]; University of Oxford Nuffield Department
of Medicine; Max Planck Society; Wellcome Trust [060774, 076566, 074318,
088891, 072974, 088262, 090532/Z/09/Z]; European Research Council under
the European Union [281824]; National Institute for Health Research
(NIHR) Oxford Biomedical Research Centre; NIHR (UK); Biomedical Research
Centre in Mental Health at the South London & Maudsley NHS Trust
Hospital, London
FX We would like to thank all the families, professionals, and individuals
who participated in this research. In particular, we would like to thank
Simon Fiddy for his assistance with data transformation and Benjamin
Fairfax for the use of the Oxfordshire Control samples. DN is a Medical
Research Council (MRC) Career Development Fellow and a Junior Research
Fellow at St John's College, University of Oxford. The work of the DN
lab is funded by the MRC (G1000569/1 and MR/J003719/1). RN is funded by
a University of Oxford Nuffield Department of Medicine Prize
Studentship. 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). Recruitment of controls for the
Oxfordshire study of gene expression in primary immune cells was
supported by the Wellcome Trust (074318 and 088891), the European
Research Council under the European Union's Seventh Framework Programme
(FP7/2007-2013) (281824), and the National Institute for Health Research
(NIHR) Oxford Biomedical Research Centre. Recruitment of controls for
the POBI study was supported by the Wellcome Trust (072974, 088262). PFB
is supported by an NIHR (UK) Senior Investigator award and the
Biomedical Research Centre in Mental Health at the South London &
Maudsley NHS Trust Hospital, London. The work of the Wellcome Trust
Centre in Oxford is supported by the Wellcome Trust (090532/Z/09/Z). We
are very grateful to the other members of the SLIC for their
contributions to this work: V. Slonims (Newcomen Centre, Evelina
Children's Hospital, London), A. Clark, J. Watson (Speech and Hearing
Sciences, Queen Margaret University, Edinburgh, UK), E. Simonoff, A
Pickles (King's College London, Institute of Psychiatry); A. Everitt
(University Child Health and DMDE, University of Aberdeen); J. Seckl
(Molecular Medicine Centre, University of Edinburgh); H. Cowie
(Department of Speech and Language Therapy, Royal Hospital for Sick
Children, Edinburgh); W. Cohen (Psychological Sciences and Health,
University of Strathclyde); J. Nasir (Division of Biomedical Sciences,
St George's University of London); D. V. M. Bishop (Department of
Experimental Psychology, University of Oxford); Z. Simkin (School of
Psychological Sciences, University of Manchester).
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NR 55
TC 2
Z9 2
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 JAN 17
PY 2014
VL 6
AR 1
DI 10.1186/1866-1955-6-1
PG 9
WC Clinical Neurology; Neurosciences
SC Neurosciences & Neurology
GA AB1OE
UT WOS:000331560900001
PM 24433325
ER
PT J
AU Bersten, DC
Bruning, JB
Peet, DJ
Whitelaw, ML
AF Bersten, David C.
Bruning, John B.
Peet, Daniel J.
Whitelaw, Murray L.
TI Human Variants in the Neuronal Basic Helix-Loop-Helix/Per-Arnt-Sim
(bHLH/PAS) Transcription Factor Complex NPAS4/ARNT2 Disrupt Function
SO PLOS ONE
LA English
DT Article
ID ARYL-HYDROCARBON RECEPTOR; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS;
PAS DOMAIN; RESPONSE ELEMENT; GENE-EXPRESSION; DNA-BINDING; CROSS-TALK;
PROTEIN; OBESITY
AB Neuronal Per-Arnt-Sim homology (PAS) Factor 4 (NPAS4) is a neuronal activity-dependent transcription factor which heterodimerises with ARNT2 to regulate genes involved in inhibitory synapse formation. NPAS4 functions to maintain excitatory/inhibitory balance in neurons, while mouse models have shown it to play roles in memory formation, social interaction and neurodegeneration. NPAS4 has therefore been implicated in a number of neuropsychiatric or neurodegenerative diseases which are underpinned by defects in excitatory/inhibitory balance. Here we have explored a broad set of non-synonymous human variants in NPAS4 and ARNT2 for disruption of NPAS4 function. We found two variants in NPAS4 (F147S and E257K) and two variants in ARNT2 (R46W and R107H) which significantly reduced transcriptional activity of the heterodimer on a luciferase reporter gene. Furthermore, we found that NPAS4. F147S was unable to activate expression of the NPAS4 target gene BDNF due to reduced dimerisation with ARNT2. Homology modelling predicts F147 in NPAS4 to lie at the dimer interface, where it appears to directly contribute to protein/protein interaction. We also found that reduced transcriptional activation by ARNT2 R46W was due to disruption of nuclear localisation. These results provide insight into the mechanisms of NPAS4/ARNT dimerisation and transcriptional activation and have potential implications for cognitive phenotypic variation and diseases such as autism, schizophrenia and dementia.
C1 [Whitelaw, Murray L.] Univ Adelaide, Sch Mol & Biomed Sci Biochem, Adelaide, SA, Australia.
Univ Adelaide, Australian Res Council Special Res Ctr Mol Genet, Adelaide, SA, Australia.
RP Whitelaw, ML (reprint author), Univ Adelaide, Sch Mol & Biomed Sci Biochem, Adelaide, SA, Australia.
EM murray.whitelaw@adelaide.edu.au
FU Australian Research Council
FX This research was supported by the Australian Research Council. The
funders had no role in study design, data collection and analysis,
decision to publish, or preparation of the manuscript.
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NR 65
TC 4
Z9 4
PU PUBLIC LIBRARY SCIENCE
PI SAN FRANCISCO
PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA
SN 1932-6203
J9 PLOS ONE
JI PLoS One
PD JAN 17
PY 2014
VL 9
IS 1
AR e85768
DI 10.1371/journal.pone.0085768
PG 11
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 297EA
UT WOS:000330237000062
PM 24465693
ER
PT J
AU Tsunemi, K
Tamura, A
Ogawa, S
Isomura, T
Ito, H
Ida, M
Masataka, N
AF Tsunemi, Kohei
Tamura, Ayana
Ogawa, Shino
Isomura, Tomoko
Ito, Hiroyasu
Ida, Misako
Masataka, Nobuo
TI Intensive exposure to narrative in story books as a possibly effective
treatment of social perspective-taking in schoolchildren with autism
SO FRONTIERS IN PSYCHOLOGY
LA English
DT Article
DE autism; narrative; social perspective-taking; mental state; treatment
ID TEACHING THEORY; CHILDREN; MIND; COMPREHENSION; ACTIVATION; EMOTIONS;
ABILITY; EMPATHY
AB One of the major characteristics of autism is impairment of communication and socialization. While such impairment per se has been well documented, research into effective interventions for children with this developmental disorder is still limited. Here we present preliminary evidence for the possibility of improvement of the capability of social perspective-taking in schoolchildren with autism by having intensive experience with narrative, in which they were exposed to narrative in story books read by their parents over a consecutive 5- to 6-day-period. When their capability was evaluated on the basis of a conventional role-taking task, the mean score tended to increase after the exposure as compared to before the exposure, whereas such a change was not recorded in children who did not experience such exposure. These effects were confirmed when the children were retested 4 months later. Although preliminary, the current study represents a step toward the development of more effective social perspective-taking interventions for children with autism
C1 [Tsunemi, Kohei] Iwaki Jr Coll, Iwaki, Fukushima, Japan.
[Tamura, Ayana] Showa Womens Univ, Tokyo, Japan.
[Ogawa, Shino; Isomura, Tomoko; Ito, Hiroyasu; Ida, Misako; Masataka, Nobuo] Kyoto Univ, Primate Res Inst, Inuyama, Aichi 4848506, Japan.
RP Masataka, N (reprint author), Kyoto Univ, Primate Res Inst, Inuyama, Aichi 4848506, Japan.
EM masataka@pri.kyoto-u.ac.jp
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NR 36
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1664-1078
J9 FRONT PSYCHOL
JI Front. Psychol.
PD JAN 16
PY 2014
VL 5
AR 2
DI 10.3389/fpsyg.2014.00002
PG 8
WC Psychology, Multidisciplinary
SC Psychology
GA AA7GL
UT WOS:000331265500001
PM 24474946
ER
PT J
AU Stefansson, H
Meyer-Lindenberg, A
Steinberg, S
Magnusdottir, B
Morgen, K
Arnarsdottir, S
Bjornsdottir, G
BragiWalters, G
Jonsdottir, GA
Doyle, OM
Tost, H
Grimm, O
Kristjansdottir, S
Snorrason, H
Davidsdottir, SR
Gudmundsson, LJ
Jonsson, GF
Stefansdottir, B
Helgadottir, I
Haraldsson, M
Jonsdottir, B
Thygesen, JH
Schwarz, AJ
Didriksen, M
Stensbol, TB
Brammer, M
Kapur, S
Halldorsson, JG
Hreidarsson, S
Saemundsen, E
Sigurdsson, E
Stefansson, K
AF Stefansson, Hreinn
Meyer-Lindenberg, Andreas
Steinberg, Stacy
Magnusdottir, Brynja
Morgen, Katrin
Arnarsdottir, Sunna
Bjornsdottir, Gyda
BragiWalters, G.
Jonsdottir, Gudrun A.
Doyle, Orla M.
Tost, Heike
Grimm, Oliver
Kristjansdottir, Solveig
Snorrason, Heimir
Davidsdottir, Solveig R.
Gudmundsson, Larus J.
Jonsson, Gudbjorn F.
Stefansdottir, Berglind
Helgadottir, Isafold
Haraldsson, Magnus
Jonsdottir, Birna
Thygesen, Johan H.
Schwarz, Adam J.
Didriksen, Michael
Stensbol, Tine B.
Brammer, Michael
Kapur, Shitij
Halldorsson, Jonas G.
Hreidarsson, Stefan
Saemundsen, Evald
Sigurdsson, Engilbert
Stefansson, Kari
TI CNVs conferring risk of autism or schizophrenia affect cognition in
controls
SO NATURE
LA English
DT Article
ID SPATIAL WORKING-MEMORY; INTERNATIONAL NEUROPSYCHIATRIC INTERVIEW;
RECURRENT MICRODELETIONS; GLOBAL ASSESSMENT; DSM-IV; DEFICITS;
METAANALYSIS; 16P11.2; SCALE; PSYCHOSIS
AB In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia.
C1 [Stefansson, Hreinn; Steinberg, Stacy; Arnarsdottir, Sunna; Bjornsdottir, Gyda; BragiWalters, G.; Jonsdottir, Gudrun A.; Kristjansdottir, Solveig; Snorrason, Heimir; Gudmundsson, Larus J.; Jonsson, Gudbjorn F.; Stefansdottir, Berglind; Stefansson, Kari] deCODE Genet Amgen, IS-101 Reykjavik, Iceland.
[Meyer-Lindenberg, Andreas; Morgen, Katrin; Tost, Heike; Grimm, Oliver] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, D-68159 Mannheim, Germany.
[Magnusdottir, Brynja; Arnarsdottir, Sunna; Davidsdottir, Solveig R.; Helgadottir, Isafold; Haraldsson, Magnus; Sigurdsson, Engilbert] Natl Univ Hosp Reykjavik, Dept Psychiat, Landspitali, IS-101 Reykjavik, Iceland.
[Doyle, Orla M.; Brammer, Michael; Kapur, Shitij] Kings Coll London, Inst Psychiat, London SE5 8AF, England.
[Haraldsson, Magnus; Halldorsson, Jonas G.; Saemundsen, Evald; Sigurdsson, Engilbert] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland.
[Jonsdottir, Birna] Rontgen Domus, IS-101 Reykjavik, Iceland.
[Thygesen, Johan H.] Copenhagen Univ Hosp, Res Inst Biol Psychiat, Mental Hlth Ctr Sct Hans, DK-4000 Roskilde, Denmark.
[Schwarz, Adam J.] Eli Lilly & Co, Tailored Therapeut, Lilly Res Labs, Lilly Corp Ctr DC 1940, Indianapolis, IN 46285 USA.
[Didriksen, Michael; Stensbol, Tine B.] H Lundbeck & Co AS, DK-2500 Valby, Denmark.
[Hreidarsson, Stefan; Saemundsen, Evald] State Diagnost & Counselling Ctr, IS-200 Kopavogur, Iceland.
RP Stefansson, K (reprint author), deCODE Genet Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland.
EM A.Meyer-Lindenberg@zi-mannheim.de; kstefans@decode.is
RI Sigurdsson, Engilbert/D-2486-2014; Meyer-Lindenberg,
Andreas/H-1076-2011; Doyle, Orla/B-7839-2012
OI Sigurdsson, Engilbert/0000-0001-9404-7982; Meyer-Lindenberg,
Andreas/0000-0001-5619-1123;
FU Innovative Medicines Initiative Joint Undertaking [115008]; European
Union; EU [PsychDPC (GA 286213)]
FX The authors are grateful to the participants and we thank the research
nurses and staff at the Krokhals recruitment centre and
roentgentechnicians at Rontgen Domus. We also thank the staff at deCODE
genetics core facilities and all our colleagues for their important
contribution to this work. The research leading to these results has
received support from the Innovative Medicines Initiative Joint
Undertaking under grant agreement no. 115008 of which resources are
composed of EFPIA in-kind contribution and financial contribution from
the European Union's Seventh Framework Programme (FP7/2007-2013) and EU
funded FP7-People-2011-IAPP grant PsychDPC (GA 286213).
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NR 48
TC 67
Z9 68
PU NATURE PUBLISHING GROUP
PI LONDON
PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
SN 0028-0836
EI 1476-4687
J9 NATURE
JI Nature
PD JAN 16
PY 2014
VL 505
IS 7483
BP 361
EP +
DI 10.1038/nature12818
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 288OR
UT WOS:000329621800034
PM 24352232
ER
PT J
AU Stevenson, RA
Siemann, JK
Schneider, BC
Eberly, HE
Woynaroski, TG
Camarata, SM
Wallace, MT
AF Stevenson, Ryan A.
Siemann, Justin K.
Schneider, Brittany C.
Eberly, Haley E.
Woynaroski, Tiffany G.
Camarata, Stephen M.
Wallace, Mark T.
TI Multisensory Temporal Integration in Autism Spectrum Disorders
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE audiovisual; autism spectrum disorders; multisensory integration;
sensory processing; speech perception; temporal processing
ID CHILDREN; SPEECH; BINDING; PERCEPTION; DEFICIT; WINDOW; FACE
AB The new DSM-5 diagnostic criteria for autism spectrum disorders (ASDs) include sensory disturbances in addition to the well-established language, communication, and social deficits. One sensory disturbance seen in ASD is an impaired ability to integrate multisensory information into a unified percept. This may arise from an underlying impairment in which individuals with ASD have difficulty perceiving the temporal relationship between cross-modal inputs, an important cue for multisensory integration. Such impairments in multisensory processingmaycascade into higher-level deficits, impairing day-to-day functioning on tasks, such as speech perception. To investigate multisensory temporal processing deficits in ASD and their links to speech processing, the current study mapped performance on a number of multisensory temporal tasks (with both simple and complex stimuli) onto the ability of individuals with ASD to perceptually bind audiovisual speech signals. High-functioning children with ASD were compared with a group of typically developing children. Performance on the multisensory temporal tasks varied with stimulus complexity for both groups; less precise temporal processing was observed with increasing stimulus complexity. Notably, individuals with ASD showed a speech-specific deficit in multisensory temporal processing. Most importantly, the strength of perceptual binding of audiovisual speech observed in individuals with ASD was strongly related to their low-level multisensory temporal processing abilities. Collectively, the results represent the first to illustrate links between multisensory temporal function and speech processing in ASD, strongly suggesting that deficits in low-level sensory processing may cascade into higher-order domains, such as language and communication.
C1 [Stevenson, Ryan A.; Woynaroski, Tiffany G.; Wallace, Mark T.] Vanderbilt Univ, Med Ctr, Dept Hearing & Speech Sci, Nashville, TN 37232 USA.
[Stevenson, Ryan A.; Siemann, Justin K.; Wallace, Mark T.] Vanderbilt Brain Inst, Nashville, TN 37232 USA.
[Stevenson, Ryan A.; Siemann, Justin K.; Camarata, Stephen M.; Wallace, Mark T.] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA.
[Stevenson, Ryan A.; Camarata, Stephen M.] Univ Toronto, Dept Psychol, Toronto, ON M5S 3G3, Canada.
[Siemann, Justin K.] Vanderbilt Univ, Med Ctr, Grad Program Neurosci, Nashville, TN 37232 USA.
[Schneider, Brittany C.; Eberly, Haley E.] Vanderbilt Univ, Program Neurosci, Nashville, TN 37232 USA.
[Wallace, Mark T.] Vanderbilt Univ, Dept Psychol, Nashville, TN 37232 USA.
[Wallace, Mark T.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37232 USA.
RP Stevenson, RA (reprint author), 465 21st Ave South,7110 MRB III BioSci Bldg, Nashville, TN 37232 USA.
EM ryan.andrew.stevenson@gmail.com
FU National Institutes of Health [R34 DC010927, F32 DC011993, R21
CA183492]; Evaluation of Sensory Integration Treatment in ASD;
Multisensory Integration and Temporal Processing in ASD; Simons
Foundation Explorer Award; Vander-bilt Kennedy Center MARI/Hobbs Award;
Vanderbilt Brain Institute
FX This work was supported by National Institutes of Health Grant R34
DC010927, Evaluation of Sensory Integration Treatment in ASD, National
Institutes of Health Grant F32 DC011993, National Institutes of Health
Grant R21 CA183492, Multisensory Integration and Temporal Processing in
ASD, Simons Foundation Explorer Award, Vander-bilt Kennedy Center
MARI/Hobbs Award, and the Vanderbilt Brain Institute. We thank Zachary
Barnett for technical assistance and Lena Quinto for the speech stimuli.
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NR 40
TC 31
Z9 31
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 JAN 15
PY 2014
VL 34
IS 3
BP 691
EP 697
DI 10.1523/JNEUROSCI.3615-13.2014
PG 7
WC Neurosciences
SC Neurosciences & Neurology
GA 292QH
UT WOS:000329916600002
PM 24431427
ER
PT J
AU Bradstreet, JJ
Pacini, S
Ruggiero, M
AF Bradstreet, James Jeffrey
Pacini, Stefania
Ruggiero, Marco
TI A new methodology of viewing extra-axial fluid and cortical
abnormalities in children with autism via transcranial ultrasonography
SO FRONTIERS IN HUMAN NEUROSCIENCE
LA English
DT Article
DE transcranial ultrasound; autism spectrum disorders; extra-axial fluid;
cortical dysplasia; cerebral spinal fluid
ID LANGUAGE-ASSOCIATION CORTEX; SUBARACHNOID SPACE; SPECTRUM DISORDER;
CEREBROSPINAL-FLUID; INFANTS; INFLAMMATION; ENLARGEMENT; SONOGRAPHY;
ASYMMETRY; BRAIN
AB Background: Autism spectrum disorders (ASDs) are developmental conditions of uncertain etiology which have now affected more than 1% of the school-age population of children in many developed nations. Transcranial ultrasonography (TUS) via the temporal bone appeared to be a potential window of investigation to determine the presence of both cortical abnormalities and increased extra-axial fluid (EAF).
Methods: TUS was accomplished using a linear probe (105 MHz). Parents volunteered ASD subjects (N = 23; males 18, females 5) for evaluations (mean = 7.46 years +/- 3.97 years), and 15 neurotypical siblings were also examined (mean = 7.15 years +/- 4.49 years). Childhood Autism Rating Scale (CARS2 (R)) scores were obtained and the ASD score mean was 48.08 + 6.79 (Severe).
Results: Comparisons of the extra-axial spaces indicated increases in the ASD subjects. For EAF we scored based on the gyral summit distances between the arachnoid membrane and the cortical pia layer (subarachnoid space): (1) <0.05 cm, (2) 0.050.07 cm, (3) 0.080.10 cm, (4) >0.10 cm. All of the neurotypical siblings scored 1, whereas the ASD mean score was 3.41 +/- 0.67. We also defined cortical dysplasia as the following: hypoechoic lesions within the substance of the cortex, or disturbed layering within the gray matter. For cortical dysplasia we scored: (1) none observed, (2) rare hypoechogenic lesions and/or mildly atypical cortical layering patterns, (3) more common, but separated areas of cortical hypoechogenic lesions, (4) very common or confluent areas of cortical hypoechogenicity. Again all of the neurotypical siblings scored 1, while the ASD subjects mean score was 2.79 +/- 0.93.
Conclusion: TUS may be a useful screening technique for children at potential risk of ASDs which, if confirmed with repeated studies and high resolution MRI, provides rapid, non-invasive qualification of EAF, and cortical lesions.
C1 [Bradstreet, James Jeffrey] Newport Brain Res Lab, Newport Beach, CA USA.
[Bradstreet, James Jeffrey] Brain Treatment Ctr, Newport Beach, CA USA.
[Bradstreet, James Jeffrey] Brain Treatment Ctr, Buford, GA USA.
[Pacini, Stefania] Univ Florence, Dept Expt & Clin Med, Florence, Italy.
[Ruggiero, Marco] Univ Florence, Dept Expt & Clin Med Sci, Florence, Italy.
[Ruggiero, Marco] Immuno Biotech Ltd, St Peters Port, Guernsey, England.
RP Bradstreet, JJ (reprint author), Brain Treatment Ctr Atlanta, 4488 Commerce Dr, Buford, GA 30518 USA.
EM drbradstreet@braintreatmentcenter.com
FU Newport Brain Research Laboratory
FX We wish to thank the families for their cooperation with our studies. In
particular, we thank the Associazione Centostelle, Firenze, Italy for
their facilitation of collaborations between the U.S. and Italy. We also
thank the Newport Brain Research Laboratory for their generous grant for
a SonoSite M-Turbo (R) machine.
CR American College of Radiology (ACR); Society for Pediatric Radiology (SPR); Society of Radiologists in Ultrasound (SRU), 2012, J ULTRAS MED, V31, P1489
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CDC, 2012, MMWR SURVEILL SUMM, V61, P1
Chaste Pauline, 2012, Dialogues Clin Neurosci, V14, P281
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NR 42
TC 2
Z9 2
PU FRONTIERS RESEARCH FOUNDATION
PI LAUSANNE
PA PO BOX 110, LAUSANNE, 1015, SWITZERLAND
SN 1662-5161
J9 FRONT HUM NEUROSCI
JI Front. Hum. Neurosci.
PD JAN 15
PY 2014
VL 7
AR 934
DI 10.3389/fnhum.2013.00934
PG 11
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 293AY
UT WOS:000329945000001
PM 24459462
ER
PT J
AU Chen, Y
Storrs, J
Tan, LR
Mazlack, LJ
Lee, JH
Lu, LJ
AF Chen, Ye
Storrs, Judd
Tan, Lirong
Mazlack, Lawrence J.
Lee, Jing-Huei
Lu, Long J.
TI Detecting brain structural changes as biomarker from magnetic resonance
images using a local feature based SVM approach
SO JOURNAL OF NEUROSCIENCE METHODS
LA English
DT Article
DE Local features; Brain; Neurological diseases; Psychiatric diseases; MRI
images; SVM; Biomarker
ID DEFORMATION-BASED MORPHOMETRY; VOXEL-BASED MORPHOMETRY;
ALZHEIMERS-DISEASE; CLASSIFICATION; MRI; TRANSFORM; DISORDER; CHILDREN;
AUTISM; SCANS
AB Detecting brain structural changes from magnetic resonance (MR) images can facilitate early diagnosis and treatment of neurological and psychiatric diseases. Many existing methods require an accurate deformation registration, which is difficult to achieve and therefore prevents them from obtaining high accuracy. We develop a novel local feature based support vector machine (SVM) approach to detect brain structural changes as potential biomarkers. This approach does not require deformation registration and thus is less influenced by artifacts such as image distortion. We represent the anatomical structures based on scale invariant feature transform (SIFT). Likelihood scores calculated using feature-based morphometry is used as the criterion to categorize image features into three classes (healthy, patient and noise). Regional SVMs are trained to classify the three types of image features in different brain regions. Only healthy and patient features are used to predict the disease status of new brain images. An ensemble classifier is built from the regional SVMs to obtain better prediction accuracy. We apply this approach to 3D MR images of Alzheimer's disease, Parkinson's disease and bipolar disorder. The classification accuracy ranges between 70% and 87%. The highly predictive disease-related regions, which represent significant anatomical differences between the healthy and diseased, are shown in heat maps. The common and disease-specific brain regions are identified by comparing the highly predictive regions in each disease. All of the top-ranked regions are supported by literature. Thus, this approach will be a promising tool for assisting automatic diagnosis and advancing mechanism studies of neurological and psychiatric diseases. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Chen, Ye; Tan, Lirong; Lu, Long J.] Cincinnati Childrens Hosp Res Fdn, Div Biomed Informat, Cincinnati, OH 45229 USA.
[Storrs, Judd; Lee, Jing-Huei] Univ Cincinnati, Ctr Imaging Res, Cincinnati, OH 45267 USA.
[Chen, Ye; Mazlack, Lawrence J.] Univ Cincinnati, Sch Elect & Comp Syst, Cincinnati, OH 45221 USA.
[Tan, Lirong; Lu, Long J.] Univ Cincinnati, Sch Comp Sci & Informat, Cincinnati, OH 45221 USA.
[Lee, Jing-Huei] Univ Cincinnati, Sch Energy Environm Biol & Med Engn, Cincinnati, OH 45221 USA.
[Lee, Jing-Huei] Univ Cincinnati, Dept Psychiat & Behav Neurosci, Cincinnati, OH 45219 USA.
[Lu, Long J.] Univ Cincinnati, Coll Med, Dept Environm Hlth, Cincinnati, OH 45267 USA.
RP Lu, LJ (reprint author), Cincinnati Childrens Hosp Res Fdn, Div Biomed Informat, MLC 7024,3333 Burnet Ave, Cincinnati, OH 45229 USA.
EM long.lu@cchmc.org
FU CCHMC CCTST Methodology grant [NIH/NCRR 8UL1TR000077-04]
FX YC and LJL conceived the idea and designed the experiments. YC designed
and implemented the proposed algorithm. JS and JHL provided imaging data
for bipolar disorder. JS performed the image registration for bipolar
disorder. LT performed the image registration for PPMI brain images and
analyzed the disease related brain regions for the three diseases. LJM
offered critical suggestions on the classification algorithms. All the
authors have reviewed and contributed to the text writing. We would also
like to thank Dr. Scott K. Holland for critiquing the manuscript. This
work is supported by CCHMC CCTST Methodology grant awarded to LJL as
part of an Institutional Clinical and Translational Science Award
(NIH/NCRR 8UL1TR000077-04).
CR Ashburner J, 2000, NEUROIMAGE, V11, P805, DOI 10.1006/nimg.2000.0582
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NR 35
TC 0
Z9 0
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 JAN 15
PY 2014
VL 221
BP 22
EP 31
DI 10.1016/j.jneumeth.2013.09.001
PG 10
WC Biochemical Research Methods; Neurosciences
SC Biochemistry & Molecular Biology; Neurosciences & Neurology
GA 282AZ
UT WOS:000329143800004
PM 24041480
ER
PT J
AU Shim, SH
Shim, JS
Min, K
Lee, HS
Park, JE
Park, SH
Hwang, E
Kim, M
AF Shim, Sung Han
Shim, Jae Sun
Min, Kyunghoon
Lee, Hee Song
Park, Ji Eun
Park, Sang Hee
Hwang, Euna
Kim, MinYoung
TI Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and
del(2q)/dup(7q)
SO GENE
LA English
DT Article
DE 2q37.2; 7q36; Chromosomal abnormality; Global developmental delay;
Intellectual disability; Autism
ID MENTAL-RETARDATION; REARRANGEMENTS; SPECTRUM; DELETION; GENETICS;
PHENOTYPES; MONOSOMY; 2Q37.3; 7Q36.3
AB Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Shim, Sung Han] CHA Univ, Coll Life Sci, Dept Biomed Sci, Songnam 463712, Gyeonggi Do, South Korea.
[Shim, Sung Han; Park, Ji Eun; Park, Sang Hee] CHA Univ, CHA Gangnam Med Ctr, Fertil Ctr, Genet Lab, Songnam 463712, Gyeonggi Do, South Korea.
[Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Kim, MinYoung] CHA Univ, CHA Bundang Med Ctr, Dept Rehabil Med, Songnam 463712, Gyeonggi Do, South Korea.
[Hwang, Euna] CHA Univ, CHA Bundang Med Ctr, Dept Plast & Reconstruct Surg, Songnam 463712, Gyeonggi Do, South Korea.
RP Kim, M (reprint author), CHA Univ, CHA Bundang Med Ctr, Dept Rehabil Med, 59 Yatap Ro, Songnam 463712, Gyeonggi Do, South Korea.
EM kmin@cha.ac.kr
FU Basic Science Research Program through the National Research Foundation
of Korea (NRF); Ministry of Education Science and Technology [2012-0132]
FX This research was supported by the Basic Science Research Program
through the National Research Foundation of Korea (NRF) funded by the
Ministry of Education Science and Technology (2012-0132).
CR Abrahams BS, 2008, NAT REV GENET, V9, P341, DOI 10.1038/nrg2346
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NR 30
TC 0
Z9 0
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD JAN 15
PY 2014
VL 534
IS 1
BP 100
EP 106
DI 10.1016/j.gene.2013.09.093
PG 7
WC Genetics & Heredity
SC Genetics & Heredity
GA 268PT
UT WOS:000328183700016
PM 24095776
ER
PT J
AU Driessen, TM
Eisinger, BE
Zhao, C
Stevenson, SA
Saul, MC
Gammie, SC
AF Driessen, Terri M.
Eisinger, Brian E.
Zhao, Changjiu
Stevenson, Sharon A.
Saul, Michael C.
Gammie, Stephen C.
TI Genes showing altered expression in the medial preoptic area in the
highly social maternal phenotype are related to autism and other
disorders with social deficits
SO BMC NEUROSCIENCE
LA English
DT Article
DE Autism; Bipolar disorder; Depression; Schizophrenia; CNS development;
Postpartum females; Medial preoptic area; Modular Single-Set Enrichment
Test (MSET)
ID GAMMA-AMINOBUTYRIC-ACID; SET ENRICHMENT ANALYSIS; NITRIC-OXIDE;
RAT-BRAIN; NEURONAL DIFFERENTIATION; POSTPARTUM DEPRESSION; EMOTION
RECOGNITION; OXYTOCIN RECEPTORS; STRIA TERMINALIS; BIPOLAR DISORDER
AB Background: The mother-child relationship is the most fundamental social bond in mammals, and previous studies indicate that the medial preoptic area (MPOA) contributes to this increase in sociability. It is possible that the same genes that lead to elevated sociability in one condition (the maternal state) might also be dysregulated in some disorders with social deficits (e. g. autism). In this study, we examined whether there was enrichment (greater than chance overlap) for social deficit disorder related genes in MPOA microarray results between virgin and postpartum female mice. We utilized microarrays to assess large scale gene expression changes in the MPOA of virgin and postpartum mice. The Modular Single Set Enrichment Test (MSET) was used to determine if mental health disorder related genes were enriched in significant microarray results. Additional resources, such as ToppCluster, NIH DAVID, and weighted co-expression network analysis (WGCNA) were used to analyze enrichment for specific gene clusters or indirect relationships between significant genes of interest. Finally, a subset of microarray results was validated using quantitative PCR.
Results: Significant postpartum MPOA microarray results were enriched for multiple disorders that include social deficits, including autism, bipolar disorder, depression, and schizophrenia. Together, 98 autism-related genes were identified from the significant microarray results. Further, ToppCluser and NIH DAVID identified a large number of postpartum genes related to ion channel activity and CNS development, and also suggested a role for microRNAs in regulating maternal gene expression. WGCNA identified a module of genes associated with the postpartum phenotype, and identified indirect links between transcription factors and other genes of interest.
Conclusion: The transition to the maternal state involves great CNS plasticity and increased sociability. We identified multiple novel genes that overlap between the postpartum MPOA (high sociability) and mental health disorders with low sociability. Thus, the activity or interactions of the same genes may be altering social behaviors in different directions in different conditions. Maternity also involves elevated risks for disorders, including depression, psychosis, and BPD, so identification of maternal genes common to these disorders may provide insights into the elevated vulnerability of the maternal brain.
C1 [Driessen, Terri M.; Eisinger, Brian E.; Zhao, Changjiu; Stevenson, Sharon A.; Saul, Michael C.; Gammie, Stephen C.] Univ Wisconsin, Dept Zool, Madison, WI 53706 USA.
[Gammie, Stephen C.] Univ Wisconsin, Neurosci Training Program, Madison, WI 53706 USA.
RP Driessen, TM (reprint author), Univ Wisconsin, Dept Zool, Madison, WI 53706 USA.
EM tdriessen@wisc.edu
RI Zhao, Changjiu/M-8263-2014
FU National Science Foundation [IOS-0921706]; National Institutes of Health
[RO1 MH 085642]
FX This work was supported by the National Science Foundation Grant
IOS-0921706 to SCG, and the National Institutes of Health Grant RO1 MH
085642 to SCG. The authors wish to thank Anna Whitlinger for technical
assistance, Wayne Davis and the University of Wisconsin-Madison Gene
Expression Center for microarray technical assistance, and Kate Skogan
and Jeff Alexander for animal care.
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NR 94
TC 4
Z9 4
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1471-2202
J9 BMC NEUROSCI
JI BMC Neurosci.
PD JAN 14
PY 2014
VL 15
AR 11
DI 10.1186/1471-2202-15-11
PG 16
WC Neurosciences
SC Neurosciences & Neurology
GA AF7GJ
UT WOS:000334882000001
PM 24423034
ER
PT J
AU Edmonson, C
Ziats, MN
Rennert, OM
AF Edmonson, Catherine
Ziats, Mark N.
Rennert, Owen M.
TI Altered glial marker expression in autistic post-mortem prefrontal
cortex and cerebellum
SO MOLECULAR AUTISM
LA English
DT Article
DE Astrocyte; Autistic disorder; Gene expression; Glia; Interneuron;
Microglia; Neuron
ID MAJOR HISTOCOMPATIBILITY COMPLEX; FIBRILLARY ACIDIC PROTEIN;
RETT-SYNDROME; MICROGLIAL ACTIVATION; SPECTRUM DISORDER;
BRAIN-DEVELOPMENT; GENE-EXPRESSION; FRONTAL-CORTEX; MOUSE MODEL;
ASTROCYTES
AB Background: The cellular mechanism(s) underlying autism spectrum disorders (ASDs) are not completely understood, but ASDs are thought to ultimately result from disrupted synaptogenesis. However, studies have also shown that glial cell numbers and function are abnormal in post-mortem brain tissue from autistic patients. Direct assessment of glial cells in post-mortem human brain tissue is technically challenging, limiting glial research in human ASD studies. Therefore, we attempted to determine if glial cell-type specific markers may be altered in autistic brain tissue in a manner that is consistent with known cellular findings, such that they could serve as a proxy for glial cell numbers and/or activation patterns.
Methods: We assessed the relative expression of five glial-specific markers and two neuron-specific markers via qRT-PCR. We studied tissue samples from the prefrontal cortex (PFC) and cerebellum of nine post-mortem autistic brain samples and nine neurologically-normal controls. Relative fold-change in gene expression was determined using the Delta Delta C-t method normalized to housekeeping gene beta-actin, with a two-tailed Student's t-test P<0.05 between groups considered as significant.
Results: Both astrocyte- and microglial-specific markers were significantly more highly expressed in autistic PFC as compared to matched controls, while in the cerebellum only astrocyte markers were elevated in autistic samples. In contrast, neuron-specific markers showed significantly lower expression in both the PFC and cerebellum of autistic patients as compared to controls.
Conclusions: These results are in line with previous findings showing increased glial cell numbers and up-regulation of glial cell gene expression in autistic post-mortem brain tissue, particularly in the PFC, as well as decreased number of neurons in both the PFC and cerebellum of autistic patients. The concordance of these results with cell-level studies in post-mortem autistic brain tissue suggests that expression of glial cell-type specific markers may serve as a useful alternative to traditional cellular characterization methods, especially when appropriately-preserved post-mortem tissue is lacking. Additionally, these results demonstrate abnormal glial-specific gene expression in autistic brains, supporting previous studies that have observed altered glial cell numbers or activation patterns in ASDs. Future work should directly assess the correlation between cell-type specific marker levels and cell number and activation patterns.
C1 [Edmonson, Catherine; Ziats, Mark N.; Rennert, Owen M.] NICHHD, NIH, Lab Clin & Dev Gen, Bethesda, MD 20814 USA.
[Edmonson, Catherine] Univ Florida, Coll Med, Gainesville, FL 32603 USA.
[Ziats, Mark N.] Univ Cambridge, Robinson Coll, Cambridge CB3 9AN, England.
[Ziats, Mark N.] Baylor Coll Med MSTP, Houston, TX 77030 USA.
RP Ziats, MN (reprint author), NICHHD, NIH, Lab Clin & Dev Gen, 49 Convent Dr,Bldg 49,Room 2C078, Bethesda, MD 20814 USA.
EM ziatsm@mail.nih.gov
FU Intramural Research Program at the National Institute of Child Health
and Human Development; Baylor College of Medicine MSTP; NIH-University
of Cambridge Biomedical Scholars Program; University of Florida College
of Medicine
FX The Intramural Research Program at the National Institute of Child
Health and Human Development supported this work. MNZ was also supported
by Baylor College of Medicine MSTP and the NIH-University of Cambridge
Biomedical Scholars Program. CE was additionally supported by the
University of Florida College of Medicine. The funders had no role in
study design, data collection and analysis, decision to publish, or
preparation of the manuscript.
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NR 56
TC 4
Z9 4
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 JAN 10
PY 2014
VL 5
AR 3
DI 10.1186/2040-2392-5-3
PG 9
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF8KF
UT WOS:000334963900001
PM 24410870
ER
PT J
AU Sullivan, JC
Tavassoli, T
Armstrong, K
Baron-Cohen, S
Humphrey, A
AF Sullivan, Jillian C.
Tavassoli, Teresa
Armstrong, Kimberly
Baron-Cohen, Simon
Humphrey, Ayla
TI Reliability of self, parental, and researcher measurements of head
circumference
SO MOLECULAR AUTISM
LA English
DT Article
DE Adults; Brain size; Children; Head circumference; Reliability;
Self-measurements; Parental measurements
ID BRAIN GROWTH; AUTISM; ACCURACY; CHILDREN; SIZE
AB Background: The measurement of head circumference (HC) is widely used in clinical and research settings as a proxy of neural growth. Although it could aid data collection, no studies have explored either the reliability of adult self-measurements or parental measurements of young children. This study therefore aimed to examine whether adult self and parental measurement of HC constitute reliable data.
Findings: A total of 57 adults (32 male) were asked to measure their HC twice following written instructions (adult self-measurement). These measures were compared to those of a researcher independently measuring the same participant's HC twice. Additionally, mothers of 25 children (17 male) were also asked to measure their child's HC (parental measure), and again this was compared to researcher measurements of the child's HC. The intraclass correlation coefficient between adult self- and researcher measurement was 0.84 and between parent and researcher measurement was 0.99. The technical error of measurement was also acceptable, within the range of a skilled anthropometrist.
Conclusions: The high degree of agreement between researcher and adult self- measurement/parental measurement of HC demonstrates that these different assessors produce similarly reliable and reproducible data. This suggests adult self- and parental measurements can reliably be used for data collection to enable valid large-scale developmental and clinical studies of HC.
C1 [Sullivan, Jillian C.; Tavassoli, Teresa; Armstrong, Kimberly; Baron-Cohen, Simon; Humphrey, Ayla] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
[Sullivan, Jillian C.] Autism Res Ctr, Cambridge CB2 8AL, England.
RP Sullivan, JC (reprint author), Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England.
EM jillian.sullivan@cantab.net
FU Gates Cambridge Trust; MRC; Wellcome Trust; Autism Research Trust
FX This work was submitted in part fulfilment of the degree of PhD by the
first author, who was supported by the Gates Cambridge Trust. SBC was
supported by the MRC, the Wellcome Trust, and the Autism Research Trust
during the period of this work. This study was conducted in association
with the NIHR CLAHRC for Cambridgeshire and Peterborough NHS Foundation
Trust. The authors thank all the participants who took part. No
financial conflicts of interest or bias are reported.
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NR 19
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 JAN 10
PY 2014
VL 5
AR 2
DI 10.1186/2040-2392-5-2
PG 4
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA AF4UE
UT WOS:000334708900001
PM 24410855
ER
PT J
AU Xu, F
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TI Cytogenomic mapping and bioinformatic mining reveal interacting brain
expressed genes for intellectual disability
SO MOLECULAR CYTOGENETICS
LA English
DT Article
DE Intellectual disability; Critical regions; Brain expressed genes;
Cross-region gene interrelation; Functional network
ID COMPARATIVE GENOMIC HYBRIDIZATION; AUTISM SPECTRUM DISORDERS; COPY
NUMBER VARIATION; MENTAL-RETARDATION; DEVELOPMENTAL DELAY; ARRAY-CGH;
CONGENITAL-ANOMALIES; CLINICAL-APPLICATION; AMERICAN-COLLEGE;
DIAGNOSTIC-TEST
AB Background: Microarray analysis has been used as the first-tier genetic testing to detect chromosomal imbalances and copy number variants (CNVs) for pediatric patients with intellectual and developmental disabilities (ID/DD). To further investigate the candidate genes and underlying dosage-sensitive mechanisms related to ID, cytogenomic mapping of critical regions and bioinformatic mining of candidate brain-expressed genes (BEGs) and their functional interactions were performed. Critical regions of chromosomal imbalances and pathogenic CNVs were mapped by subtracting known benign CNVs from the Databases of Genomic Variants (DGV) and extracting smallest overlap regions with cases from DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). BEGs from these critical regions were revealed by functional annotation using Database for Annotation, Visualization, and Integrated Discovery (DAVID) and by tissue expression pattern from Uniprot. Cross-region interrelations and functional networks of the BEGs were analyzed using Gene Relationships Across Implicated Loci (GRAIL) and Ingenuity Pathway Analysis (IPA).
Results: Of the 1,354 patients analyzed by oligonucleotide array comparative genomic hybridization (aCGH), pathogenic abnormalities were detected in 176 patients including genomic disorders in 66 patients (37.5%), subtelomeric rearrangements in 45 patients (25.6%), interstitial imbalances in 33 patients (18.8%), chromosomal structural rearrangements in 17 patients (9.7%) and aneuploidies in 15 patients (8.5%). Subtractive and extractive mapping defined 82 disjointed critical regions from the detected abnormalities. A total of 461 BEGs was generated from 73 disjointed critical regions. Enrichment of central nervous system specific genes in these regions was noted. The number of BEGs increased with the size of the regions. A list of 108 candidate BEGs with significant cross region interrelation was identified by GRAIL and five significant gene networks involving cell cycle, cell-to-cell signaling, cellular assembly, cell morphology, and gene expression regulations were denoted by IPA.
Conclusions: These results characterized ID related cross-region interrelations and multiple networks of candidate BEGs from the detected genomic imbalances. Further experimental study of these BEGs and their interactions will lead to a better understanding of dosage-sensitive mechanisms and modifying effects of human mental development.
C1 [Xu, Fang; Gallagher, Patrick G.; Xiang, Bixia; Zhao, Hongyu; Li, Peining] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
[Li, Lun; Zhao, Hongyu] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, New Haven, CT 06510 USA.
[Schulz, Vincent P.; Gallagher, Patrick G.] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06510 USA.
[Li, Lun] Huazhong Univ Sci & Technol, Hubei Bioinformat & Mol Imaging Key Lab, Wuhan, Hubei, Peoples R China.
RP Li, PN (reprint author), Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA.
EM peining.li@yale.edu
FU China Scholarship Council
FX We would like to thank Dr. Maurice Mahoney for reviewing the ethical
issues of this project, Kangmo Lu and Krista Sfiridis for their
technical support, and Audrey Meusel for editing and proofreading this
manuscript. Additionally, a fellowship award from the China Scholarship
Council to Lun Li supported part of this work.
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NR 38
TC 2
Z9 2
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1755-8166
J9 MOL CYTOGENET
JI Mol. Cytogenet.
PD JAN 10
PY 2014
VL 7
AR 4
DI 10.1186/1755-8166-7-4
PG 12
WC Genetics & Heredity
SC Genetics & Heredity
GA AB1LP
UT WOS:000331553500001
PM 24410907
ER
PT J
AU Ronchi, VP
Klein, JM
Edwards, DJ
Haas, AL
AF Ronchi, Virginia P.
Klein, Jennifer M.
Edwards, Daniel J.
Haas, Arthur L.
TI The Active Form of E6-associated protein (E6AP)/UBE3A Ubiquitin Ligase
Is an Oligomer
SO JOURNAL OF BIOLOGICAL CHEMISTRY
LA English
DT Article
ID HUMAN-PAPILLOMAVIRUS TYPE-16; AUTISM SPECTRUM DISORDERS;
ANGELMAN-SYNDROME; E6 ONCOPROTEIN; HECT DOMAIN; CERVICAL-CANCER; CHAIN
FORMATION; BINDING DOMAIN; GENE UBE3A; E3 LIGASE
AB Employing I-125-polyubiquitin chain formation as a functional readout of ligase activity, biochemical and biophysical evidence demonstrates that catalytically active E6-associated protein (E6AP)/UBE3A is an oligomer. Based on an extant structure previously discounted as an artifact of crystal packing forces, we propose that the fully active form of E6AP is a trimer, analysis of which reveals a buried surface of 7508 angstrom(2) and radially symmetric interacting residues that are conserved within the Hect (homologous to E6AP C terminus) ligase superfamily. An absolutely conserved interaction between Phe(727) and a hydrophobic pocket present on the adjacent subunit is critical for trimer stabilization because mutation disrupts the oligomer and decreases k(cat) 62-fold but fails to affect E2 similar to ubiquitin binding or subsequent formation of the Hect domain Cys(820) similar to ubiquitin thioester catalytic intermediate. Exogenous N-acetylphenylalanylamide reversibly antagonizes Phe(727)-dependent trimer formation and catalytic activity (K-i = 12 mM), as does a conserved alpha-helical peptide corresponding to residues 474-490 of E6AP isoform 1 (K-i = 22 mu M) reported to bind the hydrophobic pocket of other Hect ligases, presumably blocking Phe(727) intercalation and trimer formation. Conversely, oncogenic human papillomavirus-16/18 E6 protein significantly enhances E6AP catalytic activity by promoting trimer formation (K-activation = 1.5 nM) through the ability of E6 to form homodimers. Recombinant E6 protein additionally rescues the k(cat) defect of the Phe(727) mutation and that of a specific loss-of-function Angelman syndrome mutation that promotes trimer destabilization. The present findings codify otherwise disparate observations regarding the mechanism of E6AP and related Hect ligases in addition to suggesting therapeutic approaches for modulating ligase activity.
C1 [Ronchi, Virginia P.; Klein, Jennifer M.; Edwards, Daniel J.; Haas, Arthur L.] Louisiana State Univ, Dept Biochem & Mol Biol, Hlth Sci Ctr, New Orleans, LA 70112 USA.
[Haas, Arthur L.] Louisiana State Univ, Stanley S Scott Canc Ctr, Hlth Sci Ctr, New Orleans, LA 70112 USA.
RP Haas, AL (reprint author), Louisiana State Univ, Dept Biochem & Mol Biol, Hlth Sci Ctr, 1901 Perdido St, New Orleans, LA 70112 USA.
EM ahaas@lsuhsc.edu
FU National Institutes of Health [GM034009]
FX This work was supported, in whole or in part, by National Institutes of
Health Grant GM034009 (to A. L. H.).
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NR 90
TC 1
Z9 1
PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
PI BETHESDA
PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA
SN 0021-9258
EI 1083-351X
J9 J BIOL CHEM
JI J. Biol. Chem.
PD JAN 10
PY 2014
VL 289
IS 2
BP 1033
EP 1048
DI 10.1074/jbc.M113.517805
PG 16
WC Biochemistry & Molecular Biology
SC Biochemistry & Molecular Biology
GA 301OH
UT WOS:000330541200036
PM 24273172
ER
PT J
AU Cukier, HN
Dueker, ND
Slifer, SH
Lee, JM
Whitehead, PL
Lalanne, E
Leyva, N
Konidari, I
Gentry, RC
Hulme, WF
Van Booven, D
Mayo, V
Hofmann, NK
Schmidt, MA
Martin, ER
Haines, JL
Cuccaro, ML
Gilbert, JR
Pericak-Vance, MA
AF Cukier, Holly N.
Dueker, Nicole D.
Slifer, Susan H.
Lee, Joycelyn M.
Whitehead, Patrice L.
Lalanne, Eminisha
Leyva, Natalia
Konidari, Ioanna
Gentry, Ryan C.
Hulme, William F.
Van Booven, Derek
Mayo, Vera
Hofmann, Natalia K.
Schmidt, Michael A.
Martin, Eden R.
Haines, Jonathan L.
Cuccaro, Michael L.
Gilbert, John R.
Pericak-Vance, Margaret A.
TI Exome sequencing of extended families with autism reveals genes shared
across neurodevelopmental and neuropsychiatric disorders
SO MOLECULAR AUTISM
LA English
DT Article
DE Autism spectrum disorder (ASD); Identical by descent (IBD); Single
nucleotide variant (SNV); Whole exome sequencing
ID DE-NOVO MUTATIONS; COPY NUMBER VARIANTS; SPECTRUM DISORDERS; BIPOLAR
DISORDER; SYNAPSIN-I; SCHIZOPHRENIA; EPILEPSY; PROTEIN; ASSOCIATION;
PATHWAYS
AB Background: Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Despite overwhelming evidence of high heritability, results from genetic studies to date show that ASD etiology is extremely heterogeneous and only a fraction of autism genes have been discovered.
Methods: To help unravel this genetic complexity, we performed whole exome sequencing on 100 ASD individuals from 40 families with multiple distantly related affected individuals. All families contained a minimum of one pair of ASD cousins. Each individual was captured with the Agilent SureSelect Human All Exon kit, sequenced on the Illumina Hiseq 2000, and the resulting data processed and annotated with Burrows-Wheeler Aligner (BWA), Genome Analysis Toolkit (GATK), and SeattleSeq. Genotyping information on each family was utilized in order to determine genomic regions that were identical by descent (IBD). Variants identified by exome sequencing which occurred in IBD regions and present in all affected individuals within each family were then evaluated to determine which may potentially be disease related. Nucleotide alterations that were novel and rare (minor allele frequency, MAF, less than 0.05) and predicted to be detrimental, either by altering amino acids or splicing patterns, were prioritized.
Results: We identified numerous potentially damaging, ASD associated risk variants in genes previously unrelated to autism. A subset of these genes has been implicated in other neurobehavioral disorders including depression (SLIT3), epilepsy (CLCN2, PRICKLE1), intellectual disability (AP4M1), schizophrenia (WDR60), and Tourette syndrome (OFCC1). Additional alterations were found in previously reported autism candidate genes, including three genes with alterations in multiple families (CEP290, CSMD1, FAT1, and STXBP5). Compiling a list of ASD candidate genes from the literature, we determined that variants occurred in ASD candidate genes 1.65 times more frequently than in random genes captured by exome sequencing (P = 8.55 x 10(-5)).
Conclusions: By studying these unique pedigrees, we have identified novel DNA variations related to ASD, demonstrated that exome sequencing in extended families is a powerful tool for ASD candidate gene discovery, and provided further evidence of an underlying genetic component to a wide range of neurodevelopmental and neuropsychiatric diseases.
C1 [Cukier, Holly N.; Dueker, Nicole D.; Slifer, Susan H.; Lee, Joycelyn M.; Whitehead, Patrice L.; Lalanne, Eminisha; Leyva, Natalia; Konidari, Ioanna; Gentry, Ryan C.; Hulme, William F.; Van Booven, Derek; Mayo, Vera; Hofmann, Natalia K.; Schmidt, Michael A.; Martin, Eden R.; Cuccaro, Michael L.; Gilbert, John R.; Pericak-Vance, Margaret A.] Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, Miami, FL 33136 USA.
[Schmidt, Michael A.; Martin, Eden R.; Cuccaro, Michael L.; Gilbert, John R.; Pericak-Vance, Margaret A.] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA.
[Haines, Jonathan L.] Vanderbilt Univ, Ctr Human Genet Res, Nashville, TN 37232 USA.
RP Pericak-Vance, MA (reprint author), Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, 1501 NW 10th Ave,BRB-314 M860, Miami, FL 33136 USA.
EM mpericak@med.miami.edu
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NR 70
TC 6
Z9 6
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 JAN 10
PY 2014
VL 5
AR 1
DI 10.1186/2040-2392-5-1
PG 10
WC Genetics & Heredity; Neurosciences
SC Genetics & Heredity; Neurosciences & Neurology
GA 291OH
UT WOS:000329837500001
PM 24410847
ER
PT J
AU Ndika, JDT
Lusink, V
Beaubrun, C
Kanhai, W
Martinez-Munoz, C
Jakobs, C
Salomons, GS
AF Ndika, Joseph D. T.
Lusink, Vera
Beaubrun, Claudine
Kanhai, Warsha
Martinez-Munoz, Cristina
Jakobs, Cornelis
Salomons, Gajja S.
TI Cloning and characterization of the promoter regions from the parent and
paralogobs creatine transporter genes
SO GENE
LA English
DT Article
DE Creatine transport; Transcriptional regulation; Promoter; Pseudogene
ID LINKED MENTAL-RETARDATION; HUMAN GENOME; DEFICIENCY; 16P11.2; SLC6A8;
XQ28; IDENTIFICATION; ASSIGNMENT; AUTISM; LEVEL
AB Interconversion between phosphocreatine and creatine, catalyzed by creatine kinase is crucial in the supply of ATP to tissues with high energy demand. Creatine's importance has been established by its use as an ergogenic aid in sport, as well as the development of intellectual disability in patients with congenital creatine deficiency. Creatine biosynthesis is complemented by dietary creatine uptake. Intracellular transport of creatine is carried out by a creatine transporter protein (CT1/CRT/CRTR) encoded by the SLC6A8 gene. Most tissues express this gene, with highest levels detected in skeletal muscle and kidney. There are lower levels of the gene detected in colon, brain, heart, testis and prostate. The mechanism(s) by which this regulation occurs is still poorly understood. A duplicated unprocessed pseudogene of SLC6A8-SLC6A10P has been mapped to chromosome 16p11.2 (contains the entire SLC6A8 gene, plus 2293 bp of 5'flanking sequence and its entire 3'UTR). Expression of SLC6A10P has so far only been shown in human testis and brain. It is still unclear as to what is the function of SLC6A10P. In a patient with autism, a chromosomal breakpoint that intersects the 5'flanking region of SLC6A10P was identified; suggesting that SLC6A10P is a non-coding RNA involved in autism. Our aim was to investigate the presence of cis-acting factor(s) that regulate expression of the creatine transporter, as well as to determine if these factors are functionally conserved upstream of the creatine transporter pseudogene.
Via gene-specific PCR, cloning and functional luciferase assays we identified a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types. The corresponding 5'flanking sequence (1050 bp) on the pseudogene also had promoter activity in all 5 cell lines. Surprisingly the pseudogene promoter was stronger than that of its parent gene in 4 of the cell lines tested. To the best of our knowledge, this is the first experimental evidence of a pseudogene with stronger promoter activity than its parental gene. (C) 2013 Elsevier B.V. All rights reserved.
C1 [Ndika, Joseph D. T.; Lusink, Vera; Beaubrun, Claudine; Kanhai, Warsha; Martinez-Munoz, Cristina; Jakobs, Cornelis; Salomons, Gajja S.] Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands.
[Ndika, Joseph D. T.; Salomons, Gajja S.] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands.
[Salomons, Gajja S.] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands.
RP Salomons, GS (reprint author), Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands.
EM g.salomons@vumc.nl
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NR 30
TC 1
Z9 1
PU ELSEVIER SCIENCE BV
PI AMSTERDAM
PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
SN 0378-1119
EI 1879-0038
J9 GENE
JI Gene
PD JAN 10
PY 2014
VL 533
IS 2
BP 488
EP 493
DI 10.1016/j.gene.2013.10.008
PG 6
WC Genetics & Heredity
SC Genetics & Heredity
GA 263SU
UT WOS:000327829100005
PM 24144841
ER
PT J
AU Alabdali, A
Al-Ayadhi, L
El-Ansary, A
AF Alabdali, Altaf
Al-Ayadhi, Laila
El-Ansary, Afaf
TI Association of social and cognitive impairment and biomarkers in autism
spectrum disorders
SO JOURNAL OF NEUROINFLAMMATION
LA English
DT Article
DE Autism spectrum disorders; Childhood autism rating scale;
Interferon-gamma-induced protein-16; Neuroinflammation;
Neurotransmitters; Oxytocin; Social responsiveness scale
ID DOPAMINE-BETA-HYDROXYLASE; PERVASIVE DEVELOPMENTAL DISORDERS; DIAGNOSTIC
INTERVIEW; GABA(A) RECEPTOR; INTERFERON-GAMMA; UP-REGULATION;
SAUDI-ARABIA; PLASMA; SEROTONIN; CHILDREN
AB Objectives: The neurological basis for autism is still not fully understood, and the role of the interaction between neuro-inflammation and neurotransmission impairment needs to be clearer. This study aims to test the possible association between impaired levels of gamma aminobutyric acid (GABA), serotonin, dopamine, oxytocin, and interferon-gamma-induced protein-16 (IFI16) and the severity of social and cognitive dysfunctions in individuals with autism spectrum disorders.
Materials and methods: GABA, serotonin, dopamine, oxytocin, and IFI16 as biochemical parameters related to neurochemistry and inflammation were determined in the plasma of 52 Saudi autistic male patients, categorized as mild-moderate and severe as indicated by their Childhood Autism Rating Scale (CARS) or social responsiveness scale (SRS), and compared to 30 age-and gender-matched control samples.
Results: The data indicated that Saudi patients with autism have remarkably impaired plasma levels of the measured parameters compared to age and gender-matched controls. While serotonin in platelet-free plasma and dopamine did not correlated with the severity in social and cognitive dysfunction, GABA, oxytocin, and IFI16 were remarkably associated with the severity of both tested scores (SRS and CARS).
Conclusions: The relationship between the selected parameters confirms the role of impaired neurochemistry and neuro-inflammation in the etiology of autism spectrum disorders and the possibility of using GABA, oxytocin, and IFI16 as markers of autism severity. Receiver operating characteristic analysis together with predictiveness diagrams proved that the measured parameters could be used as predictive biomarkers of clinical symptoms and provide significant guidance for future therapeutic strategy to re-establish physiological homeostasis.
C1 [Alabdali, Altaf; El-Ansary, Afaf] King Saud Univ, Coll Sci, Dept Biochem, Riyadh 11495, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] King Saud Univ, Autism Res & Treatment Ctr, Riyadh, Saudi Arabia.
[Al-Ayadhi, Laila; El-Ansary, Afaf] King Saud Univ, Shaik AL Amodi Autism Res Chair, Riyadh 99, Saudi Arabia.
[Al-Ayadhi, Laila] King Saud Univ, Fac Med, Dept Physiol, Riyadh 29, Saudi Arabia.
[El-Ansary, Afaf] Natl Res Ctr, Med Chem Dept, Dokki 12622, Guiza, Egypt.
RP El-Ansary, A (reprint author), King Saud Univ, Coll Sci, Dept Biochem, POB 22452, Riyadh 11495, Saudi Arabia.
EM elansary@ksu.edu.sa
FU research center of the center for female scientific and medical colleges
in King Saud University; King Abdul-Aziz City for Science and Technology
(KACST)
FX This research project was supported by a grant from the research center
of the center for female scientific and medical colleges in King Saud
University. The authors extend their appreciation to King Abdul-Aziz
City for Science and Technology (KACST) for co-funding this study.
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NR 73
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 JAN 8
PY 2014
VL 11
AR 4
DI 10.1186/1742-2094-11-4
PG 14
WC Immunology; Neurosciences
SC Immunology; Neurosciences & Neurology
GA AD4HN
UT WOS:000333209500002
PM 24400970
ER
PT J
AU He, Q
Nomura, T
Xu, J
Contractor, A
AF He, Qionger
Nomura, Toshihiro
Xu, Jian
Contractor, Anis
TI The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
ID MOUSE MODEL; SOMATOSENSORY CORTEX; BARREL CORTEX; AUTISM; EXPRESSION;
RECEPTOR; CIRCUIT; DYSFUNCTION; INHIBITION; PLASTICITY
AB Delays in synaptic and neuronal development in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disorder that causes intellectual disability and sensory deficits and is the most common known cause of autism. Previous studies have demonstrated that the normal progression of plasticity and synaptic refinement during the critical period is altered in the cortex of fragile X mice. Although the disruptions in excitatory synapses are well documented in fragile X, there is less known about inhibitory neurotransmission during the critical period. GABAergic transmission plays a crucial trophic role in cortical development through its early depolarizing action. At the end of cortical critical period, response properties of GABA transform into their mature hyperpolarizing type due to developmental changes in intracellular chloride homeostasis. We found that the timing of the switch from depolarizing to hyperpolarizing GABA is delayed in the cortex of fragile X mice and there is a concurrent alteration in the expression of the neuronal chloride cotransporter NKCC1 that promotes the accumulation of intracellular chloride. Disruption of the trophic effects of GABA during cortical development could contribute to the altered trajectory of synaptic maturation in fragile X syndrome.
C1 [He, Qionger; Nomura, Toshihiro; Xu, Jian; Contractor, Anis] Northwestern Univ, Feinberg Sch Med, Dept Physiol, Chicago, IL 60611 USA.
[Nomura, Toshihiro] Keio Univ, Sch Med, Dept Pediat, Shinjuku Ku, Tokyo 1608582, Japan.
[Nomura, Toshihiro] Keio Univ, Sch Med, Dept Physiol, Shinjuku Ku, Tokyo 1608582, Japan.
[Contractor, Anis] Northwestern Univ, Weinberg Coll Arts & Sci, Dept Neurobiol, Evanston, IL 60208 USA.
RP Contractor, A (reprint author), Northwestern Univ, Feinberg Sch Med, Dept Physiol, 303 E Chicago Ave, Chicago, IL 60611 USA.
EM a-contractor@northwestern.edu
FU Simons Foundation Autism Research Initiative (SFARI Explorer Award);
FRAXA; Japan Society for the Promotion of Science Strategic Young
Researcher Overseas Visits Program for Accelerating Brain Circulation;
Nakayama Foundation
FX This work was supported by the Simons Foundation Autism Research
Initiative (SFARI Explorer Award to A.C.), FRAXA (postdoctoral
fellowship to Q.H.), the Japan Society for the Promotion of Science
Strategic Young Researcher Overseas Visits Program for Accelerating
Brain Circulation (to T.N.), and the Nakayama Foundation (fellowship to
T.N.).
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NR 22
TC 12
Z9 12
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 JAN 8
PY 2014
VL 34
IS 2
BP 446
EP 450
DI 10.1523/JNEUROSCI.4447-13.2014
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA 290XH
UT WOS:000329791300011
PM 24403144
ER
PT J
AU Vangeneugden, J
Peelen, MV
Tadin, D
Battelli, L
AF Vangeneugden, Joris
Peelen, Marius V.
Tadin, Duje
Battelli, Lorella
TI Distinct Neural Mechanisms for Body Form and Body Motion Discriminations
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE biological motion; extrastriate cortex; form vs motion; functional
imaging; transcranial magnetic imaging; visual processing
ID AUTISM SPECTRUM DISORDERS; BIOLOGICAL MOTION; BRAIN-AREAS;
VISUAL-PERCEPTION; OCCIPITOTEMPORAL CORTEX; MAGNETIC STIMULATION;
NONHUMAN-PRIMATES; PATTERN-ANALYSIS; TEMPORAL CORTEX; FUSIFORM GYRUS
AB Actions can be understood based on form cues (e. g., static body posture) as well as motion cues (e. g., gait patterns). A fundamental debate centers on the question of whether the functional and neural mechanisms processing these two types of cues are dissociable. Here, using fMRI, psychophysics, and transcranial magnetic stimulation (TMS), all within the same human participants, we show that mechanisms underlying body form and body motion processing are functionally and neurally distinct. Multivoxel fMRI activity patterns in the extrastriate body area (EBA), but not in the posterior superior temporal sulcus (pSTS), carried cue invariant information about the body form of an acting human. Conversely, multivoxel patterns in pSTS, but not in EBA, carried information about the body motion of the same actor. In a psychophysical experiment, we selectively impaired body form and body motion discriminations by manipulating different visual cues: misaligning the ellipses that made up a dynamic walker stimulus selectively disrupted body form discriminations, while varying the presentation duration of the walker selectively affected body motion discriminations. Finally, a TMS experiment revealed causal evidence for a double-dissociation between neural mechanisms underlying body form and body motion discriminations: TMS over EBA selectively disrupted body form discrimination, whereas TMS over pSTS selectively disrupted body motion discrimination. Together, these findings reveal complementing but dissociable functions of EBA and pSTS during action perception. They provide constraints for theoretical and computational models of action perception by showing that action perception involves at least two parallel pathways that separately contribute to the understanding of others' behavior.
C1 [Vangeneugden, Joris; Battelli, Lorella] Ist Italiano Tecnol, Ctr Neurosci & Cognit Syst UniTn, I-38068 Rovereto, Italy.
[Peelen, Marius V.] Univ Trento, Ctr Mind Brain Sci, I-38068 Rovereto, Italy.
[Tadin, Duje] Univ Rochester, Dept Brain & Cognit Sci, Ctr Visual Sci, Rochester, NY 14627 USA.
[Tadin, Duje] Univ Rochester, Dept Ophthalmol, Rochester, NY 14627 USA.
[Battelli, Lorella] Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Berenson Allen Ctr Noninvas Brain Stimulat, Boston, MA 02215 USA.
RP Vangeneugden, J (reprint author), Netherlands Inst Neurosci, Dept Cort Struct & Funct, Meibergdreef 47, NL-1105 BA Amsterdam, Netherlands.
EM j.vangeneugden@nin.knaw.nl
RI Peelen, Marius/D-1780-2010
OI Peelen, Marius/0000-0002-4026-7303
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NR 66
TC 5
Z9 5
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 JAN 8
PY 2014
VL 34
IS 2
BP 574
EP 585
DI 10.1523/JNEUROSCI.4032-13.2014
PG 12
WC Neurosciences
SC Neurosciences & Neurology
GA 290XH
UT WOS:000329791300023
PM 24403156
ER
PT J
AU Felix-Ortiz, AC
Tye, KM
AF Felix-Ortiz, Ada C.
Tye, Kay M.
TI Amygdala Inputs to the Ventral Hippocampus Bidirectionally Modulate
Social Behavior
SO JOURNAL OF NEUROSCIENCE
LA English
DT Article
DE amygdala; ChR2; hippocampus; NpHR; optogenetics; social
ID BASOLATERAL AMYGDALA; NONHUMAN-PRIMATES; ANXIETY; LESIONS; RATS;
OXYTOCIN; PROJECTIONS; RECEPTORS; DEFICITS; GABA(A)
AB Impairments in social interaction represent a core symptom of a number of psychiatric disease states, including autism, schizophrenia, depression, and anxiety. Although the amygdala has long been linked to social interaction, little is known about the functional role of connections between the amygdala and downstream regions in noncompetitive social behavior. In the present study, we used optogenetic and pharmacological tools in mice to study the role of projections from the basolateral complex of the amygdala (BLA) to the ventral hippocampus (vHPC) in two social interaction tests: the resident-juvenile-intruder home-cage test and the three chamber sociability test. BLA pyramidal neurons were transduced using adeno-associated viral vectors (AAV5) carrying either channelrhodopsin-2 (ChR2) or halorhodopsin (NpHR), under the control of the CaMKII alpha promoter to allow for optical excitation or inhibition of amygdala axon terminals. Optical fibers were chronically implanted to selectively manipulate BLA terminals in the vHPC. NpHR-mediated inhibition of BLA-vHPC projections significantly increased social interaction in the resident-juvenile intruder home-cage test as shown by increased intruder exploration. In contrast, ChR2-mediated activation of BLA-vHPC projections significantly reduced social behaviors as shown in the resident-juvenile intruder procedure as seen by decreased time exploring the intruder and in the three chamber sociability test by decreased time spent in the social zone. These results indicate that BLA inputs to the vHPC are capable of modulating social behaviors in a bidirectional manner.
C1 [Felix-Ortiz, Ada C.; Tye, Kay M.] MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, Cambridge, MA 02139 USA.
RP Tye, KM (reprint author), MIT, Dept Brain & Cognit Sci, Picower Inst Learning & Memory, 77 Massachusetts Ave,Bldg Room 46-6263, Cambridge, MA 02139 USA.
EM kaytye@mit.edu
FU Whitehall Foundation, Klingenstein Foundation, Picower Institute
Innovation Funds, Whitehead Career Development Professorship; New
Innovator Award [1DP2DK102256-01]
FX This work was supported by the Whitehall Foundation, Klingenstein
Foundation, Picower Institute Innovation Funds, Whitehead Career
Development Professorship, and the New Innovator Award
(1DP2DK102256-01). We thank Anthony Burgos-Robles, Neha D. Bhagat, and
Romy Wichmann for technical advice; Gillian A. Matthews, a Simons Center
for the Social Brain postdoctoral fellow, for useful comments which have
greatly improved the manuscript; and the entire Tye laboratory for
helpful discussion.
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NR 39
TC 19
Z9 19
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 JAN 8
PY 2014
VL 34
IS 2
BP 586
EP 595
DI 10.1523/JNEUROSCI.4257-13.2014
PG 10
WC Neurosciences
SC Neurosciences & Neurology
GA 290XH
UT WOS:000329791300024
PM 24403157
ER
PT J
AU Back, E
Jordan, TR
AF Back, Elisa
Jordan, Timothy R.
TI Revealing Variations in Perception of Mental States from Dynamic Facial
Expressions: A Cautionary Note
SO PLOS ONE
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; NORMAL ADULTS; RECOGNITION;
EMOTION; MIND; FACES; EYES; INDIVIDUALS; LANGUAGE
AB Although a great deal of research has been conducted on the recognition of basic facial emotions (e.g., anger, happiness, sadness), much less research has been carried out on the more subtle facial expressions of an individual's mental state (e.g., anxiety, disinterest, relief). Of particular concern is that these mental state expressions provide a crucial source of communication in everyday life but little is known about the accuracy with which natural dynamic facial expressions of mental states are identified and, in particular, the variability in mental state perception that is produced. Here we report the findings of two studies that investigated the accuracy and variability with which dynamic facial expressions of mental states were identified by participants. Both studies used stimuli carefully constructed using procedures adopted in previous research, and free-report (Study 1) and forced-choice (Study 2) measures of response accuracy and variability. The findings of both studies showed levels of response accuracy that were accompanied by substantial variation in the labels assigned by observers to each mental state. Thus, when mental states are identified from facial expressions in experiments, the identities attached to these expressions appear to vary considerably across individuals. This variability raises important issues for understanding the identification of mental states in everyday situations and for the use of responses in facial expression research.
C1 [Back, Elisa] Kingston Univ London, Dept Psychol, Kingston Upon Thames, Surrey, England.
[Jordan, Timothy R.] Zayed Univ, Dept Psychol, Dubai, U Arab Emirates.
RP Back, E (reprint author), Kingston Univ London, Dept Psychol, Kingston Upon Thames, Surrey, England.
EM e.back@kingston.ac.uk
CR [Anonymous], 2001, QUICKTIME PRO VERS 5
[Anonymous], 2001, FIN CUT PRO VERS 3 1
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NR 25
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 JAN 8
PY 2014
VL 9
IS 1
AR e84395
DI 10.1371/journal.pone.0084395
PG 5
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 291WL
UT WOS:000329862500123
PM 24416226
ER
PT J
AU Li, JM
Lu, CL
Cheng, MC
Luu, SU
Hsu, SH
Hu, TM
Tsai, HY
Chen, CH
AF Li, Jun-Ming
Lu, Chao-Lin
Cheng, Min-Chih
Luu, Sy-Ueng
Hsu, Shih-Hsin
Hu, Tsung-Ming
Tsai, Hsin-Yao
Chen, Chia-Hsiang
TI Role of the DLGAP2 Gene Encoding the SAP90/PSD-95-Associated Protein 2
in Schizophrenia
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; MULTIPLE RARE ALLELES; POSTSYNAPTIC DENSITY;
CANDIDATE GENE; PSYCHOSIS; FAMILY; MODEL; TWIN; OCD
AB Aberrant synaptic dysfunction is implicated in the pathogenesis of schizophrenia. The DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 (SAPAP2) located at the post-synaptic density of neuronal cells is involved in the neuronal synaptic function. This study aimed to investigate whether the DLGAP2 gene is associated with schizophrenia. We resequenced the putative promoter region and all the exons of the DLGAP2 gene in 523 patients with schizophrenia and 596 non-psychotic controls from Taiwan and conducted a case-control association analysis. We identified 19 known SNPs in this sample. Association analysis of 9 SNPs with minor allele frequency greater than 5% showed no association with schizophrenia. However, we found a haplotype (CCACCAACT) significantly associated with schizophrenia (odds ratio: 2.5, p<0.001). We also detected 16 missense mutations and 1 amino acid-insertion mutation in this sample. Bioinformatic analysis showed some of these mutations were damaging or pathological to the protein function, but we did not find increased burden of these mutations in the patient group. Notably, we identified 5 private rare variants in 5 unrelated patients, respectively, including c.269+9C>T, c.269+13C>T, c.269+47C>T, c.269+55C>T at intron 1 and c.-232A>G at untranslated exon 2 of the DLGAP2 gene. These rare variants were not detected in 559 control subjects. Further reporter gene assay of these rare variants except c.-269+13C>T showed significantly elevated promoter activity than the wild type, suggesting increased DLGAP2 gene expression may contribute to the pathogenesis of schizophrenia. Our results indicate that DLGAP2 is a susceptible gene of schizophrenia.
C1 [Li, Jun-Ming; Luu, Sy-Ueng] Taoyuan Armed Forces Gen Hosp, Dept Psychiat, Tao Yuan, Taiwan.
[Lu, Chao-Lin] Hualien Armed Forces Gen Hosp, Dept Psychiat, Hualien, Taiwan.
[Cheng, Min-Chih; Hsu, Shih-Hsin; Hu, Tsung-Ming; Tsai, Hsin-Yao] Taipei Vet Gen Hosp, Yuli Branch, Yuli Mental Hlth Res Ctr, Dept Psychiat, Hualien, Taiwan.
[Chen, Chia-Hsiang] Chang Gung Mem Hosp Linkou, Dept Psychiat, Tao Yuan, Taiwan.
[Chen, Chia-Hsiang] Chang Gung Univ, Sch Med, Tao Yuan, Taiwan.
RP Cheng, MC (reprint author), Taipei Vet Gen Hosp, Yuli Branch, Yuli Mental Hlth Res Ctr, Dept Psychiat, Hualien, Taiwan.
EM cmc@vhyl.gov.tw; cchen3801@gmail.com
FU Taoyuan Armed Forces General Hospital; Hualien Armed Forces General
Hospital in Taiwan
FX Funding for this study was provided by the Taoyuan Armed Forces General
Hospital, and the Hualien Armed Forces General Hospital in Taiwan. 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 30
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 JAN 8
PY 2014
VL 9
IS 1
AR e85373
DI 10.1371/journal.pone.0085373
PG 8
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 291WL
UT WOS:000329862500243
PM 24416398
ER
PT J
AU Rose, S
Frye, RE
Slattery, J
Wynne, R
Tippett, M
Pavliv, O
Melnyk, S
James, SJ
AF Rose, Shannon
Frye, Richard E.
Slattery, John
Wynne, Rebecca
Tippett, Marie
Pavliv, Oleksandra
Melnyk, Stepan
James, S. Jill
TI Oxidative Stress Induces Mitochondrial Dysfunction in a Subset of Autism
Lymphoblastoid Cell Lines in a Well-Matched Case Control Cohort
SO PLOS ONE
LA English
DT Article
ID SPARE RESPIRATORY CAPACITY; NECROSIS-FACTOR-ALPHA; COULOMETRIC
ELECTROCHEMICAL DETECTION; COMPLEX-I; SPECTRUM DISORDERS;
PARKINSONS-DISEASE; METHYL MERCURY; CYTOCHROME-C; CHILDREN; GLUTATHIONE
AB There is increasing recognition that mitochondrial dysfunction is associated with the autism spectrum disorders. However, little attention has been given to the etiology of mitochondrial dysfunction or how mitochondrial abnormalities might interact with other physiological disturbances associated with autism, such as oxidative stress. In the current study we used respirometry to examine reserve capacity, a measure of the mitochondrial ability to respond to physiological stress, in lymphoblastoid cell lines (LCLs) derived from children with autistic disorder (AD) as well as age and gender-matched control LCLs. We demonstrate, for the first time, that LCLs derived from children with AD have an abnormal mitochondrial reserve capacity before and after exposure to increasingly higher concentrations of 2,3-dimethoxy-1,4-napthoquinone (DMNQ), an agent that increases intracellular reactive oxygen species (ROS). Specifically, the AD LCLs exhibit a higher reserve capacity at baseline and a sharper depletion of reserve capacity when ROS exposure is increased, as compared to control LCLs. Detailed investigation indicated that reserve capacity abnormalities seen in AD LCLs were the result of higher ATP-linked respiration and maximal respiratory capacity at baseline combined with a marked increase in proton leak respiration as ROS was increased. We further demonstrate that these reserve capacity abnormalities are driven by a subgroup of eight (32%) of 25 AD LCLs. Additional investigation of this subgroup of AD LCLs with reserve capacity abnormalities revealed that it demonstrated a greater reliance on glycolysis and on uncoupling protein 2 to regulate oxidative stress at the inner mitochondria membrane. This study suggests that a significant subgroup of AD children may have alterations in mitochondrial function which could render them more vulnerable to a pro-oxidant microenvironment derived from intrinsic and extrinsic sources of ROS such as immune activation and pro-oxidant environmental toxicants. These findings are consistent with the notion that AD is caused by a combination of genetic and environmental factors.
C1 [Rose, Shannon; Frye, Richard E.; Slattery, John; Wynne, Rebecca; Tippett, Marie; Pavliv, Oleksandra; Melnyk, Stepan; James, S. Jill] Arkansas Childrens Hosp, Res Inst, Dept Pediat, Little Rock, AR 72202 USA.
RP Frye, RE (reprint author), Arkansas Childrens Hosp, Res Inst, Dept Pediat, 800 Marshall St, Little Rock, AR 72202 USA.
EM REFrye@uams.edu
FU National Institute for Child Health and Development; Arkansas
Biosciences Institute; Jane Botsford Johnson Foundation
FX This research was funded by the National Institute for Child Health and
Development (SJJ), the Arkansas Biosciences Institute (REF, SJJ), and
the Jane Botsford Johnson Foundation (REF). 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 59
TC 8
Z9 8
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 JAN 8
PY 2014
VL 9
IS 1
AR e85436
DI 10.1371/journal.pone.0085436
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 291WL
UT WOS:000329862500249
PM 24416410
ER
PT J
AU van Rijn, S
Barendse, M
van Goozen, S
Swaab, H
AF van Rijn, Sophie
Barendse, Marjolein
van Goozen, Stephanie
Swaab, Hanna
TI Social Attention, Affective Arousal and Empathy in Men with Klinefelter
Syndrome (47,XXY): Evidence from Eyetracking and Skin Conductance
SO PLOS ONE
LA English
DT Article
ID AUTISM SPECTRUM DISORDER; EMOTION REGULATION ABILITIES; MALE BRAIN
THEORY; ASPERGERS-SYNDROME; FIXATION PATTERNS; FACE RECOGNITION;
CHILDREN; SCHIZOPHRENIA; INTELLIGENCE; ALEXITHYMIA
AB Individuals with an extra X chromosome (Klinefelter syndrome) are at risk for problems in social functioning and have an increased vulnerability for autism traits. In the search for underlying mechanisms driving this increased risk, this study focused on social attention, affective arousal and empathy. Seventeen adults with XXY and 20 non-clinical controls participated in this study. Eyetracking was used to investigate social attention, as expressed in visual scanning patterns in response to the viewing of empathy evoking video clips. Skin conductance levels, reflecting affective arousal, were recorded continuously during the clips as well. Empathic skills, i.e. participants' understanding of own and others' emotions in response to the clips was also assessed. Results showed reduced empathic understanding, decreased visual fixation to the eye region, but increased affective arousal in individuals with Klinefelter syndrome. We conclude that individuals with XXY tend to avoid the eye region. Considering the increased affective arousal, we speculate that this attentional deployment strategy may not be sufficient to successfully downregulate affective hyper-responsivity. As increased affective arousal was related to reduced empathic ability, we hypothesize that own affective responses to social cues play an important role in difficulties in understanding the feelings and intentions of others. This knowledge may help in the identification of risk factors for psychopathology and targets for treatment.
C1 [van Rijn, Sophie; Barendse, Marjolein; van Goozen, Stephanie; Swaab, Hanna] Leiden Univ, Leiden, Netherlands.
[van Rijn, Sophie; Swaab, Hanna] Leiden Inst Brain & Cognit, Leiden, Netherlands.
[van Goozen, Stephanie] Cardiff Univ, Sch Psychol, Cardiff CF10 3AX, S Glam, Wales.
RP van Rijn, S (reprint author), Leiden Univ, Leiden, Netherlands.
EM srijn@fsw.leidenuniv.nl
FU Netherlands Organization for Scientific Research [016.095.060]
FX This work was supported by a Veni grant (grant number 016.095.060 to
SVR) from the Netherlands Organization for Scientific Research
(www.NWO.nl). The funders had no role in study design, data collection
and analysis, decision to publish, or preparation of the manuscript.
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Wechsler D, 1997, WECHSLER ADULT INTEL, V3rd
Zechner U, 2001, TRENDS GENET, V17, P697, DOI 10.1016/S0168-9525(01)02446-5
NR 77
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 JAN 8
PY 2014
VL 9
IS 1
AR e84721
DI 10.1371/journal.pone.0084721
PG 9
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 291WL
UT WOS:000329862500155
PM 24416272
ER
PT J
AU Gong, ZL
Luo, CM
Wang, L
Shen, L
Wei, F
Tong, RJ
Liu, Y
AF Gong, Zi-Li
Luo, Chun-Mei
Wang, Li
Shen, Lin
Wei, Fei
Tong, Rong-Jong
Liu, Yong
TI Serum 25-hydroxyvitamin D levels in Chinese children with autism
spectrum disorders
SO NEUROREPORT
LA English
DT Article
DE autism spectrum disorders; Chinese; 25-hydroxyvitamin D; severity
ID VITAMIN-D DEFICIENCY; 1,25-DIHYDROXYVITAMIN D-3; RAT; BRAIN; PREVALENCE;
EXPRESSION; DISEASE
AB In recent years, increasing evidence has shown that children with autism spectrum disorders (ASDs) have lower levels of 25-hydroxyvitamin D [25(OH) D] relative to healthy controls. The purpose of this study was to evaluate the serum 25(OH) D levels in Chinese children with ASD. From January 2012 to December 2012, consecutive patients with ASD admitted to the Department of Neurology were identified. Clinical information was collected. Serum levels of 25(OH) D were measured at baseline. ASD severity was assessed at admission using the Childhood Autism Rating Scale total score. The results indicated that the mean serum 25(OH) D levels were significantly lower in autistic children as compared with normal cases (P=0.002). There was a significant negative relationship between circulating serum 25(OH) D levels and the severity of autism evaluated according to Childhood Autism Rating Scale Scores (P=0.000), after adjustment for the possible covariates such as age, sex, BMI, serum levels of calcium, phosphate, and magnesium, and seasons. After adjusting for all other possible covariates, 25(OH) D levels that remained can be seen as an independent predictor of ASD with an adjusted odds ratio of 1.23 (95% confidence interval, 1.10-1.37). These results indicate that lower 25(OH) D levels may be independently associated with severity of ASD among Chinese patients, and lower serum 25(OH) D levels could be considered as an independent risk factor for ASD. (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.
C1 [Gong, Zi-Li; Wang, Li; Shen, Lin; Wei, Fei; Liu, Yong] Third Mil Med Univ, Xin Qiao Hosp, Dept Neurol, Chongqing, Peoples R China.
[Luo, Chun-Mei] Third Mil Med Univ, Xin Qiao Hosp, Dept Orthoped, Chongqing, Peoples R China.
[Tong, Rong-Jong] Beijing Children Hosp, Dept Pediat, Beijing, Peoples R China.
RP Liu, Y (reprint author), Third Mil Med Univ, Xin Qiao Hosp, Dept Neurol, Chongqing, Peoples R China.
EM yjt5489@163.com
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NR 33
TC 9
Z9 9
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 JAN 8
PY 2014
VL 25
IS 1
BP 23
EP 27
DI 10.1097/WNR.0000000000000034
PG 5
WC Neurosciences
SC Neurosciences & Neurology
GA 263CY
UT WOS:000327785400005
PM 24089013
ER
PT J
AU Surace, C
Berardinelli, F
Masotti, A
Roberti, MC
Da Sacco, L
D'Elia, G
Sirleto, P
Digilio, MC
Cusmai, R
Grotta, S
Petrocchi, S
El Hachem, M
Pisaneschi, E
Ciocca, L
Russo, S
Lepri, FR
Sgura, A
Angioni, A
AF Surace, Cecilia
Berardinelli, Francesco
Masotti, Andrea
Roberti, Maria Cristina
Da Sacco, Letizia
D'Elia, Gemma
Sirleto, Pietro
Digilio, Maria Cristina
Cusmai, Raffaella
Grotta, Simona
Petrocchi, Stefano
El Hachem, May
Pisaneschi, Elisa
Ciocca, Laura
Russo, Serena
Lepri, Francesca Romana
Sgura, Antonella
Angioni, Adriano
TI Telomere shortening and telomere position effect in mild ring 17
syndrome
SO EPIGENETICS & CHROMATIN
LA English
DT Article
DE Genetic syndrome; Telomere position effect; Ring 17 chromosome; Telomere
shortening
ID SUBTELOMERIC SEQUENCES; CHROMOSOME-17; BREAKPOINTS; AUTISM
AB Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations.
Results: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family.
Conclusions: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.
C1 [Surace, Cecilia; Roberti, Maria Cristina; D'Elia, Gemma; Sirleto, Pietro; Grotta, Simona; Petrocchi, Stefano; Pisaneschi, Elisa; Ciocca, Laura; Russo, Serena; Lepri, Francesca Romana; Angioni, Adriano] Bambino Gesu Pediat Hosp, IRCCS, Cytogenet & Mol Genet Unit, I-00165 Rome, Italy.
[Berardinelli, Francesco; Sgura, Antonella] Univ Roma Tre, Dept Biol, Rome, Italy.
[Masotti, Andrea; Da Sacco, Letizia] Bambino Gesu Pediat Hosp, IRCCS, Gene Express Microarrays Lab, I-00165 Rome, Italy.
[Digilio, Maria Cristina] Bambino Gesu Pediat Hosp, IRCCS, Med Genet Unit, I-00165 Rome, Italy.
[Cusmai, Raffaella] Bambino Gesu Pediat Hosp, IRCCS, Neurol Unit, I-00165 Rome, Italy.
[El Hachem, May] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, I-00165 Rome, Italy.
RP Surace, C (reprint author), Bambino Gesu Pediat Hosp, IRCCS, Cytogenet & Mol Genet Unit, Piazza S Onofrio 4, I-00165 Rome, Italy.
EM cecilia.surace@opbg.net
RI angioni, adriano/G-1160-2014; sirleto, pietro/G-3902-2014; Da Sacco,
Letizia/F-8211-2011; Masotti, Andrea/D-5306-2009
OI sirleto, pietro/0000-0001-5292-3315; Masotti, Andrea/0000-0002-2511-5088
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NR 22
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1756-8935
J9 EPIGENET CHROMATIN
JI Epigenetics Chromatin
PD JAN 7
PY 2014
VL 7
AR 1
DI 10.1186/1756-8935-7-1
PG 9
WC Genetics & Heredity
SC Genetics & Heredity
GA 294UB
UT WOS:000330071700001
PM 24393457
ER
PT J
AU Ionita-Laza, I
Xu, B
Makarov, V
Buxbaum, JD
Roos, JL
Gogos, JA
Karayiorgou, M
AF Ionita-Laza, Iuliana
Xu, Bin
Makarov, Vlad
Buxbaum, Joseph D.
Roos, J. Louw
Gogos, Joseph A.
Karayiorgou, Maria
TI Scan statistic-based analysis of exome sequencing data identifies FAN1
at 15q13.3 as a susceptibility gene for schizophrenia and autism
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
ID DNA-DAMAGE RESPONSE; FANCONI-ANEMIA; KIDNEY FAILURE; REPAIR;
ASSOCIATION; DISORDERS; MUTATIONS; NUCLEASE; VARIANT; KIAA1018/FAN1
AB We used a family-based cluster detection approach designed to localize significant rare disease-risk variants clusters within a region of interest to systematically search for schizophrenia (SCZ) susceptibility genes within 49 genomic loci previously implicated by de novo copy number variants. Using two independent whole-exome sequencing family datasets and a follow-up autism spectrum disorder (ASD) case/control whole-exome sequencing dataset, we identified variants in one gene, Fanconi-associated nuclease 1 (FAN1), as being associated with both SCZ and ASD. FAN1 is located in a region on chromosome 15q13.3 implicated by a recurrent copy number variant, which predisposes to an array of psychiatric and neurodevelopmental phenotypes. In both SCZ and ASD datasets, rare nonsynonymous risk variants cluster significantly in affected individuals within a 20-kb window that spans several key functional domains of the gene. Our finding suggests that FAN1 is a key driver in the 15q13.3 locus for the associated psychiatric and neurodevelopmental phenotypes. FAN1 encodes a DNA repair enzyme, thus implicating abnormalities in DNA repair in the susceptibility to SCZ or ASD.
C1 [Ionita-Laza, Iuliana; Makarov, Vlad] Columbia Univ, Dept Biostat, New York, NY 10032 USA.
[Xu, Bin; Karayiorgou, Maria] Columbia Univ, Dept Psychiat, New York, NY 10032 USA.
[Gogos, Joseph A.] Columbia Univ, Dept Neurosci, New York, NY 10032 USA.
[Gogos, Joseph A.] Columbia Univ, Dept Physiol, New York, NY 10032 USA.
[Gogos, Joseph A.] Columbia Univ, Dept Cellular Biophys, New York, NY 10032 USA.
[Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA.
[Roos, J. Louw] Weskoppies Hosp, ZA-0001 Pretoria, South Africa.
RP Ionita-Laza, I (reprint author), Columbia Univ, Dept Biostat, New York, NY 10032 USA.
EM ii2135@columbia.edu
FU National Science Foundation [DMS-1100279]; National Institutes of Health
[R01MH095797, R01MH61399]
FX We thank the families who contributed to the original studies that
generated the data analyzed here. We were supported by National Science
Foundation Grant DMS-1100279 and National Institutes of Health Grants
R01MH095797 (to I.I.-L.) and R01MH61399 (to M.K.).
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NR 40
TC 10
Z9 10
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 JAN 7
PY 2014
VL 111
IS 1
BP 343
EP 348
DI 10.1073/pnas.1309475110
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 284VY
UT WOS:000329350700087
PM 24344280
ER
PT J
AU McLysaght, A
Makino, T
Grayton, HM
Tropeano, M
Mitchell, KJ
Vassos, E
Collier, DA
AF McLysaght, Aoife
Makino, Takashi
Grayton, Hannah M.
Tropeano, Maria
Mitchell, Kevin J.
Vassos, Evangelos
Collier, David A.
TI Ohnologs are overrepresented in pathogenic copy number mutations
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE microdeletion; microduplication; neurodevelopmental; evolution
ID WHOLE-GENOME DUPLICATION; CARDIO-FACIAL SYNDROME; GENE DOSAGE BALANCE;
MICRODELETION SYNDROME; STRUCTURAL VARIATION; RECURRENT MICRODELETIONS;
DEVELOPMENTAL DELAY; INCREASE RISK; SCHIZOPHRENIA; VERTEBRATE
AB A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity may derive from dosage sensitivity of one or more genes contained within the CNV locus. To understand pathophysiology, the specific disease-causing gene(s) within each CNV need to be identified. In the present study, we test the hypothesis that ohnologs (genes retained after ancestral whole-genome duplication events, which are frequently dosage sensitive) are overrepresented in pathogenic CNVs. We selected three sets of genes implicated in copy number pathogenicity: (i) genes mapping within rare disease-associated CNVs, (ii) genes within de novo CNVs under negative genetic selection, and (iii) genes identified by clinical array comparative genome hybridization studies as potentially pathogenic. We compared the proportion of ohnologs between these gene sets and control genes, mapping to CNVs not known to be disease associated. We found that ohnologs are significantly overrepresented in genes mapping to pathogenic CNVs, irrespective of how CNVs were identified, with over 90% containing an ohnolog, compared with control CNVs >100 kb, where only about 30% contained an ohnolog. In some CNVs, such as del15p11.2 (CYFIP1) and dup/del16p13.11 (NDE1), the most plausible prior candidate gene was also an ohnolog, as were the genes VIPR2 and NRXN1, each found in short CNVs containing no other genes. Our results support the hypothesis that ohnologs represent critical dosage-sensitive elements of the genome, possibly responsible for some of the deleterious phenotypes observed for pathogenic CNVs and as such are readily identifiable candidate genes for further study.
C1 [McLysaght, Aoife; Mitchell, Kevin J.] Univ Dublin Trinity Coll, Smurfit Inst Genet, Dublin 2, Ireland.
[Makino, Takashi] Tohoku Univ, Grad Sch Life Sci, Dept Ecol & Evolutionary Biol, Sendai, Miyagi 9808577, Japan.
[Grayton, Hannah M.; Tropeano, Maria; Vassos, Evangelos; Collier, David A.] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London SE5 8AF, England.
[Collier, David A.] Eli Lilly & Co Ltd, Discovery Neurosci Res, Windlesham GU20 6PH, Surrey, England.
RP McLysaght, A (reprint author), Univ Dublin Trinity Coll, Smurfit Inst Genet, Dublin 2, Ireland.
EM aoife.mclysaght@tcd.ie; evangelos.vassos@kcl.ac.uk
RI Tropeano, Maria/E-7611-2011
OI Tropeano, Maria/0000-0002-5156-7539
FU European Commission [HEALTH-2007-2.2.1-10-223423]; Science Foundation
Ireland; European Research Council (ERC); ERC under the European Union
[309834]; Guy's and St. Thomas' Charity Grant [R080529]
FX D.A.C. is funded by European Commission Seventh Framework Project
PsychCNVs (www.psych-cnv.eu) Grant Agreement
HEALTH-2007-2.2.1-10-223423. A.M. is funded by the Science Foundation
Ireland and the European Research Council (ERC). The research leading to
these results has received funding from the ERC under the European
Union's Seventh Framework Programme (FP7/2007-2013)/ERC Grant Agreement
309834. E.V. is funded by Guy's and St. Thomas' Charity Grant R080529.
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NR 73
TC 2
Z9 2
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 JAN 7
PY 2014
VL 111
IS 1
BP 361
EP 366
DI 10.1073/pnas.1309324111
PG 6
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 284VY
UT WOS:000329350700090
PM 24368850
ER
PT J
AU Sudhakaran, IP
Hillebrand, J
Dervan, A
Das, S
Holohan, EE
Hulsmeier, J
Sarov, M
Parker, R
VijayRaghavan, K
Ramaswami, M
AF Sudhakaran, Indulekha P.
Hillebrand, Jens
Dervan, Adrian
Das, Sudeshna
Holohan, Eimear E.
Huelsmeier, Joern
Sarov, Mihail
Parker, Roy
VijayRaghavan, K.
Ramaswami, Mani
TI FMRP and Ataxin-2 function together in long-term olfactory habituation
and neuronal translational control
SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF
AMERICA
LA English
DT Article
DE synapse plasticity; olfactory memory; neural circuits; neurological
disease
ID FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; AUTISM SPECTRUM
DISORDER; DENDRITIC MESSENGER-RNA; P-BODIES; SYNAPTIC PLASTICITY; STRESS
GRANULES; HIPPOCAMPAL-NEURONS; NMDA RECEPTORS; DROSOPHILA
AB Fragile X mental retardation protein (FMRP) and Ataxin-2 (Atx2) are triplet expansion disease-and stress granule-associated proteins implicated in neuronal translational control and microRNA function. We show that Drosophila FMRP (dFMR1) is required for long-term olfactory habituation (LTH), a phenomenon dependent on Atx2-dependent potentiation of inhibitory transmission from local interneurons (LNs) to projection neurons (PNs) in the antennal lobe. dFMR1 is also required for LTH-associated depression of odor-evoked calcium transients in PNs. Strong transdominant genetic interactions among dFMR1, atx2, the deadbox helicase me31B, and argonaute1 (ago1) mutants, as well as coimmunoprecitation of dFMR1 with Atx2, indicate that dFMR1 and Atx2 function together in a microRNA-dependent process necessary for LTH. Consistently, PN or LN knockdown of dFMR1, Atx2, Me31B, or the miRNA-pathway protein GW182 increases expression of a Ca2+/calmodulin-dependent protein kinase II (CaMKII) translational reporter. Moreover, brain immunoprecipitates of dFMR1 and Atx2 proteins include CaMKII mRNA, indicating respective physical interactions with this mRNA. Because CaMKII is necessary for LTH, these data indicate that fragile X mental retardation protein and Atx2 act via at least one common target RNA for memory-associated long-term synaptic plasticity. The observed requirement in LNs and PNs supports an emerging view that both presynaptic and postsynaptic translation are necessary for long-term synaptic plasticity. However, whereas Atx2 is necessary for the integrity of dendritic and somatic Me31B-containing particles, dFmr1 is not. Together, these data indicate that dFmr1 and Atx2 function in long-term but not short-term memory, regulating translation of at least some common presynaptic and postsynaptic target mRNAs in the same cells.
C1 [Sudhakaran, Indulekha P.; Das, Sudeshna; VijayRaghavan, K.; Ramaswami, Mani] Tata Inst Fundamental Res, Natl Ctr Biol Sci, Bangalore 560065, Karnataka, India.
[Hillebrand, Jens; Dervan, Adrian; Holohan, Eimear E.; Huelsmeier, Joern; Ramaswami, Mani] Univ Dublin Trinity Coll, Smurfit Inst Genet, Sch Genet & Microbiol, Dublin 2, Ireland.
[Hillebrand, Jens; Dervan, Adrian; Holohan, Eimear E.; Huelsmeier, Joern; Ramaswami, Mani] Univ Dublin Trinity Coll, Smurfit Inst Genet, Sch Nat Sci, Dublin 2, Ireland.
[Hillebrand, Jens; Dervan, Adrian; Holohan, Eimear E.; Huelsmeier, Joern; Ramaswami, Mani] Univ Dublin Trinity Coll, Trinity Coll, Inst Neurosci, Dublin 2, Ireland.
[Sarov, Mihail] Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany.
[Parker, Roy] Univ Colorado, Howard Hughes Med Inst, Boulder, CO 80309 USA.
[Parker, Roy] Univ Colorado, Dept Chem, Boulder, CO 80309 USA.
RP Ramaswami, M (reprint author), Tata Inst Fundamental Res, Natl Ctr Biol Sci, Bangalore 560065, Karnataka, India.
EM mani.ramaswami@tcd.ie
FU Science Foundation Ireland; Government of India Department of
Biotechnology; National Centre for Biological Sciences; Tata Institute
of Fundamental Research, Bangalore, India; Government of India Council
of Scientific and Industrial Research (CSIR)
FX We thank Madhumala Sadanandappa, John Lee, and Isabell Twick for advice
and help throughout the course of these experiments, and L. Pallanck, D.
Zarnescu, A. Nakamura, J. Dubnau, G. Jefferis, T. Tully, V. Jayaraman,
L. Looger, and Bassem Hassan (Vlaams Instituut voor Biotechnologie,
Flanders, Belgium), and also Bloomington and Vienna Stock Centers, for
fly stocks and reagents. This work was funded by grants from Science
Foundation Ireland (to M. R.), the Government of India Department of
Biotechnology (to K. V.), and Core funds from the National Centre for
Biological Sciences, Tata Institute of Fundamental Research, Bangalore,
India. I. P. S. was supported by a Government of India Council of
Scientific and Industrial Research (CSIR) postgraduate fellowship.
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NR 97
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 JAN 7
PY 2014
VL 111
IS 1
BP E99
EP E108
DI 10.1073/pnas.1309543111
PG 10
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 284VY
UT WOS:000329350700015
PM 24344294
ER
PT J
AU Takeuchi, H
Taki, Y
Sassa, Y
Hashizume, H
Sekiguchi, A
Fukushima, A
Kawashima, R
AF Takeuchi, Hikaru
Taki, Yasuyuki
Sassa, Yuko
Hashizume, Hiroshi
Sekiguchi, Atsushi
Fukushima, Ai
Kawashima, Ryuta
TI Regional Gray Matter Volume Is Associated with Empathizing and
Systemizing in Young Adults
SO PLOS ONE
LA English
DT Article
ID VOXEL-BASED MORPHOMETRY; MIRROR-NEURON SYSTEM; HIGH-FUNCTIONING AUTISM;
NORMAL SEX-DIFFERENCES; SPECTRUM QUOTIENT AQ; ASPERGER-SYNDROME; BRAIN
STRUCTURE; INDIVIDUAL-DIFFERENCES; GENERAL INTELLIGENCE; PREFRONTAL
CORTEX
AB Empathizing is defined as the drive to identify the mental states of others for predicting their behavior and responding with an appropriate emotion. Systemizing is defined as the drive to analyze a system in terms of the rules that govern the system in order to predict its behavior. Using voxel-based morphometry and questionnaires in a large sample of normal, right-handed young adults, we investigated the regional gray matter volume (rGMV) correlates of empathizing and systemizing and additionally those of the D score, which is the difference between systemizing and empathizing, to reveal the comprehensive picture of those correlates. Negative rGMV correlates of empathizing and positive rGMV correlates of the D score (formed by the negative correlation between rGMV and empathizing), were found primarily in nodes in the default mode network, mirror neuron system, dorsal anterior cingulate cortex, and the lateral part of the prefrontal cortex together with other areas. Positive rGMV correlates of systemizing and of the D score (formed by the positive correlation between rGMV and systemizing) were found primarily in nodes in the external attention system, middle cingulate cortex, and other regions. Negative rGMV correlates of systemizing were found in an area close to the left posterior insula and putamen. These findings reconcile some previously inconsistent findings, provide other new findings and suggest that these areas contribute to empathizing-systemizing. Furthermore, the negative/positive rGMV correlates of empathizing and positive/negative rGMV correlates of systemizing overlapped substantially. This may be in line with the notion that empathizing and systemizing compete neurally in the brain.
C1 [Takeuchi, Hikaru; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Smart Ageing Int Res Ctr, Sendai, Miyagi 980, Japan.
[Taki, Yasuyuki; Sassa, Yuko; Hashizume, Hiroshi; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Div Dev Cognit Neurosci, Sendai, Miyagi 980, Japan.
[Sekiguchi, Atsushi; Fukushima, Ai; Kawashima, Ryuta] Tohoku Univ, Inst Dev Aging & Canc, Dept Funct Brain Imaging, Sendai, Miyagi 980, Japan.
RP Takeuchi, H (reprint author), Tohoku Univ, Inst Dev Aging & Canc, Smart Ageing Int Res Ctr, Sendai, Miyagi 980, Japan.
EM takehi@idac.tohoku.ac.jp
FU JST/RISTEX, JST/CREST
FX This study was supported by JST/RISTEX, JST/CREST (no particular numbers
exist). 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 129
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 JAN 7
PY 2014
VL 9
IS 1
AR e84782
DI 10.1371/journal.pone.0084782
PG 16
WC Multidisciplinary Sciences
SC Science & Technology - Other Topics
GA 286JC
UT WOS:000329463500032
PM 24409308
ER
PT J
AU Epstein, I
Tushev, G
Will, TJ
Vlatkovic, I
Cajigas, IJ
Schuman, EM
AF Epstein, Irina
Tushev, Georgi
Will, Tristan J.
Vlatkovic, Irena
Cajigas, Ivan J.
Schuman, Erin M.
TI Alternative polyadenylation and differential expression of Shank mRNAs
in the synaptic neuropil
SO PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
LA English
DT Article
DE Shank mRNA; hippocampus; 3 ' untranslated region; synaptic neuropil;
alternative polyadenylation
ID AUTISM SPECTRUM DISORDER; DENDRITIC PROTEIN-SYNTHESIS; 3' UNTRANSLATED
REGIONS; POSTSYNAPTIC DENSITY; GENE-EXPRESSION; HUMAN GENOME;
PLASTICITY; FAMILY; MICE; MUTATIONS
AB The stability and dynamics of synapses rely on tight regulation of the synaptic proteome. Shank proteins, encoded by the three genes Shank1, Shank2 and Shank3 are scaffold molecules in the postsynaptic density of excitatory neurons that contribute to activity-dependent neuronal signalling. Mutations in the Shank genes are associated with neurological diseases. Using state-of-the-art technologies, we investigated the levels of expression of the Shank family messenger RNAs (mRNAs) within the synaptic neuropil of the rat hippocampus. We detected all three Shank transcripts in the neuropil of CA1 pyramidal neurons. We found Shank1 to be the most abundantly expressed among the three Shank mRNA homologues. We also examined the turnover of Shank mRNAs and predict the half-lives of Shank1, Shank2 and Shank3 mRNAs to be 18-28 h. Using 3'-end sequencing, we identified novel 3' ends for the Shank1 and Shank2 3' untranslated regions (3' UTRs) that may contribute to the diversity of alternative polyadenylation (APA) for the Shank transcripts. Our findings consolidate the view that the Shank molecules play a central role at the postsynaptic density. This study may shed light on synaptopathologies associated with disruption of local protein synthesis, perhaps linked to mutations in mRNA 3' UTRs or inappropriate 3' end processing.
C1 [Epstein, Irina; Tushev, Georgi; Will, Tristan J.; Vlatkovic, Irena; Cajigas, Ivan J.; Schuman, Erin M.] Max Planck Inst Brain Res, D-60438 Frankfurt, Germany.
RP Schuman, EM (reprint author), Max Planck Inst Brain Res, Max von Laue Str 4, D-60438 Frankfurt, Germany.
EM erin.schuman@brain.mpg.de
FU ERC
FX The project was financially supported by an ERC advanced investigator
grant to E.M.S.
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NR 52
TC 2
Z9 2
PU ROYAL SOC
PI LONDON
PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND
SN 0962-8436
EI 1471-2970
J9 PHILOS T R SOC B
JI Philos. Trans. R. Soc. B-Biol. Sci.
PD JAN 5
PY 2014
VL 369
IS 1633
AR 20130137
DI 10.1098/rstb.2013.0137
PG 8
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AC4AQ
UT WOS:000332463400008
PM 24298140
ER
PT J
AU Barnea-Goraly, N
Frazier, TW
Piacenza, L
Minshew, NJ
Keshavan, MS
Reiss, AL
Hardan, AY
AF Barnea-Goraly, Naama
Frazier, Thomas W.
Piacenza, Lucia
Minshew, Nancy J.
Keshavan, Matcheri S.
Reiss, Allan L.
Hardan, Antonio Y.
TI A preliminary longitudinal volumetric MRI study of amygdala and
hippocampal volumes in autism
SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
LA English
DT Article
DE Amygdala; Autism; Hippocampus
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; MEDIAL TEMPORAL-LOBE; CORTICAL
THICKNESS; SPECTRUM DISORDER; CHILDREN; ADOLESCENTS; ENLARGEMENT;
MATURATION; BOYS
AB Background: Previous studies suggest that amygdala volume, when compared with healthy controls, is increased in young children with autism, is unchanged in cohorts of older youth, and is smaller in adults. Hippocampal volume, however, does not appear to have age-related changes, and it is unclear whether individuals with autism have volumetric differences in this structure. The goal of this pilot investigation is to characterize the developmental trajectories of the amygdala and hippocampus in children with autism between the ages of 8 and 14 years and to examine clinical correlates of volume change.
Methods: Twenty-three children with autism and 23 controls between the ages of 8 and 12 underwent a magnetic resonance imaging procedure of the brain (T1-weighted) at two time points. Nine children with autism and 14 controls had good quality scans from both time points; however, all usable scans from all subjects (15 children with autism and 22 controls) were included in a mixed effect analysis. Regression models were used to estimate group differences in amygdala and hippocampal volumes. Changes in amygdala and hippocampal volumes (Time 2 - Time 1) were correlated with clinical severity measures.
Results: Amygdala volume changes with time were similar between the two groups. Within the autism group, right amygdala volume change was correlated with the ability to establish appropriate eye contact. Right hippocampal volume was significantly increased in the autism group when compared with controls. Differences in right hippocampal volume change with time between the two groups approached significance.
Conclusion: This study provides preliminary evidence of normalization of amygdala volumes in late childhood and adolescence. It also suggests that hippocampal volumetric differences may exist in autism in late childhood and adolescence. (C) 2013 Elsevier Inc. All rights reserved.
C1 [Barnea-Goraly, Naama; Piacenza, Lucia; Reiss, Allan L.] Ctr Interdisciplinary Brain Sci Res, Dept Psychiat & Behav Sci, Stanford, CA USA.
[Frazier, Thomas W.] Cleveland Clin, Ctr Autism, Cleveland, OH USA.
[Minshew, Nancy J.; Keshavan, Matcheri S.] Univ Pittsburgh, Dept Psychiat & Neurol, Pittsburgh, PA 15260 USA.
[Reiss, Allan L.] Stanford Univ, Dept Pediat, Stanford, CA 94305 USA.
[Hardan, Antonio Y.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA.
RP Barnea-Goraly, N (reprint author), Ctr Interdisciplinary Brain Sci Res, Dept Psychiat & Behav Sci, Stanford, CA USA.
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NR 39
TC 6
Z9 6
PU PERGAMON-ELSEVIER SCIENCE LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND
SN 0278-5846
J9 PROG NEURO-PSYCHOPH
JI Prog. Neuro-Psychopharmacol. Biol. Psychiatry
PD JAN 3
PY 2014
VL 48
BP 124
EP 128
DI 10.1016/j.pnpbp.2013.09.010
PG 5
WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry
SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry
GA 267CM
UT WOS:000328074200018
PM 24075822
ER
PT J
AU Murphy, D
AF Murphy, David
TI Self-reported anger among individuals with an autism spectrum disorder
detained in high security psychiatric care: do preoccupations have an
influence?
SO JOURNAL OF FORENSIC PSYCHIATRY & PSYCHOLOGY
LA English
DT Article
DE autistic spectrum disorders; anger; STAXI 2; preoccupations
ID HIGH-FUNCTIONING AUTISM; EMOTION REGULATION; ASPERGERS-SYNDROME; ADULTS;
BEHAVIOR; SAMPLE
AB The State Trait Anger Expression Inventory (STAXI 2) is a widely used measure of the experience and expression of anger within forensic populations. Despite anger expression difficulties being common among individuals with an Autism Spectrum Disorder (ASD), little is known as to how those who offend perform in the STAXI 2. In exploring the application of the STAXI 2 to individuals with an ASD, two groups detained in high security psychiatric care were compared. Results suggest that whilst those with offending unconnected to a preoccupation have more complex psychiatric presentations, MANOVAs revealed no differences in demographic and cognitive characteristics. Within the Autism Spectrum Quotient, those with offending linked to a preoccupation score higher in the attending to details scale and in the STAXI 2 reported significantly lower levels of anger expression out'. It is proposed that an examination of anger is useful for all individuals with an ASD who offend.
C1 Broadmoor Hosp, Crowthorne, Berks, England.
RP Murphy, D (reprint author), Broadmoor Hosp, Crowthorne, Berks, England.
EM david.murphy@wlmht.nhs.uk
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NR 26
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1478-9949
EI 1478-9957
J9 J FORENSIC PSYCHI PS
JI J. Forensic Psychiatry Psychol.
PD JAN 2
PY 2014
VL 25
IS 1
BP 100
EP 112
DI 10.1080/14789949.2013.862291
PG 13
WC Criminology & Penology; Psychiatry
SC Criminology & Penology; Psychiatry
GA 303QZ
UT WOS:000330690600006
ER
PT J
AU Terzi, A
Marinis, T
Kotsopoulou, A
Francis, K
AF Terzi, Arhonto
Marinis, Theodoros
Kotsopoulou, Angeliki
Francis, Konstantinos
TI Grammatical Abilities of Greek-Speaking Children with Autism
SO LANGUAGE ACQUISITION
LA English
DT Article
ID LANGUAGE IMPAIRMENTS; PRINCIPLE B; ACQUISITION; PRONOUNS; COMPREHENSION;
SLI; REFLEXIVE; SPECTRUM; CLITICS; DEFICIT
AB This study investigates pronoun reference and verbs with nonactive morphology in high-functioning Greek-speaking children with Autism Spectrum Disorders (ASD). It is motivated by problems with reflexive pronouns demonstrated by English-speaking children with ASD and the fact that reflexivity is also expressed via nonactive (reflexive) verbs in Greek. Twenty 5- to 8-year-old children with ASD and 20 vocabulary-matched typically developing controls of the same age range completed a sentence-picture matching, an elicitation, and a judgment task. Children with ASD did not differ from controls in interpreting reflexive and strong pronouns but were less accurate in the comprehension of clitics and omitted clitics in their production. The findings render clitics a vulnerable domain for autism in Greek, and potentially for other languages with clitics, and suggest that this could be a consequence of difficulties in the syntax-pragmatics or the syntax-phonology interface. The two groups did not differ in the comprehension of nonactive morphology but were less accurate in passive than reflexive verbs. We argue that this is likely to stem from the linguistic representation associated with each type of verb, rather than their input frequency.
C1 [Terzi, Arhonto; Kotsopoulou, Angeliki] Technol Educ Inst Western Greece Patras, Patras 26334, Greece.
[Marinis, Theodoros] Univ Reading, Reading RG6 2AH, Berks, England.
[Francis, Konstantinos] Univ Athens, GR-10679 Athens, Greece.
RP Terzi, A (reprint author), Technol Educ Inst Western Greece Patras, Meg Alexandrou 1, Patras 26334, Greece.
EM aterzi@teipat.gr
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NR 69
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1048-9223
EI 1532-7817
J9 LANG ACQUIS
JI Lang. Acquisition
PD JAN 2
PY 2014
VL 21
IS 1
BP 4
EP 44
DI 10.1080/10489223.2013.855216
PG 41
WC Linguistics; Language & Linguistics
SC Linguistics
GA 295GB
UT WOS:000330103500002
ER
PT J
AU He, ZX
O'Roak, BJ
Smith, JD
Wang, G
Hooker, S
Santos-Cortez, RLP
Li, B
Kan, MY
Krumm, N
Nickerson, DA
Shendure, J
Eichler, EE
Leal, SM
AF He, Zongxiao
O'Roak, Brian J.
Smith, Joshua D.
Wang, Gao
Hooker, Stanley
Santos-Cortez, Regie Lyn P.
Li, Biao
Kan, Mengyuan
Krumm, Nik
Nickerson, Deborah A.
Shendure, Jay
Eichler, Evan E.
Leal, Suzanne M.
TI Rare-Variant Extensions of the Transmission Disequilibrium Test:
Application to Autism Exome Sequence Data
SO AMERICAN JOURNAL OF HUMAN GENETICS
LA English
DT Article
ID WHOLE-GENOME ASSOCIATION; HAPLOTYPE RELATIVE RISK; FAMILY-BASED DESIGNS;
DE-NOVO MUTATIONS; LINKAGE DISEQUILIBRIUM; MISSING-DATA; UNRELATED
INDIVIDUALS; GENETIC ASSOCIATION; SPECTRUM DISORDERS; ALZHEIMERS-DISEASE
AB Many population-based rare-variant (RV) association tests, which aggregate variants across a region, have been developed to analyze sequence data. A drawback of analyzing population-based data is that it is difficult to adequately control for population substructure and admixture, and spurious associations can occur. For RVs, this problem can be substantial, because the spectrum of rare variation can differ greatly between populations. A solution is to analyze parent-child trio data, by using the transmission disequilibrium test (TDT), which is robust to population substructure and admixture. We extended the TDT to test for RV associations using four commonly used methods. We demonstrate that for all RV-TDT methods, using proper analysis strategies, type I error is well-controlled even when there are high levels of population substructure or admixture. For trio data, unlike for population-based data, RV allele-counting association methods will lead to inflated type I errors. However type I errors can be properly controlled by obtaining p values empirically through haplotype permutation. The power of the RV-TDT methods was evaluated and compared to the analysis of case-control data with a number of genetic and disease models. The RV-TDT was also used to analyze exome data from 199 Simons Simplex Collection autism trios and an association was observed with variants in ABCA7. Given the problem of adequately controlling for population substructure and admixture in RV association studies and the growing number of sequence-based trio studies, the RV-TDT is extremely beneficial to elucidate the involvement of RVs in the etiology of complex traits.
C1 [He, Zongxiao; Wang, Gao; Hooker, Stanley; Santos-Cortez, Regie Lyn P.; Li, Biao; Kan, Mengyuan; Leal, Suzanne M.] Baylor Coll Med, Dept Mol & Human Genet, Ctr Stat Genet, Houston, TX 77030 USA.
[O'Roak, Brian J.; Smith, Joshua D.; Krumm, Nik; Nickerson, Deborah A.; Shendure, Jay; Eichler, Evan E.] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.
RP Leal, SM (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Ctr Stat Genet, Houston, TX 77030 USA.
EM sleal@bcm.edu
FU Simons Foundation Autism Research Initiative [SFARI 137578, 191889];
National Institutes of Health [HD065285, HL102926, MD005964, HG006493]
FX We are grateful to all of the families at the participating Simons
Simplex Collection (SSC) sites, as well as the principal investigators
(A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D.
Geschwind, E. Hanson, D. Grice, A. Klin, R. Kochel, D. Ledbetter, C.
Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey,
B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe,
C. Walsh, Z. Warren, and E. Wijsman). We appreciate obtaining access to
phenotypic data on SEAM Base. This work was supported by the Simons
Foundation Autism Research Initiative (SFARI 137578 and 191889 to E.E.E.
and J.S.). E.E.E. is an Investigator of the Howard Hughes Medical
Institute. This study was also funded by the National Institutes of
Health grants HD065285, HL102926, MD005964, and HG006493.
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NR 59
TC 8
Z9 9
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 JAN 2
PY 2014
VL 94
IS 1
BP 33
EP 46
DI 10.1016/j.ajhg.2013.11.021
PG 14
WC Genetics & Heredity
SC Genetics & Heredity
GA 292FU
UT WOS:000329888400004
PM 24360806
ER
PT J
AU McDonald, J
Lopes, E
AF McDonald, Jasmine
Lopes, Elaine
TI How parents home educate their children with an autism spectrum disorder
with the support of the Schools of Isolated and Distance Education
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE autism spectrum disorder; home education; parent experience; isolated
and distance education
ID MAINSTREAM SECONDARY-SCHOOLS; INCLUSIVE EDUCATION; STRESS; PUPILS;
VIEWS; ASD
AB Students with an autism spectrum disorder (ASD) often cannot access reliable mainstream inclusive practice that maximises their progress over time. In response to this, some parents have chosen to home educate their children. Limited research indicates that while parents find the experience beneficial for their child, there is a need for considerably more educational, social, financial support and respite. In relation to gaining appropriate support, a small number of families have managed to combine the home education of their children with an ASD with access to the services of the Schools of Isolated and Distance Education (SIDE). Little is known about this experience in the research literature. To address this deficit, the first part of this paper traces the establishment of a distance education provider in the State of Western Australia (WA). It outlines subsequent developments and describes the variety of students now catered for by SIDE inclusive of students at educational risk. The second part of the paper reports on the findings of a recent constructivist grounded theory study conducted in a metropolitan WA context that examined how parents from two families dealt with the home education of their children with an ASD with the support of SIDE.
C1 [McDonald, Jasmine; Lopes, Elaine] Univ Western Australia, Grad Sch Educ, Perth, WA 6009, Australia.
RP McDonald, J (reprint author), Univ Western Australia, Grad Sch Educ, 35 Stirling Highway, Perth, WA 6009, Australia.
EM jasmine.mcdonald@uwa.edu.au
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NR 61
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD JAN 2
PY 2014
VL 18
IS 1
BP 1
EP 17
DI 10.1080/13603116.2012.751634
PG 17
WC Education & Educational Research
SC Education & Educational Research
GA 289NH
UT WOS:000329688700001
ER
PT J
AU Raver, SA
Bobzien, J
Richels, C
Hester, P
Anthony, N
AF Raver, Sharon A.
Bobzien, Jonna
Richels, Corrin
Hester, Peggy
Anthony, Nicole
TI Using dyad-specific social stories to increase communicative and social
skills of preschoolers with hearing loss in self-contained and inclusive
settings
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE communication; social skills; inclusion; hearing loss; auditory-verbal
approach
ID COCHLEAR IMPLANTS; CHILDREN; AUTISM; DISABILITIES; IMPROVE
AB Children with profound hearing loss often do not have the same prelinguistic opportunities for social and communication interaction as peers with typical hearing and benefit from structured opportunities to learn these skills. This study examined the effect of two interventions to improve the communicative and social skills of four preschoolers with hearing loss in two learning environments: a preschool for children who are deaf (oral approach) and an inclusive regular preschool. A social story with a verbal prompt was provided before play (Intervention 1), and a social story with a teacher prompt and verbal prompting and reinforcement during play were provided (Intervention 2). A single-subject design revealed that in the inclusive settings, three of the four participants increased verbal comments and play turns in Interventions 1 and 2, although some changes were slight. In the oral preschool classroom, two showed improvements in target behaviours with both interventions. Generalisation of skills occurred in two participants. Additionally, all participants generalised some vocabulary from their social story to play. Implications for teaching young children with hearing loss who are oral in inclusive classrooms are discussed.
C1 [Raver, Sharon A.; Bobzien, Jonna; Richels, Corrin; Hester, Peggy; Anthony, Nicole] Old Dominion Univ, Norfolk, VA 23529 USA.
RP Raver, SA (reprint author), Old Dominion Univ, Norfolk, VA 23529 USA.
EM sraverla@odu.edu
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NR 24
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PD JAN 2
PY 2014
VL 18
IS 1
BP 18
EP 35
DI 10.1080/13603116.2012.756543
PG 18
WC Education & Educational Research
SC Education & Educational Research
GA 289NH
UT WOS:000329688700002
ER
PT J
AU Aaltola, E
AF Aaltola, Elisa
TI Affective empathy as core moral agency: psychopathy, autism and reason
revisited
SO PHILOSOPHICAL EXPLORATIONS
LA English
DT Article
DE empathy; affective empathy; moral agency; sentimentalism; moral
psychology
ID EMOTIONAL EMPATHY; NEUROSCIENCE PERSPECTIVE; CRIMINAL PSYCHOPATHS;
WILLIAMS-SYNDROME; ASPERGER-SYNDROME; CHILDREN; BEHAVIOR; JUDGMENT;
OTHERS; PERSONALITY
AB Empathy has become a common point of debate in moral psychology. Recent developments in psychiatry, neurosciences and social psychology have led to the revival of sentimentalism, and the empathy thesis' has suggested that affective empathy, in particular, is a necessary criterion of moral agency. The case of psychopaths - individuals incapable of affective empathy and moral agency, yet capable of rationality - has been utilised in support of this case. Critics, however, have been vocal. They have asserted that the case of autism proves the empathy thesis wrong; that psychopathy centres on rational rather than empathic limitations; that empathy is not relevant to many common normative behaviours; and that rationality is required when empathy fails. The present paper analyses these four criticisms. It will be claimed that they each face severe difficulties, and that moral agency ought to be approached via a multi-tier model, with affective empathy as a baseline.
C1 Univ Eastern Finland, Dept Social Sci, Kuopio, Finland.
RP Aaltola, E (reprint author), Univ Eastern Finland, Dept Social Sci, Kuopio, Finland.
EM elanaa@utu.fi
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NR 56
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1386-9795
EI 1741-5918
J9 PHILOS EXPLOR
JI Philos. Explor.
PD JAN 2
PY 2014
VL 17
IS 1
BP 76
EP 92
DI 10.1080/13869795.2013.825004
PG 17
WC Philosophy
SC Philosophy
GA 293HP
UT WOS:000329962300006
ER
PT J
AU Leonard, HC
Elsabbagh, M
Hill, EL
AF Leonard, Hayley C.
Elsabbagh, Mayada
Hill, Elisabeth L.
CA BASIS Team
TI Early and persistent motor difficulties in infants at-risk of developing
autism spectrum disorder: A prospective study
SO EUROPEAN JOURNAL OF DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE Motor development; Autism spectrum disorders; Infancy
ID SOCIOECONOMIC-STATUS; CHILDREN; DIAGNOSIS; SIBLINGS; IMPAIRMENT;
RECURRENCE; PHENOTYPE; SKILLS
AB Analyses were conducted in order to investigate motor development in younger siblings of children diagnosed with autism spectrum disorder (ASD). Infants at familial risk and low risk of developing ASD were tested longitudinally between the ages of 7 and 36 months. Data were analysed from motor scales on the Mullen Scales of Early Learning and the Vineland Adaptive Behaviour Scales at each age point. Significantly lower motor scores in at-risk infants were evident from the age of 7 months compared to the low-risk group. Infants who were later diagnosed with ASD demonstrated significantly poorer Fine Motor skills at 36 months than at-risk infants without any developmental difficulties. In addition, Gross Motor scores were highly correlated across the two measures for low-risk infants and infants who later developed ASD. Early motor difficulties may be an early indicator of a number of neurodevelopmental disorders, including ASD.
C1 [Leonard, Hayley C.; Hill, Elisabeth L.] Univ London, Dept Psychol, Goldsmiths Coll, London SE14 6NW, England.
[Elsabbagh, Mayada] McGill Univ, Fac Med, Montreal, PQ, Canada.
[Elsabbagh, Mayada] Univ London, Ctr Brain & Cognit Dev, London SE14 6NW, England.
RP Leonard, HC (reprint author), Univ London, Dept Psychol, London SE14 6NW, England.
EM h.leonard@gold.ac.uk
RI Bolton, Patrick/E-8501-2010
OI Bolton, Patrick/0000-0002-5270-6262
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NR 53
TC 5
Z9 5
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1740-5629
EI 1740-5610
J9 EUR J DEV PSYCHOL
JI Eur. J. Dev. Psychol.
PD JAN 2
PY 2014
VL 11
IS 1
BP 18
EP 35
DI 10.1080/17405629.2013.801626
PG 18
WC Psychology, Developmental
SC Psychology
GA 287ML
UT WOS:000329545800001
ER
PT J
AU Schwenck, C
Gohle, B
Hauf, J
Warnke, A
Freitag, CM
Schneider, W
AF Schwenck, Christina
Goehle, Bettina
Hauf, Juliane
Warnke, Andreas
Freitag, Christine M.
Schneider, Wolfgang
TI Cognitive and emotional empathy in typically developing children: The
influence of age, gender, and intelligence
SO EUROPEAN JOURNAL OF DEVELOPMENTAL PSYCHOLOGY
LA English
DT Article
DE Empathy; Emotion recognition; Perspective taking; Gender; IQ; Age
ID SEX-DIFFERENCES; PERSPECTIVE-TAKING; ASPERGER-SYNDROME; ANIMATED SHAPES;
MENTAL STATES; RECOGNITION; AUTISM; BRAIN; EXPRESSIVENESS; ATTRIBUTION
AB In the current study, the influence of age, gender and IQ on cognitive and emotional empathy in school-aged children and adolescents was examined adopting two behavioural paradigms: participants were shown film clips with different scenes of social interaction to which they were asked to respond. Thus, 134 children aged seven to 17 years (mean age=138.4 months, sd=31.66 months) were tested for emotion recognition, perspective taking and emotional empathy. Age strongly influenced components of cognitive empathy and explained 33.5% to 39.1% of the variance. Gender and IQ also were significant predictors, yet only explained 3% to 5%, respectively 8% to 9% of the variance. In contrast, neither age, gender nor IQ were related to emotional empathy. Results suggest developmental maturation of cognitive, but not emotional empathy throughout childhood and adolescence. To explain variability in emotional empathy, additional biological and psychosocial factors need to be studied.
C1 [Schwenck, Christina; Freitag, Christine M.] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany.
[Goehle, Bettina; Hauf, Juliane; Schneider, Wolfgang] Univ Wurzburg, Dept Psychol, D-97070 Wurzburg, Germany.
[Warnke, Andreas] Univ Wurzburg, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-97070 Wurzburg, Germany.
RP Schwenck, C (reprint author), Goethe Univ Frankfurt, Klin Psychiat Psychosomat & Psychotherapie Kindes, Deutschordenstr 50,Haus 92, D-60528 Frankfurt, Germany.
EM christina.schwenck@kgu.de
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NR 42
TC 1
Z9 1
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 1740-5629
EI 1740-5610
J9 EUR J DEV PSYCHOL
JI Eur. J. Dev. Psychol.
PD JAN 2
PY 2014
VL 11
IS 1
BP 63
EP 76
DI 10.1080/17405629.2013.808994
PG 14
WC Psychology, Developmental
SC Psychology
GA 287ML
UT WOS:000329545800007
ER
PT J
AU Reniers, RLEP
Vollm, BA
Elliott, R
Corcoran, R
AF Reniers, Renate L. E. P.
Voellm, Birgit A.
Elliott, Rebecca
Corcoran, Rhiannon
TI Empathy, ToM, and self-other differentiation: An fMRI study of internal
states
SO SOCIAL NEUROSCIENCE
LA English
DT Article
DE Empathy; Theory of Mind; Self-other differentiation; fMRI
ID TEMPORO-PARIETAL JUNCTION; HIGH-FUNCTIONING AUTISM; NORMAL
SEX-DIFFERENCES; PREFRONTAL CORTEX; PERSPECTIVE-TAKING; AUTOBIOGRAPHICAL
MEMORY; ASPERGER-SYNDROME; SOCIAL COGNITION; NEGATIVITY BIAS; NONVERBAL
TASK
AB This study used functional magnetic resonance imaging to examine the neural substrates of empathy, Theory of Mind (ToM), and self-other differentiation involved in the adaptive understanding of people's internal states. Three conditions were distinguished in both sad and neutral (no obvious emotion) contexts. The empathy condition involved imagining what another person is feeling while the more cognitively loaded ToM condition involved imagining what would make another person feel better. The self-reference condition required participants to imagine how they would feel in someone else's situation. Areas previously implicated in empathy, ToM, and self-other differentiation were identified within the different conditions, regardless of emotional context. Specifically, the frontal and temporal poles responded more strongly for ToM than for empathy. The self-reference condition was associated with stronger dorsolateral prefrontal response than the empathy condition, while the reverse comparison revealed a stronger role for right frontal pole. Activations in frontal pole and orbitofrontal cortex were shared between the three conditions. Contrasts of parameter estimates demonstrated modulation by emotional context. The findings of common and differential patterns of responding observed in prefrontal and temporal regions suggest that within the social cognition network empathy, ToM and self-other differentiation have distinct roles that are responsive to context.
C1 [Reniers, Renate L. E. P.; Elliott, Rebecca] Univ Manchester, Neurosci & Psychiat Unit, Manchester, Lancs, England.
[Voellm, Birgit A.] Univ Nottingham, Sect Forens Mental Hlth, Nottingham NG7 2RD, England.
[Corcoran, Rhiannon] Univ Nottingham, Div Psychiat, Nottingham NG7 2RD, England.
RP Reniers, RLEP (reprint author), Univ Manchester, Neurosci & Psychiat Unit, Manchester, Lancs, England.
EM r.l.e.p.reniers@bham.ac.uk
RI Vollm, Birgit/J-6767-2014
OI Vollm, Birgit/0000-0003-4571-3410
FU Magnetic Resonance Imaging Facility of the University of Manchester;
Neuroscience & Psychiatry Unit
FX The authors would like to thank the Magnetic Resonance Imaging Facility
of the University of Manchester for funding the scans and their
assistance in fMRI acquisition, Dr. Shane McKie for his assistance with
data analyses and the Neuroscience & Psychiatry Unit for funding the
participant reimbursement.
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NR 67
TC 2
Z9 2
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 1747-0919
EI 1747-0927
J9 SOC NEUROSCI-UK
JI Soc. Neurosci.
PD JAN 2
PY 2014
VL 9
IS 1
BP 50
EP 62
DI 10.1080/17470919.2013.861360
PG 13
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA 279AB
UT WOS:000328929900005
PM 24294841
ER
PT J
AU Buisine, S
Courgeon, M
Charles, A
Clavel, C
Martin, JC
Tan, N
Grynszpan, O
AF Buisine, Stephanie
Courgeon, Matthieu
Charles, Aurelien
Clavel, Celine
Martin, Jean-Claude
Tan, Ning
Grynszpan, Ouriel
TI The Role of Body Postures in the Recognition of Emotions in Contextually
Rich Scenarios
SO INTERNATIONAL JOURNAL OF HUMAN-COMPUTER INTERACTION
LA English
DT Article
ID FACIAL EXPRESSION; DANCE MOVEMENT; FACE; AUTISM; PERCEPTION; CHARACTER;
CHILDREN; ADULTS; USERS; VOICE
AB In this article the role of different categories of postures in the detection, recognition, and interpretation of emotion in contextually rich scenarios, including ironic items, is investigated. Animated scenarios are designed with 3D virtual agents in order to test 3 conditions: In the still condition, the narrative content was accompanied by emotional facial expressions without any body movements; in the idle condition, emotionally neutral body movements were introduced; and in the congruent condition, emotional body postures congruent with the character's facial expressions were displayed. Those conditions were examined by 27 subjects, and their impact on the viewers' attentional and emotional processes was assessed. The results highlight the importance of the contextual information to emotion recognition and irony interpretation. It is also shown that both idle and emotional postures improve the detection of emotional expressions. Moreover, emotional postures increase the perceived intensity of emotions and the realism of the animations.
C1 [Buisine, Stephanie; Charles, Aurelien] Arts & Metiers ParisTech, F-75013 Paris, France.
[Courgeon, Matthieu; Charles, Aurelien; Clavel, Celine; Martin, Jean-Claude; Tan, Ning] CNRS, LIMSI, F-91405 Orsay, France.
[Courgeon, Matthieu; Charles, Aurelien; Clavel, Celine; Martin, Jean-Claude; Tan, Ning] Paris South Univ, Orsay, France.
[Grynszpan, Ouriel] Hop La Pitie Salpetriere, Paris, France.
RP Buisine, S (reprint author), Arts & Metiers ParisTech, LCPI, 151 Bd Hop, F-75013 Paris, France.
EM stephanie.buisine@ensam.eu
FU La Fondation de France; La Fondation Adrienne et Pierre Sommer [2007
005874]
FX This study was partly supported by a grant from La Fondation de France
and La Fondation Adrienne et Pierre Sommer, as part of a project on
Virtual Environments for Socio-Cognitive Training in Autism (EVESCA
project, Engt no2007 005874, coordinated by Ouriel Grynszpan).
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NR 58
TC 1
Z9 1
PU TAYLOR & FRANCIS INC
PI PHILADELPHIA
PA 530 WALNUT STREET, STE 850, PHILADELPHIA, PA 19106 USA
SN 1044-7318
EI 1532-7590
J9 INT J HUM-COMPUT INT
JI Int. J. Hum.-Comput. Interact.
PD JAN 2
PY 2014
VL 30
IS 1
BP 52
EP 62
DI 10.1080/10447318.2013.802200
PG 11
WC Computer Science, Cybernetics; Ergonomics
SC Computer Science; Engineering
GA 259FQ
UT WOS:000327513200006
ER
PT J
AU Preslar, J
Kushner, HI
Marino, L
Pearce, B
AF Preslar, Jessica
Kushner, Howard I.
Marino, Lori
Pearce, Bradley
TI Autism, lateralisation, and handedness: A review of the literature and
meta-analysis
SO LATERALITY
LA English
DT Article
DE Autism; Lateralisation; Handedness
ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM
DISORDERS; CORPUS-CALLOSUM; HEMISPHERIC-SPECIALIZATION; LANGUAGE
IMPAIRMENT; ASPERGER-SYNDROME; SEX-DIFFERENCES; SOCIAL BRAIN;
YOUNG-ADULTS
AB A number of recent investigators have hypothesised a link between autism, left-handedness, and brain laterality. Their findings have varied widely, in part because these studies have relied on different methodologies and definitions. We conducted a systematic review and meta-analysis to assess the literature, with the hypothesis that there would be an association between autism and laterality that would be moderated by handedness, sex, age, brain region studied, and level of autism. From a broad search resulting in 259 papers, 54 were identified for inclusion in the literature review. This list was narrowed further to include only studies reporting results in the inferior frontal gyrus for meta-analysis, resulting in four papers. The meta-analysis found a moderate but non-significant effect size of group on lateralisation, suggesting a decrease in strength of lateralisation in the autistic group, a trend supported by the literature review. A subgroup analysis of sex and a meta-regression of handedness showed that these moderating variables did not have a significant effect on this relationship. Although the results are not conclusive, there appears to be a trend towards a relationship between autism and lateralisation. However, more rigorous studies with better controls and clearer reporting of definitions and results are needed.
C1 [Preslar, Jessica] Emory Univ, Dept Neurosci & Behav Biol, Atlanta, GA 30322 USA.
[Kushner, Howard I.] Emory Univ, Rollins Sch Publ Hlth, Dept Behav Sci & Hlth Educ, Atlanta, GA 30322 USA.
[Kushner, Howard I.] Emory Univ, Program Neurosci & Behav Biol, Atlanta, GA 30322 USA.
[Marino, Lori] Emory Univ, Coll Arts & Sci, Inst Liberal Arts, Atlanta, GA 30322 USA.
[Pearce, Bradley] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30322 USA.
RP Preslar, J (reprint author), Emory Univ, Dept Neurosci & Behav Biol, Atlanta, GA 30322 USA.
EM jpresla@emory.edu
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NR 94
TC 0
Z9 0
PU PSYCHOLOGY PRESS
PI HOVE
PA 27 CHURCH RD, HOVE BN3 2FA, EAST SUSSEX, ENGLAND
SN 1357-650X
EI 1464-0678
J9 LATERALITY
JI Laterality
PD JAN 2
PY 2014
VL 19
IS 1
BP 64
EP 95
DI 10.1080/1357650X.2013.772621
PG 32
WC Psychology, Multidisciplinary; Psychology, Experimental
SC Psychology
GA 250PR
UT WOS:000326865800004
PM 23477561
ER
PT J
AU Lloveras, E
Vendrell, T
Fernandez, A
Castells, N
Cueto, A
del Campo, M
Hernando, C
Villa, O
Plaja, A
AF Lloveras, Elisabet
Vendrell, Teresa
Fernandez, Asuncion
Castells, Neus
Cueto, Ana
del Campo, Miguel
Hernando, Cristina
Villa, Olaya
Plaja, Alberto
TI Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial
Deletion and Duplication in Two Siblings: Further Delineation of the
Emerging Proximal 3p Deletion Syndrome
SO CYTOGENETIC AND GENOME RESEARCH
LA English
DT Article
DE Array-CGH; FOXP1; Intrachromosomal insertion; Proximal 3p deletion
syndrome; ROBO2
ID AUTISM; FOXP1; CHROMOSOME-3P; DISORDERS; PATIENT; CHILD; DELAY; GENE
AB Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46, XY, ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart. (C) 2015 S. Karger AG, Basel
C1 [Lloveras, Elisabet; Vendrell, Teresa; Fernandez, Asuncion; Castells, Neus; Cueto, Ana; del Campo, Miguel; Plaja, Alberto] Hosp Valle De Hebron, Genet, Barcelona, Spain.
[Lloveras, Elisabet; Plaja, Alberto] LABCO Diagnost Iberia, Dept Citogenet, ES-08029 Barcelona, Spain.
[Hernando, Cristina; Villa, Olaya] Quantitat Genom Med Labs SL, QGen, Barcelona, Spain.
RP Lloveras, E (reprint author), LABCO Diagnost Iberia, Dept Citogenet, C Londres 28, ES-08029 Barcelona, Spain.
EM elilloveras@yahoo.es
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NR 16
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1424-8581
EI 1424-859X
J9 CYTOGENET GENOME RES
JI Cytogenet. Genome Res.
PY 2014
VL 144
IS 4
BP 290
EP 293
DI 10.1159/000375184
PG 4
WC Cell Biology; Genetics & Heredity
SC Cell Biology; Genetics & Heredity
GA CG5BB
UT WOS:000353302800006
PM 25720458
ER
PT J
AU Babinska, K
Bucova, M
Durmanova, V
Lakatosova, S
Janosikova, D
Bakos, J
Hlavata, A
Ostatnikova, D
AF Babinska, K.
Bucova, M.
Durmanova, V.
Lakatosova, S.
Janosikova, D.
Bakos, J.
Hlavata, A.
Ostatnikova, D.
TI Increased Plasma Levels of the High Mobility Group Box 1 Protein (HMGB1)
Are Associated With a Higher Score of Gastrointestinal Dysfunction in
Individuals With Autism
SO PHYSIOLOGICAL RESEARCH
LA English
DT Article
DE Autism; Inflammation; HMGB1 plasma levels; Gastrointestinal symptoms
ID IMMUNE DYSREGULATION; SPECTRUM DISORDERS; INFLAMMATION; DISEASE
AB Autism is a disorder of neural development characterized by impairments in communication, social interaction, restricted interests and repetitive behavior. The etiology of autism is poorly understood, the evidence indicates that inflammation may play a key role. In autism a high prevalence of gastrointestinal disturbances is reported, that are linked to a low-grade chronic inflammation of the intestinal mucosa. High mobility group box 1 protein (HMGB1) is an intranuclear protein that can be passively released from necrotic cells or actively secreted under inflammatory conditions as alarmin or late proinflammatory cytokine. The objective of this study was to measure plasma levels of HMGB1 in individuals with autism and to analyze their association with gastrointestinal symptoms. The study involved 31 subjects with low-functioning autistic disorder aged 2-22 years and 16 healthy controls. Plasma HMGB1 levels were significantly higher in individuals with autism than in controls (13.8 +/- 11.7 ng/ml vs. 7.90 +/- 4.0 ng/ml, p<0.02). In subjects with plasma HMGB1levels higher than 11 ng/ml severe forms of GI disorders were more prevalent (83.3 %) than in subjects with lower levels (38.9 %, p<0.04). Results of the study support the involvement of the systemic low-grade inflammation in the pathomechanisms of autism and its possible association with GI symptoms.
C1 [Babinska, K.; Lakatosova, S.; Bakos, J.; Ostatnikova, D.] Comenius Univ, Inst Physiol, Fac Med, Bratislava 81372, Slovakia.
[Bucova, M.; Durmanova, V.] Comenius Univ, Fac Med, Inst Immunol, Bratislava 81372, Slovakia.
[Janosikova, D.] Trnava Univ, Fac Philosophy, Dept Psychol, Trnava, Slovakia.
[Bakos, J.] Slovak Acad Sci, Inst Expt Endocrinol, Bratislava, Slovakia.
[Hlavata, A.] Comenius Univ, Dept Pediat 2, Fac Med, Bratislava 81372, Slovakia.
[Hlavata, A.] Univ Childrens Hosp, Bratislava, Slovakia.
RP Babinska, K (reprint author), Comenius Univ, Inst Physiol, Fac Med, Sasinkova 2, Bratislava 81372, Slovakia.
EM katarina.babinska@fmed.uniba.sk
FU [APVV 0254-11]; [APVV 0253-10]
FX The project was supported by the grants APVV 0254-11 and APVV 0253-10.
We wish to thank the individuals and families who graciously
participated in this study.
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Yang H, 2010, BBA-GENE REGUL MECH, V1799, P149, DOI [10.1016/j.bbagrm.2009.11.019, 10.1016/j.bbagrm.2009.11.049]
NR 19
TC 0
Z9 0
PU ACAD SCIENCES CZECH REPUBLIC, INST PHYSIOLOGY
PI PRAGUE 4
PA VIDENSKA 1083, PRAGUE 4 142 20, CZECH REPUBLIC
SN 0862-8408
EI 1802-9973
J9 PHYSIOL RES
JI Physiol. Res.
PY 2014
VL 63
SU 4
BP S613
EP S618
PG 6
WC Physiology
SC Physiology
GA CD3WI
UT WOS:000351014100018
PM 25669692
ER
PT J
AU Bangel, KA
Batty, M
Ye, AX
Meaux, E
Taylor, MJ
Doesburg, SM
AF Bangel, Katrin A.
Batty, Magali
Ye, Annette X.
Meaux, Emilie
Taylor, Margot J.
Doesburg, Sam M.
TI Reduced beta band connectivity during number estimation in autism
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism spectrum disorder; Beta band; Feature integration; Neural
oscillations; Neural synchrony; Numerosity
ID HIGH-FUNCTIONING AUTISM; TERM-MEMORY TASK; SPECTRUM DISORDERS;
CORPUS-CALLOSUM; TOP-DOWN; HEMISPHERIC ASYMMETRIES; SELECTIVE ATTENTION;
VISUAL-ATTENTION; WHITE-MATTER; HUMAN BRAIN
AB Recent evidence suggests that disruption of integrative processes in sensation and perception may play a critical role in cognitive and behavioural atypicalities characteristic of ASD. In line with this, ASD is associated with altered structural and functional brain connectivity and atypical patterns of inter-regional communication which have been proposed to contribute to cognitive difficulties prevalent in this group. The present MEG study used atlas-guided source space analysis of inter-regional phase synchronization in ASD participants, as well as matched typically developing controls, during a dot number estimation task. This task included stimuli with globally integrated forms (animal shapes) as well as randomly-shaped stimuli which lacked a coherent global pattern. Early task-dependent increases in inter-regional phase synchrony in theta, alpha and beta frequency bands were observed. Reduced long-range beta-band phase synchronization was found in participants with ASD at 70-145 ms during presentation of globally coherent dot patterns. This early reduction in taskdependent inter-regional connectivity encompassed numerous areas including occipital, parietal, temporal, and frontal lobe regions. These results provide the first evidence for inter-regional phase synchronization during numerosity estimation, as well as its alteration in ASD, and suggest that problems with communication among brain areas may contribute to difficultieswith integrative processes relevant to extraction of meaningful 'Gestalt' features in this population. (C) 2014 Published by Elsevier Inc.
C1 [Bangel, Katrin A.; Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Diagnost Imaging Res, Toronto, ON M5G 1Z8, Canada.
[Bangel, Katrin A.; Ye, Annette X.; Taylor, Margot J.; Doesburg, Sam M.] Hosp Sick Children, Res Inst, Toronto, ON M5G 1Z8, Canada.
[Bangel, Katrin A.] Univ Amsterdam, Acad Med Ctr, Dept Psychiat, NL-1105 AZ Amsterdam, Netherlands.
[Batty, Magali] Univ Tours, INSERM, UMR Imagerie & Cerveau U930, Tours, France.
[Ye, Annette X.] Univ Toronto, Inst Med Sci, Toronto, ON, Canada.
[Meaux, Emilie] Ctr Med Univ Geneva, Dept Neurosci & Clin Neurol, Lab Neurol & Imaging Cognit, Geneva, Switzerland.
[Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Dept Med Imaging, Toronto, ON, Canada.
[Taylor, Margot J.; Doesburg, Sam M.] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada.
RP Doesburg, SM (reprint author), Hosp Sick Children, Diagnost Imaging Res, 555 Univ Ave, Toronto, ON M5G 1Z8, Canada.
EM sam.doesburg@sickkids.ca
FU CIHR [MOP-81161]; NSERC [RGPIN-435659]; VSB [13/116]
FX We would like to thank Simeon M. Wong and Daniel Cassel for their help
with the data analyses. We would also like to thank CIHR (MOP-81161) for
financial support of this project to Margot J. Taylor, NSERC
(RGPIN-435659) for financial support to Sam M. Doesburg, and VSB
(13/116) for financial support to Katrin A. Bangel.
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NR 162
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 6
BP 202
EP 213
DI 10.1016/j.nicl.2014.08.020
PG 12
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LL
UT WOS:000349668500023
PM 25379432
ER
PT J
AU Gebauer, L
Skewes, J
Horlyck, L
Vuust, P
AF Gebauer, Line
Skewes, Joshua
Horlyck, Lone
Vuust, Peter
TI Atypical perception of affective prosody in Autism Spectrum Disorder
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism spectrum disorder; Speech; Affective prosody; Emotion; Caudate
ID HIGH-FUNCTIONING AUTISM; EMOTIONAL PROSODY; ASPERGERS-SYNDROME;
MEANINGLESS SPEECH; BRAIN-REGIONS; CHILDREN; LANGUAGE; ADOLESCENTS;
RECOGNITION; ADULTS
AB Autism Spectrum Disorder (ASD) is characterized by impairments in language and social-emotional cognition. Yet, findings of emotion recognition from affective prosody in individuals with ASD are inconsistent. This study investigated emotion recognition and neural processing of affective prosody in high-functioning adults with ASD relative to neurotypical (NT) adults. Individuals with ASD showed mostly typical brain activation of the fronto-temporal and subcortical brain regions in response to affective prosody. Yet, the ASD group showed a trend towards increased activation of the right caudate during processing of affective prosody and rated the emotional intensity lower than NT individuals. This is likely associated with increased attentional task demands in this group, which might contribute to social-emotional impairments. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Gebauer, Line; Horlyck, Lone; Vuust, Peter] Aarhus Univ, Ctr Functionally Integrat Neurosci, DK-8000 Aarhus C, Denmark.
[Gebauer, Line; Skewes, Joshua] Aarhus Univ, Interacting Minds Ctr, DK-8000 Aarhus C, Denmark.
[Vuust, Peter] Royal Acad Mus, DK-8000 Aarhus C, Denmark.
RP Gebauer, L (reprint author), Aarhus Univ, Ctr Functionally Integrat Neurosci, Bldg 10G,5th Floor,Noerrebrogade 44, DK-8000 Aarhus C, Denmark.
EM line.gebauer@psy.au.dk; filjcs@hum.au.dk; skgthrl@ucl.ac.uk;
pv@pet.auh.dk
FU Lundbeck Foundation [R32-A2846]
FX We thank our participants for their participation in this study. This
work was supported by the Lundbeck Foundation (R32-A2846 to L.G.).
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NR 73
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 6
BP 370
EP 378
DI 10.1016/j.nicl.2014.08.025
PG 9
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LL
UT WOS:000349668500041
PM 25379450
ER
PT J
AU Pryweller, JR
Schauder, KB
Anderson, AW
Heacock, JL
Foss-Feig, JH
Newsom, CR
Loring, WA
Cascio, CJ
AF Pryweller, Jennifer R.
Schauder, Kimberly B.
Anderson, Adam W.
Heacock, Jessica L.
Foss-Feig, Jennifer H.
Newsom, Cassandra R.
Loring, Whitney A.
Cascio, Carissa J.
TI White matter correlates of sensory processing in autism spectrum
disorders
SO NEUROIMAGE-CLINICAL
LA English
DT Article
ID ATTENTIONAL NETWORKS; CORPUS-CALLOSUM; DEVELOPMENTAL DELAYS;
YOUNG-CHILDREN; DIAGNOSTIC VALIDITY; BRAIN-DEVELOPMENT; IMAGE-ANALYSIS;
FIBER TRACTS; DIFFUSION; ASSOCIATION
AB Autism spectrum disorder (ASD) has been characterized by atypical socio-communicative behavior, sensorimotor impairment and abnormal neurodevelopmental trajectories. DTI has been used to determine the presence and nature of abnormality in white matter integrity that may contribute to the behavioral phenomena that characterize ASD. Although atypical patterns of sensory responding in ASD are well documented in the behavioral literature, much less is known about the neural networks associated with aberrant sensory processing. To address the roles of basic sensory, sensory association and early attentional processes in sensory responsiveness in ASD, our investigation focused on five white matter fiber tracts known to be involved in these various stages of sensory processing: superior corona radiata, centrum semiovale, inferior longitudinal fasciculus, posterior limb of the internal capsule, and splenium. We acquired high angular resolution diffusion images from 32 children with ASD and 26 typically developing children between the ages of 5 and 8. We also administered sensory assessments to examine brain-behavior relationships between white matter integrity and sensory variables. Our findings suggest a modulatory role of the inferior longitudinal fasciculus and splenium in atypical sensorimotor and early attention processes in ASD. Increased tactile defensiveness was found to be related to reduced fractional anisotropy in the inferior longitudinal fasciculus, which may reflect an aberrant connection between limbic structures in the temporal lobe and the inferior parietal cortex. Our findings also corroborate the modulatory role of the splenium in attentional orienting, but suggest the possibility of a more diffuse or separable network for social orienting in ASD. Future investigation should consider the use of whole brain analyses for a more robust assessment of white matter microstructure. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Pryweller, Jennifer R.] St Jude Childrens Res Hosp, Dept Radiol Sci, Memphis, TN 38105 USA.
[Schauder, Kimberly B.] Univ Rochester, Dept Clin & Social Sci Psychol, Rochester, NY USA.
[Anderson, Adam W.] Vanderbilt Univ, Inst Imaging Sci, Nashville, TN 37211 USA.
[Anderson, Adam W.] Vanderbilt Univ, Dept Radiol & Radiol Sci, Nashville, TN 37211 USA.
[Anderson, Adam W.] Vanderbilt Univ, Dept Biomed Engn, Nashville, TN 37211 USA.
[Heacock, Jessica L.; Newsom, Cassandra R.; Loring, Whitney A.; Cascio, Carissa J.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37211 USA.
[Foss-Feig, Jennifer H.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA.
[Newsom, Cassandra R.; Loring, Whitney A.; Cascio, Carissa J.] Vanderbilt Kennedy Ctr, Nashville, TN USA.
[Newsom, Cassandra R.; Loring, Whitney A.] Vanderbilt Univ, Dept Pediat, Nashville, TN 37211 USA.
RP Cascio, CJ (reprint author), Vanderbilt Univ, Sch Med, 1601 23rd Ave South Suite 3057, Nashville, TN 37211 USA.
EM carissa.cascio@vanderbilt.edu
FU National Institute of Mental Health [K01 MH090232]; Landreth Family
Discovery Grant; Nicholas Hobbs Society of the Vanderbilt Kennedy
Center; National Center for Advancing Translational Sciences [UL1
TR000445, VR 2719]
FX This work was supported by the National Institute of Mental Health (K01
MH090232 awarded to C.J.C.), the Landreth Family Discovery Grant, and
the Nicholas Hobbs Society of the Vanderbilt Kennedy Center. The
National Center for Advancing Translational Sciences (UL1 TR000445)
provided database support and supplemental funding for image acquisition
(VR 2719 awarded to C.J.C.). The laboratory of Dr. Grace Baranek
(University of North Carolina, Chapel Hill) provided access to sensory
assessments and training in their administration and scoring. The
authors thank Dr. Bruce McCandliss for providing software and training
for the ROQS analysis, and Micheal Gmaz Sandbank for behavioral training
assistance for the scanner in a subset of participants.
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NR 105
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 6
BP 379
EP 387
DI 10.1016/j.nicl.2014.09.018
PG 9
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LL
UT WOS:000349668500042
PM 25379451
ER
PT J
AU Frank, E
Benabou, M
Bentzley, B
Bianchi, M
Goldstein, T
Konopka, G
Maywood, E
Pritchett, D
Sheaves, B
Thomas, J
AF Frank, Ellen
Benabou, Marion
Bentzley, Brandon
Bianchi, Matt
Goldstein, Tina
Konopka, Genevieve
Maywood, Elizabeth
Pritchett, David
Sheaves, Bryony
Thomas, Jessica
GP New York Acad Sci
TI Influencing circadian and sleep-wake regulation for prevention and
intervention in mood and anxiety disorders: what makes a good homeostat?
SO ANNALS REPORTS, VOL 1334
SE Annals of the New York Academy of Sciences
LA English
DT Article; Book Chapter
DE homeostasis; circadian rhythms; psychiatry; genetics; mood disorders;
anxiety disorder
ID AUTISM SPECTRUM DISORDERS; SEASONAL AFFECTIVE-DISORDER; POSTTRAUMATIC
STRESS-RESPONSE; MAJOR DEPRESSIVE DISORDER; RETINAL GANGLION-CELLS;
GENE-EXPRESSION; SUPRACHIASMATIC NUCLEUS; LIGHT EXPOSURE;
MORNINGNESS-EVENINGNESS; NEUROTROPHIC FACTOR
AB All living organisms depend on homeostasis, the complex set of interacting metabolic chemical reactions for maintaining life and well-being. This is no less true for psychiatric well-being than for physical well-being. Indeed, a focus on homeostasis forces us to see how inextricably linked mental and physical well-being are. This paper focuses on these linkages. In particular, it addresses the ways in which understanding of disturbed homeostasis may aid in creating classes of patients with mood and anxiety disorders based on such phenotypes. At the cellular level, we may be able to compensate for the inability to study living brain tissue through the study of homeostatic mechanisms in fibroblasts, pluripotent human cells, and mitochondria and determine how homeostasis is disturbed at the level of these peripheral tissues through exogenous stress. We also emphasize the remarkable opportunities for enhancing knowledge in this area that are offered by advances in technology. The study of human behavior, especially when combined with our greatly improved capacity to study unique but isolated populations, offers particularly clear windows into the relationships among genetic, environmental, and behavioral contributions to homeostasis.
C1 [Frank, Ellen; Goldstein, Tina] Univ Pittsburgh, Sch Med, Western Psychiat Inst & Clin, Pittsburgh, PA 15213 USA.
[Benabou, Marion] Inst Pasteur, Paris, France.
[Bentzley, Brandon] Med Univ S Carolina, Dept Neurosci, Charleston, SC 29425 USA.
[Bianchi, Matt] Harvard Univ, Sch Med, Dept Neurol, Sleep Div,Massachusetts Gen Hosp, Boston, MA 02115 USA.
[Konopka, Genevieve] Univ Texas SW Med Ctr Dallas, Dept Neurosci, Dallas, TX 75390 USA.
[Maywood, Elizabeth] MRC Lab Mol Biol, Neurobiol Div, Cambridge, England.
[Pritchett, David] Univ Oxford, John Radcliffe Hosp, Nuffield Lab Ophthalmol, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England.
[Sheaves, Bryony] Univ Oxford, Warneford Hosp, Dept Psychiat, Oxford, England.
[Thomas, Jessica] Glostrup Univ Hosp, Mol Sleep Lab, Glostrup, Denmark.
RP Frank, E (reprint author), Univ Pittsburgh, Sch Med, Western Psychiat Inst & Clin, 3811 OHara St, Pittsburgh, PA 15213 USA.
EM frankE@upmc.edu
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NR 104
TC 0
Z9 0
PU BLACKWELL SCIENCE PUBL
PI OXFORD
PA OSNEY MEAD, OXFORD OX2 0EL, ENGLAND
SN 0077-8923
J9 ANN NY ACAD SCI
JI Ann.NY Acad.Sci.
PY 2014
VL 1334
BP 1
EP 25
DI 10.1111/nyas.12600
PG 25
WC Primary Health Care; Multidisciplinary Sciences
SC General & Internal Medicine; Science & Technology - Other Topics
GA BC1EA
UT WOS:000350025200001
PM 25532787
ER
PT J
AU Ishii-Takahashi, A
Takizawa, R
Nishimura, Y
Kawakubo, Y
Kuwabara, H
Matsubayashi, J
Hamada, K
Okuhata, S
Yahata, N
Igarashi, T
Kawasaki, S
Yamasue, H
Kato, N
Kasai, K
Kano, Y
AF Ishii-Takahashi, Ayaka
Takizawa, Ryu
Nishimura, Yukika
Kawakubo, Yuki
Kuwabara, Hitoshi
Matsubayashi, Junko
Hamada, Kasumi
Okuhata, Shiho
Yahata, Noriaki
Igarashi, Takashi
Kawasaki, Shingo
Yamasue, Hidenori
Kato, Nobumasa
Kasai, Kiyoto
Kano, Yukiko
TI Prefrontal activation during inhibitory control measured by
near-infrared spectroscopy for differentiating between autism spectrum
disorders and attention deficit hyperactivity disorder in adults
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism spectrum disorders; Attention deficit hyperactivity disorder;
Near-infrared spectroscopy; Inhibitory control; Stop signal task
ID PERVASIVE DEVELOPMENTAL DISORDERS; INFERIOR FRONTAL-CORTEX;
HIGH-FUNCTIONING AUTISM; DEFICIT/HYPERACTIVITY DISORDER; EXECUTIVE
FUNCTION; RESPONSE-INHIBITION; WORKING-MEMORY; STIMULANT-MEDICATION;
MOTOR CONTROL; QUOTIENT AQ
AB The differential diagnosis of autism spectrum disorders (ASDs) and attention deficit hyperactivity disorder (ADHD) based solely on symptomatic and behavioral assessments can be difficult, even for experts. Thus, the development of a neuroimaging marker that differentiates ASDs from ADHD would be an important contribution to this field. We assessed the differences in prefrontal activation between adults with ASDs and ADHD using an entirely non-invasive and portable neuroimaging tool, near-infrared spectroscopy. This study included 21 drug naive adults with ASDs, 19 drug-naive adults with ADHD, and 21 healthy subjects matched for age, sex, and IQ. Oxygenated hemoglobin concentration changes in the prefrontal cortex were assessed during a stop signal task and a verbal fluency task. During the stop signal task, compared to the control group, the ASDs group exhibited lower activation in a broad prefrontal area, whereas the ADHD group showed underactivation of the right premotor area, right presupplementary motor area, and bilateral dorsolateral prefrontal cortices. Significant differences were observed in the left ventrolateral prefrontal cortex between the ASDs and ADHD groups during the stop signal task. The leave-one-out cross-validation method using mean oxygenated hemoglobin changes yielded a classification accuracy of 81.4% during inhibitory control. These results were task specific, as the brain activation pattern observed during the verbal fluency task did not differentiate the ASDs and ADHD groups significantly. This study therefore provides evidence of a difference in left ventrolateral prefrontal activation during inhibitory control between adults with ASDs and ADHD. Thus, near-infrared spectroscopy may be useful as an auxiliary tool for the differential diagnosis of such developmental disorders. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.
C1 [Ishii-Takahashi, Ayaka; Takizawa, Ryu; Nishimura, Yukika; Matsubayashi, Junko; Hamada, Kasumi; Okuhata, Shiho; Yahata, Noriaki; Yamasue, Hidenori; Kasai, Kiyoto] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Tokyo 1138655, Japan.
[Kawakubo, Yuki; Kuwabara, Hitoshi] Univ Tokyo, Grad Sch Med, Dept Child Neuropsychiat, Tokyo 1138655, Japan.
[Hamada, Kasumi] Univ Tsukuba, Grad Sch Comprehens Human Sci, Grad Course Disabil Sci, Ibaraki, Japan.
[Okuhata, Shiho] Kyoto Univ, Grad Sch Engn, Dept Elect Engn, Kyoto, Japan.
[Okuhata, Shiho] Japan Soc Promot Sci, Tokyo, Japan.
[Okuhata, Shiho] Natl Ctr Child Hlth & Dev, Tokyo, Japan.
[Igarashi, Takashi; Kawasaki, Shingo] Hitachi Med Corp, Applicat Dev Off, Opt Topog Grp, Chiba, Japan.
[Kato, Nobumasa] Showa Univ, Sch Med, Karasuyama Hosp, Shinagawa, Tokyo, Japan.
RP Ishii-Takahashi, A (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan.
EM ayayak-tky@min.ac.jp
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NR 83
TC 0
Z9 0
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 53
EP 63
DI 10.1016/j.nicl.2013.10.002
PG 11
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600007
PM 24298446
ER
PT J
AU Verly, M
Verhoeven, J
Zink, I
Mantini, D
Peeters, R
Deprez, S
Emsell, L
Boets, B
Noens, I
Steyaert, J
Lagae, L
De Cock, P
Rommel, N
Sunaert, S
AF Verly, Marjolein
Verhoeven, Judith
Zink, Inge
Mantini, Dante
Peeters, Ronald
Deprez, Sabine
Emsell, Louise
Boets, Bart
Noens, Ilse
Steyaert, Jean
Lagae, Lieven
De Cock, Paul
Rommel, Nathalie
Sunaert, Stefan
TI Altered functional connectivity of the language network in ASD: Role of
classical language areas and cerebellum
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism spectrum disorders; Cerebellum; Language function; Resting state
fMRI
ID AUTISM SPECTRUM DISORDERS; INFANTILE-AUTISM; SENTENCE COMPREHENSION;
PREFRONTAL CORTEX; BRAIN-DEVELOPMENT; VERB GENERATION; CROSSING FIBERS;
WHITE-MATTER; MOTOR TASK; IMPAIRMENT
AB The development of language, social interaction and communicative skills is remarkably different in the child with autism spectrum disorder (ASD). Atypical brain connectivity has frequently been reported in this patient population. However, the neural correlates underlying their disrupted language development and functioning are still poorly understood. Using resting state fMRI, we investigated the functional connectivity properties of the language network in a group of ASD patients with clear comorbid language impairment (ASD-LI; N = 19) and compared them to the language related connectivity properties of 23 age-matched typically developing children. A verb generation task was used to determine language components commonly active in both groups. Eight joint language components were identified and subsequently used as seeds in a resting state analysis. Interestingly, both the interregional and the seed-based whole brain connectivity analysis showed preserved connectivity between the classical intrahemispheric language centers, Wernicke's and Broca's areas. In contrast however, a marked loss of functional connectivity was found between the right cerebellar region and the supratentorial regulatory language areas. Also, the connectivity between the interhemispheric Broca regions and modulatory control dorsolateral prefrontal region was found to be decreased. This disruption of normal modulatory control and automation function by the cerebellum may underlie the abnormal language function in children with ASD-LI. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Verly, Marjolein; Zink, Inge; Rommel, Nathalie] Katholieke Univ Leuven, Dept Neurosci Exp ORL, Leuven, Belgium.
[Verly, Marjolein; Verhoeven, Judith; Peeters, Ronald; Deprez, Sabine; Emsell, Louise; Sunaert, Stefan] Katholieke Univ Leuven, Univ Hosp, Dept Radiol, Leuven, Belgium.
[Verhoeven, Judith; Boets, Bart; Noens, Ilse; Steyaert, Jean; De Cock, Paul; Sunaert, Stefan] Katholieke Univ Leuven, Leuven Autism Res LAURES Consortium, Leuven, Belgium.
[Verhoeven, Judith; Lagae, Lieven; De Cock, Paul] Katholieke Univ Leuven, Univ Hosp, Dept Pediat, Leuven, Belgium.
[Mantini, Dante] Univ Oxford, Dept Expt Psychol, Oxford OX1 3UD, England.
[Zink, Inge] ETH, Dept Heath Sci & Technol, CH-8057 Zurich, Switzerland.
[Mantini, Dante] Katholieke Univ Leuven, Dept Neurosci, Lab Neuro & Psychophysiol, B-3000 Leuven, Belgium.
[Boets, Bart; Noens, Ilse] Katholieke Univ Leuven, Parenting & Special Educ Res Unit, Leuven, Belgium.
[Boets, Bart; Steyaert, Jean] Katholieke Univ Leuven, Univ Hosp, Dept Child & Adolescent Psychiat, Leuven, Belgium.
[Noens, Ilse] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.
[Steyaert, Jean] Maastricht Univ, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands.
[De Cock, Paul] Katholieke Univ Leuven, Univ Hosp, Ctr Dev Disabil, Leuven, Belgium.
RP Verly, M (reprint author), Katholieke Univ Leuven, Dept Neurosci Expt Otorinolaryngol, Herestr 49, B-3000 Leuven, Belgium.
EM marjolein.verly@med.kuleuven.be
FU Fund for Scientific Research-Flanders (F.W.O.) [G.0354.06]; Belgian
Inter University Attraction Pole [6/29]; KU Leuven Research Council
[IDO/08/013]
FX The authors are grateful to our participants and healthy volunteers who
made this research possible. This study was supported by the Fund for
Scientific Research-Flanders (F.W.O.) (research grant G.0354.06,
doctoral mandate to JSV, post-doctoral mandate to DM and BB), by the
Belgian Inter University Attraction Pole (grant 6/29) and by the KU
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NR 83
TC 3
Z9 3
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 374
EP 382
DI 10.1016/j.nicl.2014.01.008
PG 9
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600040
PM 24567909
ER
PT J
AU Lazar, M
Miles, LM
Babb, JS
Donaldson, JB
AF Lazar, Mariana
Miles, Laura M.
Babb, James S.
Donaldson, Jeffrey B.
TI Axonal deficits in young adults with High Functioning Autism and their
impact on processing speed
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism Spectrum Disorders; White matter; Diffusional Kurtosis Imaging;
Axonal integrity; Processing speed; Information processing capacity
ID DIAGNOSTIC OBSERVATION SCHEDULE; SUBJECT DIFFUSION DATA; WHITE-MATTER;
SPECTRUM DISORDER; SPATIAL STATISTICS; VOXELWISE ANALYSIS;
CORPUS-CALLOSUM; SPINAL-CORD; BRAIN; CHILDREN
AB Microstructural white matter deficits in Autism Spectrum Disorders (ASD) have been suggested by both histological findings and Diffusion Tensor Imaging (DTI) studies, which show reduced fractional anisotropy (FA) and increased mean diffusivity (MD). However, imaging reports are generally not consistent across studies and the underlying physiological causes of the reported differences in FA and MD remain poorly understood. In this study, we sought to further characterize white matter deficits in ASD by employing an advanced diffusion imaging method, the Diffusional Kurtosis Imaging (DKI), and a two-compartment diffusion model of white matter. This model differentially describes intra-and extra-axonal white matter compartments using Axonal Water Fraction (f(axon)) a measure reflecting axonal caliber and density, and compartment-specific diffusivity measures. Diagnostic utility of these measures and associations with processing speed performance were also examined. Comparative studies were conducted in 16 young male adults with High Functioning Autism (HFA) and 17 typically developing control participants (TDC). Significantly decreased f(axon) was observed in HFA compared to the control group in most of the major white matter tracts, including the corpus callosum, cortico-spinal tracts, and superior longitudinal, inferior longitudinal and inferior fronto-occipital fasciculi. Intra-axonal diffusivity (D-axon) was also found to be reduced in some of these regions. Decreased axial extra-axonal diffusivity (AD(extra)) was noted in the genu of the corpus callosum. Reduced processing speed significantly correlated with decreased f(axon) and D-axon in several tracts. f(axon) of the left cortico-spinal tract and superior longitudinal fasciculi showed good accuracy in discriminating the HFA and TDC groups. In conclusion, these findings suggest altered axonal microstructure in young adults with HFA which is associated with reduced processing speed. Compartment-specific diffusion metrics appear to improve specificity and sensitivity to white matter deficits in this population. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Lazar, Mariana; Miles, Laura M.; Babb, James S.; Donaldson, Jeffrey B.] NYU, Sch Med, Ctr Biomed Imaging, Dept Radiol, New York, NY 10016 USA.
RP Lazar, M (reprint author), NYU, Sch Med, Ctr Biomed Imaging, 660 First Ave,Room 423, New York, NY 10016 USA.
EM mariana.lazar@nyumc.org
FU Global and Regional Asperger Syndrome Partnership (GRASP); Interactive
Autism Network (IAN); Asperger Syndrome and High Functioning Autism
Association (AHANY); National Institutes of Mental Health through NIMH
[R03-MH076180]
FX We thank all our participants and their parents and families for their
time and effort in participating in the study. We also thank the Global
and Regional Asperger Syndrome Partnership (GRASP), Interactive Autism
Network (IAN), and Asperger Syndrome and High Functioning Autism
Association (AHANY) for their support in advertising the study and
recruiting participants. Finally, we thank KellyAnne McGorty, William
Fazio, David Mossa, and Kamil Banibaker for their assistance with
acquiring the MR data and Els Fieremans for discussions related to the
two-compartment model.This study was funded in part by the National
Institutes of Mental Health through NIMH R03-MH076180 award.
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NR 58
TC 2
Z9 2
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 417
EP 425
DI 10.1016/j.nicl.2014.01.014
PG 9
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600045
PM 24624327
ER
PT J
AU Poulin-Lord, MP
Barbeau, EB
Soulieres, I
Monchi, O
Doyon, J
Benali, H
Mottron, L
AF Poulin-Lord, Marie-Pier
Barbeau, Elise B.
Soulieres, Isabelle
Monchi, Oury
Doyon, Julien
Benali, Habib
Mottron, Laurent
TI Increased topographical variability of task-related activation in
perceptive and motor associative regions in adult autistics
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism; fMRI; Plasticity; Primary areas; Associative areas
ID SPECTRUM DISORDERS; FUNCTIONAL CONNECTIVITY; INDIVIDUAL VARIABILITY;
GESTURE IMITATION; PLANUM TEMPORALE; FMRI; CORTEX; FACE; ADOLESCENTS;
BRAIN
AB Background: An enhanced plasticity is suspected to play a role in various microstructural alterations, as well as in regional cortical reallocations observed in autism. Combined with multiple indications of enhanced perceptual functioning in autism, and indications of atypical motor functioning, enhanced plasticity predicts a superior variability in functional cortical allocation, predominant in perceptual and motor regions.
Method: To test this prediction, we scanned 23 autistics and 22 typical participants matched on age, FSIQ, Raven percentile scores and handedness during a visuo-motor imitation task. For each participant, the coordinates of the strongest task-related activation peak were extracted in the primary (Brodmann area 4) and supplementary (BA 6) motor cortex, the visuomotor superior parietal cortex (BA 7), and the primary (BA 17) and associative (BAs 18 + 19) visual areas. Mean signal changes for each ROI in both hemispheres, and the number of voxels composing the strongest activation cluster were individually extracted to compare intensity and size of the signal between groups. For each ROI, in each hemisphere, and for every participant, the distance from their respective group average was used as a variable of interest to determine group differences in localization variability using repeated measures ANOVAs. Between-group comparison of whole-brain activation was also performed.
Results: Both groups displayed a higher mean variability in the localization of activations in the associative areas compared to the primary visual or motor areas. However, despite this shared increased variability in associative cortices, a direct between-group comparison of the individual variability in localization of the activation revealed a significantly greater variability in the autistic group than in the typical group in the left visuo-motor superior parietal cortex (BA 7) and in the left associative visual areas (BAs 18 + 19).
Conclusion: Different and possibly unique strategies are used by each autistic individual. That enhanced variability in localization of activations in the autistic group is found in regions typically more variable in non-autistics raises the possibility that autism involves an enhancement and / or an alteration of typical plasticity mechanisms. The current study also highlights the necessity to verify, in fMRI studies involving autistic people, that hypoactivation at the group level does not result from each individual successfully completing a task using a unique brain allocation, even by comparison to his own group. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Poulin-Lord, Marie-Pier; Barbeau, Elise B.; Soulieres, Isabelle; Mottron, Laurent] Univ Montreal, Ctr Excellence Troubles Envahissants Dev, Montreal, PQ, Canada.
[Poulin-Lord, Marie-Pier; Barbeau, Elise B.; Soulieres, Isabelle; Mottron, Laurent] Inst Univ Sante Mentale Montreal, Ctr Rech, Montreal, PQ, Canada.
[Barbeau, Elise B.; Mottron, Laurent] Univ Montreal, Dept Psychiat, Montreal, PQ H3C 3J7, Canada.
[Soulieres, Isabelle] Univ Quebec Montreal, Dept Psychol, Montreal, PQ, Canada.
[Monchi, Oury] Inst Univ Geriatrie Montreal, Ctr Rech, Montreal, PQ, Canada.
[Monchi, Oury] Univ Montreal, Dept Radiol, Montreal, PQ, Canada.
[Benali, Habib] Fac Med, Lab Imagerie Fonct U678, Paris, France.
[Doyon, Julien] Univ Montreal, Dept Psychol, Unite Neuroimagerie Fonct, Montreal, PQ H3C 3J7, Canada.
RP Mottron, L (reprint author), Hop Riviere des Prairies, Serv Rech, 7070 Blvd Perras, Montreal, PQ H1E 1A4, Canada.
EM laurent.mottron@gmail.com
FU operating grant from the Canadian Institutes of Health Research (CIHR)
[MOP-84243]; studentship from the CIHR
FX This work was supported by an operating grant from the Canadian
Institutes of Health Research (CIHR, No. MOP-84243) to L. Mottron and a
studentship from the CIHR to E.B. Barbeau. The authors want to thank the
participants for their invaluable contribution to this project, Arnaud
Bore for the images and Agnes Jacob for proof reading the article.
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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 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 444
EP 453
DI 10.1016/j.nicl.2014.02.008
PG 10
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600048
PM 25101235
ER
PT J
AU Auzias, G
Viellard, M
Takerkart, S
Villeneuve, N
Poinso, F
Da Fonseca, D
Girard, N
Deruelle, C
AF Auzias, G.
Viellard, M.
Takerkart, S.
Villeneuve, N.
Poinso, F.
Da Fonseca, D.
Girard, N.
Deruelle, C.
TI Atypical sulcal anatomy in young children with autism spectrum disorder
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism; MRI; morphometry; sulci
ID HUMAN CEREBRAL-CORTEX; CORTICAL FOLDING ABNORMALITIES; AGE 2 YEARS;
MAGNETIC-RESONANCE; BRAIN SIZE; NEUROANATOMICAL DIFFERENCES;
SURFACE-AREA; MORPHOMETRY; THICKNESS; GYRIFICATION
AB Autism spectrum disorder is associated with an altered early brain development. However, the specific cortical structure abnormalities underlying this disorder remain largely unknown. Nonetheless, atypical cortical folding provides lingering evidence of early disruptions in neurodevelopmental processes and identifying changes in the geometry of cortical sulci is of primary interest for characterizing these structural abnormalities in autism and their evolution over the first stages of brain development. Here, we applied state-of-the-art sulcus-based morphometry methods to a large highly-selective cohort of 73 young male children of age spanning from 18 to 108 months. Moreover, such large cohort was selected through extensive behavioral assessments and stringent inclusion criteria for the group of 59 children with autism. After manual labeling of 59 different sulci in each hemisphere, we computed multiple shape descriptors for each single sulcus element, hereby separating the folding measurement into distinct factors such as the length and depth of the sulcus. We demonstrated that the central, intraparietal and frontal medial sulci showed a significant and consistent pattern of abnormalities across our different geometrical indices. We also found that autistic and control children exhibited strikingly different relationships between age and structural changes in brain morphology. Lastly, the different measures of sulcus shapes were correlated with the CARS and ADOS scores that are specific to the autistic pathology and indices of symptom severity. Inherently, these structural abnormalities are confined to regions that are functionally relevant with respect to cognitive disorders in ASD. In contrast to those previously reported in adults, it is very unlikely that these abnormalities originate from general compensatory mechanisms unrelated to the primary pathology. Rather, they most probably reflect an early disruption on developmental trajectory that could be part of the primary pathology. (C) 2014 The Authors. Published by Elsevier Inc.
C1 [Auzias, G.; Viellard, M.; Takerkart, S.; Poinso, F.; Da Fonseca, D.; Deruelle, C.] Aix Marseille Univ, CNRS, INT UMR 7289, Marseille, France.
[Viellard, M.; Villeneuve, N.; Poinso, F.] Hop St Marguerite, APHM, Ctr Ressources Autisme, Serv Pedopsychiat, Marseille, France.
[Da Fonseca, D.] Hop Salvator, APHM, Serv Pedopsychiat, Marseille, France.
[Girard, N.] Aix Marseille Univ, CNRS, CRMBM UMR 7339, Marseille, France.
[Girard, N.] APHM Timone, Serv Neuroradiol Diagnost & Intervent, Marseille, France.
RP Auzias, G (reprint author), Fac Med Marseille, Inst Neurosci Timone, 27 Blvd Jean Moulin, F-13385 Marseille 5, France.
EM guillaume.auzias@gmail.com
RI deruelle, christine/E-2130-2015
FU Fondation de France (OTP) [38872]; Fondation Orange [S1 2013-050]
FX This work was supported by a grant from Fondation de France (OTP 38872)
and from Fondation Orange (S1 2013-050).
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NR 80
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 593
EP 603
DI 10.1016/j.nicl.2014.03.008
PG 11
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600065
PM 24936410
ER
PT J
AU Bos, DJ
van Raalten, TR
Oranje, B
Smits, AR
Kobussen, NA
van Belle, J
Rombouts, SARB
Durston, S
AF Bos, Dienke J.
van Raalten, Tamar R.
Oranje, Bob
Smits, Anouk R.
Kobussen, Nieke A.
van Belle, Janna
Rombouts, Serge A. R. B.
Durston, Sarah
TI Developmental differences in higher-order resting-state networks in
Autism Spectrum Disorder
SO NEUROIMAGE-CLINICAL
LA English
DT Article
DE Autism; Development; Connectivity; Networks; Independent Component
Analysis
ID INTRINSIC CONNECTIVITY NETWORKS; HIGH-FUNCTIONING AUTISM; DEFAULT MODE
NETWORK; INDEPENDENT COMPONENTS; DIAGNOSTIC INTERVIEW; BRAIN
CONNECTIVITY; COGNITIVE CONTROL; CINGULATE CORTEX; CORPUS-CALLOSUM;
FRONTAL-CORTEX
AB Objective: Autism Spectrum Disorder (ASD) has been associated with a complex pattern of increases and decreases in resting-state functional connectivity. The developmental disconnection hypothesis of ASD poses that shorter connections become overly well established with development in this disorder, at the cost of long-range connections. Here, we investigated resting-state connectivity in relatively young boys with ASD and typically developing children. We hypothesized that ASD would be associated with reduced connectivity between networks, and increased connectivity within networks, reflecting poorer integration and segregation of functional networks in ASD.
Methods: We acquired resting-state fMRI from 27 boys with ASD and 29 age-and IQ-matched typically developing boys between 6 and 16 years of age. Functional connectivity networks were identified using Independent Component Analysis (ICA). Group comparisons were conducted using permutation testing, with and without voxel-wise correction for grey matter density.
Results: We found no between-group differences in within-network connectivity. However, we did find reduced functional connectivity between two higher-order cognitive networks in ASD. Furthermore, we found an interaction effect with age in the DMN: insula connectivity increased with age in ASD, whereas it decreased in typically developing children.
Conclusions: These results show subtle changes in between network connectivity in relatively young boys with ASD. However, the global architecture of resting-state networks appeared to be intact. This argues against recent suggestions that changes in connectivity in ASD may be the most prominent during development. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license.
C1 [Bos, Dienke J.; van Raalten, Tamar R.; Oranje, Bob; Smits, Anouk R.; Kobussen, Nieke A.; van Belle, Janna; Durston, Sarah] Univ Med Ctr Utrecht, Dept Psychiat, NICHE Lab, Brain Ctr Rudolf Magnus, NL-3584 CX Utrecht, Netherlands.
[Rombouts, Serge A. R. B.] Leiden Univ, Med Ctr, Dept Radiol, Leiden, Netherlands.
[Rombouts, Serge A. R. B.] Leiden Univ, Inst Psychol, Leiden, Netherlands.
[Rombouts, Serge A. R. B.] Leiden Univ, Med Ctr, Leiden Inst Brain & Cognit, Leiden, Netherlands.
RP Bos, DJ (reprint author), Univ Med Ctr Utrecht, Dept Psychiat, NICHE Lab, HP A01-126,Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands.
EM d.j.bos-2@umcutrecht.nl
FU Hersenstichting [F2009(1)-17]; National Initiative Brain and Cognition
of the Netherlands Organization for Scientific Research (NWO) [NIHC
056-13-011]
FX The authors would like to thank all the participants and their parents
of this study. Furthermore, we thank Juliette Weusten and Sarai van Dijk
for the assistance with subject recruitment and MRI assessments. This
study was financially supported by the Hersenstichting (F2009(1)-17) and
the National Initiative Brain and Cognition (NIHC 056-13-011) of the
Netherlands Organization for Scientific Research (NWO). All authors
report no (financial) conflicts of interest.
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von dem Hagen EAH, 2013, SOC COGN AFFECT NEUR, V8, P694, DOI 10.1093/scan/nss053
Washington SD, 2014, HUM BRAIN MAPP, V35, P1284, DOI 10.1002/hbm.22252
Weng SJ, 2010, BRAIN RES, V1313, P202, DOI 10.1016/j.brainres.2009.11.057
Wiggins JL, 2011, BRAIN RES, V1380, P187, DOI 10.1016/j.brainres.2010.10.102
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NR 70
TC 1
Z9 1
PU ELSEVIER SCI LTD
PI OXFORD
PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND
SN 2213-1582
J9 NEUROIMAGE-CLIN
JI NeuroImage-Clin.
PY 2014
VL 4
BP 820
EP 827
DI 10.1016/j.nicl.2014.05.007
PG 8
WC Neuroimaging
SC Neurosciences & Neurology
GA CB5LD
UT WOS:000349667600088
PM 24936432
ER
PT J
AU Sari, OT
AF Sari, Oktay Taymaz
TI OUTCOMES OF PLAY-BASED HOME SUPPORT FOR CHILDREN WITH AUTISM SPECTRUM
DISORDER
SO SOCIAL BEHAVIOR AND PERSONALITY
LA English
DT Article
DE developmental disorders; impulse control; play-based home support; early
childhood education; autism spectrum disorder
ID PERVASIVE DEVELOPMENTAL DISORDERS; EARLY-CHILDHOOD PROGRAMS;
YOUNG-CHILDREN; INTERVENTION PROGRAM; MAINTENANCE TASKS;
SOCIAL-BEHAVIOR; MODEL; SKILLS
AB Play-based home support is an important early education option that leads to positive changes in the development of children who are either at risk of, or have been diagnosed with, developmental disorders. In this case study I analyzed the second year of an education program, based on play-based home support and family education offered to a 4-year-old boy with autism spectrum disorder. I found that: (a) the child demonstrated progress in skills covered by the individualized education, (b) there was a consequential decrease in intensity of autism symptoms, (c) there was evidence of development of the child's attention during playtime, and (d) the child's communication and speech skills showed improvement. The implications of this case study are further discussed in relation to natural learning settings, family cooperation, and early education for children at risk of developmental disorders.
C1 [Sari, Oktay Taymaz] Marmara Univ, Dept Special Educ, TR-34722 Istanbul, Turkey.
RP Sari, OT (reprint author), Marmara Univ, Ataturk Sch Educ, Dept Special Educ, TR-34722 Istanbul, Turkey.
EM oktaytaymaz@gmail.com
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NR 54
TC 0
Z9 0
PU SOC PERSONALITY RES INC
PI PALMERSTON NORTH
PA P O BOX 1539, PALMERSTON NORTH 5330, NEW ZEALAND
SN 0301-2212
EI 1179-6391
J9 SOC BEHAV PERSONAL
JI Soc. Behav. Pers.
PY 2014
VL 42
SU S
BP 65
EP 80
DI 10.2224/sbp.2014.suppl.S65
PG 16
WC Psychology, Social
SC Psychology
GA CB8QW
UT WOS:000349896800007
ER
PT J
AU Begeer, S
Dik, M
de Wind, MJV
Asbrock, D
Brambring, M
Kef, S
AF Begeer, Sander
Dik, Marjolein
de Wind, Marieke J. voor
Asbrock, Doreen
Brambring, Michael
Kef, Sabina
TI A New Look at Theory of Mind in Children With Ocular and Ocular-Plus
Congenital Blindness
SO JOURNAL OF VISUAL IMPAIRMENT & BLINDNESS
LA English
DT Article
ID VISUAL IMPAIRMENT; FALSE BELIEF; NEURAL BASES; K-ABC; AUTISM;
PREMATURITY; RETINOPATHY; DISORDERS; INFANTS; VISION
AB Introduction: Delays in theory of mind (ToM) of children who are congenitally blind have often been attributed to the absence of visual and social experiences. However, these delays could also be partly due to neural factors. In some children, the blindness itself has neural causes (ocular-plus blindness). Children whose blindness has an ocular-plus cause may be more delayed in ToM than children with blindness due to ocular causes. Methods: In the current study, performances of children with congenital ocular-plus blindness (n = 22) and congenital ocular blindness (n = 9) were compared with sighted children (n = 103) on ToM tasks designed for children with blindness. Results: Compared with sighted children, ToM performance was delayed in children with ocular-plus blindness, but not in children with ocular blindness. Discussion: ToM development in children with congenital blindness could be related to factors other than the loss of a sensory function and the lack of visual social and communicative experiences.
C1 [Begeer, Sander; de Wind, Marieke J. voor] Vrije Univ Amsterdam, NL-1081 BT Amsterdam, Netherlands.
[Dik, Marjolein] Natl Fdn Visually Impaired & Blind, Royal Dutch Visio, NL-1105 BE Amsterdam, Netherlands.
[de Wind, Marieke J. voor; Kef, Sabina] Vrije Univ Amsterdam, Dept Educ, Amsterdam, Netherlands.
[Asbrock, Doreen; Brambring, Michael] Psychol Abt, Fak Psychol & Sportwissensch, D-33501 Bielefeld, Germany.
RP Begeer, S (reprint author), Univ Sydney, Sch Psychol, Sydney, NSW 2006, Australia.
EM s.begeer@vu.nl; marjoleindik@hotmail.nl; m.voordewind@vu.nl;
d.asbrock@bielefelder-institut.de; m.brambring@uni-bielefeld.de;
s.kef@vu.nl
CR Asbrock D., 2008, THESIS U BIELEFELD B
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World Health Organization, 2010, PREV BLINDN VIS IMP
NR 46
TC 0
Z9 0
PU AMER FOUNDATION BLIND
PI NEW YORK
PA J VISUAL IMPAIRMENT BLINDNESS 2 PENN PLAZA, SUITE 1102, NEW YORK, NY
10121 USA
SN 0145-482X
EI 1559-1476
J9 J VISUAL IMPAIR BLIN
JI J. Vis. Impair. Blind.
PD JAN-FEB
PY 2014
VL 108
IS 1
BP 17
EP 27
PG 11
WC Rehabilitation
SC Rehabilitation
GA CA8QZ
UT WOS:000349187300003
ER
PT J
AU Desrochers, MN
Oshlag, R
Kennelly, AM
AF Desrochers, Marcie N.
Oshlag, Rebecca
Kennelly, Angela M.
TI Using Background Music to Reduce Problem Behavior During Assessment with
an Adolescent Who Is Blind with Multiple Disabilities
SO JOURNAL OF VISUAL IMPAIRMENT & BLINDNESS
LA English
DT Article
ID CHILDREN; STEREOTYPY; AUTISM
C1 [Desrochers, Marcie N.] SUNY Coll Brockport, Brockport, NY 14420 USA.
[Oshlag, Rebecca] New York State Sch Blind, Batavia, NY 14020 USA.
[Kennelly, Angela M.] Genesee Cty Dept Social Serv, Bergen, NY 14416 USA.
RP Desrochers, MN (reprint author), SUNY Coll Brockport, 350 New Campus Dr, Brockport, NY 14420 USA.
EM mdesroch@brockport.edu; rebeccaoshlag@gmail.com;
angela.kennelly2@dfa.state.ny.us
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Warren D. H., 1984, BLINDNESS EARLY CHIL
NR 16
TC 0
Z9 0
PU AMER FOUNDATION BLIND
PI NEW YORK
PA J VISUAL IMPAIRMENT BLINDNESS 2 PENN PLAZA, SUITE 1102, NEW YORK, NY
10121 USA
SN 0145-482X
EI 1559-1476
J9 J VISUAL IMPAIR BLIN
JI J. Vis. Impair. Blind.
PD JAN-FEB
PY 2014
VL 108
IS 1
BP 61
EP 66
PG 6
WC Rehabilitation
SC Rehabilitation
GA CA8QZ
UT WOS:000349187300007
ER
PT J
AU Rodrigues, DH
Rocha, NP
Sousa, LFD
Barbosa, IG
Kummer, A
Teixeira, AL
AF Rodrigues, David Henrique
Rocha, Natalia Pessoa
da Cunha Sousa, Larissa Fonseca
Barbosa, Izabela Guimaraes
Kummer, Arthur
Teixeira, Antonio Lucio
TI Circulating levels of neurotrophic factors in autism spectrum disorders
SO NEUROENDOCRINOLOGY LETTERS
LA English
DT Article
DE autism spectrum disorders; neurotrophins; neurotrophic factors; NT3;
NT4; GDNF; NGF; BDNF
ID OXIDATIVE STRESS; MENTAL-RETARDATION; BRAIN; PROTEIN; SERUM;
CONNECTIVITY; CHILDREN
AB OBJECTIVES: Evaluate the levels of a neurotrophic factor and some neurotrophins in the plasma of patients with Autism Spectrum Disorders (ASD).
DESIGN: This study enrolled 30 children with ASD and 19 healthy children. Plasma levels of the neurotrophins BDNF, NGF, NT3, NT4 and of the neurotrophic factor GDNF were measured by Enzyme-Linked Immunosorbent Assay.
SETTING: The etiopathogenesis of ASD is largely unknown, but it seems to involve dysfunction in several biological systems. One of these systems comprises the neurotrophic factors, which are molecules involved in many processes in the central nervous system, including neuronal survival, synaptogenesis and synaptic plasticity. Recent studies have shown association between neurotrophic factors and ASD.
RESULTS: No differences in plasma BDNF, NGF, NT3, NT4 and GDNF were found between ASD and control. Neurotrophic factors are not altered in ASD.
CONCLUSIONS: These molecules may play a minor role in ASD.
C1 [Rodrigues, David Henrique; Rocha, Natalia Pessoa; da Cunha Sousa, Larissa Fonseca; Barbosa, Izabela Guimaraes; Kummer, Arthur; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Sch Med, Interdisciplinary Lab Med Res, Belo Horizonte, MG, Brazil.
[Rodrigues, David Henrique] Univ Fed Juiz de Fora, Dept Hlth & Basic Sci, Juiz De Fora, MG, Brazil.
[Barbosa, Izabela Guimaraes; Teixeira, Antonio Lucio] Univ Fed Minas Gerais, Univ Hosp, Div Neurol, Neuropsychiat Branch, Belo Horizonte, MG, Brazil.
[Kummer, Arthur] Univ Fed Minas Gerais, Sch Med, Dept Mental Hlth, Belo Horizonte, MG, Brazil.
RP Rodrigues, DH (reprint author), Univ Fed Minas Gerais, Sch Med, Interdisciplinary Lab Med Res, Belo Horizonte, MG, Brazil.
EM dhenrodrigues@gmail.com
FU CAPES
FX This work was supported by CAPES. We would like to thank Makelly Kezia
Brum Ribeiro for the technical assistance.
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NR 25
TC 0
Z9 0
PU MAGHIRA & MAAS PUBLICATIONS
PI STOCKHOLM
PA PO BOX 26132, S-100 41 STOCKHOLM, SWEDEN
SN 0172-780X
J9 NEUROENDOCRINOL LETT
JI Neuroendocrinol. Lett.
PY 2014
VL 35
IS 5
BP 380
EP 384
PG 5
WC Endocrinology & Metabolism; Neurosciences
SC Endocrinology & Metabolism; Neurosciences & Neurology
GA CB1JQ
UT WOS:000349383900009
PM 25275256
ER
PT J
AU Stampoltzis, A
Defingou, G
Antonopoulou, K
Kouvava, S
Polychronopoulou, S
AF Stampoltzis, Aglaia
Defingou, Georgia
Antonopoulou, Katerina
Kouvava, Sofia
Polychronopoulou, Stavroula
TI Psycho-social characteristics of children and adolescents with siblings
on the autistic spectrum
SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION
LA English
DT Article
DE siblings with autism; psycho-social adaptation; sibling relationships;
ASDs and siblings
ID DEVELOPMENTAL-DISABILITIES; BEHAVIORAL-ADJUSTMENT; INTELLECTUAL
DISABILITY; DISORDERS; BROTHERS; SISTERS; COEFFICIENTS; EXPERIENCES
AB This study investigates the psycho-social characteristics of typically developing children who have siblings with autism and their sibling relationship. Children's adjustment at school, their self-esteem and social relations, as well as their friends' attitudes towards their autistic siblings were examined. Participants were 22 siblings of children with autism, aged 8-18 years, 22 mothers and 22 fathers. Parents provided demographic information, and completed the Strengths and Difficulties Questionnaire and the Sibling Inventory of Behaviour. Data from siblings of children with autism were based on a semi-structured interview, the Self-Perception Profile for Children and Adolescents and the Siblings Problems Questionnaire. Only few typically developing siblings of children with autism exhibit emotional and behavioural difficulties. The majority of them have a good relationship with their autistic brother or sister, although they mentioned changes in their daily routines. They also seem not to be satisfied in terms of peer acceptance skills and friendships. In addition, the results of the present study provide evidence for positive parental views on their typically developing children's emotional and behavioural adjustment. These findings are important and need to be taken into account in order to assess functioning of all family members in families with autism spectrum children.
C1 [Stampoltzis, Aglaia] Sch Pedag & Technol Educ ASPETE, Athens, Greece.
[Defingou, Georgia; Polychronopoulou, Stavroula] Univ Athens, Fac Primary Educ, Athens, Greece.
[Antonopoulou, Katerina] Harokopio Univ, Dept Home Econ & Ecol, Athens, Greece.
[Kouvava, Sofia] 4th Local Educ Author Athens, Athens, Greece.
RP Stampoltzis, A (reprint author), Sch Pedag & Technol Educ ASPETE, Athens, Greece.
EM lstamp@ambio.gr
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NR 52
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0885-6257
EI 1469-591X
J9 EUR J SPEC NEEDS EDU
JI Eur. J. Spec. Needs Educ.
PY 2014
VL 29
IS 4
BP 474
EP 490
DI 10.1080/08856257.2014.922811
PG 17
WC Education, Special
SC Education & Educational Research
GA AZ8ZH
UT WOS:000348500000004
ER
PT J
AU Griffith, GM
Barbakou, A
Hastings, RP
AF Griffith, G. M.
Barbakou, A.
Hastings, R. P.
TI Coping as a predictor of burnout and general health in therapists
working in ABA schools
SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION
LA English
DT Article
DE applied behaviour analysis; autism; therapist; staff; burnout
ID INTENSIVE BEHAVIORAL INTERVENTION; THERAPEUTIC SELF-EFFICACY;
DIRECT-CARE STAFF; INTELLECTUAL DISABILITY; PROCEDURAL FIDELITY;
SUPERVISOR SUPPORT; MINDFUL STAFF; CHILDREN; AUTISM; STRESS
AB Background: Little is known about the work-related well-being of applied behaviour analysis (ABA) therapists who work in school-based contexts and deliver ABA interventions to children with autism. Methods: A questionnaire on work-related stress (burnout), general distress, perceived supervisor support and coping was completed by 45 ABA therapists across six schools in the UK. Results: Around 42% of ABA therapists reported low levels of personal accomplishment at work, 13% reported high levels of emotional exhaustion and 40% met criteria for experiencing high levels of general distress. Wishful thinking coping was predictive of higher emotional exhaustion burnout and depersonalisation, and lower personal accomplishment. Conclusions: Given that a wishful thinking approach to coping may contribute to experiencing stress at work, it is important to consider support interventions for ABA therapists that may enhance their well-being. Mindfulness and acceptance-based strategies in particular may be relevant to the support of ABA therapist well-being.
C1 [Griffith, G. M.; Barbakou, A.] Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
[Hastings, R. P.] Univ Warwick, CEDAR, Warwick, England.
RP Griffith, GM (reprint author), Bangor Univ, Sch Psychol, Bangor, Gwynedd, Wales.
EM g.m.griffith@bangor.ac.uk
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NR 41
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0885-6257
EI 1469-591X
J9 EUR J SPEC NEEDS EDU
JI Eur. J. Spec. Needs Educ.
PY 2014
VL 29
IS 4
BP 548
EP 558
DI 10.1080/08856257.2014.952915
PG 11
WC Education, Special
SC Education & Educational Research
GA AZ8ZH
UT WOS:000348500000009
ER
PT J
AU Bradstreet, JJ
Sych, N
Antonucci, N
Klunnik, M
Ivankova, O
Matyashchuk, I
Demchuk, M
Siniscalco, D
AF Bradstreet, James Jeffiey
Sych, Nataliia
Antonucci, Nicola
Klunnik, Mariya
Ivankova, Olena
Matyashchuk, Irina
Demchuk, Mariya
Siniscalco, Dario
TI Efficacy of Fetal Stem Cell Transplantation in Autism Spectrum
Disorders: An Open-Labeled Pilot Study
SO CELL TRANSPLANTATION
LA English
DT Article
DE Autism; Fetal stem cells; Transplantation; Cell therapy; Biopharmacy
ID BLOOD MONONUCLEAR-CELLS; BONE-MARROW; CORD BLOOD; CHILDREN; ADULT
AB Autism spectrum disorders (ASDs) are heterogeneous complex neurodevelopmental pathologies defined by behavioral symptoms, but which have well-characterized genetic, immunological, and physiological comorbidities. Despite extensive research efforts, there are presently no agreed upon therapeutic approaches for either the core behaviors or the associated comorbidities. In particular, the known autoimmune disorders associated with autism are appealing targets for potential stem cell therapeutics. Of the various stem cell populations, fetal stem cells (FSCs) offer the potent immunoregulatory functions found in primordial mesenchymal stem cells, while exhibiting rapid expansion capacity and recognized plasticity. These properties enhance their potential for clinical use. Furthermore, FSCs are potent and implantable "biopharmacies" capable of delivering trophic signals to the host, which could influence brain development. This study investigated the safety and efficacy of FSC transplantations in treating children diagnosed with ASDs. Subjects were monitored at pre, and then 6 and 12 months following the transplantations, which consisted of two doses of intravenously and subcutaneously administered FSCs. The Autism Treatment Evaluation Checklist (ATEC) test and Aberrant Behavior Checklist (ABC) scores were performed. Laboratory examinations and clinical assessment of adverse effects were performed in order to evaluate treatment safety. No adverse events of significance were observed in ASD children treated with FSCs, including no transmitted infections or immunological complications. Statistically significant differences (p < 0.05) were shown on ATEC/ABC scores for the domains of speech, sociability, sensory, and overall health, as well as reductions in the total scores when compared to pretreatment values. We recognize that the use of FSCs remains controversial for the present. The results of this study, however, warrant additional investigations into the mechanisms of cell therapies for ASDs, while prompting the exploration of FSCs as "biopharmacies" capable of manufacturing the full array of cell-signaling chemistry. This manuscript is published as part of the International Association of Neurorestoratology (IANR) special issue of Cell Transplantation.
C1 [Bradstreet, James Jeffiey] Int Child Dev Resource Ctr, Chateau Elan, GA USA.
[Sych, Nataliia; Klunnik, Mariya; Ivankova, Olena; Matyashchuk, Irina; Demchuk, Mariya] Cell Therapy Ctr EmCell, Clin Dept, Kiev, Ukraine.
[Antonucci, Nicola; Siniscalco, Dario] Biomed Ctr Autism Res & Treatment, Bari, Italy.
[Siniscalco, Dario] Ctr Autism La Forza Silenzio, Caserta, Italy.
[Siniscalco, Dario] Cancellautismo Nonprofit Assoc Autism Care, Florence, Italy.
RP Siniscalco, D (reprint author), Univ Naples 2, Dept Expt Med, Via S Maria Costantinopoli 16, I-80138 Naples, Italy.
EM dariosin@uab.edu
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NR 34
TC 0
Z9 0
PU COGNIZANT COMMUNICATION CORP
PI PUTNAM VALLEY
PA 18 PEEKSKILL HOLLOW RD, PO BOX 37, PUTNAM VALLEY, NY 10579 USA
SN 0963-6897
EI 1555-3892
J9 CELL TRANSPLANT
JI Cell Transplant.
PY 2014
VL 23
SU 1
BP S105
EP S112
DI 10.3727/096368914X684916
PG 8
WC Cell & Tissue Engineering; Medicine, Research & Experimental;
Transplantation
SC Cell Biology; Research & Experimental Medicine; Transplantation
GA AY9KT
UT WOS:000347869500012
PM 25302490
ER
PT J
AU Akins, RS
Krakowiak, P
Angkustsiri, K
Hertz-Picciotto, I
Hansen, RL
AF Akins, Roger S.
Krakowiak, Paula
Angkustsiri, Kathleen
Hertz-Picciotto, Irva
Hansen, Robin L.
TI Utilization Patterns of Conventional and Complementary/Alternative
Treatments in Children with Autism Spectrum Disorders and Developmental
Disabilities in a Population-Based Study
SO JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
LA English
DT Article
DE autism; developmental delay; complementary and alternative medicine;
gluten-free; casein-free diet; chelation; dietary supplements
ID PSYCHOTROPIC MEDICATION USE; ALTERNATIVE MEDICINE; CEREBRAL-PALSY;
MANAGEMENT; DIAGNOSIS; THERAPIES; FAMILIES; STATE
AB Objective: To compare the utilization of conventional treatments and utilization of complementary and alternative medicine in preschoolers with autism spectrum disorders (ASD) and other developmental disabilities (DD). Methods: Participants were 578 children who were part of an ongoing population-based, case-control study of 2- to 5-year olds with ASD, DD, and the general population. Parents completed an interview on past and current services. Results: Four hundred fifty-three children with ASD and 125 DD children were included. ASD families received more hours of conventional services compared with DD families (17.8 vs 11; p < .001). The use of psychotropic medications was low in both groups (approximately 3%). Overall, complementary and alternative medicine (CAM) use was not significantly different in ASD (39%) versus DD (30%). Hispanic families in both groups used CAM less often than non-Hispanic families. Variables such as level of function, immunization status, and the presence of an identified neurogenetic disorder were not predictive of CAM use. A higher level of parental education was associated with an increased CAM use in ASD and DD. Families who used >20 hours per week of conventional services were more likely to use CAM, including potentially unsafe or disproven CAM. Underimmunized children were marginally more likely to use CAM but not more likely to have received potentially unsafe or disproven CAM. Conclusion: Use of CAM is common in families of young children with neurodevelopmental disorders, and it is predicted by higher parental education and non-Hispanic ethnicity but not developmental characteristics. Further research should address how health care providers can support families in making decisions about CAM use.
C1 [Akins, Roger S.; Angkustsiri, Kathleen; Hansen, Robin L.] Univ Calif Davis, Dept Pediat, Sch Med, Davis, CA 95616 USA.
[Akins, Roger S.; Krakowiak, Paula; Angkustsiri, Kathleen; Hertz-Picciotto, Irva; Hansen, Robin L.] Univ Calif Davis, MIND Med Invest Neurodev Disorders Inst, Davis, CA 95616 USA.
[Akins, Roger S.] Naval Med Ctr Portsmouth, Dept Pediat, Portsmouth, VA USA.
[Krakowiak, Paula] Univ Calif Davis, Dept Publ Hlth Sci, Sch Med, Div Epidemiol, Davis, CA 95616 USA.
[Krakowiak, Paula] Univ Calif Davis, Dept Publ Hlth Sci, Sch Med, Div Environm & Occupat Hlth, Davis, CA 95616 USA.
RP Hansen, RL (reprint author), Univ Calif Davis, Dept Pediat, 2825 50th St, Sacramento, CA 95817 USA.
EM robin.hansen@ucdmc.ucdavis.edu
FU National Institute of Environmental Health Sciences [R01 ES015359, P01
ES11269]; U.S. Environmental Protection Agency through Science to
Achieve Results (STAR) program [R833292, R829388]; UC Davis MIND
Institute, University of California, Davis
FX Supported by the National Institute of Environmental Health Sciences
(R01 ES015359, P01 ES11269), the U.S. Environmental Protection Agency
through the Science to Achieve Results (STAR) program (R833292 and
R829388), and the UC Davis MIND Institute, University of California,
Davis.
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Wong HHL, 2006, J AUTISM DEV DISORD, V36, P901, DOI 10.1007/s10803-006-0131-0
NR 41
TC 2
Z9 2
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 JAN
PY 2014
VL 35
IS 1
BP 1
EP 10
PG 10
WC Behavioral Sciences; Psychology, Developmental; Pediatrics
SC Behavioral Sciences; Psychology; Pediatrics
GA AZ4WQ
UT WOS:000348221600001
PM 24399100
ER
PT J
AU Rajaprakash, M
Chakravarty, MM
Lerch, JP
Rovet, J
AF Rajaprakash, Meghna
Chakravarty, M. Mallar
Lerch, Jason P.
Rovet, Joanne
TI Cortical morphology in children with alcohol-related neurodevelopmental
disorder
SO BRAIN AND BEHAVIOR
LA English
DT Article
DE ARND; cortical thickness; MRI; surface area
ID HUMAN CEREBRAL-CORTEX; AUTISM SPECTRUM DISORDER; SUPERIOR TEMPORAL
GYRUS; ATTENTION-DEFICIT; MAGNETIC-RESONANCE; VISUAL-ATTENTION;
CORPUS-CALLOSUM; MRI DATA; FETAL; BRAIN
AB Introduction: It is well established that individuals exposed to alcohol in utero have reduced cortical grey matter volumes. However, the candidate determinants of these reductions, cortical thickness (CT) and surface area (SA), have not been investigated exclusively in alcohol-related neurodevelopmental disorder (ARND), the most prevalent fetal alcohol spectrum disorder subgroup that lacks the characteristic facial dysmorphology. Methods: T1-weighted magnetic resonance imaging scans were obtained from 88 participants (8-16 years), 36 diagnosed with ARND and 52 typically developing controls. Scans were submitted to the CIVET pipeline (version 1.1.10). Deformable models were used to construct the inner white matter surfaces and pial surfaces from which CT and SA measures were derived. Group differences in cortical volume, CT, and SA were computed using a general linear model covaried for age, sex, and handedness. Results: Global cortical volume reductions in ARND did not reflect CT, which did not differ between groups. Instead, volume decreases were consistent with global SA reductions in bilateral frontal and temporal as well as right occipital regions. Local reductions in SA were observed in the right superior temporal gyrus and the right occipital-temporal region. Conclusion: Results suggest that in ARND, prenatal alcohol exposure perturbs global SA to a greater degree than CT, particularly in the right temporal lobe.
C1 [Rajaprakash, Meghna; Lerch, Jason P.; Rovet, Joanne] Hosp Sick Children, Neurosci & Mental Hlth Program, Toronto, ON M5G 1X8, Canada.
[Rajaprakash, Meghna; Rovet, Joanne] Univ Toronto, Fac Med, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Dept Psychiat, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Univ Toronto, Inst Biomat & Biomed Engn, Toronto, ON, Canada.
[Chakravarty, M. Mallar] Ctr Addict & Mental Hlth, Res Imaging Ctr, Kimel Family Imaging Genet Res Lab, Toronto, ON, Canada.
[Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada.
RP Rovet, J (reprint author), Hosp Sick Children, Neurosci & Mental Hlth Program, 555 Univ Ave, Toronto, ON M5G 1X8, Canada.
EM joanne.rovet@sickkids.ca
FU Canadian Institutes of Health Research [200810MOP-203919,
101009MOP-229653, NET-54014]; Hospital for Sick Children RESTRACOMP
studentship
FX This study was supported by the Canadian Institutes of Health Research
(200810MOP-203919, 101009MOP-229653, and NET-54014); Hospital for Sick
Children RESTRACOMP studentship.
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NR 78
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 JAN
PY 2014
VL 4
IS 1
BP 41
EP 50
DI 10.1002/brb3.191
PG 10
WC Behavioral Sciences; Neurosciences
SC Behavioral Sciences; Neurosciences & Neurology
GA AX5NF
UT WOS:000346972600006
PM 24653953
ER
PT J
AU Schaap-Jonker, H
Corveleyn, JMT
AF Schaap-Jonker, Hanneke
Corveleyn, Jozef M. T.
TI Mentalizing and Religion A Promising Combination for Psychology of
Religion, Illustrated by the Case of Prayer
SO ARCHIVE FOR THE PSYCHOLOGY OF RELIGION-ARCHIV FUR RELIGIONSPSYCHOLOGIE
LA English
DT Article
DE mentalizing; mentalization; social cognition; prayer; psychology of
religion
ID BORDERLINE PERSONALITY-DISORDER; EMOTION REGULATION; SOCIAL COGNITION;
LATE-LIFE; MIND; NEUROSCIENCE; AUTISM; ADULTS
AB Mentalizing is an important actual topic, both in psychodynamic theory and in clinical practice. Remarkably, mentalizing has been explicitly related to religion or psychology of religion only to a limited extent. This article explores the relevance of the concept of mentalizing for psychology of religion by first describing mentalizing, its development, and neuropsychological underpinnings. Second, to illustrate how the concept gives more insight into the psychology of religious phenomena, mentalizing is related to an almost universal religious practice, namely religious prayer. Empirical studies from different psychological subdisciplines are interpreted from the perspective of mentalizing. Finally, its relevance for the discipline of psychology of religion is discussed. In this way, the potential of the concept as both an explaining psychological mechanism and a bridging notion that overcomes differences between psychological subdisciplines is demonstrated.
C1 [Schaap-Jonker, Hanneke] Univ Groningen, Fac Theol & Religious Studies, Groningen, Netherlands.
[Schaap-Jonker, Hanneke] Eleos De Hoop Inst Mental Hlth Care, Ctr Christian Mental Hlth Care, Amersfoort, Netherlands.
[Corveleyn, Jozef M. T.] Katholieke Univ Leuven, Dept Psychol, Leuven, Belgium.
RP Schaap-Jonker, H (reprint author), Univ Groningen, Fac Theol & Religious Studies, Groningen, Netherlands.
EM j.schaap-jonker@rug.nl
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NR 73
TC 0
Z9 0
PU BRILL ACADEMIC PUBLISHERS
PI LEIDEN
PA PLANTIJNSTRAAT 2, P O BOX 9000, 2300 PA LEIDEN, NETHERLANDS
SN 0084-6724
EI 1573-6121
J9 ARCH PSYCHOL RELIG
JI Arch. Psychol. Relig.
PY 2014
VL 36
IS 3
BP 303
EP 322
DI 10.1163/15736121-12341292
PG 20
WC Psychology, Multidisciplinary; Religion
SC Psychology; Religion
GA AW4BJ
UT WOS:000346226200002
ER
PT J
AU Lefter, R
Cojocaru, D
Ciobica, A
Paulet, IM
Serban, IL
Anton, E
AF Lefter, Radu
Cojocaru, Dumitru
Ciobica, Alin
Paulet, Ioan Manuel
Serban, Ionela Lacramioara
Anton, Emil
TI ASPECTS OF ANIMAL MODELS FOR MAJOR NEUROPSYCHIATRIC DISORDERS
SO ARCHIVES OF BIOLOGICAL SCIENCES
LA English
DT Article
DE animal models; neuropsychiatric disorders
ID OXIDATIVE STRESS STATUS; INDUCED MEMORY IMPAIRMENT; PARKINSONS-DISEASE;
SCHIZOPHRENIA; RAT; BRAIN; SYSTEM; DEPRESSION; PHENCYCLIDINE;
ANTAGONIZES
AB We will review the main animal models for the major neuropsychiatric disorders, focusing on schizophrenia, Alzheimer's disease, Parkinson's disease, depression, anxiety and autism. Although these mental disorders are specifically human pathologies and therefore impossible to perfectly replicate in animals, the use of experimental animals is based on the physiological and anatomical similarities between humans and animals such as the rat, and mouse, and on the fact that 99% of human and murine genomes are shared. Pathological conditions in animals can be assessed by manipulating the metabolism of neurotransmitters, through various behavioral tests, and by determining biochemical parameters that can serve as important markers of disorders.
C1 [Lefter, Radu; Cojocaru, Dumitru; Ciobica, Alin; Paulet, Ioan Manuel] Alexandru Ioan Cuza Univ, Iasi 700506, Romania.
[Cojocaru, Dumitru] Acad Romana, Ctr Biomed Res, Iasi Branch, Bucharest, Romania.
[Serban, Ionela Lacramioara; Anton, Emil] Gr T Popa Univ Med & Pharm, Iasi 700115, Romania.
RP Lefter, R (reprint author), Alexandru Ioan Cuza Univ, Bd Carol 1,11, Iasi 700506, Romania.
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NR 44
TC 0
Z9 0
PU INST BIOLOSKA ISTRAZIVANJA SINISA STANKOVIC
PI BEOGRAD
PA 29 NOVEMBRA 142, BEOGRAD, 11060, SERBIA
SN 0354-4664
EI 1821-4339
J9 ARCH BIOL SCI
JI Arch. Biol. Sci.
PY 2014
VL 66
IS 3
BP 1105
EP 1115
DI 10.2298/ABS1403105L
PG 11
WC Biology
SC Life Sciences & Biomedicine - Other Topics
GA AW7YG
UT WOS:000346476900019
ER
PT J
AU Sahlin, E
Gustavsson, P
Lieden, A
Papadogiannakis, N
Bjareborn, L
Pettersson, K
Nordenskjold, M
Iwarsson, E
AF Sahlin, Ellika
Gustavsson, Peter
Lieden, Agne
Papadogiannakis, Nikos
Bjareborn, Linus
Pettersson, Karin
Nordenskjold, Magnus
Iwarsson, Erik
TI Molecular and Cytogenetic Analysis in Stillbirth: Results from 481
Consecutive Cases
SO FETAL DIAGNOSIS AND THERAPY
LA English
DT Article
DE Chromosomal abnormalities; Comparative genomic hybridization;
Cytogenetics; Fetal karyotype; Intrauterine death; Maternal age;
Quantitative fluorescent-polymerase chain reaction
ID COPY NUMBER VARIATION; MATERNAL AGE; RISK; PREGNANCY; ASSOCIATION;
POPULATION; RECURRENCE; MICROARRAY; AUTISM; DEATH
AB Introduction: The underlying causes of stillbirth are heterogeneous and in many cases unexplained. Our aim was to conclude clinical results from karyotype and quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis of all stillbirths occurring in Stockholm County between 2008 and 2012. By screening a subset of cases, we aimed to study the possible benefits of chromosomal microarray (CMA) in the analysis of the etiology of stillbirth. Methods: During 2008-2012, 481 stillbirths in Stockholm County were investigated according to a clinical protocol including karyotype or QF-PCR analysis. CMA screening was performed on a subset of 90 cases, corresponding to all stillbirths from 2010 without a genetic diagnosis. Results: Chromosomal aberrations were detected by karyotype or QF-PCR analysis in 7.5% of the stillbirths. CMA analysis additionally identified two known syndromes, one aberration disrupting a known disease gene, and 26 variants of unknown significance. Furthermore, CMA had a significantly higher success rate than karyotyping (100 vs. 80%, p < 0.001). Discussion: In the analysis of stillbirth, conventional karyotyping is prone to failure, and QF-PCR is a useful complement. We show that CMA has a higher success rate and aberration detection frequency than these methods, and conclude that CMA is a valuable tool for identification of chromosomal aberrations in stillbirth. (C) 2014 S. Karger AG, Basel.
C1 [Sahlin, Ellika; Gustavsson, Peter; Lieden, Agne; Bjareborn, Linus; Nordenskjold, Magnus; Iwarsson, Erik] Karolinska Univ Hosp, Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.
[Sahlin, Ellika; Gustavsson, Peter; Lieden, Agne; Bjareborn, Linus; Nordenskjold, Magnus; Iwarsson, Erik] Karolinska Univ Hosp, Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.
[Papadogiannakis, Nikos] Karolinska Univ Hosp, Ctr Perinatal Pathol, Huddinge, Sweden.
[Papadogiannakis, Nikos] Karolinska Univ Hosp, Dept Pathol, Huddinge, Sweden.
[Pettersson, Karin] Karolinska Univ Hosp, Dept Obstet & Gynecol, Huddinge, Sweden.
[Pettersson, Karin] Karolinska Inst, Stockholm, Sweden.
RP Sahlin, E (reprint author), Karolinska Univ Hosp, Karolinska Inst, Dept Mol Med & Surg, CMM L8 02, SE-17176 Stockholm, Sweden.
EM ellika.sahlin@ki.se
FU Swedish Research Council and Stockholm County Council
FX We are grateful for the financial support with grants from The Swedish
Research Council and Stockholm County Council.
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NR 27
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1015-3837
EI 1421-9964
J9 FETAL DIAGN THER
JI Fetal Diagn. Ther.
PY 2014
VL 36
IS 4
BP 326
EP 332
DI 10.1159/000361017
PG 7
WC Obstetrics & Gynecology
SC Obstetrics & Gynecology
GA AW4FP
UT WOS:000346236900010
PM 25059832
ER
PT J
AU Westby, CE
AF Westby, Carol E.
TI Social Neuroscience and Theory of Mind
SO FOLIA PHONIATRICA ET LOGOPAEDICA
LA English
DT Article
DE Social neuroscience; Theory of mind; Empathy; Social communication
disorders; Epigenetics
ID AUTISM SPECTRUM DISORDERS; TRAUMATIC BRAIN-INJURY; ORBITOFRONTAL CORTEX;
LANGUAGE IMPAIRMENT; CHILDREN; EMPATHY; PERCEPTION; COGNITION; SELF;
RECOGNITION
AB Background: The role of theory of mind (ToM) in autism spectrum disorders and other communication impairments has been an active area of research in the last 30 years. Advances in neuroimaging in the last 10 years have led to the rise of the field of social neuroscience, which has markedly increased the understanding of the neurophysiological/neuroanatomical and neurochemical nature of ToM functioning and deficits in typically developing individuals and in children and adults with a variety of social and communication impairments. Objective: The goal of this paper is to (a) describe the current concepts of ToM based on neuroscience research, and (b) present a framework for the dimensions of ToM that have been identified, which can be used to guide assessment and intervention for persons with deficits in ToM that affect social interactions. Summary: This article presents neuroscience research that has documented the neurophysiological/neuroanatomical bases for cognitive and affective ToM and interpersonal and intrapersonal ToM as well as neurochemical and epigenetic influences on ToM. This information provides an important framework for assessing ToM deficits in persons with social and communication impairments and developing interventions that target the specific dimensions of ToM deficits. (C) 2014 S. Karger AG, Basel
C1 [Westby, Carol E.] Bilingual Multicultural Serv, Albuquerque, NM USA.
[Westby, Carol E.] Brigham Young Univ, Provo, UT 84602 USA.
RP Westby, CE (reprint author), 1808 Princeton NE, Albuquerque, NM 87106 USA.
EM mocha@unm.edu
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NR 90
TC 1
Z9 1
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1021-7762
EI 1421-9972
J9 FOLIA PHONIATR LOGO
JI Folia Phoniatr. Logop.
PY 2014
VL 66
IS 1-2
BP 7
EP 17
DI 10.1159/000362877
PG 11
WC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
SC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
GA AW4FT
UT WOS:000346237400002
PM 25472788
ER
PT J
AU Vogindroukas, I
Chelas, EN
Petridis, NE
AF Vogindroukas, Ioannis
Chelas, Evripidis-Nikolaos
Petridis, Nikolaos E.
TI Reading the Mind in the Eyes Test (Children's Version): A Comparison
Study between Children with Typical Development, Children with
High-Functioning Autism and Typically Developed Adults
SO FOLIA PHONIATRICA ET LOGOPAEDICA
LA English
DT Article
DE Reading the Mind in the Eyes Test; Children; Autism; high-functioning;
Typical development
ID ASPERGER-SYNDROME; INDIVIDUALS; LANGUAGE
AB Background/Aims: One of psychology's challenges is to develop and evaluate sensitive tests in the area of social cognition. Yet, there are few available scales that can measure mild deficits in social understanding, especially for typically developing (TD) populations. The Reading the Mind in the Eyes Test (children's version) was translated and adapted for use in the Greek language [RMET-G (child)]. The aim of this study was to examine in the Greek language the qualitative and quantitative differences between TD youngsters and those with high-functioning autism (HFA), as well as the difference between TD children and TD adults. Methods: An interview-based psychometric study was conducted. Participants completed the RMET-G (child), constituting 3 groups: TD children older than 8 years, children with HFA and TD adults. Results: 103 participants completed the study. The results demonstrated that TD adults scored slightly higher than TD children, and children with HFA scored lower than their TD peers. Children with HFA, however, were able to recognize many of the pictures shown in the test. Conclusion: The results of this study, which were the first to be conducted in the Greek language, confirm findings of other studies in the literature conducted with the RMET in the English language. (C) 2014 S. Karger AG, Basel
C1 [Vogindroukas, Ioannis; Chelas, Evripidis-Nikolaos; Petridis, Nikolaos E.] Psychiat Hosp Thessaloniki, Medicopedag Ctr Northern Greece, GR-54627 Thessaloniki, Greece.
RP Vogindroukas, I (reprint author), Psychiat Hosp Thessaloniki, Medicopedag Ctr Northern Greece, Giannitson 52, GR-54627 Thessaloniki, Greece.
EM ioannisvogindroukas@gmail.com
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NR 20
TC 1
Z9 1
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1021-7762
EI 1421-9972
J9 FOLIA PHONIATR LOGO
JI Folia Phoniatr. Logop.
PY 2014
VL 66
IS 1-2
BP 18
EP 24
DI 10.1159/000363697
PG 7
WC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
SC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
GA AW4FT
UT WOS:000346237400003
PM 25472789
ER
PT J
AU Segal, O
Kaplan, D
Patael, S
Kishon-Rabin, L
AF Segal, Osnat
Kaplan, Dafna
Patael, Smadar
Kishon-Rabin, Liat
TI Judging Emotions in Lexical-Prosodic Congruent and Incongruent Speech
Stimuli by Adolescents in the Autism Spectrum
SO FOLIA PHONIATRICA ET LOGOPAEDICA
LA English
DT Article
DE Emotions; Speech stimuli; Autism spectrum
ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; CHILDREN; LANGUAGE;
DISORDERS; ADULTS; VOICE; MIND; RECOGNITION; ABILITIES
AB Objective: The purpose of the present study was to assess how adolescents with autism who vary in the severity of autistic characteristics judge the emotional state of the speaker when lexical and prosodic information is congruent or incongruent. Participants: Eighty participants, 24 autistic and 56 typically developing (TD) subjects participated: (a) 11 autistic adolescents between 9.5 and 16.83 years old, studying at general education settings (AA1), (b) 13 autistic adolescents between 15.91 and 20.33 years old, studying at a special school (AA2), and (c) 56 TD subjects between 6 and 29 years old. Listeners were required to judge the emotional meaning of words (sad/happy) in congruent conditions and incongruent conditions. Results: (a) All participants judged lexical and prosodic meaning separately with high accuracy, (b) all participants showed prolonged reaction times in the incongruent compared to the congruent condition, (c) AA1 relied on prosodic information in the incongruent condition similarly to TD 9-15 year olds and TD adults, (d) AA2 and TD 6-8 year olds did not rely on prosodic information in the incongruent condition, and (e) both education placements, the severity of autistic characteristics and nonverbal IQ contributed to prosodic judgment in the incongruent condition in autistic adolescents. Conclusions: The two groups of autistic adolescents processed both lexical and prosodic information in the incongruent condition. However, the severity of autistic characteristics influenced the preference for prosody. (C) 2014 S. Karger AG, Basel
C1 [Segal, Osnat; Kaplan, Dafna; Patael, Smadar; Kishon-Rabin, Liat] Tel Aviv Univ, Sackler Fac Med, Dept Commun Disorders, IL-69978 Tel Aviv, Israel.
RP Segal, O (reprint author), 7b Zelig Bas, Petah Tiqwa, Israel.
EM segalll@netvision.net.il
FU Sackler Faculty of Medicine, Tel Aviv University
FX The authors gratefully acknowledge the ASD students and the staff at
'Gil' school for their support and participation in this study. We would
also like to thank Adi Luber, Einat Beeri and Rommi Gan undergraduate
and graduate students at the Department of Communication Disorders, Tel
Aviv University, for their assistance with stimulus preparation and data
collection, and Mrs. Esther Shabtai for assistance with the statistical
analysis. This study was supported by the Fanny Fannister Award from the
Sackler Faculty of Medicine, Tel Aviv University.
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NR 59
TC 1
Z9 1
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 1021-7762
EI 1421-9972
J9 FOLIA PHONIATR LOGO
JI Folia Phoniatr. Logop.
PY 2014
VL 66
IS 1-2
BP 25
EP 36
DI 10.1159/000363739
PG 12
WC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
SC Audiology & Speech-Language Pathology; Otorhinolaryngology;
Rehabilitation
GA AW4FT
UT WOS:000346237400004
PM 25472790
ER
PT J
AU Forni, D
Pozzoli, U
Cagliani, R
Tresoldi, C
Menozzi, G
Riva, S
Guerini, FR
Comi, GP
Bolognesi, E
Bresolin, N
Clerici, M
Sironi, M
AF Forni, Diego
Pozzoli, Uberto
Cagliani, Rachele
Tresoldi, Claudia
Menozzi, Giorgia
Riva, Stefania
Guerini, Franca R.
Comi, Giacomo P.
Bolognesi, Elisabetta
Bresolin, Nereo
Clerici, Mario
Sironi, Manuela
TI Genetic adaptation of the human circadian clock to day-length
latitudinal variations and relevance for affective disorders
SO GENOME BIOLOGY
LA English
DT Article
ID SEASONAL AFFECTIVE-DISORDER; CELL-LINE PANEL; HUMAN GENOME; POLYMORPHISM
5-HTTLPR; ALLELE FREQUENCY; DEPRESSION; SELECTION; POPULATION; LIGHT;
PHOTOPERIOD
AB Background: The temporal coordination of biological processes into daily cycles is a common feature of most living organisms. In humans, disruption of circadian rhythms is commonly observed in psychiatric diseases, including schizophrenia, bipolar disorder, depression and autism. Light therapy is the most effective treatment for seasonal affective disorder and circadian-related treatments sustain antidepressant response in bipolar disorder patients. Day/night cycles represent a major circadian synchronizing signal and vary widely with latitude.
Results: We apply a geographically explicit model to show that out-of-Africa migration, which led humans to occupy a wide latitudinal area, affected the evolutionary history of circadian regulatory genes. The SNPs we identify using this model display consistent signals of natural selection using tests based on population genetic differentiation and haplotype homozygosity. Signals of natural selection driven by annual photoperiod variation are detected for schizophrenia, bipolar disorder, and restless leg syndrome risk variants, in line with the circadian component of these conditions.
Conclusions: Our results suggest that human populations adapted to life at different latitudes by tuning their circadian clock systems. This process also involves risk variants for neuropsychiatric conditions, suggesting possible genetic modulators for chronotherapies and candidates for interaction analysis with photoperiod-related environmental variables, such as season of birth, country of residence, shift-work or lifestyle habits.
C1 [Forni, Diego; Pozzoli, Uberto; Cagliani, Rachele; Tresoldi, Claudia; Menozzi, Giorgia; Riva, Stefania; Bresolin, Nereo; Sironi, Manuela] Sci Inst IRCCS E Medea, I-23842 Bosisio Parini, LC, Italy.
[Guerini, Franca R.; Bolognesi, Elisabetta; Clerici, Mario] Don C Gnocchi Fdn ONLUS, IRCCS, I-20148 Milan, Italy.
[Comi, Giacomo P.; Bresolin, Nereo] Univ Milan, Fdn Ca Granda IRCCS, Osped Maggiore Policlin, Dino Ferrari Ctr,Dept Physiopathol & Transplantat, I-20122 Milan, Italy.
[Clerici, Mario] Univ Milan, Dept Physiopathol & Transplantat, I-20090 Milan, Italy.
RP Sironi, M (reprint author), Sci Inst IRCCS E Medea, I-23842 Bosisio Parini, LC, Italy.
EM manuela.sironi@bp.lnf.it
FU Doctorate School of Molecular Medicine, University of Milan, Italy
FX DF is supported by a fellowship of the Doctorate School of Molecular
Medicine, University of Milan, Italy. 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 71
TC 0
Z9 0
PU BIOMED CENTRAL LTD
PI LONDON
PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
SN 1465-6906
EI 1474-760X
J9 GENOME BIOL
JI Genome Biol.
PY 2014
VL 15
IS 10
AR 499
DI 10.1186/s13059-014-0499-7
PG 17
WC Biotechnology & Applied Microbiology; Genetics & Heredity
SC Biotechnology & Applied Microbiology; Genetics & Heredity
GA AW9WH
UT WOS:000346605500021
PM 25358694
ER
PT J
AU Bruce, KM
Rrobinson, S
Smith, JA
Yelland, GW
AF Bruce, Kathryn M.
Rrobinson, Stephen
Smith, Julian A.
Yelland, Gregory W.
TI Validity of a screening tool for detecting subtle cognitive impairment
in the middle-aged and elderly
SO CLINICAL INTERVENTIONS IN AGING
LA English
DT Article
DE aging; mild cognitive impairment; neuropsychological test; Subtle
Cognitive Impairment Test; validation; reliability
ID HIGH-FUNCTIONING AUTISM; ALZHEIMERS-DISEASE; BRAIN-INJURY; TEST BATTERY;
RELIABILITY; MEMORY; TESTS; INDIVIDUALS; DECLINE; COMPLEX
AB The present study tested 121 middle-aged and elderly community- dwelling individuals on the computer- based Subtle Cognitive Impairment Test (SCIT) and compared their performance with that on several neuropsychological tests. The SCIT had excellent internal consistency, as demonstrated by a high split-half reliability measure (0.88-0.93). Performance on the SCIT was unaffected by the confounding factors of sex, education level, and mood state. Many participants demonstrated impaired performance on one or more of the neuropsychological tests (Controlled Oral Word Association Task, Rey Auditory and Verbal Learning Task, Grooved Pegboard [GP], Complex Figures). Performance on SCIT subtests correlated significantly with performance on many of the neuropsychological subtests, and the best and worst performing quartiles on the SCIT subtest discriminated between good and poor performers on other subtests, collectively indicating concurrent validity of the SCIT. Principal components analysis indicated that SCIT performance does not cluster with performance on most of the other cognitive tests, and instead is associated with decision-making efficacy, and processing speed and efficiency. Thus, the SCIT is responsive to the processes that underpin multiple cognitive domains, rather than being specific for a single domain. Since the SCIT is quick and easy to administer, and is well tolerated by the elderly, it may have utility as a screening tool for detecting cognitive impairment in middle-aged and elderly populations.
C1 [Bruce, Kathryn M.; Smith, Julian A.] Monash Univ, Dept Surg MMC, Clayton, Vic, Australia.
[Rrobinson, Stephen; Yelland, Gregory W.] RMIT Univ, Sch Hlth Sci, Bundoora, Vic 3083, Australia.
[Yelland, Gregory W.] Monash Univ, Alfred Hlth, Cent Clin Sch, Melbourne, Vic 3004, Australia.
RP Yelland, GW (reprint author), RMIT Univ, Sch Hlth Sci, POB 71, Bundoora, Vic 3083, Australia.
EM greg.yelland@rmit.edu.au
FU Australian Postgraduate Award; Australian and New Zealand Society of
Cardiac and Thoracic Surgeons
FX The Australian and New Zealand Society of Cardiac and Thoracic Surgeons
supported this work. KB was supported by an Australian Postgraduate
Award. The authors thank the participants for generously giving their
time to be involved in this study.
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NR 51
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1178-1998
J9 CLIN INTERV AGING
JI Clin. Interv. Aging
PY 2014
VL 9
BP 2165
EP 2176
DI 10.2147/CIA.S68363
PG 12
WC Geriatrics & Gerontology
SC Geriatrics & Gerontology
GA AW6AZ
UT WOS:000346353200001
PM 25540581
ER
PT S
AU Wall, R
Cryan, JF
Ross, RP
Fitzgerald, GF
Dinan, TG
Stanton, C
AF Wall, Rebecca
Cryan, John F.
Ross, R. Paul
Fitzgerald, Gerald F.
Dinan, Timothy G.
Stanton, Catherine
BE Lyte, M
Cryan, JF
TI Bacterial Neuroactive Compounds Produced by Psychobiotics
SO MICROBIAL ENDOCRINOLOGY: THE MICROBIOTA-GUT-BRAIN AXIS IN HEALTH AND
DISEASE
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
ID CONJUGATED LINOLEIC-ACID; GAMMA-AMINOBUTYRIC-ACID; CHAIN FATTY-ACIDS;
AUTISM SPECTRUM DISORDERS; PROTEIN-COUPLED RECEPTOR; INDUCED OBESE MICE;
GUT MICROBIOTA; INDOLE-3-PROPIONIC ACID; PROPIONIC-ACID;
LACTOBACILLUS-BREVIS
AB We recently coined the phrase 'psychobiotics' to describe an emerging class of probiotics of relevance to psychiatry [Dinan et al., Biol Psychiatry 2013;74 (10):720-726]. Such "mind-altering" probiotics may act via their ability to produce various biologically active compounds, such as peptides and mediators normally associated with mammalian neurotransmission. Several molecules with neuroactive functions such as gamma-aminobutyric acid (GABA), serotonin, catecholamines and acetylcholine have been reported to be microbially-derived, many of which have been isolated from bacteria within the human gut. Secreted neurotransmitters from bacteria in the intestinal lumen may induce epithelial cells to release molecules that in turn modulate neural signalling within the enteric nervous system and consequently signal brain function and behaviour of the host. Consequently, neurochemical containing/producing probiotic bacteria may be viewed as delivery vehicles for neuroactive compounds and as such, probiotic bacteria may possibly have the potential as a therapeutic strategy in the prevention and/or treatment of certain neurological and neurophysiological conditions.
C1 [Wall, Rebecca; Ross, R. Paul; Stanton, Catherine] Teagasc Moorepk Food Res Ctr, Alimentary Pharmabiot Ctr, Cork, Ireland.
[Cryan, John F.] Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
[Fitzgerald, Gerald F.] Natl Univ Ireland Univ Coll Cork, Microbiol & Alimentary Pharmabiot Ctr, Cork, Ireland.
[Dinan, Timothy G.] Natl Univ Ireland Univ Coll Cork, Dinan, Cork, Ireland.
RP Stanton, C (reprint author), Teagasc Moorepk Food Res Ctr, Alimentary Pharmabiot Ctr, Cork, Ireland.
EM j.cryan@ucc.ie; Catherine.stanton@teagasc.ie
RI Stanton, Catherine/A-9549-2015; Ross, reynolds/A-7584-2015
OI Ross, reynolds/0000-0003-4876-8839
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NR 135
TC 4
Z9 4
PU SPRINGER
PI NEW YORK
PA 233 SPRING STREET, NEW YORK, NY 10013, UNITED STATES
SN 0065-2598
BN 978-1-4939-0897-4; 978-1-4939-0896-7
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 817
BP 221
EP 239
DI 10.1007/978-1-4939-0897-4_10
D2 10.1007/978-1-4939-0897-4
PG 19
WC Endocrinology & Metabolism; Medicine, Research & Experimental;
Microbiology
SC Endocrinology & Metabolism; Research & Experimental Medicine;
Microbiology
GA BB7TN
UT WOS:000345993500012
PM 24997036
ER
PT S
AU Rook, GAW
Raison, CL
Lowry, CA
AF Rook, Graham A. W.
Raison, Charles L.
Lowry, Christopher A.
BE Lyte, M
Cryan, JF
TI Microbiota, Immunoregulatory Old Friends and Psychiatric Disorders
SO MICROBIAL ENDOCRINOLOGY: THE MICROBIOTA-GUT-BRAIN AXIS IN HEALTH AND
DISEASE
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
ID INFLAMMATORY-BOWEL-DISEASE; AUTISM SPECTRUM DISORDERS; DENDRITIC
CELL-FUNCTION; REGULATORY B-CELLS; C-REACTIVE PROTEIN; EARLY-LIFE
STRESS; MULTIPLE-SCLEROSIS; GUT MICROBIOTA; IMMUNE-RESPONSES;
INTERFERON-ALPHA
AB Regulation of the immune system is an important function of the gut microbiota. Increasing evidence suggests that modern living conditions cause the gut microbiota to deviate from the form it took during human evolution. Contributing factors include loss of helminth infections, encountering less microbial biodiversity, and modulation of the microbiota composition by diet and antibiotic use. Thus the gut microbiota is a major mediator of the hygiene hypothesis (or as we prefer, "Old Friends" mechanism), which describes the role of organisms with which we co-evolved, and that needed to be tolerated, as crucial inducers of immuno-regulation. At least partly as a consequence of reduced exposure to immunoregulatory Old Friends, many but not all of which resided in the gut, high-income countries are undergoing large increases in a wide range of chronic inflammatory disorders including allergies, autoimmunity and inflammatory bowel diseases. Depression, anxiety and reduced stress resilience are comorbid with these conditions, or can occur in individuals with persistently raised circulating levels of biomarkers of inflammation in the absence of clinically apparent peripheral inflammatory disease. Moreover poorly regulated inflammation during pregnancy might contribute to brain developmental abnormalities that underlie some cases of autism spectrum disorders and schizophrenia. In this chapter we explain how the gut microbiota drives immunoregulation, how faulty immunoregulation and inflammation predispose to psychiatric disease, and how psychological stress drives further inflammation via pathways that involve the gut and microbiota. We also outline how this two-way relationship between the brain and inflammation implicates the microbiota, Old Friends and immunoregulation in the control of stress resilience.
C1 [Rook, Graham A. W.] UCL, Ctr Clin Microbiol, London NW3 2PF, England.
[Raison, Charles L.] Univ Arizona, Coll Med, Dept Psychiat, Tucson, AZ USA.
[Raison, Charles L.] Univ Arizona, Coll Agr & Life Sci, Norton Sch Family & Consumer Sci, Tucson, AZ USA.
[Lowry, Christopher A.] Univ Colorado, Dept Integrat Physiol, Boulder, CO 80309 USA.
[Lowry, Christopher A.] Univ Colorado, Ctr Neurosci, Boulder, CO 80309 USA.
RP Rook, GAW (reprint author), UCL, Ctr Clin Microbiol, Royal Free Campus,Rowland Hill St, London NW3 2PF, England.
EM g.rook@ucl.ac.uk
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NR 220
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING STREET, NEW YORK, NY 10013, UNITED STATES
SN 0065-2598
BN 978-1-4939-0897-4; 978-1-4939-0896-7
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 817
BP 319
EP 356
DI 10.1007/978-1-4939-0897-4_15
D2 10.1007/978-1-4939-0897-4
PG 38
WC Endocrinology & Metabolism; Medicine, Research & Experimental;
Microbiology
SC Endocrinology & Metabolism; Research & Experimental Medicine;
Microbiology
GA BB7TN
UT WOS:000345993500017
PM 24997041
ER
PT S
AU Borre, YE
Moloney, RD
Clarke, G
Dinan, TG
Cryan, JF
AF Borre, Yuliya E.
Moloney, Rachel D.
Clarke, Gerard
Dinan, Timothy G.
Cryan, John F.
BE Lyte, M
Cryan, JF
TI The Impact of Microbiota on Brain and Behavior: Mechanisms & Therapeutic
Potential
SO MICROBIAL ENDOCRINOLOGY: THE MICROBIOTA-GUT-BRAIN AXIS IN HEALTH AND
DISEASE
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
ID IRRITABLE-BOWEL-SYNDROME; ANXIETY-LIKE BEHAVIOR; AUTISM SPECTRUM
DISORDERS; CENTRAL-NERVOUS-SYSTEM; POSTMYOCARDIAL INFARCTION DEPRESSION;
PROBIOTIC BIFIDOBACTERIUM-INFANTIS; GUT MICROBIOTA; INTESTINAL
MICROBIOTA; MATERNAL SEPARATION; FECAL MICROBIOTA
AB There is increasing evidence that host-microbe interactions play a key role in maintaining homeostasis. Alterations in gut microbial composition is associated with marked changes in behaviors relevant to mood, pain and cognition, establishing the critical importance of the bi-directional pathway of communication between the microbiota and the brain in health and disease. Dysfunction of the microbiome-brain-gut axis has been implicated in stress-related disorders such as depression, anxiety and irritable bowel syndrome and neurodevelopmental disorders such as autism. Bacterial colonization of the gut is central to postnatal development and maturation of key systems that have the capacity to influence central nervous system (CNS) programming and signaling, including the immune and endocrine systems. Moreover, there is now expanding evidence for the view that enteric microbiota plays a role in early programming and later response to acute and chronic stress. This view is supported by studies in germ-free mice and in animals exposed to pathogenic bacterial infections, probiotic agents or antibiotics. Although communication between gut microbiota and the CNS are not fully Delucidated, neural, hormonal, immune and metabolic pathways have been suggested. Thus, the concept of a microbiome-brain-gut axis is emerging, suggesting microbiota-modulating strategies may be a tractable therapeutic approach for developing novel treatments for CNS disorders.
C1 [Borre, Yuliya E.; Moloney, Rachel D.; Clarke, Gerard] Natl Univ Ireland Univ Coll Cork, Alimentary Pharmabiot Ctr, Lab NeuroGastroenterol, Cork, Ireland.
[Moloney, Rachel D.; Clarke, Gerard; Dinan, Timothy G.] Natl Univ Ireland Univ Coll Cork, Dept Psychiat, Cork, Ireland.
[Cryan, John F.] Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
RP Cryan, JF (reprint author), Natl Univ Ireland Univ Coll Cork, Dept Anat & Neurosci, Cork, Ireland.
EM j.cryan@ucc.ie
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NR 210
TC 2
Z9 2
PU SPRINGER
PI NEW YORK
PA 233 SPRING STREET, NEW YORK, NY 10013, UNITED STATES
SN 0065-2598
BN 978-1-4939-0897-4; 978-1-4939-0896-7
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 817
BP 373
EP 403
DI 10.1007/978-1-4939-0897-4_17
D2 10.1007/978-1-4939-0897-4
PG 31
WC Endocrinology & Metabolism; Medicine, Research & Experimental;
Microbiology
SC Endocrinology & Metabolism; Research & Experimental Medicine;
Microbiology
GA BB7TN
UT WOS:000345993500019
PM 24997043
ER
PT J
AU Shaw, CA
Li, D
Tomljenovic, L
AF Shaw, Christopher A.
Li, Dan
Tomljenovic, Lucija
TI Are there negative CNS impacts of aluminum adjuvants used in vaccines
and immunotherapy?
SO IMMUNOTHERAPY
LA English
DT Article
DE adjuvant; aluminum; autoimmunity; CNS; neurodegeneration; toxicity
ID CHRONIC-FATIGUE-SYNDROME; MILD COGNITIVE IMPAIRMENT; AUTISM SPECTRUM
DISORDERS; ALZHEIMERS-DISEASE; MACROPHAGIC MYOFASCIITIS; IN-VIVO;
PARENTERAL-NUTRITION; PRETERM INFANTS; RAT-BRAIN; NANOMOLAR ALUMINUM
AB In spite of a common view that aluminum (Al) salts are inert and therefore harmless as vaccine adjuvants or in immunotherapy, the reality is quite different. In the following article we briefly review the literature on Al neurotoxicity and the use of Al salts as vaccine adjuvants and consider not only direct toxic actions on the nervous system, but also the potential impact for triggering autoimmunity. Autoimmune and inflammatory responses affecting the CNS appear to underlie some forms of neurological disease, including developmental disorders. Al has been demonstrated to impact the CNS at every level, including by changing gene expression. These outcomes should raise concerns about the increasing use of Al salts as vaccine adjuvants and for the application as more general immune stimulants.
C1 [Shaw, Christopher A.; Li, Dan; Tomljenovic, Lucija] Neural Dynam Res Grp, Vancouver, BC V5Z 1L8, Canada.
RP Shaw, CA (reprint author), Neural Dynam Res Grp, 828 W 10th Ave, Vancouver, BC V5Z 1L8, Canada.
EM cashawlab@gmail.com
FU Dwoskin Family Foundation; Kaitlyn Fox Foundation; estate of Luther
Allyn Shourds Dean
FX The present work was supported by the Dwoskin Family Foundation, the
Kaitlyn Fox Foundation and the estate of Luther Allyn Shourds Dean. The
authors have no other relevant affiliations or financial involvement
with any organization or entity with a financial interest in or
financial conflict with the subject matter or materials discussed in the
manuscript apart from those disclosed.
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NR 172
TC 0
Z9 0
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1750-743X
EI 1750-7448
J9 IMMUNOTHERAPY-UK
JI Immunotherapy
PY 2014
VL 6
IS 10
BP 1055
EP 1071
DI 10.2217/IMT.14.81
PG 17
WC Immunology
SC Immunology
GA AU5LK
UT WOS:000345648300005
PM 25428645
ER
PT J
AU Brent, BK
Holt, DJ
Keshavan, MS
Seidman, LJ
Fonagy, P
AF Brent, Benjamin K.
Holt, Daphne J.
Keshavan, Matcheri S.
Seidman, Larry J.
Fonagy, Peter
TI Mentalization-based Treatment for Psychosis: Linking an Attachment-based
Model to the Psychotherapy for Impaired Mental State Understanding in
People with Psychotic Disorders
SO ISRAEL JOURNAL OF PSYCHIATRY AND RELATED SCIENCES
LA English
DT Article
ID BORDERLINE PERSONALITY-DISORDER; SCHIZOPHRENIA; MIND; AUTISM
AB Disturbances of mentalization have been increasingly associated with the symptoms and functional impairment of people with psychotic disorders. It has been proposed that psychotherapy designed to foster self and other understanding, such as mentalization-based treatment (MBT), may play an important part in facilitating recovery from psychosis. Here, we present an attachment-based understanding of mentalization impairments. We then outline a neuropsychological model that links disruptions of mentalization associated with disturbances in the caregiving environment to the pathophysiology of psychosis in genetically at-risk individuals. This is followed by an illustration of some of the core MBT techniques for the rehabilitation of the capacity to mentalize as applied to the treatment of a patient with a psychotic disorder.
C1 [Brent, Benjamin K.; Keshavan, Matcheri S.; Seidman, Larry J.] Beth Israel Deaconess Med Ctr, Dept Psychiat, Boston, MA 02215 USA.
[Brent, Benjamin K.; Keshavan, Matcheri S.; Seidman, Larry J.] Massachusetts Mental Hlth Ctr, Boston, MA 02139 USA.
[Holt, Daphne J.; Seidman, Larry J.] Harvard Univ, Sch Med, Dept Psychiat, Massachusetts Gen Hosp, Boston, MA 02115 USA.
[Brent, Benjamin K.; Holt, Daphne J.; Keshavan, Matcheri S.; Seidman, Larry J.] Harvard Univ, Sch Med, Boston, MA USA.
[Fonagy, Peter] UCL, Psychoanal Unit, London, England.
RP Brent, BK (reprint author), Massachusetts Mental Hlth Ctr, 75 Fenwood Rd Room 618, Boston, MA 02139 USA.
EM bbrent@bidmc.harvard.edu
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NR 37
TC 5
Z9 5
PU MEDIAFARM GROUP
PI TEL-AVIV
PA 23 ZAMENHOFF ST, TEL-AVIV, 64373, ISRAEL
SN 0333-7308
J9 ISR J PSYCHIATR REL
JI Isr. J. Psychiatr. Relat. Sci.
PY 2014
VL 51
IS 1
BP 17
EP 24
PG 8
WC Psychiatry
SC Psychiatry
GA AU5XY
UT WOS:000345678000003
PM 24858631
ER
PT J
AU Hagner, D
May, J
Kurtz, A
Cloutier, H
AF Hagner, David
May, Janet
Kurtz, Alan
Cloutier, Heidi
TI Person-Centered Planning for Transition-Aged Youth with Autism Spectrum
Disorders
SO JOURNAL OF REHABILITATION
LA English
DT Article
ID VOCATIONAL-REHABILITATION; LONGITUDINAL ANALYSIS; EMPLOYMENT OUTCOMES;
DISABILITIES; COUNSELORS; INDIVIDUALS; SUPPORTS; STUDENTS; CHOICE; MODEL
AB Person-centered planning is a process that can allow individuals with disabilities to participate more actively in their transition planning, and more active participation in planning is associated with more positive vocational rehabilitation outcomes. However, youth with Autism Spectrum Disorders (ASD) often face obstacles to participation in person-centered planning, including high levels of anxiety, difficulties with social interaction and communication. This study explores strategies and supports used to help transition-aged youth with ASD participate in person-centered transition planning meetings. Strategies facilitating participation included: (1) individualized preparation for meetings, (2) informal activities to build rapport between the planning facilitator and the youth, (3) flexible meeting designs, (4) distance attendance, and (5) support for alternative means of communication. The findings suggest that person-centered planning can be implemented for transition-aged youth across the autism spectrum as a tool for enhancing participation in transition planning. Implications for the use of this planning process by rehabilitation counselors involved in transition are discussed.
C1 [Hagner, David; Cloutier, Heidi] Univ New Hampshire, Inst Disabil, Durham, NH 03824 USA.
[May, Janet; Kurtz, Alan] Univ Maine, Ctr Community Inclus & Disabil Studies, Orono, ME 04469 USA.
RP Hagner, D (reprint author), Univ New Hampshire, Inst Disabil, 10 West Edge Dr,Suite 101, Durham, NH 03824 USA.
EM david.hagner@unh.edu
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NR 41
TC 0
Z9 0
PU NATL REHABILITATION ASSOC-NRA
PI ALEXANDRIA
PA 633 S WASHINGTON ST, ALEXANDRIA, VA 22314-4109 USA
SN 0022-4154
J9 J REHABIL
JI J. Rehabil.
PD JAN-MAR
PY 2014
VL 80
IS 1
BP 4
EP 10
PG 7
WC Rehabilitation
SC Rehabilitation
GA AU8ZI
UT WOS:000345881400001
ER
PT J
AU Schurgin, MW
Nelson, J
Iida, S
Ohira, H
Franconeri, SL
Franconeri, SL
AF Schurgin, M. W.
Nelson, J.
Iida, S.
Ohira, H.
Chiao, J. Y.
Franconeri, S. L.
TI Eye movements during emotion recognition in faces
SO JOURNAL OF VISION
LA English
DT Article
DE face recognition; emotion; eye movements; attention; fixation
ID FACIAL EXPRESSIONS; IMPAIRED RECOGNITION; AMYGDALA DAMAGE; PERCEPTION;
FIXATIONS; BEHAVIOR; AUTISM; GAZE; SCHIZOPHRENIA; STIMULI
AB When distinguishing whether a face displays a certain emotion, some regions of the face may contain more useful information than others. Here we ask whether people differentially attend to distinct regions of a face when judging different emotions. Experiment 1 measured eye movements while participants discriminated between emotional (joy, anger, fear, sadness, shame, and disgust) and neutral facial expressions. Participant eye movements primarily fell in five distinct regions (eyes, upper nose, lower nose, upper lip, nasion). Distinct fixation patterns emerged for each emotion, such as a focus on the lips for joyful faces and a focus on the eyes for sad faces. These patterns were strongest for emotional faces but were still present when viewers sought evidence of emotion within neutral faces, indicating a goal-driven influence on eye-gaze patterns. Experiment 2 verified that these fixation patterns tended to reflect attention to the most diagnostic regions of the face for each emotion. Eye movements appear to follow both stimulus-driven and goal-driven perceptual strategies when decoding emotional information from a face.
C1 [Schurgin, M. W.] Johns Hopkins Univ, Dept Psychol & Brain Sci, Baltimore, MD 21218 USA.
[Nelson, J.] Loyola Univ, Chicago, IL 60611 USA.
[Iida, S.; Ohira, H.] Nagoya Univ, Chikusa Ku, Nagoya, Aichi, Japan.
[Chiao, J. Y.; Franconeri, S. L.] Northwestern Univ, Evanston, IL USA.
RP Schurgin, MW (reprint author), Johns Hopkins Univ, Dept Psychol & Brain Sci, Baltimore, MD 21218 USA.
EM maschurgin@jhu.edu
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NR 44
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 13
AR 14
DI 10.1167/14.13.14
PG 16
WC Ophthalmology
SC Ophthalmology
GA AU7GH
UT WOS:000345768300014
PM 25406159
ER
PT J
AU Hughes, S
AF Hughes, Stephanie
TI Bullying: What Speech-Language Pathologists Should Know
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
DE school bullying; relational bullying; peer relationships; social skills;
intervention
ID AUTISM SPECTRUM DISORDERS; PEER VICTIMIZATION; SECONDARY-SCHOOL;
CHILDREN; BEHAVIOR; INTERVENTION; ASSOCIATIONS; ADOLESCENTS; STUTTER;
CONSEQUENCES
AB Purpose: The purpose of this tutorial is to introduce speech-language pathologists (SLPs) to the broad issues surrounding the problem of school bullying in childhood and adolescence. Specifically, types of bullying and their causes are considered, as are the roles students take when bullying occurs and the effects of bullying on students with communication disorders. Strategies and suggestions to help SLPs more effectively prevent and manage bullying of students with communication disorders are discussed.
Method: A review of the scholarly literature in education, psychology, child and adolescent development, and speech-language pathology was conducted. Recommendations for how SLPs can prevent and intervene in bullying incidences were extrapolated from the reviewed literature.
Results: Students with communication disorders are at particularly high risk for being bullied by peers. Some students with communication disorders are "provocative victims" in that they demonstrate impairments in social skills that draw the attention of bullies. Both provocative victims and typical students may react aggressively when bullied and bully others in retaliation.
Conclusion: SLPs can and should help to create an inclusive environment for all students while addressing bullying of students with communication disorders via therapeutic activities.
C1 Univ Toledo, Toledo, OH 43606 USA.
RP Hughes, S (reprint author), Univ Toledo, Toledo, OH 43606 USA.
EM stephanie.hughes@utoledo.edu
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NR 92
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 JAN
PY 2014
VL 45
IS 1
BP 3
EP 13
DI 10.1044/2013_LSHSS-13-0013
PG 11
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YT
UT WOS:000345680100002
PM 24687763
ER
PT J
AU Petersen, DB
Brown, CL
Ukrainetz, TA
Wise, C
Spencer, TD
Zebre, J
AF Petersen, Douglas B.
Brown, Catherine L.
Ukrainetz, Teresa A.
Wise, Christine
Spencer, Trina D.
Zebre, Jennifer
TI Systematic Individualized Narrative Language Intervention on the
Personal Narratives of Children With Autism
SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS
LA English
DT Article
DE autism; intervention; language; school-based services; language
disorders; efficacy; children
ID SCHOOL-AGE-CHILDREN; EXPRESSIVE ELABORATION; IMPAIRED CHILDREN; SPOKEN
NARRATIVES; YOUNG-CHILDREN; FAST FORWORD; COMMUNICATION; SKILLS;
IMPAIRMENTS; STORIES
AB Purpose: The purpose of this study was to investigate the effect of an individualized, systematic language intervention on the personal narratives of children with autism.
Method: A single-subject, multiple-baseline design across participants and behaviors was used to examine the effect of the intervention on language features of personal narratives. Three 6- to 8-year-old boys with autism participated in 12 individual intervention sessions that targeted 2-3 story grammar elements (e.g., problem, plan) and 3-4 linguistic complexity elements (e.g., causal subordination, adverbs) selected from each participant's baseline performance. Intervention involved repeated retellings of customized model narratives and the generation of personal narratives with a systematic reduction of visual and verbal scaffolding. Independent personal narratives generated at the end of each baseline, intervention, and maintenance session were analyzed for presence and sophistication of targeted features.
Results: Graphical and statistical results showed immediate improvement in targeted language features as a function of intervention. There was mixed evidence of maintenance 2 and 7 weeks after intervention.
Conclusion: Children with autism can benefit from an individualized, systematic intervention targeting specific narrative language features. Greater intensity of intervention may be needed to gain enduring effects for some language features.
C1 [Petersen, Douglas B.; Brown, Catherine L.; Ukrainetz, Teresa A.; Wise, Christine; Zebre, Jennifer] Univ Wyoming, Laramie, WY 82071 USA.
[Spencer, Trina D.] No Arizona Univ, Flagstaff, AZ 86011 USA.
RP Petersen, DB (reprint author), Univ Wyoming, Laramie, WY 82071 USA.
EM dpeter39@uwyo.edu
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NR 84
TC 1
Z9 1
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 JAN
PY 2014
VL 45
IS 1
BP 67
EP 86
DI 10.1044/2013_LSHSS-12-0099
PG 20
WC Linguistics; Rehabilitation
SC Linguistics; Rehabilitation
GA AU5YT
UT WOS:000345680100007
PM 24687768
ER
PT J
AU La Cognata, V
Iemmolo, R
D'Agata, V
Scuderi, S
Drago, F
Zappia, M
Cavallaro, S
AF La Cognata, Valentina
Iemmolo, Rosario
D'Agata, Velia
Scuderi, Soraya
Drago, Filippo
Zappia, Mario
Cavallaro, Sebastiano
TI Increasing the Coding Potential of Genomes Through Alternative Splicing:
The Case of PARK2 Gene
SO CURRENT GENOMICS
LA English
DT Article
DE Alternative splicing; mRNA; PARK2; Protein isoforms; Splice variants;
Splice expression patterns
ID RECESSIVE JUVENILE PARKINSONISM; MESSENGER-RNA; DIFFERENTIAL EXPRESSION;
ALPHA-SYNUCLEIN; HUMAN BRAIN; DEFICIENT MICE; RAT-BRAIN; DISEASE;
MUTATIONS; PROTEIN
AB The completion of the Human Genome Project aroused renewed interest in alternative splicing, an efficient and widespread mechanism that generates multiple protein isoforms from individual genes. Although our knowledge about alternative splicing is growing exponentially, its real impact on cellular life is still to be clarified. Connecting all splicing features (genes, splice transcripts, isoforms, and relative functions) may be useful to resolve this tangle. Herein, we will start from the case of a single gene, Parkinson protein 2, E3 ubiquitin protein ligase (PARK2), one of the largest in our genome. This gene is implicated in the pathogenesis of autosomal recessive juvenile Parkinsonism and it has been recently linked to cancer, leprosy, autism, type 2 diabetes mellitus and Alzheimer's disease. PARK2 primary transcript undergoes an extensive alternative splicing, which enhances transcriptomic diversification and protein diversity in tissues and cells. This review will provide an update of all human PARK2 alternative splice transcripts and isoforms presently known, and correlate them to those in rat and mouse, two common animal models for studying human disease genes. Alternative splicing relies upon a complex process that could be easily altered by both cis and trans-acting mutations. Although the contribution of PARK2 splicing in human disease remains to be fully explored, some evidences show disruption of this versatile form of genetic regulation may have pathological consequences.
C1 [La Cognata, Valentina; Iemmolo, Rosario; Cavallaro, Sebastiano] Italian Natl Res Council, Inst Neurol Sci, Funct Genom Ctr, I-95125 Catania, Italy.
[D'Agata, Velia; Scuderi, Soraya] Univ Catania, Dept Biomed Sci, Sect Anat & Histol, Catania, Italy.
[Drago, Filippo] Univ Catania, Dept Clin & Mol Biomed, Sect Pharmacol & Biochem, Catania, Italy.
[Zappia, Mario] Univ Catania, Dept GF Ingrassia, Sect Neurosci, Catania, Italy.
RP Cavallaro, S (reprint author), Italian Natl Res Council, Inst Neurol Sci, Funct Genom Ctr, Via Paolo Gaifami 18, I-95125 Catania, Italy.
EM sebastiano.cavallaro@cnr.it
RI Cavallaro, Sebastiano/F-3104-2010
OI Cavallaro, Sebastiano/0000-0001-7590-1792
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NR 67
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1389-2029
EI 1875-5488
J9 CURR GENOMICS
JI Curr. Genomics
PY 2014
VL 15
IS 3
BP 203
EP 216
PG 14
WC Biochemistry & Molecular Biology; Genetics & Heredity
SC Biochemistry & Molecular Biology; Genetics & Heredity
GA AT9CH
UT WOS:000345225100007
PM 24955028
ER
PT J
AU Mareschal, I
Otsuka, Y
Clifford, CWG
AF Mareschal, Isabelle
Otsuka, Yumiko
Clifford, Colin W. G.
TI A generalized tendency toward direct gaze with uncertainty
SO JOURNAL OF VISION
LA English
DT Article
DE gaze; prior; cardinal directions
ID EYE CONTACT; AVERTED GAZE; PERCEPTION; LOOKING; AUTISM; ORIENTATION;
KNOWLEDGE; CONE
AB Joint gaze behavior plays a crucial role in nonverbal communication and enhances group interactions. We recently reported that under conditions of uncertainty, observers assume that another person's (left/right averted) gaze is directed towards them, a prior for direct gaze. Given that people's gaze can deviate in many directions during social interactions, we developed a versatile method to examine how the influence of the prior for direct gaze varies across a range of gaze directions in both forward facing and rotated heads. We find that observers tend to report another's gaze along all axes as being more direct when uncertainty is introduced by adding noise to the stimulus. We also find that the influence of the prior is stronger in rotated heads than direct (forward) heads. This is consistent with the idea that, when uncertain, humans tend to judge gaze deviations as being directed at them, regardless of head rotation or axis of deviation.
C1 [Mareschal, Isabelle] Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
[Mareschal, Isabelle] Univ Sydney, Dept Psychol, Sydney, NSW 2006, Australia.
[Otsuka, Yumiko; Clifford, Colin W. G.] UNSW Australia, Sch Psychol, Sydney, NSW, Australia.
RP Mareschal, I (reprint author), Queen Mary Univ London, Sch Biol & Chem Sci, London, England.
EM i.mareschal@qmul.ac.uk
FU Australian Research Council Discovery Project [DP120102589]; Australian
Research Council Future Fellowship
FX This work is supported by an Australian Research Council Discovery
Project (DP120102589) and an Australian Research Council Future
Fellowship to CC.
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NR 44
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 12
AR 27
DI 10.1167/14.12.27
PG 9
WC Ophthalmology
SC Ophthalmology
GA AT5GI
UT WOS:000344971700021
ER
PT J
AU Pei, F
Baldassi, S
Norcia, AM
AF Pei, Francesca
Baldassi, Stefano
Norcia, Anthony M.
TI Electrophysiological measures of low-level vision reveal spatial
processing deficits and hemispheric asymmetry in autism spectrum
disorder
SO JOURNAL OF VISION
LA English
DT Article
DE autism; vision; visual evoked potential; spatial frequency; visual
perception
ID PERVASIVE DEVELOPMENTAL DISORDER; EYED VISUAL-ACUITY; CONTRAST
SENSITIVITY; GLOBAL PRECEDENCE; MOTION PERCEPTION; ASPERGER-SYNDROME;
FACE PERCEPTION; GRATING ACUITY; SWEEP VEP; CHILDREN
AB There is accumulating evidence from electrophysiological studies that low-level visual processing is atypical in individuals with autism spectrum disorders (ASDs). Abnormalities in early stages of sensory processing are of interest because they could lead to downstream functional deficits in social or cognitive domains. Using steady-state visual evoked potentials (SSVEPs), we studied how well spatial information is transmitted over a wide range of spatial frequencies (2-30 cycles/deg), including those at the limit of visibility (visual acuity). SSVEPs were recorded over 128 channels in 16 ASD participants between 5 and 17 years old and 17 age-matched, neurotypical (NT) participants. We observed a selective reduction of the amplitude of the SSVEP second harmonic pattern reversal response between 5 and 17 cycles/deg. Responses measured at the fourth harmonic were normal at all spatial frequencies tested, as were responses at the lowest and highest spatial frequencies at the second harmonic. The reduction of second harmonic responses occurred preferentially over right occipital electrodes. Because response abnormalities are restricted to a specific response harmonic and to specific ranges of spatial frequency, we can rule out nonspecific differences between the ASD participants and the NT controls. This particular pattern of loss, combined with the observed exaggeration of the loss over the right hemisphere, suggests that a highly specific neural substrate early in the visual pathway is compromised in ASD.
C1 [Pei, Francesca; Baldassi, Stefano; Norcia, Anthony M.] Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
[Pei, Francesca] Stanford Univ, Packard Childrens Hosp, Stanford Autism Ctr, Dept Psychiat,Sch Med, Stanford, CA 94305 USA.
[Baldassi, Stefano] Univ Florence, Dept Neurosci Psychol Pharmacol & Child Hlth, Florence, Italy.
RP Pei, F (reprint author), Stanford Univ, Dept Psychol, Stanford, CA 94305 USA.
EM fpei@stanford.edu
FU Simons Foundation for Autism Research Initiative (SFARI); Bass Society
FX This work was supported by the Simons Foundation for Autism Research
Initiative (SFARI) and by the Bass Society for Pediatric Scholars. We
thank all the families and children who dedicated their time to help us
with our research project.
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NR 83
TC 0
Z9 0
PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC
PI ROCKVILLE
PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA
SN 1534-7362
J9 J VISION
JI J. Vision
PY 2014
VL 14
IS 11
DI 10.1167/14.11.3
PG 12
WC Ophthalmology
SC Ophthalmology
GA AT5GG
UT WOS:000344971500003
ER
PT J
AU Columna, L
Cook, A
Foley, JT
Bailey, J
AF Columna, Luis
Cook, Allison
Foley, John T.
Bailey, JoEllen
TI Survey development to assess parental satisfaction with adapted physical
education teachers' abilities working with children with autism
SO PHYSICAL EDUCATION AND SPORT PEDAGOGY
LA English
DT Article
DE adapted physical education; collaboration; parents; communication;
autism
ID SPECTRUM DISORDERS; DOWN-SYNDROME; PERCEPTIONS; DISABILITIES;
PERSPECTIVES; FAMILY; PARTICIPATION; EXPECTATIONS; PROGRAMS; STUDENTS
AB Purpose: The purpose of this study was to systematically develop and validate an instrument to assess parental perceptions toward adapted physical education (APE) teachers, who work with children with autism.
Methods: Participants included two expert panels and parents of children and youth with autism. The survey used a Likert-scale design where parents rated their level of satisfaction regarding communication with, qualifications of, and rapport with the APE teachers.
Results: Based on a coefficients for each of the three subscales, it was concluded that the survey had high internal validity. Split-half reliability determined by the Spearman Brown Prophecy coefficient indicated high reliability.
Conclusion: Preliminary evidence demonstrated that the survey may be a useful tool in assessing parental perceptions of their child's APE teacher.
C1 [Columna, Luis] Syracuse Univ, Dept Exercise Sci, Syracuse, NY 13244 USA.
[Cook, Allison] Homer Sch Dist, Homer, NY 13077 USA.
[Foley, John T.; Bailey, JoEllen] SUNY Coll Cortland, Cortland, NY 13045 USA.
RP Columna, L (reprint author), Syracuse Univ, Dept Exercise Sci, 201 Womens Bldg, Syracuse, NY 13244 USA.
EM lcolumna@syr.edu
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NR 42
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1740-8989
EI 1742-5786
J9 PHYS EDUC SPORT PEDA
JI Phys. Educ. Sport Pedag.
PY 2014
VL 19
IS 5
SI SI
BP 481
EP 493
DI 10.1080/17408989.2014.907888
PG 13
WC Education & Educational Research
SC Education & Educational Research
GA AU0UF
UT WOS:000345339400003
ER
PT J
AU Amatachaya, A
Auvichayapat, N
Patjanasoontorn, N
Suphakunpinyo, C
Ngernyam, N
Aree-uea, B
Keeratitanont, K
Auvichayapat, P
AF Amatachaya, Anuwat
Auvichayapat, Narong
Patjanasoontorn, Niramol
Suphakunpinyo, Chanyut
Ngernyam, Niran
Aree-uea, Benchaporn
Keeratitanont, Keattichai
Auvichayapat, Paradee
TI Effect of Anodal Transcranial Direct Current Stimulation on Autism: A
Randomized Double-Blind Crossover Trial
SO BEHAVIOURAL NEUROLOGY
LA English
DT Article
ID HIGH-FUNCTIONING AUTISM; FUSIFORM FACE AREA; RATING-SCALE CARS; SPECTRUM
DISORDERS; MAGNETIC STIMULATION; ASPERGER-SYNDROME; CHILDHOOD AUTISM;
LANGUAGE; CHILDREN; BRAIN
AB The aim of this study was to evaluate the Childhood Autism Rating Scale ( CARS), Autism Treatment Evaluation Checklist (ATEC), and Children's Global Assessment Scale (CGAS) after anodal transcranial direct current stimulation (tDCS) in individuals with autism. Twenty patients with autism received 5 consecutive days of both sham and active tDCS stimulation (1mA) in a randomized double-blind crossover trial over the left dorsolateral prefrontal cortex (F3) for 20 minutes in different orders. Measures of CARS, ATEC, and CGAS were administered before treatment and at 7 days posttreatment. The result showed statistical decrease in CARS score (P < 0.001). ATEC total was decreased from 67.25 to 58 (P < 0.001). CGAS was increased at 7 days posttreatment (P = 0.042). Our study suggests that anodal tDCS over the F3 may be a useful clinical tool in autism.
C1 [Amatachaya, Anuwat; Ngernyam, Niran; Aree-uea, Benchaporn; Keeratitanont, Keattichai; Auvichayapat, Paradee] Khon Kaen Univ, Fac Med, Dept Physiol, Khon Kaen 40002, Thailand.
[Auvichayapat, Narong; Suphakunpinyo, Chanyut] Khon Kaen Univ, Fac Med, Dept Pediat, Khon Kaen 40002, Thailand.
[Patjanasoontorn, Niramol] Khon Kaen Univ, Fac Med, Dept Psychiat, Khon Kaen 40002, Thailand.
RP Auvichayapat, P (reprint author), Khon Kaen Univ, Fac Med, Dept Physiol, Khon Kaen 40002, Thailand.
EM aparad@kku.ac.th
FU KKU-Integrated Multidisciplinary Research Cluster, Sub-Cluster of
Integrated Multidisciplinary Researches in Health Sciences; National
Research University (NRU) grant, Khon Kaen University; Faculty of
Medicine, Khon Kaen University, Thailand [I 55224]; National Research
Council of Thailand (NRCT)
FX The authors thank Professor Mark P. Jensen of the University of
Washington for his guidance and valuable suggestions and Khon Kaen
Special Education Center Region 9 for subject recruitment. Anuwat
Amatachaya, Narong Auvichayapat, Niran Ngernyam, Benchaporn Aree-uea,
Keattichai Keeratitanont, and Paradee Auvichayapat are Members of
Noninvasive Brain Stimulation Research Group of Thailand. This work was
supported by The KKU-Integrated Multidisciplinary Research Cluster,
Sub-Cluster of Integrated Multidisciplinary Researches in Health
Sciences; National Research University (NRU) grant, Khon Kaen
University; an invitation research grant, Faculty of Medicine, Khon Kaen
University, Thailand (Grant no. I 55224); and a grant of National
Research Council of Thailand (NRCT).
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NR 47
TC 0
Z9 0
PU HINDAWI PUBLISHING CORPORATION
PI NEW YORK
PA 410 PARK AVENUE, 15TH FLOOR, #287 PMB, NEW YORK, NY 10022 USA
SN 0953-4180
EI 1875-8584
J9 BEHAV NEUROL
JI Behav. Neurol.
PY 2014
AR 173073
DI 10.1155/2014/173073
PG 7
WC Clinical Neurology
SC Neurosciences & Neurology
GA AT1MW
UT WOS:000344699100001
ER
PT J
AU Dudova, I
Markova, D
Kasparova, M
Zemankova, J
Beranova, S
Urbanek, T
Hrdlicka, M
AF Dudova, Iva
Markova, Daniela
Kasparova, Martina
Zemankova, Jana
Beranova, Stepanka
Urbanek, Tomas
Hrdlicka, Michal
TI Comparison of three screening tests for autism in preterm children with
birth weights less than 1,500 grams
SO NEUROPSYCHIATRIC DISEASE AND TREATMENT
LA English
DT Article
DE autism spectrum disorders; preterm children; screening; Modified
Checklist for Autism in Toddlers; Communication and Symbolic Behavior
Scales Developmental Profile Infant-Toddler Checklist; Infant/Toddler
Sensory Profile
ID SPECTRUM DISORDERS; MODIFIED CHECKLIST; INFANTS; AGE; PREVALENCE;
TODDLERS; OUTCOMES; RISK; BORN
AB Background: Preterm children seem to be at increased risk for autism spectrum disorders (ASD). Methods: Parents of 157 children with birth weights less than 1,500 g (age 2 years, corrected for prematurity; 88 boys, 69 girls) completed screening questionnaires. The screening battery included the Modified Checklist for Autism in Toddlers (M-CHAT), Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC), and the Infant/Toddler Sensory Profile (ITSP). Children with disabilities were excluded. All children who screened positive on any of the screening tools were subsequently assessed by clinical examination including the Autism Diagnostic Observation Schedule.
Results: Fifty-six children (35.7%) screened positive on at least one of the parental screening questionnaires. Of the 56 children who tested positive, 33 participated in the detailed clinical follow-up assessment. A diagnosis of ASD was confirmed in 13 of the 33 children. The ASD prevalence was 9.7% of the sample. Analysis of children with and without an ASD diagnosis found significant differences relative to gestational age (26.9 weeks vs 28.3 weeks, P=0.033) and length of the stay in hospital (89.5 days vs 75.4 days, P=0.042). The screening tool with the most positive results was CSBS-DP-ITC (42 positive screens [PS]), followed by M-CHAT (28 PS), and ITSP (22 PS). Differences in the frequency of PS among the tests were significant (P=0.008). CSBS-DP-ITC had the highest sensitivity (0.846), followed by M-CHAT (0.692) and ITSP (0.462).
Conclusion: Our results indicate a higher prevalence of autism in children with birth weights <1,500 g at 2 years of age compared to the general population prevalence. The ASD diagnosis was associated with shorter gestation times and longer hospital stays. Our findings support the simultaneous use of more than one screening tests in order to increase screening sensitivity.
C1 [Dudova, Iva; Beranova, Stepanka; Hrdlicka, Michal] Charles Univ Prague, Fac Med 2, Dept Child Psychiat, Prague 15006, Czech Republic.
[Dudova, Iva; Kasparova, Martina; Beranova, Stepanka; Hrdlicka, Michal] Univ Hosp Motol, Prague, Czech Republic.
[Markova, Daniela] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic.
[Markova, Daniela] Gen Univ Hosp, Prague, Czech Republic.
[Kasparova, Martina] Charles Univ Prague, Fac Med 2, Dept Pediat, Prague 15006, Czech Republic.
[Zemankova, Jana] Charles Univ Prague, Fac Med, Dept Pediat, Hradec Kralove, Czech Republic.
[Zemankova, Jana] Univ Hosp, Hradec Kralove, Czech Republic.
[Urbanek, Tomas] Acad Sci, Inst Psychol, Brno, Czech Republic.
RP Dudova, I (reprint author), Charles Univ Prague, Univ Hosp Motol, Fac Med 2, Dept Child Psychiat, V Uvalu 84, Prague 15006, Czech Republic.
EM iva.dudova@lfmotol.cuni.cz
RI Urbanek, Tomas/G-9427-2014
OI Urbanek, Tomas/0000-0002-8807-4869
FU Ministry of Education, Youth and Sports, Czech Republic [COST LD11028];
Ministry of Health, Czech Republic [IGA NT/14200]; ESF (COST Action )
[ESSEA BM1004]; conceptual development of research organization,
University Hospital Motol, Prague, Czech Republic [00064203]
FX This work was supported by the Ministry of Education, Youth and Sports,
Czech Republic (research grant COST LD11028), by the Ministry of Health,
Czech Republic (research grant IGA NT/14200 and conceptual development
of research organization, University Hospital Motol, Prague, Czech
Republic 00064203), and by the ESF (COST Action ESSEA BM1004). The
authors would like to thank Thomas Secrest for his assistance with the
English version of the manuscript.
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Yarri M, 2014, COMPREHENSIVE GUIDE, P1371
NR 39
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1178-2021
J9 NEUROPSYCH DIS TREAT
JI Neuropsychiatr. Dis. Treat.
PY 2014
VL 10
BP 2201
EP 2208
DI 10.2147/NDT.S72921
PG 8
WC Clinical Neurology; Psychiatry
SC Neurosciences & Neurology; Psychiatry
GA AT4SC
UT WOS:000344930800001
PM 25484588
ER
PT J
AU Karim, S
Mirza, Z
Kamal, MA
Abuzenadah, AM
Azhar, EI
Al-Qahtani, MH
Damanhouri, GA
Ahmad, F
Gan, SH
Sohrab, SS
AF Karim, Sajjad
Mirza, Zeenat
Kamal, Mohammad A.
Abuzenadah, Adel M.
Azhar, Esam I.
Al-Qahtani, Mohammed H.
Damanhouri, Ghazi A.
Ahmad, Fahim
Gan, Siew H.
Sohrab, Sayed S.
TI The Role of Viruses in Neurodegenerative and Neurobehavioral Diseases
SO CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
LA English
DT Article
DE Virus; Alzheimer's disease; amyotrophic lateral sclerosis; HIV
associated neurocognitive disorders; multiple sclerosis;
neurodegenerative diseases; Parkinson's disease
ID HERPES-SIMPLEX-VIRUS; EPSTEIN-BARR-VIRUS; CENTRAL-NERVOUS-SYSTEM;
MULTIPLE-SCLEROSIS PATIENTS; HIV-ASSOCIATED DEMENTIA;
VARICELLA-ZOSTER-VIRUS; H5N1 INFLUENZA-VIRUS; REVERSE-TRANSCRIPTASE
ACTIVITY; AMYOTROPHIC-LATERAL-SCLEROSIS; CLINICALLY ISOLATED SYNDROME
AB Neurodegenerative and neurobehavioral diseases may be caused by chronic and neuropathic viral infections and may result in a loss of neurons and axons in the central nervous system that increases with age. To date, there is evidence of systemic viral infections that occur with some neurodegenerative conditions such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, autism spectrum disorders, and HIV-associated neurocognitive disorders. With increasing lifespan, the incidence of neurodegenerative diseases increases consistently. Neurodegenerative diseases affect approximately 37 million people worldwide and are an important cause of mortality. In addition to established non-viral-induced reasons for neurodegenerative diseases, neuropathic infections and viruses associated with neurodegenerative diseases have been proposed. Neuronal degeneration can be either directly or indirectly affected by viral infection. Viruses that attack the human immune system can also affect the nervous system and interfere with classical pathways of neurodegenerative diseases. Viruses can enter the central nervous system, but the exact mechanism cannot be understood well. Various studies have supported viral-and non-viral-mediated neurodegeneration at the cellular, molecular, genomic and proteomic levels. The main focus of this review is to illustrate the association between viral infections and both neurodegenerative and neurobehavioral diseases, so that the possible mechanism and pathway of neurodegenerative diseases can be better explained. This information will strengthen new concepts and ideas for neurodegenerative and neurobehavioral disease treatment.
C1 [Karim, Sajjad; Abuzenadah, Adel M.; Al-Qahtani, Mohammed H.] King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah 21589, Saudi Arabia.
[Mirza, Zeenat; Kamal, Mohammad A.; Abuzenadah, Adel M.; Damanhouri, Ghazi A.] King Abdulaziz Univ, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia.
[Azhar, Esam I.; Sohrab, Sayed S.] King Abdulaziz Univ, King Fahd Med Res Ctr, Special Infect Agents Unit, Jeddah 21589, Saudi Arabia.
[Azhar, Esam I.] King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Jeddah 21589, Saudi Arabia.
[Ahmad, Fahim] Univ Texas El Paso, Dept Biol Sci, El Paso, TX 79968 USA.
[Gan, Siew H.] Univ Sains Malaysia, Ctr Human Genome, Sch Med Sci, Kubang Kerian 16150, Kelantan, Malaysia.
RP Sohrab, SS (reprint author), King Abdulaziz Univ, King Fahd Med Res Ctr, Special Infect Agents Unit, POB 80216, Jeddah 21589, Saudi Arabia.
EM sohrab_sartaj2@rediffmail.com
RI SOHRAB, SAYED/H-9613-2012; Karim, Sajjad/H-9897-2012; Mirza,
Zeenat/H-9498-2012; Gan, Hua/A-6266-2011
OI Gan, Hua/0000-0001-6470-3651
FU King Abdullah City for Science and Technology, Riyadh, Saudi Arabia
(KACST) [10-BIO1073-03, 10-BIO1258-03]
FX We are thankful to King Abdullah City for Science and Technology,
Riyadh, Saudi Arabia (KACST Strategic Project ID 10-BIO1073-03 and
10-BIO1258-03) for research funding and support. The authors gratefully
acknowledge the research facility provided by King Fahd Medical Research
Center (KFMRC), Center of Excellence in Genomic Medicine Research
(CEGMR) and Deanship of Scientific Research (DSR), King Abdulaziz
University, Jeddah, Saudi Arabia.
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NR 152
TC 1
Z9 1
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1871-5273
EI 1996-3181
J9 CNS NEUROL DISORD-DR
JI CNS Neurol. Disord.-Drug Targets
PY 2014
VL 13
IS 7
BP 1213
EP 1223
PG 11
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AS0UG
UT WOS:000343993400011
PM 25230220
ER
PT J
AU Li, WZ
Mills, AA
AF Li, Wangzhi
Mills, Alea A.
TI Architects of the genome: CHD dysfunction in cancer, developmental
disorders and neurological syndromes
SO EPIGENOMICS
LA English
DT Article
DE cancer; CHD proteins; chromatin remodeling; copy number variation;
developmental disorders; DNA damage; male infertility; mutation;
neurological syndromes
ID CHROMATIN-REMODELING FACTOR; DE-NOVO MUTATIONS; AUTISM SPECTRUM
DISORDERS; TUMOR-SUPPRESSOR GENE; DNA-BINDING PROTEIN-2; NONPROGRESSIVE
INFANTILE ATAXIA; CELL-CYCLE PROGRESSION; CHARGE SYNDROME;
PROSTATE-CANCER; INTELLECTUAL DISABILITY
AB Chromatin is vital to normal cells, and its deregulation contributes to a spectrum of human ailments. An emerging concept is that aberrant chromatin regulation culminates in gene expression programs that set the stage for the seemingly diverse pathologies of cancer, developmental disorders and neurological syndromes. However, the mechanisms responsible for such common etiology have been elusive. Recent evidence has implicated lesions affecting chromatin-remodeling proteins in cancer, developmental disorders and neurological syndromes, suggesting a common source for these different pathologies. Here, we focus on the chromodomain helicase DNA binding chromatin-remodeling family and the recent evidence for its deregulation in diverse pathological conditions, providing a new perspective on the underlying mechanisms and their implications for these prevalent human diseases.
C1 [Li, Wangzhi; Mills, Alea A.] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.
[Li, Wangzhi] SUNY Stony Brook, Mol & Cellular Biol Program, Stony Brook, NY 11794 USA.
RP Mills, AA (reprint author), Cold Spring Harbor Lab, POB 100, Cold Spring Harbor, NY 11724 USA.
EM mills@cshl.edu
RI Li, Wangzhi/A-1390-2015
FU NIH [R01CA190997, R21OD018332]
FX Work discussed in this review was supported in part by NIH awards
R01CA190997 and R21OD018332 to AAM. The authors have no other relevant
affiliations or financial involvement with any organization or entity
with a financial interest in or financial conflict with the subject
matter or materials discussed in the manuscript apart from those
disclosed. No writing assistance was utilized in the production of this
manuscript.
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NR 147
TC 2
Z9 2
PU FUTURE MEDICINE LTD
PI LONDON
PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3
1QB, ENGLAND
SN 1750-1911
EI 1750-192X
J9 EPIGENOMICS-UK
JI Epigenomics
PY 2014
VL 6
IS 4
BP 381
EP 395
DI 10.2217/epi.14.31
PG 15
WC Genetics & Heredity
SC Genetics & Heredity
GA AS5MH
UT WOS:000344314400003
PM 25333848
ER
PT S
AU Magana, S
Lopez, K
de Sayu, RP
Miranda, E
AF Magana, Sandra
Lopez, Kristina
de Sayu, Rebecca Paradiso
Miranda, Elizabeth
BE Hodapp, RM
TI Use of Promotoras de Salud in Interventions with Latino Families of
Children with IDD
SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 47
SE International Review of Research in Developmental Disabilities
LA English
DT Article; Book Chapter
ID POSITIVE PARENTING PROGRAM; AUTISM SPECTRUM DISORDERS;
DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; YOUNG-CHILDREN;
HEALTH OUTCOMES; INTERACTION THERAPY; PRESCHOOL-CHILDREN; BEHAVIOR
PROBLEMS; AMERICAN MOTHERS
AB Families of children with intellectual and developmental disabilities (IDDs) experience unique rewards and challenges caring for their child. Many family interventions have been developed over the years to provide supports to these families and their children. However, few interventions have included racial and ethnic minority families and few researchers have developed and tested culturally competent interventions specifically for these populations. Because Latinos represent the largest racial/ethnic population, they also represent a large proportion of children with IDD and their families. We provide back-ground on parent and family interventions, and those developed for use with Latino families. We then describe the use of the promotora de salud model as a culturally competent intervention mode for Latino families of children with IDD. We describe two parent training programs that used this mode, the results of their evaluation studies, and discuss lessons learned in the context using of a community-based research approach. Lastly, we explore the question of why promotoras were successful in promoting change among mothers of children with IDD by analyzing focus-group data across projects. Our findings suggest that role modeling and the collaborative style promotoras used in providing education promoted change among participants. In conclusion, more interventions are needed to serve Latino children with IDD and their families. The promotora de salud model holds promise as a mode of intervention delivery for these families.
C1 [Magana, Sandra] Univ Illinois, Dept Disabil & Human Dev, Chicago, IL 60607 USA.
[Lopez, Kristina] Calif State Univ Long Beach, Sch Social Work, Long Beach, CA 90840 USA.
[de Sayu, Rebecca Paradiso; Miranda, Elizabeth] Univ Wisconsin, Madison, WI USA.
RP Magana, S (reprint author), Univ Illinois, Dept Disabil & Human Dev, Chicago, IL 60607 USA.
EM maganas@uic.edu
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NR 89
TC 0
Z9 0
PU ELSEVIER ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA
SN 2211-6095
BN 978-0-12-800278-0
J9 INT REV RES DEV DISA
JI Int. Rev. Res. Dev. Disabil.
PY 2014
VL 47
BP 39
EP 75
DI 10.1016/B978-0-12-800278-0.00002-6
PG 37
WC Education, Special; Psychology, Multidisciplinary
SC Education & Educational Research; Psychology
GA BB5RJ
UT WOS:000344034800003
ER
PT S
AU Lawton, K
Hannigan, S
Ellawadi, AB
AF Lawton, Kathy
Hannigan, Sarah
Ellawadi, Allison Bean
BE Hodapp, RM
TI Moving Beyond the Status Quo: Using Evidence-Based Practice to Improve
Autism Core Deficits in the Preschool Classroom
SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 47
SE International Review of Research in Developmental Disabilities
LA English
DT Article; Book Chapter
ID JOINT ATTENTION INTERVENTION; RANDOMIZED CONTROLLED-TRIAL;
GENERAL-EDUCATION SETTINGS; EARLY-CHILDHOOD PROGRAMS; YOUNG-CHILDREN;
SPECTRUM DISORDERS; SOCIAL-COMMUNICATION; BEHAVIORAL TREATMENT;
TEACHING-CHILDREN; LANGUAGE USE
AB Children with an autism spectrum disorder (ASD) experience better short-term and long-term outcomes if they participate in interventions aimed at ameliorating ASD core deficits. Despite that the preschool setting has been suggested as an efficient and effective context for implementing these early ASD interventions, improving core deficits is rarely the focus of the status quo ASD preschool experience. In this review, we explain the relative benefits of conducting interventions aimed at improving ASD core deficits in the preschool setting and how often preschool-based ASD core deficit intervention studies are conducted. Promising recent preschool-based interventions are reviewed. We conclude with suggestions for how to increase the momentum of this research and have these interventions permeate the school context.
C1 [Lawton, Kathy] Upper Arlington City Sch, Student Serv Dept, Arlington, OH 43221 USA.
[Hannigan, Sarah] Ohio State Univ, Crane Ctr Early Childhood Res & Policy, Columbus, OH 43210 USA.
[Hannigan, Sarah] Ohio State Univ, Dept Teaching & Learning, Columbus, OH 43210 USA.
[Ellawadi, Allison Bean] Ohio State Univ, Dept Speech & Hearing, Columbus, OH 43210 USA.
RP Lawton, K (reprint author), Upper Arlington City Sch, Student Serv Dept, Arlington, OH 43221 USA.
EM Lawton.18@osu.edu
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NR 139
TC 0
Z9 0
PU ELSEVIER ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA
SN 2211-6095
BN 978-0-12-800278-0
J9 INT REV RES DEV DISA
JI Int. Rev. Res. Dev. Disabil.
PY 2014
VL 47
BP 99
EP 150
DI 10.1016/B978-0-12-800278-0.00004-X
PG 52
WC Education, Special; Psychology, Multidisciplinary
SC Education & Educational Research; Psychology
GA BB5RJ
UT WOS:000344034800005
ER
PT S
AU Daunhauer, LA
Gerlach-McDonald, B
Khetani, MA
AF Daunhauer, Lisa A.
Gerlach-McDonald, Brianne
Khetani, Mary A.
BE Hodapp, RM
TI Rules of "Engagement": Addressing Participation and Functional
Performance in Children with Intellectual and Developmental Disabilities
SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 47
SE International Review of Research in Developmental Disabilities
LA English
DT Article; Book Chapter
ID SCHOOL-AGED CHILDREN; EARLY INTERVENTION SERVICES; AUTISM SPECTRUM
DISORDERS; ADAPTIVE TESTING VERSION; LEISURE ACTIVITIES; CEREBRAL-PALSY;
PEDIATRIC EVALUATION; DOWN-SYNDROME; PHYSICAL-DISABILITIES; INDEPENDENCE
MEASURE
AB A primary goal of research in the field of intellectual and developmental disabilities (IDDs) is to help individuals with IDDs achieve optimal outcomes so that they are able to engage in life in ways that are individually meaningful. However, in order to achieve this goal, researchers need to be able to accurately define and measure participation and related concepts. This review examines the operationalization and measurement of both participation and functional performance in children with IDDs. We also discuss issues to be addressed and directions for future research.
C1 [Daunhauer, Lisa A.; Gerlach-McDonald, Brianne; Khetani, Mary A.] Colorado State Univ, Ft Collins, CO 80523 USA.
RP Daunhauer, LA (reprint author), Colorado State Univ, Ft Collins, CO 80523 USA.
EM lisa.daunhauer@colostate.edu
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NR 98
TC 0
Z9 0
PU ELSEVIER ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA
SN 2211-6095
BN 978-0-12-800278-0
J9 INT REV RES DEV DISA
JI Int. Rev. Res. Dev. Disabil.
PY 2014
VL 47
BP 151
EP 184
DI 10.1016/B978-0-12-800278-0.00005-1
PG 34
WC Education, Special; Psychology, Multidisciplinary
SC Education & Educational Research; Psychology
GA BB5RJ
UT WOS:000344034800006
ER
PT S
AU Hickson, L
Khemka, I
AF Hickson, Linda
Khemka, Ishita
BE Hodapp, RM
TI The Psychology of Decision Making
SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 47
SE International Review of Research in Developmental Disabilities
LA English
DT Article; Book Chapter
ID PROBLEM-SOLVING SKILLS; MENTAL-RETARDATION; WILLIAMS-SYNDROME;
RISK-TAKING; INTELLECTUAL DISABILITIES; SOCIAL COGNITION; PEER
INFLUENCE; BOUNDED RATIONALITY; PROSOCIAL BEHAVIOR; EMOTION REGULATION
AB This chapter overviews general theoretical advances including developmental perspectives in the study of decision-making behavior and their applicability in understanding how individuals with intellectual and developmental disabilities (IDD) approach interpersonal decisions in their lives. Of particular importance are the theoretical explications of the roles of cognitive and noncognitive processes (e.g., motivation and emotion), and the contextual demands of different decision tasks, as possible loci of the decision-making difficulties observed in individuals with IDD. Extant decision-making research with individuals with IDD is summarized and a Pathways of Decision Processing model is outlined for the systematic study of their decision-making processes and building adaptive decision-making strategies. The chapter examines distinct disability-specific patterns of decision-making difficulties associated with underlying etiologies and phenomenological characteristics of the subtypes of IDD, with implications for the need for differentiated interventions to improve the decision making of individuals with different forms of IDD, including those with intellectual disabilities, Williams syndrome, and autism spectrum disorders.
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[Khemka, Ishita] St Johns Univ, Queens, NY USA.
RP Hickson, L (reprint author), Columbia Univ, Teachers Coll, New York, NY 10027 USA.
EM hickson@exchange.tc.columbia.edu
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NR 148
TC 0
Z9 0
PU ELSEVIER ACADEMIC PRESS INC
PI SAN DIEGO
PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA
SN 2211-6095
BN 978-0-12-800278-0
J9 INT REV RES DEV DISA
JI Int. Rev. Res. Dev. Disabil.
PY 2014
VL 47
BP 185
EP 229
DI 10.1016/B978-0-12-800278-0.00006-3
PG 45
WC Education, Special; Psychology, Multidisciplinary
SC Education & Educational Research; Psychology
GA BB5RJ
UT WOS:000344034800007
ER
PT J
AU Ozaydin, L
Usak, E
AF Ozaydin, L.
Usak, E.
TI EXPECTATIONS OF PARENTS FROM SPORTIVE AND PHYSICAL ACTIVITIES FOR THEIR
CHILD WITH AUTISM AND THEIR VIEWS OVER AUTISM FRIENDLY ENVIRONMENT
SO JOURNAL OF ENVIRONMENTAL PROTECTION AND ECOLOGY
LA English
DT Article
DE autism friendly environment; autism spectrum disorder; sportive and
physical activities; expectations of parents; views of parents
ID SPECTRUM DISORDERS; HYPERACTIVITY DISORDER; ATTENTION-DEFICIT;
DISABILITIES; PARTICIPATION; LEISURE; MOTOR; ADOLESCENTS; RECREATION;
EDUCATION
AB The purpose of this study is to determine the expectations of parents having a child with autism trying to integrate their life with their child to normal life, their views over institutions, and their recommendations with regard to a healthy, secure, easily accessible and autism friendly environment. The participants of the study was made up of 4 mothers and 3 fathers, 7 people in total, having a child with autism at the age of 5-12 ages, living in Ankara. In the current study that was carried out depending on quantitative data, the data needed were collected through an interview form developed by the researchers and containing 10 questions. The data collected were analysed through content analysis (induction) technique containing the processes of printing out of the data, coding the data, finding the themes and organising the codes and themes. The findings of the current study comprised of three themes and the sub-theme of the themes obtained from the answers given to the questions in the interview form by the participant. These main themes are: (a) the expectations of the participant; (b) the views of participant over current case; (c) autism friendly environment. In the current study, it was found that parents were insistent over security issues. In addition, parents pointed out that they needed a complex of sports and activities where they can spend their spare time in a good way and parents should be included in the concept of autism friendly environment. When special education experts, city planning experts, landscape architects, people working at municipalities and sportive activities take these results into consideration, they will offer better and more comfortable opportunities for individuals.
C1 [Ozaydin, L.; Usak, E.] Gazi Univ, Hlth Serv Vocat Sch, Ankara, Turkey.
RP Ozaydin, L (reprint author), Gazi Univ, Hlth Serv Vocat Sch, Ankara, Turkey.
EM lozaydin@gazi.edu.tr
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World Health Organization, INT CLASS FUNCT DIS
Yilmaz I, 2004, PEDIATR INT, V46, P624, DOI 10.1111/j.1442-200x.2004.01938.x
NR 40
TC 0
Z9 0
PU SCIBULCOM LTD
PI SOFIA
PA PO BOX 249, 1113 SOFIA, BULGARIA
SN 1311-5065
J9 J ENVIRON PROT ECOL
JI J. Environ. Prot. Ecol.
PY 2014
VL 15
IS 3A
SI SI
BP 1493
EP 1506
PG 14
WC Environmental Sciences
SC Environmental Sciences & Ecology
GA AS0IQ
UT WOS:000343961500028
ER
PT J
AU Sani Bozkurt, S
Vuran, S
AF Sani Bozkurt, Sunagul
Vuran, Sezgin
TI An Analysis of the Use of Social Stories in Teaching Social Skills to
Children with Autism Spectrum Disorders
SO KURAM VE UYGULAMADA EGITIM BILIMLERI
LA English
DT Article
DE Autism Spectrum Disorders; Single Subject Design; Social Skills; Social
Stories; Social Story Interventions
ID DECREASING DISRUPTIVE BEHAVIORS; ASPERGERS-DISORDER; INTERVENTION;
STUDENTS; IMPROVE; SOCIAL-STORIES(TM); COMMUNICATION; DISABILITIES;
INCREASE; MODIFY
AB Social stories play a significant part in the teaching skills and behaviors to children with ASD who lack social skills. The purpose of this study is to analyze studies in which social stories were used for teaching social skills to individuals with Autism Spectrum Disorders (ASD). The present study includes a descriptive review and meta-analysis of single-subject studies that met the criteria. In all studies, social validity, maintenance, and generalization data were collected in 56.25%, 50%, and 31.25% of the respective studies. Although most studies showed that social stories were effective in teaching social skills to children with ASD in the descriptive study, in the meta-analytic study, the mean of Percantage of Non-overlapping Data (PND) scores for all studies was 63.43%, with a range of 0% to 100%. Results suggest that social stories should not yet be considered as evidence based practice for teaching social skills to individuals with ASD. However, social stories seem to be a promising practice that warrants future research. Results will be discussed extensively and future directions for research and practice will be addressed.
C1 [Sani Bozkurt, Sunagul] Anadolu Univ, Eskisehir, Turkey.
[Vuran, Sezgin] Anadolu Univ, Fac Educ, Dept Special Educ, Eskisehir, Turkey.
RP Sani Bozkurt, S (reprint author), Anadolu Univ, Fac Educ, Dept Special Educ, Eskisehir, Turkey.
EM ssbozkurt@anadolu.edu.tr; svuran@anadolu.edu.tr
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Vuran S., 2008, ANKARA U EGITIM BILI, V9, P55
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NR 64
TC 0
Z9 0
PU EDAM
PI ISTANBUL
PA KISIKLI MH ALEMDAG CD YAN YOL SK, SBK IS MERKEZI NO 5, KAT 1 USKUDAR,
ISTANBUL, 81190, TURKEY
SN 1303-0485
J9 KURAM UYGUL EGIT BIL
JI Kuram Uygulamada Egit. Bilim.
PY 2014
VL 14
IS 5
BP 1875
EP 1892
PG 18
WC Education & Educational Research
SC Education & Educational Research
GA AS4NW
UT WOS:000344253900013
ER
PT S
AU Loftis, SF
AF Loftis, Sonya Freeman
BE Wixson, C
TI The Superman on the Spectrum Shaw's Autistic Characters and the
Neurodiversity Movement
SO DILEMMAS AND DELUSIONS: BERNARD SHAW AND HEALTH
SE Shaw-The Annual of Bernard Shaw Studies
LA English
DT Article; Book Chapter
AB As the autistic community searches for historical identity, it is surprising to notice that Bernard Shaw appears on almost every list of famous figures associated with the autism spectrum. The neurodiversity movement's surprising appropriation of Shaw and his characters may seem superficially beneficial to public perceptions about autism and Asperger's syndrome. However, proposing an autistic identity for his St. Joan and Henry Higgins, and possibly even the playwright himself, actually threatens to reaffirm damaging stereotypes of people on the spectrum, perpetuating the erroneous idea that all autistic people are geniuses and savants.
C1 Morehouse Coll, Atlanta, GA 30314 USA.
RP Loftis, SF (reprint author), Morehouse Coll, Atlanta, GA 30314 USA.
CR [Anonymous], 2011, MUDANDSTARS 1007
Atwood Tony, 2007, COMPLETE GUIDE ASPER
Barnet Sylvan, 1956, PMLA, V71, P892
Grandin Temple, 2006, THINKING PICTURES
Janissy, 2011, BEING UNREASONABLE
Linton Simi, 1998, CLAIMING DISABILITY, P5
lnnes Christopher, 1998, CAMBRIDGE COMPANION, P162, DOI 10.1017/CCOL0521562376.008
Murray Dinah, 2006, COMING OUT ASPERGER
Murray Stuart, 2008, REPRESENTING AUTISM, P23
Osteen Mark, 2008, AUTISM REPRESENTATIO, P12
Shaw Bernard, 2000, PYGMALION
Shaw Bernard, 2003, SAINT JOAN
Snyder Sharon L., 2006, CULTURAL LOCATIONS D, P21
Wallis Claudia, 2009, NEW YORK TIMES 1102
Weintraub Rodelle, 2006, LIT TRANSITION 1880, V49, P388
NR 15
TC 0
Z9 0
PU PENNSYLVANIA STATE UNIV PRESS
PI UNIVERSITY PK
PA 215 WAGNER BUILDING, UNIVERSITY PK, PA 16802 USA
SN 0741-5842
J9 SHAW
PY 2014
VL 34
BP 59
EP 74
PG 16
WC Literature, British Isles; Theater
SC Literature; Theater
GA BB4YO
UT WOS:000343520600004
ER
PT J
AU Rama, I
Kontu, E
Pirttimaa, R
AF Rama, Irene
Kontu, Elina
Pirttimaa, Raija
TI Communicative spontaneity in autism: exploring supportive prompts in an
educational context
SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION
LA English
DT Article
DE autism spectrum disorder; four-level antecedent model; spontaneity;
communication
ID LANGUAGE; CHILDREN; INDIVIDUALS; PARADIGM; BEHAVIOR; SPEECH; AAC
AB The purpose of this article was to describe a Finnish research project concerning communicative spontaneity in pupils with autism spectrum disorder (ASD). ASD is a behavioural syndrome which is neurobiological in origin and which involves atypical developmental dysfunctions in the brain. The essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behaviour, interest, and activities. However, an important part of flexible interaction is functional communication between partners, and spontaneity is a critical aspect of functional communication. Communicative spontaneity can be assessed by examining the relationship between environmental antecedents or cues (prompts) and communicative acts. In this study spontaneity is viewed along a continuum, it is, all communicative acts are considered to have some degree of spontaneity and all communication is environmentally prompted or cued. In this research a model of supportive prompts for spontaneity was applied in practice. The model in question is Carter and Hotchkis's four-level antecedent model. The study explored the supportive prompts ethnomethodologically. In the study described six video recordings (each about 30 min) from authentic classroom situations were categorised with the four-level antecedent model. These videos are unusual in Finnish context in that they involve only the teacher and her six pupils with ASD; no helpers are present in the classroom. This study indicated that the four-level antecedent model is a powerful means of analysing the dimensions of spontaneous communication, but the sensitivity of the model can be increased. The authors' suggestion is that the modification of the model may be accomplished by adding new categories (such as non-acting or prompt-seeking behaviour) or editing current categories. The modified four-level antecedent model is more applicable to help teachers develop spontaneity in the communication of pupils with ASD.
C1 [Rama, Irene; Kontu, Elina] Univ Helsinki, Dept Teacher Educ Special Educ, Helsinki, Finland.
[Pirttimaa, Raija] Univ Jyvaskyla, Fac Educ, Jyvaskyla, Finland.
RP Rama, I (reprint author), Univ Helsinki, Dept Teacher Educ Special Educ, Helsinki, Finland.
EM irene.rama@helsinki.fi
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NR 54
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0885-6257
EI 1469-591X
J9 EUR J SPEC NEEDS EDU
JI Eur. J. Spec. Needs Educ.
PY 2014
VL 29
IS 2
BP 184
EP 199
DI 10.1080/08856257.2014.891720
PG 16
WC Education, Special
SC Education & Educational Research
GA AR5BN
UT WOS:000343600300005
ER
PT J
AU Perepa, P
AF Perepa, Prithvi
TI Cultural basis of social 'deficits' in autism spectrum disorders
SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION
LA English
DT Article
DE autism; social skills; parental perceptions; culture; ethnicity
ID STATES-OF-AMERICA; SOUTH-KOREA; PREVALENCE; CHILDREN
AB There is very little research that specifically looks at how autism spectrum disorders are perceived in various communities. This qualitative research was conducted with parents who had children on the autistic spectrum belonging to four different ethnic communities (White British, Somali, West African and South Asian - 63 in total) and living in the UK. The study found that the importance that the parents give to various social skills varied on the basis of their cultural background and the gender of the parent. This is an important aspect to consider while providing support and services to individuals on the autism spectrum and their family members if the services have to be appropriate for their needs. This consideration would also enable the individuals on the autism spectrum to develop appropriate social skills required within their cultural groups. This is a preliminary study and further research on the topic is required.
C1 Univ Northampton, Sch Educ, Northampton, England.
RP Perepa, P (reprint author), Univ Northampton, Sch Educ, Northampton, England.
EM prithvi.perepa@northampton.ac.uk
CR Allison C, 2008, J AUTISM DEV DISORD, V38, P1414, DOI 10.1007/s10803-007-0509-7
Atkin K., 2003, DISABILITY CULTURE I, P161
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Charman T., 2006, SOCIAL COMMUNICATION
Cohen L., 2011, RES METHODS ED, V7th
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Denscombe M, 2003, GOOD RES GUIDE, V2nd
Dyches T. T., 2007, MULTICULTURAL SPECIA, P126
Dyches T. T., 2005, LINKING RES PRACTICE, V1, P1
Fletcher T. V., 2003, RURAL SPECIAL ED Q, V22, P37
Flick U., 2002, INTRO QUALITATIVE RE, V2nd
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Gabel S, 2004, MENT RETARD, V42, P12, DOI 10.1352/0047-6765(2004)42<12:SAICOT>2.0.CO;2
Gunaratnam Y., 2003, RES RACE ETHNICITY
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Kai J., 2006, VALUING DIVERSITY, P97
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Kim Wun Jung, 1997, TRANSCULTURAL CHILD, P183
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Parette P., 2004, FOCUS AUTISM OTHER D, V19, P114, DOI 10.1177/10883576040190020701
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Shakespeare Tom, 2001, RES SOCIAL SCI DISAB, V2, P9, DOI [10.1016/S1479-3547(01)80018-X, DOI 10.1016/S1479-3547(01)80018-X]
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NR 37
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0885-6257
EI 1469-591X
J9 EUR J SPEC NEEDS EDU
JI Eur. J. Spec. Needs Educ.
PY 2014
VL 29
IS 3
BP 313
EP 326
DI 10.1080/08856257.2014.908024
PG 14
WC Education, Special
SC Education & Educational Research
GA AR5BX
UT WOS:000343601200007
ER
PT J
AU Pegoraro, LFL
Setz, EZF
Dalgalarrondo, P
AF Pegoraro, Luiz F. L.
Setz, Eleonore Z. F.
Dalgalarrondo, Paulo
TI Ethological Approach to Autism Spectrum Disorders
SO EVOLUTIONARY PSYCHOLOGY
LA English
DT Article
DE autism; intellectual disability; children; social behavior; ethology
ID CHILDHOOD AUTISM; INFANTILE-AUTISM; NORMAL CHILDREN; BEHAVIOR;
ATTENTION; COMMUNICATION; CONTACT
AB The purpose of the study was to develop a new ethogram for the assessment of children and adolescents with autism spectrum disorders (ASD) and intellectual developmental disorder (IDD) and to test whether this instrument accurately distinguishes ASD participants (n = 61) from IDD participants (n = 61). An ethogram with 88 behavior elements was generated, including body postures, verbalizations, facial expressions, motor stereotypies, head postures, gaze behavior, gestures, and interpersonal distance. Significant differences were detected between both groups in classic ASD behaviors; in behaviors that are deficient in ASD according to established theoretical models, such as symbolic play, gaze direction, gaze following, and use of mental state language; in atypical behaviors that have also been described previously in ethological studies with ASD; and in the nonspecific behaviors of ASD, such as walk, look own body, explore, and cry. The predictive success of a diagnosis of ASD in the logistic regression model with the ethogram's factors was 98.4%. The results suggest that this ethogram is a powerful and useful tool for both the detailed study of the social behaviors of autistic children and adolescents, and for discriminating ASD and IDD.
C1 [Pegoraro, Luiz F. L.; Dalgalarrondo, Paulo] Univ Estadual Campinas, Dept Psychiat, Campinas, SP, Brazil.
[Pegoraro, Luiz F. L.] Univ Estadual Campinas, Pediat Res Ctr, Campinas, SP, Brazil.
[Setz, Eleonore Z. F.] Univ Estadual Campinas, Dept Anim Biol, Campinas, SP, Brazil.
RP Pegoraro, LFL (reprint author), Univ Estadual Campinas, Dept Psychiat, Campinas, SP, Brazil.
EM luizflp@fcm.unicamp.br
RI Setz, Eleonore/C-1050-2012
OI Setz, Eleonore/0000-0001-7638-7086
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NR 49
TC 0
Z9 0
PU EVOLUTIONARY PSYCHOL
PI DAVIE
PA C/O TOOD K SHACKELFORD, DIR, FLORIDA ATLANTIC UNIV, DEPT PSYCHOL, 2912
COLLEGE AVE, DAVIE, FL 33314 USA
SN 1474-7049
J9 EVOL PSYCHOL-US
JI Evol. Psychol.
PY 2014
VL 12
IS 1
BP 223
EP 244
PG 22
WC Psychology, Experimental
SC Psychology
GA AR6LS
UT WOS:000343695600015
PM 25299761
ER
PT S
AU Wetie, AGN
Dekroon, RM
Mocanu, M
Ryan, JP
Darie, CC
Woods, AG
AF Wetie, Armand G. Ngounou
Dekroon, Robert M.
Mocanu, Mihaela
Ryan, Jeanne P.
Darie, Costel C.
Woods, Alisa G.
BE Woods, AG
Darie, CC
TI Mass Spectrometry for the Study of Autism and Neurodevelopmental
Disorders
SO ADVANCEMENTS OF MASS SPECTROMETRY IN BIOMEDICAL RESEARCH
SE Advances in Experimental Medicine and Biology
LA English
DT Article; Book Chapter
ID FRAGILE-X-SYNDROME; LEMLI-OPITZ-SYNDROME; EXPANDED FMR1 ALLELES; INTRON
1 METHYLATION; SPECTRUM DISORDERS; PROTEOMIC ANALYSIS;
GEL-ELECTROPHORESIS; MENTAL-RETARDATION; BEHAVIORAL-PHENOTYPE;
ALZHEIMERS-DISEASE
AB Mass spectrometry (MS) has been increasingly used to study central nervous system disorders, including autism spectrum disorders (ASDs). The first studies of ASD using MS focused on the identification of external toxins, but current research is more directed at understanding endogenous protein changes that occur in ASD (ASD proteomics). This chapter focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with autism such as fragile X syndrome and Smith-Lemli-Opitz syndrome.
C1 [Wetie, Armand G. Ngounou; Darie, Costel C.; Woods, Alisa G.] Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, Potsdam, NY 13699 USA.
[Dekroon, Robert M.; Mocanu, Mihaela] Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA.
[Ryan, Jeanne P.; Woods, Alisa G.] SUNY Coll Plattsburgh, Neuropsychol Clin, Plattsburgh, NY 12901 USA.
[Ryan, Jeanne P.; Woods, Alisa G.] SUNY Coll Plattsburgh, Psychoeduc Serv, Plattsburgh, NY 12901 USA.
RP Woods, AG (reprint author), Clarkson Univ, Dept Chem & Biomol Sci, Biochem & Prote Grp, 8 Clarkson Ave, Potsdam, NY 13699 USA.
EM awoods@clarkson.edu
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NR 124
TC 1
Z9 1
PU SPRINGER-VERLAG BERLIN
PI BERLIN
PA HEIDELBERGER PLATZ 3, D-14197 BERLIN, GERMANY
SN 0065-2598
BN 978-3-319-06068-2; 978-3-319-06067-5
J9 ADV EXP MED BIOL
JI Adv.Exp.Med.Biol.
PY 2014
VL 806
BP 525
EP 544
DI 10.1007/978-3-319-06068-2_26
D2 10.1007/978-3-319-06068-2
PG 20
WC Biology; Medicine, Research & Experimental
SC Life Sciences & Biomedicine - Other Topics; Research & Experimental
Medicine
GA BB3UB
UT WOS:000343050500027
ER
PT J
AU Ahn, Y
Narous, M
Tobias, R
Rho, JM
Mychasiuk, R
AF Ahn, Younghee
Narous, Mariam
Tobias, Rose
Rho, Jong M.
Mychasiuk, Richelle
TI The Ketogenic Diet Modifies Social and Metabolic Alterations Identified
in the Prenatal Valproic Acid Model of Autism Spectrum Disorder
SO DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Play behavior; Mitochondria; Autism; Valproic acid; Metabolism;
Respiration
ID RETT-SYNDROME; CORTICAL DEVELOPMENT; RATS; PLAY; EXPOSURE; BRAIN;
CHILDHOOD; CHILDREN; BEHAVIOR; DISEASE
AB Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by abnormal social interactions, communication deficits and stereotyped or repetitive behaviors. Although the etiology of ASD remains elusive, converging lines of research indicate that mitochondrial dysfunction may play a substantive role in disease pathophysiology. Without an established causal link, the generation of therapeutic targets for ASD has been relatively unsuccessful and has focused solely on individual symptoms. The ketogenic diet (KD) is a high-fat low-carbohydrate diet that has previously been used for the treatment of intractable epilepsy and is known to enhance mitochondrial function. The purpose of this study was to determine if the KD could reverse the social deficits and mitochondrial dysfunction identified in the prenatal valproic acid (VPA) rodent model of ASD. Sprague-Dawley dams were administered VPA or saline on gestational day 12.5. The pups were treated with the KD or their standard diet (SD) for 10 days beginning on postnatal day 21 (PD21). On PD35 juvenile play behavior was tested with the play-fighting paradigm and rats were then sacrificed for mitochondrial bioenergetic analysis. The offspring exposed to VPA prenatally demonstrated a significant decrease in the number of play initiations/attacks and this was reversed with the KD. Prenatal VPA exposure also disrupted the pattern of play responses; VPA/SD animals used complete rotations more often than saline control animals. Treatment with the KD did not affect the number of complete rotations. In addition, while prenatal exposure to VPA altered mitochondrial respiration, the KD was able to restore aspects of bioenergetic dysfunction. As the KD was able to modify complex social behaviors and mitochondrial respiration, it may be a useful treatment option for ASD. Future studies will need to examine the effectiveness of the KD to reverse the two additional core deficits of ASD and to explore various treatment regimens to determine optimal treatment duration and formulation. (C) 2014 S. Karger AG, Basel
C1 [Ahn, Younghee; Narous, Mariam; Tobias, Rose; Rho, Jong M.; Mychasiuk, Richelle] Univ Calgary, Fac Med, Alberta Childrens Hosp Res Inst Child & Maternal, Dept Pediat, Calgary, AB T2N 1N4, Canada.
[Rho, Jong M.] Univ Calgary, Fac Med, Alberta Childrens Hosp Res Inst Child & Maternal, Dept Clin Neurosci, Calgary, AB T2N 1N4, Canada.
RP Mychasiuk, R (reprint author), Univ Calgary, Dept Pediat, Heritage Med Res Bldg Room 273,3330 Hosp Dr NW, Calgary, AB T2N 1N4, Canada.
EM rmmychas@ucalgary.ca
FU Alberta Children's Hospital Research Institute for Child and Maternal
Health; Alberta Children's Hospital Foundation
FX The authors would like to thank Professor Bin Hu and Taylor Chomiak, PhD
(University of Calgary and the Hotchkiss Brain Institute), for helping
to establish the VPA model in our hands and for guidance and thoughtful
input on this project. This study was supported by the Alberta
Children's Hospital Research Institute for Child and Maternal Health as
well as the Alberta Children's Hospital Foundation.
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NR 50
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0378-5866
EI 1421-9859
J9 DEV NEUROSCI-BASEL
JI Dev. Neurosci.
PY 2014
VL 36
IS 5
BP 371
EP 380
DI 10.1159/000362645
PG 10
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AQ7UL
UT WOS:000343024600002
PM 25011527
ER
PT J
AU Yamamoto, A
Uchiyama, K
Nara, T
Nishirnura, N
Hayasaka, M
Hanaoka, K
Yamamoto, T
AF Yamamoto, Ayako
Uchiyama, Koji
Nara, Tomoka
Nishirnura, Naornichi
Hayasaka, Michiko
Hanaoka, Kazunori
Yamamoto, Tatsuro
TI Structural Abnormalities of Corpus Callosum and Cortical Axonal Tracts
Accompanied by Decreased Anxiety-Like Behavior and Lowered Sociability
in Spock3-Mutant Mice
SO DEVELOPMENTAL NEUROSCIENCE
LA English
DT Article
DE Spock3; Heparan sulfate proteoglycan; Corpus callosum; Cortical axonal
tract; Anxiety-like behavior; Social behavior
ID HEPARAN-SULFATE; NERVOUS-SYSTEM; AUTISM; FOREBRAIN; TESTICAN-2; FAMILY;
MATRIX; CELLS; PROTEOGLYCANS; EXPRESSION
AB Spock3/Testican-3 is a nervous system-expressed heparan sulfate proteoglycan belonging to a subgroup of the BM-40/SPARC/osteonectin family, the role of which in brain development is unclear. Because Spock1, a member of the Spock family, inhibits their attachment to substrates and the neurite outgrowth of cultured neuronal cells, Spock3 is also thought to be similarly involved in the neuronal development. In the present study, we established a Spock3-mutant mouse harboring a deletion extending from the presumptive upstream regulatory region to exon 4 of the Spock3 locus and performed histological and behavioral studies on these mutant mice. In wild-type (WT) mice, all Spock members were clearly expressed during brain development. In adults, intense Spock1 and Spock2 expressions were observed throughout the entire brain; whereas, Spock3 expression was no longer visible except in the thalamic nuclei. Thus, Spock3 expression is mostly confined to the developmental stage of the brain. In adult mutant mice, the cells of all cortical layers were swollen. The corpus callosum was narrowed around the central region along the rostral-caudal axis and many small spaces were observed without myelin sheaths throughout the entire corpus callosum. In addition, the cortical input and output fibers did not form into thick bundled fibers as well as the WT counterparts did. Moreover, a subpopulation of corticospinal axonal fibers penetrated into the dorsal striatum with moderately altered orientations. Consistent with these modifications of brain structures, the mutant mice exhibited decreased anxiety-like behavior and lowered sociability. Together, these results demonstrate that Spock3 plays an important role in the formation or maintenance of major neuronal structures in the brain. (C) 2014 S. Karger AG, Basel
C1 [Yamamoto, Ayako; Nara, Tomoka; Nishirnura, Naornichi; Yamamoto, Tatsuro] Nayoro City Univ, Fac Hlth & Welf Sci, Dept Nutr Sci, Nayoro, Hokkaido, Japan.
[Uchiyama, Koji; Hayasaka, Michiko; Hanaoka, Kazunori] Kitasato Univ, Sch Sci, Dept Biosci, Div Mol Embryol, Sagamihara, Kanagawa 228, Japan.
RP Yamamoto, T (reprint author), Nayoro City Univ, Fac Hlth & Welf Sci, Dept Nutr Sci, Kita 8-1,Nishi 4, Nayoro, Hokkaido, Japan.
EM tyama@nayoro.ac.jp
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NR 42
TC 1
Z9 1
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0378-5866
EI 1421-9859
J9 DEV NEUROSCI-BASEL
JI Dev. Neurosci.
PY 2014
VL 36
IS 5
BP 381
EP 395
DI 10.1159/000363101
PG 15
WC Developmental Biology; Neurosciences
SC Developmental Biology; Neurosciences & Neurology
GA AQ7UL
UT WOS:000343024600003
PM 25138526
ER
PT J
AU Vatanoglu-Lutz, EE
Ataman, AD
Bicer, S
AF Vatanoglu-Lutz, Emine Elif
Ataman, Ahmet Dogan
Bicer, Suat
TI Medicine in Stamps: History of Autism Spectrum Disorder (ASD) Through
Philately
SO JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH
LA English
DT Article
DE Autism; Autism Spectrum Disorder; Leo Kanner; Hans Asperger; history;
philately
ID SEROTONIN; ADULTS; KANNER
AB Autism, in a wider perspective Autism Spectrum Disorder (ASD), is perhaps the most prolifically researched of all child psychiatric disorders. The greatest contributions to our understanding about the disease have come from individual clinician researchers like Leo Kanner and Hans Asperger. The concept and definition of the disorder have changed greatly over the years, even socio-political shifts as well as research findings have radically altered our understanding of the syndrome as well as the care and treatment offered to people with autism. This paper provides an overview on the discovery of Autism Spectrum Disorders through philately.
C1 [Vatanoglu-Lutz, Emine Elif; Ataman, Ahmet Dogan; Bicer, Suat] Yeditepe Univ, Fac Med, Istanbul, Turkey.
RP Vatanoglu-Lutz, EE (reprint author), Yeditepe Univ, Fac Med, Istanbul, Turkey.
EM drvatanoglu@yahoo.com
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NR 17
TC 0
Z9 0
PU JOURNAL NEUROLOGICAL SCIENCES
PI BORNOVA-IZMIR
PA EGE UNIV HOSP. FAC MED, DEPT NEUROSURGERY, BORNOVA-IZMIR, TR35100,
TURKEY
SN 1302-1664
J9 J NEUROL SCI-TURK
JI J. Neurol. Sci.-Turk.
PY 2014
VL 31
IS 2
BP 426
EP 434
PG 9
WC Neurosciences
SC Neurosciences & Neurology
GA AR1UH
UT WOS:000343369600027
ER
PT J
AU Usui, N
Co, M
Konopka, G
AF Usui, Noriyoshi
Co, Marissa
Konopka, Genevieve
TI Decoding the Molecular Evolution of Human Cognition Using Comparative
Genomics
SO BRAIN BEHAVIOR AND EVOLUTION
LA English
DT Article
DE Human brain evolution; FOXP2; Autism; Autism spectrum disorder;
Cognitive diseases; Cognition; Comparative genomics; Weighted gene
coexpression network analysis
ID HUMAN BRAIN EVOLUTION; PERVASIVE DEVELOPMENTAL DISORDERS; COEXPRESSION
NETWORK ANALYSIS; MODERATE ALZHEIMERS-DISEASE; AUTISM SPECTRUM;
GENE-EXPRESSION; NEURODEVELOPMENTAL DISORDERS; TRANSCRIPTOMIC ANALYSIS;
LANGUAGE DISORDERS; PREFRONTAL CORTEX
AB Identification of genetic and molecular factors responsible for the specialized cognitive abilities of humans is expected to provide important insights into the mechanisms responsible for disorders of cognition such as autism, schizophrenia and Alzheimer's disease. Here, we discuss the use of comparative genomics for identifying salient genes and gene networks that may underlie cognition. We focus on the comparison of human and non-human primate brain gene expression and the utility of building gene coexpression networks for prioritizing hundreds of genes that differ in expression among the species queried. We also discuss the importance of and methods for functional studies of the individual genes identified. Together, this integration of comparative genomics with cellular and animal models should provide improved systems for developing effective therapeutics for disorders of cognition. (C) 2014 S. Karger AG, Basel
C1 [Usui, Noriyoshi; Co, Marissa; Konopka, Genevieve] Univ Texas SW Med Ctr Dallas, Dept Neurosci, Dallas, TX 75390 USA.
RP Konopka, G (reprint author), Univ Texas SW Med Ctr Dallas, Dept Neurosci, 5323 Harry Hines Blvd,ND4-300, Dallas, TX 75390 USA.
EM genevieve.konopka@utsouthwestern.edu
FU NIMH [R00MH090238]; March of Dimes Basil O'Connor Starter Scholar
Research Award; Once Upon a Time Foundation; CREW Dallas
FX N.U. is a research fellow of The Uehara Memorial Foundation. G.K. is a
Jon Heighten Scholar in Autism Research at UT Southwestern. This work
was supported by the NIMH (R00MH090238), a March of Dimes Basil O'Connor
Starter Scholar Research Award, Once Upon a Time Foundation, and CREW
Dallas to G.K.
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NR 110
TC 0
Z9 0
PU KARGER
PI BASEL
PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
SN 0006-8977
EI 1421-9743
J9 BRAIN BEHAV EVOLUT
JI Brain Behav. Evol.
PY 2014
VL 84
IS 2
BP 103
EP 116
DI 10.1159/000365182
PG 14
WC Behavioral Sciences; Neurosciences; Zoology
SC Behavioral Sciences; Neurosciences & Neurology; Zoology
GA AQ4DY
UT WOS:000342743900004
PM 25247723
ER
PT J
AU Houser, L
McCarthy, M
Lawer, L
Mandell, D
AF Houser, Linda
McCarthy, Megan
Lawer, Lindsay
Mandell, David
TI A Challenging Fit: Employment, Childcare, and Therapeutic Support in
Families of Children With Autism Spectrum Disorders
SO JOURNAL OF SOCIAL SERVICE RESEARCH
LA English
DT Article
DE Autism; caregivers/caregiving; children; disability; parenting; social
support; workplace
ID BEHAVIORAL-DISORDERS; PARENTING STRESS; MOTHERS; PRESCHOOL; FATHERS;
LEAVE; NEEDS; WORK
AB Studies of families with children with autism spectrum disorder (ASD) have documented substantial concerns at the intersection of work and family life. Using a phenomenological study design with intensive interview and survey data from parents of 37 children with ASD diagnoses, the authors explore families' experiences prior to, during, and soon after their child's ASD diagnosis. Drawing from parents' narratives, the authors identify and discuss 3 obstacles to a satisfactory and sustainable degree of work-family life fit: performance pressures, demands of care coordination, and concerns about caregiver quality and accessibility. Recommendations derived from parent-reported strategies for addressing these obstacles include: improving the quality of and access to care management, developing and making accessible a variety of options for combining therapy and care, and expanding awareness of and access to family leave policies and other work flexibility options. As states and locales develop innovative care management strategies, intervention options, and family support programs, additional research is needed to assess effectiveness in reducing parental stress and enhancing well-being for children and families. This research suggests that incorporating the voices of both parents and children in future research efforts is important to a full understanding of social service system success.
C1 [Houser, Linda] Widener Univ, Ctr Social Work Educ, Chester, PA 19013 USA.
[McCarthy, Megan; Mandell, David] Univ Penn, Ctr Mental Hlth Policy & Serv Res, Philadelphia, PA 19104 USA.
[Lawer, Lindsay] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA.
RP Houser, L (reprint author), Widener Univ, One Univ Pl, Chester, PA 19013 USA.
EM ldhouser@widener.edu
RI Mandell, David/H-2730-2012
OI Mandell, David/0000-0001-8240-820X
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NR 30
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0148-8376
EI 1540-7314
J9 J SOC SERV RES
JI J. Soc. Serv. Res.
PY 2014
VL 40
IS 5
SI SI
BP 681
EP 698
DI 10.1080/01488376.2014.930944
PG 18
WC Social Work
SC Social Work
GA AP8HY
UT WOS:000342321100007
ER
PT J
AU Cowan, DG
Vanman, EJ
Nielsen, M
AF Cowan, David G.
Vanman, Eric J.
Nielsen, Mark
TI Motivated empathy: The mechanics of the empathic gaze
SO COGNITION & EMOTION
LA English
DT Article
DE Emotion; Empathy; Eye-tracking; Social interaction; Eye-gaze patterns
ID HIGH-FUNCTIONING AUTISM; INDIVIDUAL-DIFFERENCES; ASPERGER-SYNDROME;
MIND; ATTENTION; VOLUNTARY; ADULTS; FACE; EYES
AB Successful human social interactions frequently rely on appropriate interpersonal empathy and eye contact. Here, we report a previously unseen relationship between trait empathy and eye-gaze patterns to affective facial features in video-based stimuli. Fifty-nine healthy adult participants had their eyes tracked while watching a three-minute long "sad" and "emotionally neutral" video. The video stimuli portrayed the head and shoulders of the same actor recounting a fictional personal event. Analyses revealed that the greater participants' trait emotional empathy, the more they fixated on the eye-region of the actor, regardless of the emotional valence of the video stimuli. Our findings provide the first empirical evidence of a relationship between empathic capacity and eye-gaze pattern to the most affective facial region ( eyes).
C1 [Cowan, David G.; Vanman, Eric J.; Nielsen, Mark] Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
RP Cowan, DG (reprint author), Univ Queensland, Sch Psychol, Brisbane, Qld 4072, Australia.
EM d.cowan@psy.uq.edu.au
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Zaki J, 2012, NAT NEUROSCI, V15, P675, DOI 10.1038/nn.3085
NR 24
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0269-9931
EI 1464-0600
J9 COGNITION EMOTION
JI Cogn. Emot.
PY 2014
VL 28
IS 8
BP 1522
EP 1530
DI 10.1080/02699931.2014.890563
PG 9
WC Psychology, Experimental
SC Psychology
GA AP7XA
UT WOS:000342290300016
PM 24568562
ER
PT J
AU McGuire, J
Langdon, R
Brune, M
AF McGuire, Jonathan
Langdon, Robyn
Bruene, Martin
TI Moral cognition in schizophrenia
SO COGNITIVE NEUROPSYCHIATRY
LA English
DT Article
DE schizophrenia; moral cognition; moral judgement interview
ID ANTISOCIAL-BEHAVIOR; SPECTRUM DISORDERS; SOCIAL COGNITION;
DECISION-MAKING; MENTAL-DISORDER; JUDGMENT; VIOLENCE; MIND; AUTISM;
METAANALYSIS
AB Introduction. Disordered moral behaviour and understanding of moral rules were described early in the literature on schizophrenia; however, moral cognition has received scant attention in spite of a large literature focused on social cognitive impairments and violent behaviour in schizophrenia.
Methods. We conducted a narrative synthesis of the literature on violence, moral judgement and schizophrenia.
Results. Initial empirical research into moral cognition in schizophrenia did not fully account for the basic- and social-cognitive deficits now known to characterise schizophrenia. Importantly, research into moral cognition in autism and psychopathy, disorders in part characterised by social cognitive impairments indicates subtle patterns of difference to the moral cognition of control participants. Recent neuroeconomic studies of moral cognition in schizophrenia have indicated that individuals with schizophrenia display subtle dysfunction in their fairness-related behaviours, but not in their propensity to engage in altruistic punishment.
Conclusions. Further research has the potential to broaden our understanding of what is intact and what is impaired in moral cognition in schizophrenia and also to inform our theories of the structures subserving moral judgement in the general population. Furthermore, a more thorough understanding of moral cognitive impairments in schizophrenia may have implications for both legal process and psychosocial rehabilitation.
C1 [McGuire, Jonathan; Langdon, Robyn] Macquarie Univ, CCD Ctr Excellence Cognit & Its Disorders, Dept Cognit Sci, Sydney, NSW 2109, Australia.
[Bruene, Martin] Ruhr Univ Bochum, Div Cognit Neuropsychiat & Psychiat Prevent Med, LWL Univ Hosp Bochum, Bochum, Germany.
RP McGuire, J (reprint author), Macquarie Univ, CCD Ctr Excellence Cognit & Its Disorders, Dept Cognit Sci, Sydney, NSW 2109, Australia.
EM jonathan.mcguire@mq.edu.au
FU Australian Research Council [DP120101014]
FX This work was supported by the Australian Research Council (Discovery
Project [grant number DP120101014] to R.L. and M.B.).
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NR 76
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1354-6805
EI 1464-0619
J9 COGN NEUROPSYCHIATRY
JI Cogn. Neuropsychiatry
PY 2014
VL 19
IS 6
BP 495
EP 508
DI 10.1080/13546805.2014.928195
PG 14
WC Psychiatry
SC Psychiatry
GA AP7VP
UT WOS:000342286000003
PM 24963651
ER
PT J
AU Gillespie-Smith, K
Doherty-Sneddon, G
Hancock, PJB
Riby, DM
AF Gillespie-Smith, Karri
Doherty-Sneddon, Gwyneth
Hancock, Peter J. B.
Riby, Deborah M.
TI That looks familiar: attention allocation to familiar and unfamiliar
faces in children with autism spectrum disorder
SO COGNITIVE NEUROPSYCHIATRY
LA English
DT Article
DE social attention; self; familiarity; autism; face perception
ID SELF-RELEVANT INFORMATION; WILLIAMS-SYNDROME; FIXATION PATTERNS;
EYE-MOVEMENTS; RECOGNITION; INDIVIDUALS; PERCEPTION; TRACKING;
REPRESENTATION; COMPETENCE
AB Introduction. Existing eye-tracking literature has shown that both adults and children with autism spectrum disorders (ASD) show fewer and slower fixations on faces. Despite this reduced saliency and processing of other faces, recognition of their own face is reported to be more "typical" in nature. This study uses eye-tracking to explore the typicality of gaze patterns when children with ASD attend their own faces compared to other familiar and unfamiliar faces.
Methods. Eye-tracking methodology was used to explore fixation duration and time taken to fixate on the Eye and Mouth regions of familiar, unfamiliar and Self Faces. Twenty-one children with ASD (9-16 years) were compared to typically developing matched groups.
Results. There were no significant differences between children with ASD and typically matched groups for fixation patterns to the Eye and Mouth areas of all face types (familiar, unfamiliar and self). Correlational analyses showed that attention to the Eye area of unfamiliar and Self Faces was related to socio-communicative ability in children with ASD.
Conclusions. Levels of socio-communicative ability in children with ASD were related to gaze patterns on unfamiliar and Self Faces, but not familiar faces. This lack of relationship between ability and attention to familiar faces may indicate that children across the autism spectrum are able to fixate these faces in a similar way. The implications for these findings are discussed.
C1 [Gillespie-Smith, Karri; Hancock, Peter J. B.] Univ Stirling, Dept Psychol, Sch Nat Sci, Stirling FK9 4LA, Scotland.
[Doherty-Sneddon, Gwyneth] Northumbria Univ, Fac Arts Design & Social Sci, Newcastle Upon Tyne NE1 8ST, Tyne & Wear, England.
[Riby, Deborah M.] Univ Durham, Dept Psychol, Durham DH1 3LE, England.
RP Gillespie-Smith, K (reprint author), Heriot Watt Univ, Sch Life Sci, Dept Psychol, Edinburgh EH14 1AS, Midlothian, Scotland.
EM K.GillespieSmith@hw.ac.uk
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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 1354-6805
EI 1464-0619
J9 COGN NEUROPSYCHIATRY
JI Cogn. Neuropsychiatry
PY 2014
VL 19
IS 6
BP 554
EP 569
DI 10.1080/13546805.2014.943365
PG 16
WC Psychiatry
SC Psychiatry
GA AP7VP
UT WOS:000342286000007
PM 25101966
ER
PT J
AU Diener, ML
Wright, CA
Smith, KN
Wright, SD
AF Diener, Marissa L.
Wright, Cheryl A.
Smith, Katherine N.
Wright, Scott D.
TI Assessing Visual-Spatial Creativity in Youth on the Autism Spectrum
SO CREATIVITY RESEARCH JOURNAL
LA English
DT Article
ID DISORDER; ABILITIES; CHILDREN; RELIABILITY; EMPLOYMENT; DIAGNOSIS;
EDUCATION; INCREASE; TALENT; LEVEL
AB The goal of this study was to develop a measure of creativity that builds on the strengths of youth with autism spectrum disorders (ASD). The assessment of creativity focused on the visual-spatial abilities of these youth using 3D modeling software. One of the objectives of the research was to develop a measure of creativity in an authentic learning environment that built on the interests and creative talents of youth with ASD. Traditional creativity tests may underestimate the creativity of youth with ASD because of the tests' constrained nature, such as having a time limit, being limited to paper and pencil, testing in an over-or understimulating environment, and overlooking visual-spatial ability. A random selection of 27 student 3D design projects (out of approximately 100 projects) was assessed using dimensions of fluency, flexibility, originality, and elaboration. The validity of this assessment was examined by comparing the creativity scores of the 27 projects to the creativity scores given by a team of Google experts (3D designers and software engineers). Results indicated that the scores were significantly correlated for three of the four dimensions of the creativity assessment. There was high inter-rater reliability among coders (M = .82) using intra-class correlation (ICC). Results suggest that this assessment process could be used as a visual-spatial creativity measure for youth with ASD, as well as a creativity measure used by employers to determine real-world creative potential in their employees, particularly those with neurodiversity.
C1 [Diener, Marissa L.; Wright, Cheryl A.; Smith, Katherine N.; Wright, Scott D.] Univ Utah, Salt Lake City, UT 84112 USA.
RP Wright, CA (reprint author), 225 South 1400 East,Rm 228 AEB, Salt Lake City, UT 84112 USA.
EM cheryl.wright@fcs.utah.edu
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NR 70
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1040-0419
EI 1532-6934
J9 CREATIVITY RES J
JI Creativ. Res. J.
PY 2014
VL 26
IS 3
BP 328
EP 337
DI 10.1080/10400419.2014.929421
PG 10
WC Psychology, Educational; Psychology, Multidisciplinary
SC Psychology
GA AP7ZT
UT WOS:000342298100008
ER
PT J
AU Mochizuki, AA
Sudo, MM
Kirino, E
Itoh, K
AF Mochizuki, Akito Azumane
Sudo, Michiko Mochizuki
Kirino, Eiji
Itoh, Kenji
TI Brain activation associated with motor imagery of coordination exercises
and social abilities
SO EUROPEAN JOURNAL OF SPORT SCIENCE
LA English
DT Article
DE Coaching; exercise; cognition
ID MIRROR NEURON SYSTEM; JOINT ACTION; COGNITION; PERCEPTION; OPERATIONS;
FOLLOWER; AUTISM; LEADER
AB The purposes of the present study were: (1) to investigate the brain activation associated with coordination exercises done by one person and those by two persons and (2) to examine the interrelationships between the brain activation and social abilities. We were interested in testing the hypothesis that viewing two-person coordination exercises evokes more sophisticated brain activation than viewing one-person coordination exercises. Thirty Japanese college students served as subjects. There were two sessions in this study: the functional magnetic resonance imaging (fMRI) session and the social ability session. In the fMRI session, the subjects were instructed to imagine they were performing coordination exercises. Also, we examined the social abilities from the viewpoint of empathising. Empathising was measured by self-reports on the Systemising, Empathy and Autism Spectrum Quotients (SQ, EQ and AQ). Regarding brain activation, blood oxygenation level dependent (BOLD) activation was significant in specific areas such as the left cuneus (Brodmann area: BA 17) when the subjects imagined they were performing exercises involving two persons, as compared with the cases when they imagined they were performing exercises involving only one person. The fMRI results showed that exercises done by two persons require more sophisticated communication than those done by one person. Furthermore, the results of this study suggested that those with more autistic traits may undergo difficulties in the exercises done by two persons, especially in the case of playing a role as a follower.
C1 [Mochizuki, Akito Azumane] Teikyo Heisei Univ, Fac Community Hlth Care, Ichihara, Chiba 2900193, Japan.
[Sudo, Michiko Mochizuki] Juntendo Univ, Sch Hlth & Sports Sci, Chiba, Japan.
[Kirino, Eiji] Juntendo Univ, Sch Med, Tokyo 113, Japan.
[Itoh, Kenji] Teikyo Heisei Univ, Fac Hlth & Med Sci, Tokyo, Japan.
RP Mochizuki, AA (reprint author), Teikyo Heisei Univ, Fac Community Hlth Care, 4-1 Uruidominami, Ichihara, Chiba 2900193, Japan.
EM akey1223@gmail.com
FU Ministry of Education, Culture, Sports, Science and Technology
[21500604]
FX The research reported in this paper was partially supported by a
Grant-in-Aid for Scientific Research from the Ministry of Education,
Culture, Sports, Science and Technology [grant number #21500604].
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NR 34
TC 0
Z9 0
PU TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND
SN 1746-1391
EI 1536-7290
J9 EUR J SPORT SCI
JI Eur. J. Sport Sci.
PY 2014
VL 14
IS 7
BP 671
EP 677
DI 10.1080/17461391.2014.893019
PG 7
WC Sport Sciences
SC Sport Sciences
GA AP7VN
UT WOS:000342285700005
PM 24621266
ER
PT J
AU Kaltiala-Heino, R
Eronen, M
Putkonen, H
AF Kaltiala-Heino, Riittakerttu
Eronen, Markku
Putkonen, Hanna
TI Violent girls in adolescent forensic care are more often psychotic and
traumatized than boys in the same level of care
SO JOURNAL OF FORENSIC PSYCHIATRY & PSYCHOLOGY
LA English
DT Article
DE violence; aggression; adolescent forensic psychiatry; gender difference
ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS;
PSYCHIATRIC RATING-SCALE; GENDER-DIFFERENCES; CONDUCT DISORDER;
SEX-DIFFERENCES; CHILDRENS DEPRESSION; AGGRESSIVE-BEHAVIOR;
MENTAL-DISORDERS; UNITS
AB Background: Most research on violent perpetrators is based on male samples. Aims: To compare girls and boys admitted to an adolescent forensic unit due to physically violent and/or sexually coercive behavior. Methods: On an adolescent forensic ward, demographics, family, treatment, crime and victimization histories, diagnose, psychiatric symptoms and violent behaviors during care of all adolescents are collected in a cumulative database. These were compared between girls and boys admitted due to violent behaviors. Results: Girls were more often diagnosed with schizophrenia group psychoses. The symptom profiles and violence risk ratings did not differ by sex. The girls were less antisocial in general. They were more suicidal and displayed more promiscuous behaviors, and they had more commonly been victims of sexual abuse. During inpatient care they displayed much more often violent and uncontrollable behaviors than the boys. Conclusion: Treatment approaches that respond to the special needs of aggressive girls are required.
C1 [Kaltiala-Heino, Riittakerttu] Univ Tampere, Sch Med, FIN-33101 Tampere, Finland.
[Kaltiala-Heino, Riittakerttu; Eronen, Markku] Vanha Vaasa Hosp, Vaasa, Finland.
[Kaltiala-Heino, Riittakerttu] Tampere Univ Hosp, Dept Adolescent Psychiat, Tampere, Finland.
[Putkonen, Hanna] Kellokoski Hosp, Hosp Dist Helsinki & Uusimaa, Kellokoski, Finland.
RP Kaltiala-Heino, R (reprint author), Univ Tampere, Sch Med, FIN-33101 Tampere, Finland.
EM merihe@uta.fi
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NR 74
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1478-9949
EI 1478-9957
J9 J FORENSIC PSYCHI PS
JI J. Forensic Psychiatry Psychol.
PY 2014
VL 25
IS 6
BP 636
EP 657
DI 10.1080/14789949.2014.943795
PG 22
WC Criminology & Penology; Psychiatry
SC Criminology & Penology; Psychiatry
GA AP8HU
UT WOS:000342320700002
ER
PT J
AU Kim, J
AF Kim, Jinah
TI The trauma of parting: Endings of music therapy with children with
autism spectrum disorders
SO NORDIC JOURNAL OF MUSIC THERAPY
LA English
DT Article
DE trauma; endings; autism spectrum disorders; improvisational music
therapy
ID ATTACHMENT; BEHAVIORS; MOTHERS
AB Some children with autism spectrum disorders (ASD) are intensely affected by separation and changes in therapy. They tend to display varying degrees of difficulties in dealing with holidays, breaks and the closure of music therapy. This difficulty is often intensified when the child is strongly attached to the therapist and has precarious awareness of what ending means, and yet lacks the capacity for emotional self-regulation. Preparing children for parting might bring about excessive anxiety, overwhelming distress and even the fear of death and dying that the child finds difficult to contain or to articulate in words.
This article explores and examines clinical phenomena and issues of ending in improvisational music therapy with children with ASD and how the difficulty is addressed, contained and transformed in spontaneous interaction (both musical and non-musical), between the therapist and the child. In order to enhance a better understanding of the phenomena of endings, some fundamental aspects of the mutual music making process in music therapy and its consequences in the therapeutic relationship are described and linked to issues of endings in different stages of music therapy. The role of the music and the therapist in helping the child to cope with endings in music therapy will be discussed in depth through clinical vignettes within the psychodynamic perspectives.
C1 Jeonju Univ, Arts Therapy Res Ctr, Dept Arts Therapy, Jeonju, South Korea.
RP Kim, J (reprint author), Jeonju Univ, Arts Therapy Res Ctr, Dept Arts Therapy, Jeonju, South Korea.
EM kim_jinah@hotmail.com
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NR 41
TC 0
Z9 0
PU GRIEG ACADEMY
PI BERGEN
PA UNIV BERGEN, DEPT MUSIC, LARS HILLES GATE 3, BERGEN, N-5015, NORWAY
SN 0809-8131
EI 1944-8260
J9 NORD J MUSIC THER
JI Nord. J. Music Ther.
PY 2014
VL 23
IS 3
BP 263
EP 281
DI 10.1080/08098131.2013.854269
PG 19
WC Rehabilitation
SC Rehabilitation
GA AP7ZA
UT WOS:000342296100005
ER
PT J
AU Lepage, JF
Lortie, M
Deal, CL
Theoret, H
AF Lepage, Jean-Francois
Lortie, Melissa
Deal, Cheri L.
Theoret, Hugo
TI Empathy, autistic traits, and motor resonance in adults with Turner
syndrome
SO SOCIAL NEUROSCIENCE
LA English
DT Article
DE Mirror neurons; Social cognition; Empathy; TMS; X-chromosome; Autism
ID HIGH-FUNCTIONING AUTISM; X-LINKED GENES; SPECTRUM DISORDERS;
CORTICOSPINAL EXCITABILITY; ASPERGER-SYNDROME; MIRROR NEURONS;
RECOGNITION DEFICITS; EMBODIED EMPATHY; FEAR RECOGNITION; HAND GESTURES
AB Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.
C1 [Lepage, Jean-Francois; Lortie, Melissa; Theoret, Hugo] Univ Montreal, Dept Psychol, Montreal, PQ H3C 3J7, Canada.
[Lepage, Jean-Francois; Lortie, Melissa; Deal, Cheri L.; Theoret, Hugo] Ctr Hosp Univ, Ctr Rech, Montreal, PQ, Canada.
RP Lepage, JF (reprint author), Univ Montreal, Dept Psychol, CP 6128,Succ Ctr Ville, Montreal, PQ H3C 3J7, Canada.
EM jf.lepage@gmail.com
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NR 54
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1747-0919
EI 1747-0927
J9 SOC NEUROSCI-UK
JI Soc. Neurosci.
PY 2014
VL 9
IS 6
BP 601
EP 609
DI 10.1080/17470919.2014.944317
PG 9
WC Neurosciences; Psychology
SC Neurosciences & Neurology; Psychology
GA AP8FC
UT WOS:000342313100005
PM 25079009
ER
PT J
AU Yang, PC
Chang, CL
AF Yang, Pinchen
Chang, Chen-Lin
TI Glutamate-Mediated Signaling and Autism Spectrum Disorders: Emerging
Treatment Targets
SO CURRENT PHARMACEUTICAL DESIGN
LA English
DT Article
DE Glutamate; autism spectrum disorders; treatment
ID FRAGILE-X-SYNDROME; OBSESSIVE-COMPULSIVE DISORDER; PERVASIVE
DEVELOPMENTAL DISORDERS; N-METHYLGLYCINE SARCOSINE; PLACEBO-CONTROLLED
TRIAL; TRANSPORTER-I INHIBITOR; OPEN-LABEL TRIAL; D-CYCLOSERINE;
SYNAPTIC PLASTICITY; MOUSE MODEL
AB Autism spectrum disorders (ASD) are developmental disorders that are characterized by deficits in reciprocal social interactions and communication, as well as by the presence of impairing repetitive behaviors and restricted interests. Prior work examining human pathology, and model systems and genetic studies have all led to the current conceptualization of ASD as a disorder of synaptic formation and functioning (a "synapsopathy"). In this regard, glutamate, the major excitatory neurotransmitter in central nervous system synaptic transmission, with roles in learning, memory and synaptic plasticity, is hypothesized to play an important role in the pathophysiology of ASD. Molecules targeting glutamate signaling have been suggested to possess therapeutic potential for ASD treatment. This review focuses on the role of the structure and function of glutamate receptors, describes synaptic cell-adhesion molecule pathways related to glutamate and/or ASD, introduces a rare disease approach in the development of novel drugs for ASD treatment, and reports on glutamate-related clinical trials. We will also present promising new techniques using human-induced pluripotent stem cells, which may afford researchers the ability to study the relationships between clinical phenotypes, cellular responses and glutamate involvement in ASD.
C1 [Yang, Pinchen] Kaohsiung Med Univ, Coll Med, Dept Psychiat, Kaohsiung, Taiwan.
[Yang, Pinchen] Kaohsiung Med Univ Hosp, Kaohsiung, Taiwan.
[Chang, Chen-Lin] Kaohsiung Med Univ, Grad Inst Med, Kaohsiung, Taiwan.
[Chang, Chen-Lin] Kaohsiung Armed Forces Gen Hosp, Dept Psychiat, Kaohsiung, Taiwan.
[Chang, Chen-Lin] Meiho Univ, Coll Nursing & Hlth, Dept Nursing, Neipu Township, Taiwan.
RP Yang, PC (reprint author), 100,Shin Chuan 1st Rd, Kaohsiung 807, Taiwan.
EM pincheny@gmail.com
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NR 94
TC 2
Z9 2
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1381-6128
EI 1873-4286
J9 CURR PHARM DESIGN
JI Curr. Pharm. Design
PY 2014
VL 20
IS 32
BP 5186
EP 5193
PG 8
WC Pharmacology & Pharmacy
SC Pharmacology & Pharmacy
GA AP3UO
UT WOS:000342003600009
PM 24410563
ER
PT J
AU Lutz, CK
AF Lutz, Corrine K.
TI Stereotypic Behavior in Nonhuman Primates as a Model for the Human
Condition
SO ILAR JOURNAL
LA English
DT Article
DE autism; neurodevelopmental disorders; model; nonhuman primate;
obsessive-compulsive disorder; stereotypies
ID OBSESSIVE-COMPULSIVE DISORDER; MONKEYS MACACA-MULATTA; CHIMPANZEES
PAN-TROGLODYTES; YOUNG AUTISTIC-CHILDREN; SELF-INJURIOUS-BEHAVIOR;
PLACEBO-CONTROLLED CROSSOVER; RANDOMIZED CONTROLLED-TRIAL; EARLY
SOCIAL-ISOLATION; HOUSED RHESUS-MONKEYS; MENTAL-RETARDATION
AB Stereotypies that develop spontaneously in nonhuman primates can provide an effective model for repetitive stereotyped behavior in people with neurodevelopmental or obsessive-compulsive disorders. The behaviors are similar in form, are similarly affected by environmental conditions, and are improved with similar treatment methods such as enrichment, training, and drug therapy. However, because of a greater number of commonalities in these factors, nonhuman primates may serve as a better model for stereotyped behavior in individuals with autism or intellectual disability than for compulsions in individuals with obsessive-compulsive disorder. Because animal models may not be exact in all features of the disorder being studied, it is important to investigate the strengths and weaknesses of using a nonhuman primate model for stereotyped behavior in people with psychological disorders.
C1 Texas Biomed Res Inst, SNPRC, San Antonio, TX 78245 USA.
RP Lutz, CK (reprint author), Texas Biomed Res Inst, SNPRC, POB 760549, San Antonio, TX 78245 USA.
EM clutz@txbiomed.org
FU [R24OD01180-15]; [P51OD011133]
FX This work was supported by Grant R24OD01180-15 to Melinda Novak at
Harvard Medical School and P51OD011133 to Texas Biomedical Research
Institute (SNPRC).
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NR 176
TC 0
Z9 0
PU OXFORD UNIV PRESS
PI OXFORD
PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND
SN 1084-2020
EI 1930-6180
J9 ILAR J
JI ILAR J.
PY 2014
VL 55
IS 2
BP 284
EP 296
DI 10.1093/ilar/ilu016
PG 13
WC Veterinary Sciences
SC Veterinary Sciences
GA AP6WK
UT WOS:000342218800007
PM 25225307
ER
PT J
AU Korkiakangas, T
Rae, J
AF Korkiakangas, Terhi
Rae, John
TI The interactional use of eye-gaze in children with autism spectrum
disorders
SO INTERACTION STUDIES
LA English
DT Article
DE Autism; eye-gaze; conversation analysis; social interaction;
interactional competence
ID ASPERGER-SYNDROME; CONVERSATION ANALYSIS; MIND; ATTENTION; ADULTS;
ORGANIZATION; DISABILITY; ABSENCE
AB The well-known impairments in the social use of eye-gaze by children with autism have been chiefly explored through experimental methods. The present study aims to contribute to the naturalistic analysis of social eye-gaze by applying Conversation Analysis to video recordings of three Finnish children with a diagnosis of autism, each interacting with familiar others in ordinary settings (total 6 hours). The analysis identifies two interactional environments where some children with autism show eye-gaze related competence with respect to gazing at their co-participants: these are when the child carries out an initiating action or a responsive action. We discuss how this qualitative analysis of interactional structure could be extended using quantitative methods and eye-tracking technology in order to develop a better understanding of the disorder.
C1 [Korkiakangas, Terhi] Univ Roehampton, Dept Psychol, London SW15 4JD, England.
[Rae, John] Univ Roehampton, Dept Psychol, Whitelands Coll, London SW15 4JD, England.
RP Korkiakangas, T (reprint author), Univ London, Inst Educ, Dept Culture Commun & Media, London Knowledge Lab, 23-29 Emerald St, London WC1N 3QS, England.
EM t.korkiakangas@ioe.ac.uk; j.rae@roehampton.ac.uk
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NR 46
TC 0
Z9 0
PU JOHN BENJAMINS PUBLISHING COMPANY
PI AMSTERDAM
PA PO BOX 36224, 1020 ME AMSTERDAM, NETHERLANDS
SN 1572-0373
EI 1572-0381
J9 INTERACT STUD
JI Interact. Stud.
PY 2014
VL 15
IS 2
BP 233
EP 259
DI 10.1075/is.15.2.12kor
PG 27
WC Communication; Linguistics
SC Communication; Linguistics
GA AP1GE
UT WOS:000341815000012
ER
PT J
AU Ma, MY
Lee, YH
AF Ma, Min-Yuan
Lee, Ya-Hsueh
TI Children with autism and composite tactile-visual toys during
parent-child interaction
SO INTERACTION STUDIES
LA English
DT Article
DE autism; sensory integration theory; parent-child interaction; toys
AB Based on sensory integration theory, six fabric samples containing tactile and visual stimuli were selected using the sensory perceptions of designers and combined with balls. Experiments involving these toys were implemented with 15 families with preschool-aged high-functioning autistic children. The results showed that (a) loose sequin (No. 15), which possessed equal tactile and visual intensities, was strongly correlated with frequent smiling/laughing and high enjoyment levels. The fabric provided a loose tactile sensation regarding surface interweave uniformity and a bright visual sensation regarding visually perceived luster; (b) suede (No. 5) exhibited a greater tactile intensity than visual intensity and was correlated with eye contact and activity response. This fabric possessed a smooth visual sensation regarding visually perceived smoothness; and (c) loose sequin (No. 15), which possessed equal tactile and visual intensities, was highly correlated with finger pointing and initiation. This fabric offered a thin tactile sensation regarding surface interweave thickness and a bright visual sensation regarding visually perceived luster. We suggest applying fabrics to composite toys. Specifically, loose sequin can be used initially to encourage autistic children to interact; subsequently, suede can enable sustained parent-child interaction. The experimental results provide a reference for establishing an innovative toy-design method for autistic children.
C1 [Ma, Min-Yuan; Lee, Ya-Hsueh] Natl Cheng Kung Univ, Dept Ind Design, Tainan 70101, Taiwan.
[Lee, Ya-Hsueh] Tatung Inst Technol, Dept Visual Commun Design, Tainan 701, Taiwan.
RP Lee, YH (reprint author), Natl Cheng Kung Univ, Dept Ind Design, Tainan 70101, Taiwan.
EM snow8392@hotmail.com
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NR 16
TC 0
Z9 0
PU JOHN BENJAMINS PUBLISHING COMPANY
PI AMSTERDAM
PA PO BOX 36224, 1020 ME AMSTERDAM, NETHERLANDS
SN 1572-0373
EI 1572-0381
J9 INTERACT STUD
JI Interact. Stud.
PY 2014
VL 15
IS 2
BP 260
EP 291
DI 10.1075/is.15.2.13ma
PG 32
WC Communication; Linguistics
SC Communication; Linguistics
GA AP1GE
UT WOS:000341815000013
ER
PT J
AU Pop, CA
Pintea, S
Vanderborght, B
David, DO
AF Pop, Cristina A.
Pintea, Sebastian
Vanderborght, Bram
David, Daniel O.
TI Enhancing play skills, engagement and social skills in a play task in
ASD children by using robot-based interventions. A pilot study
SO INTERACTION STUDIES
LA English
DT Article
ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; VIRTUAL-REALITY;
SYMBOLIC PLAY; PRETEND PLAY; LONG-TERM; PEOPLE; LANGUAGE; BEHAVIOR;
DEFICITS
C1 [Pop, Cristina A.; Pintea, Sebastian; David, Daniel O.] Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, Cluj Napoca 400015, Romania.
[Vanderborght, Bram] Vrije Univ Brussel, Robot & Multibody Mech Res Grp, B-1050 Brussels, Belgium.
[David, Daniel O.] Mt Sinai Sch Med, Dept Oncol Sci, New York, NY USA.
RP Pop, CA (reprint author), Univ Babes Bolyai, Dept Clin Psychol & Psychotherapy, Republicii 37 St, Cluj Napoca 400015, Romania.
EM popcristina.anamaria@yahoo.com; sebastianpintea@psychology.ro;
bram.vanderborght@vub.ac.be; daniel.david@ubbcluj.ro
RI David, Daniel/N-1285-2014
FU CNCSIS-Bucharest, Romania [PN-IIIDPCE- 2011-3-0484]
FX The authors wish to thank for the financial support provided form
programs financed by CNCSIS-Bucharest, Romania project PN-IIIDPCE-
2011-3-0484 Exploring Robot-assisted therapy for children with ASD (Bram
Vanderborght's contribution).
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NR 73
TC 2
Z9 2
PU JOHN BENJAMINS PUBLISHING COMPANY
PI AMSTERDAM
PA PO BOX 36224, 1020 ME AMSTERDAM, NETHERLANDS
SN 1572-0373
EI 1572-0381
J9 INTERACT STUD
JI Interact. Stud.
PY 2014
VL 15
IS 2
BP 292
EP 320
DI 10.1075/is.15.2.14pop
PG 29
WC Communication; Linguistics
SC Communication; Linguistics
GA AP1GE
UT WOS:000341815000014
ER
PT J
AU Demoz, Z
Legesse, B
Teklay, G
Demeke, B
Eyob, T
Shewamene, Z
Abera, M
AF Demoz, Zaid
Legesse, Befikadu
Teklay, Gebrehiwot
Demeke, Birhanu
Eyob, Tewodros
Shewamene, Zewdneh
Abera, Mubarek
TI Medication adherence and its determinants among psychiatric patients in
an Ethiopian referral hospital
SO PATIENT PREFERENCE AND ADHERENCE
LA English
DT Article
DE medication adherence; psychiatric patients; Ethiopia
ID SCHIZOPHRENIA; NONADHERENCE; INTERVENTIONS; OUTPATIENTS
AB Background: The degree to which an individual follows medical advice is a major concern in every medical specialty. Non-adherence to psychiatric treatment regimens has a pro-found impact on the disease course, relapse, future recovery, cost of health care, and the outcome for the patient. The aim of this study was to assess medication adherence and its correlates among psychiatric patients at Ayder Referral Hospital, Northern Ethiopia.
Methods: A cross-sectional study was conducted from June to September 2013 at Ayder Referral Hospital, where 423 patients were selected by a systematic random sampling technique from all patients attending the psychiatric clinic at the hospital. Data were collected by trained data collectors through interview of the patients using a structured questionnaire. The collected data were entered into Epi Info version 7 and analyzed by Statistical Package for the Social Sciences version 16 software. Logistic regression was used to assess independent predictors of adherence.
Results: A total of 387 patients completed the interview. Two hundred and sixteen (55.8%) and 113 (29.2%) were patients with a diagnosis of schizophrenia and mood disorder, respectively, while 35 (9%) and 23 (5.9%) had a diagnosis of drug addiction and autistic disorder. Two hundred and seven (71.6%) patients were found to be adherent to their medication. When adherence rates were observed according to type of disorder, 60 (53.1%), 24 (68.6%), 149 (69%), and 18 (78.3%) of patients with mood disorder, drug addiction, schizophrenia, and autism, respectively, were adherent to their medications. Female gender (adjusted odds ratio [AOR] 2.34; 95% confidence interval [CI] 1.45-3.74), tertiary education (AOR 2.69; 95% CI 1.46-4.85), living with family (AOR 2.57; 95% CI 1.66-4.58), and shorter treatment duration (AOR 1.82; 95% CI 1.21-2.84) were among the variables associated with better adherence.
Conclusion: Suboptimal adherence was observed among psychiatric patients in this study. Health professionals in the psychiatric clinic and pharmacists need to focus on and counsel patients about adherence and its implications for their clinical outcome.
C1 [Demoz, Zaid; Legesse, Befikadu; Teklay, Gebrehiwot; Demeke, Birhanu] Mekelle Univ, Coll Hlth Sci, Dept Pharm, Mekelle, Ethiopia.
[Eyob, Tewodros] Jimma Univ, Coll Publ Hlth & Med Sci, Dept Pharm, Jimma, Ethiopia.
[Shewamene, Zewdneh] Univ Gondar, Sch Pharm, Dept Pharmacol, Gondar, Ethiopia.
[Abera, Mubarek] Jimma Univ, Coll Publ Hlth & Med Sci, Dept Psychiat, Jimma, Ethiopia.
RP Eyob, T (reprint author), Jimma Univ, Coll Publ Hlth & Med Sci, Dept Pharm, POB 378, Jimma, Ethiopia.
EM teda.eyob@gmail.com
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Sun SX, 2007, CURR MED RES OPIN, V23, P2305, DOI 10.1185/030079907X226050
Taj Fawad, 2008, J Pak Med Assoc, V58, P432
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Valenstein M, 2004, SCHIZOPHRENIA BULL, V30, P255
NR 19
TC 0
Z9 0
PU DOVE MEDICAL PRESS LTD
PI ALBANY
PA PO BOX 300-008, ALBANY, AUCKLAND 0752, NEW ZEALAND
SN 1177-889X
J9 PATIENT PREFER ADHER
JI Patient Prefer. Adherence
PY 2014
VL 8
BP 1329
EP 1335
DI 10.2147/PPA.S69702
PG 7
WC Medicine, General & Internal
SC General & Internal Medicine
GA AP5PG
UT WOS:000342130500001
PM 25284991
ER
PT J
AU Zhang, YH
Yuan, XS
Wang, ZP
Li, RX
AF Zhang, Yinghua
Yuan, Xiangshan
Wang, Zhongping
Li, Ruixi
TI The Canonical Wnt Signaling Pathway in Autism
SO CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
LA English
DT Article
DE Autism; beta-catenin; notch; signaling crosstalk; Wnt
ID HOMEOBOX-TRANSCRIPTION-FACTOR; SPECTRUM-DISORDER; SUSCEPTIBILITY GENE;
SOCIAL-INTERACTION; GENOMEWIDE SCREEN; SYNAPTIC FUNCTION; ANIMAL-MODEL;
STEM-CELLS; NOTCH; ASSOCIATION
AB Mounting attention is being focused on the canonical Wnt signaling pathway which has been implicated in the pathogenesis of autism in some our and other recent studies. The canonical Wnt pathway is involved in cell proliferation, differentiation and migration, especially during nervous system development. Given its various functions, dysfunction of the canonical Wnt pathway may exert adverse effects on neurodevelopment and therefore leads to the pathogenesis of autism. Here, we review human and animal studies that implicate the canonical Wnt signal transduction pathway in the pathogenesis of autism. We also describe the crosstalk between the canonical Wnt pathway and the Notch signaling pathway in several types of autism spectrum disorders, including Asperger syndrome and Fragile X. Further research on the crosstalk between the canonical Wnt signaling pathway and other signaling cascades in autism may be an efficient avenue to understand the etiology of autism and ultimately lead to alternative medications for autism-like phenotypes.
C1 [Zhang, Yinghua] Xinxiang Med Univ, Dept Human Anat, Xinxiang 453003, Peoples R China.
[Zhang, Yinghua; Yuan, Xiangshan; Wang, Zhongping; Li, Ruixi] Fudan Univ, Shanghai Med Coll, Dept Anat Histol & Embryol, Shanghai 200032, Peoples R China.
[Wang, Zhongping] Jiujiang Univ, Sch Basic Med Sci, Dept Physiol, Jiujiang 332000, Peoples R China.
RP Li, RX (reprint author), Fudan Univ, Shanghai Med Coll, Dept Anat Histol & Embryol, Yixueyuan Rd 138, Shanghai 200032, Peoples R China.
EM ruixilee@shmu.edu.cn
FU National Natural Science Foundation of China [81171299, 81260211,
81271466, 81301174]; State Key Laboratory of Medical Neurobiology,
Shanghai Medical College of Fudan University
FX This work was funded in part by the National Natural Science Foundation
of China (No. 81171299, 81260211, 81271466 and 81301174) and the State
Key Laboratory of Medical Neurobiology, Shanghai Medical College of
Fudan University.
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NR 82
TC 0
Z9 1
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1871-5273
EI 1996-3181
J9 CNS NEUROL DISORD-DR
JI CNS Neurol. Disord.-Drug Targets
PY 2014
VL 13
IS 5
BP 765
EP 770
PG 6
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AP1YJ
UT WOS:000341868000006
PM 24365182
ER
PT J
AU Lindblom, A
AF Lindblom, Anne
TI Under-detection of autism among First Nations children in British
Columbia, Canada
SO DISABILITY & SOCIETY
LA English
DT Article
DE autism; First Nations; aboriginal; prevalence; under-detection; British
Columbia; Canada
ID SPECTRUM DISORDERS; CULTURE; FAMILIES
AB This article shows that First Nations children diagnosed with autism in British Columbia, Canada are under-represented in publications regarding autism and the prevalence thereof, and that this group appears to be under-detected. The aim of this review of publications regarding autism and aboriginal populations in Canada and other countries is to examine possible explanations. The research review results suggest that possible reasons for under-detection of autism among aboriginal populations, and consequently First Nations peoples, can be diagnostic substitution and symptom presentation, ethnic or cultural, area of residence or the impact of historical oppression and discrimination.
C1 [Lindblom, Anne] Karlstad Univ, Dept Educ Studies, Karlstad, Sweden.
[Lindblom, Anne] Univ Eastern Finland, Sch Educ Sci & Psychol, Joensuu, Finland.
RP Lindblom, A (reprint author), Karlstad Univ, Dept Educ Studies, Karlstad, Sweden.
EM annelind@kau.se
CR AANDC (Aboriginal Affairs and Northern Development Canada), 2013, 1 NAT
AANDC (Aboriginal Affairs and Northern Development Canada), 2012, AB PEOPL COMM
AANDC (Aboriginal Affairs and Northern Development Canada), 2013, 1 NAT IMPL PLAN
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AANDC (Aboriginal Affairs and Northern Development Canada), 2012, TERMINOLOGY
AANDC (Aboriginal Affairs and Northern Development Canada), 2012, IND STAT
American Psychiatric Association, 2013, DIAGN STAT MAN MENT
Anthony J. H., 2009, THESIS U SUSSEX
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NR 32
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0968-7599
EI 1360-0508
J9 DISABIL SOC
JI Disabil. Soc.
PY 2014
VL 29
IS 8
BP 1248
EP 1259
DI 10.1080/09687599.2014.923750
PG 12
WC Rehabilitation; Social Sciences, Interdisciplinary
SC Rehabilitation; Social Sciences - Other Topics
GA AO5UK
UT WOS:000341410600006
ER
PT J
AU Paquette-Smith, M
Weiss, J
Lunsky, Y
AF Paquette-Smith, Melissa
Weiss, Jonathan
Lunsky, Yona
TI History of Suicide Attempts in Adults With Asperger Syndrome
SO CRISIS-THE JOURNAL OF CRISIS INTERVENTION AND SUICIDE PREVENTION
LA English
DT Article
DE suicidality; depression; Asperger syndrome; autism
ID AUTISM; CHILDREN; DISORDER; AQ
AB Background: Individuals with Asperger syndrome (AS) may be at higher risk for attempting suicide compared to the general population. Aims: This study examines the issue of suicidality in adults with AS. Method: An online survey was completed by 50 adults from across Ontario. The sample was dichotomized into individuals who had attempted suicide (n = 18) and those who had not (n = 32). We examined the relationship between predictor variables and previous attempts, and compared the services that both groups are currently receiving. Results: Over 35% of individuals with AS reported that they had attempted suicide in the past. Individuals who attempted suicide were more likely to have a history of depression and self-reported more severe autism symptomatology. Those with and without a suicidal history did not differ in terms of the services they were currently receiving. This study looks at predictors retrospectively and cannot ascertain how long ago the attempt was made. Although efforts were made to obtain a representative sample, there is the possibility that the individuals surveyed may be more or less distressed than the general population with AS. Conclusion: The suicide attempt rate in our sample is much higher than the 4.6% lifetime prevalence seen in the general population. These findings highlight a need for more specialized services to help prevent future attempts and to support this vulnerable group.
C1 [Paquette-Smith, Melissa; Lunsky, Yona] Ctr Addict & Mental Hlth, Toronto, ON M5V 2B4, Canada.
[Weiss, Jonathan] York Univ, Dept Psychol, Toronto, ON M3J 2R7, Canada.
RP Lunsky, Y (reprint author), Ctr Addict & Mental Hlth, Dual Diag Serv, 501 Queen St W, Toronto, ON M5V 2B4, Canada.
EM yona.lunsky@camh.ca
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NR 21
TC 0
Z9 0
PU HOGREFE & HUBER PUBLISHERS
PI GOTTINGEN
PA ROHNSWEG 25, D-37085 GOTTINGEN, GERMANY
SN 0227-5910
EI 2151-2396
J9 CRISIS
JI Crisis
PY 2014
VL 35
IS 4
BP 273
EP 277
DI 10.1027/0227-5910/a000263
PG 5
WC Psychiatry; Psychology, Multidisciplinary
SC Psychiatry; Psychology
GA AN8BW
UT WOS:000340827500008
PM 25113892
ER
PT J
AU Gilman, C
McSweeney, C
Mao, Y
AF Gilman, C.
McSweeney, C.
Mao, Y.
TI The Applications of Pharmacogenomics to Neurological Disorders
SO CURRENT MOLECULAR MEDICINE
LA English
DT Article
DE Genome wide association study (GWAS); neurodegenerative diseases;
pharmacogenomics; psychiatric disorders
ID APOLIPOPROTEIN-E EPSILON-4; AUTISM SPECTRUM DISORDERS; GENOME-WIDE
ASSOCIATION; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER;
DENSITY-LIPOPROTEIN-CHOLESTEROL; DEFICIT HYPERACTIVITY DISORDER;
ANGIOTENSIN-CONVERTING ENZYME; METHYLPHENIDATE DOSE-RESPONSE;
OBSESSIVE-COMPULSIVE DISORDER; LEVODOPA-INDUCED DYSKINESIAS
AB The most common neurological disorders, including neurodegenerative diseases and psychiatric disorders, have received recent attention with regards to pharmacogenomics and personalized medicine. Here, we will focus on a neglected neurodegenerative disorder, cerebral ischemic stroke (CIS), and highlight recent advances in two disorders, Parkinson's disease (PD) and Alzheimer's diseases (AD), that possess both similar and distinct mechanisms in regards to potential therapeutic targets.
In the first part of this review, we will focus primarily on mechanisms that are somewhat specific to each disorder which are involved in neurodegeneration (i.e., protease pathways, calcium homeostasis, reactive oxygen species regulation, DNA repair mechanisms, neurogenesis regulation, mitochondrial function, etc.). In the second part of this review, we will discuss the applications of the genome-wide technology on pharmacogenomics of mental illnesses including schizophrenia (SCZ), autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD).
C1 [Gilman, C.; McSweeney, C.; Mao, Y.] Penn State Univ, Dept Biol, University Pk, PA 16802 USA.
RP Mao, Y (reprint author), Penn State Univ, Dept Biol, 214 Life Sci Bldg, University Pk, PA 16802 USA.
EM yzm1@psu.edu
FU American Heart Association Scientist Development Grant; NARSAD Young
Investigator Award
FX This work is supported in part by American Heart Association Scientist
Development Grant and NARSAD Young Investigator Award to Y. Mao.
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NR 160
TC 0
Z9 0
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1566-5240
EI 1875-5666
J9 CURR MOL MED
JI Curr. Mol. Med.
PY 2014
VL 14
IS 7
BP 880
EP 890
PG 11
WC Medicine, Research & Experimental
SC Research & Experimental Medicine
GA AO0QN
UT WOS:000341016100007
PM 25109797
ER
PT J
AU Anderson, G
Maes, M
AF Anderson, George
Maes, Michael
TI Redox Regulation and the Autistic Spectrum: Role of Tryptophan
Catabolites, Immuno-inflammation, Autoimmunity and the Amygdala
SO CURRENT NEUROPHARMACOLOGY
LA English
DT Article
DE Autism; Oxidative stress; Nitrosative stress; glia; Immuno-inflammation;
tryptophan; melatonin
ID DELTA-T-CELLS; CORTICOTROPIN-RELEASING HORMONE; INCREASED
LIPID-PEROXIDATION; VENTRAL TEGMENTAL AREA; ELEVATED SERUM-LEVELS;
NEONATAL RISK-FACTORS; DE-NOVO MUTATIONS; OXIDATIVE STRESS; VITAMIN-D;
CYTOKINE PRODUCTION
AB The autistic spectrum disorders (ASD) form a set of multi-faceted disorders with significant genetic, epigenetic and environmental determinants. Oxidative and nitrosative stress (O&NS), immuno-inflammatory pathways, mitochondrial dysfunction and dysregulation of the tryptophan catabolite (TRYCATs) pathway play significant interactive roles in driving the early developmental etiology and course of ASD. O&NS interactions with immuno-inflammatory pathways mediate their effects centrally via the regulation of astrocyte and microglia responses, including regional variations in TRYCATs produced. Here we review the nature of these interactions and propose an early developmental model whereby different ASD genetic susceptibilities interact with environmental and epigenetic processes, resulting in glia biasing the patterning of central interarea interactions. A role for decreased local melatonin and N-acetylserotonin production by immune and glia cells may be a significant treatment target.
C1 [Anderson, George] CRC, Glasgow G11 7QT, Lanark, Scotland.
[Maes, Michael] Chulalongkorn Univ, Dept Psychiat, Bangkok, Thailand.
[Maes, Michael] Deakin Univ, Dept Psychiat, Geelong, Vic 3217, Australia.
RP Anderson, G (reprint author), CRC, Rm 30,57 Laurel St, Glasgow G11 7QT, Lanark, Scotland.
EM anderson.george@rocketmail.com
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NR 289
TC 3
Z9 4
PU BENTHAM SCIENCE PUBL LTD
PI SHARJAH
PA EXECUTIVE STE Y-2, PO BOX 7917, SAIF ZONE, 1200 BR SHARJAH, U ARAB
EMIRATES
SN 1570-159X
EI 1875-6190
J9 CURR NEUROPHARMACOL
JI Curr. Neuropharmacol.
PY 2014
VL 12
IS 2
BP 148
EP 167
DI 10.2174/1570159X11666131120223757
PG 20
WC Neurosciences; Pharmacology & Pharmacy
SC Neurosciences & Neurology; Pharmacology & Pharmacy
GA AN8GN
UT WOS:000340842100006
PM 24669209
ER
PT J
AU Key, AP
Corbett, BA
AF Key, Alexandra P.
Corbett, Blythe A.
TI ERP Responses to Face Repetition During Passive Viewing: A Nonverbal
Measure of Social Motivation in Children With Autism and Typical
Development
SO DEVELOPMENTAL NEUROPSYCHOLOGY
LA English
DT Article
ID EVENT-RELATED POTENTIALS; SPECTRUM DISORDERS; 9-MONTH-OLD INFANTS;
OBJECT RECOGNITION; YOUNG-CHILDREN; MEMORY; RECOLLECTION; FAMILIARITY;
ADULTS; PERCEPTION
AB This study examined whether individual differences in social motivation affect the extent of processing of social versus nonsocial information. Event-related potentials were recorded in 13 children with autism spectrum disorder and 11 typically developing children during passive viewing of unfamiliar faces and houses. One image in each category was presented repeatedly, the rest were shown once. Analyses indicated no group differences in the early perceptual responses. Only typical children evidenced larger P600 for the repeated faces. These results were replicated during a retest session. Individual differences in memory for the repeated faces correlated with standardized behavioral assessments of social skills.
C1 [Key, Alexandra P.; Corbett, Blythe A.] Vanderbilt Univ, Vanderbilt Kennedy Ctr Res Human Dev, Nashville, TN 37203 USA.
[Key, Alexandra P.] Vanderbilt Univ, Dept Hearing & Speech Sci, Nashville, TN 37203 USA.
[Corbett, Blythe A.] Vanderbilt Univ, Dept Psychiat, Nashville, TN 37203 USA.
RP Key, AP (reprint author), Vanderbilt Univ, Vanderbilt Kennedy Ctr, 230 Appleton Pl,Peabody Box 74, Nashville, TN 37203 USA.
EM sasha.key@vanderbilt.edu
FU NICHD [P30 HD15052]; NIMH [R01 MH085717]; VKC Hobbs Discovery Award
FX This work was supported in part by NICHD Grant P30 HD15052 to Vanderbilt
Kennedy Center (VKC), NIMH R01 MH085717 to Dr. Corbett, and by a VKC
Hobbs Discovery Award to Drs. Corbett and Key.
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NR 59
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 8756-5641
EI 1532-6942
J9 DEV NEUROPSYCHOL
JI Dev. Neuropsychol.
PY 2014
VL 39
IS 6
BP 474
EP 495
DI 10.1080/87565641.2014.940620
PG 22
WC Psychology, Developmental; Psychology; Psychology, Experimental
SC Psychology
GA AO0PL
UT WOS:000341012400004
PM 25144259
ER
PT J
AU McEwen, R
AF McEwen, Rhonda
TI Mediating sociality: the use of iPod Touch (TM) devices in the
classrooms of students with autism in Canada
SO INFORMATION COMMUNICATION & SOCIETY
LA English
DT Article
DE young people; communication studies; computer-mediated communication;
e-learning; interactivity; mobile technology
ID COMMUNICATION
AB This study explores the roles that lower-cost, handheld touch technologies might play in the communication functions of children diagnosed on the autism spectrum. It reports on a case study of the use of Apple iPod Touch mobile digital devices in a public elementary school in downtown Toronto, Canada. Drawing from Vygotskian sociocultural theory researchers examined the consequences of handheld touch technologies on the communication and sociality of children with communicative disorders, with a primary emphasis on nonverbal autistic children. In the period between January 2010 and June 2010, iPod Touch devices were introduced into six elementary classrooms. While there were gains in communication for all participants, ranging from mild to significant, nine of the 12 students for whom we collected detailed data demonstrated statistically significant improvement in communication skills. Observations are made about the heightened levels of motivation, increased attention spans, and increased social interaction that students with autism spectrum disorder (ASD) exhibited when using these devices. Future research should explore the connection of touch-sensory inputs on the communication development of children with ASDs.
C1 Univ Toronto, Inst Commun Culture Informat & Technol, Mississauga, ON L5L 1C6, Canada.
RP McEwen, R (reprint author), Univ Toronto, Inst Commun Culture Informat & Technol, CCT Bldg,3359 Mississauga Rd North, Mississauga, ON L5L 1C6, Canada.
EM rhonda.mcewen@utoronto.ca
CR Autism Society of Canada, 2014, ASD RES PREV
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NR 18
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1369-118X
EI 1468-4462
J9 INFORM COMMUN SOC
JI Info. Commun. Soc.
PY 2014
VL 17
IS 10
BP 1264
EP 1279
DI 10.1080/1369118X.2014.920041
PG 16
WC Communication; Sociology
SC Communication; Sociology
GA AO3YG
UT WOS:000341272700006
ER
PT J
AU Poon, KK
Soon, S
Wong, ME
Kaur, S
Khaw, J
Ng, Z
Tan, CS
AF Poon, Kenneth K.
Soon, Sijie
Wong, Meng-Ee
Kaur, Sarinajit
Khaw, Joanne
Ng, Zijia
Tan, Chee Soon
TI What is school like? Perspectives of Singaporean youth with
high-functioning autism spectrum disorders
SO INTERNATIONAL JOURNAL OF INCLUSIVE EDUCATION
LA English
DT Article
DE youth; high-functioning autism; Asperger syndrome; perspectives;
phenomenology; Singapore
ID ASPERGER-SYNDROME; CHILDREN; ADOLESCENTS
AB This study sought to understand the perspectives of four youth with high-functioning autism spectrum disorders (HFA) regarding their experiences in Singapore secondary schools. Qualitative analyses of in-depth interviews revealed that youth with HFA actively construct their experience of being a person with HFA. The extent to which the youth were engaged or disengaged in school appears to be related to the support provided by the environment. Implications of the findings for practice are discussed. The role of the phenomenological approach to providing insights into the lives of persons with HFA is also discussed.
C1 [Poon, Kenneth K.; Soon, Sijie; Wong, Meng-Ee; Kaur, Sarinajit; Khaw, Joanne; Ng, Zijia] Nanyang Technol Univ, Natl Inst Educ, Singapore 639798, Singapore.
[Tan, Chee Soon] Minist Educ, Psychol Serv Branch, Singapore, Singapore.
RP Poon, KK (reprint author), Nanyang Technol Univ, Natl Inst Educ, Singapore 639798, Singapore.
EM kenneth.poon@nie.edu.sg
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NR 25
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1360-3116
EI 1464-5173
J9 INT J INCLUSIVE EDUC
JI Int. J. Incl. Educ.
PY 2014
VL 18
IS 10
SI SI
BP 1069
EP 1081
DI 10.1080/13603116.2012.693401
PG 13
WC Education & Educational Research
SC Education & Educational Research
GA AO4AD
UT WOS:000341277700010
ER
PT J
AU Hoffmire, CA
Magyar, CI
Connolly, HV
Fernandez, ID
van Wijngaarden, E
AF Hoffmire, Claire A.
Magyar, Caroline I.
Connolly, Heidi V.
Fernandez, I. Diana
van Wijngaarden, Edwin
TI High Prevalence of Sleep Disorders and Associated Comorbidities in a
Community Sample of Children with Down Syndrome
SO JOURNAL OF CLINICAL SLEEP MEDICINE
LA English
DT Article
DE Down syndrome; sleep disorders; sleep apnea syndromes; pediatrics
ID SCHOOL-AGED CHILDREN; PEDIATRIC SLEEP; HABITS QUESTIONNAIRE;
BEHAVIORAL-PROBLEMS; MENTAL-RETARDATION; APNEA; CHILDHOOD; PATTERNS;
AUTISM; TONSILLECTOMY
AB Study Objectives: Down syndrome (DS) is a neurodevelopmental disorder characterized by multiple comorbidities. Sleep disorders are common among children with DS and can cause significant distress for families. However, research is limited describing sleep problems and correlates in large population-based samples. Accordingly, we aimed to describe sleep behavior among children with DS and its relationship with medical conditions in this population.
Methods: We conducted a population-based, cross-sectional study (2009-2011) of sleep disturbances in children and adolescents with DS 7 to 17 years of age (N = 107). We assessed sleep problems using caregiver report on two validated screening tools: the Childhood Sleep Habits Questionnaire (CSHQ) and the Pediatric Sleep Questionnaire (PSQ). The prevalence of sleep problems was compared in children with and without important comorbidities using modified Poisson regression with robust standard errors.
Results: 65% of children screened positive on the CSHQ for significant sleep problems in the past month, but their parents often did not report sleeping difficulties in their children. On the PSQ, 46% screened positive for sleep related breathing problems and 21% screened positive for sleep related movement disorders. Children with asthma, autism, and a history of enlarged adenoids and tonsils had more current sleep problems than children without these comorbidities.
Conclusions: Our findings suggest that sleep problems may be an important but under-recognized problem in children with DS. Sleep problems appear to be correlated with prevalent comorbidities, which may provide guidance to augment current practice guidelines to evaluate sleep problems in this population.
C1 [Hoffmire, Claire A.] Dept Vet Affairs, Canandaigua, NY USA.
[Magyar, Caroline I.; Connolly, Heidi V.] Univ Rochester, Sch Med & Dent, Dept Pediat, Rochester, NY 14642 USA.
[Fernandez, I. Diana; van Wijngaarden, Edwin] Univ Rochester, Sch Med & Dent, Dept Publ Hlth Sci, Rochester, NY USA.
RP Hoffmire, CA (reprint author), Canandaigua VA Med Ctr, Dept Vet Affairs, VISN Ctr Excellence Suicide Prevent 2, 400 Ft Hill Ave, Canandaigua, NY 14424 USA.
EM Claire.Hoffmire@va.gov
FU National Heart, Lung and Blood Institute Research Training Fellowship in
Preventive Cardiology [5 T32 HL07937 - 9]
FX This was not an industry supported study. Financial Support was from the
National Heart, Lung and Blood Institute Research Training Fellowship in
Preventive Cardiology (grant # 5 T32 HL07937 - 9). The authors have
indicated no financial conflicts of interest. All work for this study
was conducted at the University of Rochester School of Medicine and
Dentistry, Department of Public Health Sciences, Rochester, NY.
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NR 61
TC 2
Z9 2
PU AMER ACAD SLEEP MEDICINE
PI WESTCHESTER
PA ONE WESTBROOK CORPORATE CTR, STE 920, WESTCHESTER, IL 60154 USA
SN 1550-9389
EI 1550-9397
J9 J CLIN SLEEP MED
JI J. Clin. Sleep Med.
PY 2014
VL 10
IS 4
BP 411
EP 419
DI 10.5664/jcsm.3618
PG 9
WC Clinical Neurology
SC Neurosciences & Neurology
GA AO2GC
UT WOS:000341134500010
PM 24733987
ER
PT J
AU Wei, LN
Sweeney, AJ
Sheng, LY
Fang, Y
Kindy, MS
Xi, TF
Gao, BZ
AF Wei, Lina
Sweeney, Andrew J.
Sheng, Liyuan
Fang, Yu
Kindy, Mark S.
Xi, Tingfei
Gao, Bruce Z.
TI Single-neuron axonal pathfinding under geometric guidance:
low-dose-methylmercury developmental neurotoxicity test
SO LAB ON A CHIP
LA English
DT Article
ID WHITE-MATTER; IN-VITRO; GROWTH; EXPOSURE; MECHANISMS; OUTGROWTH;
CULTURE; BINDING; PIONEER; AUTISM
AB Because the nervous system is most vulnerable to toxicants during development, there is a crucial need for a highly sensitive developmental-neurotoxicity-test model to detect potential toxicants at low doses. We developed a lab-on-chip wherein single-neuron axonal pathfinding under geometric guidance was created using soft lithography and laser cell-micropatterning techniques. After coating the surface with L1, an axon-specific member of the Ig family of cell adhesion molecules (CAMs), and optimizing microunit geometric parameters, we introduced low-dose methylmercury, a well-known, environmentally significant neurotoxicant, in the shared medium. Its developmental neurotoxicity was evaluated using a novel axonal pathfinding assay including axonal turning and branching rates at turning points in this model. Compared to the conventional neurite-outgrowth assay, this model's detection threshold for low-dose methylmercury was 10-fold more sensitive at comparable exposure durations. These preliminary results support study of developmental effects of known and potential neurotoxicants on axon pathfinding. This novel assay model would be useful to study neuronal disease mechanisms at the single-cell level. To our knowledge, the potential of methylmercury chloride to cause acute in vitro developmental neurotoxicity (DNT) at such a low dosage has not been reported. This is the first DNT test model with high reproducibility to use single-neuron axonal pathfinding under precise geometric guidance.
C1 [Wei, Lina; Xi, Tingfei] Peking Univ, Acad Adv Interdisciplinary Studies, Ctr Biomed Mat & Tissue Engn, Beijing 100871, Peoples R China.
[Sweeney, Andrew J.; Kindy, Mark S.; Gao, Bruce Z.] Clemson Univ, Dept Bioengn, Biophoton Lab, Clemson, SC 29634 USA.
[Sheng, Liyuan; Xi, Tingfei] Peking Univ, Shenzhen Inst, Key Lab Human Tissue Regenerat & Repair, Shenzhen 518057, Peoples R China.
[Fang, Yu] Natl Inst Food & Drug Control, Inst Med Devices Control, Div Standardizat & Sci Res, Beijing 100050, Peoples R China.
[Kindy, Mark S.] Med Univ S Carolina, Dept Neurosci, Charleston, SC 29466 USA.
[Kindy, Mark S.] Med Univ S Carolina, Dept Regenerat Med & Cell Biol, Charleston, SC 29466 USA.
[Kindy, Mark S.] Ralph H Johnson VA Med Ctr, Charleston, SC 29403 USA.
RP Xi, TF (reprint author), Peking Univ, Acad Adv Interdisciplinary Studies, Ctr Biomed Mat & Tissue Engn, Beijing 100871, Peoples R China.
EM xitingfei@pku.edu.cn; zgao@clemson.edu
RI Sheng, Liyuan/E-2741-2012
FU National Natural Science Foundation of China [31070847, 31370956];
Strategic New Industry Development Special Foundation of Shenzhen
[JCYJ20130402172114948]; Guangdong Provincial Department of Science and
Technology, China [2011B050400011]; NIH COBRE grant from NIGMS [NIH
P20GM103444]
FX The authors would like to thank Dr. Ken Webb for insightful discussion
of application of L1. This work was supported by the National Natural
Science Foundation of China (no. 31070847, 31370956), Strategic New
Industry Development Special Foundation of Shenzhen (no.
JCYJ20130402172114948), Guangdong Provincial Department of Science and
Technology, China (2011B050400011), and NIH COBRE grant from NIGMS (NIH
P20GM103444).
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NR 33
TC 0
Z9 0
PU ROYAL SOC CHEMISTRY
PI CAMBRIDGE
PA THOMAS GRAHAM HOUSE, SCIENCE PARK, MILTON RD, CAMBRIDGE CB4 0WF, CAMBS,
ENGLAND
SN 1473-0197
EI 1473-0189
J9 LAB CHIP
JI Lab Chip
PY 2014
VL 14
IS 18
BP 3564
EP 3571
DI 10.1039/c4lc00723a
PG 8
WC Biochemical Research Methods; Chemistry, Multidisciplinary; Nanoscience
& Nanotechnology
SC Biochemistry & Molecular Biology; Chemistry; Science & Technology -
Other Topics
GA AN3GQ
UT WOS:000340474300017
PM 25041816
ER
PT J
AU Bandino, ML
Garfinkle, RA
Zickefoose, BA
Hsieh, DT
AF Bandino, Michelle L.
Garfinkle, Rebecca A.
Zickefoose, Betty A.
Hsieh, David T.
TI Epilepsy at a Summer Camp for Children and Young Adults With
Developmental Disabilities: A 3-Year Experience
SO MILITARY MEDICINE
LA English
DT Article
ID KNOWLEDGE; AUTISM; HEALTH; IMPACT
AB The comprehensive care of children with epilepsy involves not only the treatment of seizures but also enhancement of their quality of life. Children with developmental disabilities are often unable to attend traditional summer camps because of safety concerns, as their prevalence of epilepsy is high and tends to be more severe. The goal of the current study is to describe our epilepsy experience at a summer camp adapted for children with developmental disabilities, with which the U. S. military has had a long-standing relationship. A retrospective chart review of all children and young adults attending summer sessions between 2008 and 2010 was performed. A total of 1,526 camp sessions were attended by 818 campers (mean 13.7 years), with 32.3% of campers having epilepsy. Of campers with epilepsy, 46.6% had cerebral palsy, 57.6% intellectual disability, and 28.8% autism spectrum disorders. Seizure frequency was at least weekly in 21.2% and at least daily in 13.3%. A history of status epilepticus was reported in 34.9%. There were seven camp infirmary visits because of seizures (incidence 1.4%), including two for status epilepticus. Thus, despite a high prevalence of severe epilepsy, in the setting of appropriate safety precautions, a safe camp experience can be provided, as seizure-related complications are rare.
C1 [Bandino, Michelle L.; Garfinkle, Rebecca A.; Zickefoose, Betty A.; Hsieh, David T.] San Antonio Mil Med Ctr, Dept Pediat, Ft Sam Houston, TX 78234 USA.
[Garfinkle, Rebecca A.; Zickefoose, Betty A.; Hsieh, David T.] San Antonio Mil Med Ctr, Dept Pediat, Div Pediat Neurol, Ft Sam Houston, TX USA.
RP Bandino, ML (reprint author), San Antonio Mil Med Ctr, Dept Pediat, Ft Sam Houston, TX 78234 USA.
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NR 22
TC 0
Z9 0
PU ASSOC MILITARY SURG US
PI BETHESDA
PA 9320 OLD GEORGETOWN RD, BETHESDA, MD 20814 USA
SN 0026-4075
EI 1930-613X
J9 MIL MED
JI Milit. Med.
PD JAN
PY 2014
VL 179
IS 1
BP 105
EP 110
DI 10.7205/MILMED-D-13-00304
PG 6
WC Medicine, General & Internal
SC General & Internal Medicine
GA AN7UH
UT WOS:000340806000018
PM 24402994
ER
PT J
AU Del Giudice, M
AF Del Giudice, Marco
TI An Evolutionary Life History Framework for Psychopathology Marco Del
Giudice
SO PSYCHOLOGICAL INQUIRY
LA English
DT Article
DE evolutionary psychopathology; fast-slow continuum; individual
differences; life history strategies; life history theory; mental
disorders
ID OBSESSIVE-COMPULSIVE DISORDER; HIGHER-ORDER FACTORS; SPECTRUM QUOTIENT
AQ; COMMON MENTAL-DISORDERS; HUMAN REPRODUCTIVE STRATEGIES;
ANOREXIA-NERVOSA SUBTYPES; SMOKE DETECTOR PRINCIPLE; BROADER AUTISM
PHENOTYPE; SUBSTANCE USE DISORDERS; EATING-DISORDERS
AB In this article, I outline a general framework for the evolutionary analysis of mental disorders based on the concepts of life history theory. I synthesize and extend a large body of work showing that individual differences in life history strategy set the stage for the development of psychopathology. My analysis centers on the novel distinction between fast spectrum and slow spectrum disorders. I describe four main causal pathways from life history strategies to psychopathology, argue that psychopathology can arise at both ends of the fast-slow continuum of life history variation, and provide heuristic criteria for classifying disorders as fast or slow spectrum pathologies. I then apply the fast-slow distinction to a diverse sample of common mental disorders: externalizing disorders, schizophrenia and autism spectrum disorders, obsessive-compulsive disorders, eating disorders, and depression. The framework integrates previously disconnected models of psychopathology within a common frame of reference and has far-reaching implications for the classification of mental disorders.
C1 [Del Giudice, Marco] Univ New Mexico, Dept Psychol, Albuquerque, NM 87131 USA.
RP Del Giudice, M (reprint author), Univ New Mexico, Logan Hall,2001 Redondo Dr NE, Albuquerque, NM 87131 USA.
EM marcodg@unm.edu
RI Del Giudice, Marco/F-7007-2010
OI Del Giudice, Marco/0000-0001-8526-1573
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NR 506
TC 5
Z9 5
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1047-840X
EI 1532-7965
J9 PSYCHOL INQ
JI Psychol. Inq.
PY 2014
VL 25
IS 3-4
BP 261
EP 300
DI 10.1080/1047840X.2014.884918
PG 40
WC Psychology, Multidisciplinary
SC Psychology
GA AO0NL
UT WOS:000341006500001
ER
PT J
AU Del Giudice, M
AF Del Giudice, Marco
TI A Tower Unto Heaven: Toward an Expanded Framework for Psychopathology
SO PSYCHOLOGICAL INQUIRY
LA English
DT Article
ID LIFE-HISTORIES; BODY-SIZE
AB I respond to commentaries on my target article "An Evolutionary Life History Framework for Psychopathology." I start by addressing criticism of my basic assumptions about life history strategies and their implications for individual differences in human behavior. Next, I examine the theoretical structure of the proposed framework and respond to the commentators' challenges to its generality and flexibility. I show how the framework can be expanded to include multiple levels of analysis and to integrate behavioral control with neurological functionality; I also reinterpret the recent finding of a general factor of psychopathology in the context of the expanded framework. In the last section I discuss specific psychopathological conditions, namely attention deficit/hyperactivity disorder, borderline personality disorder, substance abuse, autism spectrum disorders, schizophrenia spectrum disorders, obsessive-compulsive disorder, eating disorders, and depression. For each condition, I reply to the commentators' criticism of my life history analysis, integrate their suggestions and insights, highlight the present weaknesses of the theory, and indicate promising directions for future research.
C1 [Del Giudice, Marco] Univ New Mexico, Dept Psychol, Albuquerque, NM 87131 USA.
RP Del Giudice, M (reprint author), Univ New Mexico, Logan Hall,2001 Redondo Dr NE, Albuquerque, NM 87131 USA.
EM marcodg@unm.edu
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NR 9
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1047-840X
EI 1532-7965
J9 PSYCHOL INQ
JI Psychol. Inq.
PY 2014
VL 25
IS 3-4
BP 394
EP 413
DI 10.1080/1047840X.2014.925339
PG 20
WC Psychology, Multidisciplinary
SC Psychology
GA AO0NL
UT WOS:000341006500020
ER
PT J
AU Knight, RM
Johnson, CM
AF Knight, Rachel M.
Johnson, C. Merle
TI Using a Behavioral Treatment Package for Sleep Problems in Children With
Autism Spectrum Disorders
SO CHILD & FAMILY BEHAVIOR THERAPY
LA English
DT Article
DE autism spectrum disorders; behavioral treatment; sleep disorders
ID PERVASIVE DEVELOPMENTAL DISORDERS; NIGHT WAKINGS; YOUNG-CHILDREN;
BEDTIME PROBLEMS; PARENTAL REPORT; INTERVENTION; ACTIGRAPHY; PATTERNS;
MEDICINE; INSOMNIA
AB This study investigated the effectiveness of a behavioral treatment package for sleep problems in children diagnosed with Autism Spectrum Disorders. Treatment consisted of four behaviorally based components: circadian rhythm management, positive bedtime routines, white noise, and graduated extinction. A multiple-baseline design across three participants was used. Families completed a baseline of various lengths followed by 1 month of intervention. Results indicated the treatment package was effective in decreasing sleep onset latency and the frequency of night awakenings. A week of follow-up data showed continued improvement. Parents reported their children slept better and satisfaction with the four intervention components.
C1 [Knight, Rachel M.; Johnson, C. Merle] Cent Michigan Univ, Dept Psychol, Mt Pleasant, MI 48859 USA.
[Knight, Rachel M.] Univ Nebraska Med Ctr, Munroe Meyer Inst, Omaha, NE USA.
RP Knight, RM (reprint author), Univ Michigan Hlth Syst, Dept Pediat, Taubman Ctr 1924, 1500 East Med Ctr Dr,SPC 5318, Ann Arbor, MI 48109 USA.
EM raknight@med.umich.edu
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NR 58
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0731-7107
EI 1545-228X
J9 CHILD FAM BEHAV THER
JI Child Fam. Behav. Ther.
PY 2014
VL 36
IS 3
BP 204
EP 221
DI 10.1080/07317107.2014.934171
PG 18
WC Psychology, Clinical; Family Studies
SC Psychology; Family Studies
GA AN2BG
UT WOS:000340387700003
ER
PT J
AU Fine, JG
Musielak, KA
Semrud-Clikeman, M
AF Fine, Jodene Goldenring
Musielak, Kayla A.
Semrud-Clikeman, Margaret
TI Smaller splenium in children with nonverbal learning disability compared
to controls, high-functioning autism and ADHD
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Corpus callosum; High functioning autism; Nonverbal learning disorder;
ADHD; Splenium; MRI; Asperger
ID DEFICIT HYPERACTIVITY DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY
DISORDER; CORPUS-CALLOSUM MORPHOLOGY; WORKING-MEMORY; CONNECTIVITY;
AGENESIS; AREA; CHILDHOOD; ADULTS; VOLUME
AB The current study investigated morphological differences in the corpus callosum in children ages 8 to 18 years old with nonverbal learning disability (NLD; n = 19), high-functioning autism (HFA; n = 23), predominantly inattentive ADHD (ADHD: PI; n = 23), and combined type ADHD (ADHD: C; n = 25), as well as those demonstrating typical development (n = 57). Midsagittal area of the corpus callosum and five midsagittal anterior-to-posterior corpus callosum segments were examined using magnetic resonance imaging. Controlling for midsagittal brain area and age, no group differences were found for total corpus callosum area. This finding indicates that higher functioning children on the autistic spectrum do not have smaller corpus callosi as has been found in previous research with heterogeneous samples. Following segmentation of the corpus callosum, the NLD group was observed to have significantly smaller splenia compared to all other groups. Smaller splenia in the NLD group was associated with lower WASI PIQ scores but not WASI VIQ scores. Children with HFA were observed to have larger midbody areas than children with NLD and neurotypically developing children. Children with HFA and NLD demonstrated behavioral symptoms of inattention and hyperactivity similar to the ADHD groups indicating that corpus callosum differences seen in the NLD and HFA groups are not related to these behaviors.
C1 [Fine, Jodene Goldenring; Musielak, Kayla A.] Michigan State Univ, Dept Counseling Educ Psychol & Special Educ, E Lansing, MI 48824 USA.
[Semrud-Clikeman, Margaret] Univ Minnesota, Dept Pediat, Med Ctr, Minneapolis, MN 55455 USA.
RP Fine, JG (reprint author), Michigan State Univ, Sch Psychol, 620 Farm Lane,440 Erickson Hall, E Lansing, MI 48824 USA.
EM finej@msu.edu
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NR 63
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0929-7049
EI 1744-4136
J9 CHILD NEUROPSYCHOL
JI Child Neuropsychol.
PY 2014
VL 20
IS 6
BP 641
EP 661
DI 10.1080/09297049.2013.854763
PG 21
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN3CV
UT WOS:000340463400001
PM 24215424
ER
PT J
AU Faja, S
Dawson, G
AF Faja, Susan
Dawson, Geraldine
TI Performance on the dimensional change card sort and backward digit span
by young children with autism without intellectual disability
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Autism; Executive function; Working memory; Flexibility; Symptoms;
Repetitive behaviors
ID EXECUTIVE FUNCTION; SPECTRUM DISORDERS; CENTRAL COHERENCE; REPETITIVE
BEHAVIORS; REAL-WORLD; MIND; SYMPTOMS; DEFICITS; PRESCHOOLERS; TASK
AB The early development of executive function (EF) and its relation to autism symptom expression is of considerable theoretical interest, particularly in children without general cognitive delay. Executive function was tested in 23 children with autism spectrum disorders (ASD) without intellectual disability and 20 age-and IQ-matched typically developing children. Even though performance was equivalent between the two groups on tests of general intelligence, flexibility in card sorting was lower for children with ASD. Verbal working memory during the backward digit span did not differ between groups. Among children with ASD, poorer performance on card sorting distinguished a subgroup with worse social-communication functioning above and beyond IQ. Controlling for IQ social and repetitive symptoms of ASD did not differ based on card sorting ability.
C1 [Faja, Susan] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA.
[Dawson, Geraldine] Duke Univ, Dept Psychiat & Behav Sci, Durham, NC USA.
RP Faja, S (reprint author), Univ Washington, Dept Psychiat & Behav Sci, Box 357920, Seattle, WA 98195 USA.
EM susfaja@uw.edu
FU NINDS Postdoctoral Award [T32NS007413]; Robert C. Bolles Graduate
Fellowship in Psychology; International Society of Autism Research
Dissertation Award; American Psychological Association Dissertation
Award; Now Young Investigator Award
FX An American Psychological Association Dissertation Award, International
Society of Autism Research Dissertation Award, Robert C. Bolles Graduate
Fellowship in Psychology, and NINDS Postdoctoral Award (T32NS007413) to
the first author supported this project. Additional support was provided
through collaboration with Michael Murias (Cure Autism Now Young
Investigator Award). The project is the sole responsibility of the
authors and does not necessarily reflect the views of the funding
agencies. We thank Jasleen Tiwana, Amandeep Kaur Virk, and Dana Kamara
for research assistance, Stephanie Carlson for helpful comments
regarding task selection, Jessica Greenson and Milani Smith for clinical
supervision, and we especially thank the participants and their
families. These data represent a portion of the first author's doctoral
dissertation, and the DCCS was presented at the International Meeting
for Autism Research, Philadelphia, PA in May 2010. The authors declare
that they have no conflict of interest.
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NR 33
TC 1
Z9 1
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0929-7049
EI 1744-4136
J9 CHILD NEUROPSYCHOL
JI Child Neuropsychol.
PY 2014
VL 20
IS 6
BP 692
EP 699
DI 10.1080/09297049.2013.856395
PG 8
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN3CV
UT WOS:000340463400004
PM 24266398
ER
PT J
AU McCann, JP
Rider, GN
Weiss, BA
Litman, FR
Baron, IS
AF McCann, James P.
Rider, G. Nicole
Weiss, Brandi A.
Litman, Fern R.
Baron, Ida Sue
TI Latent mean comparisons on the BRIEF in preterm children: Parent and
teacher differences
SO CHILD NEUROPSYCHOLOGY
LA English
DT Article
DE Extremely low birth weight; Factor analysis; Executive function;
Behavior rating inventory of executive function; Factor structure
ID BEHAVIOR RATING INVENTORY; LOW-BIRTH-WEIGHT; EXECUTIVE FUNCTION BRIEF;
AUTISM SPECTRUM DISORDERS; FIT INDEXES; ATTENTION; PRESCHOOLERS;
VALIDITY; IMPAIRMENTS; ADOLESCENTS
AB Executive function is a heterogeneous construct applied to cognitive capacities that together enable individuals to effectively engage in activities toward a purposive goal. Children born at extremely low birth weight (ELBW) are at risk of executive dysfunction on performance-based measures. In natural contexts, executive function may be described using such parental and teacher questionnaires as the Behavior Rating Inventory of Executive Function (BRIEF). This study examined the factor structure of the BRIEF-parent form in 124 ELBW children and of the BRIEF-teacher form in 90 ELBW children. Although our data showed that the fit of a two-factor structure was adequate for the parent report, a three-factor model provided advantages over the two-factor model across all fit indices and best characterized the data. For teacher report, these data supported a three-factor but not a two-factor model. Using the three-factor model for both groups of informants, we compared parent and teacher reports (n = 90 pairs) between the three identified latent variables. Parents reported significantly more difficulty with Emotional Regulation (p < .05), and teachers reported significantly more difficulty with Behavioral Regulation (p < .05). No significant differences were found between parent and teacher reports for Metacognition.
C1 [McCann, James P.; Rider, G. Nicole; Weiss, Brandi A.; Litman, Fern R.; Baron, Ida Sue] Inova Childrens Hosp, Fairfax Neonatal Associates, Fairfax, VA 22031 USA.
RP Baron, IS (reprint author), Inova Childrens Hosp, Fairfax Neonatal Associates, ABPP CN 2720 Prosper Ave,Suite 400 D, Fairfax, VA 22031 USA.
EM ida@isbaron.com
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NR 41
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 0929-7049
EI 1744-4136
J9 CHILD NEUROPSYCHOL
JI Child Neuropsychol.
PY 2014
VL 20
IS 6
BP 737
EP 751
DI 10.1080/09297049.2013.859663
PG 15
WC Clinical Neurology
SC Neurosciences & Neurology
GA AN3CV
UT WOS:000340463400007
PM 24295445
ER
PT J
AU Ayaz, AB
Gokce, S
Gumustas, F
Ayaz, M
AF Ayaz, Ayse Burcu
Gokce, Sebla
Gumustas, Funda
Ayaz, Muhammed
TI Symptoms of autism spectrum disorder in subtypes of
attention-deficit/hyperactivity disorder
SO JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
LA English
DT Article
DE children; attention-deficit/hyperactivity disorder; autism spectrum
disorder symptoms
ID DEFICIT-HYPERACTIVITY DISORDER; RECIPROCAL SOCIAL-BEHAVIOR; FAMILIAL
TRAIT; CHILDREN; ADHD; PSYCHOPATHOLOGY; TWINS
AB Background This study aimed to compare symptoms of autism spectrum disorder (ASD) in children according to attention-deficit/hyperactivity disorder (ADHD) subtypes and children without ADHD.
Method The Schedule for Affective Disorders and Schizophrenia for School-Age Children - Present and Lifetime Version (K-SADS-PL), the Social Responsiveness Scale (SRS), the Childhood Behavior Checklist (CBCL), and the ADHD Rating Scale (ADHD-RS) were used to evaluate the children.
Results ASD symptoms were significantly higher in all ADHD subtypes. After controlling for age, gender, and CBCL social withdrawal score, the difference in ASD symptoms between the 3 ADHD subtypes was not significant.
Conclusions Children with ADHD, regardless of subtype, had a similar risk of ASD symptoms.
C1 [Ayaz, Ayse Burcu; Ayaz, Muhammed] Sakarya Univ, Child & Adolescent Psychiat Outpatient Clin, Training & Res Hosp, Sakarya, Turkey.
[Gokce, Sebla] Erenkoy Psychiat & Neurol Res & Training Hosp, Child & Adolescent Psychiat Outpatient Clin, Istanbul, Turkey.
[Gumustas, Funda] Adiyaman Univ, Child & Adolescent Psychiat Outpatient Clin, Training & Res Hosp, Adiyaman, Turkey.
RP Ayaz, AB (reprint author), Istiklal Mah Mehmet Altinisik Cad Defne Sok Osman, TR-54100 Serdivan Sakarya, Turkey.
EM drburcu2000@yahoo.com
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NR 29
TC 0
Z9 0
PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
PI ABINGDON
PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND
SN 1366-8250
EI 1469-9532
J9 J INTELLECT DEV DIS
JI J. Intellect. Dev. Dis.
PY 2014
VL 39
IS 3
BP 290
EP 297
DI 10.3109/13668250.2014.916184
PG 8
WC Education, Special; Rehabilitation
SC Education & Educational Research; Rehabilitation
GA AN2ZY
UT WOS:000340455800008
ER
EF