Document Detail

Evidence of a distinct behavioral phenotype in young boys with fragile x syndrome and autism.
MedLine Citation:
PMID:  23200289     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVE: How does the behavioral expression of autism in fragile X syndrome (FXS + Aut) compare with idiopathic autism (iAut)? Although social impairments and restricted, repetitive behaviors are common to these variants of autism, closer examination of these symptom domains may reveal meaningful similarities and differences. To this end, the specific behaviors comprising the social and repetitive behavioral domains in young children with FXS + Aut and iAut were profiled.
METHOD: Twenty-three male subjects 3 to 5 years old with FXS + Aut were matched by age to a group of 38 boys with iAut. Repetitive behavior was assessed using the Repetitive Behavior Scales-Revised. Social behavior was evaluated using Autism Diagnostic Observation Schedule social item severity scores.
RESULTS: Rates of stereotypy, self-injury, and sameness behaviors did not differ between groups, whereas compulsive and ritual behavior scores were significantly lower for subjects with FXS + Aut compared with those with iAut. Those with FXS + Aut scored significantly lower (less severe) than the iAut group on five Autism Diagnostic Observation Schedule measurements of social behavior: gaze integration, quality of social overtures, social smile, facial expressions, and response to joint attention.
CONCLUSIONS: The behavioral phenotype of FXS + Aut and iAut are most similar with respect to lower-order (motoric) restricted, repetitive behaviors and social approach, but differ in more complex forms of restricted, repetitive behaviors and some social response behaviors. These findings highlight the phenotypic heterogeneity of autism overall and its unique presentation in an etiologically distinct condition.
Jason J Wolff; James W Bodfish; Heather C Hazlett; Amy A Lightbody; Allan L Reiss; Joseph Piven
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the American Academy of Child and Adolescent Psychiatry     Volume:  51     ISSN:  1527-5418     ISO Abbreviation:  J Am Acad Child Adolesc Psychiatry     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-03     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8704565     Medline TA:  J Am Acad Child Adolesc Psychiatry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1324-32     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Drs. Reiss and Piven contributed equally to this research. Drs. Wolff, Bodfish, Hazlett, and Piven are with the Carolina Institute for Developmental Disabilities and the University of North Carolina at Chapel Hill. Electronic address:
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