NDLI: Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hernandez, R. Nick Feinberg, Rachel L. Vaurio, Rebecca Passanante, Natalie M. Thompson, Richard E. Kaufmann, Walter E.
Description	Country affiliation: United States Author Affiliation: Hernandez RN ( Kennedy Krieger Institute, Baltimore, MD 21211, USA.)
Abstract	The present study extends our previous work on characterizing the autistic behavior profile of boys with fragile X syndrome (FXS) who meet Diagnostic and Statistical Manual for Mental Disorders, 4th Edition criteria for autism spectrum disorder (ASD) into a longitudinal evaluation of ASD in FXS (FXS + ASD). Specifically, we aimed to determine the stability of the diagnosis and profile of ASD in FXS over time. Through regression models, we also evaluated which autistic and social behaviors and skills were correlates of diagnosis and autistic behavior severity (i.e., Autism Diagnostic Interview-Revised total scores). Finally, we assessed the evolution of cognitive parameters in FXS + ASD. A population of 56 boys (30-88 months at baseline) with FXS was evaluated using measures of autistic, social, and cognitive behaviors and skills at three yearly evaluations. We found that the diagnosis of ASD in FXS was relatively stable over time. Further emphasizing this stability, we found a set of behaviors and skills, particularly those related to peer relationships and adaptive socialization, that differentiated FXS + ASD from the rest of the FXS cohort (FXS + None) and contributed to autistic severity at all time points. Nevertheless, the general improvement in autistic behavior observed in FXS + ASD coupled with the concurrent worsening in FXS + None resulted in less differentiation between the groups over time. Surprisingly, FXS + ASD IQ scores were stable while FXS + None non-verbal IQ scores declined. Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.32848
Journal	American Journal of Medical Genetics Part A
Issue Number	6
Volume Number	149A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Autistic Disorder Diagnosis Child Development Disorders, Pervasive Fragile X Syndrome Adaptation, Psychological Complications Psychology Child Behavior Child, Preschool Cohort Studies Interpersonal Relations Interview, Psychological Language Disorders Language Tests Longitudinal Studies Reference Values Regression Analysis Severity Of Illness Index Social Behavior Stanford-binet Test Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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