How to cite this article: Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE. 2009. Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation. Am J Med Genet Part A 149A:1125–1137.
Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation†
Article first published online: 13 MAY 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 6, pages 1125–1137, June 2009
How to Cite
Hernandez, R. N., Feinberg, R. L., Vaurio, R., Passanante, N. M., Thompson, R. E. and Kaufmann, W. E. (2009), Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation. Am. J. Med. Genet., 149A: 1125–1137. doi: 10.1002/ajmg.a.32848
- Issue published online: 26 MAY 2009
- Article first published online: 13 MAY 2009
- Manuscript Accepted: 6 FEB 2009
- Manuscript Received: 16 SEP 2008
- National Institutes of Health. Grant Numbers: HD33175, MH67092
- fragile X;
- Autism diagnostic interview;
- adaptive socialization
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. © 2009 Wiley-Liss, Inc.