Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors

Walter E. Kaufmann, Ranon Cortell, Alice S.M. Kau, Irena Bukelis, Elaine Tierney, Robert M. Gray, Christiane Cox, George T. Capone, Pia Stanard

Research output: Contribution to journalArticlepeer-review


The present study extends our previous work on social behavior impairment in young males with fragile X syndrome (FraX). Specifically, we evaluated whether the autistic phenomenon in FraX is expressed as a range of behavioral impairments as in idiopathic autism (Aut). We also examined whether there are behaviors, identified as items of the Autism Diagnostic Interview-Revised (ADI-R), that in FraX predispose to or differentiate subjects with autism spectrum disorder (ASD) diagnosis. Finally, regression models were utilized to test the relative contribution of reduced communication and socialization skills to ADI-R scores and diagnoses. A cohort of 56 boys (3-8 years) with FraX was examined in terms of scores on measures of cognition (IQ was a co-variate in most analyses.), autistic behavior, problem/aberrant behavior, adaptive behavior, and language development. We found that, indeed, in terms of problem behavior and adaptive skills, there is a range of severity from FraX + Aut to FraX + PDD (Pervasive Developmental Disorder) to FraX + none. ADI-R items representing "Play" types of interaction appear to be "susceptibility" factors since they were abnormal across the FraX cohort. Integrated regression models demonstrated that items reflecting complex social interaction differentiated the FraX + ASD (Aut + PDD) subgroup from the rest of the FraX cohort, while abnormalities in basic verbal and non-verbal communication distinguished the most severely affected boys with FraX + Aut from the milder FraX + PDD cohort. Models incorporating language, adaptive communication, and adaptive socialization skills revealed that socialization was not only the main influence on scores but also a predictor of ASD diagnosis. Altogether, our findings demonstrate that the diagnosis of ASD in FraX reflects, to a large extent, an impairment in social interaction that is expressed with variable severity in young males with FraX.

Original languageEnglish (US)
Pages (from-to)225-234
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume129 A
Issue number3
StatePublished - Sep 1 2004


  • Autism
  • Autism diagnostic interview (ADI)
  • Communication
  • Fragile X
  • Social withdrawal
  • Socialization

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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