Autism spectrum disorder in fragile X syndrome: Cooccurring conditions and current treatment

Walter E. Kaufmann, Sharon A. Kidd, Howard F. Andrews, Dejan B. Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L. Sherman, W. Ted Brown, Elizabeth Berry-Kravis

    Research output: Contribution to journalArticlepeer-review

    57 Scopus citations


    Background and objective: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. Methods: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using χ2 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status. Results: Half of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of α-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD. Conclusions: These findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.

    Original languageEnglish (US)
    Pages (from-to)S194-S206
    StatePublished - Jun 2017

    Bibliographical note

    Funding Information:
    Supported by cooperative agreements 5U01DD000231 and 5U19DD000753-02 with the Centers for Disease Control and Prevention.

    Publisher Copyright:
    © Copyright 2017 by the American Academy of Pediatrics. All rights reserved.


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