Co-occurring medical conditions among individuals with ASD-associated disruptive mutations

ABSTRACT

Children with autism spectrum disorder (ASD) are at risk for co-occurring medical conditions, many of which have also been reported among individuals with mutations in ASD-associated genes. This study examined rates of co-occurring medical conditions across 301 individuals with disruptive mutations to 1 of 18 ASD-risk genes in comparison to rates of conditions in an idiopathic ASD sample. Rates of gastrointestinal problems, seizures, physical anomalies, and immune problems were generally elevated, with significant differences in rates observed between groups. Results may inform medical care of individuals with ASD-associated mutations and research into mechanisms of co-occurring medical conditions in ASD.

Acknowledgments

We thank the children and families for their participation in this study. We are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren, E. Wijsman).

Disclosure statement

E.E.E. is on the Scientific Advisory Board of DNAnexus, Inc. The remaining authors have no conflicts of interest to report.

Data availability statement

The data that support the findings of this study are available on request from the National Database for Autism Research (RRID: SCR_004434), https://nda.nih.gov/ and the Simons Foundation Autism Research Initiative (RRID: SCR_004261), https://sfari.org/.

Supplementary material

Supplemental data for this article can be accessed on the publisher’s website

Additional information

Funding

This work was supported by the National Institute of Mental Health [MH100047 to RAB; MH101221 to EEE] and by a grant from the Simons Foundation to RAB and the Simons Variation in Individuals Project.