Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020;49(4):361-384.
doi: 10.1080/02739615.2020.1741361. Epub 2020 Mar 17.

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

Evangeline C Kurtz-Nelson  1 , Jennifer S Beighley  1 , Caitlin M Hudac  2 , Jennifer Gerdts  1 , Arianne S Wallace  1 , Kendra Hoekzema  3 , Evan E Eichler  3   4 , Raphael A Bernier  1
Affiliations

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

Evangeline C Kurtz-Nelson et al. Child Health Care. 2020.

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.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Percentage and number of participants with reported ASD and ID across genetic mutation groups. Participants may or may not have been previously evaluated for ASD or ID.
Figure 2.
Figure 2.
Percentage and number of participants with reported gastrointestinal problems across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
Figure 3.
Figure 3.
Percentage and number of participants with reported seizures across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
Figure 4.
Figure 4.
Percentage and number of participants with reported macrocephaly and microcephaly across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
Figure 5.
Figure 5.
Percentage and number of participants with reported structural problems across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
Figure 6.
Figure 6.
Percentage and number of participants with reported hearing and vision problems across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
Figure 7.
Figure 7.
Percentage and number of participants with reported immune problems across idiopathic ASD, all participants with an ASD-associated mutation (monogenic), and specific genetic mutation groups.
See this image and copyright information in PMC

References

    1. Adams DJ, Susi A, Erdie-Lalena CR, Gorman G, Hisle-Gorman E, Rajnik M, … & Nylund CM (2016). Otitis media and related complications among children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 46(5), 1636–1642. - PubMed
    1. Aldinger KA, Lane CJ, Veenstra-VanderWeele J, & Levitt P (2015). Patterns of risk for multiple co-occurring medical conditions replicate across distinct cohorts of children with autism spectrum disorder. Autism Research, 8(6), 771–781. - PMC - PubMed
    1. Allen EK, Chen WM, Weeks DE, Chen F, Hou X, Mattos JL, … & Sale MM (2013). A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2. Journal of the Association for Research in Otolaryngology, 14(6), 791–800. - PMC - PubMed
    1. American Academy of Pediatrics. (2002). The medical home. Pediatrics, 110(1), 184–186. - PubMed
    1. American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (DSM-5). Washington, DC: American Psychiatric Association.

LinkOut - more resources