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A Twin Study of Heritable and Shared Environmental Contributions to Autism

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Abstract

The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness Scale. Categorically-defined ASD was based on clinical diagnoses. DeFries-Fulker and liability threshold models examined etiologic influences. Very high heritability was observed for extreme autism symptom levels (\( {\text{h}}_{g}^{2} = . 9 2{-} 1. 20 \)). Extreme levels of social and repetitive behavior symptoms were strongly influenced by common genetic factors. Heritability of categorically-defined ASD diagnosis was comparatively low (.21, 95 % CI 0.15–0.28). High heritability of extreme autism symptom levels confirms previous observations of strong genetic influences on autism. Future studies will require large, carefully ascertained family pedigrees and quantitative symptom measurements.

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Acknowledgments

The authors also wish to acknowledge the important contribution of the participants with autism, their siblings, and their families. This work was made possible by the Case Western Reserve University/Cleveland Clinic CTSA Grant Number UL1 RR024989 provided by the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health. The IAN registry is supported by funding from Autism Speaks and the Kennedy Krieger Institute. The views and opinions expressed in this article are those of the authors and should not be construed to represent the views of any of the sponsoring organizations, agencies, or US government.

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Authors and Affiliations

  1. Center for Autism, The Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, 44195, USA

    Thomas W. Frazier

  2. Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA

    Thomas W. Frazier & Charis Eng

  3. Department of Medical Informatics and the Interactive Autism Network, Kennedy Krieger Institute, Baltimore, MD, USA

    Paul Law

  4. Department of Psychiatry and Behavioral Sciences, Stanford, Stanford, CA, USA

    Antonio Y. Hardan

  5. Department of Psychology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Eric A. Youngstrom

  6. Departments of Psychological Sciences, Case Western Reserve University, Cleveland, OH, USA

    Lee Thompson

  7. Departments of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA

    Nathan Morris

  8. Departments of Genetics, Case Western Reserve University, Cleveland, OH, USA

    Charis Eng

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Correspondence to Thomas W. Frazier.

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Frazier, T.W., Thompson, L., Youngstrom, E.A. et al. A Twin Study of Heritable and Shared Environmental Contributions to Autism. J Autism Dev Disord 44, 2013–2025 (2014). https://doi.org/10.1007/s10803-014-2081-2

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