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A Twin Study of Heritable and Shared Environmental Contributions to Autism
Open accessAbstract
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 ([Formula: see text]). 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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“Autism is considered to be driven genetically [146,147], though only small percentage of cases are clearly linked to genetic causes [22].”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [146]
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Metadata
- Authors
- Frazier, T. W., Thompson, L., Youngstrom, E. A., Law, P., Hardan, A. Y., Eng, C., & Morris, N.
- Affiliations
- Cleveland Clinic (US)
- Case Western Reserve University (US)
- University of North Carolina at Chapel Hill (US)
- Kennedy Krieger Institute (US)
- Stanford University (US)
- Corresponding author
- Frazier, Thomas W.
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2014-03-07
- Volume
- 44
- Issue
- 8
- Pages
- 2013-2025
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- PMC
- PMC4104233
- OpenAlex
- W2053261697
- Cited by
- 120
- References
- 92
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 8 · 2023: 17 · 2022: 8 · 2021: 9 · 2020: 10 · 2019: 12 · 2018: 10 · 2017: 12 · 2016: 15 · 2015: 6 · 2014: 4
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Autism Speaks
- Cleveland Clinic
- Case Western Reserve University (UL1RR024989)
- Georgia Clinical and Translational Science Alliance (UL1 RR024989)
- National Institutes of Health (KL2TR000440, RR024989)
- Centers for Disease Control and Prevention
- National Center for Research Resources (RR 024989, UL1RR024989)
- National Center for Advancing Translational Sciences (RR024989)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, heritability, shared environment, twin studies, genetic factors, liability threshold model, Social Communication Questionnaire, Social Responsiveness Scale
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Diseases in Twins, Female, Humans, Male, Surveys and Questionnaires, Twins, Dizygotic, Twins, Monozygotic, Genetic Predisposition to Disease, Gene-Environment Interaction
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