Heritability of autism spectrum disorders: a meta-analysis of twin studies

J Child Psychol Psychiatry. 2016 May;57(5):585-95. doi: 10.1111/jcpp.12499. Epub 2015 Dec 27.


Background: The etiology of Autism Spectrum Disorder (ASD) has been recently debated due to emerging findings on the importance of shared environmental influences. However, two recent twin studies do not support this and instead re-affirm strong genetic effects on the liability to ASD, a finding consistent with previous reports. This study conducts a systematic review and meta-analysis of all twin studies of ASD published to date and explores the etiology along the continuum of a quantitative measure of ASD.

Methods: A PubMed Central, Science Direct, Google Scholar, Web of Knowledge structured search conducted online, to identify all twin studies on ASD published to date. Thirteen primary twin studies were identified, seven were included in the meta-analysis by meeting Systematic Recruitment criterion; correction for selection and ascertainment strategies, and applied prevalences were assessed for these studies. In addition, a quantile DF extremes analysis was carried out on Childhood Autism Spectrum Test scores measured in a population sample of 6,413 twin pairs including affected twins.

Results: The meta-analysis correlations for monozygotic twins (MZ) were almost perfect at .98 (95% Confidence Interval, .96-.99). The dizygotic (DZ) correlation, however, was .53 (95% CI .44-.60) when ASD prevalence rate was set at 5% (in line with the Broad Phenotype of ASD) and increased to .67 (95% CI .61-.72) when applying a prevalence rate of 1%. The meta-analytic heritability estimates were substantial: 64-91%. Shared environmental effects became significant as the prevalence rate decreased from 5-1%: 07-35%. The DF analyses show that for the most part, there is no departure from linearity in heritability.

Conclusions: We demonstrate that: (a) ASD is due to strong genetic effects; (b) shared environmental effects become significant as a function of lower prevalence rate; (c) previously reported significant shared environmental influences are likely a statistical artefact of overinclusion of concordant DZ twins.

Keywords: Autism spectrum disorders; DF extremes analysis; heritability; meta-analysis; twin studies.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review
  • Twin Study

MeSH terms

  • Autism Spectrum Disorder / epidemiology
  • Autism Spectrum Disorder / etiology
  • Autism Spectrum Disorder / genetics*
  • Diseases in Twins / epidemiology
  • Diseases in Twins / etiology
  • Diseases in Twins / genetics*
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / etiology
  • Genetic Predisposition to Disease / genetics*
  • Humans