Genetic heterogeneity between the three components of the autism spectrum: a twin study

J Am Acad Child Adolesc Psychiatry. 2006 Jun;45(6):691-699. doi: 10.1097/01.chi.0000215325.13058.9d.


Objective: This study investigated the etiology of autistic-like traits in the general population and the etiological overlap between the three aspects of the triad of impairments (social impairments, communication impairments, restricted repetitive behaviors and interests) that together define autism spectrum disorders.

Method: Parents of 3,400 8-year-old twin pairs from the Twins Early Development Study completed the Childhood Asperger Syndrome Test, a screening instrument for autism spectrum symptoms in mainstream samples. Genetic model-fitting of categorical and continuous data is reported.

Results: High heritability was found for extreme autistic-like traits (0.64-0.92 for various cutoffs) and autistic-like traits as measured on a continuum (0.78-0.81), with no significant shared environmental influences. All three subscales were highly heritable but showed low covariation. In the genetic modeling, distinct genetic influences were identified for the three components.

Conclusions: These results suggest the triad of impairments that define autism spectrum disorders is heterogeneous genetically. Molecular genetic research examining the three components separately may identify different causal pathways for the three components. The analyses give no indication that different genetic processes affect extreme autistic impairments and autistic impairments as measured on a continuum, but this can only be directly tested once genes are identified.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Asperger Syndrome / genetics
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics*
  • Child
  • Communication Disorders / etiology
  • Communication Disorders / genetics*
  • Environment
  • Genetic Heterogeneity*
  • Humans
  • Interview, Psychological
  • Male
  • Social Behavior Disorders / etiology
  • Social Behavior Disorders / genetics*