The genetics of autistic disorders and its clinical relevance: a review of the literature

Mol Psychiatry. 2007 Jan;12(1):2-22. doi: 10.1038/ Epub 2006 Oct 10.


Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

Publication types

  • Review

MeSH terms

  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics*
  • Diagnosis, Differential
  • Genetic Counseling*
  • Humans
  • Phenotype