Genetics of autism: complex aetiology for a heterogeneous disorder

Nat Rev Genet. 2001 Dec;2(12):943-55. doi: 10.1038/35103559.


Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.

Publication types

  • Review

MeSH terms

  • Autistic Disorder / etiology
  • Autistic Disorder / genetics*
  • Chromosome Mapping
  • Female
  • Genetic Counseling
  • Genome, Human
  • Humans
  • Male
  • Phenotype