The genetics of autism

Acta Psychiatr Scand. 2001 Jun;103(6):411-27. doi: 10.1034/j.1600-0447.2001.00086.x.


Objective: To review systematically the empirical evidence for the involvement of genetic risk factors in infantile autism.

Method: We aimed at including all relevant papers written in English. We conducted a Medline search in September 2000. In addition we searched the reference lists of related papers.

Results: A relatively small number of reports including family and twin studies, comorbidity, cytogenetic and molecular genetic studies were reviewed.

Conclusion: As well family, twin, cytogenetic and molecular genetic studies supported the importance of genetic risk factors in infantile autism. In most individual cases probably at least a few gene variants simultaneously determine the genetic risk. Presently the most interesting chromosome regions concerning the aetiology of autism are chromosomes 7q31-35, 15q11-13 and 16p13.3 which have been suggested by different lines of genetic research.

Publication types

  • Review

MeSH terms

  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Comorbidity
  • Humans
  • Infant
  • Infant, Newborn
  • Molecular Biology
  • Nuclear Family
  • Pedigree
  • Risk Factors
  • Twin Studies as Topic