Review

European Child & Adolescent Psychiatry

, Volume 19, Issue 3, pp 169-178

Open Access This content is freely available online to anyone, anywhere at any time.

Genetics of autistic disorders: review and clinical implications

  • Christine M. FreitagAffiliated withDepartment of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Johann Wolfgang Goethe-University Email author 
  • , Wouter StaalAffiliated withDepartment of Child and Adolescent Psychiatry, UMC Utrecht
  • , Sabine M. KlauckAffiliated withDivision of Molecular Genome Analysis, German Cancer Research Center (DKFZ)
  • , Eftichia DuketisAffiliated withDepartment of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Johann Wolfgang Goethe-University
  • , Regina WaltesAffiliated withDepartment of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy, Johann Wolfgang Goethe-University

Abstract

Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions.

Keywords

Autistic disorder Linkage Whole genome association Copy number variation Mutation