Show Summary Details
Page of

An Overview of the Genetics of Autism Spectrum Disorders 

An Overview of the Genetics of Autism Spectrum Disorders
An Overview of the Genetics of Autism Spectrum Disorders

Joseph D. Buxbaum

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 01 December 2020

There is very good evidence for a strong genetic component to the autism spectrum disorders (ASDs), which include autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, and Rett syndrome. At the same time, identifying the loci contributing to ASD risk has proven difficult because of extreme heterogeneity. However, in spite of these difficulties, many ASD loci have been identified and, even using current clinical measures, an etiological diagnosis can be given in upward of 20% of cases. With the introduction of “second-generation” sequencing, gene discovery in ASDs will accelerate. As genes are being discovered, functional analyses are leading to potential novel therapeutics, and there is great optimism for more effective treatments in ASDs arising from gene discovery. In the current review, some of the important findings in ASD genetics will be outlined, as will the next steps in ASD genetics.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.