Genetic advances in Autism

Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X and Rutter, Michael 2021. Genetic advances in Autism. Journal of Autism and Developmental Disorders 51 , pp. 4321-4332. 10.1007/s10803-020-04685-z

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Abstract

In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information:	This article is licensed under a Creative Commons Attribution 4.0 International License
Publisher:	Springer Verlag (Germany)
ISSN:	0162-3257
Funders:	Wellcome Trust, MRC
Date of First Compliant Deposit:	17 September 2020
Date of Acceptance:	25 August 2020
Last Modified:	05 May 2023 00:07
URI:	https://orca.cardiff.ac.uk/id/eprint/134896

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