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Genetics of autism spectrum disorders

Rutter, Michael and Thapar, Anita ORCID: 2014. Genetics of autism spectrum disorders. Volkmar, Fred R., Rhea, Paul, Rogers, Sally J. and Pelphrey, Kevin A., eds. Handbook of Autism and Pervasive Developmental Disorders, Vol. 1. Hoboken, New Jersey: John Wiley & Sons Inc, pp. 411-423.

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Recent research has shown that the traditional concept that each diagnosis is separate from all others is mistaken. The evidence shows the high level of overlap. Molecular genetic studies have shown that many genetic influences are pleiotropic and probabilistic, as well as having limited diagnostic specificity. Both common polymorphic variations and rare variants are involved. Single gene disorders are discussed with a focus on their possible reversibility. The goal of identifying causal biological pathways is sound, but the search has had very limited success so far. Although it is clear that genetic influences are very important in the liability to autism, the direct clinical implications are quite limited.

Item Type: Book Section
Date Type: Publication
Status: Published
Schools: Neuroscience and Mental Health Research Institute (NMHRI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: biological pathways; clinical implications; fragile X syndrome; measurement of risk; molecular genetics; Rett syndrome; tuberous sclerosis; twin studies
Publisher: John Wiley & Sons Inc
ISBN: 9781118140680
Last Modified: 31 Oct 2022 09:01

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