Cited by 147Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersWilliams Syndrome Research

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Rethinking the nature of genetic vulnerability to autistic spectrum disorders

Skuse, David H.·2007·Trends in Genetics

DOI 10.1016/j.tig.2007.06.003

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Abstract

Autism is a common and genetically heterogeneous disorder, with an estimated heritability of >90%. Its specific underlying causes are largely unknown. Here, I propose that low levels of autistic vulnerability, reflected in social-cognitive processing differences, do not necessarily manifest in a behavioural phenotype but are usually compensated for during development. They are more likely to lead to a recognizable syndrome among individuals of low intelligence, who are male or have independent neurodevelopmental vulnerability owing to a wide range of gene mutations, chromosomal anomalies or environmental insults. Consequently, the apparent association between mental retardation and autistic syndromes is not because they usually have common causes, but rather because the presence of both features greatly increases the probability of clinical ascertainment.

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Authors: Skuse, D. H.
Affiliations: University College London (GB)
Corresponding author: Skuse, David H.
ORCID: Skuse, David H.
Venue: Trends in Genetics
Publisher: Elsevier BV
Published: 2007-08
Volume: 23
Issue: 8
Pages: 387-395
ISSN: 0168-9525 (ISSN-L)
DOI: 10.1016/j.tig.2007.06.003
OpenAlex: W2025142360
Cited by: 147
References: 80
Citations by year: 2023: 4 · 2022: 7 · 2021: 3 · 2020: 3 · 2019: 5 · 2018: 5 · 2017: 6 · 2016: 4 · 2015: 6 · 2014: 12 · 2013: 11 · 2012: 15
FWCI: 1.01
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Trends in Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Funders: Simons Foundation
Autism Research Foundation
Wellcome Trust
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: autism spectrum disorder, genetic susceptibility, heritability, behavioral phenotypes, developmental compensation, intellectual disability, chromosomal abnormalities, genetic mutations, environmental insults, sex differences
MeSH terms: Autistic Disorder, Female, Humans, Male, Intellectual Disability, Phenotype, Twins, Sex Distribution, Heredity

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Rethinking the nature of genetic vulnerability to autistic spectrum disorders

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