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

The DOI matches its Crossref record; 77 of the 80 references it cites were found in a registry or an index.

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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Crossref · 10.1016/j.tig.2007.06.003

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Metadata

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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