The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications
Open accessAbstract
Autism spectrum disorders (ASDs) are highly heritable. Gene discovery promises to help illuminate the pathophysiology of these syndromes, yielding opportunities for the development of novel treatments and understanding of their natural history. Although the underlying genetic architecture of ASDs is not yet known, the literature demonstrates that it is not a monogenic disorder with mendelian inheritance, rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes. This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries.
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ASD is considered one of the most heritable neurodevelopmental disorders.
“Although ASD is considered one of the most heritable neurodevelopmental disorders [ 12 , 13 ], single genetic anomalies account for only a small proportion of affected cases [ 14 , 15 ].”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [12]
Genes linked to ASD rarely segregate in a simple Mendelian manner.
“Furthermore, genes linked to ASD rarely segregate in a simple Mendelian manner [ 12 ].”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [12]
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Akat, A., & Karaöz, E. (2023) · Middle East Current Psychiatry · doi:10.1186/s43045-023-00363-9 · Cited by 6 · see citing works
De novo variants in immune regulatory genes in Down syndrome regression disorder
Jafarpour, S., Banerjee, A. K., Khoshnood, M. M., Vogel, B. N., Boyd, N. K., Nguyen, L., Partridge, R., Santoro, S. L., Gombolay, G. Y., Fisher, K. S., et al. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12521-y · Cited by 6 · see citing works
Genetic Pathways Implicated in Speech and Language
Vernes, S. C., & Fisher, S. E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-8400-4_2 · Cited by 5 · see citing works
Diagnostic shortfalls in early childhood chronic stress: a review of the issues
Klein, B., Gorter, J. W., & Rosenbaum, P. (2012) · Child Care Health and Development · doi:10.1111/cch.12009 · Cited by 5 · see citing works
The Genetics of Autism Spectrum Disorders
John, J. M., & Hakonarso, H. (2011) · InTech eBooks · doi:10.5772/10601 · Cited by 5 · see citing works
Advances and Challenges in the Genetics of Autism
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HISTORY, EPIDEMIOLOGY, AND PUTATIVE MOLECULAR BASIS OF AUTISM SPECTRUM DISORDER
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- Authors
- El-Fishawy, P., & State, M. W.
- Affiliations
- Yale University (US)
- Corresponding author
- State, Matthew W.
- ORCID
- State, Matthew W.
- Venue
- Psychiatric Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2010-03
- Volume
- 33
- Issue
- 1
- Pages
- 83-105
- ISSN
- 0193-953X (ISSN-L)
- PMC
- PMC2841771
- OpenAlex
- W2124263524
- Cited by
- 166
- References
- 101
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2023: 7 · 2022: 5 · 2021: 15 · 2020: 6 · 2019: 3 · 2018: 6 · 2017: 12 · 2016: 10 · 2015: 6 · 2014: 12 · 2013: 22 · 2012: 26
- FWCI
- 1.84
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Psychiatric Clinics of North America (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (RC2MH089956)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, genetic architecture, common genetic variants, rare variants, heritability, polygenic risk, treatment development, natural history (disease)
- MeSH terms
- Abnormalities, Multiple, Alleles, Autistic Disorder, Humans, Karyotyping, Social Behavior, Genetic Variation, Gene Expression, Point Mutation, Genetic Association Studies
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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