The genetics of child psychiatric disorders: focus on autism and Tourette syndrome
Open accessAbstract
Investigations into the genetics of child psychiatric disorders have finally begun to shed light on molecular and cellular mechanisms of psychopathology. The first strains of success in this notoriously difficult area of inquiry are the result of an increasingly sophisticated appreciation of the allelic architecture of common neuropsychiatric and neurodevelopmental disorders, the consolidation of large patient cohorts now beginning to reach sufficient size to power reliable studies, the emergence of genomic tools enabling comprehensive investigations of rare as well as common genetic variation, and advances in developmental neuroscience that are fueling the rapid translation of genetic findings.
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Genome-wide association studies have not detected a strong contribution of common alleles to ASD.
“Genome-wide association studies (GWAS) have so far detected no strong contribution of common alleles (State, 2010), motivating renewed interest in rare variants (Malhotra and Sebat, 2012).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as State, 2010
This synaptic model led to successful exploration of synaptic scaffolding molecules and other synaptic genes as ASD susceptibility genes.
“This was a highly productive model based on several forms of Mendelian mutations in ASD, which has led to successful exploration of synaptic scaffolding molecules and other synaptic genes as ASD susceptibility genes [27, 46].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [46]
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References 162 · Cited by 162
Research works printed but not linked: 1
- [116]Pinto D Pagnamenta AT Klei L Anney R Merico D Regan R Conroy J Magalhaes TR Correia C Abrahams BS 2010b Functional impact of global rare copy number variation in autism spectrum disorders Nature PMC3021798 20531469
- Authors
- State, M. W.
- Affiliations
- Yale University (US)
- Corresponding author
- State, Matthew W.
- ORCID
- State, Matthew W.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 68
- Issue
- 2
- Pages
- 254-269
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3292208
- OpenAlex
- W2074029896
- Cited by
- 162
- References
- 162
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 4 · 2023: 2 · 2022: 1 · 2021: 11 · 2020: 4 · 2019: 4 · 2018: 2 · 2017: 9 · 2016: 7 · 2015: 5 · 2014: 14 · 2013: 31 · 2012: 30
- FWCI
- 2.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (RC2MH089956, R01MH092289)
- National Institute of Neurological Disorders and Stroke (R01NS056276)
- 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
- child psychopathology, autism spectrum disorder, Tourette syndrome, genetic architecture, neuropsychiatric disorders, neurodevelopmental disorders, genetic variation, developmental neuroscience
- MeSH terms
- Autistic Disorder, Child, Child Psychiatry, Tourette Syndrome, Humans, Genetic Variation, Genetic Predisposition to Disease, Genome-Wide Association Study
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