The DOI matches its Crossref record; 180 of the 183 references it cites were found in a registry or an index.
Autism Spectrum Disorders and Epigenetics
Abstract
Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD.Method In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD.Results Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation.Conclusion Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.
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“the critical period could be during fetal development [as suggested by in utero exposure to valproate; (164)] but also during early-postnatal development [as suggested by studies in animal models concerning the first weeks of postnatal life (157)].”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [164]
In the citing paper
“In humans epigenetic mechanisms implicated in ASD may be a key mechanism through which valproate influences neurodevelopment [34–37].”
From The contribution of environmental exposure to the etiology of autism spectrum disorder (2019) · cites this paper as [34]
In the citing paper
“Several genetic disorders with high penetrance of ASD, including Rett, Fragile-X, Prader-Willi, and Angelman syndromes, result from alterations in genes involved in epigenetic modifications.”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [151]
In the citing paper
“For example, Rett syndrome is associated with mutations in the MECP2 [ 150 , 151 ].”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [151]
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Metadata
- Authors
- Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R.
- Affiliations
- Hospital for Sick Children (CA)
- Corresponding author
- Weksberg, Rosanna
- Venue
- Journal of the American Academy of Child & Adolescent Psychiatry
- Publisher
- Elsevier BV
- Published
- 2010-08
- Volume
- 49
- Issue
- 8
- Pages
- 794-809
- ISSN
- 0890-8567 (ISSN-L)
- OpenAlex
- W1986743339
- Cited by
- 235
- References
- 183
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 11 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 11 · 2019: 9 · 2018: 8 · 2017: 16 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 27 · 2012: 22
- FWCI
- 1.84
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- Canadian Institutes of Health Research
- 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 › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- autism spectrum disorder, epigenetics, epigenetic dysregulation, ASD etiology, brain development, Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, CHARGE syndrome, environmental factors, gene expression regulation
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Chromosomes, Human, Pair 15, Fragile X Syndrome, Humans, Prader-Willi Syndrome, Risk Factors, Social Environment, Turner Syndrome, Rett Syndrome, Comorbidity, Angelman Syndrome, Genetic Predisposition to Disease, Epigenesis, Genetic, Genetic Association Studies, Megalencephaly, CHARGE Syndrome
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