The DOI matches its Crossref record; 94 of the 99 references it cites were found in a registry or an index.
Genetics of Autism: Overview and New Directions
Abstract
Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or disorder and uses the methods of both medical genetics and clinical epidemiology. In general, genetic epidemiology tries to answer the following four questions: Is the disorder inherited; What phenotype is inherited; How is it inherited or what is the mode of transmission; and What is the nature of the genetic mutation, if any, that gives rise to the disorder? The hope is that by identifying the gene or genes involved in pathophysiology, a much better understanding of the steps from gene product to phenotype will be possible, leading to improvements in diagnosis, an opportunity for thoughtful family planning, and perhaps, most important, to the development of treatments based on an understanding of the biochemistry of the disorder. We review the current knowledge of the genetic epidemiology of autism and the other pervasive developmental disorders (PDDs) and highlight promising new directions. There seems to be widespread agreement that the PDDs are caused, at least in part, by genetic factors. There is also some agreement on the phenotypic boundaries associated with these same genetic factors. However, many points of uncertainty remain, and several methodologic issues need to be resolved before further progress in mapping susceptibility genes is possible. We do not specifically review molecular studies, medical conditions associated with autism, or the broader autism phenotype, as…
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“Several earlier studies have reported absolute sibling recurrence risk28–34 but absolute risk is a cumulative measure which depends on the length of follow up (higher at age 15 years than at age 5 year) and will differ between populations.”
From The Familial Risk of Autism (2014) · cites this paper as [29]
In the citing paper
“A large body of evidence from twin and family studies supports the important role of genetic factors in the etiology of autism (Bailey et al. 1995;Ritvo et al. 1989;Szatmari et al. 1998).”
From Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice (2004) · cites this paper as Szatmari et al. 1998
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Metadata
- Authors
- Szatmari, P., Jones, M. B., Zwaigenbaum, L., & MacLean, J. E.
- Affiliations
- Pennsylvania State University (US)
- McMaster University Medical Centre (CA)
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 1998-10
- Volume
- 28
- Issue
- 5
- Pages
- 351-368
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- OpenAlex
- W2038674482
- Cited by
- 249
- References
- 99
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 1 · 2022: 2 · 2021: 8 · 2020: 5 · 2019: 3 · 2018: 4 · 2017: 5 · 2016: 4 · 2015: 11 · 2014: 8 · 2013: 2 · 2012: 10
- FWCI
- 1.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- 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, pervasive developmental disorders, genetic epidemiology, heritability, mode of inheritance, susceptibility genes, gene mapping, autism etiology
- MeSH terms
- Autistic Disorder, Child Development Disorders, Pervasive, Female, Humans, Pregnancy, Pregnancy Complications, Genetic Variation
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