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Cited by 251Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

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

Szatmari, P., Jones, M. B., Zwaigenbaum, L., MacLean, J. E.·1998·Journal of Autism and Developmental Disorders
DOI 10.1023/a:1026096203946
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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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Research works printed but not linked: 6

  1. Bolton, P., & Holland, A. (1994). Chromosomal abnormalities. In M. Rutter, E. Taylor, & L. Hersov (Eds.), Child and adolescent psychiatry: modern approaches (3rd ed., pp. 152–171). Oxford, England: Blackwell.
  2. Faraone, S. V., & Tsuang, M. T. (1995). Methods in Psychiatric Genetics. In M.T. Tsuang, M. Tohen, & G. E. P. Zahner (Eds.), Textbook in Psychiatric Epidemiology, (pp. 81–134). New York: Wiley Liss.
  3. Fombonne, E. (1997). Epidemiological surveys of autism. To appear in F. Volkmar (Eds.), C.U.P. Monograph on Autism.
  4. Prechtl, H. (1967). Neurological findings in newborn infants after pre-and perinatal complications. In J. Jonxis, H. Vesses, & J. Troelstra (Eds.), Aspects of prematurity and dysmaturity (pp. 305–321). Springfield, IL: Stenfert Kroese.
  5. Robinson, P. D. (1996). Biology. Genetics of autism: The maternal genotype at the dopamine beta hydroxylase locus may be a factor in the etiology of autism and related pervasive developmental disorders. Hamilton, Ontario. McMaster University Department of Biology.
  6. World Health Organization. (1992). InternationaL classification of diseases, 10th ed. Draft of Chapter 5: Categories F00-F99, mental, behavioral developmental disorders. Geneva: Author.

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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)
ORCID
Venue
Journal of Autism and Developmental Disorders
Publisher
Springer Science and Business Media LLC
Published
1998-10
Volume
28
Issue
5
Pages
351-368
ISSN
  • 0162-3257 (ISSN-L)
  • 1573-3432
DOI
10.1023/a:1026096203946
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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