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Cited by 117Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFamily and Disability Support Research

Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan

Sumi, Satoshi, Taniai, Hiroko, Miyachi, Taishi, Tanemura, Mitsuyo·2006·Journal of Human Genetics
DOI 10.1007/s10038-006-0392-7
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Abstract

Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region was 2.1%. Both of these rates are higher than those reported previously, probably because of the expanded clinical criteria applied. The prevalence in males of the general population was 3.3% and that in females was 0.82%. The sibling incidences were 7.7 and 20.0% for families in which the probands were male and female, respectively. Because the reversed sex ratios correspond to the general rule for a multifactorial threshold model, we suggest that most PDD cases result from the cumulative effects of multiple factors (mostly genetic). The sibling incidences were 0 and 10.9% for families in which the proband had low and normal birth-weight, respectively, suggesting the risk is lower in families with low-birth-weight probands.

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Crossref · 10.1007/s10038-006-0392-7

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27 of 27 references verified0 citation errors · 0 not checkable

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  • Several earlier studies have reported absolute sibling recurrence risk, but absolute risk is a cumulative measure that depends on length of follow-up and differs between populations.

    “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 [32]

  • Boys exhibited higher autism spectrum disorder severity scores than girls at 3 years independent of risk group.

    “Independent of risk group, boys exhibited higher ASD severity scores than girls at 3 years, which extends similar findings based on parent report19 and parallels the higher rate of ASD diagnosis among boys in epidemiologic and prospective high-risk samples.4,35”

    From Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age (2013) · cites this paper as [35]

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Authors
Sumi, S., Taniai, H., Miyachi, T., & Tanemura, M.
Affiliations
  • Nagoya City University (JP)
  • Nagoya City University Hospital (JP)
Corresponding author
Sumi, Satoshi
ORCID
Miyachi, Taishi
Venue
Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2006-03-25
Volume
51
Issue
6
Pages
518-522
ISSN
  • 1434-5161 (ISSN-L)
  • 1435-232X
DOI
10.1007/s10038-006-0392-7
OpenAlex
W2017465782
Cited by
117
References
27
Citations by year
2024: 1 · 2023: 2 · 2022: 24 · 2021: 2 · 2020: 5 · 2019: 5 · 2018: 6 · 2017: 8 · 2016: 10 · 2015: 10 · 2014: 10 · 2013: 4 · 2012: 8
FWCI
1.61
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Journal of Human Genetics (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
  • Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
Keywords
pervasive developmental disorders, autism spectrum disorder, sibling risk, recurrence risk, genetic factors, sex ratio, multifactorial threshold model, birth weight, prevalence, Japanese family
MeSH terms
Birth Order, Birth Weight, Child Development Disorders, Pervasive, Child, Preschool, Data Collection, Female, Humans, Infant, Japan, Male, Models, Genetic, Risk Factors, Sex Ratio, Cohort Studies, Siblings, Chromosomes, Human, X

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