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Cited by 1,094Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFamily and Disability Support Research

A case-control family history study of autism

Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., Rutter, M.·1994·Journal of Child Psychology and Psychiatry
DOI 10.1111/j.1469-7610.1994.tb02300.x
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Abstract

Family history data on 99 autistic and 36 Down's syndrome probands are reported. They confirmed a raised familial loading for both autism and more broadly defined pervasive developmental disorders in siblings (2.9% and 2.9%, respectively, vs 0% in the Down's group) and also evidence for the familial aggregation of a lsser'variant of autism, comprising more subtle communication/social impairments or stereotypic behaviours, but not mental retardation alone. Between 12.4 and 20.4% of the autism siblings and 1.6% and 3.2% of the Down's siblings exhibited this lesser variant, depending on the stringency of its definition. Amongst autistic probands with speech, various features of their disorder (increased number of autistic symptoms; reduced verbal and performance ability) as well as a history of obstetric complications, indexed an elevation in familial loading. No such association was seen in the probands without speech, even though familial loading for the lesser variant in this subgroup, was significantly higher than in the Down's controls. The findings suggest that the autism phenotype extends beyond autism as traditionally diagnosed; that aetiology involves several genes; that autism is genetically heterogeneous; and that obstetric abnormalities in autistic subjects may derive from abnormality in the foetus.

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Crossref · 10.1111/j.1469-7610.1994.tb02300.x

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40 of 40 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 [30]

  • First-degree relatives of autistic probands have a markedly higher risk of autism than the general population, consistent with a strong familial or genetic effect.

    “studies in families show that first-degree relatives of autistic probands have a markedly increased risk for autism relative to the population, consistent with a strong familial, or genetic, effect observed in twins [12].”

    From Genetics of autism spectrum disorders (2011) · cites this paper as [12]

  • The recurrence risk rises to 12% to 20% if siblings showing impairment in one or two of the three domains impaired in autism are included.

    “it rises to 12% to 20% if one takes into account the siblings showing impairment in one or two of the three domains impaired in autism respectively”

    From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [5]

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Authors
Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., & Rutter, M.
Corresponding author
Bolton, P.
ORCID
Venue
Journal of Child Psychology and Psychiatry
Publisher
Wiley
Published
1994-07
Volume
35
Issue
5
Pages
877-900
ISSN
  • 0021-9630 (ISSN-L)
  • 1469-7610
DOI
10.1111/j.1469-7610.1994.tb02300.x
OpenAlex
W2142343384
Cited by
1,094
References
40
Citations by year
2026: 11 · 2025: 14 · 2024: 14 · 2023: 22 · 2022: 29 · 2021: 35 · 2020: 19 · 2019: 22 · 2018: 29 · 2017: 33 · 2016: 35 · 2015: 55 · 2014: 50 · 2013: 42 · 2012: 50
FWCI
11.26
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4542 d)
Locations
  • Journal of Child Psychology and Psychiatry (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
autism spectrum disorder, familial aggregation, pervasive developmental disorders, Down syndrome, siblings, stereotypy, communication disorders, pregnancy complications, genetic heterogeneity, autism phenotype, speech disorders, genetic aetiology
MeSH terms
Congenital Abnormalities, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Down Syndrome, Female, Humans, Intelligence, Male, Models, Genetic, Personality Assessment, Phenotype, Risk Factors, Case-Control Studies

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