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A case-control family history study of autism
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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“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]
In the citing paper
“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]
In the citing paper
“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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“However, it should be noted that the Family History Interview does not include extensive clinical evaluation.”
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The development of young siblings of children with autism from 4 to 54 months
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“Mathematics Disorder : Alarcon et al. 1997 ; Kovas et al. 2007), and most of the PDDs (Autistic Disorder : Folstein & Rutter, 1977 ; Steffenburg et al. 1989 ; Bolton et al. 1994 ; Bailey et al. 1995 ; Rutter, 2005.”
BackgroundSpencer, M. D., Holt, R. J., Chura, L. R., Suckling, J., Calder, A. J., Bullmore, E. T., & Baron-Cohen, S. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.18 · Cited by 92
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A twin study of autism symptoms in Sweden
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Metadata
- Authors
- Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., & Rutter, M.
- Corresponding author
- Bolton, P.
- 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
- 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
- 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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