Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
Abstract
OBJECTIVE: This study was designed to examine the pattern of familial recurrence of autism spectrum disorder (ASD) in terms of genetic and environmental contributions related to timing of birth. METHOD: The authors linked California Department of Developmental Services records with state birth certificates to identify all siblings and half siblings of individuals affected with ASD born between 1990 and 2003. A total of 6,616 full siblings, 644 maternal half siblings, and 299 paternal half siblings born after ASD index cases were used to calculate recurrence risks. Control families, identified through matching to cases, were included for comparison (a total of 29,384 siblings). RESULTS: The overall sibling recurrence risk was 10.1%, compared with a prevalence of 0.52% in siblings of controls. The recurrence risk in second-born children was higher (11.5%) than in later-born siblings (7.3%); a similar pattern was observed for maternal half siblings (6.5% for second-born compared with 3.0% for later-born siblings; 4.8% overall). The recurrence risk was significantly higher for siblings who immediately followed the index case in birth order compared with those later in birth order. The recurrence risk for paternal half siblings (2.3%) was half the overall recurrence risk for maternal half siblings but was similar to that for later-born maternal half siblings. An exponential effect of short interbirth interval was observed, with the recurrence risk reaching 14.4% for an interbirth interval of 18 months or less, compared with 6.8% for an interval of 4 years or more. An identical phenomenon was observed in maternal half siblings. CONCLUSIONS: The results support genetic susceptibility in the familial recurrence of ASD along with factors related to timing of birth.
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Genetic factors contribute to ASD etiology.
“Genetic factors contribute to the etiology of ASD; twin studies estimate heritability in the 50–90% range, and recurrence in families is ~20%8,9.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [9]
Twin studies estimate ASD heritability at 50-90%.
“twin studies estimate heritability in the 50–90% range”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [9]
ASD recurrence in families is about 20%.
“recurrence in families is ~20%8,9”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [9]
Half siblings sharing the maternal germ line have fourfold greater concordance than those sharing the paternal germ line.
“for example, that there is a fourfold greater concordance in half siblings sharing the maternal rather than paternal germ-line (17).”
From Low load for disruptive mutations in autism genes and their biased transmission (2015) · cites this paper as [17]
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- Authors
- Risch, N., Hoffmann, T. J., Anderson, M., Croen, L. A., Grether, J. K., & Windham, G. C.
- Affiliations
- California Department of Public Health (US)
- Venue
- American Journal of Psychiatry
- Published
- 2014-11-01
- Volume
- 171
- Issue
- 11
- Pages
- 1206-1213
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- OpenAlex
- W2121766620
- Cited by
- 144
- References
- 33
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 12 · 2023: 14 · 2022: 14 · 2021: 10 · 2020: 13 · 2019: 10 · 2018: 14 · 2017: 17 · 2016: 13 · 2015: 17 · 2014: 2
- FWCI
- 9.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of 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 recurrence, recurrence risk, birth order, birth interval, half-siblings, full siblings, genetic susceptibility, environmental factors, birth timing
- MeSH terms
- Adolescent, Birth Certificates, Birth Order, California, Child, Child Development Disorders, Pervasive, Data Collection, Environmental Exposure, Female, Humans, Male, Maternal Behavior, Recurrence, Risk Factors, Prevalence, Logistic Models, Siblings, Young Adult
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