Cited by 1,429Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFamily and Disability Support Research

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

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Ozonoff, Sally, Young, Gregory S., Carter, Alice, Messinger, Daniel, Yirmiya, Nurit, Zwaigenbaum, Lonnie, Bryson, Susan, Carver, Leslie J. +8 more·2011·Pediatrics

Abstract

OBJECTIVE: The recurrence risk of autism spectrum disorders (ASD) is estimated to be between 3% and 10%, but previous research was limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors. This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD. METHODS: A prospective longitudinal study of infants at risk for ASD was conducted by a multisite international network, the Baby Siblings Research Consortium. Infants (n = 664) with an older biological sibling with ASD were followed from early in life to 36 months, when they were classified as having or not having ASD. An ASD classification required surpassing the cutoff of the Autism Diagnostic Observation Schedule and receiving a clinical diagnosis from an expert clinician. RESULTS: A total of 18.7% of the infants developed ASD. Infant gender and the presence of >1 older affected sibling were significant predictors of ASD outcome, and there was an almost threefold increase in risk for male subjects and an additional twofold increase in risk if there was >1 older affected sibling. The age of the infant at study enrollment, the gender and functioning level of the infant's older sibling, and other demographic factors did not predict ASD outcome. CONCLUSIONS: The sibling recurrence rate of ASD is higher than suggested by previous estimates. The size of the current sample and prospective nature of data collection minimized many limitations of previous studies of sibling recurrence. Clinical implications, including genetic counseling, are discussed.

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Crossref · 10.1542/peds.2010-2825

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  • Understanding of onset patterns of ASD has dramatically expanded over the past 10 years through work on infants with a first degree relative with ASD, who due to the high heritability of the condition have a 20% chance of developing ASD themselves.

    “Understanding of onset patterns of ASD has dramatically expanded over the past 10 years, through work on infants with a first degree relative with ASD, who due to the high heritability of the condition have a 20% chance of developing ASD themselves 25”

    From Autism spectrum disorder (2020) · cites this paper as [25]

    Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.

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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 [34]

  • Infants who develop ASD later in childhood have substantially typical profiles of interest in faces and eyes at 6 months of age.

    “For example, infants who develop ASD later in childhood have substantially typical profiles of interest in faces 25 and eyes 26 at 6 months of age”

    From Autism spectrum disorder (2020) · cites this paper as [25]

    The Discussion says behavioral signs and parental concerns about ASD are rare before 6 months, but it does not address infants’ interest in faces or eyes. Searches for face and eye interest at 6 months found no passage establishing the claimed typical profiles. (LLM, conf=0.76)

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  • Many factors (including age at reporting and birth order) affect parent reports of language milestones, earlier social skills, and children's loss of social and language skills.

    “In addition, studies of the accuracy of parent reports of language milestones, earlier social skills, and children's loss of social and language skills suggest that many factors (including age at reporting and birth order) affect these data (Hus et al. 2011, Jones et al. 2014, Ozonoff et al. 2011a).”

    From Recent Advances in Autism Research as Reflected in DSM-5 Criteria for Autism Spectrum Disorder (2015) · cites this paper as Ozonoff et al. 2011a

    The Discussion (page not available) says parent reports of whether older children had ASD can inflate sibling recurrence estimates, while Patients and Methods records birth order as a study variable. Neither passage addresses whether age at reporting or birth order affects parent reports of language milestones, earlier social skills, or loss of skills. Searches for those reports and for parental recall found no passage addressing the claim. (LLM, conf=0.75)

    Experimental — accuracy not yet measured
  • ASD recurrence in families is about 20%.

    “recurrence in families is ~20%8,9”

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Cites

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Research works printed but not linked: 2

  1. Chakrabarti S, Fombonne E. Pervasive de- velopmental disorders in preschool chil- dren. JAMA. 2001;285(24):3093-3099
  2. Zhao X, Leotta A, Kustanovich V, et al. A uni- fied genetic theory for sporadic and inher- ited autism. Proc Natl Acad Sci USA. 2007; 104(31):12831-12836

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Authors
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., Hutman, T., Iverson, J. M., Landa, R., Rogers, S. J., Sigman, M., & Stone, W. L.
Affiliations
  • University of California, Davis (US)
  • University of Massachusetts Boston (US)
  • University of Miami (US)
  • Hebrew University of Jerusalem (IL)
  • University of Alberta (CA)
  • Dalhousie University (CA)
  • University of California San Diego (US)
  • Washington University in St. Louis (US)
  • University of California, Los Angeles (US)
  • University of Pittsburgh (US)
  • Kennedy Krieger Institute (US)
  • University of Washington (US)
Venue
Pediatrics
Published
2011-09-01
Volume
128
Issue
3
Pages
e488-e495
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
OpenAlex
W2133978628
Cited by
1,429
References
48
Citations by year
2026: 25 · 2025: 51 · 2024: 106 · 2023: 68 · 2022: 98 · 2021: 113 · 2020: 143 · 2019: 94 · 2018: 112 · 2017: 116 · 2016: 105 · 2015: 115 · 2014: 95 · 2013: 102 · 2012: 71
FWCI
45.17
Type
journal article
Language
en
Open access
Locations
  • PEDIATRICS (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health
  • Canadian Institutes of Health Research (102665, 62924)
  • National Institute of Mental Health (U54MH066417, R01MH068398, R01MH059630, U54MH068172)
  • National Institute on Deafness and Other Communication Disorders (R01 DC10290, R01DC010290)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD54979, R01HD057284, R01HD047417, R01HD042541, R01HD043292, R01HD052804, R01HD054979)
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, sibling recurrence risk, genetic counseling
MeSH terms
Child Development Disorders, Pervasive, Family Health, Female, Humans, Infant, Male, Recurrence, Linear Models, Siblings

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