The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study
Open accessAbstract
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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In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“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
Experimental — accuracy not yet measuredIn the citing paper
“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 [8]
In the citing paper
“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 [8]
In the citing paper
“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 [8]
In the citing paper
“Infant siblings of children with ASD have a nearly 20% chance of developing ASD [2]”
From EEG power at 3 months in infants at high familial risk for autism (2017) · cites this paper as [2]
In the citing paper
“Since infants with an older sibling with ASD have close to a 20 % risk of developing ASD themselves [7], researchers can examine the neural and cognitive precursors to symptom emergence by following a cohort of “infant siblings” from early infancy to early childhood.”
In the citing paper
“A recent report4 from the Baby Siblings Research Consortium (BSRC) indicated that 18.7% of 3-year-old HR siblings will themselves develop an ASD.”
From Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age (2013) · cites this paper as [4]
In the citing paper
“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 [4]
In the citing paper
“The recurrence rate of ASD in siblings is 18.7% (Ozonoff et al ., 2011), a nearly 20-fold greater risk than in the general population.”
From Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder (2013) · cites this paper as Ozonoff et al., 2011
In the citing paper
“Around 20% of younger siblings are diagnosed with autism themselves [8]”
From Enhanced Visual Search in Infancy Predicts Emerging Autism Symptoms (2015) · cites this paper as [8]
In the citing paper
“Around 20% of high-risk infants receive an autism diagnosis by their third birthday (Ozonoff et al., 2011).”
From From early markers to neuro-developmental mechanisms of autism (2014) · cites this paper as Ozonoff et al., 2011
In the citing paper
“Studies of younger siblings of children with autism are motivated by the twentyfold increase in autism incidence in these groups with respect to the general population (Baird, Simonoff, Pickles, Chandler, & Loucas, 2006; Ozonoff, Young, Carter, & Messinger, 2011), making prospective studies feasible (Zwaigenbaum et al., 2007).”
From From early markers to neuro-developmental mechanisms of autism (2014) · cites this paper as Ozonoff, Young, Carter, & Messinger, 2011
In the citing paper
“but no effect of proband sex on this recurrence risk”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [34]
In the citing paper
“recurrence rate in siblings is 26.2% for males and 9.1% for females, regardless of the sex of their older autistic sibling”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [34]
In the citing paper
“Prospective study finds a recurrence risk of 18.7% for siblings of autistic probands”
From Sex differences in autism spectrum disorders (2013) · cites this paper as [34]
In the citing paper
“Current research indicates that ASD recurrence risk for siblings of children with ASD is as high as 18.7 % [38], with population-based estimates around 10 % [44].”
From Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life (2015) · cites this paper as [38]
In the citing paper
“It is worth noting that the recurrence rate reported in the current study (32.1%) is higher than that reported in the large consortium paper published by Ozonoff and colleagues (18.7%; Ozonoff et al., 2011).”
From Behavioural markers for autism in infancy: Scores on the Autism Observational Scale for Infants in a prospective study of at-risk siblings (2015) · cites this paper as Ozonoff et al., 2011
In the citing paper
“A previous report from the Baby Siblings Research Consortium (BSRC) utilizing slightly more than half (664) of the current sample of 1241 high-risk infants yielded an 18.7 % risk of ASD recurrence, which was elevated among males and among siblings from multiplex families [10].”
From Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study (2015) · cites this paper as [10]
In the citing paper
“Variable male:female ratios in prospectively followed high-risk sibling samples (2.8:1 [10] and 1.65:1 [11])”
From Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study (2015) · cites this paper as [10]
In the citing paper
“The 3.18:1 increased odds of ASD in males in the current sample (95 % CI = 2.31 to 4.39) is similar to estimates from community-based ascertainment of children (2.5:1–2.6:1) [5–7], as well as to a previous report on approximately half of the current high-risk sample [10].”
From Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study (2015) · cites this paper as [10]
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Citations
Cites
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Self-citationAutism as a strongly genetic disorder: evidence from a British twin study
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A Prospective Study of the Emergence of Early Behavioral Signs of Autism
Ozonoff, S., Iosif, A.-M., Baguio, F., Cook, I. C., Hill, M. M., Hutman, T., Rogers, S. J., Rozga, A., Sangha, S., Sigman, M., et al. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2009.11.009 · Cited by 1,011
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Subramanyam, A., Mukherjee, A., Dave, M., & Chavda, K. (2019) · Indian Journal of Psychiatry · doi:10.4103/psychiatry.indianjpsychiatry_542_18 · Cited by 59
Risk and resilience in autism spectrum disorder: a missed translational opportunity?
Szatmari, P. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13588 · Cited by 56
Yip, B. H. K., Bai, D., Mahjani, B., Klei, L., Pawitan, Y., Hultman, C. M., Grice, D. E., Roeder, K., Buxbaum, J. D., Devlin, B., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.09.007 · Cited by 46
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Seery, A., Tager-Flusberg, H., & Nelson, C. A. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-43 · Cited by 41
Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations
Frazier, T. W. (2019) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a037002 · Cited by 37
Learning delays in a mouse model of autism spectrum disorder
Rendall, A. R., Truong, D. T., & Fitch, R. H. (2016) · Behavioural Brain Research · doi:10.1016/j.bbr.2016.02.006 · Cited by 34
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Self-citationChromatin regulators, phenotypic robustness, and autism risk
Suliman, R., Ben-David, E., & Shifman, S. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00081 · Cited by 28
Shortened telomeres in families with a propensity to autism
Nelson, C. A., Varcin, K. J., Coman, N. K., DeVivo, I., & Tager-Flusberg, H. (2015) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2015.04.006 · Cited by 27
Zachor, D. A., & Ben‐Itzchak, E. (2020) · Autism Research · doi:10.1002/aur.2313 · Cited by 28
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The Genetics of Autism Spectrum Disorders
Yuen, R. K. C., Szatmari, P., & Vorstman, J. A. S. (2019) · Autism and Pervasive Developmental Disorders · doi:10.1017/9781108297769.006 · Cited by 19
Quo Vadis clinical genomics of ASD?
Tammimies, K., Falck-Ytter, T., & Bölte, S. (2016) · Autism · doi:10.1177/1362361316635798 · Cited by 5
Metadata
- 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)
- ORCID
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2011-09-01
- Volume
- 128
- Issue
- 3
- Pages
- e488-e495
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- PMC
- PMC3164092
- OpenAlex
- W2133978628
- Cited by
- 1,429
- References
- 47
- 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
- bronze
- doi.org
- 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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