The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling
Abstract
The authors recently reported, in this journal, an epidemiologic survey of autism in Utah. Twenty (9.7%) of the 207 families ascertained had more than one autistic child. Analyses of these data revealed that autism is 215 times more frequent among the siblings of autistic patients than in the general population. The overall recurrence risk estimate (the chance that each sibling born after an autistic child will develop autism) is 8.6%. If the first autistic child is a male the recurrence risk estimate is 7%, and if a female 14.5%. These new recurrence risk estimates should be made available to all individuals who have autistic children and are interested in family planning.
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Only few earlier studies have had the possibility to calculate the relative recurrence risk.
“Only few earlier studies have had the possibility to calculate the RR8,27,28.”
From The Familial Risk of Autism (2014) · cites this paper as [28]
Two earlier studies presented self-selected samples and limited family data.
“Two studies are presenting self-selected samples8,28 and with limited family data.”
From The Familial Risk of Autism (2014) · cites this paper as [28]
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 [28]
Cites
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“, the frequency of autism in subsequently born siblings) is estimated at 6%–8%, or up to 200 times the risk in the general population (2).”
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“…the risk of recurrence to 554 Developmental Medicine & Child Neurology 2005, 47: 551–555 subsequent female children when the first female child has an ASD, recurrence rates for siblings have been variously calculated as ranging from 4.5 to 14.5% (Ritvo et al. 1989, VeenstraVanderweele et al. 2003).”
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“The sibling recurrence risk (i.e., the probability of developing autism given a person’s sibling is autistic) has been estimated at 2–14% (Jorde et al. 1990; Ritvo et al. 1989; Smalley et al. 1988), a 10- to 20-fold increase over the general population prevalence.”
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“We opted for autistic individuals with an IQ of greater than 70 in this study (ie, high-functioning individuals), although about 65% of autistic individuals are known to have an IQ of less than 70.(55) In addition, approximately 20% to 38% of autistic individuals are reported to have epilepsy.”
MethodEarly speech and language development in children with velocardiofacial syndrome
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“We suggest that this couple’s future recurrence risk is lower than the 25e35% empiric risk figure given to parents who have two children with apparently multifactorial ASD, but cannot more precisely quantify this.(32) 33 Glessner et al(34) recently published a CNV study in which 1995 ASD cases and 2519 controls were s…”
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Iverson, J. M., & Wozniak, R. H. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0339-z · Cited by 322 · see citing works
“Group Patterns of Delay Relative to the general population, those infants with an older sibling already diagnosed with autism are known to be at more than 200 times the risk for an eventual ASD diagnosis themselves (Ritvo et al., 1989; see Zwaigenbaum et al., 2005, for more recent figures).”
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Zwaigenbaum, L., Thurm, A., Stone, W., Baranek, G., Bryson, S., Iverson, J., Kau, A., Klin, A., Lord, C., Landa, R., et al. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0179-x · Cited by 297 · see citing works
“(Ritvo et al., 1989).”
BackgroundInfluentialEarly Screening of Autism Spectrum Disorder: Recommendations for Practice and Research
Zwaigenbaum, L., Bauman, M. L., FEIN, D. A., Pierce, K., Buie, T. M., Davis, P. A., Newschaffer, C. J., Robins, D. L., Wetherby, A. M., Choueiri, R., et al. (2015) · PEDIATRICS · doi:10.1542/peds.2014-3667d · Cited by 309 · see citing works
The Role of Prenatal, Obstetric and Neonatal Factors in the Development of Autism
Dodds, L., Fell, D., Shea, S., Armson, B., Allen, A., & Bryson, S. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-1114-8 · Cited by 286 · see citing works
“The recurrence risk among siblings born after an autistic child has been estimated at 8% (Ritvo et al. 1989).”
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Boyd, B. A., Odom, S. L., Humphreys, B. P., & Sam, A. M. (2010) · Journal of Early Intervention · doi:10.1177/1053815110362690 · Cited by 272 · see citing works
“These wide ranges may reflect methodological differences in the studies as well as a reported elevated recurrence risk when two or more older siblings have ASD in comparison to one older sibling (Ritvo et al., 1989; Zwaigenbaum et al., 2007).”
Rozga, A., Hutman, T., Young, G. S., Rogers, S. J., Ozonoff, S., Dapretto, M., & Sigman, M. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-1051-6 · Cited by 266 · see citing works
“Siblings of children with autism are at heightened risk for developing an autism spectrum disorder (ASD) (Fombonne 2003; Ritvo et al. 1989) and milder difficulties in the domains of social interaction and communication (Bailey et al. 1998; Bolton et al. 1994; Pickles et al. 2000).”
BackgroundSelective Females Affliction in the Developmental Disorders of Childhood: A Literature Review
Eme, R. (1992) · Journal of Clinical Child Psychology · doi:10.1207/s15374424jccp2104_5 · Cited by 250 · see citing works
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Self-citationCytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Reddy, K. S. (2005) · BMC Medical Genetics · doi:10.1186/1471-2350-6-3 · Cited by 222 · see citing works
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Piven, J., Wzorek, M., Landa, R., Lainhart, J., Bolton, P., Chase, G. A., & Folstein, S. (1994) · Psychological Medicine · doi:10.1017/s0033291700027938 · Cited by 210 · see citing works
“Studies have shown an increased prevalence of autism in siblings of autistic individuals (Rutter, 1967; Ritvo et al. 1989) and an increased concordance in monozygotic twins (Folstein & Rutter, 1977; Steffenberg et al.”
BackgroundSex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability
Szatmari, P., Liu, X., Goldberg, J., Zwaigenbaum, L., Paterson, A. D., Woodbury‐Smith, M., Georgiades, S., Duku, E., & Thompson, A. (2012) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31238 · Cited by 187 · see citing works
“This is not an unreasonable assumption and is one often offered as an explanation by several investigators [Tsai and Beisler, 1983; Ritvo et al., 1989; Volkmar et al., 1993].”
ResultAutism spectrum disorder in the genetics clinic: a review
Carter, M., & Scherer, S. W. (2013) · Clinical Genetics · doi:10.1111/cge.12101 · Cited by 173 · see citing works
“Retrospective family studies published prior to the late 1990s estimated the RR for a couple with one autistic child to be 3–10% (60, 61).”
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“Siblings of an affected child have been reported to be at much higher risk for ASDs than the background population, 14–16 although studies 14,16–20 are few, with only 2 being recent studies 16,20 (Table 1).”
Zwaigenbaum, L., Bryson, S. E., Szatmari, P., Brian, J., Smith, I. M., Roberts, W., Vaillancourt, T., & Roncadin, C. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1515-y · Cited by 178 · see citing works
“…the preponderance of males with the diagnosis has remained remarkably consistent at a ratio of 2.5–4:1 (Autism and Developmental Disabilities Monitoring Network 2007; Bryson et al. 1988; Ehlers and Gillberg 1993; Fombonne 2008; Ritvo et al. 1989; Scott et al. 2002; Yeargin-Allsopp et al. 2003).”
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Hertz‐Picciotto, I., Schmidt, R. J., & Krakowiak, P. (2018) · Autism Research · doi:10.1002/aur.1938 · Cited by 192 · see citing works
“…turn of the 21st century, evidence for genetic contributions to ASD comprised high family recurrence, twin concordance, chromosomal abnormalities and some identified candidate genes [Bailey et al., 1995; Folstein & Rutter, 1977b,; Ritvo et al., 1989; Wassink & Piven, 2000; Wassink et al., 2001].”
BackgroundHeritable and Nonheritable Risk Factors for Autism Spectrum Disorders
Newschaffer, C. J. (2002) · Epidemiologic Reviews · doi:10.1093/epirev/mxf010 · Cited by 164 · see citing works
Immunization Safety Review : Vaccines and Autism
(2004) · doi:10.17226/10649 · Cited by 167
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Effective Strategies for the Inclusion of Children With Autism in General Education Classrooms
Crosland, K., & Dunlap, G. (2012) · Behavior Modification · doi:10.1177/0145445512442682 · Cited by 158 · see citing works
“Rates in the United States have increased from less than 3 per 10,000 children in the 1970s to between 34 and 93 children per 10,000 in the 2000s (Manning et al., 2011; Ritvo, 1989; Rutter, 2005).”
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Head Circumference Measurements in Children With Autism
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“Later studies supported the differential concordance rates for MZ and DZ twins (Bailey et al., 1995; Ritvo et al., 1989; Steffenburg et al., 1989).”
ResultPosture Development in Infants at Heightened vs. Low Risk for Autism Spectrum Disorders
Nickel, L. R., Thatcher, A. R., Keller, F., Woźniak, R., & Iverson, J. M. (2013) · Infancy · doi:10.1111/infa.12025 · Cited by 147 · see citing works
“The risk of ASD for these infants is more than 200 times greater than that in the general population (Ritvo et al., 1989), and more recent reports indicate that the recurrence risk is 18.7% (Ozonoff et al., 2011).”
BackgroundInfluentialFamilial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
Risch, N., Hoffmann, T. J., Anderson, M., Croen, L. A., Grether, J. K., & Windham, G. C. (2014) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2014.13101359 · Cited by 144 · see citing works
Early Identification and Interventions for Autism Spectrum Disorder: Executive Summary
Zwaigenbaum, L., Bauman, M. L., Choueiri, R., FEIN, D. A., Kasari, C. L., Pierce, K., Stone, W. L., Yirmiya, N., Estes, A. M., Hansen, R. L., et al. (2015) · PEDIATRICS · doi:10.1542/peds.2014-3667b · Cited by 175 · see citing works
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Symptom domains in autism and related conditions: evidence for familiality.
Silverman, J., Smith, C. J., Schmeidler, J., Hollander, E., Lawlor, B., Fitzgerald, M., Buxbaum, J., Delaney, K., & Galvin, P. (2002) · American journal of medical genetics · doi:10.1002/ajmg.10048 · Cited by 138 · see citing works
Infant siblings and the investigation of autism risk factors
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“For decades, multiple lines of evidence have supported a substantial heritable component of autism etiology, including twin studies [4,11-14], familial risk studies [15-24], segregation analyses [24-27] and reported correlations between autism phenotypes and other congenital genetic disorders [28-32].”
BackgroundInfantile meningitis in England and Wales: a two year study.
de Louvois, J., Blackbourn, J., Hurley, R., & Harvey, D. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.5.603 · Cited by 130 · see citing works
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“Again, as diagnosis rates have increased in the general population, recurrence rates within families have increased as well, with estimates ranging from 3 to 11% in large samples (Bolton et al, 1994; Constantino et al, 2010b; Jorde et al, 1991; Ritvo et al, 1989).”
BackgroundThe UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases.
Ritvo, E., Mason-Brothers, A., Freeman, B., Pingree, C., Jenson, W., Mcmahon, W., Petersen, P. B., Jorde, L., Mo, A., & Ritvo, A. (1990) · American Journal of Psychiatry · doi:10.1176/ajp.147.12.1614 · Cited by 126 · see citing works
Self-citationBrief Report: Early Social Communication Behaviors in the Younger Siblings of Children with Autism
Goldberg, W., Jarvis, K. L., Osann, K., Laulhere, T., Straub, C., Thomas, E., Filipek, P., & Spence, M. A. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-005-0009-6 · Cited by 125 · see citing works
“A greater prevalence of autism spectrum disorders (ASD) has been reported among non-twin siblings than would be expected given rates in the general population (Ritvo et al., 1989; Smalley, 1997).”
Stone, W. L., McMahon, C. R., Yoder, P. J., & Walden, T. A. (2007) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpedi.161.4.384 · Cited by 121 · see citing works
Hochstenbach, R., Buizer‐Voskamp, J. E., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000332928 · Cited by 110 · see citing works
“The recurrence risk in siblings of autistic probands is estimated at up to 8% [Ritvo et al., 1989], at least 25-fold higher than the population risk.”
BackgroundHallmayer, J., Glasson, E., Bower, C., Petterson, B., Croen, L., Grether, J., & Risch, N. (2002) · American Journal of Human Genetics · doi:10.1086/342990 · Cited by 119 · see citing works
“Estimates of the prevalence of autism in the siblings of probands with autism in studies utilizing direct assessment have been 1%–6% (August et al. 1981; Tsai et al. 1981; Baird and August 1985; Ritvo et al. 1989; Gillberg et al. 1992; Szatmari et al. 1993; Bolton et al. 1994).”
BackgroundGenetics of autism: characteristics of affected and unaffected children from 37 multiplex families.
Spiker, D., Lotspeich, L., Kraemer, H., Hallmayer, J., McMahon, W., Petersen, P. B., Nicholas, P., Pingree, C., Wiese-Slater, S., Chiotti, C., et al. (1994) · American journal of medical genetics · doi:10.1002/ajmg.1320540107 · Cited by 119 · see citing works
Self-citationSumi, S., Taniai, H., Miyachi, T., & Tanemura, M. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0392-7 · Cited by 117 · see citing works
Abnormal magnocellular pathway visual processing in infants at risk for autism
McCleery, J. P., Allman, E., Carver, L. J., & Dobkins, K. R. (2007) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.02.009 · Cited by 117 · see citing works
“infants” because their likelihood of developing ASD, "9% (24), is”
BackgroundHow Commonly Are Known Medical Conditions Associated with Autism?
Barton, M., & Volkmar, F. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026052417561 · Cited by 117 · see citing works
Brief Report: Relationship Between Non-verbal IQ and Gender in Autism
Banach, R., Thompson, A., Szatmari, P., Goldberg, J., Tuff, L., Zwaigenbaum, L., & Mahoney, W. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0612-4 · Cited by 116 · see citing works
“The community data from Utah suggest this (7% in relatives of male probands vs. 14.5% in relatives of female probands) but the difference was not significant (Ritvo et al 1989).”
BackgroundInfluentialEarly Infant Development and Intervention for Autism Spectrum Disorder
Sacrey, L.-A. R., Bennett, J., & Zwaigenbaum, L. (2015) · Journal of Child Neurology · doi:10.1177/0883073815601500 · Cited by 109 · see citing works
“One of the first epidemiological studies of recurrence risk in autism spectrum disorder was completed in the 1980s at the University of Utah.17 The recurrence risk was estimated at 8.6%.”
BackgroundInfluentialKolozsi, E., Mackenzie, R. N., Roullet, F. I., Decatanzaro, D., & Foster, J. A. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.07.021 · Cited by 110 · see citing works
The neurobiology of autism spectrum disorders
Parellada, M., Penzol, M. J., Pina‐Camacho, L., Moreno, C., González‐Vioque, E., Zalsman, G., & Arango, C. (2013) · European Psychiatry · doi:10.1016/j.eurpsy.2013.02.005 · Cited by 101 · see citing works
“However, essential autism has a higher recurrence rate (up to 35%) [101].”
The Neurobiology and Genetics of Infantile Autism
Lotspeich, L. J., & Ciaranello, R. D. (1993) · International review of neurobiology · doi:10.1016/s0074-7742(08)60569-3 · Cited by 102 · see citing works
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Self-citationRelationships of whole blood serotonin and plasma norepinephrine within families
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“Evidence of familial relationships in autism has been provided by the increased rate of autism in the siblings of autistic probands relative to the general population (August, Stewart, & Tsai, 1981; Ritvo et al., 1989).”
BackgroundAssociation study with two markers of a human homeogene in infantile autism.
Petit, E., Hérault, J., Martineau, J., Perrot, A., Barthélémy, C., Hameury, L., Sauvage, D., Lelord, G., & Muh, J. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.4.269 · Cited by 102 · see citing works
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“Rates of autism in siblings of those affected are 5–10%, which is 20–50 times higher than the rate of autism in the general population (7,8).”
BackgroundMolecular Cytogenetics of Autism
Xu, J., Zwaigenbaum, L., Szatmari, P., & Scherer, S. (2004) · Current Genomics · doi:10.2174/1389202043349246 · Cited by 95 · see citing works
“Identifying such inherited duplications has important implications for estimation of recurrence risk, which may rise from the empiric risk of 3-9% [10-14] to up to 50% for maternal duplication [66].”
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“…infants were reported up to 20 times higher probability to develop ASD than low-risk infants [Constan-tino et al., 2010; Lauritsen et al., 2005; Ritvo et al., 1989; Spencer et al., 2011] since they presumably carry some of the genes associated with ASD [Abrahams and Geschwind, 2008; Bailey et…”
BackgroundBook Review: Child Psychiatry: The Neurobiology of Autism
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Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations.
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“0 for ischemic stroke [41], 58 for ankylosing spondylitis [11], and 215 for autism [48].”
BackgroundUsing the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders
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Cognitive Deficits in Parents from Multiple‐incidence Autism Families
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BackgroundResultInfluentialThe Neurobiology of Infantile Autism
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“ASD is the most heritable of the common neuropsychiatric conditions with estimates approaching 90% in monozygotic twins, 10% in dizygotic twins, and recurrence risk in siblings 10–100 times the general population [1,2,3,4].”
BackgroundClinical Genetic Aspects of Autism Spectrum Disorders
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“In individuals with more severe impairments the bias is 4–7 times increased [18].”
BackgroundAutism Spectrum Disorders in Young Children
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Genetic and Neurodevelopmental Influences in Autistic Disorder
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Can family affectedness inform infant sibling outcomes of autism spectrum disorders?
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“The present study is not the first to report elevated recurrence or affectedness rates in multiplex families (e.g., Ritvo et al., 1989; Szatmari et al., 2000) but is the first prospective study to report such.”
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“For idiopathic or non-syndromic autism, the empirical risk for siblings to be similarly affected is between 2% and 8% with an average of 4% [28].”
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“The overall recurrence risk is estimated at between 2-8.6% for each sibling born after an autistic child, which is considerably greater than the general population risk (Ritvo et al., 1989; Smalley, Asarnow, & Spence, 1988).”
BackgroundInfluentialAdvances in the early detection of autism
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“diagnosis, the chance of ASD recurrence in future pregnancies increases with the number of affected siblings (Table 1).(7,8) There is evidence for a role of both rare variants and common”
BackgroundFailure to deactivate the default mode network indicates a possible endophenotype of autism
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“Siblings of individuals with autism have a higher risk of developing the condition, with a prevalence that has been estimated to be as high as twenty times greater than in the general population [4-6].”
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Dougherty, J. D., Marrus, N. M., Maloney, S. E., Yip, B. H. K., Sandin, S., Turner, T. N., Selmanovic, D., Kroll, K. L., Gutmann, D. H., Constantino, J. N., et al. (2022) · Neuron · doi:10.1016/j.neuron.2022.06.020 · Cited by 61 · see citing works
“Earlier, smaller studies (N < 300 families) appeared consistent with the Carter effect (Ritvo et al., 1989; Sumi et al., 2006).”
- Authors
- RITVO, E. R., Jorde, L. B., MASON-BROTHERS, A., Freeman, B. J., Pingree, C., Jones, M. B., McMahon, W. M., Petersen, P. B., Jenson, W. R., & Mo, A.
- Affiliations
- University of California, Los Angeles (US)
- ORCID
- Lynn B. Jorde
- Venue
- American Journal of Psychiatry
- Published
- 1989-08-01
- Volume
- 146
- Issue
- 8
- Pages
- 1032-1036
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- OpenAlex
- W12724037
- Cited by
- 255
- References
- 0
- Citations by year
- 2025: 1 · 2024: 1 · 2022: 2 · 2021: 6 · 2020: 3 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 11 · 2015: 10 · 2014: 8 · 2013: 14 · 2012: 20
- FWCI
- 3.52
- 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, recurrence risk, siblings of autistic children, genetic counseling, family planning
- MeSH terms
- Autistic Disorder, Birth Order, Epidemiologic Methods, Family Characteristics, Female, Genetic Counseling, Humans, Intelligence, Male, Religion, Risk Factors, Sex Ratio, Utah
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