Cited by 255Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersFamily and Disability Support Research

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The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling

EDWARD R. RITVO, Lynn B. Jorde, ANNE MASON-BROTHERS, B. J. Freeman, Carmen Pingree, M B Jones, William M. McMahon, P. Brent Petersen, William R. Jenson, A Mo·1989·American Journal of Psychiatry

DOI 10.1176/ajp.146.8.1032

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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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Concordance for the syndrome of autism in 40 pairs of afflicted twins
(1985) · American Journal of Psychiatry · doi:10.1176/ajp.142.1.74 · Cited by 378
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Method
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Method
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“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).”
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Background
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Self-citation
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Background
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Background
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BackgroundResultInfluential
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Background
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Background
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Result
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“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).”
BackgroundInfluential
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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
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Background
Infantile 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
Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments
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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).”
Background
The 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
Self-citation
Brief Report: Early Social Communication Behaviors in the Younger Siblings of Children with Autism
Goldberg, W. A., Jarvis, K. L., Osann, K., Laulhere, T. M., Straub, C., Thomas, E., Filipek, P. A., & Spence, M. A. (2005) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-005-0009-6 · Cited by 126
“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).”
Early social-communicative and cognitive development of younger siblings of children with autism spectrum disorders
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
Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research
Hochstenbach, R., Buizer‐Voskamp, J. E., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000332928 · Cited by 114
“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.”
Background
On the Twin Risk in Autism
Hallmayer, J. F., Glasson, E. J., Bower, C. I., Petterson, B., Croen, L., Grether, J. K., & RISCH, N. J. (2002) · The American Journal of Human Genetics · doi:10.1086/342990 · Cited by 100
“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).”
Background
Genetics of autism: Characteristics of affected and unaffected children from 37 multiplex families
Spiker, D., Lotspeich, L. J., KRAEMER, H. C., Hallmayer, J. F., 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 115
Self-citation
Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
Sumi, S., Taniai, H., Miyachi, T., & Tanemura, M. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0392-7 · Cited by 117
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
“infants” because their likelihood of developing ASD, "9% (24), is”
Background
How Commonly Are Known Medical Conditions Associated with Autism?
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Brief Report: Relationship Between Non-verbal IQ and Gender in Autism
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“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).”
BackgroundInfluential
Early Infant Development and Intervention for Autism Spectrum Disorder
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“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%.”
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Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in mice
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“However, essential autism has a higher recurrence rate (up to 35%) [101].”
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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).”
Background
Molecular Cytogenetics of Autism
Xu, J., Zwaigenbaum, L., Szatmari, P., & Scherer, S. (2004) · Current Genomics · doi:10.2174/1389202043349246 · Cited by 95
“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].”
Background
A novel functional brain imaging endophenotype of autism: the neural response to facial expression of emotion
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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…”
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Book Review: Child Psychiatry: The Neurobiology of Autism
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“0 for ischemic stroke [41], 58 for ankylosing spondylitis [11], and 215 for autism [48].”
Background
Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders
Merikangas, A. K., & Almasy, L. (2020) · Genes, Brain and Behavior · doi:10.1111/gbb.12660 · Cited by 82
Cognitive Deficits in Parents from Multiple‐incidence Autism Families
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Perinatal Exposure to Traffic-Related Air Pollution and Autism Spectrum Disorders
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The 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].”
Background
Clinical Genetic Aspects of Autism Spectrum Disorders
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“In individuals with more severe impairments the bias is 4–7 times increased [18].”
Background
Autism Spectrum Disorders in Young Children
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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.”
Background
High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders
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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).”
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Advances in the early detection of autism
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Failure 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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Further evidence that some male‐based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations
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Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?
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 73
“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
Publisher: American Psychiatric Association Publishing
Published: 1989-08-01
Volume: 146
Issue: 8
Pages: 1032-1036
ISSN: 0002-953X (ISSN-L)
1535-7228
DOI: 10.1176/ajp.146.8.1032
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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The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling

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