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A Twin Study of Heritable and Shared Environmental Contributions to Autism
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The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness Scale. Categorically-defined ASD was based on clinical diagnoses. DeFries-Fulker and liability threshold models examined etiologic influences. Very high heritability was observed for extreme autism symptom levels ([Formula: see text]). Extreme levels of social and repetitive behavior symptoms were strongly influenced by common genetic factors. Heritability of categorically-defined ASD diagnosis was comparatively low (.21, 95 % CI 0.15-0.28). High heritability of extreme autism symptom levels confirms previous observations of strong genetic influences on autism. Future studies will require large, carefully ascertained family pedigrees and quantitative symptom measurements.
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“Autism is considered to be driven genetically [146,147], though only small percentage of cases are clearly linked to genetic causes [22].”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [146]
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“Many studies have evaluated the heritability of ASD (2,8,11,12,15,41), most but not all using twins, and no study has estimated the maternal effect of ASD.”
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“The latter finding most likely represents increased awareness of ASD due to various factors (3) as well as increased exposure to environmental insults that may affect neurodevelopment (5, 6).”
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“These observations are also consistent with more recent studies (Frazier et al., 2014; Lichtenstein et al., 2010) that suggest a stronger clinical and genetic relationship between ASD symptom domains (SCI and RRB) than previously reported (Ronald et al., 2006a; Ronald et al., 2005).”
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“However, confounding this simple explanation, when categorically defined ASD diagnosis is compared directly to quantitatively defined traits, a much higher heritability is found in the latter instance (Frazier et al. 2014).”
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“We also observed a non-significant trend of more females in the group with milder severity, which is unexpected since the male bias in ASD diagnoses tends to be less pronounced in groups with severe ID (Frazier et al., 2014).”
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“Monozygotic twins demonstrate 65–90% concordance for ASD [16,17] with a higher estimate when the BAP is considered [18,19], while dizygotic twin concordance is ~20% [20].”
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“Liability-threshold models have been used in the study of the multi-factorial etiology of ASD (Colvert et al., 2015; Frazier et al., 2014; Robinson et al., 2011; Szatmari et al., 2012; Tick et al., 2016).”
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Development of a GIS-based alert system to mitigate flash flood impacts in Asyut governorate, Egypt
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Syed, S., Moore, K., & March, E. (2017) · Medical Hypotheses · doi:10.1016/j.mehy.2017.09.012 · Cited by 10
Why are there more same-sex than opposite-sex dizygotic twins?
Satoshi Kanazawa, A., Segal, N. L., & de Meza, D. E. (2018) · Human Reproduction · doi:10.1093/humrep/dey046 · Cited by 9
Uyanık, K. Ç. P., Yiğin, A. K., Doğangün, B., & Seven, M. (2021) · Immunological Investigations · doi:10.1080/08820139.2020.1870489 · Cited by 8
“Twin studies showed the importance of genetic factors in the etiology of autism (Folstein and Rutter 1977; Frazier et al. 2014).”
BackgroundSloman, K. N., Fiske, K., & LaRue, R. H. (2018) · Springer eBooks · doi:10.1007/978-3-030-00791-1_14 · Cited by 8
Lins-Silva, D. H., Bandeira, I. D., Faria-Guimarães, D., Dorea-Bandeira, I., Tolentino, A. C., Miranda‐Scippa, Â., Hermens, D. F., & Lucena, R. (2024) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-024-02575-8 · Cited by 8
Urine metabolomic profiles of autism and autistic traits–A twin study
Arora, A., Mastropasqua, F., Bölte, S., & Tammimies, K. (2024) · PLoS ONE · doi:10.1371/journal.pone.0308224 · Cited by 6
“Twin studies are an appropriate tool to investigate the contribution of environmental and genetic factors (Colvert et al., 2015; Frazier et al., 2014) and can be extended to metabolic profiles.”
MethodAlgahtani, M., Ahmad, S. F., Al‐Kharashi, L. A., Al-Harbi, N. O., Alanazi, W. A., Alhamed, A. S., Attia, S. M., Bakheet, S. A., Ibrahim, K. E., & Nadeem, A. (2023) · Toxics · doi:10.3390/toxics11060546 · Cited by 7
“For instance, a study showed that environmental factors account for a 55% probability of having autism spectrum disorder, whereas genetic factors account for only 37% [31].”
BackgroundThe developing visual system: A building block on the path to autism
Girault, J. B. (2025) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2025.101547 · Cited by 7
“…of visual circuitry in HL siblings from 6 to 24 months of age, such that higher levels of autistic traits, indicative of greater genetic burden (Frazier et al., 2014; Nijmeijer et al., 2010; Thomas et al., 2021), were positively correlated with HL-ASD sibling surface area in the middle…”
The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations
Muglia, P., Filosi, M., Ros, L. D., Kam-Thong, T., Nardocci, F., Trabetti, E., Ratti, E., Rizzini, P., Zuddas, A., Bernardina, B. D., et al. (2018) · BMC Psychiatry · doi:10.1186/s12888-018-1937-y · Cited by 8
Sonbol, H. M., Abdelmawgoud, A. S., Elkady, N. M., Elhay, E. S. A., & Twab, H. A. (2025) · Scientific Reports · doi:10.1038/s41598-025-11420-0 · Cited by 7
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan
Perfilyeva, A. V., Беспалова, К., Perfilyeva, Y. V., Skvortsova, L., Musralina, L., Zhunussova, G., Khussainova, E., Iskakova, U., Bekmanov, B., & Djansugurova, L. (2022) · Disease Markers · doi:10.1155/2022/1509994 · Cited by 6
“Some studies steered the debate toward the greater importance of environmental factors rather than a genetic predisposition to ASD [2, 3].”
BackgroundOmelańczuk, I., & Pisula, E. (2020) · Research in Autism · doi:10.1016/j.rasd.2020.101602 · Cited by 6
Autism: genetics, environmental stressors, maternal immune activation, and the male bias in autism
Otaru, S., & Lawrence, D. A. (2022) · Exploration of Neuroprotective Therapy · doi:10.37349/ent.2022.00025 · Cited by 7
An investigation of autistic opinions about autism-related genomic research
Ellis, R., & Asbury, K. (2024) · Neurodiversity · doi:10.1177/27546330241287317 · Cited by 6
Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome
Jesse, S., Kuhlmann, L., Hildebrand, L. S., Magelssen, H., Schmaus, M., Timmermann, B., Andres, S., Fietkau, R., & Distel, L. V. (2023) · Cells · doi:10.3390/cells12050820 · Cited by 5
“Based on twin and family studies, the heritability of autism spectrum disorders is around 40% [3].”
BackgroundAn Investigation of Genetic and Environmental Influences Across the Distribution of Self-Control
Schwartz, J. A., Connolly, E. J., Nedelec, J. L., & Beaver, K. M. (2017) · Criminal Justice and Behavior · doi:10.1177/0093854817709495 · Cited by 7
“The results of modified DeFries–Fulker (DF) equations revealed that genetic and shared environmental influences were distributed in a nonlinear pattern across levels of self-control.”
MethodInfluentialHayretdağ, C., Algedik, P., Ekmekçi, C. G., Bozdagi-Gunal, O., Ağyüz, U., Yıldırım, H., & Coşkunpınar, E. M. (2020) · Gene Reports · doi:10.1016/j.genrep.2020.100618 · Cited by 5
Wegmann, B., Tatemoto, P., Miemczyk, S., Ludvigsson, J., & Guerrero‐Bosagna, C. (2023) · Scientific Reports · doi:10.1038/s41598-023-38780-9 · Cited by 5
Autism Spectrum Disorder: History, Concept and Future Perspective
Lebrun, I., & da Silva, N. I. (2023) · Journal of Neurology Research Review & Reports · doi:10.47363/jnrrr/2023(5)173 · Cited by 7
Libster, N., Harwood, R., Meacham, K., & Kasari, C. L. (2024) · Autism · doi:10.1177/13623613241241577 · Cited by 8
“…autistic women are more likely than autistic men to receive a diagnosis during adulthood (Happé et al., 2016), and autism has genetic associations (Frazier et al., 2014; Hallmayer et al., 2011), many mothers of autistic children may be autistic but remain undiagnosed, or they may not receive a…”
BackgroundBarańczuk, U., Goncikowska, K., Pisula, E., & Pisula, W. (2024) · Health Psychology Report · doi:10.5114/hpr/183105 · Cited by 5
“Some researchers define autistic traits as symptoms exclusive to individuals with neurodevelopmental disabilities (Frazier et al., 2010, 2012, 2014).”
Drinking Water and the Developing Brain.
Silbergeld, E. K. (2016) · PubMed Central · Cited by 4
Radley, K. C., & Dart, E. H. (2021) · Springer series on child and family studies · doi:10.1007/978-3-030-91665-7_1 · Cited by 4
Charman, T., & Chakrabarti, B. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12527 · Cited by 4
Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder
Ho, A., Towheed, A., Luong, S., Zucker, S., & Fethke, E. D. (2022) · Cureus · doi:10.7759/cureus.24813 · Cited by 3
“Social and repetitive behavioral manifestations of ASD are highly influenced by genetic factors [6].”
BackgroundWong, K. X., Chen, S. T., Ong, J. J., Gan, W. Y., Murad, N. A. A., Chong, C. W., & Ramzi, N. H. (2025) · PLoS ONE · doi:10.1371/journal.pone.0338801 · Cited by 2
“Recent research has identified that shared environmental effects can account for up to 50% of the variance in ASD risk in twin studies [5,6].”
Barros, G., & Santos, M. T. B. R. (2014) · Pesquisa Brasileira em Odontopediatria e Clínica Integrada · doi:10.4034/pboci.2014.144.05 · Cited by 2
“Two of these diseases, autism and cerebral palsy, have been the focus of several studies; the first in order to define the etiology to direct the line of treatment to alleviate the symptoms of the disease throughout life, providing better quality of life to this part of the population [15,16].”
Satoshi Kanazawa, A., & Segal, N. L. (2019) · Evolutionary Biology · doi:10.1007/s11692-019-09470-0 · Cited by 2
Autism Spectrum Disorders-A Review on The Preventive Aspects
Barik, S., Patnaik, L., & Pattanaik, S. (2023) · National Journal of Community Medicine · doi:10.55489/njcm.140620232975 · Cited by 4
“10,23,24 Along with this a detailed birth history, parental history, drug history, developmental history, and history of any psychiatric disorders in the family should be taken.”
BackgroundBroad Autism Phenotype and Gait in Parents of Children With and Without Autism Spectrum Disorder
Ganai, U. J., Bhushan, B., & Venkatesh, K. S. (2024) · Annals of Neurosciences · doi:10.1177/09727531241249533 · Cited by 2
Siblings and social interaction development of individuals with ASD: A systematic review
Pan, Q., Bak, M. Y. S., Johnson, L., Bell, L. S., & Dumas, N. G. (2023) · Research in Autism · doi:10.1016/j.rasd.2023.102280 · Cited by 1
McKernan, E. P. (2017) · Syracuse University Libraries (Syracuse University) · Cited by 1
Urine metabolomic profiles of autism and autistic traits – a twin studyPreprint
Arora, A., Mastropasqua, F., Bölte, S., & Tammimies, K. (2023) · medRxiv · doi:10.1101/2023.04.24.23289030 · Cited by 1
Metadata
- Authors
- Frazier, T. W., Thompson, L., Youngstrom, E. A., Law, P., Hardan, A. Y., Eng, C., & Morris, N.
- Affiliations
- Cleveland Clinic (US)
- Case Western Reserve University (US)
- University of North Carolina at Chapel Hill (US)
- Kennedy Krieger Institute (US)
- Stanford University (US)
- Corresponding author
- Frazier, Thomas W.
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 2014-03-07
- Volume
- 44
- Issue
- 8
- Pages
- 2013-2025
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- PMC
- PMC4104233
- OpenAlex
- W2053261697
- Cited by
- 120
- References
- 92
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 8 · 2023: 17 · 2022: 8 · 2021: 9 · 2020: 10 · 2019: 12 · 2018: 10 · 2017: 12 · 2016: 15 · 2015: 6 · 2014: 4
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNC Libraries
- Funders
- Autism Speaks
- Cleveland Clinic
- Case Western Reserve University (UL1RR024989)
- Georgia Clinical and Translational Science Alliance (UL1 RR024989)
- National Institutes of Health (KL2TR000440, RR024989)
- Centers for Disease Control and Prevention
- National Center for Research Resources (RR 024989, UL1RR024989)
- National Center for Advancing Translational Sciences (RR024989)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, heritability, shared environment, twin studies, genetic factors, liability threshold model, Social Communication Questionnaire, Social Responsiveness Scale
- MeSH terms
- Adolescent, Child, Child Development Disorders, Pervasive, Diseases in Twins, Female, Humans, Male, Surveys and Questionnaires, Twins, Dizygotic, Twins, Monozygotic, Genetic Predisposition to Disease, Gene-Environment Interaction
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