A twin study of heritable and shared environmental contributions to autism
Open accessAbstract
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.
“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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Self-citationAn analysis of the genetics of schizophrenia
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“For example, it has been noted that fitting a model which assumes an underlying major gene effect to the data may yield entirely different results than the standard model, which assumes multivariate normality (Kidd and Cavalli-Sforza 1973).”
The ‘singles’ method for segregation analysis under incomplete ascertainment
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The Genetic and Environmental Origins of Language Disability and Ability
Spinath, F. M., Price, T. S., Dale, P. S., & Plomin, R. J. (2004) · Child Development · doi:10.1111/j.1467-8624.2004.00685.x · Cited by 85 · cited 2× · see citing works
“2010), and a population study of language ability reported greater heritability for impaired language levels (Spinath et al. 2004).”
Independent and dependent contributions of advanced maternal and paternal ages to autism risk
Shelton, J. F., Tancredi, D. J., & Hertz‐Picciotto, I. (2010) · Autism Research · doi:10.1002/aur.135 · Cited by 85 · see citing works
Comorbidity of Mathematics and Reading Deficits: Evidence for a Genetic Etiology
Knopik, V. S., Alarcón, M., & DeFries, J. C. (1997) · Behavior Genetics · doi:10.1023/a:1025622400239 · Cited by 75 · cited 1× · see citing works
“Bivariate and group heritability estimates were used to compute genetic correlations following Knopik et al. (1997).”
Multiple regression analysis of twin data: A model-fitting approach
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Assisted reproductive technology and risk for autism spectrum disorder
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Defining Autism Subgroups: A Taxometric Solution
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“The categorical model has gained momentum from strong diagnostic stability across childhood (Chawarska et al. 2009; Lord et al. 2006; Moss et al. 2008) and empirically-driven symptom structure studies (Frazier et al. 2010, 2012; Ingram et al. 2008).”
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A Model-Fitting Implementation of the DeFries-Fulker Model for Selected Twin Data
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Parental Occupational Exposures and Autism Spectrum Disorder
McCanlies, E. C., Fekedulegn, D. B., Mnatsakanova, A., Burchfiel, C. M., Sanderson, W. T., Charles, L. E., & Hertz‐Picciotto, I. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1468-1 · Cited by 48 · see citing works
How meaningful are heritability estimates of liability?
Benchek, P., & Morris, N. J. (2013) · Human Genetics · doi:10.1007/s00439-013-1334-z · Cited by 31 · cited 1× · see citing works
“Similarly, it has been shown that numerous realistic scenarios for the distribution of the underlying liability can lead to large asymptotic biases, while small samples sizes may be biased even if the model assumptions are met (Benchek and Morris 2013).”
Self-citationGenetic Variance for Autism Screening Items in an Unselected Sample of Toddler-Age Twins
Stilp, R. L. H., Gernsbacher, M. A., Schweigert, E. K., Arneson, C. L., & Goldsmith, H. H. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2009.11.012 · Cited by 29 · cited 5× · see citing works
“The categorical view of ASD has been supported by recent empirical investigations of autism symptoms (Frazier et al. 2010, 2012) and a population study of toddler twin pairs that found higher heritability for a more extreme threshold (Stilp et al. 2010).”
InfluentialHow Continua Converge in Nature: Cognition, Social Competence, and Autistic Syndromes
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Heritability Across the Distribution: An Application of Quantile Regression
Logan, J. A. R., Petrill, S., Hart, S., Schatschneider, C., Thompson, L., Deater-Deckard, K., DeThorne, L., & Bartlett, C. W. (2011) · Behavior Genetics · doi:10.1007/s10519-011-9497-7 · Cited by 24 · see citing works
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Robertson, C. E., & Baron-Cohen, S. (2017) · Nature Reviews Neuroscience · doi:10.1038/nrn.2017.112 · Cited by 1,157 · see citing works
Heritability of autism spectrum disorders: a meta-analysis of twin studies
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“However, two recent twin studies do not support this and instead re-affirm strong genetic effects on the liability to ASD, a finding consistent with previous reports.”
BackgroundMethodInfluentialHeritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S. R., Woodhouse, E., Gillan, N., Hallett, V., Lietz, S., Garnett, T., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.3028 · Cited by 560 · see citing works
“explaining 58-78% of the variance in liability to autism spectrum disorder (ASD) [15, 16].”
BackgroundMaternal hospitalization with infection during pregnancy and risk of autism spectrum disorders
Lee, B. K., Magnusson, C., Gardner, R. M., Blomström, Å., Newschaffer, C. J., Burstyn, I., Karlsson, H., & Dalman, C. (2015) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2014.09.001 · Cited by 337 · see citing works
“Moreover, as different subtypes of ASDmay have different environmental components (Frazier et al., 2014), it is important to examine whether prenatal infection differentially influences ASD subtype risk (with or without intellectual disability).”
BackgroundMandy, W., & Lai, M. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12501 · Cited by 283 · see citing works
Etiology of Autism Spectrum Disorders and Autistic Traits Over Time
Taylor, M. J., Rosenqvist, M. A., Larsson, H., Gillberg, C., D'Onofrio, B. M., Lichtenstein, P., & Lundström, S. (2020) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2020.0680 · Cited by 198 · see citing works
Thapar, A., & Rutter, M. L. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04685-z · Cited by 174 · see citing works
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121 · see citing works
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1
Morris, S. M., Acosta, M. T., Garg, S., Green, J., Huson, S., Legius, E., North, K. N., Payne, J. M., Plasschaert, E., Frazier, T. W., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.2600 · Cited by 122 · see citing works
Self-citationVitamin D and Autism Spectrum Disorder: A Literature Review
Mazahery, H., Camargo, C., Conlon, C., Beck, K., Kruger, M., & Von Hurst, P. (2016) · Nutrients · doi:10.3390/nu8040236 · Cited by 110 · see citing works
“Autism is considered to be driven genetically [146,147], though only small percentage of cases are clearly linked to genetic causes [22].”
BackgroundRecurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study
Hansen, S. N., Schendel, D., Francis, R. W., Windham, G. C., Bresnahan, M. A., Levine, S. Z., Reichenberg, A., Gissler, M., Kodesh, A., Bai, D., et al. (2019) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2018.11.017 · Cited by 108 · see citing works
Alterations in GABAA-Receptor Trafficking and Synaptic Dysfunction in Brain Disorders
Mele, M., Costa, R. O., & Duarte, C. B. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00077 · Cited by 106 · see citing works
Multiple neurological effects associated with exposure to organophosphorus pesticides in man
Jokanović, M., Olekšák, P., & Kuča, K. (2022) · Toxicology · doi:10.1016/j.tox.2022.153407 · Cited by 94 · see citing works
Potential Therapeutic Use of the Ketogenic Diet in Autism Spectrum Disorders
Napoli, E., Dueñas, N., & Giulivi, C. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00069 · Cited by 88 · see citing works
Heritable aspects of biological motion perception and its covariation with autistic traits
Wang, Y., Wang, L., Xu, Q., Liu, D., Chen, L., Troje, N. F., He, S., & Jiang, Y. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1714655115 · Cited by 88 · see citing works
“Moreover, as there are still controversies regarding the etiologic consistency of autistic traits across severity levels (45, 64) and the potential influences of experimental manipulations on BM perception performance (7), it would be of great value to examine autistic traits along the full spectrum from normal to ext…”
BackgroundCastelbaum, L., Sylvester, C. M., Zhang, Y., Yu, Q., & Constantino, J. N. (2019) · Behavior Genetics · doi:10.1007/s10519-019-09987-2 · Cited by 90 · see citing works
Drug development for Autism Spectrum Disorder (ASD): Progress, challenges, and future directions
McCracken, J. T., Anagnostou, E. A., Arango, C., Dawson, G., Farchione, T. R., Mantua, V., McPartland, J. C., Murphy, D., Pandina, G., & Veenstra-VanderWeele, J. M. (2021) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2021.05.010 · Cited by 87 · see citing works
“Measures of basic language skill acquisition and functional usage (age of phrase speech, Vineland Communication scores, ADI-R items, ADOS subscale scores, natural language samples, SRS items) emerge as separable from social interaction quality (relatedness, social interest and approach) in multiple studies, showing di…”
BackgroundPleiotropic Mechanisms Indicated for Sex Differences in Autism
Mitra, I., Tsang, K. M., Ladd‐Acosta, C., Croen, L., Aldinger, K. A., Hendren, R. L., Traglia, M., Lavillaureix, A., Zaitlen, N., Oldham, M. C., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006425 · Cited by 78 · see citing works
“Estimates of heritability for idiopathic ASDs range between 38% and 90%, and autism-related traits in the general population are similarly heritable[2–9].”
Beversdorf, D. Q., & MISSOURI AUTISM SUMMIT CONSORTIUM* (2016) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000000351 · Cited by 74 · see citing works
Wong, C. T., Wais, J., & Crawford, D. A. (2015) · European Journal of Neuroscience · doi:10.1111/ejn.13028 · Cited by 74 · see citing works
“There is sufficient research from twin and family studies demon- strating the involvement of genes in ASDs (Guo et al., 2011; Frazier et al., 2014).”
BackgroundNakagawa, Y., & Chiba, K. (2016) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.116.234476 · Cited by 72 · see citing works
“siderable debate in etiology of ASD, the genetic basis of this disorder is supported by several twin studies (Rosenberg et al., 2009; Frazier et al., 2014).”
ResultYin, J., & Schaaf, C. P. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4942 · Cited by 68 · see citing works
Environmental Chemicals and Autism: A Scoping Review of the Human and Animal Research
Pelch, K. E., Bolden, A. L., & Kwiatkowski, C. F. (2019) · Environmental Health Perspectives · doi:10.1289/ehp4386 · Cited by 65 · see citing works
“Growing evidence suggests environmental factors and gene–environment interactions contribute to the etiology of the disorder (Frazier et al. 2014; Hallmayer et al. 2011).”
BackgroundBauman, M. D., & de Water, J. V. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104864 · Cited by 64 · see citing works
“Moreover, the association between maternal infection and ASD risk is likely complicated by additional genetic and environmental risk factors, which may be associated with different ASD subtypes (Frazier et al., 2014; Szatmari et al., 2007).”
BackgroundOhja, K., Gozal, E., Fahnestock, M. L., Cai, L., Cai, J., Freedman, J. H., Switala, A., El-Baz, A. S., & Barnes, G. N. (2018) · NeuroMolecular Medicine · doi:10.1007/s12017-018-8488-8 · Cited by 65 · see citing works
“Genetic evidence for ASD is strongly supported by the 3–19% recurrence risk in families with a 60–90% overlap of the rate of diagnosis in monozygotic twins, and a 10–30% overlap in same-sex dizygotic twins (Bailey et al. 1995; Colvert et al. 2015; Frazier et al. 2014; Hallmayer et al. 2011).”
BackgroundWang, H., & Avillach, P. (2021) · JMIR Medical Informatics · doi:10.2196/24754 · Cited by 57 · see citing works
“Although the causes of ASD remain unknown, recent studies have found that ASDs are 80% reliant on the inherited genes [1-3].”
RetractedYip, 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 · see citing works
“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.”
Pesquisa Brasileira em Odontopediatria e Clínica Integrada
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Infant Visual Brain Development and Inherited Genetic Liability in Autism
Girault, J. B., Donovan, K., Hawks, Z., Talović, M., Forsen, E., Elison, J. T., Shen, M. D., Swanson, M. R., Wolff, J. J., Kim, S. H., et al. (2022) · American Journal of Psychiatry · doi:10.1176/appi.ajp.21101002 · Cited by 47 · see citing works
Kawa, R., Sæmundsen, E., Jonsdottir, S. L., Hellendoorn, A., Lemcke, S., Canal‐Bedia, R., Primo, P. G., & Moilanen, I. K. (2016) · European Journal of Public Health · doi:10.1093/eurpub/ckw206 · Cited by 51 · see citing works
Autism-Related Variation in Reciprocal Social Behavior: A Longitudinal Study
Wagner, R. E., Zhang, Y., Gray, T., Abbacchi, A. M., Cormier, D., Todorov, A. A., & Constantino, J. N. (2018) · Child Development · doi:10.1111/cdev.13170 · Cited by 51 · see citing works
“…with those underlying subclinical autistic traits; (b) confirmatory factor analyses of SRS ratings exhibit measurement invariance across ages (Frazier et al., 2014); and (c) the very high monozygotic twin correlation for SRS scores in unaffected individuals (~.80, Constantino & Todd, 2003)…”
BackgroundSingh, R., Kisku, A., Kungumaraj, H. J., Nagaraj, V., Pal, A., Kumar, S., & Sulakhiya, K. (2023) · Biomedicines · doi:10.3390/biomedicines11010115 · Cited by 45 · see citing works
“One other conclusion from the twin study highlights the importance of the prenatal environment in the development of the fetus [30].”
BackgroundYang, G., & Shcheglovitov, A. (2019) · Developmental Dynamics · doi:10.1002/dvdy.100 · Cited by 44 · see citing works
“This view, however, has been challenged in more recent studies that estimated genetics to be responsible for 21%-38% and nongenetic in-utero (environmental) factors for 58%-78% of the liability.(6,7) The most current view is that ASD is a predominantly genetic disorder with an estimated heritability of 74%-84%,(8,9) t…”
BackgroundMitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis
Aoki, Y. Y., & Cortese, S. (2015) · Molecular Neurobiology · doi:10.1007/s12035-015-9116-3 · Cited by 42 · see citing works
Role of environmental factors and epigenetics in autism spectrum disorders
Saxena, R., Babadi, M., Namvarhaghighi, H., & Roullet, F. (2020) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.05.002 · Cited by 40 · see citing works
Gene × environment interactions in autism spectrum disorders
Keil, K. P., & Lein, P. J. (2022) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2022.11.001 · Cited by 37 · see citing works
Howell, B. W., & Smith, K. M. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2018.11.019 · Cited by 35 · see citing works
Li, Z., Jagadapillai, R., Gozal, E., & Barnes, G. N. (2019) · Molecular Neurobiology · doi:10.1007/s12035-018-1450-9 · Cited by 34 · see citing works
Critical Role of the Maternal Immune System in the Pathogenesis of Autism Spectrum Disorder
Ravaccia, D., & Ghafourian, T. (2020) · Biomedicines · doi:10.3390/biomedicines8120557 · Cited by 31 · see citing works
Cunha, Y. G. D. O., do Amaral, G. C. B., Felix, A. A., Blumberg, B., & Amato, A. A. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1184546 · Cited by 31 · see citing works
“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).”
BackgroundA proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder
Hegarty, J. P., Gu, M., Spielman, D. M., Cleveland, S. C., Hallmayer, J. F., Lazzeroni, L. C., Raman, M. M., Frazier, T. W., Phillips, J. M., Reiss, A. L., et al. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.09.016 · Cited by 30 · see citing works
“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).”
Self-citationThe effect of probiotic, prebiotic and gut microbiota on ASD: A review and future perspectives
Şanlıer, N., & Kocabaş, Ş. (2021) · Critical Reviews in Food Science and Nutrition · doi:10.1080/10408398.2021.1973957 · Cited by 30 · see citing works
Frazier, T. W., Youngstrom, E. A., Hardan, A. Y., Georgiades, S., Constantino, J. N., & Eng, C. (2015) · Molecular Autism · doi:10.1186/s13229-015-0050-z · Cited by 30 · see citing works
“Do elevated symptom levels in non-ASD children from multiple incidence families vary across different autism symptom domains, as would be predicted from studies implying different etiological influences on social and repetitive behavior symptoms [14, 15]? Or is a general predisposition observed toward social deficits…”
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Ryan, A. M., & Bauman, M. D. (2022) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2022.02.012 · Cited by 24 · see citing works
“(40) Rhesus Macaque Pregnant dams (N = 4) received poly(ICLC)”
Hu, V. W., Devlin, C. A., & Debski, J. J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20153804 · Cited by 24 · see citing works
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
Woodbury‐Smith, M., Paterson, A. D., Thiruvahindrapduram, B., Lionel, A. C., Marshall, C. R., Merico, D., Fernandez, B. A., Duku, E., Sutcliffe, J. S., O’Conner, I., et al. (2014) · Human Genetics · doi:10.1007/s00439-014-1513-6 · Cited by 22 · see citing works
“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).”
Transtorno do espectro autista e a suplementação por ácido fólico antes e durante a gestação
Maia, C. S., de Menezes, K. M. C., Tenório, F. D. C. Â. M., Júnior, J. R. A. D. Q., & Maciel, G. E. D. S. (2019) · Jornal Brasileiro de Psiquiatria · doi:10.1590/0047-2085000000251 · Cited by 20 · see citing works
Jaini, R., Wolf, M. R., Yu, Q., King, A. T., Frazier, T. W., & Eng, C. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01472-x · Cited by 21 · see citing works
Self-citationMazahery, H., Conlon, C. A., Beck, K. L., Kruger, M. C., Stonehouse, W., Camargo, C. A., Meyer, B. J., Tsang, B., Mugridge, O., & von Hurst, P. R. (2016) · Trials · doi:10.1186/s13063-016-1428-8 · Cited by 20 · see citing works
“The high heritability of ASD has been shown by twin and familial studies [8, 9].”
On the Continuity Between Autistic and Schizoid Personality Disorder Trait Burden
Cook, M. L., Zhang, Y., & Constantino, J. N. (2019) · The Journal of Nervous and Mental Disease · doi:10.1097/nmd.0000000000001105 · Cited by 19 · see citing works
Large Databases for Pediatric Research on Children with Autism Spectrum Disorder
Kuhlthau, K. A., Bailey, L. C., Chen, B. B., Coury, D. L., Law, K., Murray, D. S., Razzaghi, H., Forrest, C. B., & Lipkin, P. H. (2017) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000000534 · Cited by 18 · see citing works
Heritability of quantitative autism spectrum traits in adults: A family‐based study
Taylor, S. C., Steeman, S. L., Gehringer, B. N., Dow, H. C., Langer, A., Rawot, E., Perez, L. S., Goodman, M., Smernoff, Z., Grewal, M., et al. (2021) · Autism Research · doi:10.1002/aur.2571 · Cited by 17 · see citing works
Prenatal and postnatal exposure to heavy metals in PM2.5 and autism spectrum disorder
Lin, H.-H., Jung, C., Lin, C., Chang, Y.-C., Hsieh, C.-Y., Hsu, P.-C., Chuang, B., & Hwang, B. (2023) · Environmental Research · doi:10.1016/j.envres.2023.116874 · Cited by 18 · see citing works
Autism: One or many spectrums?
Ure, A. M., Rose, V., Bernie, C., & Williams, K. J. (2018) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.14176 · Cited by 16 · see citing works
Satoshi Kanazawa, A., & Segal, N. L. (2017) · Journal of Experimental Child Psychology · doi:10.1016/j.jecp.2016.11.014 · Cited by 16 · see citing works
microRNAs in Autism Spectrum Disorders
Vasu, M. M., Sumitha, P. S., Parakkal, R., Thanseem, I., & Anitha, A. (2019) · Current Pharmaceutical Design · doi:10.2174/1381612825666191105120901 · Cited by 15 · see citing works
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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).”
Kim, S., Lee, B., Choi, J., Kim, J.-H., Kim, C., & Shin, H. (2017) · Scientific Reports · doi:10.1038/s41598-017-16769-5 · Cited by 15 · see citing works
Trevis, K. J., Brown, N. J., Green, C. C., Lockhart, P. J., Hickey, P., Fanjul‐Fernández, M., Bromhead, C. J., Desai, T., Vick, T., Gillies, G., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21217965 · Cited by 13 · see citing works
“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].”
BackgroundWerling, A. M., Grünblatt, E., Oneda, B., Bobrowski, E., Gundelfinger, R., Taurines, R., Romanos, M., Rauch, A. M., & Walitza, S. (2019) · Journal of Neural Transmission · doi:10.1007/s00702-019-02114-9 · Cited by 12 · see citing works
Marí-Bauset, S., Peraita-Costa, I., Donat-Vargas, C., Llopis-González, A., Marí-Sanchis, A., Llopis-Morales, J., & Morales Suárez-Varela, M. (2022) · Autism · doi:10.1177/13623613211039950 · Cited by 10 · see citing works
“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).”
MethodJin, F., & Wang, Z. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1514678 · Cited by 12 · see citing works
Development of a GIS-based alert system to mitigate flash flood impacts in Asyut governorate, Egypt
Mohamed, S. A. (2021) · Natural Hazards · doi:10.1007/s11069-021-04799-2 · Cited by 11 · see citing works
Towards an Understanding of Spirituality in the Context of Nonverbal Autism: A Scoping Review
Hills, K., Clapton, J., & Dorsett, P. (2016) · Journal of Disability & Religion · doi:10.1080/23312521.2016.1244501 · Cited by 10 · see citing works
Role of SHANK3 in concentrated ambient PM2. 5 exposure induced autism-like phenotype
Li, K., Liang, X., Xie, X., Tian, L., Yan, J., Lin, B., Liu, H., Lai, W., Liu, X., & Xi, Z. (2023) · Heliyon · doi:10.1016/j.heliyon.2023.e14328 · Cited by 10 · see citing works
A review of prevalence studies of Autism Spectrum Disorder by latitude and solar irradiance impact
Syed, S., Moore, K., & March, E. (2017) · Medical Hypotheses · doi:10.1016/j.mehy.2017.09.012 · Cited by 10 · see citing works
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 · see citing works
Uyanık, K. Ç. P., Yiğin, A. K., Doğangün, B., & Seven, M. (2021) · Immunological Investigations · doi:10.1080/08820139.2020.1870489 · Cited by 8 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
“…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 7 · see citing works
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 6 · see citing works
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 · see citing works
“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 · see citing works
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 6 · see citing works
An investigation of autistic opinions about autism-related genomic research
Ellis, R., & Asbury, K. (2024) · Neurodiversity · doi:10.1177/27546330241287317 · Cited by 6 · see citing works
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 · see citing works
“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 5 · see citing works
“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 · see citing works
Wegmann, B., Tatemoto, P., Miemczyk, S., Ludvigsson, J., & Guerrero‐Bosagna, C. (2023) · Scientific Reports · doi:10.1038/s41598-023-38780-9 · Cited by 5 · see citing works
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 · see citing works
Libster, N., Harwood, R., Meacham, K., & Kasari, C. L. (2024) · Autism · doi:10.1177/13623613241241577 · Cited by 4 · see citing works
“…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 4 · see citing works
“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 · see citing works
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 · see citing works
Charman, T., & Chakrabarti, B. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12527 · Cited by 4 · see citing works
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 · see citing works
“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 · see citing works
“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 · see citing works
“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 · see citing works
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 2 · see citing works
“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 1 · see citing works
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 · see citing works
McKernan, E. P. (2017) · Syracuse University Libraries (Syracuse University) · Cited by 1 · see citing works
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 · see citing works
- 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 · 2012: 1
- 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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