Skip to main content
Top
Gepubliceerd in: Journal of Autism and Developmental Disorders 8/2014

01-08-2014 | Original Paper

A Twin Study of Heritable and Shared Environmental Contributions to Autism

Auteurs: Thomas W. Frazier, Lee Thompson, Eric A. Youngstrom, Paul Law, Antonio Y. Hardan, Charis Eng, Nathan Morris

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 8/2014

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

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 (\( {\text{h}}_{g}^{2} = . 9 2{-} 1. 20 \)). 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.
Bijlagen
Alleen toegankelijk voor geautoriseerde gebruikers
Literatuur
go back to reference Bailey, A., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.PubMedCrossRef Bailey, A., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.PubMedCrossRef
go back to reference Bortolus, R., Parazzini, F., Chatenoud, L., Benzi, G., Bianchi, M. M., & Marini, A. (1999). The epidemiology of multiple births. Hum Reprod Update, 5, 179–187.PubMedCrossRef Bortolus, R., Parazzini, F., Chatenoud, L., Benzi, G., Bianchi, M. M., & Marini, A. (1999). The epidemiology of multiple births. Hum Reprod Update, 5, 179–187.PubMedCrossRef
go back to reference Centers for Disease Control and Prevention. (2012). Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 Sites, United States, 2008. MMWR, 61, 1–19. Centers for Disease Control and Prevention. (2012). Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 Sites, United States, 2008. MMWR, 61, 1–19.
go back to reference Chandler, S., et al. (2007). Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 46, 1324–1332. doi:10.1097/chi.0b013e31812f7d8d.PubMedCrossRef Chandler, S., et al. (2007). Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 46, 1324–1332. doi:10.​1097/​chi.​0b013e31812f7d8d​.PubMedCrossRef
go back to reference Cherney, S. S., DeFries, J. C., & Fulker, D. W. (1992). Multiple regression analysis of twin data: A model-fitting approach. Behavior Genetics, 22, 489–497.CrossRef Cherney, S. S., DeFries, J. C., & Fulker, D. W. (1992). Multiple regression analysis of twin data: A model-fitting approach. Behavior Genetics, 22, 489–497.CrossRef
go back to reference Constantino, J. N., & Gruber, C. P. (2005). Social responsiveness scale: Manual. CA, Western Psychological Services: Los Angeles. Constantino, J. N., & Gruber, C. P. (2005). Social responsiveness scale: Manual. CA, Western Psychological Services: Los Angeles.
go back to reference Constantino, J. N., & Todd, R. D. (2000). Genetic structure of reciprocal social behavior. American Journal of Psychiatry, 157, 2043–2045.PubMedCrossRef Constantino, J. N., & Todd, R. D. (2000). Genetic structure of reciprocal social behavior. American Journal of Psychiatry, 157, 2043–2045.PubMedCrossRef
go back to reference Constantino, J. N., & Todd, R. D. (2003). Autistic traits in the general population: A twin study. Archives of General Psychiatry, 60, 524–530.PubMedCrossRef Constantino, J. N., & Todd, R. D. (2003). Autistic traits in the general population: A twin study. Archives of General Psychiatry, 60, 524–530.PubMedCrossRef
go back to reference Constantino, J. N., & Todd, R. D. (2005). Intergenerational transmission of subthreshold autistic traits in the general population. Biological Psychiatry, 57, 655–660.PubMedCrossRef Constantino, J. N., & Todd, R. D. (2005). Intergenerational transmission of subthreshold autistic traits in the general population. Biological Psychiatry, 57, 655–660.PubMedCrossRef
go back to reference Croen, L. A., Grether, J. K., Yoshida, C. K., Odouli, R., & Van de Water, J. (2005). Maternal autoimmune diseases, asthma and allergies, and childhood autism spectrum disorders: A case-control study. Archives of Pediatrics and Adolescent Medicine, 159, 151–157. doi:10.1001/archpedi.159.2.151.PubMedCrossRef Croen, L. A., Grether, J. K., Yoshida, C. K., Odouli, R., & Van de Water, J. (2005). Maternal autoimmune diseases, asthma and allergies, and childhood autism spectrum disorders: A case-control study. Archives of Pediatrics and Adolescent Medicine, 159, 151–157. doi:10.​1001/​archpedi.​159.​2.​151.PubMedCrossRef
go back to reference Davie, A. M. (1979). The ‘singles’ method for segregation analysis under incomplete ascertainment. Annals of Human Genetics, 42, 507–512.PubMedCrossRef Davie, A. M. (1979). The ‘singles’ method for segregation analysis under incomplete ascertainment. Annals of Human Genetics, 42, 507–512.PubMedCrossRef
go back to reference DeFries, J. C., & Fulker, D. W. (1985). Multiple regression analysis of twin data. Behavior Genetics, 15, 467–473.PubMedCrossRef DeFries, J. C., & Fulker, D. W. (1985). Multiple regression analysis of twin data. Behavior Genetics, 15, 467–473.PubMedCrossRef
go back to reference DeFries, J. C., & Fulker, D. W. (1988). Multiple regression analysis of twin data: Etiology of deviant scores versus individual differences. Acta Geneticae Medicae et Gemellologiae: Twin Research, 37, 205–216.PubMed DeFries, J. C., & Fulker, D. W. (1988). Multiple regression analysis of twin data: Etiology of deviant scores versus individual differences. Acta Geneticae Medicae et Gemellologiae: Twin Research, 37, 205–216.PubMed
go back to reference Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry and Allied Disciplines, 18, 297–321.CrossRef Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry and Allied Disciplines, 18, 297–321.CrossRef
go back to reference Grether, J. K., Anderson, M. C., Croen, L. A., Smith, D., & Windham, G. C. (2009). Risk of autism and increasing maternal and paternal age in a large north American population. American Journal of Epidemiology, 170, 1118–1126. doi:10.1093/aje/kwp247.PubMedCrossRef Grether, J. K., Anderson, M. C., Croen, L. A., Smith, D., & Windham, G. C. (2009). Risk of autism and increasing maternal and paternal age in a large north American population. American Journal of Epidemiology, 170, 1118–1126. doi:10.​1093/​aje/​kwp247.PubMedCrossRef
go back to reference Holmes, A. S., Blaxill, M. F., & Haley, B. E. (2003). Reduced levels of mercury in first baby haircuts of autistic children. International Journal of Toxicology, 22, 277–285.PubMedCrossRef Holmes, A. S., Blaxill, M. F., & Haley, B. E. (2003). Reduced levels of mercury in first baby haircuts of autistic children. International Journal of Toxicology, 22, 277–285.PubMedCrossRef
go back to reference Hu, V. W., Frank, B. C., Heine, S., Lee, N. H., & Quackenbush, J. (2006). Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics, 7, 118. doi:10.1186/1471-2164-7-118.PubMedCentralPubMedCrossRef Hu, V. W., Frank, B. C., Heine, S., Lee, N. H., & Quackenbush, J. (2006). Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics, 7, 118. doi:10.​1186/​1471-2164-7-118.PubMedCentralPubMedCrossRef
go back to reference Ip, P., Wong, V., Ho, M., Lee, J., & Wong, W. (2004). Mercury exposure in children with autistic spectrum disorder: Case-control study. Journal of Child Neurology, 19, 431–434.PubMed Ip, P., Wong, V., Ho, M., Lee, J., & Wong, W. (2004). Mercury exposure in children with autistic spectrum disorder: Case-control study. Journal of Child Neurology, 19, 431–434.PubMed
go back to reference Kidd, K. K., & Cavalli-Sforza, L. L. (1973). An analysis of the genetics of schizophrenia. Social Biology, 20, 254–265.PubMed Kidd, K. K., & Cavalli-Sforza, L. L. (1973). An analysis of the genetics of schizophrenia. Social Biology, 20, 254–265.PubMed
go back to reference Knopik, V. S., Alarcon, M., & DeFries, J. C. (1997). Comorbidity of mathematics and reading deficits: Evidence for a genetic etiology. Behavior Genetics, 27, 447–453.PubMedCrossRef Knopik, V. S., Alarcon, M., & DeFries, J. C. (1997). Comorbidity of mathematics and reading deficits: Evidence for a genetic etiology. Behavior Genetics, 27, 447–453.PubMedCrossRef
go back to reference Lee, H., et al. (2010). Accuracy of phenotyping of autistic children based on internet implemented parent report. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B, 1119–1126. doi:10.1002/ajmg.b.31103. Lee, H., et al. (2010). Accuracy of phenotyping of autistic children based on internet implemented parent report. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B, 1119–1126. doi:10.​1002/​ajmg.​b.​31103.
go back to reference Martin, J. A., Hamilton, B. E., & Osterman, M. J. K. (2012). Three decades of twin births in the United States, 1980–2009. NCHS data brief., vol 80. Hyattsville, MD: National Center for Health Statistics. Martin, J. A., Hamilton, B. E., & Osterman, M. J. K. (2012). Three decades of twin births in the United States, 1980–2009. NCHS data brief., vol 80. Hyattsville, MD: National Center for Health Statistics.
go back to reference Moss, J., Magiati, I., Charman, T., & Howlin, P. (2008). Stability of the autism diagnostic interview-revised from pre-school to elementary school age in children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 38, 1081–1091. doi:10.1007/s10803-007-0487-9.PubMedCrossRef Moss, J., Magiati, I., Charman, T., & Howlin, P. (2008). Stability of the autism diagnostic interview-revised from pre-school to elementary school age in children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 38, 1081–1091. doi:10.​1007/​s10803-007-0487-9.PubMedCrossRef
go back to reference Newschaffer, C. J., Fallin, D., & Lee, N. L. (2002). Heritable and nonheritable risk factors for autism spectrum disorders. Epidemiologic Reviews, 24, 137–153.PubMedCrossRef Newschaffer, C. J., Fallin, D., & Lee, N. L. (2002). Heritable and nonheritable risk factors for autism spectrum disorders. Epidemiologic Reviews, 24, 137–153.PubMedCrossRef
go back to reference Purcell, S., & Sham, P. C. (2003). A model-fitting implementation of the DeFries-Fulker model for selected twin data. Behavior Genetics, 33, 271–278.PubMedCrossRef Purcell, S., & Sham, P. C. (2003). A model-fitting implementation of the DeFries-Fulker model for selected twin data. Behavior Genetics, 33, 271–278.PubMedCrossRef
go back to reference Rice, C. (2009). Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, United States, 2006. MMWR Surveill Summ, 58, 1–20. Rice, C. (2009). Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, United States, 2006. MMWR Surveill Summ, 58, 1–20.
go back to reference Rietveld, M. J., van Der Valk, J. C., Bongers, I. L., Stroet, T. M., Slagboom, P. E., & Boomsma, D. I. (2000). Zygosity diagnosis in young twins by parental report. Twin Research, 3, 134–141.PubMedCrossRef Rietveld, M. J., van Der Valk, J. C., Bongers, I. L., Stroet, T. M., Slagboom, P. E., & Boomsma, D. I. (2000). Zygosity diagnosis in young twins by parental report. Twin Research, 3, 134–141.PubMedCrossRef
go back to reference Rijsdijk, F. V., & Sham, P. C. (2002). Analytic approaches to twin data using structural equation models. Brief Bioinformatics, 3, 119–133.PubMedCrossRef Rijsdijk, F. V., & Sham, P. C. (2002). Analytic approaches to twin data using structural equation models. Brief Bioinformatics, 3, 119–133.PubMedCrossRef
go back to reference Ritvo, E. R., Freeman, B. J., Mason-Brothers, A., Mo, A., & Ritvo, A. M. (1985). Concordance for the syndrome of autism in 40 pairs of afflicted twins. American Journal of Psychiatry, 142, 74–77.PubMed Ritvo, E. R., Freeman, B. J., Mason-Brothers, A., Mo, A., & Ritvo, A. M. (1985). Concordance for the syndrome of autism in 40 pairs of afflicted twins. American Journal of Psychiatry, 142, 74–77.PubMed
go back to reference Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156B, 255–274. doi:10.1002/ajmg.b.31159.CrossRef Ronald, A., & Hoekstra, R. A. (2011). Autism spectrum disorders and autistic traits: A decade of new twin studies. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156B, 255–274. doi:10.​1002/​ajmg.​b.​31159.CrossRef
go back to reference Ronald, A., Simonoff, E., Kuntsi, J., Asherton, P., & Plomin, R. (2008). Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. Journal of Child Psychology and Psychiatry, 49, 535–542.PubMedCrossRef Ronald, A., Simonoff, E., Kuntsi, J., Asherton, P., & Plomin, R. (2008). Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. Journal of Child Psychology and Psychiatry, 49, 535–542.PubMedCrossRef
go back to reference Ronald, A., et al. (2006b). Genetic heterogeneity between the three components of the autism spectrum: A twin study. Journal of the American Academy of Child and Adolescent Psychiatry, 45, 691–699.PubMedCrossRef Ronald, A., et al. (2006b). Genetic heterogeneity between the three components of the autism spectrum: A twin study. Journal of the American Academy of Child and Adolescent Psychiatry, 45, 691–699.PubMedCrossRef
go back to reference Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009). Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatrics and Adolescent Medicine, 163, 907–914. doi:10.1001/archpediatrics.2009.98.PubMedCrossRef Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009). Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Archives of Pediatrics and Adolescent Medicine, 163, 907–914. doi:10.​1001/​archpediatrics.​2009.​98.PubMedCrossRef
go back to reference Rutter, M., Bailey, A., & Lord, C. (2003). The social communication questionnaire manual. CA, Western Psychological Services: Los Angeles. Rutter, M., Bailey, A., & Lord, C. (2003). The social communication questionnaire manual. CA, Western Psychological Services: Los Angeles.
go back to reference Sandin, S., Hultman, C. M., Kolevzon, A., Gross, R., MacCabe, J. H., & Reichenberg, A. (2012). Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 51(477–486), e1. doi:10.1016/j.jaac.2012.02.018.PubMed Sandin, S., Hultman, C. M., Kolevzon, A., Gross, R., MacCabe, J. H., & Reichenberg, A. (2012). Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 51(477–486), e1. doi:10.​1016/​j.​jaac.​2012.​02.​018.PubMed
go back to reference Schmidt, R. J., et al. (2012). Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. American Journal of Clinical Nutrition, 96, 80–89. doi:10.3945/ajcn.110.004416.PubMedCentralPubMedCrossRef Schmidt, R. J., et al. (2012). Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. American Journal of Clinical Nutrition, 96, 80–89. doi:10.​3945/​ajcn.​110.​004416.PubMedCentralPubMedCrossRef
go back to reference Skuse, D. H., Mandy, W. P., & Scourfield, J. (2005). Measuring autistic traits: heritability, reliability and validity of the social and communication disorders checklist. British Journal of Psychiatry, 187, 568–572. doi:10.1192/bjp.187.6.568.PubMedCrossRef Skuse, D. H., Mandy, W. P., & Scourfield, J. (2005). Measuring autistic traits: heritability, reliability and validity of the social and communication disorders checklist. British Journal of Psychiatry, 187, 568–572. doi:10.​1192/​bjp.​187.​6.​568.PubMedCrossRef
go back to reference Steffenburg, S., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30, 405–416.PubMedCrossRef Steffenburg, S., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30, 405–416.PubMedCrossRef
go back to reference Stevenson, J. (1992). Evidence for a genetic etiology in hyperactivity in children. Behavior Genetics, 22, 337–344.PubMedCrossRef Stevenson, J. (1992). Evidence for a genetic etiology in hyperactivity in children. Behavior Genetics, 22, 337–344.PubMedCrossRef
go back to reference Stevenson, J., Pennington, B. F., Gilger, J. W., DeFries, J. C., & Gillis, J. J. (1993). Hyperactivity and spelling disability: Testing for shared genetic aetiology. Journal of Child Psychology and Psychiatry, 34, 1137–1152.PubMedCrossRef Stevenson, J., Pennington, B. F., Gilger, J. W., DeFries, J. C., & Gillis, J. J. (1993). Hyperactivity and spelling disability: Testing for shared genetic aetiology. Journal of Child Psychology and Psychiatry, 34, 1137–1152.PubMedCrossRef
go back to reference Stilp, R. L., Gernsbacher, M. A., Schweigert, E. K., Arneson, C. L., & Goldsmith, H. H. (2010). Genetic variance for autism screening items in an unselected sample of toddler-age twins. Journal of the American Academy of Child and Adolescent Psychiatry, 49, 267–276.PubMedCentralPubMed Stilp, R. L., Gernsbacher, M. A., Schweigert, E. K., Arneson, C. L., & Goldsmith, H. H. (2010). Genetic variance for autism screening items in an unselected sample of toddler-age twins. Journal of the American Academy of Child and Adolescent Psychiatry, 49, 267–276.PubMedCentralPubMed
go back to reference Szatmari, P., et al. (2012). Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B, 5–12. doi:10.1002/ajmg.b.31238.PubMedCrossRef Szatmari, P., et al. (2012). Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B, 5–12. doi:10.​1002/​ajmg.​b.​31238.PubMedCrossRef
go back to reference Taniai, H., Nishiyama, T., Miyachi, T., Imaeda, M., & Sumi, S. (2008). Genetic influences on the broad spectrum of autism: Study of proband-ascertained twins. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B, 844–849. doi:10.1002/ajmg.b.30740.CrossRef Taniai, H., Nishiyama, T., Miyachi, T., Imaeda, M., & Sumi, S. (2008). Genetic influences on the broad spectrum of autism: Study of proband-ascertained twins. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B, 844–849. doi:10.​1002/​ajmg.​b.​30740.CrossRef
go back to reference Windham, G. C., Zhang, L., Gunier, R., Croen, L. A., & Grether, J. K. (2006). Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco bay area. Environmental Health Perspectives, 114, 1438–1444.PubMedCentralPubMedCrossRef Windham, G. C., Zhang, L., Gunier, R., Croen, L. A., & Grether, J. K. (2006). Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco bay area. Environmental Health Perspectives, 114, 1438–1444.PubMedCentralPubMedCrossRef
go back to reference Zhao, X., et al. (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences, 104, 12831–12836.CrossRef Zhao, X., et al. (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences, 104, 12831–12836.CrossRef
Metagegevens
Titel
A Twin Study of Heritable and Shared Environmental Contributions to Autism
Auteurs
Thomas W. Frazier
Lee Thompson
Eric A. Youngstrom
Paul Law
Antonio Y. Hardan
Charis Eng
Nathan Morris
Publicatiedatum
01-08-2014
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 8/2014
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-014-2081-2

Andere artikelen Uitgave 8/2014

Journal of Autism and Developmental Disorders 8/2014 Naar de uitgave