Skip to main content
SpringerLink
Log in
Book cover

Behavior Genetics of Psychopathology pp 33–65Cite as

Progress in Understanding the Causes of Autism Spectrum Disorders and Autistic Traits: Twin Studies from 1977 to the Present Day

  • Chapter
  • First Online:

Part of the book series: Advances in Behavior Genetics ((AIBG,volume 2))

Abstract

Researchers continue to pursue a better understanding of the symptoms, comorbidities, and causes of autism spectrum disorders. In this chapter, we review the twin studies of autism spectrum disorders (ASDs) and autistic traits that have contributed to this endeavor. These twin studies have reported on the heritability of ASDs and autistic traits in different populations and using different measurement and age groups. These studies reveal that the etiology of clinical autism and autistic traits assessed in the general population is more similar than different, which contributes to the question of where the boundary lies between ASD and typical development. These studies have also stimulated debates and new hypotheses regarding what causes ASDs; their comorbidity with intellectual disability, language delay, and psychiatric disorders such as ADHD; and why ASDs show substantial symptom heterogeneity. Lastly, methodological assumptions of the twin design are given consideration in relation to autism research. We conclude with suggesting a range of future research directions for studying ASDs and related phenotypes.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Notes

  1. 1.

    Case studies of single twin pairs with ASD have been omitted from this review. Although case studies are useful at a descriptive level, statistical results cannot be derived from individual pairs.

References

  • Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9, 341–355.

    PubMed Central  PubMed  Google Scholar 

  • Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., et al. (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics, 82, 150–159.

    PubMed Central  PubMed  Google Scholar 

  • American Psychiatric Association. (2000). Diagnostic and Statistical Manual for Mental Disorders. Author: Washington, DC.

    Google Scholar 

  • Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics, 19, 4072–4082.

    PubMed  Google Scholar 

  • Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.

    PubMed  Google Scholar 

  • Bailey, A., Palferman, S., Heavey, L., & Le Couteur, A. (1998). Autism: The phenotype in relatives. Journal of Autism and Developmental Disorders, 28, 369–392.

    PubMed  Google Scholar 

  • Baio, J., et al. (2012). Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, 14 sites, United States, 2008. MMWR Surveillance Summaries, 61, 1–19.

    Google Scholar 

  • Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The autism-spectrum quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31, 5–17.

    PubMed  Google Scholar 

  • Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Research, 1380, 42–77.

    PubMed  Google Scholar 

  • Betancur, C., Leboyer, M., & Gillberg, C. (2002). Increased rate of twins among affected sibling pairs with autism. American Journal of Human Genetics, 70, 1381–1383.

    PubMed Central  PubMed  Google Scholar 

  • Bishop, D. V. M. (1989). Autism, Asperger’s syndrome and semantic-pragmatic disorder: Where are the boundaries? The British Journal of Disorders of Communication, 24, 107–121.

    PubMed  Google Scholar 

  • Bishop, D. V. M. (2002). The role of genes in the etiology of specific language impairment. Journal of Communication Disorders, 35, 311–328.

    PubMed  Google Scholar 

  • Bishop, D. V. M., Maybery, M., Wong, D., Maley, A., & Hallmayer, J. (2006). Characteristics of the broader phenotype in autism: A study of siblings using the children’s communication checklist-2. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 141B, 117–122.

    Google Scholar 

  • Bolton, P., Macdonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., et al. (1994). A case–control family history study of autism. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 35, 877–900.

    PubMed  Google Scholar 

  • Boomsma, D. I., Busjahn, A., & Peltonen, L. (2002). Classical twin studies and beyond. Nature Reviews Genetics, 3, 872–882.

    PubMed  Google Scholar 

  • Brune, C. W., Kim, S., Salt, J., Leventhal, B. L., Lord, C., & Cook, E. H. (2006). 5-HTTLPR Genotype-specific phenotype in children and adolescents with autism. American Journal of Psychiatry, 163, 2148–2156.

    PubMed  Google Scholar 

  • Chakrabarti, S., & Fombonne, E. (2005). Pervasive developmental disorders in preschool children: Confirmation of high prevalence. American Journal of Psychiatry, 162, 1133–1141.

    PubMed  Google Scholar 

  • Constantino, J. N. (2002). The social responsiveness scale. Los Angeles, CA: Western Psychological Services.

    Google Scholar 

  • Constantino, J. N., Abbacchi, A. M., Lavesser, P. D., Reed, H., Givens, L., Chiang, L., et al. (2009). Developmental course of autistic social impairment in males. Development and Psychopathology, 21, 127–138.

    PubMed Central  PubMed  Google Scholar 

  • Constantino, J. N., Gruber, C. P., Davis, S. A., Hayes, S., Passanante, N., & Przybeck, T. (2004). The factor structure of autistic traits. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 45, 719–726.

    PubMed  Google Scholar 

  • Constantino, J. N., Hudziak, J. J., & Todd, R. D. (2003). Deficits in reciprocal social behavior in male twins: Evidence for a genetically independent domain of psychopathology. Journal of the American Academy of Child and Adolescent Psychiatry, 42, 458–467.

    PubMed  Google Scholar 

  • Constantino, J. N., Lajonchere, C., Lutz, M., Gray, T., Abbacchi, A., McKenna, K., et al. (2006). Autistic social impairment in the siblings of children with pervasive developmental disorders. American Journal of Psychiatry, 163, 294–296.

    PubMed  Google Scholar 

  • Constantino, J. N., & Todd, R. D. (2000). Genetic structure of reciprocal social behavior. American Journal of Psychiatry, 157, 2043–2045.

    PubMed  Google Scholar 

  • Constantino, J. N., & Todd, R. D. (2003). Autistic traits in the general population: A twin study. Archives of General Psychiatry, 60, 524–530.

    PubMed  Google Scholar 

  • Constantino, J. N., & Todd, R. D. (2005). Intergenerational transmission of subthreshold autistic traits in the general population. Biological Psychiatry, 57, 655–660.

    PubMed  Google Scholar 

  • Croen, L. A., Grether, J. K., & Selvin, S. (2002). Descriptive epidemiology of autism in a California population: Who is at risk? Journal of Autism and Developmental Disorders, 32, 217–224.

    PubMed  Google Scholar 

  • Curran, S., Dworzynski, K., Happé, F., Ronald, A., Allison, C., Baron-Cohen, S., et al. (2011). No major effect of twinning on autistic traits. Autism Research, 4, 377–382.

    PubMed  Google Scholar 

  • De Giacomo, A., & Fombonne, E. (1998). Parental recognition of developmental abnormalities in autism. European Child & Adolescent Psychiatry, 7, 131–136.

    Google Scholar 

  • Dworzynski, K., Happé, F., Bolton, P., & Ronald, A. (2009). Relationship between symptom domains in autism spectrum disorders: A population based twin study. Journal of Autism and Developmental Disorders, 39, 1197–1210.

    PubMed  Google Scholar 

  • Dworzynski, K., Ronald, A., Hayiou-Thomas, M. E., Happé, F., Bolton, P., & Plomin, R. (2008). Developmental path between language and autistic impairments: A twin study. Infant and Child Development, 17, 121–136.

    Google Scholar 

  • Dworzynski, K., Ronald, A., Hayiou-Thomas, M., Rijsdijk, F., Happé, F., Bolton, P. F., et al. (2007). Aetiological relationship between language performance and autistic-like traits in childhood: A twin study. International Journal of Language & Communication Disorders, 42, 273–292.

    Google Scholar 

  • Eaves, L. (2009). Putting the ‘human’ back in genetics: Modeling the extended kinships of twins. Twin Research and Human Genetics, 12, 1–7.

    PubMed  Google Scholar 

  • Edelson, L. R., Ronald, A., & Saudino, K. J. (2009). The etiology of social and nonsocial components of autistic behavior in young twins. International Meeting for Autism Research, Chicago, IL.

    Google Scholar 

  • Edelson, L. R., & Saudino, K. J. (2009). Genetic and environmental influences on autistic-like behaviors in 2-year-old twins. Behavior Genetics, 39, 255–264.

    PubMed  Google Scholar 

  • Folstein, S., & Rutter, M. (1977). Genetic influences and infantile autism. Nature, 265, 726–728.

    PubMed  Google Scholar 

  • Fombonne, E. (2006). Past and future perspectives on autism epidemiology. In S. O. Moldin & J. R. L. Rubenstein (Eds.), Understanding autism, from basic neuroscience to treatment (pp. 25–48). Boca Raton, FL: Taylor & Francis.

    Google Scholar 

  • Freitag, C. M., Staal, W., Klauck, S. M., Duketis, E., & Waltes, R. (2010). Genetics of autistic disorders: Review and clinical implications. European Child & Adolescent Psychiatry, 19, 169–178.

    Google Scholar 

  • Geschwind, D. H. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Sciences, 5, 409–416.

    Google Scholar 

  • Gillberg, C. L. (1992). Autism and autistic-like conditions: Subclasses among disorders of empathy. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 33, 813–842.

    PubMed  Google Scholar 

  • Goodman, R. (1989). Infantile autism: A syndrome of multiple primary deficits? Journal of Autism and Developmental Disorders, 19, 409–424.

    PubMed  Google Scholar 

  • Greenberg, D. A., Hodge, S. E., Sowinski, J., & Nicoll, D. (2001). Excess of twins among affected sibling pairs with autism: Implications for the etiology of autism. American Journal of Human Genetics, 69, 1062–1067.

    PubMed Central  PubMed  Google Scholar 

  • Grinker, R. R. (2007). Unstrange minds: Remapping the worlds of autism. New York: Basic Books.

    Google Scholar 

  • Grinker, R. R., Chambers, N., Njongwe, N., Lagman, A. E., Guthrie, W., Stronach, S., et al. (2012). “Communities” in community engagement: Lessons learned from Autism Research in South Korea and South Africa. Autism Research, 5, 201–210.

    PubMed Central  PubMed  Google Scholar 

  • Hallett, V., Ronald, A., & Happé, F. (2009). Investigating the association between autistic-like and internalizing traits in a community-based twin sample. Journal of the American Academy of Child and Adolescent Psychiatry, 48, 618–627.

    PubMed  Google Scholar 

  • Hallett, V., Ronald, A., Rijsdijk, F., & Happé, F. (2010). Association of autistic-like and internalizing traits during childhood: A longitudinal twin study. American Journal of Psychiatry, 167, 809–817.

    PubMed  Google Scholar 

  • Hallett, V., Ronald, A., Rijsdijk, F., & Happé, F. (2012). Disentangling the Associations Between Autistic-Like and Internalizing Traits: A Community Based Twin Study. Journal of Abnormal Child Psychology, 40, 815–827.

    PubMed  Google Scholar 

  • Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., et al. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry, 68, 1095–1102.

    PubMed  Google Scholar 

  • Hallmayer, J., Glasson, E. J., Bower, C., Petterson, B., Croen, L. A., Grether, J., et al. (2002). On the twin risk in autism. American Journal of Human Genetics, 71, 941–946.

    PubMed Central  PubMed  Google Scholar 

  • Happé, F., & Ronald, A. (2008). The ‘fractionable autism triad’: A review of evidence from behavioral, genetic, cognitive and neural research. Neuropsychology Review, 18, 287–304.

    PubMed  Google Scholar 

  • Happé, F., Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for autism. Nature Neuroscience, 9, 1218–1220.

    PubMed  Google Scholar 

  • Ho, A., Todd, R. D., & Constantino, J. N. (2005). Brief report: Autistic traits in twins vs. non-twins—A preliminary study. Journal of Autism and Developmental Disorders, 35, 129–133.

    PubMed  Google Scholar 

  • Hoekstra, R. A., Bartels, M., Cath, D. C., & Boomsma, D. I. (2008). Factor structure, reliability and criterion validity of the Autism-spectrum Quotient (AQ): A study in Dutch population and patient groups. Journal of Autism and Developmental Disorders, 38, 1555–1566.

    PubMed Central  PubMed  Google Scholar 

  • Hoekstra, R. A., Bartels, M., Hudziak, J. J., Van Beijsterveldt, T. C. E. M., & Boomsma, D. I. (2007). Genetic and environmental covariation between autistic traits and behavioral problems. Twin Research and Human Genetics, 10, 853–860.

    PubMed  Google Scholar 

  • Hoekstra, R. A., Bartels, M., Verweij, C. J. H., & Boomsma, D. I. (2007). Heritability of autistic traits in the general population. Archives of Pediatrics & Adolescent Medicine, 161, 372–377.

    Google Scholar 

  • Hoekstra, R. A., Happé, F., Baron-Cohen, S., & Ronald, A. (2009). Association between extreme autistic traits and intellectual disability: Insights from a general population twin study. British Journal of Psychiatry, 195, 531–536.

    PubMed  Google Scholar 

  • Hoekstra, R. A., Happé, F., Baron-Cohen, S., & Ronald, A. (2010). Limited genetic covariance between autistic traits and intelligence: Findings from a longitudinal twin study. American Journal of Medical Genetics. Part B. Neuropsychiatric Genetics, 153B, 994–1007.

    PubMed  Google Scholar 

  • 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.

    PubMed Central  PubMed  Google Scholar 

  • Hultman, C. M., Sparen, P., & Cnattingius, S. (2002). Perinatal risk factors for infantile autism. Epidemiology, 13, 417–423.

    PubMed  Google Scholar 

  • Jirtle, R. L., & Skinner, M. K. (2007). Environmental epigenomics and disease susceptibility. Nature Reviews Genetics, 8, 253–262.

    PubMed  Google Scholar 

  • Jones, A. P., Larsson, H., Ronald, A., Rijsdijk, F., Busfield, P., McMillan, A., et al. (2009). Phenotypic and aetiological relationships between psychopathic tendencies, autistic traits, and emotion attribution. Criminal Justice and Behavior, 36, 1198–1212.

    Google Scholar 

  • Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–50.

    Google Scholar 

  • Kates, W. R., Burnette, C. P., Eliez, S., Strunge, L. A., Kaplan, D., Landa, R., et al. (2004). Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism. American Journal of Psychiatry, 161, 539–546.

    PubMed  Google Scholar 

  • Kates, W. R., Ikuta, I., & Burnette, C. P. (2009). Gyrification patterns in monozygotic twin pairs varying in discordance for autism. Autism Research, 2, 267–278.

    PubMed  Google Scholar 

  • Kim, Y. S., Leventhal, B. L., Koh, Y. J., Fombonne, E., Laska, E., Lim, E. C., et al. (2011). Prevalence of autism spectrum disorders in a total population sample. American Journal of Psychiatry, 168, 904–912.

    PubMed  Google Scholar 

  • Kolevzon, A., Gross, R., & Reichenberg, A. (2007). Prenatal and perinatal risk factors for autism: A review and integration of findings. Archives of Pediatrics & Adolescent Medicine, 161, 326–333.

    Google Scholar 

  • Kolevzon, A., Smith, C. J., Schmeidler, J., Buxbaum, J. D., & Silverman, J. M. (2004). Familial symptom domains in monozygotic siblings with autism. American Journal of Medical Genetics. Part B. Neuropsychiatric Genetics, 129B, 76–81.

    PubMed  Google Scholar 

  • Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., Gottesman, I., et al. (1996). A broader phenotype of autism: The clinical spectrum in twins. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 37, 785–801.

    PubMed  Google Scholar 

  • Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C., & Anckarsäter, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. American Journal of Psychiatry, 167, 1357–1363.

    PubMed  Google Scholar 

  • Losh, M., Esserman, D., Anckarsäter, H., Sullivan, P. F., & Lichtenstein, P. (2012). Lower birth weight indicates higher risk of autistic traits in discordant twin pairs. Psychological Medicine, 42, 1091–1102.

    PubMed Central  PubMed  Google Scholar 

  • Lundström, S., Chang, Z., Kerekes, N., Gumpert, C. H., Råstam, M., Gillberg, C., et al. (2011). Autistic-like traits and their association with mental health problems in two nationwide twin cohorts of children and adults. Psychological Medicine, 41, 2423–2433.

    PubMed  Google Scholar 

  • Lundström, S., Chang, Z., Råstam, M., Gillberg, C., Larsson, H., Anckarsäter, H., et al. (2012). Autism spectrum disorders and autistic-like traits: Similar etiology in the extreme end and the normal variation. Archives of General Psychiatry, 69, 46–52.

    PubMed  Google Scholar 

  • Maes, H. H., Neale, M. C., Medland, S. E., Keller, M. C., Martin, N. G., Heath, A. C., et al. (2009). Flexible Mx specification of various extended twin kinship designs. Twin Research and Human Genetics, 12, 26–34.

    PubMed Central  PubMed  Google Scholar 

  • Mandy, W. P. L., & Skuse, D. H. (2008). Research review: What is the association between the social-communication element of autism and repetitive interests, behaviors and activities? Journal of Child Psychology and Psychiatry, and Allied Disciplines, 49, 795–808.

    PubMed  Google Scholar 

  • Mazefsky, C. A., Goin-Kochel, R. P., Riley, B. P., & Maes, H. H. (2008). Genetic and environmental influences on symptom domains in twins and siblings with autism. Research in Autism Spectrum Disorders, 2, 320–331.

    PubMed Central  PubMed  Google Scholar 

  • Mitchell, S. R., Reiss, A. L., Tatusko, D. H., Ikuta, I., Kazmerski, D. B., Botti, J. C., et al. (2009). Neuroanatomic alterations and social and communication deficits in monozygotic twins discordant for autism disorder. American Journal of Psychiatry, 166, 917–925.

    PubMed  Google Scholar 

  • Moruzzi, S., Ogliari, A., Ronald, A., Happé, F., & Battaglia, M. (2011). The nature of covariation between autistic traits and clumsiness: A twin study in a general population sample. Journal of Autism and Developmental Disorders, 41, 1665–1674.

    PubMed  Google Scholar 

  • Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242–245.

    PubMed Central  PubMed  Google Scholar 

  • Nguyen, A., Rauch, T. A., Pfeifer, G. P., & Hu, V. W. (2010). Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB Journal, 24, 3036–3051.

    PubMed  Google Scholar 

  • Nishiyama, T., Taniai, H., Miyachi, T., Ozaki, K., Tomita, M., & Sumi, S. (2009). Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs). Journal of Human Genetics, 54, 56–61.

    PubMed  Google Scholar 

  • O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., et al. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485, 246–250.

    PubMed Central  PubMed  Google Scholar 

  • Persico, A. M., & Bourgeron, T. (2006). Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends in Neurosciences, 29, 349–358.

    PubMed  Google Scholar 

  • Pollmann, M. M. H., Finkenauer, C., & Begeer, S. (2010). Mediators of the link between autistic traits and relationship satisfaction in a non-clinical sample. Journal of Autism and Developmental Disorders, 40, 470–478.

    PubMed Central  PubMed  Google Scholar 

  • Reiersen, A. M., Constantino, J. N., Grimmer, M., Martin, N. G., & Todd, R. D. (2008). Evidence for shared genetic influences on self-reported ADHD and autistic symptoms in young adult Australian twins. Twin Research and Human Genetics, 11, 579–585.

    PubMed Central  PubMed  Google Scholar 

  • 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  Google Scholar 

  • Robinson, E. B., Koenen, K. C., McCormick, M. C., Munir, K., Hallett, V., Happé, F., et al. (2011). Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5 %, 2.5 %, and 1 %). Archives of General Psychiatry, 68, 1113–1121.

    PubMed Central  PubMed  Google Scholar 

  • Ronald, A. (2006). Quantitative genetic study of autistic-like traits in middle childhood: Evidence from a population twin sample for genetic heterogeneity between the behaviors that characterise autism spectrum conditions. (Unpublished thesis). University of London, London.

    Google Scholar 

  • Ronald, A., Butcher, L. M., Docherty, S., Davis, O. S. P., Schalkwyk, L. C., Craig, I. W., et al. (2010). A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behavior Genetics, 40, 31–45.

    PubMed Central  PubMed  Google Scholar 

  • Ronald, A., Edelson, L. R., Asherson, P., & Saudino, K. J. (2010). Exploring the relationship between autistic-like traits and ADHD behaviors in early childhood: Findings from a community twin study of 2-year-olds. Journal of Abnormal Child Psychology, 38, 185–196.

    PubMed  Google Scholar 

  • Ronald, A., Happé, F., Bolton, P., Butcher, L. M., Price, T. S., Wheelwright, S., et al. (2006). 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.

    PubMed  Google Scholar 

  • Ronald, A., Happé, F., Dworzynski, K., Bolton, P., & Plomin, R. (2010). Exploring the relation between prenatal and neonatal complications and later autistic-like features in a representative community sample of twins. Child Development, 81, 166–182.

    PubMed  Google Scholar 

  • Ronald, A., Happé, F., & Plomin, R. (2005). The genetic relationship between individual differences in social and nonsocial behaviors characteristic of autism. Developmental Science, 8, 444–458.

    PubMed  Google Scholar 

  • Ronald, A., Happé, F., & Plomin, R. (2008). A twin study investigating the genetic and environmental aetiologies of parent, teacher and child ratings of autistic-like traits and their overlap. European Child & Adolescent Psychiatry, 17, 473–483.

    Google Scholar 

  • Ronald, A., Happé, F., Price, T. S., Baron-Cohen, S., & Plomin, R. (2006). Phenotypic and genetic overlap between autistic traits at the extremes of the general population. Journal of the American Academy of Child and Adolescent Psychiatry, 45, 1206–1214.

    PubMed  Google Scholar 

  • 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.

    Google Scholar 

  • Ronald, A., Larsson, H., Anckarsäter, H., & Lichtenstein, P. (2011). A twin study of autism symptoms in Sweden. Molecular Psychiatry, 16, 1039–1047.

    PubMed  Google Scholar 

  • Ronald, A., Simonoff, E., Kuntsi, J., Asherson, P., & Plomin, R. (2008). Evidence for overlapping genetic influences on autistic and ADHD behaviors in a community twin sample. Journal of the American Academy of Child and Adolescent Psychiatry, 49, 535–542.

    Google Scholar 

  • Ronald, A., Viding, E., Happé, F., & Plomin, R. (2006). Individual differences in theory of mind ability in middle childhood and links with verbal ability and autistic traits: A twin study. Social Neuroscience, 1, 412–425.

    PubMed  Google Scholar 

  • 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 & Adolescent Medicine, 163, 907–914.

    Google Scholar 

  • Rutter, M. (1971). The description and classification of infantile autism. In D. W. Churchill (Ed.), Infantile autism. Proceedings of the Indiana University Colloquium (pp. 8–28). Springfield, IL: Chas C Thomas.

    Google Scholar 

  • Rutter, M. (1977). Infantile autism and other child psychoses. In M. Rutter & L. Herov (Eds.), Child psychiatry: Modern approaches. Oxford, England: Blackwell Scientific.

    Google Scholar 

  • Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, 485, 237–241.

    PubMed Central  PubMed  Google Scholar 

  • Sarachana, T., Zhou, R., Chen, G., Manji, H. K., & Hu, V. W. (2010). Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Medicine, 2, 23.

    PubMed Central  PubMed  Google Scholar 

  • Schwichtenberg, A. J., Young, G. S., Sigman, M., Hutman, T., & Ozonoff, S. (2010). Can family affectedness inform infant sibling outcomes of autism spectrum disorders? Journal of Child Psychology and Psychiatry, and Allied Disciplines, 51, 1021–1030.

    PubMed Central  PubMed  Google Scholar 

  • Scourfield, J., Martin, N., Lewis, G., & McGuffin, P. (1999). Heritability of social cognitive skills in children and adolescents. British Journal of Psychiatry, 175, 559–564.

    PubMed  Google Scholar 

  • Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316, 445–449.

    PubMed Central  PubMed  Google Scholar 

  • Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008). Psychiatric disorders in children with autism spectrum disorders: Prevalence, comorbidity, and associated factors in a population-derived sample. Journal of the American Academy of Child and Adolescent Psychiatry, 47, 921–929.

    PubMed  Google Scholar 

  • Skuse, D. H. (2007). Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends in Genetics, 23, 387–395.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 30, 405–416.

    PubMed  Google Scholar 

  • Stilp, R. L. H., 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.

    PubMed Central  PubMed  Google Scholar 

  • Stromswold, K. (2001). The heritability of language: A review and metaanalysis of twin, adoption, and linkage studies. Language: Journal of the Linguistic Society of America, 77, 647–723.

    Google Scholar 

  • Sucksmith, E., Roth, I., & Hoekstra, R. A. (2011). Autistic traits below the clinical threshold: Re-examining the Broader Autism Phenotype in the 21st century. Neuropsychology Review, 21, 360–389.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • Virkud, Y. V., Todd, R. D., Abbacchi, A. M., Zhang, Y., & Constantino, J. N. (2009). Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. American Journal of Medical Genetics. Pat B. Neuropsychiatric Genetics, 150B, 328–334.

    PubMed Central  PubMed  Google Scholar 

  • Visscher, P. M. (2002). Increased rate of twins among affected sib pairs. American Journal of Human Genetics, 71, 995–996; author reply 996–999.

    PubMed Central  PubMed  Google Scholar 

  • Vital, P. M., Ronald, A., Wallace, G. L., & Happé, F. (2009). Relationship between special abilities and autistic-like traits in a large population-based sample of 8-year-olds. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 50, 1093–1101.

    PubMed  Google Scholar 

  • Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459, 528–533.

    PubMed Central  PubMed  Google Scholar 

  • Weisbrot, D. M., Gadow, K. D., DeVincent, C. J., & Pomeroy, J. (2005). The presentation of anxiety in children with pervasive developmental disorders. Journal of Child and Adolescent Psychopharmacology, 15, 477–496.

    PubMed  Google Scholar 

  • Weiss, L. A., Arking, D. E., Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly, M. J., & Chakravarti, A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461, 802–808.

    PubMed Central  PubMed  Google Scholar 

  • Williams, J., Allison, C., Scott, F., Bolton, P., Baron-Cohen, S., Matthews, F., et al. (2008). The Childhood Autism Spectrum Test (CAST): Sex differences. Journal of Autism and Developmental Disorders, 38, 1731–1739.

    PubMed  Google Scholar 

  • Wing, L., & Wing, J. K. (1971). Multiple impairments in early childhood autism. Journal of Autism and Childhood Schizophrenia, 1, 256–266.

    PubMed  Google Scholar 

Download references

Acknowledgement

The authors report no competing interests.

Author information

Authors and Affiliations

  1. Genes Environment Lifespan (GEL) Laboratory, Department of Psychological Sciences, Centre for Brain and Cognitive Development, Birkbeck, University of London, Malet Street, London, WC1E 7HX, UK

    Angelica Ronald Ph.D.

  2. Department of Life, Health and Chemical Sciences, The Open University, Walton Hall, Milton Keynes, MK7 6AA, UK

    Rosa Hoekstra Ph.D.

Authors
  1. Angelica Ronald Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rosa Hoekstra Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Psychology and NeuroScience, University of Colorado, Boulder, Colorado, USA

    Soo Hyun Rhee

  2. Department of Psychological Sciences, University of London, London, United Kingdom

    Angelica Ronald

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Ronald, A., Hoekstra, R. (2014). Progress in Understanding the Causes of Autism Spectrum Disorders and Autistic Traits: Twin Studies from 1977 to the Present Day. In: Rhee, S., Ronald, A. (eds) Behavior Genetics of Psychopathology. Advances in Behavior Genetics, vol 2. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9509-3_2

Download citation

Publish with us

Policies and ethics

Search

Navigation