Journal of Autism and Developmental Disorders

, Volume 39, Issue 8, pp 1197–1210 | Cite as

Relationship Between Symptom Domains in Autism Spectrum Disorders: A Population Based Twin Study

  • Katharina DworzynskiEmail author
  • Francesca Happé
  • Patrick Bolton
  • Angelica Ronald
Original Paper


Factor structure and relationship between core features of autism (social impairments, communication difficulties, and restricted, repetitive behaviours or interests (RRBIs)) were explored in 189 children from the Twins Early Development Study, diagnosed with autistic spectrum disorders (ASDs) using the Development and Wellbeing Assessment (DAWBA; Goodman et al. in J Child Psychol Psyc 41:645–655, 2000). A bottom-up approach (analysis 1) used principal component factor analysis of DAWBA items indicating five factors, the first three mapping on the triad. In analysis 2, applying top-down DSM-IV criteria, correlations between domains were modest, strongest between social and communication difficulties. Cross-twin cross-trait correlations suggested small shared genetic effects between RRBIs and other symptoms. These findings from a clinical sample of twins indicate a fractionation of social/communicative and RRBI symptoms in ASD.


Autism spectrum disorders Symptom domains Twins 



The first author is funded by an Autism Speaks fellowship grant to Dr Francesca Happé. Patrick Bolton is supported by the UK NIHR Biomedical Research Centre for Mental Health at the Institute of Psychiatry, Kings College London and The South London and Maudsley NHS Foundation Trust. The Twins Early Development Study (TEDS) is funded by a Medical Research Council (MRC) program grant G0500079, and the Social Relationships Study is funded by MRC grant G0500870. The authors would like to thank the staff involved in the collection and processing of research information in TEDS. Moreover, we would like to thank all families who have and are still participating in TEDS.


  1. Abrahams, B., & Geschwind, D. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews. Genetics, 9, 341–355. doi: 10.1038/nrg2346.PubMedCrossRefGoogle Scholar
  2. Alarcon, M., Cantor, R., Liu, J., Gilliam, T. C., Geschwind, D., & AGRE Consortium. (2002). Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. American Journal of Human Genetics, 70, 60–71. doi: 10.1086/338241.PubMedCrossRefGoogle Scholar
  3. American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (Vol. 4). Washington, DC: APA.Google Scholar
  4. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., et al. (2006). Prevalence of autism spectrum disorders in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP). Lancet, 368, 210–215. doi: 10.1016/S0140-6736(06)69041-7.PubMedCrossRefGoogle Scholar
  5. Bishop, D. V. M., Maybery, M., Maley, A., Wong, D., Hill, W., & Hallmayer, J. (2004). Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: A study using the Autism-Spectrum Quotient. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 45, 1431–1436. doi: 10.1111/j.1469-7610.2004.00325.x.PubMedCrossRefGoogle Scholar
  6. 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. doi: 10.1111/j.1469-7610.1994.tb02300.x.PubMedCrossRefGoogle Scholar
  7. Boomsma, A., van Lang, N. D., De Jonge, M. V., de Bildt, A. A., Van Engeland, H., & Minderaa, R. B. (2008). A new symptom model for autism cross-validated in an independent sample. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 49, 809–816. doi: 10.1111/j.1469-7610.2008.01897.x.PubMedCrossRefGoogle Scholar
  8. Buxbaum, J. D., Silverman, J. M., Smith, C. J., Kilifarski, M., Reichert, J., Hollander, E., et al. (2001). Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics, 68, 1514–1520. doi: 10.1086/320588.PubMedCrossRefGoogle Scholar
  9. Cattell, R. B. (1966). The scree test for the number of factors. Multivariate Behavioral Research, 1, 629–637.Google Scholar
  10. Constantino, J. N., Gruber, C. P., Davis, S., 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. doi: 10.1111/j.1469-7610.2004.00266.x.PubMedCrossRefGoogle Scholar
  11. 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, 37, 205–216.PubMedGoogle Scholar
  12. Dworzynski, K., Ronald, A., Hayiou-Thomas, M. E., McEwen, F., Happé, F., Bolton, P. F., et al. (2008). Developmental path between language and autistic-like impairments: A twin study. Infant and Child Development, 17, 121–136. doi: 10.1002/icd.536.CrossRefGoogle Scholar
  13. Dworzynski, K., Ronald, A., Hayiou-Thomas, M. E., 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. doi: 10.1080/13682820600939002.CrossRefGoogle Scholar
  14. Georgiades, S., Szatmari, P., Zwaigenbaum, L., Duku, E., Bryson, S., Roberts, W., et al. (2007). Structure of the autism symptom phenotype: A proposed multidimensional model. Journal of the American Academy of Child and Adolescent Psychiatry, 46, 188–196. doi: 10.1097/01.chi.0000242236.90763.7f.PubMedCrossRefGoogle Scholar
  15. Goodman, R., Ford, T., Richards, H., Gatward, R., & Meltzer, H. (2000). The development and well-being assessment: Description and initial validation of an integrated assessment of child and adolescent psychopathology. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 41, 645–655. doi: 10.1111/j.1469-7610.2000.tb02345.x.PubMedCrossRefGoogle Scholar
  16. Green, H., McGinnity, Á., Meltzer, H., Ford, T., & Goodman, R. (2005). Mental health of children and young people in Great Britain. London: The Stationery Office.Google Scholar
  17. Happé, F., & Ronald, A. (2008). The ‘fractionable autism triad’: A review of evidence from behavioural, genetic, cognitive and neural research. Neuropsychology Review, 18(4), 287–304. doi: 10.1007/s11065-008-9076-8.PubMedCrossRefGoogle Scholar
  18. Happé, F., Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for autism. Nature Neuroscience, 9, 1218–1220. doi: 10.1038/nn1770.PubMedCrossRefGoogle Scholar
  19. 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. doi: 10.1007/s10803-008-0538-x.PubMedCrossRefGoogle Scholar
  20. Huber, P. J. (1967). The behavior of maximum likelihood estimates under non-standard conditions (pp. 221–233). Berkeley, CA: University of California Press.Google Scholar
  21. 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, 129, 76–81.CrossRefGoogle Scholar
  22. 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. doi: 10.1111/j.1469-7610.1996.tb01475.x.PubMedCrossRefGoogle Scholar
  23. Lecavalier, L. (2005). An evaluation of the Gilliam Autism Rating Scale. Journal of Autism and Developmental Disorders, 35, 795–805. doi: 10.1007/s10803-005-0025-6.PubMedCrossRefGoogle Scholar
  24. Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism Developmental Disorders, 24, 659–685.CrossRefGoogle Scholar
  25. Mandy, W. P. L., & Skuse, D. H. (2008). What is the association between the social-communication element of autism and repetitive interests, behaviours and activities? Journal of Child Psychology and Psychiatry, and Allied Disciplines, 49, 795–808. doi: 10.1111/j.1469-7610.2008.01911.x.PubMedCrossRefGoogle Scholar
  26. Mazefsky, C. A., Goin-Kochel, R. P., Riley, B. P., Maes, H. H., & The Autism Genetic Resource Exchange Consortium. (2008). Genetic and environmental influences on symptom domains in twins and siblings with autism. Research in Autism Spectrum Disorders, 2, 320–331. doi: 10.1016/j.rasd.2007.08.002.CrossRefGoogle Scholar
  27. Meltzer, H., Gatward, R., Goodman, R., & Ford, T. (2000). Mental health of children and adolescents in Great Britain. London: The Stationery Office.Google Scholar
  28. Miranda-Linne, F. M., & Melin, L. (2002). A factor analytic study of the Autism Behavior Checklist. Journal of Autism and Developmental Disorders, 32, 181–188. doi: 10.1023/A:1015519413133.PubMedCrossRefGoogle Scholar
  29. Oliver, B. R., & Plomin, R. (2007). Twins’ Early Development Study (TEDS): A multivariate, longitudinal genetic investigation of language, cognition and behavior problems from childhood through adolescence. Twin Research and Human Genetics, 10, 96–105. doi: 10.1375/twin.10.1.96.PubMedCrossRefGoogle Scholar
  30. Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couteur, A., Sim, C. H., et al. (1995). Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism. American Journal of Human Genetics, 57, 717–726.PubMedGoogle Scholar
  31. Piven, J., Palmer, P., Landa, R., Santangelo, S., Jacobi, D., & Childress, D. (1997). Personanlity and language characteristics in parents from multiple-incidence autism families. American Journal of Medical Genetics, 74, 398–411. doi: 10.1002/(SICI)1096-8628(19970725)74:4<398::AID-AJMG11>3.0.CO;2-D.PubMedCrossRefGoogle Scholar
  32. Ronald, A., Happé, F., Bolton, P., Butcher, L. M., Price, T., Wheelwright, S., et al. (2006a). 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. doi: 10.1097/01.chi.0000215325.13058.9d.PubMedCrossRefGoogle Scholar
  33. Ronald, A., Happé, F., & Plomin, R. (2005). The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Developmental Science, 8, 444–458. doi: 10.1111/j.1467-7687.2005.00433.x.PubMedCrossRefGoogle Scholar
  34. Ronald, A., Happé, F., Price, T. S., Baron-Cohen, S., & Plomin, R. (2006b). 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. doi: 10.1097/01.chi.0000230165.54117.41.PubMedCrossRefGoogle Scholar
  35. Scott, F. J., Baron-Cohen, S., Bolton, P., & Brayne, C. (2002). The CAST (Childhood Asperger Syndrome Test): Preliminary development of a UK screen for mainstream primary-school-age children. Autism, 6, 9–31. doi: 10.1177/1362361302006001003.PubMedCrossRefGoogle Scholar
  36. Skuse, D. H., Mandy, W. P. L., & Scourfield, J. (2005). Measuring autistic traits: Heritability, reliability and validity of the Social and Communication Disorders Checklist. The British Journal of Psychiatry, 187, 568–572. doi: 10.1192/bjp.187.6.568.PubMedCrossRefGoogle Scholar
  37. Skuse, D. H., Mandy, W. P. L., Steer, C., Miller, L., Goodman, R., Lawrence, K., et al. (2009). Social communication competence and functional adaptation in a general population of children: Preliminary evidence for sex-by-verbal IQ differential risk. Journal of the American Academy of Child and Adolescent Psychiatry, 48(2), 128–137. doi: 10.1097/CHI.0b013e31819176b8.CrossRefGoogle Scholar
  38. Sung, Y. J., Dawson, G., Munson, J., Estes, A., Schellenberg, G. D., & Wijsman, E. M. (2005). Genetic investigation of quantitative traits related to autism: Use of multivariate polygenic models with ascertainment adjustment. American Journal of Human Genetics, 76, 68–81. doi: 10.1086/426951.PubMedCrossRefGoogle Scholar
  39. Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X. Q., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319–328. doi: 10.1038/ng1985.PubMedCrossRefGoogle Scholar
  40. Tadevosyan-Leyfer, O., Dowd, M., Mankoski, R., Winklosky, B., Putnam, S., McGrath, L., et al. (2003). A principal components analysis of the Autism Diagnostic Interview-Revised. Journal of the American Academy of Child and Adolescent Psychiatry, 42, 864–872. doi: 10.1097/01.CHI.0000046870.56865.90.PubMedCrossRefGoogle Scholar
  41. Trouton, A., Spinath, F. M., & Plomin, R. (2002). Twins early development study (TEDS): A multivariate, longitudinal genetic investigation of language, cognition and behavior problems in childhood. Twin Research, 5, 444–448. doi: 10.1375/136905202320906255.PubMedCrossRefGoogle Scholar
  42. van Lang, N. D., Boomsma, A., Sytema, S., de Bildt, A. A., Kraijer, D. W., Ketelaars, C., et al. (2006). Structural equation analysis of a hypothesised symptom model in the autism spectrum. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 47, 37–44. doi: 10.1111/j.1469-7610.2005.01434.x.PubMedCrossRefGoogle Scholar
  43. Walker, A., Maher, J., Coulthard, M., Goddard, E., & Thomas, M. (2001). Living in Britain: Results from the 2000/2001 General Household Survey. London: Stationery Office.Google Scholar
  44. World Health Organization. (1994). International classification of diseases (10th ed.). Geneva: World Health Organization.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Katharina Dworzynski
    • 1
    Email author
  • Francesca Happé
    • 1
  • Patrick Bolton
    • 1
  • Angelica Ronald
    • 1
    • 2
  1. 1.Social, Genetic and Developmental Psychiatry Centre (SGDP), Institute of PsychiatryKing’s College LondonLondonUK
  2. 2.Birkbeck CollegeLondonUK

Personalised recommendations