Journal of Autism and Developmental Disorders

, Volume 41, Issue 3, pp 332–340 | Cite as

Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample

  • Jeremy R. Parr
  • Ann Le Couteur
  • Gillian Baird
  • Michael Rutter
  • Andrew Pickles
  • Eric Fombonne
  • Anthony J. Bailey
  • The International Molecular Genetic Study of Autism Consortium (IMGSAC)
Original Paper

Abstract

The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself.

Keywords

ASD Regression Genetics Language Development Concordance 

Supplementary material

References

  1. Baird, G., Charman, T., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., et al. (2008). Regression, developmental trajectory and associated problems in disorders in the autism spectrum: The SNAP study. Journal of Autism and Developmental Disorders, 38, 1827–1836.CrossRefPubMedGoogle Scholar
  2. Cook, E., Jr., Perry, B., Dawson, G., Wainwright, M., & Leventhal, B. (1993). Receptor inhibition by immunoglobulins: Specific inhibition by autistic children, their relatives, and control subjects. Journal of Autism and Developmental Disorders, 23, 67–78.CrossRefPubMedGoogle Scholar
  3. Dunn, L., & Dunn, L. (1997). Peabody picture vocabulary test. Circle Pines, MN: American Guidance Service.Google Scholar
  4. Dunn, L., Dunn, L., Whetton, C., & Pintilie, D. (1982). British picture vocabulary scale. Windsor, UK: NFER-Nelson.Google Scholar
  5. Fombonne, E., & Chakrabarti, S. (2001). No evidence for a new variant of measles-mumps-rubella-induced autism. Pediatrics, 108, E58.CrossRefPubMedGoogle Scholar
  6. Goldberg, W., Osann, K., Filipek, P., Laulhere, T., Jarvis, K., Modahl, C., et al. (2003). Language and other regression: Assessment and timing. Journal of Autism and Developmental Disorders, 33, 607–616.CrossRefPubMedGoogle Scholar
  7. International Molecular Genetic Study of Autism Consortium. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics, 7, 571–578.CrossRefGoogle Scholar
  8. International Molecular Genetic Study of Autism Consortium (IMGSAC). (2001). Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Human Molecular Genetics, 10, 973–982.CrossRefGoogle Scholar
  9. Kurita, H. (1985). Infantile autism with speech loss before the age of thirty months. Journal of the American Academy of Child Psychiatry, 24, 191–196.CrossRefPubMedGoogle Scholar
  10. Kurita, H., Kita, M., & Miyake, Y. (1992). A comparative study of development and symptoms among disintegrative psychosis and infantile autism with and without speech loss. Journal of Autism and Developmental Disorders, 22, 175–188.CrossRefPubMedGoogle Scholar
  11. Lainhart, J., Ozonoff, S., Coon, H., Krasny, L., Dinh, E., Nice, J., et al. (2002). Autism, regression, and the broader autism phenotype. American Journal of Medical Genetics, 113, 231–237.CrossRefPubMedGoogle Scholar
  12. Landa, R., Holman, K., & Garrett-Mayer, E. (2007). Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Archives of General Psychiatry, 64, 853–864.CrossRefPubMedGoogle Scholar
  13. Lord, C., Risi, S., Lambrecht, L., Cook, E., Jr., Leventhal, B., DiLavore, P., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorder, 30, 205–223.CrossRefGoogle Scholar
  14. 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 and Developmental Disorders, 24, 659–685.CrossRefPubMedGoogle Scholar
  15. Lord, C., Shulman, C., & DiLavore, P. (2004). Regression and word loss in autistic spectrum disorders. Journal of Child Psychology and Psychiatry, 45, 936–955.CrossRefPubMedGoogle Scholar
  16. Luyster, R., Richler, J., Risi, S., Hsu, W., Dawson, G., Bernier, R., et al. (2005). Early regression in social communication in autism spectrum disorders: A CPEA Study. Developmental Neuropsychology, 27, 311–336.CrossRefPubMedGoogle Scholar
  17. Meilleur, A. A., & Fombonne, E. (2009). Regression of language and non-language skills in pervasive developmental disorders. Journal of Intellectual Disability Research, 53, 115–123.CrossRefPubMedGoogle Scholar
  18. Molloy, C. A., Keddache, M., & Martin, L. J. (2005). Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Molecular Psychiatry, 10, 741–746.CrossRefPubMedGoogle Scholar
  19. Mullen, E. M. (1995). Mullens scales of early learning. Circle Pines, MN: American Guidance Service.Google Scholar
  20. Parr, J. R., Lamb, J. A., Bailey, A. J., & Monaco, A. P. (2006). Response to paper by Molloy et al.: Linkage on 21q and 7q in autism subset with regression. Molecular Psychiatry, 11, 617–619.CrossRefPubMedGoogle Scholar
  21. Pickles, A., Simonoff, E., Conti-Ramsden, G., Falcaro, M., Simkin, Z., Charman, T., et al. (2009). Loss of language in early development of autism and specific language impairment. Journal of Child Psychology and Psychiatry, 50, 843–852.CrossRefPubMedGoogle Scholar
  22. Raven, J. (1989). Standard progressive matrices. Victoria: Australian Council for Educational Research.Google Scholar
  23. Richler, J., Luyster, R., Risi, S., Hsu, W. L., Dawson, G., Bernier, R., et al. (2006). Is there a ‘regressive phenotype’ of autism spectrum disorder associated with the measles-mumps-rubella vaccine? A CPEA study. Journal of Autism and Developmental Disorder, 36, 299–316.CrossRefGoogle Scholar
  24. Rogers, S. J. (2004). Developmental regression in autism spectrum disorders. Mental Retardation & Developmental Disabilities Research Reviews, 10, 139–143.CrossRefGoogle Scholar
  25. Rogers, S. J., & DiLalla, D. L. (1990). Age of symptom onset in young children with pervasive developmental disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 29, 863–872.CrossRefPubMedGoogle Scholar
  26. Royall, R. M. (1986). Model robust confidence intervals using maximum likelihood estimators. International Statistical Review, 54, 221–226.CrossRefGoogle Scholar
  27. Shinnar, S., Rapin, I., Arnold, S., Tuchman, R. F., Shulman, L., Ballaban-Gil, K., et al. (2001). Language regression in childhood. Pediatric Neurology, 24, 183–189.CrossRefPubMedGoogle Scholar
  28. Sparrow, S., Balla, D., & Cicchetti, D. (1984). Vineland adaptive behaviour scales American Guidance Service. MN: Circle Pines.Google Scholar
  29. Tuchman, R. F., Rapin, I., & Shinnar, S. (1991). Autistic and dysphasic children. I: Clinical characteristics. Pediatrics, 88, 1211–1218.PubMedGoogle Scholar
  30. Van Gent, T., Heijnen, C. J., & Treffers, P. D. (1997). Autism and the immune system. Journal of Child Psychology and Psychiatry, 38, 337–349.CrossRefPubMedGoogle Scholar
  31. Warren, R. P., Singh, V. K., Averett, R. E., Odell, J. D., Maciulis, A., Burger, R. A., et al. (1996). Immunogenetic studies in autism and related disorders. Molecular and Chemical Neuropathology, 28, 77–81.CrossRefPubMedGoogle Scholar
  32. Werner, E., Dawson, G., Munson, J., & Osterling, J. (2005). Variation in early developmental course in autism and its relation with behavioral outcome at 3–4 years of age. Journal of Autism and Developmental Disorders, 35, 337–350.CrossRefPubMedGoogle Scholar
  33. Wilson, S., Djukic, A., Shinnar, S., Dharmani, C., & Rapin, I. (2003). Clinical characteristics of language regression in children. Developmental Medicine and Child Neurology, 45, 508–514.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Jeremy R. Parr
    • 1
    • 7
  • Ann Le Couteur
    • 3
  • Gillian Baird
    • 4
  • Michael Rutter
    • 2
  • Andrew Pickles
    • 5
  • Eric Fombonne
    • 6
  • Anthony J. Bailey
    • 1
  • The International Molecular Genetic Study of Autism Consortium (IMGSAC)
    • 8
  1. 1.University Section of Child and Adolescent PsychiatryUniversity of OxfordOxfordUK
  2. 2.MRC Social Genetic and Developmental Psychiatry Centre, Institute of PsychiatryKing’s CollegeLondonUK
  3. 3.Institute of Health and SocietyNewcastle UniversityNewcastle upon TyneUK
  4. 4.Guys and St Thomas’ NHS Foundation TrustLondonUK
  5. 5.Community Based MedicineUniversity of ManchesterManchesterUK
  6. 6.Division of PsychiatryMcGill UniversityMontrealCanada
  7. 7.Institute of NeuroscienceNewcastle UniversityNewcastle upon TyneUK
  8. 8.

Personalised recommendations