Journal of Autism and Developmental Disorders

, Volume 33, Issue 1, pp 87–91 | Cite as

Behavioral Comparisons in Autistic Individuals from Multiplex and Singleton Families

  • Michael L. Cuccaro
  • Yujun Shao
  • Meredyth P. Bass
  • Ruth K. Abramson
  • Sarah A. Ravan
  • Harry H. Wright
  • Chantelle M. Wolpert
  • Shannon L. Donnelly
  • Margaret A. Pericak-Vance
Article

Abstract

Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects we have ascertained a series of AD families: Sporadic (SP, 1 known AD case per family and no known history of AD) and multiplex (MP, ≥2 cases per family). The underlying etiology of both family types is unknown. It is possible that MP families may constitute a unique subset of families in which the disease phenotype is more likely due to genetic factors. Clinical differences between the two family types could represent underlying genetic heterogeneity. We examined ADI-R data for 69 probands from MP families and 88 from SP families in order to compare and contrast the clinical phenotypes for each group as a function of verbal versus nonverbal status. Multivariate analysis controlling for covariates of age at examination, gender, and race (MANCOVA) revealed no differences between either the verbal or nonverbal MP and SP groups for the three ADI-R area scores: social interaction, communication, and restricted/repetitive interests or behaviors. These data failed to find clinical heterogeneity between MP and SP family types. This supports previous work that indicated that autism features are not useful as tools to index genetic heterogeneity. Thus, although there may be different underlying etiologic mechanisms in the SP and MP probands, there are no distinct behavioral patterns associated with probands from MP families versus SP families. These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD.

Autistic disorder MANCOVA, behavior heterogeneity 

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References

  1. Bailey, A., LeCouteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63-77.Google Scholar
  2. Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993). Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science, 261, 921-923.Google Scholar
  3. DiLavore, P., Lord, C., & Rutter, M. (1995). The Pre-Linguistic Autism Diagnostic Observation Schedule. Journal of Autism and Developmental Disorders, 25, 355-379.Google Scholar
  4. Folstein, S., & Piven, J. (1991). Etiology of autism: Genetic influences. Pediatrics, 87, 767-773.Google Scholar
  5. Folstein, S., & Rutter, M. (1977). Infantile autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18, 297-321.Google Scholar
  6. Hanson, D. R., & Gottesman, I. (1976). The genetics, if any of infantile autism and childhood schizophrenia. Journal of Autism and Developmental Disorders, 6, 209-234.Google Scholar
  7. LeCouteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, Sl, Gottesman, I., & Rutter, M. (1996). A broader phenotype of autism: The clinical spectrum in twins. Journal of Child Psychology and Psychiatry, 37, 785-801.Google Scholar
  8. Lord, C., Pickles, A., McLennan, J., Rutter, M., Bregman, J., Folstein, S., Fombonne, E., Leboyer, M., & Minshew, N. (1997). Diagnosing autism: Analyses of data from the Autism Diagnostic Interview. Journal of Autism and Developmental Disorders, 27, 501-517.Google Scholar
  9. Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989). Autism Diagnostic Observation Schedule: A standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders, 19, 185-212.Google Scholar
  10. Lord, C., Rutter, M., & LeCouteur, A. (1994). Autism Diagnostic Interview—Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorder. Journal of Autism and Developmental Disorders, 24, 659-685.Google Scholar
  11. Lotspeich, L. J. (1997). Comparison of autistic behaviors in singleton versus multiplex families [Abstract]. American Journal of Medical Genetics, 32, 570.Google Scholar
  12. Lotspeich, L. J., & Ciaranello, R. D. (1993). The neurobiology and genetics of infantile autism. International Review of Neurobiology, 35, 87-129.Google Scholar
  13. Maclean, J. E., Szatmari, P. B., Jones, M. B., Bryson, S. E., Mahoney, W. J., Bartolucci, G., & Tuff, L. (1999). Familial factors influence level of functioning in pervasive developmental disorder. Journal of the American Academy of Child and Adolescence Psychiatry, 38, 746-753.Google Scholar
  14. Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couteur, A., Sim, C. H., & Rutter, M. (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.Google Scholar
  15. Piven, J., Palmer, P., Jacobi, D., Childress, D., & Arndt, S. (1997). The broader autism phenotype: Evidence from a family study of multiple-incidence autism families. American Journal of Psychiatry, 154, 185-190.Google Scholar
  16. Piven, J., Palmer, P., Landa, R., Santangelo, S., Jacobi, D., & Childress, D. (1997). Personality and language characteristics in parents from multiple-incidence autism families. American Journal of Medical Genetics, 74, 398-411.Google Scholar
  17. Robertson, J. M., Tanguay, P. E., L'Ecuyer, S., Sims, A., & Waltrip, C. (1999). Domains of social communication handicap in autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 738-745.Google Scholar
  18. Rutter, M., Bolton, P., Harrington, R., Le Couteur, A., Macdonald, H., & Simonoff, E. J. (1990). Genetic factors in child psychiatric disorders: I. A review of research strategies. Child Psychology and Psychiatry, 31, 3-37.Google Scholar
  19. Saunders, A. M., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Pericak-Vance, M. A., Joo, S. H., Rosi, B. L., Gusella, J. F., Crapper-MacLachlan, D. R., Alberts, M. J., Hulette, C., Crain, B., Goldgaber, D., & Roses, A. D. (1993). Association of apolipoprotein E allele ∈4 with lateonset familial and sporadic Alzheimer's disease. Neurology, 43, 1467-1472.Google Scholar
  20. Smalley, S. L. Asarnow, R. F., & Spence, M. A. (1988). Autism and genetics: A decade of research. Archives of General Psychiatry, 45, 953-961.Google Scholar
  21. Spiker, D., Lotspeich, L., Kraemer, H. C., Hallmayer, J., McMahon, W., Petersen, P. B., Nicholas, P., Pingree, C., Wiese-Slater, S., Chiotti, C., Wong, D. L., Dimicelli, S., Ritvo, E., Cavalli-Sforza, L. L., & Ciaranello, R. D. (1994). Genetics of autism: Characteristics of affected and unaffected children from 37 multiplex families. American Journal of Medical Genetics, 54, 27-35.Google Scholar
  22. Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. Journal of Child Psychology and Psychiatry, 30, 405-416.Google Scholar
  23. Szatmari, P. (1999). Heterogeneity and the genetics of autism. Journal of Psychiatry and Neuroscience, 24, 159-165.Google Scholar
  24. Szatmari, P. B., Jones, M. B., & Holden, J. (1994). High phenotypic correlations among siblings with autism and pervasive developmental disorder (PDD). American Journal of Medical Genetics, 67, 354-360.Google Scholar
  25. Tanguay, P. E., Robertson, J. M., & Derrick, A. M. (1998). A dimensional classification of autism spectrum disorder by social-communication domains. Journal of the American Academy of Child and Adolescence Psychiatry, 37, 271-277.Google Scholar
  26. Wing, L. & Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. Journal of Autism and Developmental Disorders, 9, 11-29.Google Scholar

Copyright information

© Plenum Publishing Corporation 2003

Authors and Affiliations

  • Michael L. Cuccaro
    • 1
    • 2
  • Yujun Shao
    • 2
  • Meredyth P. Bass
    • 2
  • Ruth K. Abramson
    • 3
  • Sarah A. Ravan
    • 3
  • Harry H. Wright
    • 3
  • Chantelle M. Wolpert
    • 2
  • Shannon L. Donnelly
    • 2
  • Margaret A. Pericak-Vance
    • 2
  1. 1.W.S. Hall Psychiatric Institute, Department of NeuropsychiatryUniversity of South CarolinaColumbia
  2. 2.Center for Human GeneticsDuke University Medical CenterDurham
  3. 3.W.S. Hall Psychiatric Institute, Department of NeuropsychiatryUniversity of South CarolinaColumbia

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