Skip to main content

Behavioral Comparisons in Autistic Individuals from Multiplex and Singleton Families

Journal of Autism and Developmental Disorders volume 33, pages 87–91 (2003)Cite this 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.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  • 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 

  • 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 

  • 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 

  • Folstein, S., & Piven, J. (1991). Etiology of autism: Genetic influences. Pediatrics, 87, 767-773.

    Google Scholar 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • Lotspeich, L. J. (1997). Comparison of autistic behaviors in singleton versus multiplex families [Abstract]. American Journal of Medical Genetics, 32, 570.

    Google Scholar 

  • Lotspeich, L. J., & Ciaranello, R. D. (1993). The neurobiology and genetics of infantile autism. International Review of Neurobiology, 35, 87-129.

    Google Scholar 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • 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 

  • Szatmari, P. (1999). Heterogeneity and the genetics of autism. Journal of Psychiatry and Neuroscience, 24, 159-165.

    Google Scholar 

  • 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 

  • 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 

  • 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 

Download references

Author information

Affiliations

  1. W.S. Hall Psychiatric Institute, Department of Neuropsychiatry, University of South Carolina, Columbia, South Carolina

    Michael L. Cuccaro

  2. Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC, 27710

    Michael L. Cuccaro, Yujun Shao, Meredyth P. Bass, Chantelle M. Wolpert, Shannon L. Donnelly & Margaret A. Pericak-Vance

  3. W.S. Hall Psychiatric Institute, Department of Neuropsychiatry, University of South Carolina, Columbia, South Carolina

    Ruth K. Abramson, Sarah A. Ravan & Harry H. Wright

Authors
  1. Michael L. Cuccaro
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yujun Shao
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Meredyth P. Bass
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ruth K. Abramson
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sarah A. Ravan
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Harry H. Wright
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Chantelle M. Wolpert
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Shannon L. Donnelly
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Margaret A. Pericak-Vance
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Cuccaro, M.L., Shao, Y., Bass, M.P. et al. Behavioral Comparisons in Autistic Individuals from Multiplex and Singleton Families. J Autism Dev Disord 33, 87–91 (2003). https://doi.org/10.1023/A:1022286622534

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1022286622534

  • Autistic disorder
  • MANCOVA, behavior heterogeneity