Journal of Autism and Developmental Disorders

, Volume 30, Issue 2, pp 121–126 | Cite as

Case Report: High Functioning Autism and Childhood Disintegrative Disorder in Half Brothers

  • L. Zwaigenbaum
  • P. Szatmari
  • W. Mahoney
  • S. Bryson
  • G. Bartolucci
  • J. MacLean
Article

Abstract

Childhood Disintegrative Disorder (CDD) is grouped with autism as a subtype of Pervasive Developmental Disorder (PDD) in ICD-10 and DSM-IV. This is the first report of autism and CDD cosegregating within a sibship. J. P. and M. P. are half-brothers with the same mother. J. P. is an 18-year-old with impairments in communication, social reciprocity, and stereotypies and was diagnosed with autism. M. P. is a 7-year-old who developed normally to 2 years 4 months. He then underwent a profound regression, becoming nonverbal and socially withdrawn, and lost adaptive skills. Investigations did not reveal any neurodegenerative process. M. P. was diagnosed with CDD. The rarity of the two conditions suggests a shared transmissible mechanism. The implications for autism/PDD genetic studies are discussed.

Childhood disintegrative disorder autism half-brothers 

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REFERENCES

  1. American Psychiatric Association. (1980). Diagnostic and statistical manual of mental disorders (3rd ed.). Washington, DC: Author.Google Scholar
  2. American Psychiatric Association. (1987). Diagnostic and statistical manual of mental disorders (3rd ed. Rev). Washington, DC: Author.Google Scholar
  3. American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: Author.Google Scholar
  4. Bailey, A., Le Couteur, 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
  5. Bailey, A., Palferman, S., Heavey, L., & Le Couteur, A. (1998). Autism: The phenotype in relatives. Journal of Autism and Developmental Disorders, 28, 369–392.Google Scholar
  6. Bolton, P., MacDonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A., & Rutter, M. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry, 35, 877–900.Google Scholar
  7. Burd, L., Fisher, W., & Kerbeshian, J. (1989). Pervasive desintegrative disorder: Are Rett syndrome and Heller dementia dementia infantilis subtypes? Developmental Medicine and Child Neurology, 31, 609–616.Google Scholar
  8. Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., & Courchesne, E. (1998). Linkage-disequilibrium mapping of autistic disorder, with 15q11–13 markers. American Journal of Human Genetics, 62, 1077–1083.Google Scholar
  9. Corbett, J. (1987). Development, disintegration, and dementia. Journal of Mental Deficiency Research, 31, 349–356.Google Scholar
  10. 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
  11. Heller, T. (1908). Ñber dementia infantilis: Verblödungsprozess im kindesalter. Zeitschrift fï r die Erforschung und Begandlung des Jugendlichen Schwachsinns, 2, 17–28.Google Scholar
  12. 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.Google Scholar
  13. Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.Google Scholar
  14. Krug, D.A., Arick, J., & Almond, P. (1980). Behavioral Checklist for identifying severely handicapped individuals with high levels of autistic behavior. Journal of Child Psychology and Psychiatry, 21, 221–229.Google Scholar
  15. Kurita, H. (1985). Infantile autism with speech loss before the age of thirty months. Journal of the American Academy of Child and Adolescent Psychiatry, 24, 191–196.Google Scholar
  16. 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.Google Scholar
  17. Kurita, H. (1988). The concept and nosology of Heller's syndrome: Review of articles and report of two cases. Japanese Journal of Psychiatry and Neurology, 42, 785–793.Google Scholar
  18. Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., 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
  19. Levine, M. N. (1986). Leiter International Performance Scale: A handbook. (Arthur adaptation of the Leiter International Performance Scale: A handbook.) Los Angeles: Western Psychological Services.Google Scholar
  20. Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawmood, L, & Schopler, E. (1989). Autism Diagnostic Observation Schedule: A standardized observation of communication and social behavior. Journal of Autism and Developmental Disorders, 19, 185–212.Google Scholar
  21. 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, 659–687.Google Scholar
  22. MacLean J., Szatmari P., Jones, M. B., Bryson, S. E., Tuff, L., Bartolucci, G., & Mahoney, W. J (1999). Variable expressivity in affected siblings with PDD: Evidence for genetic heterogeneity. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 746–753. Google Scholar
  23. Mahoney, W. J., Szatmari, P., MacLean, J. E., Bryson, S. E., Bartolucci, G., Walter, S. D., Jones, M. B., & Zwaigenbaum, L. (1998). Reliability and accuracy of differentiating pervasive developmental disorder subtypes. Journal of the American Academy of Child and Adolescent Psychiatry, 37, 278–285.Google Scholar
  24. Ritvo, E. R., Freeman. B. J., Sason-Brothers, A., Mo, A., Ritvo, A. M. (1985). Concordance for the syndrome of autism in forty pairs of affected twins. American Journal of Psychiatry, 142, 74–77.Google Scholar
  25. Sparrow, S. S., Balla, D., & Cicchetti D. (1984). Vineland Adaptive Behavior Scales (Survey Form). Circle Pines, MN: American Guidance Service.Google Scholar
  26. Steffenburg, S., Gillberg, G., Hellgren, L., Andersson, L., Gillberg, I. C., Jackobsson, 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
  27. Stern, J. S., & Robertson, M. M. (1997). Tics associated with autistic and pervasive developmental disorders. Neurology Clinics, 15, 345–355.Google Scholar
  28. Szatmari, P., Jones, M. B., Holden, J., Bryson, S., Mahoney, W., Tuff, L., MacLean, J., White, B., Bartolucci, G., Schutz, C., Robinson, P., & Hoult, L. (1996). High phenotypic correlations among siblings with autism and pervasive developmental disorders. American Journal of Medical Genetics (Neuropsychiatric Genetics), 67, 354–360.Google Scholar
  29. Szatmari P., Jones, M. B., Zwaigenbaum, L., & MacLean, J. E. (1998). Genetics of autism: Overview and new directions. Journal of Autism and Developmental Disorders, 28, 369–368.Google Scholar
  30. Szatmari, P., Jones, M. B., MacLean J. E., Zwaigenbaum, L, Bryson, S. E., Tuff, L., Bartolucci, G., & Mahoney, W. J. (1999). Screening for social-communication impairments in collateral relatives with Pervasive Developmental Disorder. Manuscript submitted for publication.Google Scholar
  31. Volkmar, F. R. (1992). Childhood disintegrative disorder: Issues for DSM IV. Journal of Autism and Developmental Disorders, 22, 625–642.Google Scholar
  32. Volkmar, F. R., & Cohen, D. J. (1989). Disintegrative disorder or “late onset” autism? Journal of Child Psychology and Psychiatry, 30, 717–724.Google Scholar
  33. Volkmar, F. R., & Rutter, M. (1995). Childhood disintegrative disorder: Results of the DSM IV autism field trial. Journal of the American Academy of Child and Adolescent Psychiatry, 34, 1092–1095.Google Scholar
  34. Wechsler, D. (1967). Manual for the Wechsler Preschool and Primary Scale of Intelligence. New York: Psychological Corp.Google Scholar
  35. Wechsler, D. (1974). Manual for the Wechsler Intelligence Scale for Children-Revised. New York: Psychological Corp.Google Scholar
  36. Wechsler, D. (1981). WAIS-R Manual for the Wechsler Adult Intelligence Scale-Revised. New York: Psychological Corp.Google Scholar
  37. World Health Organization. (1992). The ICD-10 classification of mental and behavioral disorders-clinical descriptions and diagnostic guidelines. Geneva: Author.Google Scholar

Copyright information

© Plenum Publishing Corporation 2000

Authors and Affiliations

  • L. Zwaigenbaum
    • 1
  • P. Szatmari
    • 2
  • W. Mahoney
    • 3
  • S. Bryson
    • 4
  • G. Bartolucci
    • 2
  • J. MacLean
    • 2
  1. 1.Department of PediatricsMcMaster UniversityHamiltonCanada
  2. 2.Department of PsychiatryMcMaster UniversityHamiltonCanada
  3. 3.Department of PediatricsMcMaster UniversityHamiltonCanada
  4. 4.Department of PsychologyYork UniversityNorth YorkCanada

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