A prevalence study of autism in tuberous sclerosis

  • Ann Hunt
  • Charles Shepherd


An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, has socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his, normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.


Mental Retardation Prevalence Study Developmental Disorder Tuberous Sclerosis Pervasive Developmental Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Bruce, A. (1967). Infantile autism.New Zeland Medical Journal, 66, 895–897.Google Scholar
  2. Coleman, M., & Gillberg, C. (1985).The biology of the autistic Syndromes. New York: Praeger.Google Scholar
  3. Connor, J. M. (1990). Epidemiology and genetic approaches in tuberous sclerosis. In Y. Ishibasi and Y. Hori (Eds.),Tuberous sclerosis and neurofibromatosis: Epidemiology, pathophysiology, biology and management (pp. 55–62), Amsterdam: Elsevier.Google Scholar
  4. Critchley, M., & Earl, C. J. C. (1932). Tuberous sclerosis and allied conditions.Brain, 55, 311–346.Google Scholar
  5. Dick, A. R., Ziegler, D. K. (1967). Tuberous sclerosis: A report of 2 cases.Journal of the Kansas Medical Society, 68, 102.PubMedGoogle Scholar
  6. Fisher, W., Kerbeshian, J., Burd, L., & Kolstoe, P. (1986). Tuberous sclerosis and autism.Developmental Medicine and Child Neurology, 28, 814–823.PubMedGoogle Scholar
  7. Gomez, M. R. (1988).Tuberous sclerosis (pp. 9–19). New York: Raven.Google Scholar
  8. Houser, O. W., & Nixon, J. R. (1988). Central nervous system imaging. In M. R. Gomez (Ed.),Tuberous sclerosis (pp. 51–62). New York: Raven.Google Scholar
  9. Hunt, A. (1983). Tuberous sclerosis: A survey of 97 cases. III. Family aspects.Developmental Medicine and Child Neurology, 25, 350–352.PubMedGoogle Scholar
  10. Hunt, A., & Dennis, J. (1987). Psychiatric disorder among children with tuberous sclerosis.Developmental Medicine and Child Neurology, 29, 190–198.PubMedGoogle Scholar
  11. Jambaque, I., Cusmai, R., Curatolo, P., Cortesi, F., Perrot, C., & Dulac, O. (1991). Neuro psychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings.Developmental Medicine and Child Neurology, 33, 698–705.PubMedGoogle Scholar
  12. Kanner L. (1943). Autistic disturbance of affective contact.Nervous Child, 2, 217–250.Google Scholar
  13. Lawlor, B. A., & Maurer, R. G. (1987). Tuberous sclerosis and the autistic syndrome.British Journal of Psychiatry, 150, 396–397.PubMedGoogle Scholar
  14. Maki, Y., Enomoto, T., Maruyama, H., & Maekawa, K. (1979). Computed tomography in tuberous sclerosis.Brain & Development, 1, 38–48.Google Scholar
  15. Mansheim, P. (1979). Tuberous sclerosis and autistic behavior.Journal of Clinical Psychiatry, 40, 97–98.PubMedGoogle Scholar
  16. Quine, L. (1991). Sleep problems with mental handicap.Journal of Mental Deficiency Research, 35, 349–354.Google Scholar
  17. Riikonen, R., & Amnell, G. (1981). Psychiatric disorder in children with earlier infantile spasms.Developmental Medicine and Child Neurology, 23, 747–760.PubMedGoogle Scholar
  18. Rutter, M., & Hersov, L. (1977).Child Psychiatry: Modem approaches. Oxford. Blackwell.Google Scholar
  19. Sampson, J. R., Scahill, S. J., Stephenson, J. B. P., Mann, L., & Connor, J. M. (1989). Genetic aspects of tuberous sclerosis in the West of Scotland.Journal of Medical Genetics, 26, 28–31.PubMedGoogle Scholar
  20. Shepherd, C. W., Beard M., Gomez, M. R., Kurland, L. T., & Whisnant, J. P. (1991). Tuberous sclerosis complex in Olmsted County, Minnesota, 1950–1989.Archives of Neurology, 48, 400–401.PubMedGoogle Scholar
  21. Steffanson, K., Wollmann., R. L., & Huttenlocher, P. R. (1988). Lineages of cells in the central nervous system. In M. R. Gomez (Ed.),Tuberous sclerosis (pp. 75–87). New York: Raven.Google Scholar
  22. Taft, L., & Cohen, H. (1971). Hypsarrhythmia and infantile autism: A clinical report.Journal of Autism and Childhood Schizophrenia, 1, 337–349.PubMedGoogle Scholar
  23. Wakschlag, L. S., Cook, E. H., Hammond, D. N., Leventhal, B. L., & Hopkins, J. (1991). Autism and tuberous sclerosis.Journal of Autism and Developmental Disorders, 21, 95–97.PubMedGoogle Scholar
  24. Wing, L., & Gould, J. (1978). Systematic recording of behaviors and skills of retarded and psychotic children.Journal of Autism and Childhood Schizophrenia, 8, 79–97.PubMedGoogle Scholar

Copyright information

© Plenum Publishing Corporation 1993

Authors and Affiliations

  • Ann Hunt
    • 2
  • Charles Shepherd
    • 1
  1. 1.Royal Hospital for Sick ChildrenGlasgow
  2. 2.Section of Child & Adolescent PsychiatryUniversity of Oxford, Park Hospital for ChildrenOxfordEngland

Personalised recommendations