Journal of Autism and Developmental Disorders

, Volume 30, Issue 6, pp 511–517

Autism and the Cerebellum: Evidence from Tuberous Sclerosis

  • Anna M. Weber
  • John C. Egelhoff
  • J. Mark McKellop
  • David Neal Franz


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Achenbach, T. M. (1991). Child behavior checklist/4-18 and 1991 profile. Burlington: University of Vermont Department of Psychiatry.Google Scholar
  2. Arin, D. M., Bauman, M. I., & Kemper, T. L. (1991). The distribution of Purkinje cell loss in the cerebellum in autism. Neurology, 41(Suppl. 1), 307.Google Scholar
  3. Bauman, M., & Kemper, T. L. (1985). Histoanatomic observations of the brain in early infantile autism. Neurology, 35, 866-874.Google Scholar
  4. Bayley, N. (1993). Bayley Scales of Infant Development. San Antonio: Psychological Corp.Google Scholar
  5. Bristol, M. M., Cohen, D. J., Costello, E. J., et al. (1996). State of the science in autism: Report to the National Institutes of Health. Journal of Autism and Developmental Disorders, 26, 121-154.Google Scholar
  6. Bolton, P. F., & Griffiths, P. D. (1997). Association of tuberous sclerosis of the temporal lobes with autism and atypical autism. Lancet, 349, 392-395.Google Scholar
  7. Courchesne, E. (1989). Neuroanatomical systems involved in infantile autism: The implications of cerebellar abnormalities. In G. Dawson (Ed.), Autism: New perspectives on diagnosis, nature, and treatment (pp. 119-143). New York: Guilford.Google Scholar
  8. Courchesne, E., Saitoh, O., Yeung-Courchesne, R., Press, G. A., Lincoln, A. J., Haas, R. H., Schreibman, L. (1994). Abnormality of cerebellar vermian lobules VI and VII in patients with infantile autism: Identification of hypoplastic and hyperplastic subgroups with MR imaging. American Journal of Roentgenology, 162, 123-130.Google Scholar
  9. Courchesne, E., Townsend, J., Akshoomoff, N. A., et al. (1994). A new finding in autism: Impairment in shifting attention. In S. H. Broman & J. Grafman (Eds.), Atypical cognitive deficits in developmental disorders: Implications for brain function (pp. 101-137). Hillsdale, NJ: L Erlbaum.Google Scholar
  10. Courchesne, E., Townsend, J., & Saitoh, O. (1994). The brain in infantile autism: Posterior fossa structures are abnormal. Neurology, 44, 214-223.Google Scholar
  11. Courchesne, E., Yeung-Courchesne, R., Press, G. A., Hesselink, J. R., & Jernigan, T. L. (1988). Hypoplasia of cerebellar vermal lobules VI and VII in autism. New England Journal of Medicine, 318, 1349-1354.Google Scholar
  12. Damasio, R., & Maurer, R. (1978). A neurological model for childhood autism. Archives of Neurology, 35, 777-786.Google Scholar
  13. Egaas, B., Courchesne, E., & Saitoh, O. (1995). Reduced size of corpus callosum in autism. Archives of Neurology, 52, 794-801.Google Scholar
  14. Filipek, P. A. (1995). Brief Report: neuroimaging in autism: the state of the science 1995. Journal of Autism and Developmental Disorder, 26, 211-215.Google Scholar
  15. Gaffney, G. R., Tsai, L. Y., Kuperman, S., & Minchin, S. (1987). Cerebellar structure in autism. American Journal of Diseases in Children, 141, 1330-1332.Google Scholar
  16. Gillberg, I. C., Gillberg, C., & Ahlsen, G. (1994). Autistic behaviour and attention deficits in tuberous sclerosis: A population-based study. Developmental Medicine and Child Neurology, 36, 50-56.Google Scholar
  17. Gomez, M. R. (1988). Tuberous sclerosis. New York: Raven Press.Google Scholar
  18. Goodman, M., Lamm, S. H., Engel, A., et al. (1997). Cortical tuber count: A biomarker indicating neurologic severity of tuberous sclerosis complex. Journal of Child Neurology, 12, 85-90.Google Scholar
  19. Holttum, J. R., Minshew, N. J., Sanders, R. S., & Phillips, N. E. (1992). Magnetic resonance imaging of the posterior fossa in autism. Biological Psychiatry, 32, 1091-101.Google Scholar
  20. Hunt, A. (1993). Development, behaviour and seizures in 300 cases of tuberous sclerosis. Journal of Intellectual Disabilities Research, 37, 41-51.Google Scholar
  21. Hunt, A., & Shepherd, C. (1993). A prevalence study of autism in tuberous sclerosis. Journal of Autism and Developmental Disorders, 23, 323-339.Google Scholar
  22. 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.Google Scholar
  23. Murakami, J. W., Courchesne, E., Press, G. A., Yeung-Courchesne, R., & Hesselink, J. R. (1989). Reduced cerebellar hemisphere size and its relationship to vermal hypoplasia in autism. Archives of Neurology, 46, 689-694.Google Scholar
  24. Piven, J., & Arndt, S. (1995). The cerebellum and autism. Neurology, 45, 398-402.Google Scholar
  25. Piven, J., Saliba, K. Bailey, J. & Arndt, S. (1997). An MRI study of autism: the cerebellum revisited. Neurology, 49(2): 546-551.Google Scholar
  26. Rapin, I., & Katzman, R. (1998). Neurobiology of autism. Annals of Neurology, 43, 7-14.Google Scholar
  27. Riikonen, R., & Amnell, G. (1981). Psychiatric disorders in children with earlier infantile spasms. Developmental Medicine and Child Neurology, 23, 747-760.Google Scholar
  28. Roach, E. S., Smith, M., Huttenlocher, P., et al. (1992). Report of the diagnostic criteria committee of the National Tuberous Sclerosis Association. Journal of Child Neurology, 7, 221-224.Google Scholar
  29. Roach, E. S., Williams, D. P., & Laster, D. W. (1987). Magnetic resonance imaging in tuberous sclerosis. Archives of Neurology, 44, 301-303.Google Scholar
  30. Rumsey, J. M., et al. (1988). Hemispheric asymmetries, fourth ventricular size, and cerebellar morphology in autism. Journal of Autism Developmental Disorder, 18, 127-137.Google Scholar
  31. Schopler, E., Reichler, R. J., & Renner, B. R. (1988). The Childhood Autism Rating Scale. Los Angeles: Western Psychological Services.Google Scholar
  32. Schopler, E., Reichler, R. J., DeVellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). Journal of Autism and Developmental Disorders, 10, 91-103.Google Scholar
  33. Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992). Autism and tuberous sclerosis. Journal of Autism and Developmental Disorders, 22, 339-355.Google Scholar
  34. Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales. Circle Pines, MN: American Guidance Service.Google Scholar
  35. Wechsler, D. (1989). Wechsler Preschool and Primary Scale of Intelligence-Revised. San Antonio: Psychological Corp.Google Scholar
  36. Wechsler, D. (1991). Wechsler Intelligence Scale for Children (3rd ed.). San Antonio: Psychological Corp.Google Scholar
  37. Wienecke, R., Maize, J. C., Lowy, D. R., et al. (1996). The tuberous sclerosis gene TSC2 is a tumor suppressor gene whose protein product co-localizes with its target RAP1 in the Golgi stacks. Paper presented at the Tuberous Sclerosis Complex International Research Symposium, Bath, UK.Google Scholar
  38. Williams, R. S., Hauser, S. L., Purpura, D. P., DeLong, R., & Swisher, C. N. (1980). Autism and mental retardation: Neuropathological studies performed in four retarded persons with autistic behavior. Archives of Neurology, 37, 749-753.Google Scholar
  39. Wing, L., and Gould, J. (1979). Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. Journal of Autism and Developmental Disabilities, 9, 11-29.Google Scholar
  40. Zilbovicius, M., Garreau, B., Murayama, N., et al. (1993). Cerebellar benzodiazepine receptors (BZR) in childhood autism: A PET study. Society of Neuroscience Abstracts, 19, 790 (abstract).Google Scholar

Copyright information

© Plenum Publishing Corporation 2000

Authors and Affiliations

  • Anna M. Weber
    • 1
  • John C. Egelhoff
    • 2
  • J. Mark McKellop
    • 2
  • David Neal Franz
    • 2
  1. 1.Children's Hospital Medical CenterUniversity of Cincinnati College of MedicineCincinnati
  2. 2.Children's Hospital Medical CenterUniversity of Cincinnati College of MedicineCincinnati

Personalised recommendations