Abstract
The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
Similar content being viewed by others
REFERENCES
Abramson, R. K., Wright, H. H., Cuccaro, M. L., Lawrence, L. G., Babb, S., Pencarinha, D., Marsteller, F., & Harris, E. C. (1992). Biological liability in families with autism. Journal of the American Academy of Child and Adolescent Psychiatry, 31, 370–371.
American Psychological Association (1987). Diagnostic and statistical manual of mental disorders (3rd ed. rev.). Washington, DC: Author.
American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: Author.
Chiron, C., Dulac, O., Beaumont, D., Palacios, L., Pajot, N., & Mumford, J. (1991). Therapeutic trial of vigabatrin in refractory infantile spasms. Journal of Child Neurology, 6, 2852–2859.
DeLong, G. R., & Dwyer, J. T. (1988). Correlation of family history with specific autistic sub-groups: Asperger's syndrome and bipolar affective disease. Journal of Autism and Developmental Disorders, 18, 593–600.
European Chromosome 16 Tuberous Sclerosis Consortium. (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell, 75, 1305–1315.
Gillberg, I. C., Gillberg, C., & Ahlsen, G. (1994). Autistic behavior and attention deficits in tuberous sclerosis: A population-based study. Developmental Medicine and Child Neurology, 36, 50–56.
Gomez, M. R. (1988). Tuberous sclerosis (2nd ed.). New York: Raven Press.
Gomez, M. R. (1991). Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. In W. G. Johnson & M. R. Gomez (Eds.), Tuberous sclerosis and allied disorders (Vol. 615). New York: New York Academy of Sciences.
Haines, S. T., & Casto, D. T. (1994). Treatment of infantile spasms. Annals of Pharmacotherapy, 28, 779–791.
Hunt, A., & Dennis, J. (1987). Psychiatric disorder among children with tuberous sclerosis. Developmental Medicine and Child Neurology, 29, 190–198.
Hunt, A., & Shepherd, C. (1993). A prevalence study of autism in tuberous sclerosis. Journal of Autism and Developmental Disorders, 23, 323–340.
Kandt, R. S., Haines, J. L., Smith, M., et al. (1992). Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genetics, 2, 37–41.
Kaplan, H. I., & Sadock, B. J. (Eds.). (1991). Synopsis of psychiatry: Behavioral sciences clinical psychiatry (6th ed.). Baltimore: Williams and Wilkins.
Le Couteur, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holdgrafer, M., & McLennan, J. (1989). Autism diagnostic interview: A standardized investigator-based instrument. Journal of Autism and Developmental Disorders, 19, 363–386.
Lord, C., Rutter, M., Goode, S., Heemsbergen, S., Jordan, J., 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.
Lord, C., Rutter, M., & Le Couteur, A. (1994). 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, 659–85.
Mannuzza, S., Fyer, A. J., Klein, D. F., & Endicott, J. (1986). Schedule for affective disorders and schizophrenia—lifetime version modified for the study of anxiety disorders (SADSLA): Rationale and conceptual development. Journal of Psychiatric Research, 20, 317–325.
Nellist, M., Brooke-Carter, P. T., Connor, J. M., Kwiatkowski, D. J., Johnson, P., & Sampson, J. R. (1993). Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSCl). Journal of Medical Genetics, 30, 224–227.
Osborne, J. P., Fryer, A., & Webb, D. (1991). Epidemiology of tuberous sclerosis. In W. G. Johnson & M. R. Gomez (Eds.), Tuberous sclerosis and allied disorders (Vol. 615, pp. 125–127). New York: New York Academy of Sciences.
Piven, J., Gayle, J., Chase, G. A., Fink, B., Landa, R., Wzorek, M. M., & Folstein, S. E. (1990). A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry, 29, 177–183.
Piven, J., Chase, G. A., Landa, R., Wzorek, M., Gayle, J., Cloud, D., & Folstein, S. (1991). Psychiatric disorders in the parents of autistic individuals. Journal of the American Academy of Child and Adolescent Psychiatry, 30, 471–478.
Riikonen, R., & Simell, O. (1990). Tuberous sclerosis and infantile spasms. Developmental Medicine and Child Neurology, 32, 203–209.
SAS Institute. (1993). SAS Procedures Guide for Personal Computers, Version 6.08. Cary, NC: Author.
Smalley, S. L., Burger, F., & Smith, M. (1994). Phenotypic variation of tuberous sclerosis in a single extended kindred. Journal of Medical Genetics, 31, 761–765.
Smalley, S. L., McCracken, J., & Tanguay, P. (1995). Autism, affective disorders, and social phobia. Neuropsychiatric Genetics, 60, 19–26.
Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992). Autism and tuberous sclerosis. Journal of Autism and Developmental Disorders, 22, 339–355.
Sparrow, S. S., Balla, D. A., & Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales. A revision of the Vineland Social Maturity Scale by Edgar A. Doll. Circle Pines, MN: American Guidance Service.
Wechsler, D. (1974). Manual for the Wechsler Intelligence Scale for Children—Revised. New York: Psychological Corp.
Wechsler, D. (1981). WAIS-R: Manual for the Wechsler Adult Intelligence Scale. New York: Psychological Corp.
Weissman, M. M., Wickramaratne, P., Warner, V., John, K., Prusoff, B. A., Merikangas, K. R., & Gammon, G. D. (1987). Assessing psychiatric disorders in children. Discrepancies between mothers' and children's reports. Archives of General Psychiatry, 44, 747–753.
World Health Organization. (1992). ICD-10 Classification of mental and behavioral disorders: Clinical descriptions and diagnostic guidelines. Geneva: Author.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gutierrez, G.C., Smalley, S.L. & Tanguay, P.E. Autism in Tuberous Sclerosis Complex. J Autism Dev Disord 28, 97–103 (1998). https://doi.org/10.1023/A:1026032413811
Issue Date:
DOI: https://doi.org/10.1023/A:1026032413811