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Autism in tuberous sclerosis complex

G C Gutierrez1, S L Smalley, P E Tanguay

  • 1Department of Psychiatry, University of California, Los Angeles 90024, USA.

Journal of Autism and Developmental Disorders
|May 20, 1998
PubMed
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Autism spectrum disorder (ASD) affects 12 of 28 individuals with tuberous sclerosis complex (TSC). Infantile spasms and intellectual disability are more common in TSC patients with ASD, suggesting shared risk factors.

Area of Science:

  • Neurodevelopmental Disorders
  • Genetics and Rare Diseases

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder with a known association with neurodevelopmental issues.
  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a higher prevalence in individuals with TSC than in the general population.

Purpose of the Study:

  • To determine the frequency and clinical presentation of autism spectrum disorder (ASD) in individuals with tuberous sclerosis complex (TSC).
  • To examine potential risk factors associated with the development of ASD in TSC.
  • To explore underlying factors contributing to the co-occurrence of ASD and TSC.

Main Methods:

  • Evaluated 28 probands with TSC for autism and pervasive developmental disorder (PDD) using ICD-10 and DSM-IV criteria.
  • Compared 12 TSC probands with ASD/PDD to 16 TSC probands without these conditions.

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  • Assessed seizure types, intellectual functioning, and family history of psychiatric conditions.

    • Main Results:

    • Eight TSC probands met criteria for ASD, and 4 met criteria for PDD.
    • Infantile spasms and mental retardation were significantly more frequent in the TSC group with ASD/PDD.
    • First-degree relatives of TSC probands with ASD showed elevated rates of social phobia and substance abuse.

    Conclusions:

    • The study confirms a significant association between TSC and ASD/PDD.
    • Specific clinical features like infantile spasms and intellectual disability may be linked to ASD development in TSC.
    • Findings suggest shared genetic or environmental risk factors influencing both TSC and ASD.