Phénotype psychiatrique de la sclérose tubéreuse de Bourneville

Translated title of the contribution: Psychiatric phenotype of the tuberous sclerosis (Bourneville disease)

Claire Amiet, Anne Philippe, Jean Xavier, David Cohen

Research output: Contribution to journalArticlepeer-review

Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder. Mutations in two tumor suppressor genes (TSC1 and TSC2) have been identified. The psychiatric phenotype shows a bimodal expression. About half of individuals show a severe developmental disorder such as autism and mental retardation. The other patients present with specific cognitive manifestations leading to learning and school adjustment difficulties (visuo-spatial impairment, attention and executive deficits and motor coordination disorder). Despite strong evidence of the involvement of cortical tubers and infantile spasms in the development of autism and mental retardation, the pathogenic bash of the variability of psychiatric expression of TSC is still unknown.

Translated title of the contributionPsychiatric phenotype of the tuberous sclerosis (Bourneville disease)
Original languageFrench
Pages (from-to)206-211
Number of pages6
JournalNeuro-Psy News
Volume6
Issue number5
StatePublished - Nov 2007
Externally publishedYes

Keywords

  • Attention and executive deficits
  • Autism
  • Mental retardation
  • Tuberous sclerosis complex
  • Visuo-spatial impairment

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