Autism spectrum disorders in tuberous sclerosis: Pathogenetic pathways and implications for treatment

Paolo Curatolo, Valerio Napolioni, Romina Moavero

Research output: Contribution to journalArticle

Abstract

Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear. The dysregulation of intracellular signaling through the activation of mTOR pathway could play a direct role in determining susceptibility to autism. Early control of seizures and an early intensive behavioral intervention of autism during the period of brain plasticity can mitigate, but not reverse the final outcome. A greater understanding of the pathogenetic mechanisms underlying autism in tuberous sclerosis could help in devising targeted and potentially more effective treatment strategies.

Original languageEnglish
Pages (from-to)873-880
Number of pages8
JournalJournal of Child Neurology
Volume25
Issue number7
DOIs
Publication statusPublished - 2010

Keywords

  • autism spectrum disorders
  • epilepsy
  • rapamycin
  • tuberous sclerosis complex

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Fingerprint Dive into the research topics of 'Autism spectrum disorders in tuberous sclerosis: Pathogenetic pathways and implications for treatment'. Together they form a unique fingerprint.

  • Cite this