Autism in tuberous sclerosis

Paolo Curatolo*, Maria Cristina Porfirio, Barbara Manzi, Stefano Seri

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis.

Original languageEnglish
Pages (from-to)327-332
Number of pages6
JournalEuropean Journal of Paediatric Neurology
Issue number6
Publication statusPublished - 1 Nov 2004


  • Autism
  • Cortical tubers
  • Infantile spasms
  • Tuberous sclerosis complex


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