• Romina Moavero
  • Arianna Benvenuto
  • Leonardo Emberti Gialloreti
  • Martina Siracusano
  • Katarzyna Kotulska
  • Bernhard Weschke
  • Kate Riney
  • Floor E Jansen
  • Martha Feucht
  • Pavel Krsek
  • Rima Nabbout
  • Konrad Wojdan
  • Julita Borkowska
  • Krzystof Sadowski
  • Christoph Hertzberg
  • Hanna Hulshof
  • Sharon Samueli
  • Barbora Benova
  • Eleonora Aronica
  • David J Kwiatkowski
  • Lieven Lagae
  • Sergiusz Jozwiak
  • Paolo Curatolo

Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6-24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development-BSID, and Autism Diagnostic Observation Schedule-ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy-Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6-12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies.

Original languageEnglish
Article number788
Number of pages17
JournalJournal of Clinical Medicine
Issue number6
Publication statusPublished - 3 Jun 2019

ID: 47073266