Autism Spectrum Disorder Profile in Neurofibromatosis Type I.

Research output: Contribution to journalArticle

  • External authors:
  • Ellen Plasschaert
  • Mie-Jef Descheemaeker
  • Susan Huson
  • Martine Borghgraef
  • Annick Vogels
  • Eric Legius


Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4-16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills.

Bibliographical metadata

Original languageEnglish
JournalJournal of Autism and Developmental Disorders
Issue number6
Publication statusPublished - 5 Dec 2014

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