Autism spectrum disorder profile in neurofibromatosis type I

J Autism Dev Disord. 2015 Jun;45(6):1649-57. doi: 10.1007/s10803-014-2321-5.

Abstract

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.

MeSH terms

  • Adolescent
  • Autism Spectrum Disorder / complications
  • Autism Spectrum Disorder / diagnosis*
  • Autistic Disorder / complications
  • Autistic Disorder / diagnosis*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / diagnosis*
  • Psychiatric Status Rating Scales
  • Symptom Assessment