Autism Spectrum Disorder Profile in Neurofibromatosis Type I

• DOI: 10.1007/s10803-014-2321-5
• Publication Date: 2014-12-04T09:11:48Z
• Authors: Shruti Garg; Ellen Plasschaert; Mie-Jef Descheema...; Susan Huson; Martine Borghgraef; Annick Vogels; D. Gareth Evans; Eric Legius; Jonathan Green
• Keywords: Male; Psychiatric Status Rating Scales; Neurofibromatosis 1; Adolescent; Autism Spectrum Disorder; 03 medical and health sciences; 0302 clinical medicine; Case-Control Studies; Child, Preschool; Humans; Female; Autistic Disorder; Symptom Assessment; Child

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.