title: Autism spectrum disorder profile in neurofibromatosis type I.
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.
authors.affiliation: Institute of Brain Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PL, UK.
authors.forename: Shruti
authors.initials: S
authors.lastname: Garg
authors.forename: Ellen
authors.initials: E
authors.lastname: Plasschaert
authors.forename: Mie-Jef
authors.initials: MJ
authors.lastname: Descheemaeker
authors.forename: Susan
authors.initials: S
authors.lastname: Huson
authors.forename: Martine
authors.initials: M
authors.lastname: Borghgraef
authors.forename: Annick
authors.initials: A
authors.lastname: Vogels
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
authors.forename: Jonathan
authors.initials: J
authors.lastname: Green
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000150:complications / Q000175:diagnosis*; D001321:Autistic Disorder / Q000150:complications / Q000175:diagnosis*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D011569:Psychiatric Status Rating Scales; D063189:Symptom Assessment