Title: Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Authors: Garg, Shruti ×
Plasschaert, Ellen
Descheemaeker, Mie-Jef
Huson, Susan
Borghgraef, Martine
Vogels, Annick
Evans, D Gareth
Legius, Eric
Green, Jonathan #
Issue Date: Jun-2015
Publisher: Plenum Press
Series Title: Journal of Autism and Developmental Disorders vol:45 issue:6 pages:1649-1657
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.
ISSN: 0162-3257
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Garg J Autism Dev Disord 2015.pdfPublisher's pdf Published 458KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science