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Gepubliceerd in: Journal of Autism and Developmental Disorders 6/2015

01-06-2015 | Original Paper

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Auteurs: Shruti Garg, Ellen Plasschaert, Mie-Jef Descheemaeker, Susan Huson, Martine Borghgraef, Annick Vogels, D. Gareth Evans, Eric Legius, Jonathan Green

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2015

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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.
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Metagegevens
Titel
Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Auteurs
Shruti Garg
Ellen Plasschaert
Mie-Jef Descheemaeker
Susan Huson
Martine Borghgraef
Annick Vogels
D. Gareth Evans
Eric Legius
Jonathan Green
Publicatiedatum
01-06-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 6/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-014-2321-5

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