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Journal of Autism and Developmental Disorders

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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

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.

vorige artikel Support Needs of Fathers and Mothers of Children and Adolescents with Autism Spectrum Disorder

volgende artikel The Screening Accuracy of the Parent and Teacher-Reported Social Responsiveness Scale (SRS): Comparison with the 3Di and ADOS

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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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