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- PMID: 25475362
- UKPMCID: 25475362
- DOI: 10.1007/s10803-014-2321-5
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Autism Spectrum Disorder Profile in Neurofibromatosis Type I.
Garg, Shruti; Plasschaert, Ellen; Descheemaeker, Mie-Jef; Huson, Susan; Borghgraef, Martine; Vogels, Annick; Evans, D Gareth; Legius, Eric; Green, Jonathan
Journal of autism and developmental disorders. 2014;.
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Full-text held externally
- PMID: 25475362
- UKPMCID: 25475362
- DOI: 10.1007/s10803-014-2321-5
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.