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. 2015 Jun;45(6):1649-57.
doi: 10.1007/s10803-014-2321-5.

Autism spectrum disorder profile in neurofibromatosis type I

Shruti Garg  1 , Ellen Plasschaert, Mie-Jef Descheemaeker, Susan Huson, Martine Borghgraef, Annick Vogels, D Gareth Evans, Eric Legius, Jonathan Green
Affiliations

Autism spectrum disorder profile in neurofibromatosis type I

Shruti Garg et al. J Autism Dev Disord. 2015 Jun.

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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