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      Autism spectrum disorder profile in neurofibromatosis type I.

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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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          Author and article information

          Journal
          J Autism Dev Disord
          Journal of autism and developmental disorders
          Springer Nature
          1573-3432
          0162-3257
          Jun 2015
          : 45
          : 6
          Affiliations
          [1 ] Institute of Brain Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PL, UK.
          Article
          10.1007/s10803-014-2321-5
          25475362
          5b8ddb64-b51a-461d-a582-590dbaf6819c
          History

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