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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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Authors and Affiliations

  1. Institute of Brain Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PL, UK

    Shruti Garg & Jonathan Green

  2. Center of Human Genetics, University Hospitals of Leuven, Leuven, Belgium

    Ellen Plasschaert, Mie-Jef Descheemaeker, Martine Borghgraef, Annick Vogels & Eric Legius

  3. Department of Human Genetics, University Hospitals of Leuven, Herestraat 49, 3000, Leuven, Belgium

    Ellen Plasschaert, Annick Vogels & Eric Legius

  4. Leuven Autism Research (LAuRes), KU Leuven, Leuven, Belgium

    Ellen Plasschaert & Mie-Jef Descheemaeker

  5. Genomic Medicine, Manchester Academic Health Science Centre, Institute of Human Development, The University of Manchester, Central Manchester University Hospitals NHS Trust, St Mary’s Hospital, Oxford Road, Manchester, M13 9WL, UK

    Susan Huson & D. Gareth Evans

Authors
  1. Shruti Garg
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  2. Ellen Plasschaert
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  3. Mie-Jef Descheemaeker
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  4. Susan Huson
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  6. Annick Vogels
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  7. D. Gareth Evans
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  8. Eric Legius
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  9. Jonathan Green
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Corresponding authors

Correspondence to Eric Legius or Jonathan Green.

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Shruti Garg and Ellen Plasschaert have contributed equally.

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Garg, S., Plasschaert, E., Descheemaeker, MJ. et al. Autism Spectrum Disorder Profile in Neurofibromatosis Type I. J Autism Dev Disord 45, 1649–1657 (2015). https://doi.org/10.1007/s10803-014-2321-5

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  • DOI: https://doi.org/10.1007/s10803-014-2321-5

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