Autism Spectrum Disorder Profile in Neurofibromatosis Type I.

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

doi:10.1007/s10803-014-2321-5

Autism Spectrum Disorder Profile in Neurofibromatosis Type I.

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Journal of Autism and Developmental Disorders
Volume	45
Issue number	6
DOIs	https://doi.org/10.1007/s10803-014-2321-5
Publication status	Published - 5 Dec 2014

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title = "Autism Spectrum Disorder Profile in Neurofibromatosis Type I.",

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.",

author = "Shruti Garg and Ellen Plasschaert and Mie-Jef Descheemaeker and Susan Huson and Martine Borghgraef and Annick Vogels and Evans, {D Gareth} and Eric Legius and Jonathan Green",

year = "2014",

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doi = "10.1007/s10803-014-2321-5",

language = "English",

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T1 - Autism Spectrum Disorder Profile in Neurofibromatosis Type I.

AU - Garg, Shruti

AU - Plasschaert, Ellen

AU - Descheemaeker, Mie-Jef

AU - Huson, Susan

AU - Borghgraef, Martine

AU - Vogels, Annick

AU - Evans, D Gareth

AU - Legius, Eric

AU - Green, Jonathan

PY - 2014/12/5

Y1 - 2014/12/5

N2 - 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.

AB - 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.

U2 - 10.1007/s10803-014-2321-5

DO - 10.1007/s10803-014-2321-5

M3 - Article

C2 - 25475362

SN - 0162-3257

VL - 45

JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

IS - 6

ER -

Autism Spectrum Disorder Profile in Neurofibromatosis Type I.

Abstract

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