Title |
Autism Spectrum Disorder Profile in Neurofibromatosis Type I
|
---|---|
Published in |
Journal of Autism and Developmental Disorders, December 2014
|
DOI | 10.1007/s10803-014-2321-5 |
Pubmed ID | |
Authors |
Shruti Garg, Ellen Plasschaert, Mie-Jef Descheemaeker, Susan Huson, Martine Borghgraef, Annick Vogels, D. Gareth Evans, Eric Legius, Jonathan Green |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 20% |
Canada | 1 | 20% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 60% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Scientists | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | <1% |
Netherlands | 1 | <1% |
Unknown | 125 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 26 | 20% |
Researcher | 23 | 18% |
Student > Ph. D. Student | 20 | 16% |
Student > Bachelor | 13 | 10% |
Student > Doctoral Student | 5 | 4% |
Other | 12 | 9% |
Unknown | 28 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Psychology | 31 | 24% |
Medicine and Dentistry | 19 | 15% |
Neuroscience | 12 | 9% |
Agricultural and Biological Sciences | 9 | 7% |
Social Sciences | 6 | 5% |
Other | 14 | 11% |
Unknown | 36 | 28% |