Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Autism Spectrum Disorder Profile in Neurofibromatosis Type I
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DOI：
10.1007/s10803-014-2321-5
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发表时间：
2015-06-01
影响因子：
3.9
通讯作者：
Green, Jonathan
中科院分区：
文献类型：
--
作者：
Garg, Shruti;Plasschaert, Ellen;Green, Jonathan
1型神经纤维瘤病(NF1)是一种常见的常染色体显性单基因遗传病，其中自闭症谱系障碍(ASD)的并存引起了人们极大的研究兴趣，其患病率估计为21-40%。然而，NF1中ASD行为表型的详细特征仍然缺乏。这项研究利用父母评定的社会反应性量表和研究者自闭症诊断观察量表-2的证据，表征了患有NF1(n=36)的4-16岁儿童的ASD症状的表型特征。与智商匹配的自闭症和自闭症儿童参照组相比，NF1的个人资料显示出总体上的相似性，但眼神交流有所改善，重复行为较少，语言技能更好。
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.