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首页> 外文期刊>Journal of Autism and Developmental Disorders >Features of Autism in Rett Syndrome and Severe Mental Retardation
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Features of Autism in Rett Syndrome and Severe Mental Retardation

机译：Rett综合征自闭症的特征和严重的智力低下

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It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior.
机译：长期以来，人们已经认识到Rett综合征（RS）与自闭症之间存在表型重叠。在过去的十年中，我们对RS的临床和遗传学理解的进步表明，RS和自闭症的病因和病程是不同的（也许在少数情况下除外）。尽管如此，仍需进一步描述RS和自闭症之间的表型重叠，以加强临床决策并进一步了解这两种疾病的神经病理学发展。本研究使用自闭症行为清单（ABC）在患有RS的女孩和具有严重和严重智力低下（SMR）的女孩的比较组中测量了自闭症症状。在发展水平和运动能力的控制上，RS的女孩在感觉和相关子量表上的得分高于SMR的女孩。相反，在身体和物体的使用，语言，社会和自助分量表上没有群体差异。关于遗传性疾病（例如RS和自闭症）的行为表型的表征的进一步工作可能有助于鉴定从基因到大脑到行为的神经病过程。

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