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有语言能力保留的瑞特综合征女孩。

The Rett girls with preserved speech.

作者信息

Zappella M

机构信息

Department of Child Neurology and Psychiatry, Regional Hospital, Siena, Italy.

出版信息

Brain Dev. 1992 Mar;14(2):98-101. doi: 10.1016/s0387-7604(12)80094-5.

Abstract

In addition to a total population of 102 classic Rett syndrome girls who visited our department in the last 8 years, 3 were observed showing some of the features typical of this syndrome, including hand-washing activities, but also some atypical features, the most notable of which was their ability to speak in fully formed phrases. One of these girls has a sister with the typical features of classic Rett syndrome. Atypical variants of the Rett syndrome are discussed and the possibility of a "speaking" variant is considered.

摘要

除了在过去8年中到我们科室就诊的102名典型雷特综合征女孩外,还观察到3名患者表现出该综合征的一些典型特征,包括洗手行为,但也有一些非典型特征,其中最显著的是她们能够说出完整的短语。这些女孩中有一个的姐姐患有典型的雷特综合征。文中讨论了雷特综合征的非典型变体,并考虑了“能说话”变体的可能性。

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