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Case Report: Retracing Atypical Development: A PreservedSpeech Variant of Rett Syndrome

机译:病例报告:非典型发展:Rett综合征的保留语音变体

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摘要

The subject of the present study is the develop-ment of a girl with the preserved speech variant of Rettdisorder. Our data are based on detailed retrospective andprospective video analyses. Despite achieving develop-mental milestones, movement quality was already abnormalduring the girl's first half year of life. In addition, early handstereotypies, idiosyncratic vocalizations, asymmetric eyeopening, and abnormal facial expressions are early signsproving that this variant of the Rett complex, too, manifestsitself within the first months of life.
机译:本研究的主题是一个保留了Rettdisorder语音变体的女孩的成长。我们的数据基于详细的回顾性和前瞻性视频分析。尽管达到了发展里程碑,但在女孩生命的前半年,其运动质量已经异常。此外,早期的刻板印象,特有的发声,不对称的睁眼和异常的面部表情都是早期迹象,证明了这种Rett复合体也可以在生命的最初几个月内显现出来。

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