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瑞特综合征:文献综述

Rett syndrome: a comprehensive review of the literature.

作者信息

Perry A

机构信息

Thistletown Regional Centre, Rexdale, Ontario, Canada.

出版信息

Am J Ment Retard. 1991 Nov;96(3):275-90.

PMID:1756032
Abstract

A comprehensive review of Rett syndrome, a recently identified developmental disability found only in females, was presented. The syndrome involves severe physical and mental handicaps. The rapidly accumulating research on Rett syndrome was reviewed for readers without a medical background. A brief history of Rett syndrome, the diagnostic criteria for this disorder, and the clinical stages that have been noted were presented. Information on the incidence of Rett syndrome and a discussion of issues in differential diagnosis (particularly with autism) was also included. The etiological data and genetic theories were then discussed as were treatment approaches and prognosis.

摘要

本文对瑞特综合征进行了全面综述,这是一种最近发现的仅见于女性的发育障碍。该综合征涉及严重的身心障碍。本文为没有医学背景的读者综述了关于瑞特综合征迅速积累的研究。介绍了瑞特综合征的简史、该疾病的诊断标准以及已注意到的临床阶段。还包括了瑞特综合征的发病率信息以及鉴别诊断问题(特别是与自闭症的鉴别)的讨论。随后讨论了病因学数据和遗传学理论,以及治疗方法和预后。

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