雷特综合征：病例报告与管理策略。

Rett syndrome: case reports and management strategies.

作者信息

Burd L, Gascon G, Kerbeshian J

机构信息

Child Evaluation and Treatment Program, Medical Center Rehabilitation Hospital, Grand Forks, ND 58201.

出版信息

Neurosci Biobehav Rev. 1988 Fall-Winter;12(3-4):283-7. doi: 10.1016/s0149-7634(88)80060-5.

DOI:10.1016/s0149-7634(88)80060-5

PMID:3226656

Abstract

Rett Syndrome (RS) is a mental retardation syndrome occurring in females consisting of normal pre-, peri-, and neonatal growth and development, followed by rapid regression after 3 but before 30 months, an arrest of the regression and a developmental plateau. The regression results in autistic behavior, with loss of production and comprehension of language, seizures, hyperventilation, characteristic hand-wringing, and ataxic gait. Four case histories of RS from the authors' practice are presented. Management strategies are presented and needed research is suggested.

摘要

雷特综合征（RS）是一种发生于女性的智力发育迟缓综合征，其特点是出生前、围产期和新生儿期生长发育正常，随后在3个月至30个月之间快速退化，退化停止后进入发育停滞期。这种退化导致自闭症行为，包括语言表达和理解能力丧失、癫痫发作、换气过度、典型的绞手动作和共济失调步态。本文介绍了作者临床实践中4例雷特综合征的病例史。还提出了管理策略并建议了所需的研究。