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雷特综合征:一份纵向发育病例报告。

Rett syndrome: a longitudinal developmental case report.

作者信息

Garber N, Veydt N

机构信息

Ohio University, School of Hearing and Speech Sciences, Athens 45701.

出版信息

J Commun Disord. 1990 Feb;23(1):61-75. doi: 10.1016/0021-9924(90)90013-o.

DOI:10.1016/0021-9924(90)90013-o
PMID:2329185
Abstract

Rett syndrome is a recently described progressive neurological disorder of unknown etiology occurring only in females, causing severe to profound mental retardation and characterized by loss of purposeful hand use and stereotypic hand movements. The present study examined development in five areas: gross motor skills, fine motor skills, self-help skills, communication, and cognition. Results indicated a general stagnation in all developmental areas beginning at approximately 15 months. No skills progressed beyond the 2-year level; this, despite several years of intensive, interdisciplinary intervention. Cognitive and communication skills regressed, then stabilized for several years, and subsequently began further regression. Gross motor and self-help skills appear to be areas of relative strength.

摘要

雷特综合征是一种最近才被描述的进行性神经障碍,病因不明,仅发生于女性,会导致严重至极重度智力发育迟缓,其特征为丧失有目的的手部运用能力和刻板的手部动作。本研究考察了五个方面的发育情况:大运动技能、精细运动技能、自理技能、沟通能力和认知能力。结果表明,从大约15个月开始,所有发育领域普遍停滞不前。没有技能发展超过2岁水平;尽管经过了数年的强化、跨学科干预,情况依然如此。认知和沟通技能出现倒退,然后稳定数年,随后又开始进一步倒退。大运动和自理技能似乎是相对优势领域。

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