Hagberg B A, Skjeldal O H
Department of Pediatrics, Ostra Sjukhuset, Göteborg, Sweden.
Pediatr Neurol. 1994 Jul;11(1):5-11. doi: 10.1016/0887-8994(94)90082-5.
A model for the clinical delineation of atypical cases of Rett syndrome is presented. It is based on the presence, at age > or = 10 years, of combined clusters of at least 3 of 6 primary criteria and at least 5 of 11 supportive manifestations appearing through childhood with advancing age. The model was applied to 16 mentally retarded females, aged 11-47 years (median: 23) who were considered to manifest atypical variants of the syndrome (8 formes frustes, 6 late regression, 2 congenital variants). Two of the 16 patients had an early seizure history as the initial abnormality. In parallel, the number of supportive manifestations in a series of 41 females over 10 years of age with classic Rett syndrome are given. The differentiating power was tested on 8 patients with a chromosome-verified Angelman syndrome. It is concluded that the model applied here has the capacity to identify and distinguish Rett syndrome variants of different types, to sift out other developmental disorders in routine clinical work, and to have potential as a useful research tool.
本文提出了一种用于临床界定雷特综合征非典型病例的模型。该模型基于在年龄≥10岁时，出现6项主要标准中的至少3项组合群集，以及在儿童期随着年龄增长出现的11项支持性表现中的至少5项。该模型应用于16名年龄在11至47岁（中位数：23岁）的智力发育迟缓女性，她们被认为表现出该综合征的非典型变体（8例顿挫型、6例晚期退化型、2例先天性变体）。16例患者中有2例以早期癫痫病史作为初始异常表现。同时，给出了41例10岁以上经典型雷特综合征女性患者的支持性表现数量。在8例经染色体验证的天使综合征患者中测试了该模型的鉴别能力。得出的结论是，此处应用的模型有能力识别和区分不同类型的雷特综合征变体，在常规临床工作中筛选出其他发育障碍，并有潜力作为一种有用的研究工具。
