Kerr Alison M, Prescott Robin J
Department of Psychological Medicine, University of Glasgow, Gartnavel Royal Hospital for Sick Children & Primary Care NHS Trust, Glasgow G12 0XH, UK.
Brain Dev. 2005 Nov;27 Suppl 1:S20-S24. doi: 10.1016/j.braindev.2004.10.007. Epub 2005 Sep 21.
The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity score based on muscle tone, locomotor ability, feeding difficulty, scoliosis and epilepsy. Data from people with clinically documented classic or non-classic Rett and health records over 20-30 years indicate that severity scores tend to increase throughout the first 15 years and then to stabilise in mild and severe, classic and non-classic Rett. Severity scores before regression reflect later severity scores within relatively wide inter-quartile ranges. In general, the adult severity level is around 40 points above the pre-regression level for classic Rett and around 20 points for non-classic Rett. High early severity scores are associated with reduced cumulative survival. Used with caution, early signs are helpful in diagnosis and prognosis. The mutations T158M, R255X and R168X are generally associated with more severe and R306C and R133C with less severe disease but exceptions make these unreliable predictors of outcome.
英国雷特综合征调查在长达20年的时间里已登记了1159个病例。健康和严重程度指标在患者一生中定期记录，来自临床检查、报告和邮寄问卷。本研究旨在确定基于肌张力、运动能力、喂养困难、脊柱侧弯和癫痫的早期严重程度评分的稳定性和预测价值。来自有临床记录的典型或非典型雷特综合征患者的数据以及20至30年的健康记录表明，严重程度评分在前15年往往会增加，然后在轻度和重度、典型和非典型雷特综合征中趋于稳定。回归前的严重程度评分在相对较宽的四分位间距内反映后期的严重程度评分。一般来说，典型雷特综合征患者成年后的严重程度水平比回归前水平高约40分，非典型雷特综合征患者高约20分。早期严重程度评分高与累积生存率降低有关。谨慎使用的话，早期体征有助于诊断和预后。T158M、R255X和R168X突变通常与更严重的疾病相关，而R306C和R133C与较轻的疾病相关，但也有例外情况，使得这些指标不能可靠地预测疾病结果。
