Young Deidra, Bebbington Ami, de Klerk Nick, Bower Carol, Nagarajan Lakshmi, Leonard Helen
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia.
Res Autism Spectr Disord. 2011 Jan;5(1):442-449. doi: 10.1016/j.rasd.2010.06.007.
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with Principal Component Analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X, p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome.
本研究旨在按突变类型调查雷特综合征患者健康状况和医疗服务使用情况随时间的变化轨迹。数据来自对澳大利亚雷特综合征数据库中256名参与者进行的为期六年的问卷调查。通过主成分分析将健康状况（疾病发作次数和用药量）和医疗服务使用情况（全科医生和专科医生就诊次数以及住院次数）汇总为综合得分。线性和混合回归模型研究了突变类型和其他变量随时间对这些得分的影响。对于某些突变（如p.R255X、p.R168X），健康状况在年轻时较差，随时间改善；而对于p.R133C，在年轻时较好，随时间恶化。对于携带p.R133C的患者，医疗服务使用在年轻时最低，在25岁时最高。对于其他突变，如p.R255X、p.R270X、p.R294X、C末端和p.R306C，医疗服务使用在年轻时较高，但到25岁时大幅下降。医疗服务使用情况总体上与健康状况恶化同步下降，尽管这种模式因突变类型而异，这表明雷特综合征病程存在重要的变异性。
