Cianfaglione Rina, Clarke Angus, Kerr Mike, Hastings Richard P, Oliver Chris, Felce David
Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Institute of Cancer and Genetics, Institute of Medical Genetics Building, Cardiff University, Cardiff, UK.
Am J Med Genet A. 2015 Jul;167(7):1493-500. doi: 10.1002/ajmg.a.37027. Epub 2015 Mar 28.
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.
作为一项更广泛研究的一部分，该研究旨在调查全国范围内患有雷特综合征（RTT）的女孩和女性样本的行为表型，并与精心挑选的对照组进行比较，以及研究其与父母幸福感的关系。研究分析了91名参与者的发育、临床严重程度、当前能力和健康状况，并与诊断、临床和基因突变类别相关联。早期截断突变或大片段缺失与更严重的病情相关。早期退化也与更严重的病情相关。这三者都与当前较低的能力相关。癫痫、体重问题、胃肠道和肠道问题是常见的共病。典型RTT患者比非典型RTT患者有更多的健康问题。相当一部分受访者报告说，他们患有RTT的亲属相当频繁地出现可能疼痛的迹象。总体而言，该研究提供了关于RTT患者当前能力和总体健康状况的新数据，并进一步证明了病情的严重程度和随后残疾程度的差异，尽管通常在严重范围内，但可能与基因突变有关。某些共病的存在表明对改善健康状况有持续的重大需求。疼痛体验需要进一步研究。
