Clinical severity and quality of life in children and adolescents with Rett syndrome
Clinical severity and quality of life in children and adolescents with Rett syndrome
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DOI：
10.1212/wnl.0b013e3182377dd2
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发表时间：
2011-11-01
期刊：
影响因子：
9.9
通讯作者：
Krischer, J. P.
中科院分区：
文献类型：
--
作者：
Lane, J. B.;Lee, H-S.;Krischer, J. P.
目的：Rett综合征（RTT）的临床特征和遗传学研究已较为深入，但对其生活质量的检测还很有限。本研究描述了经典RTT.Methods的女性儿童和青少年的临床严重程度对生活质量的影响：对NIH赞助的RTT自然史研究收集的数据进行了横断面和纵向分析。超过200名5至18岁的经典RTT参与者在分析时完成了2年的随访。回归模型调整后的MECP 2突变类型和年龄在招募被用来检查临床状态和QOL之间的关联。结果：严重的临床损害与身体QOL差，但更差的运动功能和RTT刻板印象发病年龄较早与更好的心理社会QOL;相反，更好的运动功能与更差的心理社会QOL。RTT儿童和青少年的标准心理社会QOL评估在运动功能严重程度方面存在显著差异。随着RTT临床试验的出现，儿童健康问卷50可能代表重要的结果测量之一。神经病学（R）2011;77：1812-1818
Objective: The clinical features and genetics of Rett syndrome (RTT) have been well studied, but examination of quality of life (QOL) is limited. This study describes the impact of clinical severity on QOL among female children and adolescents with classic RTT.Methods: Cross-sectional and longitudinal analyses were conducted on data collected from an NIH-sponsored RTT natural history study. More than 200 participants from 5 to 18 years of age with classic RTT finished their 2-year follow-up at the time of analysis. Regression models after adjustment for their MECP2 mutation type and age at enrollment were used to examine the association between clinical status and QOL.Results: Severe clinical impairment was highly associated with poor physical QOL, but worse motor function and earlier age at onset of RTT stereotypies were associated with better psychosocial QOL; conversely, better motor function was associated with poorer psychosocial QOL.Conclusions: Standard psychosocial QOL assessment for children and adolescents with RTT differs significantly with regard to their motor function severity. As clinical trials in RTT emerge, the Child Health Questionnaire 50 may represent one of the important outcome measures. Neurology (R) 2011;77:1812-1818