International Paediatric Mitochondrial Disease Scale.
International Paediatric Mitochondrial Disease Scale.
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DOI：
10.1007/s10545-016-9948-7
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发表时间：
2016-09
影响因子：
4.2
通讯作者：
Smeitink JAM
中科院分区：
文献类型：
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作者：
Koene S;Hendriks JCM;Dirks I;de Boer L;de Vries MC;Janssen MCH;Smuts I;Fung CW;Wong VCN;de Coo IRFM;Vill K;Stendel C;Klopstock T;Falk MJ;McCormick EM;McFarland R;de Groot IJM;Smeitink JAM
迫切需要为患有线粒体疾病的儿童制定可靠和普遍适用的结果衡量标准。在这项研究中，我们的目标是在基于Delphi的过程中将现有的纽卡斯尔儿科线粒体疾病量表(NPMDS)调整为国际儿科线粒体疾病量表(IPMDS)，并在8名患者中进行了一项试验性可靠性研究。随后，我们的目标是在一项多中心研究中检验IPMDS的可行性、结构效度和信度。这项研究评估了来自四个不同大陆的五个不同专家中心的17名患者的临床、生化和遗传异质性组(年龄1.6-16岁)。IPMDS的可行性很好，遗漏的项目数量很少(4%)，患者、父母和用户的积极评价表明。我们的小样本的主成分分析确定了三个因素，解释了57.9%的方差。假设检验表明，该模型具有较好的结构效度。评价员之间的总体信度良好[评分员之间一致性的中位数组内相关系数(ICC协议)0.85；范围0.23-0.99]。总之，我们建议使用IPMDS来评估患有线粒体疾病的儿童的自然病史。这些数据应该被用来进一步探索IPMDS的结构效度，并设定年龄限制。同时，应研究反应性和临床上最小的重要差异，以便于在未来的临床试验中计算样本量。本文的在线版本(doi：10.1007/s1054501699487)包含补充材料，授权用户可以使用。
There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) during a Delphi-based process with input from international collaborators, patients and caretakers, as well as a pilot reliability study in eight patients. Subsequently, we aimed to test the feasibility, construct validity and reliability of the IPMDS in a multicentre study. A clinically, biochemically and genetically heterogeneous group of 17 patients (age 1.6–16 years) from five different expert centres from four different continents were evaluated in this study. The feasibility of the IPMDS was good, as indicated by a low number of missing items (4 %) and the positive evaluation of patients, parents and users. Principal component analysis of our small sample identified three factors, which explained 57.9 % of the variance. Good construct validity was found using hypothesis testing. The overall interrater reliability was good [median intraclass correlation coefficient for agreement between raters (ICCagreement) 0.85; range 0.23–0.99). In conclusion, we suggest using the IPMDS for assessing natural history in children with mitochondrial diseases. These data should be used to further explore construct validity of the IPMDS and to set age limits. In parallel, responsiveness and the minimal clinically important difference should be studied to facilitate sample size calculations in future clinical trials. The online version of this article (doi:10.1007/s10545-016-9948-7) contains supplementary material, which is available to authorized users.