Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy
Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy
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DOI：
10.1111/j.1469-8749.2010.03821.x
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发表时间：
2011-02-01
影响因子：
3.8
通讯作者：
Kraegeloh-Mann, Ingeborg
中科院分区：
文献类型：
--
作者：
Kehrer, Christiane;Blumenstock, Gunnar;Kraegeloh-Mann, Ingeborg
运动功能减退是婴幼儿晚期异色性脑白质营养不良（MLD）的一个重要特征。对病程的评估意味着需要对运动能力下降进行标准化描述。本研究的目的是建立MLD大肌肉运动功能的分类系统，并评估其互认信度。方法采用脑性瘫痪大运动功能分类系统（GMFC-MLD）建立MLD大运动功能分类模型。从1970年至2007年间出生的59名MLD患者（27名男性，32名女性）（21名晚期婴儿，38名青少年）的运动数据收集自一项全国调查，并由6名独立评分者进行分类。晚期婴儿组的中位发病年龄为17个月（范围9-27个月），青少年组为74个月（35-168个月）。结果GMFC-MLD分为7个等级，适用于18月龄儿童。它代表了从正常（0级）到所有大运动功能丧失（6级）的所有临床相关阶段。总体评分一致性的kappa系数为0.90。不同水平间kappa系数无显著差异。GMFC-MLD是一种高度可靠、可行的MLD大运动功能标准化评估工具，可用于描述疾病的自然过程和评估治疗方案，如干细胞移植和酶替代，这两者都是当前研究的主题。
AimMotor deterioration is a key feature of late infantile and juvenile metachromatic leucodystrophy (MLD). Assessment of the disease course implies the need for a standardized description of motor decline. The aim of this study was to establish a classification system for gross motor function in MLD and to assess its interrater reliability.MethodThe Gross Motor Function Classification in MLD (GMFC-MLD) was modelled analogous to the Gross Motor Function Classification System in cerebral palsy. Motor data from 59 individuals (27 male; 32 female) with MLD (21 late infantile; 38 juvenile) born between 1970 and 2007 were gathered from a nationwide survey and classified by six independent raters. Median age at onset was 17 months (range 9-27mo) for the late infantile group and 74 months (35-168mo) for the juvenile group.ResultsThe GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6). The kappa coefficient was 0.90 for overall rater agreement. There were no significant differences between level-specific kappa coefficients.InterpretationThe GMFC-MLD is a highly reliable, feasible tool for standardized assessment of gross motor function in MLD which can be used for the description of the natural course of the disease and for evaluation of therapeutic options such as stem cell transplantation and enzyme replacement, both of which are topics of current research.