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Abstract：
Limb girdle muscular dystrophy (LGMD) is a debilitating disease and the fourth most common muscular dystrophy. This study describes the development of the LGMD-Health Index (LGMD-HI). Participants were aged >18 years and recruited from three LGMD registries and GRASP-LGMD consortium. The initial instrument, comprised of 16 thematic subscales and 161 items, underwent expert review resulting in item removal as well as confirmatory factor analysis followed by inter-rater reliability and internal consistency of the subscales. Following expert review, one subscale and 59 items were eliminated. Inter-rater reliability was assessed and five items were removed due to Cohen\'s kappa <0.5. The final subscales had high internal consistencies with an average Cronbach alpha of 0.92. Test re-test reliability of the final instrument was high (intraclass correlation coefficient=0.97). Known groups validity testing showed a statistically significant difference in LGMD-HI scores amongst subjects based on ambulation status (28.7 vs 50.0, p < 0.0001), but not sex, employment status, or genetic subtype. The final instrument is comprised of 15 subscales and 97 items. The LGMD-HI is a disease-specific, patient-reported outcome measure designed in compliance with published FDA guidelines. This instrument is capable of measuring burden of disease with no significant variation based on LGMD subtype.
摘要：
四肢带型肌营养不良症（LGMD）是一种使人衰弱的疾病，是第四大最常见的肌营养不良症。这项研究描述了LGMD-健康指数（LGMD-HI）的发展。参与者年龄>18岁，从三个LGMD注册管理机构和GRASP-LGMD联盟招募。最初的仪器，由16个专题分量表和161个项目组成，进行了专家审查,结果进行了项目删除以及验证性因素分析,然后进行了评分者间的信度和各分量表的内部一致性.经过专家审查，一个分量表和59个项目被删除。评估者间的可靠性，由于科恩的kappa<0.5，五个项目被删除。最终的子量表具有很高的内部稠度，平均Cronbachα为0.92。最终仪器的测试再测试可靠性高(组内相关系数=0.97)。已知组有效性测试显示，基于步行状态的受试者之间的LGMD-HI得分存在统计学上的显着差异（28.7vs50.0，p<0.0001），但不是性,就业状况,或遗传亚型。最终仪器由15个子量表和97个项目组成。LGMD-HI是一种疾病特异性，根据已发布的FDA指南设计的患者报告结局指标.该仪器能够测量疾病负担，基于LGMD亚型没有显着变化。
