This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD. Participants included eighteen children with FSHD, and matched healthy controls. Reliability data were collected from 15 participants with FSHD over two testing sessions. Validity data were collected from all participants. Participants with FSHD completed; the FSHD-COM (and modified pediatric version), Motor Function Measure-32 (MFM-32), FSHD Severity Scales, Performance of the Upper Limb 2.0, Pediatric Quality of Life™ Neuromuscular Module and pediatric FSHD Health-Index Questionnaire. Both versions of the FSHD-COM showed excellent intra-rater reliability (ICC_1,2 > 0.99, lower 95%CI > 0.98) with a Minimal Detectable Change (MDC95%) of ≤14.5%. The FSHD-COM had robust and widespread correlations with other related outcome measures. The FSHD-COM versions and 6 min walk test effectively discriminated between children with and without FSHD; the MFM-32 and 10 m walk/run test did not. Ceiling effects were not observed on either version of the FSHD-COM. Reliability and validity findings in this childhood FSHD study concord with estimates in adults. Both versions of the FSHD-COM were effective in discriminating disease in children with mild FSHD symptoms. The FSHD-COM has the potential to be a useful measure of function across the life span.

本研究旨在调查儿童 FSHD 的面肩肱型营养不良综合结果测量 (FSHD-COM) 的评分者内信度和结构效度。参与者包括 18 名患有 FSHD 的儿童和匹配的健康对照。可靠性数据是从 15 名 FSHD 参与者在两个测试阶段收集的。从所有参与者那里收集了有效性数据。完成 FSHD 的参与者；FSHD-COM（和改进的儿科版本）、运动功能测量 32 (MFM-32)、FSHD 严重程度量表、上肢表现 2.0、儿科生活质量™ 神经肌肉模块和儿科 FSHD 健康指数问卷。FSHD-COM 的两个版本都显示出出色的内部评分者可靠性（ICC _1,2> 0.99，下 95% CI > 0.98），最小可检测变化 (MDC95%) ≤ 14.5%。FSHD-COM 与其他相关结果指标具有强大而广泛的相关性。FSHD-COM 版本和 6 分钟步行测试有效区分了有和没有 FSHD 的儿童；MFM-32 和 10 m 步行/跑步测试没有。在任一版本的 FSHD-COM 上均未观察到天花板效应。这项儿童 FSHD 研究的可靠性和有效性结果与成年人的估计结果一致。两种版本的 FSHD-COM 都能有效区分具有轻度 FSHD 症状的儿童的疾病。FSHD-COM 有可能成为衡量整个生命周期功能的有用指标。