Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28.
The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals. There was a loss of one or more activities in 54% in type II and in 29% type III. A gain of one or more activities was found in 42% type II and in 22% type III. There were concomitant gains and losses in 27% in SMA II and in 9% in SMA III. Our results, measuring the number of abilities that are lost or gained, provide an additional method of detecting changes that can be used for the interpretation of the longitudinal data collected in treated SMA individuals.
修订后的上肢模块（RULM）已越来越多地在临床试验和临床环境中使用。本研究旨在使用“移位分析”来评估未治疗队列中 RULM 中每个项目的丧失或获得能力的模式，这些队列按 SMA 类型、年龄、SMN2 拷贝数和运动功能状态分层。对 129 名个体的 222 次 12 个月的配对评估进行了分析（来自 II 型的 115 次评估和 III 型的 107 次评估），这些个体的评估间隔至少为一年。在 II 型中，54%的个体丧失了一项或多项活动，在 III 型中，29%的个体丧失了一项或多项活动。在 II 型中，有 42%的个体获得了一项或多项活动，在 III 型中，有 22%的个体获得了一项或多项活动。在 SMA II 中，有 27%的个体同时获得和丧失了能力，在 SMA III 中，有 9%的个体同时获得和丧失了能力。我们的研究结果，通过衡量丧失或获得的能力数量，提供了一种额外的方法来检测变化，可用于解释在接受治疗的 SMA 个体中收集的纵向数据。
