未经治疗的 SMA II 和 III 患者 12 个月内的上肢功能变化：使用修订版上肢模块进行的项目级分析

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-11-01 DOI:10.1016/j.nmd.2024.08.006

Giorgia Coratti , Matthew Civitello , Annemarie Rohwer , Emilio Albamonte , Jacqueline Montes , Allan M Glanzman , Amy Pasternak , Roberto De Sanctis , Sally Dunaway Young , Tina Duong , Irene Mizzoni , Evelin Milev , Maria Sframeli , Simone Morando , Adele D'Amico , Michela Catteruccia , Noemi Brolatti , Marika Pane , Mariacristina Scoto , Sonia Messina , Eugenio Mercuri

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引用次数: 0

摘要

修订版上肢模块（RULM）在临床试验和临床环境中的应用越来越广泛。本研究的目的是使用 "移位分析 "来评估未经治疗队列中 RULM 各项能力丧失或增强的模式，并根据 SMA 类型、年龄、SMN2 拷贝数和运动功能状态进行分层。该分析对 129 人（115 人来自 II 型，107 人来自 III 型）的 222 项 12 个月配对评估进行了分析，这些人每年至少进行两次评估。54%的 II 型患者和 29% 的 III 型患者丧失了一项或多项活动能力。42% 的 II 型和 22% 的 III 型患者增加了一项或多项活动。有 27% 的 SMA II 型患者和 9% 的 SMA III 型患者的能力同时增强和减弱。我们的结果测量了丧失或获得的能力数量，提供了一种检测变化的额外方法，可用于解释在接受治疗的 SMA 患者中收集的纵向数据。

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Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

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.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.