113P 成人脊髓性肌肉萎缩症患者的生活质量和参与：QOLSMA

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.020

S. Ribault , P. Rippert , T. Lopinet , L. Le Goff , A. Barrière , M. Morard , J. Theuriet , A. Pegat , F. Boyer , C. Vuillerot

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引用次数: 0

摘要

脊髓性肌萎缩症是一种由 SMN1 基因突变引起的运动神经元疾病，是肢体和轴性运动障碍的起源。关于 SMA 成年患者生活质量的特殊性及其与世界卫生组织在《国际功能分类》中定义的参与之间的联系，目前仍鲜有描述。本研究旨在评估 SMA 成年患者与其他 NMD 患者相比的生活质量，并确定 SMA 患者生活质量的决定因素。材料和成人确诊为 SMA 的患者在知情同意的情况下填写了一份匿名在线问卷，其中包含有关医疗和人口统计学数据、SMA 独立性量表 (SMAIS)、QOLgNMD 量表、罗森伯格自尊量表的问题以及有关患者参与的问题。共纳入 114 人。与其他 NMD 患者相比，SMA 患者的 QOLgNMD 自我感知领域以及活动和参与领域较低（p<0.0001）。生活质量与布鲁克量表、维格诺斯量表或 SMAIS 量表之间没有相关性。QOLgNMD 的 3 个领域与压力水平、罗森伯格量表和生活满意度量表显著相关。与其他 NMD 相比，SMA 患者在自我认知、活动和参与方面的生活质量较低。然而，运动功能和独立性似乎并不是生活质量的决定因素。评估生活质量的决定因素对于提出评估治疗干预措施的相关结果至关重要。

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113P Quality of life and participation of adults with spinal muscular atrophy: QOLSMA

Spinal muscular atrophy is a motoneuron disease caused by a mutation of the SMN1 gene, at the origin of a limb and axial motor deficiency. The specificities of the quality of life of adult patients with SMA remain poorly described, as well as its link with participation as defined by the WHO in the International Classification of Function. This study aims to assess SMA adult patient's quality of life compared to other NMD patients, and to identify determinants of quality of life in SMA patients. Material and Adult individuals with a diagnosis of SMA gave an informed consent and filled an anonymous online questionnaire containing questions about medical and demographic data, the SMA independence scale (SMAIS), the QOLgNMD scale, the Rosenberg self-esteem scale, and questions regarding patients’ participation. 114 individuals were included. QOLgNMD self-perception domain and activities and participation domain were lower in the SMA population compared to the other NMD population (p<0.0001). There was no correlation between quality of life and the Brooke, Vignos or the SMAIS scales. The 3 domains of the QOLgNMD were significantly correlated with the level of stress, the Rosenberg scale and the satisfaction with life scale. SMA patients showed a lower quality of life regarding self-perception and activities and participation compared to other NMDs. However, motor function and independence do not appear to be determinants of quality of life. Assessing the determinants of quality of life is crucial to propose relevant outcomes for the evaluation of therapeutic interventions.

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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.