Italian National Research Council, Institute of Biomedicine and Molecular Immunology, Via Ugo La Malfa, 153, 90146 Palermo, Italy; Regional center for prevention and treatment of respiratory complications of rare genetic neuromuscular diseases, Villa Sofia-Cervello Hospital, Palermo, Italy.
Italian Union Against Muscular Dystrophy (UILDM), Italy.
Neuromuscul Disord. 2019 Aug;29(8):569-575. doi: 10.1016/j.nmd.2019.06.599. Epub 2019 Jun 29.
The aim of this study was to evaluate quality of life (QoL) and its possible determinants in patients affected by Duchenne muscular dystrophy (DMD) in late stages of their disease, when non-invasive ventilation (NIV) is already established. Forty-eight DMD patients who were treated by NIV were enrolled. QoL was assessed by the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. By this questionnaire, different aspects of QoL were assessed on a scale from 0 (best) to 100 (worst). In addition, motor and respiratory function tests were performed. Dysautonomia symptoms, sleep quality, sleepiness, anxiety, and depression were evaluated by validated questionnaires. The global INQoL score was 42.8 ± 19, reflecting a moderately altered QoL. The physical health domain was heavily impaired while the psychosocial domain was only mildly affected. Independence had the highest scores (81.1 ± 21.2), proving to be the most affected item. On multivariate analysis, maximal inspiratory pressure and Pittsburgh Sleep Quality Index, but not daily duration of NIV therapy, predicted global INQoL score. Respiratory impairment and sleep quality were independent predictors of poor QoL in DMD patients under NIV. Sleep quality in DMD is often disregarded, while it should be carefully addressed to ensure a better QoL.
本研究旨在评估处于疾病晚期、已接受无创通气（NIV）治疗的杜氏肌营养不良症（DMD）患者的生活质量（QoL）及其可能的决定因素。本研究纳入了 48 名接受 NIV 治疗的 DMD 患者。使用个体化神经肌肉生活质量（INQoL）问卷评估 QoL。通过该问卷，在 0（最佳）到 100（最差）的量表上评估 QoL 的不同方面。此外，还进行了运动和呼吸功能测试。通过验证有效的问卷评估自主神经功能障碍症状、睡眠质量、嗜睡、焦虑和抑郁。整体 INQoL 评分为 42.8±19，反映了中度改变的 QoL。身体健康方面受到严重影响，而心理社会方面仅受到轻度影响。独立性得分最高（81.1±21.2），是受影响最严重的项目。多变量分析显示，最大吸气压力和匹兹堡睡眠质量指数，但不是 NIV 治疗的每日持续时间，可预测整体 INQoL 评分。呼吸损害和睡眠质量是接受 NIV 治疗的 DMD 患者 QoL 差的独立预测因素。DMD 患者的睡眠质量常常被忽视，而应仔细处理以确保更好的 QoL。
