Mix Lucas, Winter Benedikt, Wurster Claudia D, Platen Sophia, Witzel Simon, Uzelac Zeljko, Graf Heiko, Ludolph Albert C, Lulé Dorothée
Department of Neurology, Ulm University, Ulm, Germany.
Department of Paediatrics, Ulm University, Ulm, Germany.
Front Neurol. 2021 Mar 29;12:626787. doi: 10.3389/fneur.2021.626787. eCollection 2021.
Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to slow down or stop disease progression with a potentially major impact on patients' well-being. This study evaluates quality of life (QoL) in pediatric and adult patients over the course of therapy with nusinersen. Twenty-six SMA patients treated with nusinersen were evaluated regarding global QoL (gQoL), health-related QoL (HRQoL) and depressiveness. Assessments were conducted three times over the first 6 months of treatment. Applied were different questionnaires: the Anamnestic Comparative Self-Assessment (ACSA) for gQoL, the Short Form-36 Health Survey (SF-36) for HRQoL in adult patients and the ALS Depression Inventory 12 Items (ADI-12) for depressiveness. The sample was matched with 22 healthy controls. Despite severe physical restrictions, patients reported high levels of QoL and low levels of depressiveness at study entry. Early disease onset and low levels of physical functioning were associated with better gQoL and lower levels of depressiveness. A significant decrease of gQoL in patients was evident over the course of the study. Still, adult patients reported a significant increase in perceived health. Our study provides first insight that SMA patients experience a gQoL superior to healthy controls at start of therapy. This might indicate patients' high hopes and expectations toward treatment. gQoL returns to a level similar to that of healthy controls over the course of therapy.
脊髓性肌萎缩症（SMA）是一种严重的神经退行性疾病，其特征为进行性肌肉无力和萎缩。反义寡核苷酸（ASO）药物诺西那生钠的获批，为减缓或阻止疾病进展提供了一种有效的药理学方法，这可能对患者的健康产生重大影响。本研究评估了诺西那生钠治疗过程中儿童和成人患者的生活质量（QoL）。对26例接受诺西那生钠治疗的SMA患者进行了总体生活质量（gQoL）、健康相关生活质量（HRQoL）和抑郁程度的评估。在治疗的前6个月内进行了三次评估。采用了不同的问卷：用于评估gQoL的既往比较自我评估（ACSA）、用于评估成人患者HRQoL的简明健康调查36项量表（SF - 36）以及用于评估抑郁程度的肌萎缩侧索硬化症抑郁量表12项（ADI - 12）。样本与22名健康对照进行了匹配。尽管存在严重的身体限制，但患者在研究开始时报告的生活质量水平较高，抑郁程度较低。疾病早期发作和较低的身体功能水平与较好的gQoL和较低的抑郁程度相关。在研究过程中，患者的gQoL明显下降。不过，成年患者报告其感知健康状况有显著改善。我们的研究首次表明，SMA患者在治疗开始时的gQoL优于健康对照。这可能表明患者对治疗抱有很高的希望和期望。在治疗过程中，gQoL恢复到与健康对照相似的水平。
