Background: this study aimed to estimate the economic impact and health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in three European countries. It was used a cross-sectional study carried out in France, Germany, and the United Kingdom. Data were collected from July 2015 to November 2015. Healthcare costs (hospitalizations, emergencies, medical tests, drugs used, visits to general practitioners (GPs) and specialists, medical material and healthcare transport), and non-healthcare costs (social services and informal care) were identified and valued. EuroQol instruments, the Zarit interview, and the Barthel Index were also used to reflect the burden and the social impact of the disease beyond the cost of healthcare. Results: we included 86 children with SMA, 26.7% of them had Type I, and 73.3% Type II or III. The annual average cost associated with SMA reaches €54,295 in the UK, €32,042 in France and €51,983 in Germany. The direct non-healthcare costs ranged between 79–86% of the total cost and the informal care costs were the main component of these costs. Additionally, people suffering from this disease have a very low health-related quality of life, and there are large differences between countries. Conclusions: SMA has a high socioeconomic impact in terms of healthcare and social costs. It was also observed that the HRQOL of affected children was extremely reduced. The figures shown in this study may help to design more efficient and equitable policies, with special emphasis on the support provided to the families or on non-healthcare aid.

中文翻译：

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脊髓性肌萎缩症的经济影响和与健康有关的生活质量。整个欧洲的分析。

背景：本研究旨在评估三个欧洲国家脊柱肌萎缩症（SMA）患者的经济影响和与健康相关的生活质量（HRQOL）。在法国，德国和英国进行了横断面研究。收集了2015年7月至2015年11月的数据。医疗保健费用（住院，紧急情况，医疗检查，使用的药物，全科医生（GPs）和专科医生的就诊，医疗材料和医疗保健运输）以及非医疗保健费用（社会服务和非正式医疗费用）护理）并得到重视。EuroQol工具，Zarit访谈和Barthel指数还用于反映疾病负担和医疗影响之外的社会影响。结果：我们纳入了86名SMA儿童，其中26.7％患有I型，73.3％患有II型或III型。与SMA相关的年平均成本在英国达到54,295欧元，在法国达到32,042欧元，在德国达到51,983欧元。直接的非医疗费用占总费用的79-86％，非正式护理费用是这些费用的主要组成部分。此外，患有这种疾病的人与健康相关的生活质量非常低，而且各国之间存在很大差异。结论：SMA在医疗保健和社会成本方面具有很高的社会经济影响。还观察到受影响儿童的HRQOL大大降低。这项研究中显示的数字可能有助于设计更有效和公平的政策，特别着重于向家庭提供的支持或非保健援助。