Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, NSW, 2031, Australia.
Department of Neurology, Westmead Hospital and Western Clinical School, University of Sydney, Sydney, Australia.
Orphanet J Rare Dis. 2020 Mar 12;15(1):70. doi: 10.1186/s13023-020-1339-3.
Spinal muscular atrophy (SMA) is a neurodegenerative disease that has a substantial and multifaceted burden on affected adults. While advances in supportive care and therapies are rapidly reshaping the therapeutic environment, these efforts have largely centered on pediatric populations. Understanding the natural history, care pathways, and patient-reported outcomes associated with SMA in adulthood is critical to advancing health policy, practice and research across the disease spectrum. The aim of this study was to systematically review research investigating the healthcare, well-being and lived experiences of adults with SMA.
In accordance with the Preferred Reported Items for Systematic Reviews and Meta-Analysis guidelines, seven electronic databases were systematically searched until January 2020 for studies examining clinical (physical health, natural history, treatment) and patient-reported (symptoms, physical function, mental health, quality of life, lived experiences) outcomes in adults with SMA. Study risk of bias and the level of evidence were assessed using validated tools.
Ninety-five articles met eligibility criteria with clinical and methodological diversity observed across studies. A heterogeneous clinical spectrum with variability in natural history was evident in adults, yet slow declines in motor function were reported when observational periods extended beyond 2 years. There remains no high quality evidence of an efficacious drug treatment for adults. Limitations in mobility and daily activities associated with deteriorating physical health were commonly reported, alongside emotional difficulties, fatigue and a perceived lack of societal support, however there was no evidence regarding effective interventions.
This systematic review identifies the many uncertainties regarding best clinical practice, treatment response, and long-term outcomes for adults with SMA. This comprehensive identification of the current gaps in knowledge is essential to guide future clinical research, best practice care, and advance health policy with the ultimate aim of reducing the burden associated with adult SMA.
脊髓性肌萎缩症（SMA）是一种神经退行性疾病，对患病成年人造成了巨大的、多方面的负担。尽管支持性护理和治疗方法的进步正在迅速改变治疗环境，但这些努力主要集中在儿科人群。了解成年期 SMA 的自然史、护理途径和患者报告的结果对于推进整个疾病谱的卫生政策、实践和研究至关重要。本研究旨在系统回顾研究 SMA 成年患者的医疗保健、幸福感和生活体验的研究。
根据系统评价和荟萃分析首选报告项目的规定，系统地检索了 7 个电子数据库，直到 2020 年 1 月，以寻找检查成年 SMA 患者临床（身体健康、自然史、治疗）和患者报告（症状、身体功能、心理健康、生活质量、生活体验）结果的研究。使用经过验证的工具评估研究的偏倚风险和证据水平。
95 篇文章符合入选标准，研究间存在临床和方法学的多样性。成年人的临床表型具有异质性，且自然史存在变异性，但当观察期超过 2 年时，运动功能的缓慢下降得到了报告。目前仍缺乏针对成年人有效的药物治疗的高质量证据。与身体功能恶化相关的移动性和日常活动受限，以及情绪困难、疲劳和社会支持不足的感知，常被报道，但关于有效的干预措施，尚无证据。
本系统评价确定了许多关于 SMA 成年患者最佳临床实践、治疗反应和长期结果的不确定性。全面了解当前知识差距对于指导未来的临床研究、最佳实践护理和推进卫生政策至关重要，最终目标是减轻与成年 SMA 相关的负担。
