Wang Ching H, Finkel Richard S, Bertini Enrico S, Schroth Mary, Simonds Anita, Wong Brenda, Aloysius Annie, Morrison Leslie, Main Marion, Crawford Thomas O, Trela Anthony
Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford, California 94305-5235, USA.
J Child Neurol. 2007 Aug;22(8):1027-49. doi: 10.1177/0883073807305788.
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of treatment effects during clinical trials. The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of these patients. The 12 core committee members worked with more than 60 spinal muscular atrophy experts in the field through conference calls, e-mail communications, a Delphi survey, and 2 in-person meetings to achieve consensus on 5 care areas: diagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care. Consensus was achieved on several topics related to common medical problems in spinal muscular atrophy, diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. A consensus statement was drafted to address the 5 care areas according to 3 functional levels of the patients: nonsitter, sitter, and walker. The committee also identified several medical practices lacking consensus and warranting further investigation. It is the authors' intention that this document be used as a guideline, not as a practice standard for their care. A practice standard for spinal muscular atrophy is urgently needed to help with the multidisciplinary care of these patients.
脊髓性肌萎缩症是一种需要多学科医疗护理的神经退行性疾病。在脊髓性肌萎缩症分子发病机制的理解方面取得的最新进展以及医疗技术的进步，并未在脊髓性肌萎缩症患者护理方面有类似的发展与之匹配。医疗实践的差异，再加上家庭资源和价值观的不同，导致了临床结果的差异，这很可能会影响临床试验中治疗效果的有效评估。脊髓性肌萎缩症国际护理标准委员会于2005年成立，目标是为这些患者的临床护理制定实践指南。12名核心委员会成员通过电话会议、电子邮件通信、德尔菲调查以及2次面对面会议，与该领域60多名脊髓性肌萎缩症专家合作，就5个护理领域达成共识：诊断/新干预措施、肺部、胃肠道/营养、骨科/康复以及姑息治疗。就与脊髓性肌萎缩症常见医疗问题、诊断策略、评估和监测建议以及每个护理领域的治疗干预措施相关的几个主题达成了共识。根据患者的3种功能水平：非坐立者、坐立者和行走者，起草了一份共识声明以涵盖这5个护理领域。委员会还确定了一些缺乏共识且有待进一步研究的医疗实践。作者的意图是将本文件用作指南，而非他们护理的实践标准。迫切需要脊髓性肌萎缩症的实践标准来帮助对这些患者进行多学科护理。
