脊柱肌肉缩 最佳实践中的更新:诊断方面的建议 考虑因素
Mary Schroth1, Jennifer Deans1, Kapil Arya1
1Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.
脊椎肌肉缩 (SMA) 诊断的最新最佳实践现在包括新生儿查 (NBS). 这些指导方针确保婴儿的早期检测和获得护理,并解决成人开始的SMA诊断的差距.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 脊髓肌肉缩 (SMA) 是一种由SMN1基因变异引起的渐进性神经退行性疾病.
- 最近疾病修饰疗法和新生儿查 (NBS) 的进展需要更新的诊断指南.
- 对于SMA诊断现有的最佳实践建议需要重新评估.
研究的目的:
- 更新SMA诊断的最佳实践建议,包括新生儿查.
- 根据新的治疗方法,重新评估SMA的当前分类.
- 探索改善成人发病的SMA的诊断方法.
主要方法:
- 关于SMA NBS的系统文献综述.
- 修改了Delphi技术,包括专家调查和虚拟会议.
- 社区工作组来自SMA患者和护理人员的投入.
主要成果:
- 达成共识,将SMA NBS纳入更新的最佳诊断实践中是必要的.
- 为表征NBS识别的婴儿,启动NBS计划和建立专业护理中心制定了建议.
- 目前,对于有效诊断成人发病的SMA的数据有限.
结论:
- 更新SMA诊断指南以包括NBS对于推进患者护理至关重要.
- 积极的NBS结果的有效管理,包括获得专家护理和治疗,对于早期诊断至关重要.
- 需要进一步的研究来加强成人发病的SMA的诊断.
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