Castro Diana, Sejersen Thomas, Bello Luca, Buccella Filippo, Cairns Anita, Carranza-Del Río Jorge, de Groot Imelda J M, Elman Lauren, Inzani Isabella, Klein Andrea, Mayer Oscar H, Miller Hawken, Onofri Alessandro, Araújo Alexandra Prufer de Queiroz Campos, Schara-Schmidt Ulrike, Vanden Wyngaert Karsten, Ward Leanne M, Wilmshurst Jo M, Quinlivan Rosaline
Neurology & Neuromuscular Care Center/Neurology Rare Disease Center, Denton, TX, USA.
Department of Neuropediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, New Territories, Shatin, Hong Kong; European Paediatric Neurology Society (EPNS) board member and member of the EPNS Guidelines Committee, Italy.
Eur J Paediatr Neurol. 2025 Jan;54:130-139. doi: 10.1016/j.ejpn.2025.01.004. Epub 2025 Jan 11.
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder characterized by a progressive decline in muscle function, leading to loss of ambulation, respiratory and cardiac failure, and ultimately death. Improvements in DMD management have increased patient life expectancy; therefore, there is a growing requirement for patients to transfer from paediatric to adult care services. There is also a need for clear recommendations to guide this process.
To establish international consensus guidelines regarding best practices for transitioning patients with DMD from paediatric to adult care and ensuring continuity of treatment.
Consensus statements were developed using the Delphi process and scored using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The initiative was led by a steering committee (one non-voting chair and two voting members) who recruited 15 expert panellists to form the consensus group. Following an initial systematic literature search, the consensus group voted in three voting rounds. Round 1 (free-text responses to questions) and Round 2 (importance ranking of statements) were completed using an online survey. Round 3 (voting on final consensus statements) took place during a virtual consensus meeting.
Consensus was reached on 48 statements covering the topics of transition planning, the transition process, post-transfer management, communicating with young people with DMD and supporting them with the transition to adult life.
These consensus statements provide guidelines for improving transition practices for young people with DMD and promoting continued care at a comparable standard in adulthood.
杜氏肌营养不良症（DMD）是一种罕见的神经肌肉疾病，其特征是肌肉功能逐渐衰退，导致无法行走、呼吸和心力衰竭，最终死亡。DMD管理方面的改善提高了患者的预期寿命；因此，越来越多的患者需要从儿科护理服务过渡到成人护理服务。此外，还需要明确的建议来指导这一过程。
建立关于DMD患者从儿科护理过渡到成人护理并确保治疗连续性的最佳实践的国际共识指南。
使用德尔菲法制定共识声明，并使用推荐分级评估、制定和评价（GRADE）系统进行评分。该倡议由一个指导委员会（一名无投票权主席和两名有投票权成员）牵头，该委员会招募了15名专家小组成员组成共识小组。在进行初步的系统文献检索后，共识小组进行了三轮投票。第一轮（对问题的自由文本回复）和第二轮（声明的重要性排名）通过在线调查完成。第三轮（对最终共识声明进行投票）在虚拟共识会议期间进行。
就48项声明达成了共识，这些声明涵盖了过渡计划、过渡过程、转移后管理、与DMD青少年沟通以及支持他们向成年生活过渡等主题。
这些共识声明为改善DMD青少年的过渡实践以及促进成年后以可比标准持续护理提供了指导方针。
