Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, VIC, Parkville, Australia.
Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA, USA.
Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.
Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes.
A panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. Those recommendations with more than 80% agreement were considered as consensual.
After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%).
Consensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias.
骨骼发育不良是一组异质性的遗传性疾病，包括骨骼发育、生长和维持的障碍。由于其相对罕见和表型的广泛变异性，患者应通过了解其潜在并发症并具备有效治疗知识和资源的临床医生进行准确识别、统一评估和管理。本研究提出了旨在改善 II 型胶原骨骼疾病患者的诊断和管理以优化临床结局的专家指南。
11 名骨骼发育不良领域的多学科国际专家组成小组，参与了 Delphi 流程，包括对全面文献综述进行分析，随后生成 26 项诊断和护理建议，然后进行两轮匿名投票，并在中间举行一次面对面会议。那些获得超过 80%一致意见的建议被认为是一致的。
第一轮投票后，达成共识支持 26 项声明中的 12 项（46%）。经过小组讨论，专家组就 24 项修订声明中的 22 项达成一致（92%）。
基于共识的专家最佳实践指南的制定是作为一种护理标准，以帮助准确诊断，最大限度地减少相关健康风险，并改善 II 型胶原骨骼发育不良患者的临床结局。
