Department of Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Kids Rehab, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
J Paediatr Child Health. 2023 Feb;59(2):229-241. doi: 10.1111/jpc.16290. Epub 2023 Jan 11.
Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia.
软骨发育不全是最常见的骨骼发育不良形式。除了生长改变外,患有软骨发育不全的儿童和青少年可能会出现医疗并发症,与其他人的发育和功能不同,需要心理社会支持。已经制定了国际、欧洲和美国的软骨发育不全管理共识指南。这里呈现的澳大利亚重点指南旨在补充这些现有的指南。它们旨在为家庭和临床医生提供核心护理建议,整合管理软骨发育不全儿童的关键资源,促进专家、当地团队和家庭之间的沟通,并支持在任何环境和地理位置下提供高质量的护理。这些指南包括一系列使用改良 Delphi 过程制定的共识声明。这些声明得到了最佳可用证据的支持,这些证据是根据国家卫生和医学研究委员会的证据水平标准及其推荐评估、制定和评估(GRADE)进行评估的。此外,还提出了特定年龄的指南,重点关注生长、医疗、发育、心理社会和社区等关键领域。这些指南供澳大利亚的医疗保健专业人员、患有软骨发育不全的儿童和青少年及其家庭使用。