PDF(Pubmed)
Abstract：
Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. To address this, the European Achondroplasia Forum has developed a patient-held checklist to support adults with achondroplasia in managing their health. The checklist highlights key symptoms of spinal stenosis and obstructive sleep apnoea, both among the most frequent and potentially severe medical complications in adults with achondroplasia. The checklist acts as a framework to support individuals and their primary care provider in completing a routine review. General advice on issues such as blood pressure, pain, hearing, weight, adaptive aids, and psychosocial aspects are also included. The checklist provides key symptoms to be aware of, in addition to action points so that people can approach their primary care provider and be directed to the appropriate specialist, if needed. Additionally, the European Achondroplasia Forum offers some ideas on implementing the checklist during the transition from paediatric to adult care, thus ensuring the existing multidisciplinary team model in place during childhood can support in engaging individuals and empowering them to take responsibility for their own care as they move into adulthood.
摘要：
软骨发育不全是一种需要终身管理的终身疾病。人们一致认为，患有软骨发育不全的婴儿和儿童应由经验丰富的多学科团队进行管理。然而,从儿科护理过渡到成人护理后，许多人失去了随访，成年人的管理没有标准化的方法，尽管最近有国际共识准则。为了解决这个问题，欧洲软骨发育不全论坛制定了一份由患者持有的检查表,以支持软骨发育不全的成年人管理他们的健康.检查表强调了椎管狭窄和阻塞性睡眠呼吸暂停的主要症状，这两者都是成人软骨发育不全最常见和潜在严重的医学并发症。该清单充当支持个人及其初级保健提供者完成例行审查的框架。关于血压等问题的一般建议，疼痛,听力,体重,适应性辅助工具，和社会心理方面也包括在内。检查表提供了要注意的关键症状，除了行动点，以便人们可以接近他们的初级保健提供者，并被引导到适当的专家，如果需要。此外,欧洲软骨发育不良论坛提供了一些在从儿科到成人护理过渡期间实施清单的想法，因此，确保童年时期现有的多学科团队模式可以支持个人参与进来，并赋予他们在成年后对自己的照顾负责。
