TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Independent, Perth, WA, Australia.
Orphanet J Rare Dis. 2022 Aug 20;17(1):318. doi: 10.1186/s13023-022-02479-3.
Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.
Most HCP respondents followed up more children than adults, and 8/15 responded that individuals did not transition to an adult multidisciplinary team (MDT) after paediatric care. Of 10 PAG respondents, none considered the experience of transition to adult services as good or very good and 50% considered it to be poor or very poor. A total of 64% (7/11) described the coordination of transition to adult services as "Not satisfactory" or "Poor". HCPs and PAG representatives largely agreed on the core specialists involved in adult care (orthopaedic surgeons, physiotherapists, rehabilitation specialists, rheumatologists, clinical geneticists). However, there was a discrepancy in the understanding of healthcare needs outside of this, with PAG representatives selecting neurosurgeons and genetic counsellors, while HCPs selected pulmonologists and obstetricians/gynaecologists. There was agreement between HCP and PAG respondents on the key barriers to effective care of adults with achondroplasia, with lack of an adult MDT, lack of interest from individuals in accessing care, and less experience in adult than paediatric MDTs ranking highly.
This study indicates that the care and follow up of adults with achondroplasia is challenging. Individuals are often lost to, or decline, follow up as they leave paediatric care, and it is largely unknown how, where, and why adults with achondroplasia access care later in life. Lifelong, multidisciplinary specialist care led by an identified physician should be accessible to all individuals with achondroplasia. It is important to ensure barriers to optimal care are addressed to enable access to appropriate care for all individuals with achondroplasia.
软骨发育不全症是一种遗传性疾病，可在整个生命周期中引起并发症。虽然儿童时期的并发症已有详细记载，但直到最近，软骨发育不全症在成年人中的自然病史相对缺乏，人们对他们所接受的护理知之甚少，也不知道他们如何获得这些护理。欧洲软骨发育不全症论坛进行了两项探索性调查，一项针对医疗保健专业人员（HCP），一项针对患者倡导团体（PAG）代表，以了解患有软骨发育不全症的个体从儿科向成人服务过渡过程中的当前实践以及成年人如何看待他们的护理。
大多数 HCP 受访者随访的儿童多于成年人，15 名受访者中有 8 名表示，个体在儿科护理后并未过渡到成人多学科团队（MDT）。在 10 名 PAG 受访者中，没有一人认为过渡到成人服务的体验良好或非常好，50%的人认为体验不佳或非常差。共有 64%（7/11）的人将过渡到成人服务的协调描述为“不满意”或“差”。HCP 和 PAG 代表在涉及成人护理的核心专家方面基本达成一致（骨科医生、物理治疗师、康复专家、风湿病专家、临床遗传学家）。然而，他们在这之外的医疗保健需求方面存在理解上的差异，PAG 代表选择神经外科医生和遗传咨询师，而 HCP 代表选择肺科医生和妇产科医生/妇科医生。HCP 和 PAG 受访者在有效治疗软骨发育不全症成年人的关键障碍方面达成一致，缺乏成人 MDT、个体对获得护理缺乏兴趣以及成人 MDT 的经验少于儿科 MDT 等因素被高度重视。
这项研究表明，软骨发育不全症成年人的护理和随访具有挑战性。个体在离开儿科护理后往往会失去或拒绝随访，而且人们对成年后软骨发育不全症患者如何、在哪里以及为何获得护理知之甚少。所有软骨发育不全症患者都应获得由指定医生领导的终生多学科专家护理。重要的是要确保解决最佳护理的障碍，以使所有软骨发育不全症患者都能获得适当的护理。
