Fauroux Brigitte, AlSayed Moeenaldeen, Ben-Omran Tawfeg, Boero Silvio, Boon Mieke, Cormier-Daire Valérie, Fredwall Svein, Guillen-Navarro Encarna, Irving Melita, Kunkel Philip, Madureira Núria, Maghnie Mohamad, Milerad Josef, Mohnike Klaus, Mortier Geert, Nobili Lino, Pejin Zagorka, Sessa Marco, Sousa Sérgio B
AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France.
King Faisal Specialist Hospital and Research Centre in Riyadh, Riyadh, Kingdom of Saudi Arabia.
Orphanet J Rare Dis. 2025 May 15;20(1):233. doi: 10.1186/s13023-025-03717-0.
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population. SDB, which comprises obstructive sleep apnoea (OSA), more rarely central sleep apnoea (CSA), and nocturnal alveolar hypoventilation (NH), may present at any age in patients with achondroplasia. Untreated SDB is associated with neurocognitive dysfunction, cardiovascular, and metabolic complications in children and adults. There continues to be debate on the optimal assessment and management of SDB in achondroplasia. To help address this, the European Achondroplasia Forum (EAF), a network of clinicians and patient advocates representative of the achondroplasia clinical community, organised a virtual workshop in October 2023 to scrutinise, vote and agree upon five guiding principles for managing SDB in achondroplasia. This workshop was attended by 40 healthcare professionals, including clinical geneticists, general practitioners and consultants, orthodontic and orthopaedic surgeons, paediatricians, paediatric endocrinologists and pulmonologists, sleep researchers and specialists, and two patient advocacy group representatives. The five guiding principles focus on lifelong assessment and proactive management, incorporating individualised sleep studies, screening, and a stepwise approach to therapeutic management. The EAF was in favour of all guiding principles, with all achieving 100% consensus with high levels of agreement (range 8.9-9.7/10). In developing guiding principles for the management of SDB in achondroplasia, the EAF aims to facilitate optimal screening and management of SDB in infants, young children, and adults with achondroplasia.
由于软骨发育不全患者的颅面解剖结构，睡眠呼吸障碍（SDB）的发生频率高于平均身高人群。睡眠呼吸障碍包括阻塞性睡眠呼吸暂停（OSA），较少见的中枢性睡眠呼吸暂停（CSA）和夜间肺泡低通气（NH），可出现在软骨发育不全患者的任何年龄。未经治疗的睡眠呼吸障碍与儿童和成人的神经认知功能障碍、心血管和代谢并发症有关。关于软骨发育不全患者睡眠呼吸障碍的最佳评估和管理一直存在争议。为了帮助解决这一问题，欧洲软骨发育不全论坛（EAF），一个由代表软骨发育不全临床社区的临床医生和患者倡导者组成的网络，于2023年10月组织了一次虚拟研讨会，以审查、投票并就软骨发育不全患者睡眠呼吸障碍管理的五项指导原则达成一致。40名医疗保健专业人员参加了此次研讨会，包括临床遗传学家、全科医生和顾问、正畸和矫形外科医生、儿科医生、儿科内分泌学家和肺科医生、睡眠研究人员和专家，以及两名患者倡导团体代表。这五项指导原则侧重于终身评估和积极管理，包括个体化睡眠研究、筛查以及治疗管理的逐步方法。欧洲软骨发育不全论坛赞成所有指导原则，所有原则均获得100%的共识，且达成高度一致（范围为8.9 - 9.7/10）。在制定软骨发育不全患者睡眠呼吸障碍管理的指导原则时，欧洲软骨发育不全论坛旨在促进对软骨发育不全婴儿、幼儿和成人的睡眠呼吸障碍进行最佳筛查和管理。
