Division of Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, Canada.
Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Pediatr Pulmonol. 2024 Nov;59(11):2839-2849. doi: 10.1002/ppul.27140. Epub 2024 Jun 21.
There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first 2 years of life.
Active surveillance of RS throughout UK/Ireland via the British Paediatric Surveillance Unit and nationally commissioned cleft services. Clinical data were collected at initial notification and 12-month follow-up.
173 infants with RS were identified, of which 47% had additional congenital anomalies or an underlying syndrome (non-isolated RS). Two-thirds (n = 119) required an airway intervention other than prone positioning: non-surgical in 84% and surgical (tracheostomy) in 16%. Nasopharyngeal airway (NPA) was the most common intervention, used in 83% (n = 99) for median 90 days (IQR 136). Surgical UAO management was associated with prolonged hospital admission, higher prevalence of neurodevelopmental delay (NDD), lower weight-for-age z-scores, and delayed oral feeding. These findings were not attributable to a higher prevalence of non-isolated RS in this group. Although more commonly associated with non-isolated RS, growth faltering was also identified in 48%, and NDD in 18%, of cases of isolated RS.
In UK/Ireland, most infants with RS are managed with NPA, and tracheostomy is reserved for refractory severe UAO. Clinical outcomes and duration of use indicate that NPA is a safe and feasible first-line approach to UAO. Longitudinal assessment of neurodevelopment and growth is imperative, including in children with isolated RS. Current variations in practice reinforce the need for evidence-based treatment guidelines.
目前，对于颅面骨发育不良（Robin 序列）患儿的上气道梗阻（UAO）管理，尚无关于治疗效果或临床结局的共识。本研究描述了英国/爱尔兰的 UAO 管理方法，并探讨了患儿特征、UAO 管理与 2 岁以内临床结局之间的关系。
通过英国儿科监测单位和全国委托的裂隙服务，对英国/爱尔兰的 Robin 序列患儿进行主动监测。在初次通知和 12 个月随访时收集临床数据。
共发现 173 例颅面骨发育不良患儿，其中 47%存在其他先天性异常或潜在综合征（非孤立性颅面骨发育不良）。三分之二（n=119）需要进行气道干预，而非单纯俯卧位：84%采用非手术治疗，16%采用手术（气管切开术）。鼻咽气道（NPA）是最常见的干预措施，83%（n=99）的患儿使用 NPA，中位数为 90 天（IQR 136）。手术 UAO 管理与住院时间延长、神经发育迟缓（NDD）患病率更高、体重年龄 Z 评分较低以及延迟经口喂养相关。这些发现与该组中非孤立性颅面骨发育不良的患病率较高无关。虽然在非孤立性颅面骨发育不良中更常见，但孤立性颅面骨发育不良患儿中也分别有 48%和 18%出现生长迟缓以及 NDD。
在英国/爱尔兰，大多数颅面骨发育不良患儿采用 NPA 治疗，气管切开术保留用于难治性严重 UAO。临床结局和使用时间表明，NPA 是治疗 UAO 的一种安全且可行的一线方法。包括孤立性颅面骨发育不良患儿在内，均需要进行神经发育和生长的纵向评估。目前实践中的差异强调了制定基于证据的治疗指南的必要性。
