Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
J Clin Sleep Med. 2019 Mar 15;15(3):375-381. doi: 10.5664/jcsm.7656.
Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder that includes a spectrum of clinical findings including macroglossia, especially in those with loss of methylation at the imprinting control region (IC2 LOM) on chromosome 11. Children with BWS can have very severe obstructive sleep apnea (OSA), but the prevalence of OSA in this population is poorly understood, as is the relationship between OSA and the BWS genotype/phenotype. We hypothesized that there would be a high prevalence of OSA in children with BWS, and that OSA would be more severe in children with IC2 LOM.
Medical records from children evaluated from March 2015 through January 2018 were reviewed for results from polysomnography, genetic testing, and clinical assessment.
A total of 26 children with BWS not previously treated for OSA underwent polysomnography, genetic testing, and clinical assessment. Median (range) age was 5 months (3 days to 33 months). Most children, 20 (76.9%), had an obstructive apnea-hypopnea index (OAHI) > 2 events/h. Median (range) OAHI was 4.4 events/h (0 to 56.1 events/h). OAHI was significantly greater in participants younger than 6 months compared with those older than 6 months ( = .008). Those with IC2 LOM did not have a greater OAHI ( = .61) than those with other genetic causes of BWS, but OAHI had a strong positive correlation with BWS clinical score (Spearman rho = .54, = .004).
There is a high prevalence of OSA in children with BWS with macroglossia. Younger children with BWS and those with more phenotypic features may be at greatest risk of OSA.
贝克威思-威德曼综合征（BWS）是一种罕见的儿科过度生长障碍，包括一系列临床发现，包括巨舌症，特别是在 11 号染色体印迹控制区（IC2 LOM）去甲基化的患者中。患有 BWS 的儿童可能患有非常严重的阻塞性睡眠呼吸暂停（OSA），但该病患者 OSA 的患病率知之甚少，OSA 与 BWS 基因型/表型之间的关系也不清楚。我们假设 BWS 儿童的 OSA 患病率会很高，并且在具有 IC2 LOM 的儿童中 OSA 会更严重。
对 2015 年 3 月至 2018 年 1 月接受评估的患有 BWS 且未接受过 OSA 治疗的儿童的病历进行了回顾性分析，以评估其多导睡眠图、基因检测和临床评估结果。
共有 26 名未接受过 OSA 治疗的 BWS 儿童接受了多导睡眠图、基因检测和临床评估。中位（范围）年龄为 5 个月（3 天至 33 个月）。大多数儿童（76.9%）的阻塞性呼吸暂停低通气指数（OAHI）＞2 次/小时。中位（范围）OAHI 为 4.4 次/小时（0 至 56.1 次/小时）。与 6 个月以上的儿童相比，6 个月以下的儿童 OAHI 显著更高（ =.008）。具有 IC2 LOM 的儿童的 OAHI 并不大于具有其他 BWS 遗传原因的儿童（ =.61），但 OAHI 与 BWS 临床评分呈强正相关（Spearman rho =.54， =.004）。
患有巨舌症的 BWS 儿童中 OSA 的患病率很高。BWS 且具有更多表型特征的年幼儿童可能面临最大的 OSA 风险。
