Kennedy William P, Mudd Pamela A, Maguire Meg A, Souders Margaret C, McDonald-McGinn Donna M, Marcus Carole L, Zackai Elaine H, Solot Cynthia B, Mason Thornton B Alexander, Jackson Oksana A, Elden Lisa M
Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Int J Pediatr Otorhinolaryngol. 2014 Aug;78(8):1360-4. doi: 10.1016/j.ijporl.2014.05.031. Epub 2014 Jun 6.
Otolaryngologic problems are common in the 22q11.2 deletion syndrome (DS) population. Structural anomalies and retrognathia may predispose these patients to obstructive sleep apnea (OSA). The current association of OSA in this population is not defined.
(1) Define the frequency of OSA in 22q11.2 DS patients referred for polysomnography (PSG). (2) Determine if OSA is present before and/or after surgery to correct velopharyngeal insufficiency (VPI). (3) Determine effect of prior adenotonsillectomy on OSA following VPI surgery.
Retrospective review of children treated from 2006 to 2013 in a tertiary care setting identified by ICD-9 758.32 (velocardiofacial syndrome) and 279.11 (DiGeorge syndrome). Surgical history and PSG data were abstracted from the identified records.
We identified 323 patients with 22q11.2 DS; 57 (18%) were screened at any point in care using PSG and 15 patients had PSG at multiple time points in care. In most cases, indication for PSG was sleep disordered breathing or pre-operative planning. Overall, 33 patients met criteria for OSA on PSG, accounting for 10.2% of our study population; however, the percentage of patients with OSA was significantly higher within the group of 57 patients (58%) who were screened with PSG. Twenty-one of the screened patients (54%) had PSG prior to any pharyngeal surgery and had mild to severe OSA (obstructive apnea/hypopnea index (AHI): median 5.1/h, range 1.9-25.6). Eighteen patients had PSG after adenotonsillectomy; 8 of these patients (44%) had mild to moderate OSA (median AHI 2.95/h, range 1.9-5.4). Seventeen patients had PSG after VPI surgery (palatopharyngeal flap (PPF) n=16, sphincteroplasty n=1). Nine of these patients (53%) had mild to severe OSA (median AHI 3/h, range 1.9-15). Patients who underwent adenotonsillectomy prior to VPI surgery had similar prevalence of OSA (50%, n=12) than those who did not (OSA: 60%, n=5, p=0.70). Most children had mild OSA.
Prevalence of OSA in this population of 22q11.2 DS patients is higher than expected in the general population. OSA risk is highest after VPI surgery, and may be decreased by adenotonsillectomy. Providers should have awareness of increased prevalence of OSA in patients with 22q11.2 DS. Close monitoring for OSA is warranted given the likelihood of subsequent surgical intervention that can worsen OSA.
耳鼻喉科问题在22q11.2缺失综合征（DS）人群中很常见。结构异常和下颌后缩可能使这些患者易患阻塞性睡眠呼吸暂停（OSA）。目前该人群中OSA的关联尚不明确。
（1）确定接受多导睡眠图（PSG）检查的22q11.2 DS患者中OSA的发生率。（2）确定在矫正腭咽闭合不全（VPI）的手术前后是否存在OSA。（3）确定既往腺样体扁桃体切除术对VPI手术后OSA的影响。
回顾性分析2006年至2013年在三级医疗机构接受治疗的儿童，通过ICD - 9编码758.32（心脏颜面综合征）和279.11（迪乔治综合征）进行识别。从识别出的记录中提取手术史和PSG数据。
我们识别出323例22q11.2 DS患者；57例（18%）在护理的任何阶段接受了PSG筛查，15例患者在护理的多个时间点接受了PSG检查。在大多数情况下，PSG检查的指征是睡眠呼吸障碍或术前规划。总体而言，33例患者PSG符合OSA标准，占我们研究人群的10.2%；然而，在接受PSG筛查的57例患者组中，OSA患者的百分比显著更高（58%）。21例接受筛查的患者（54%）在任何咽部手术前接受了PSG检查，患有轻度至重度OSA（阻塞性呼吸暂停/低通气指数（AHI）：中位数5.1次/小时，范围1.9 - 25.6）。18例患者在腺样体扁桃体切除术后接受了PSG检查；其中8例患者（44%）患有轻度至中度OSA（中位数AHI 2.95次/小时，范围1.9 - 5.4）。17例患者在VPI手术后接受了PSG检查（腭咽瓣（PPF）手术16例，括约肌成形术1例）。其中9例患者（53%）患有轻度至重度OSA（中位数AHI 3次/小时，范围1.9 - 15）。在VPI手术前行腺样体扁桃体切除术的患者中OSA的患病率（50%，n = 12）与未行该手术的患者（OSA：60%，n = 5，p = 0.70）相似。大多数儿童患有轻度OSA。
该22q11.2 DS患者人群中OSA的患病率高于一般人群预期。VPI手术后OSA风险最高，腺样体扁桃体切除术可能降低该风险。医疗服务提供者应意识到22q11.2 DS患者中OSA患病率增加。鉴于后续手术干预可能使OSA恶化，对OSA进行密切监测是必要的。
