Department of Otolaryngology, Vanderbilt University Medical Center , Nashville, TN , USA.
Front Pediatr. 2014 Aug 11;2:84. doi: 10.3389/fped.2014.00084. eCollection 2014.
Surgical treatment of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome is often warranted. In this patient population, VPI is characterized by poor palatal elevation and muscular hypotonia with an intact palate. We hypothesize that 22q11.2 deletion patients are at greater risk of obstructive sleep apnea (OSA) after surgical correction of VPI, due, in part, to their functional hypotonia, large velopharyngeal gap size, and the need to surgically obstruct the velopharynx.
We performed a retrospective analysis of patients with 22q11.2 deletion syndrome treated at a tertiary pediatric hospital between the years of 2002 and 2012. The incidence of VPI, need for surgery, post-operative polysomnogram, post-operative VPI assessment, and OSA treatments were evaluated.
Forty-three patients (18 males, 25 females, ages 1-14 years) fitting the inclusion criteria were identified. Twenty-eight patients were evaluated by speech pathology due to hypernasality. Twenty-one patients had insufficient velopharyngeal function and required surgery. Fifteen underwent pharyngeal flap surgery, three underwent sphincter pharyngoplasty, two underwent Furlow palatoplasty, and one underwent combined sphincter pharyngoplasty with Furlow palatoplasty. Of these, eight had post-operative snoring. Six of these underwent polysomnography (five underwent pharyngeal flap surgeries and one underwent sphincter pharyngoplasty). Four patients were found to have OSA based on the results of the polysomnography (average apnea/hypopnea index of 4.9 events/h, median = 5.1, SD = 2.1). Two required continuous positive airway pressure (CPAP) due to moderate OSA.
Surgery is often necessary to correct VPI in patients with 22q11.2 deletion syndrome. Monitoring for OSA should be considered after surgical correction of VPI due to a high occurrence in this population. Furthermore, families should be counseled of the risk of OSA after surgery and the potential need for treatment with CPAP.
22q11.2 缺失综合征患者常需要进行腭咽闭合不全（VPI）的手术治疗。该患者群体的 VPI 表现为腭帆提肌无力和低张，软腭完整。我们假设，由于功能低下、咽腔宽大、需要手术关闭咽腔，22q11.2 缺失患者在 VPI 手术后发生阻塞性睡眠呼吸暂停（OSA）的风险更高。
我们对 2002 年至 2012 年在一家三级儿童医院接受治疗的 22q11.2 缺失综合征患者进行了回顾性分析。评估了 VPI 的发生率、手术需求、术后多导睡眠图、术后 VPI 评估和 OSA 治疗情况。
确定了符合纳入标准的 43 名患者（18 名男性，25 名女性，年龄 1-14 岁）。28 名患者因鼻音过重接受言语病理学评估。21 名患者腭咽功能不全，需要手术。15 名患者行咽成形术，3 名患者行咽括约肌成形术，2 名患者行 Furlow 腭裂修补术，1 名患者行咽括约肌成形术联合 Furlow 腭裂修补术。其中 8 名患者术后打鼾。这 8 名患者中，有 6 名进行了多导睡眠图检查（5 名接受咽成形术，1 名接受咽括约肌成形术）。根据多导睡眠图结果，有 4 名患者被诊断为 OSA（平均呼吸暂停/低通气指数为 4.9 次/小时，中位数=5.1，标准差=2.1）。其中 2 名患者因中度 OSA 需要持续气道正压通气（CPAP）。
22q11.2 缺失综合征患者常需要手术来纠正 VPI。由于该人群中 OSA 的发生率较高，因此在 VPI 手术后应考虑监测 OSA。此外，应向患者家属告知手术后 OSA 的风险以及可能需要 CPAP 治疗。
