22q11.2 缺失综合征与非综合征性唇腭裂患儿咽瓣结局的对比研究。

Comparative Study of Pharyngeal Flap Outcomes between Children with 22q11.2 Deletion Syndrome and Nonsyndromic Cleft Lip and Palate.

机构信息

From Harvard Medical School.

the Departments of Otolaryngology and Communication Enhancement.

出版信息

Plast Reconstr Surg. 2024 Jul 1;154(1):151-160. doi: 10.1097/PRS.0000000000010854. Epub 2023 Jun 20.

DOI:10.1097/PRS.0000000000010854

PMID:37337330

Abstract

BACKGROUND

Management of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome is challenging. The authors compared pharyngeal flap outcomes in children with 22q11.2 deletion syndrome to those with nonsyndromic cleft lip and palate (CLP) to assess risk of poor speech outcomes and negative sequelae.

METHODS

Children with 22q11.2 deletion syndrome or CLP treated with pharyngeal flap through a multidisciplinary VPI clinic between 2009 and 2020 were retrospectively reviewed. Preoperative and postoperative speech assessments, perioperative characteristics, and complications were identified.

RESULTS

Thirty-six children with 22q11.2 deletion syndrome and 40 with CLP were included. Age at surgery ( P = 0.121), preoperative velopharyngeal competence score ( P = 0.702), and preoperative resonance ( P = 0.999) were similar between groups. Pharyngeal flaps were wider ( P = 0.038) and length of stay longer in the 22q11.2 deletion syndrome group ( P = 0.031). On short-term follow-up 4 months after surgery, similar speech outcomes were seen between groups. At long-term follow-up greater than 12 months after surgery, 86.7% of 22q11.2 deletion syndrome versus 100% of CLP ( P = 0.122) children had improvement in velopharyngeal function; however, fewer children with 22q11.2 deletion syndrome (60.0%) achieved a completely "competent" velopharyngeal competence score compared with those with CLP (92.6%) ( P = 0.016). Nasal regurgitation improved for both groups, with a greater improvement in those with 22q11.2 deletion syndrome ( P = 0.026). Revision rate ( P = 0.609) and new-onset obstructive sleep apnea ( P = 0.999) were similar between groups.

CONCLUSIONS

Children with 22q11.2 deletion syndrome have improved speech after pharyngeal flap, but they may be less likely to reach normal velopharyngeal function over the long term than those with CLP; however, negative sequelae do not differ. Improvement in nasal regurgitation is a uniquely positive outcome in this population.

CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

摘要

背景

22q11.2 缺失综合征患者的软腭咽闭合不全（VPI）管理具有挑战性。作者比较了患有 22q11.2 缺失综合征和非综合征性唇腭裂（CLP）的儿童行咽成形术后的结果，以评估其发生不良语音结局和负面后遗症的风险。

方法

回顾性分析了 2009 年至 2020 年间在多学科 VPI 诊所接受咽成形术治疗的患有 22q11.2 缺失综合征或 CLP 的儿童的病例。评估了术前和术后的语音评估、围手术期特征和并发症。

结果

共纳入 36 例 22q11.2 缺失综合征患儿和 40 例 CLP 患儿。手术时的年龄（ P = 0.121）、术前软腭闭合能力评分（ P = 0.702）和术前共鸣（ P = 0.999）在两组间无显著差异。22q11.2 缺失综合征组的咽成形术更宽（ P = 0.038），住院时间更长（ P = 0.031）。术后 4 个月的短期随访中，两组间的语音结局相似。术后 12 个月以上的长期随访中，86.7%的 22q11.2 缺失综合征患儿（ P = 0.122）和 100%的 CLP 患儿（ P = 0.122）的软腭咽闭合功能得到改善；然而，与 CLP 患儿（92.6%）相比，22q11.2 缺失综合征患儿（60.0%）达到完全“正常”软腭闭合能力评分的比例更低（ P = 0.016）。两组的鼻反流均有所改善，22q11.2 缺失综合征组的改善更明显（ P = 0.026）。两组间的翻修率（ P = 0.609）和新发阻塞性睡眠呼吸暂停（ P = 0.999）无显著差异。