University of Minnesota Medical School Twin Cities, Minneapolis, MN, USA.
Pediatric ENT and Facial Plastic Surgery, 14539Children's Hospital of Minnesota, St Paul, MN, USA.
Cleft Palate Craniofac J. 2021 Jan;58(1):84-89. doi: 10.1177/1055665620942436. Epub 2020 Jul 23.
To determine whether surgical intervention for submucous cleft palate (SMCP) is more common in children with 22q11.2 deletion syndrome (22q DS) compared to children without 22q DS.
Retrospective chart review.
Tertiary pediatric hospital and 22q11.2 DS specialty clinic.
One hundred forty-two children seen at the tertiary hospital or clinic during a 20-year period (June 1999-June 2019) with documented SMCP with and without 22q DS.
Percentage of children with SMCP with and without 22q DS requiring surgical intervention for velopharyngeal insufficiency.
Patients with 22q DS had a significantly higher frequency of SMCP repair than those without 22q DS (89.7% vs 32.0%, < .001, χ = 37.75). The odds of requiring SMCP repair were 18.6 times higher in those with 22q DS compared to those without (odds ratio = 18.6, CI = 6.1-56.6).
This study provides new evidence suggesting patients with 22q DS require SMCP surgical repair for velopharyngeal insufficiency at a significantly higher rate than those without 22q DS. As the majority of patients with 22q DS with SMCP require surgical intervention, future prospective studies looking at early versus late repair of SMCP in patients with 22q DS are needed to guide the surgical repair timeline in this population.
确定与无 22q 缺失综合征（22q DS）的儿童相比，黏膜下腭裂（SMCP）患儿行手术干预的情况是否更为常见。
回顾性病历研究。
三级儿童医院和 22q11.2 DS 专科诊所。
在 20 年期间（1999 年 6 月至 2019 年 6 月），在三级医院或诊所就诊的 142 例有记录的 SMCP 患儿，包括有和无 22q DS 的患儿。
有和无 22q DS 的 SMCP 患儿因腭咽闭合不全而行手术干预的比例。
22q DS 患儿行 SMCP 修复的频率明显高于无 22q DS 患儿（89.7% vs 32.0%，<.001，χ=37.75）。与无 22q DS 患儿相比，22q DS 患儿行 SMCP 修复的可能性高 18.6 倍（比值比=18.6，CI=6.1-56.6）。
本研究提供了新的证据，表明与无 22q DS 的患儿相比，22q DS 患儿因腭咽闭合不全而行 SMCP 手术修复的比例明显更高。由于大多数伴有 SMCP 的 22q DS 患儿需要手术干预，因此需要前瞻性研究来观察 22q DS 患儿的 SMCP 早期与晚期修复，以指导该人群的手术修复时间。
