Failla Sebastiano, You Peng, Rajakumar Chandheeb, Dworschak-Stokan Anne, Doyle Philip C, Husein Murad
Voice Production and Perception Laboratory, Rehabilitation Sciences, Western University, London, Ontario, Canada.
Department of Otolaryngology-Head and Neck Surgery, Children's Hospital, London Health Sciences Center, Western University - Schulich School of Medicine, Victoria Campus, 800 Commissioners Road East, London, ON, N6A 5W9, Canada.
J Otolaryngol Head Neck Surg. 2020 Jul 31;49(1):54. doi: 10.1186/s40463-020-00451-4.
To identify and describe the dynamic features of velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome relative to patients with non-syndromic cleft palates.
Retrospective case-control study.
Pediatric tertiary care center.
A total of 30 children (aged 9-16 years) with VPD were included in this study. Fifteen children with a definitive diagnosis of 22q11.2 deletion syndrome requiring surgical VPD repair were included in the 22q11.2 deletion syndrome group. Fifteen age- and sex-matched children with non-syndromic cleft palate requiring surgical VPD repair were included in the non-syndromic cleft palate group for comparison. Velar displacement, lateral pharyngeal wall displacement, and lateral pharyngeal wall motion pattern data were extracted from preoperative Multiview Videofluoroscopy imaging studies of all children and compared across groups.
Lateral pharyngeal wall displacement was found to be reduced in the 22q11.2 deletion syndrome group (U = 29.50, p = .001, r = .63). However, measures of velar displacement were not observed to differ between groups. Similarly, lateral pharyngeal wall motion pattern distributions were not found to differ across these two groups.
Velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome showed differences in dynamic velopharyngeal function when compared to non-syndromic cleft palate patients. The current findings provide initial insights into the unique aspects of velopharyngeal dysfunction for patients with 22q11.2 deletion syndrome. These findings may guide further efforts directed toward understanding the dynamic velopharyngeal characteristics of this population and potentially optimize surgical management and functional outcomes.
识别并描述22q11.2缺失综合征患者相对于非综合征性腭裂患者腭咽功能障碍（VPD）的动态特征。
回顾性病例对照研究。
儿科三级护理中心。
本研究共纳入30例患有VPD的儿童（年龄9 - 16岁）。22q11.2缺失综合征组纳入15例确诊为22q11.2缺失综合征且需要进行VPD手术修复的儿童。非综合征性腭裂组纳入15例年龄和性别匹配、需要进行VPD手术修复的非综合征性腭裂儿童以作比较。从所有儿童术前的多视角电视荧光透视成像研究中提取腭位移、咽侧壁位移和咽侧壁运动模式数据，并进行组间比较。
发现22q11.2缺失综合征组的咽侧壁位移减少（U = 29.50，p = 0.001，r = 0.63）。然而，未观察到两组之间腭位移的测量值存在差异。同样，未发现这两组之间咽侧壁运动模式分布存在差异。
与非综合征性腭裂患者相比，22q11.2缺失综合征患者的腭咽功能障碍在动态腭咽功能方面存在差异。目前的研究结果为22q11.2缺失综合征患者腭咽功能障碍的独特方面提供了初步见解。这些发现可能会指导进一步努力，以了解该人群的动态腭咽特征，并有可能优化手术管理和功能结果。
