Velopharyngeal Structural and Muscle Variations in Children With 22q11.2 Deletion Syndrome: An Unsedated MRI Study
Velopharyngeal Structural and Muscle Variations in Children With 22q11.2 Deletion Syndrome: An Unsedated MRI Study
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DOI：
10.1177/1055665619851660
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发表时间：
2019-10-01
期刊：
影响因子：
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通讯作者：
Perry, Jamie L.
中科院分区：
文献类型：
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作者：
Kollara, Lakshmi;Baylis, Adriane L.;Perry, Jamie L.
目的：22q11.2 缺失综合征 (22q11.2DS) 是腭咽功能障碍最常见的遗传原因。然而，关于这一具有临床挑战性的人群的腭咽解剖结构变化的信息有限。本研究的目的是使用创新的非镇静磁共振成像 (MRI) 扫描方案，检查 22q11.2DS 幼儿的腭咽特征，并与正常队列进行比较。方法：15 名 22q11.2DS 儿童和 15 名年龄和性别匹配且腭咽解剖结构正常的对照组（4-12 岁）成功完成了 MRI 方案。检查了 18 个腭咽部和 2 个相关的颅面测量。协方差分析用于比较实验组和对照组之间的差异。结果：与匹配的对照组相比，22q11.2DS 组表现出明显更薄的软腭 (P < .0005) 和更大的咽部深度 (P = .007)。当前研究的结果还表明，与健康同龄人相比，22q11.2DS 队列中的提腭帆肌显着更短 (P = .037) 和更薄 (P = .025)，起点到起点距离显着更短 (P < .0005) 和更大的起点角度 (P = .001)。结论：患有 22q11.2DS 的儿童表现出多种变异，这些变异可能通过改变腭咽口、提肌和相关结构的解剖特征而导致腭咽功能障碍。这项研究是使用非镇静 MRI 方案来表征 22q11.2DS 儿童腭咽解剖结构的首次也是最大的尝试。
Objective: The 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic cause of velopharyngeal dysfunction; however, limited information exists regarding variations in velopharyngeal anatomy in this clinically challenging population. The purpose of this study was to examine velopharyngeal characteristics among young children with 22q11.2DS in comparison to a normative cohort using an innovative, nonsedated magnetic resonance imaging (MRI) scanning protocol. Methods: Fifteen children with 22q11.2DS and 15 age- and gender-matched controls with normal velopharyngeal anatomy (ages 4-12) successfully completed the MRI protocol. Eighteen velopharyngeal and 2 related craniofacial measures were examined. Analysis of covariance was used to compare differences between the experimental and the control groups. Results: The 22q11.2DS group demonstrated a significantly thinner velum (P < .0005) and a larger pharyngeal depth (P = .007) compared to the matched control group. Findings in the current study also demonstrated that the levator veli palatini muscle is significantly shorter (P = .037) and thinner (P = .025) in the 22q11.2DS cohort, with a significantly shorter origin-to-origin distance (P < .0005) and a greater angle of origin (P = .001) compared to healthy peers. Conclusion: Children with 22q11.2DS demonstrated multiple variations that may contribute to velopharyngeal dysfunction by altering the anatomic characteristics of the velopharyngeal port, the levator muscle, and associated structures. This investigation represents the first and largest attempt to characterize velopharyngeal anatomy in children with 22q11.2DS using a nonsedated MRI protocol.