ArticleJournal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale2020
Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study.
Article in Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.The Laryngoscope · 2024Pooled it
- Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study.Brain sciences · 2025Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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. STUDY
designRetrospective case-control study.
settingPediatric tertiary care center. SUBJECTS AND
methodsA 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.
resultsLateral 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.
conclusionsVelopharyngeal 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.
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