# Aerodynamic Study of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome

**Authors:** Salvatore Allosso, Massimo Mesolella, Giovanni Motta, Giuseppe Quaremba, Rosaria Parrella, Martina Ricciardiello, Sergio Motta

PMC · DOI: 10.3390/jpm14060620 · Journal of Personalized Medicine · 2024-06-10

## TL;DR

This study examines how air flows in people with 22q11.2 deletion syndrome to understand speech issues related to velopharyngeal insufficiency.

## Contribution

The study introduces aerodynamic measures to differentiate typical and atypical velopharyngeal behavior in 22q11.2 deletion syndrome patients.

## Key findings

- Airflow patterns and perceptual measures differed significantly between 22q11.2DS patients and controls.
- Lower pressure wave duration and air pressure peak were observed in 22q11.2DS patients.
- Aerodynamic measures like air pressure peak and nasal airflow were negatively correlated with speech-related nasality measures.

## Abstract

Objectives: We aim to verify velopharyngeal sphincter function in 22q11.2 deletion syndrome patients (22q11.2DS) to establish correlations between aerodynamic and perceptual measures of nasality, and to identify aerodynamic measures differentiating typical from atypical velopharyngeal behavior. Methods: Eleven subjects with 22q11.2DS and twenty similar-age control subjects were recruited. The aerodynamic measures were mean Sound Pressure Level, air pressure peak, pressure wave duration, airflow pattern and nasal airflow during the sequence /pi/. The nasality perceptual measures were rhinolalia, rhinophony and nasal air escape. Results: Airflow patterns and perceptual measures were statistically different in the two groups. Pressure wave duration and air pressure peak were lower in study subjects than in controls. Air pressure peak and nasal airflow were negatively correlated with rhinolalia; pressure wave duration was negatively correlated with nasal air escape and rhinolalia in 22q11.2DS patients. Conclusions: This aerodynamic study identified velopharyngeal qualitative and quantitative dysfunctions, suggesting heterogeneous models of velopharyngeal function in syndromic subjects as compared to controls.

## Linked entities

- **Diseases:** 22q11.2 deletion syndrome (MONDO:0008564)

## Full-text entities

- **Diseases:** rhinolalia (MESH:D013064), 22q11.2 Deletion Syndrome (MESH:D004062), Velopharyngeal Insufficiency (MESH:D014681)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

28 references — full list in the complete paper: https://tomesphere.com/paper/PMC11205117/full.md

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Source: https://tomesphere.com/paper/PMC11205117