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22q11.2 Deletion syndrome and obstructive sleep apnea
William P Kennedy1, Pamela A Mudd1, Meg A Maguire2
1Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
International Journal of Pediatric Otorhinolaryngology
|June 25, 2014
Summary
Obstructive sleep apnea (OSA) is more common in 22q11.2 deletion syndrome (DS) patients than previously thought. OSA risk increases after surgery for velopharyngeal insufficiency (VPI), but adenotonsillectomy may reduce this risk.
Area of Science:
- Genetics and rare diseases
- Pediatric otolaryngology
- Sleep medicine
Background:
- 22q11.2 deletion syndrome (DS) is associated with otolaryngologic issues, including structural anomalies and retrognathia.
- These anomalies may predispose individuals to obstructive sleep apnea (OSA), but the prevalence is not well-defined.
Purpose of the Study:
- To determine the frequency of OSA in 22q11.2 DS patients undergoing polysomnography (PSG).
- To assess OSA presence before and after velopharyngeal insufficiency (VPI) surgery.
- To evaluate the impact of prior adenotonsillectomy on OSA following VPI surgery.
Main Methods:
- Retrospective review of pediatric patients diagnosed with 22q11.2 DS (ICD-9 codes 758.32, 279.11) from 2006-2013.
- Analysis of surgical history and polysomnography (PSG) data.
Main Results:
- Of 323 patients, 57 underwent PSG, with 33 (10.2% of total, 58% of screened) diagnosed with OSA.
- OSA was prevalent both before VPI surgery (54%) and after VPI surgery (53%).
- Prior adenotonsillectomy did not significantly alter OSA prevalence post-VPI surgery.
Conclusions:
- OSA is more common in 22q11.2 DS patients than in the general population.
- OSA risk is elevated post-VPI surgery, and adenotonsillectomy may offer some protection.
- Increased awareness and monitoring for OSA are crucial in 22q11.2 DS patients, especially those undergoing surgical interventions.
Keywords:
22q11.2 Deletion syndromeDiGeorge syndromeObstructive sleep apneaVelocardiofacial syndromeVelopharyngeal insufficiencyMore Related Videos
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