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Children With 22.Q.11.2 Deletion Syndrome: Sleep-Disordered Breathing and Management
Domenico Paolo La Regina1,2, Sonia Khirani2,3,4, Lucie Griffon2,4
1Department of Maternal Child and Urological Sciences, Paediatrics Specialization, Sapienza University of Rome, Rome, Italy.
American Journal of Medical Genetics. Part A
|April 9, 2025
Summary
Obstructive sleep apnea (OSA) is common in children with 22q11.2 deletion syndrome (22q11DS), often mild. Early intervention and surgery can improve OSA in these patients.
Area of Science:
- Pediatrics
- Genetics
- Pulmonology
Background:
- 22q11.2 deletion syndrome (22q11DS) is associated with craniofacial abnormalities predisposing to obstructive sleep apnea (OSA).
- Understanding OSA prevalence and management in this population is crucial for clinical care.
Purpose of the Study:
- To determine the prevalence and describe the management of obstructive sleep apnea (OSA) in a cohort of children with 22q11.2 deletion syndrome (22q11DS).
Main Methods:
- Retrospective analysis of clinical data and respiratory polygraphy (PG) in 52 children with 22q11DS.
- Evaluation of associated disorders, prior surgeries, and OSA management strategies.
Main Results:
- 46% of patients had OSA, predominantly mild (29%).
- Younger age, immune deficiency, and pulmonary disease were associated with OSA.
- Upper airway surgery improved OSA in 4 patients; 2 required continuous positive airway pressure (CPAP).
Conclusions:
- The prevalence of OSA in children with 22q11DS is high, with most cases being mild.
- Infants under 1 year with 22q11DS, immune deficiency, and pulmonary disease require careful OSA monitoring.
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