22q11.2 Deletion syndrome and obstructive sleep apnea

Otolaryngologic problems are common in the 22q11.2 deletion syndrome (DS) population. Structural anomalies and retrognathia may predispose these patients to obstructive sleep apnea (USA). The current association of USA in this population is not defined. Objective: (1) Define the frequency of USA in 22q11.2 DS patients referred for polysomnography (PSG). (2) Determine if USA is present before and/or after surgery to correct velopharyngeal insufficiency (VPI). (3) Determine effect of prior adenotonsillectomy on USA following VPI surgery. Methods: Retrospective review of children treated from 2006 to 2013 in a tertiary care setting identified by ICD-9 758.32 (velocardiofacial syndrome) and 279.11 (DiGeorge syndrome). Surgical history and PSG data were abstracted from the identified records. Results: We identified 323 patients with 22q11.2 DS; 57(18%) were screened at any point in care using PSG and 15 patients had PSG at multiple time points in care. In most cases, indication for PSG was sleep disordered breathing or pre-operative planning. Overall, 33 patients met criteria for USA on PSG, accounting for 10.2% of our study population; however, the percentage of patients with USA was significantly higher within the group of 57 patients (58%) who were screened with PSG. Twenty-one of the screened patients (54%) had PSG prior to any pharyngeal surgery and had mild to severe USA (obstructive apnea/hypopnea index (AHI): median 5.1/h, range 1.9-25.6). Eighteen patients had PSG after adenotonsillectomy; 8 of these patients (44%) had mild to moderate USA (median AHI 2.95/h, range 1.9-5.4). Seventeen patients had PSG after VPI surgery (palatopharyngeal flap (PPF) n = 16, sphincteroplasty n = 1). Nine of these patients (53%) had mild to severe USA (median AHI 3/h, range 1.9-15). Patients who underwent adenotonsillectomy prior to VPI surgery had similar prevalence of USA (50%, n = 12) than those who did not (USA: 60%, n = 5, p = 0.70). Most children had mild USA. Conclusion: Prevalence of USA in this population of 22q11.2 DS patients is higher than expected in the general population. USA risk is highest after VPI surgery, and may be decreased by adenotonsillectomy. Providers should have awareness of increased prevalence of USA in patients with 22q11.2 DS. Close monitoring for USA is warranted given the likelihood of subsequent surgical intervention that can worsen USA. (C) 2014 Elsevier Ireland Ltd. All rights reserved.