title: 22q11.2 Deletion syndrome and obstructive sleep apnea.
abstract: Otolaryngologic problems are common in the 22q11.2 deletion syndrome (DS) population. Structural anomalies and retrognathia may predispose these patients to obstructive sleep apnea (OSA). The current association of OSA in this population is not defined.
  
  
  OBJECTIVE
  (1) Define the frequency of OSA in 22q11.2 DS patients referred for polysomnography (PSG). (2) Determine if OSA is present before and/or after surgery to correct velopharyngeal insufficiency (VPI). (3) Determine effect of prior adenotonsillectomy on OSA 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 OSA on PSG, accounting for 10.2% of our study population; however, the percentage of patients with OSA 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 OSA (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 OSA (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 OSA (median AHI 3/h, range 1.9-15). Patients who underwent adenotonsillectomy prior to VPI surgery had similar prevalence of OSA (50%, n=12) than those who did not (OSA: 60%, n=5, p=0.70). Most children had mild OSA.
  
  
  CONCLUSIONS
  Prevalence of OSA in this population of 22q11.2 DS patients is higher than expected in the general population. OSA risk is highest after VPI surgery, and may be decreased by adenotonsillectomy. Providers should have awareness of increased prevalence of OSA in patients with 22q11.2 DS. Close monitoring for OSA is warranted given the likelihood of subsequent surgical intervention that can worsen OSA.
authors: Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: kennedyw@email.chop.edu.
authors: William P
authors: WP
authors: Kennedy
authors: Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Pamela A
authors: PA
authors: Mudd
authors: Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Meg A
authors: MA
authors: Maguire
authors: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Margaret C
authors: MC
authors: Souders
authors: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Donna M
authors: DM
authors: McDonald-McGinn
authors: Division of Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Carole L
authors: CL
authors: Marcus
authors: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Elaine H
authors: EH
authors: Zackai
authors: Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Cynthia B
authors: CB
authors: Solot
authors: Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA,United States.
authors: Thornton B Alexander
authors: TB
authors: Mason
authors: Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Oksana A
authors: OA
authors: Jackson
authors: Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
authors: Lisa M
authors: LM
authors: Elden
mesh_terms: D000233:Adenoidectomy; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000150:complications* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017286:Polysomnography; D012189:Retrospective Studies; D012720:Severity of Illness Index; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis*; D014068:Tonsillectomy; D014681:Velopharyngeal Insufficiency / Q000601:surgery
keywords: 22q11.2 Deletion syndrome; DiGeorge syndrome; Obstructive sleep apnea; Velocardiofacial syndrome; Velopharyngeal insufficiency