Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome

Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. Study Design: Retrospective analysis of the AudGen Database. Setting: Tertiary academic referral center. Patients: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome. Interventions: Appropriate audiologic, otologic, and demographic data were recorded. Main Outcome Measure: Four hundred six patients met inclusion criteria. Data for each patient were selected based on their encounters with earliest complete audiometric data, and hearing loss (HL) was defined as greater than 15 dB HL at any threshold by pure tone or greater than 20 dB HL by soundfield audiometry. The patients were then stratified by type and severity of HL, and available otologic and medical conditions were documented. Results: Two hundred forty eight (60.7%) patients had HL. Of the 391 individual HL ears, 127 had conductive, 22 had sensorineural, 115 had mixed, and 127 had unspecified hearing loss. 57% of the loss was bilateral. Patients with mixed HL had significantly worse pure-tone averages (PTAs). Conclusion: HL is prevalent in patients with VCFS. The hearing loss is primarily of conductive origin, with a predisposition to be bilateral, with mixed HL typically have more severe loss. There were a large number of patients with sensorineural hearing loss components as well. Further studies are needed to investigate the causal nature of the hearing impairment in VCFS, to better aid otolaryngologist and audiologists when assessing these patients.