Otologic and audiologic findings in 22q11.2 deletion syndrome

Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5-4 kHz). Median age at time of most recent audiogram was 7 years (range 3-29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age.