Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome.

OBJECTIVE: To identify inner and middle ear anomalies in children with 22q11.2 deletion syndrome (22q11DS) and determine associations with hearing thresholds. STUDY DESIGN: Retrospective study. SETTING: Two tertiary care academic centers. METHODS: Children presenting with 22q11DS between 2010 and 2020 were included. Temporal bone imaging with computed tomography or magnetic resonance imaging was reviewed by 2 neuroradiologists. RESULTS: Twenty-two patients (12 female, 10 male) were identified. Forty-four ears were evaluated on imaging. There were 15 (34%) ears with abnormal semicircular canals, 14 (32%) with abnormal vestibules, 8 (18%) with abnormal ossicles, 6 (14%) with enlarged vestibular aqueducts, 4 (9.1%) with abnormal facial nerve canals, and 4 (9.1%) with cochlear anomalies. There were 25 ears with imaging and audiometric data. The median pure tone average (PTA) for ears with any structural abnormality was 41.0 dB, as compared with 28.5 dB for ears without any structural abnormality (P = .21). Of 23 ears with normal imaging, 6 (26%) had hearing loss in comparison with 13 (62%) of 21 ears with abnormalities (P = .02). Total number of anomalies per ear was positively correlated with PTA (Pearson correlation coefficient, R = 0.479, P = .01). PTA was significantly higher in patients with facial nerve canal anomalies (P = .002), vestibular aqueduct anomalies (P = .05), and vestibule anomalies (P = .02). CONCLUSIONS: Semicircular canal, ossicular, vestibular aqueduct, and vestibular anomalies were detected in children with 22q11DS, especially in the setting of hearing loss. Careful evaluation of anatomic anomalies is needed prior to surgical intervention in these patients.