Cochlear Implantation and Hearing Rehabilitation in CHARGE Syndrome: Expanding Clinical Knowledge and Outcomes.

OBJECTIVE

Characterize patients with CHARGE syndrome (CS) undergoing cochlear implantation (CI) and evaluate factors influencing surgical approaches and outcomes.

STUDY

DESIGN

Retrospective study.

SETTING

Quaternary pediatric referral center.

PATIENTS: Fifty-five patients with CS aged ≤21 years who underwent CI.

INTERVENTION: Demographic, audiologic, radiologic, operative, and postoperative data were reviewed. Outcomes included audiologic performance, device use, communication modality, and the presence of facial nerve stimulation (FNS).

MAIN OUTCOME MEASURES: Surgical feasibility, anatomic characteristics, and auditory outcomes.

RESULTS

Fifty-five patients underwent CI, representing 67 ears. The cohort was 62% male, and 91% had neurodevelopmental impairment. Complete electrode insertion was achieved in 81% of ears (54/67), partial insertion in 5% (3/67), and insertion data were unavailable in 15% (10/67). Perimodiolar electrodes were used in 57% of ears. Imaging demonstrated cochlear nerve aplasia or hypoplasia in 54% of implanted ears and cochlear aperture stenosis in 25%. At analysis, 49% of patients were active CI users, while 27% had discontinued use. Audiologic threshold improvement was observed in 47% of patients, and overall clinical benefit was identified in 64% based on combined audiologic and functional measures. Ipsilateral facial nerve stimulation occurred in 15% of implanted ears; among these, 60% remained active users, while 40% discontinued CI use due to FNS unresponsive to reprogramming.

CONCLUSION

CI is feasible and can provide meaningful benefit in patients with CS despite complex anatomic and neurodevelopmental challenges. These findings support an individualized approach to CI candidacy and offer practical guidance for surgical planning and family counseling regarding expected outcomes.