Outcomes of cochlear implantation in children with CHARGE syndrome

Conclusion: Regardless of the extent of inner ear anomalies and intellectual faculties, cochlear implantation (CI) with careful treatment planning can be a highly effective option for hearing rehabilitation in children with sensorineural hearing loss and CHARGE syndrome. Objective: CHARGE is a mnemonic term for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is one of the leading causes of congenital deafness and blindness in children. We evaluated the language performance of six pediatric patients with CHARGE syndrome. Methods: Six patients with CHARGE syndrome underwent CI at the Asan Medical Center in Seoul between 2002 and 2012. The mean age of these CI patients was 4.9 years (range 2-9.8 years). All six patients had inner ear malformations; five children had an auricle anomaly and otitis media with effusion; three of these cases showed ossicle anomalies and four patients had downward displacement of the facial nerve (FN) toward the promontory; five patients showed delayed development; four of these children had cardiovascular malformations; three patients had cryptorchidism; two had choanal atresia; and there was one case of coloboma. Results: In the initial operations, two patients each were implanted with a CI512, CI24R, or CI24RE device. One patient initially received a CI512 device in the right ear, followed by a CI24RE device in the left ear. Another patient (case 1) first received a CI24R and then CI24RST device in the right ear due to poor performance, but this was eventually removed due to exposure of the electrode from adhesive otitis media and continuing poor performance. Assessment of the meaningful auditory integration scale (MAIS) showed that four patients reached a score above 95% and one patient achieved 60%. The categories of auditory performance (CAP) score showed that one patient reached CAP 7 at 2 years postoperatively and two cases showed CAP 5.5 at 1 year after implantation, while the remaining two patients had CAP scores of 3 at 12 months and 4.5 at 4 years, respectively. The speech intelligibility rating (SIR) score at 18 months post-surgery was 4.5 in two patients, 2.5 in two patients, and 1.5 in one case. The remaining patient (case 1) who was explanted showed no meaningful speech improvement.