Cochlear Implantation in a Child with Cornelia de Lange Syndrome: Challenges and Prospect

Cornelia de Lange syndrome (CdLS) is a rare congenital multisystem syndrome characterized by a distinctive craniofacial appearance, developmental delay, intellectual disability, limb abnormalities, and hypertrichosis. Hearing loss is one of the common manifestations in CdLS. This study presents a 6-year-old child with CdLS, who exhibited developmental delay, intellectual disability, and displayed autistic features, and experienced challenges during right cochlear implant (CI) surgery at the age of 5 due to inner ear abnormality. After the CI, the sound field hearing test showed minimal response levels of 60-70 dB HL at post-CI 12 months. He obtained scores of 2%, 14%, 16%, and 27% on the PEACH rating scale at pre-CI, post-CI 3 months, post-CI 6 months, and post-CI 12 months, respectively. Nevertheless, for CdLS patients with severe-to-profound hearing loss, CI can offer potential improvements in auditory skills and social connections, even though the benefits may be limited. It remains a viable solution.