Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: Background: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare genetic disorder characterizedby sensorineural hearing loss and the absence or hypoplasia of nails, associated withdefects in the ATP6V1B2 gene. This gene defect significantly affects hearing function, leading to congenitalsevere-to-profound hearing loss. Purpose: We present the comprehensive cochlear implant (CI) outcome of a 5-year-old child withDDOD syndrome who received bilateral sequential CIs at the ages of 1 and 4 years. Research Design: Case study. Data Collection and Analysis: Retrospective chart review of aural-communication and languageperformance. Results: After the follow-up following the first CI, there was improvement in auditory, language, andcognitive abilities. At 41 months after the first CI, the child received the second CI. Although his languageability still lagged behind, his auditory and communication performance continued to improveafter bilateral CI surgery. He obtained 95 percent on the Parents’ Evaluation of Aural/Oral Performanceof Children scale at the last follow-up. Conclusions: Children with DDOD syndrome (ATP6V1B2 c.1516C > T) receiving bilateral CIs canenhance aural and communication skills.
DOI: 10.3766/jaaa.240097
Authors: Wei-Ting Kao, Yu-Lin Cheng, Pei-Hsuan Ho, Chia-Huei Chu, Pey-Yu Chen, Hung-Ching Lin
Institution: Mackay Memorial Hospital
Language: English
Subfield: Cognitive Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4409016063