Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation

Abstract The clinical features of neurocristopathy-related hearing loss, and the correlation between these features and patient improvements after cochlear implantation (CI) are unknown. This study enrolled 16 children with sensorineural hearing loss due to four types of neurocristopathies, Waardenburg syndrome (WS), Noonan syndrome (NS), Kabuki syndrome (KS), and CHARGE syndrome (CS), who underwent CI. Neurodevelopmental assessment was conducted using the Gesell Developmental Schedules, ear development was evaluated using temporal bone computed tomography, and the post-CI auditory nerve response was assessed via neural response telemetry. Auditory performance was evaluated using the categories of the auditory performance scale. Genetic features were examined using whole-exome sequencing. WS/NS Groups achieved excellent auditory-speech outcomes (CAP_3 year/SIR_3 year: WS 7.3/4.0 n = 3, NS 8.0/4.0 n = 1), using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR), with minimal impact from SOX10 (WS) or PTPN11 (NS) mutations on neurodevelopment. CS Group showed poor recovery (CAP_3 year/SIR_3 year: 3.3/1.8 n = 3) due to CHD7-related cochlear nerve dysplasia and central auditory deficits, Gesell_mean showed a significant positive correlation with CAP_1 year (ρ = 0.83 n = 6 p = 0.042), CAP_3 year was significantly correlated with both implantation CI_age_mon and Gesell_mean independently (ρ = 1.0, n = 3, p < 0.001). Non-CS Groups(WS/NS/KS)showed older CI_age_mon predicted higher 1-year SIR (ρ = 0.77 n = 10 p = 0.009), while structural abnormalities (abnormal_sum) trended toward worse 3-year SIR (ρ=-0.79 n = 5). The integration of genetic, ear structure, and neurodevelopmental assessments can assist in clinical decision making for CI.