Cochlear Implantation Outcome in Children with DFNB1 <i>locus</i> Pathogenic Variants

• Main Authors: Dominika Oziębło, Anita Obrycka, Artur Lorens, Henryk Skarżyński, Monika Ołdak
• Format: Article
• Language: English
• Published: MDPI AG 2020-01-01
• Series: Journal of Clinical Medicine
• Subjects: dfnb1 <i>locus</i>; hearing loss; deafness; cochlear implants; cochlear outcome; genetics; auditory development
• Online Access: https://www.mdpi.com/2077-0383/9/1/228

Almost 60% of children with profound prelingual hearing loss (HL) have a genetic determinant of deafness, most frequently two DFNB1 <i>locus</i> (<i>GJB2/GJB6</i> genes) recessive pathogenic variants. Only few studies combine HL etiology with cochlear implantation (CI) outcome. Patients with profound prelingual HL who received a cochlear implant before 24 months of age and had completed DFNB1 genetic testing were enrolled in the study (n = 196). LittlEARS questionnaire scores were used to assess auditory development. Our data show that children with DFNB1-related HL (n = 149) had good outcome from the CI (6.85, 22.24, and 28 scores at 0, 5, and 9 months post-CI, respectively). A better auditory development was achieved in patients who receive cochlear implants before 12 months of age. Children without residual hearing presented a higher rate of auditory development than children with responses in hearing aids over a wide frequency range prior to CI, but both groups reached a similar level of auditory development after 9 months post-CI. Our data shed light upon the benefits of CI in the homogenous group of patients with HL due to DFNB1 <i>locus</i> pathogenic variants and clearly demonstrate that very early CI is the most effective treatment method in this group of patients.