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Open AccessArticle

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

1
Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland
2
Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland
3
Department of Implants and Auditory Perception, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland
4
Oto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(1), 228; https://doi.org/10.3390/jcm9010228
Received: 23 December 2019 / Revised: 10 January 2020 / Accepted: 13 January 2020 / Published: 15 January 2020
(This article belongs to the Special Issue Therapies for Hearing Loss)
Almost 60% of children with profound prelingual hearing loss (HL) have a genetic determinant of deafness, most frequently two DFNB1 locus (GJB2/GJB6 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 locus pathogenic variants and clearly demonstrate that very early CI is the most effective treatment method in this group of patients. View Full-Text
Keywords: DFNB1 locus; hearing loss; deafness; cochlear implants; cochlear outcome; genetics; auditory development DFNB1 locus; hearing loss; deafness; cochlear implants; cochlear outcome; genetics; auditory development
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Oziębło, D.; Obrycka, A.; Lorens, A.; Skarżyński, H.; Ołdak, M. Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants. J. Clin. Med. 2020, 9, 228.

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