Abstract
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.
Highlights
Profound prelingual hearing loss (HL, deafness) occurs before the development of speech and language and represents one of the major congenital defects, which affects as many as 1–6/1000 newborns [1]
In children with profound prelingual HL, auditory stimuli can be delivered by a cochlear implant, which compensates for the malfunctioning of the inner ear, directly stimulates the auditory pathway, and enables the processed sound to reach the central nervous system
We present the first thorough analysis of auditory development in the largest, so far reported, group of cochlear implant recipients with pathogenic variants in the DFNB1 locus
Summary
Profound prelingual hearing loss (HL, deafness) occurs before the development of speech and language and represents one of the major congenital defects, which affects as many as 1–6/1000 newborns [1]. Audiological intervention facilities the development of hearing and speech in children with profound prelingual HL [3]. Cochlear implants offer their users undeniable benefits that have been documented in many studies [2,4,5,6]. The excellent outcome of cochlear implantation (CI) does not guarantee that every implanted child will fully benefit in terms of speech understanding and language development. The development of auditory competence of cochlear implant users is influenced by many factors, including the etiology of HL, the level of residual hearing preservation, the coexistence of other medical problems, as well as the length of auditory deprivation and the intensity of speech and hearing rehabilitation [8]
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