Genetic characteristics in children with cochlear implants and the corresponding auditory performance

Area of Science:

• Genetics
• Otolaryngology
• Pediatrics

Background:

• Sensorineural hearing impairment (SNHI) in children often has a genetic basis.
• Cochlear implants (CIs) are a common treatment for severe to profound SNHI.
• Understanding the genetic landscape of CI recipients is crucial for predicting outcomes.

Purpose of the Study:

• To investigate the genetic profiles of children receiving cochlear implants (CIs).
• To compare genetic mutation frequencies between children with and without CIs.
• To correlate genetic diagnoses with long-term auditory performance in pediatric CI users.

Main Methods:

• A prospective cohort study screened 743 children with idiopathic SNHI for mutations in GJB2, SLC26A4, mitochondrial 12S rRNA, and OTOF genes.
• Compared allele frequencies and audiological features between 180 CI recipients and 563 non-recipients.
• Analyzed Categories of Auditory Performance (CAP) scores at 3 years post-implantation based on genotype.

Main Results:

• A genetic diagnosis was established in 20.6% of CI recipients.
• GJB2 mutations showed significantly different allele frequencies between CI and non-CI groups (P < .01).
• Children with genetic mutations demonstrated superior CAP scores at 3 years compared to those without.

Conclusions:

• A significant prevalence of genetic mutations exists in children with CIs, underscoring the need for genetic screening.
• Distinct frequencies of common deafness-associated mutations are observed between pediatric CI users and non-users.
• Identifying genetic mutations in CI candidates is associated with excellent long-term auditory rehabilitation outcomes.