Study of Hearing Loss in Children Up to 16 Years Caused by GJB2 or OTOF Gene Mutations Tracking Hearing and Quality of Life Changes Over Time

What this Trial Is About

This research aims to follow the natural course of non-syndromic hearing loss caused by mutations in the GJB2 or OTOF genes in children up to 16 years old. It focuses on better understanding the prevalence, types of mutations, and clinical progression of DFNB1A and DFNB9 forms of deafness, as well as their audiological and genetic features in children with mild to profound hearing loss. Participants are grouped based on their use of cochlear implants those without implants, those who receive unilateral or bilateral implants during the study, and those who already have implants at the start. The study collects routine Pure Tone Audiometry data and Quality of Life questionnaire responses throughout the study period. Children enrolled will undergo audiological evaluations including pure tone audiometry, auditory brainstem response ABR, and otoacoustic emissions OAE over up to 4 years. Genetic and phenotypic characteristics will be assessed at enrollment. Hearing-related quality of life will also be monitored. The study continues monitoring participants for up to 4 years to track hearing and electrophysiological characteristics and quality of life.

Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes