The aim of this study was the investigation of the epidemiology of permanent hearing impairment in the children of first year of life in the Russian Federation after the implementation of the newborn universal hearing screening program. The prevalence of hearing loss in children in the first year of life was estimated at 2.5 per 1,000 based on the official statistical data and reports of hearing rehabilitation centres in 2016. A cohort of 405 children born in 2012 was examined at the age from 0 to 4 years of life. Among them 276 children were diagnosed with permanent congenital and prelingual hearing loss. 88% of the cases were bilateral, sensorineural hearing loss confirmed in 84% of the cases. The genetic cause of hearing loss was revealed in 58% of the patients assessed for the presence of GJB2 gene mutations. In preterm infants, the permanent hearing loss was detected in 70% of the cases. The comprehensive audiological assessment before 3 months of life was conducted only in 32% of the children; this finding is not consistent with the international newborn hearing screening recommendations. Only 70% of the cases of congenital and preverbal hearing loss were diagnosed during the first year of life.

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Congenital and early onset bilateral sensorineural hearing loss (SNHL) is mainly caused by mutations in numerous genes. The introduction of universal newborn hearing screening (UNHS) has increased the number of infants with mild, moderate, and moderate-to-severe sensorineural hearing loss (SNHL) detected in the first year of life. We aimed to evaluate the audiological features in patients with mild, moderate, and moderate-to-severe SNHL according to genotype. Audiological and genetic data were analyzed for 251 patients and their relatives with congenital bilateral mild, moderate, and moderate-to-severe SNHL. Hearing loss severity, audiogram profile, interaural symmetry, and dynamics of hearing thresholds were analyzed. In this case, 165 patients had GJB2 gene mutations, 30 patients were identified with STRC mutations, and 16 patients had pathogenic or likely pathogenic USH2A mutations. The presence of at least one GJB2 non-truncating variant in genotype led to less severe hearing impairment. The flat and gently sloping audiogram profiles were mostly revealed in all groups. The follow-up revealed the stability of hearing thresholds. GJB2, STRC, and USH2A pathogenic variants were detected in most patients in our cohort and were congenital in most cases.