Congenital deafness: from screening to management.

Abstract

Congenital deafness represents a major global health challenge, impacting both communication skills and social integration. The results of epidemiological observations show variable prevalence rates, influenced by genetic and environmental factors. The pathophysiological processes involve abnormalities of the auditory system resulting from genetic mutations, prenatal infections, and exposure to ototoxic substances. Diagnostic approaches are multidisciplinary, combining audiological, genetic, and imaging assessments. Management options include the use of hearing aids, cochlear implants, therapies, and educational assistance, with a strong focus on the importance of early intervention. The implementation of universal newborn hearing screening programs plays a crucial role in early detection, although there are disparities. Future research efforts should focus on understanding genetic and environmental contributions, as well as developing innovative screening and intervention strategies. Collaboration between healthcare professionals, researchers, policymakers, and educators is essential to ensure equal and adequate care and support for people with congenital deafness. This comprehensive review synthesizes the current state of the art on congenital deafness, covering topics such as epidemiology, pathophysiology, etiology, diagnostic methods, management strategies, screening procedures, and future directions.