[Congenital hearing loss in children]

Area of Science:

• Genetics
• Audiology
• Otolaryngology

Background:

• Congenital hearing loss requires early intervention for optimal outcomes.
• Newborn hearing screening programs utilize Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response.
• Genetic factors play a significant role in congenital deafness.

Purpose of the Study:

• To highlight the importance of early identification of congenital hearing loss.
• To discuss the role of genetic testing in diagnosing specific causes of deafness.
• To explore novel therapeutic approaches like gene therapy for genetic hearing loss.

Main Methods:

• Utilizing Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response for newborn hearing screening.
• Employing gene panels for the identification of genetic mutations.
• Reviewing current and emerging treatment strategies for congenital hearing loss.

Main Results:

• Early detection through screening enables timely rehabilitation with hearing aids or cochlear implants.
• Gene panels can identify specific genetic causes, including Pendred syndrome, connexin-26, stereocilin, and otoferlin-associated deafness.
• Otoferlin-associated deafness shows promise for future gene therapy interventions.

Conclusions:

• Early identification and genetic diagnosis are critical for personalized treatment of congenital hearing loss.
• Gene therapy represents a novel and promising treatment avenue for specific genetic forms of deafness.
• Advancements in genetic testing and therapeutic strategies are transforming the management of congenital hearing loss.