Congenital hearing loss

Abstract

Congenital hearing loss (hearing loss present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing-screening programmes enable early detection; early intervention will prevent delays in speech and language development and have long-lasting beneficial effects on social and emotional development and quality of life. A hearing loss diagnosis is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision-making and guide prevention and (genetic) counseling. Management options include specific antimicrobial therapies, surgical treatment of cranio-facial abnormalities and hearing aids. An improved understanding of the pathophysiology and molecular mechanisms underlying hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

A Gata3 3′ Distal Otic Vesicle Enhancer Directs Inner Ear-Specific Gata3 Expression

“…Further investigation of the regulatory mechanism of Gata3 gene expression in the inner ear should provide additional insight into the developmental basis for inner ear specification and elaboration. Finally, a complete explanation of these underlying regulatory mechanisms may lead to possible therapeutic avenues for intervening in inherited sensorineural deafness, which constitutes a major cause of hearing loss in children (36).…”

Genomic architecture of Shh dependent cochlear morphogenesis

“…Over the course of several days during embryonic development, this outgrowth undergoes a complex sequence of morphogenetic changes resulting in cochlear lengthening, coiling and differential patterning into sensory and nonsensory cell types that are essential for hearing (Wu and Kelley 2012; Basch et al, 2016; Montcouquiol and Kelley, 2019). Congenital malformations of the cochlea or defects in many of its constituent cell types are primary causes of hearing loss, emphasizing the importance of a thorough understanding of cochlear development (Jackler et al, 1987; Dror and Avraham, 2010; Schwander et al, 2010; Korver et al, 2017).…”

Celastrol enhances Atoh1 expression in inner ear stem cells and promotes their differentiation into functional auditory neuronal-like cells

“…The etiology of hearing loss intimately associates with loss and decreased regenerative capacity of mechanosensory hair cells within the sensory epithelium of the cochlea. 1 Currently, hearing aids are the most effective treatment for most patients suffering from moderate to severe hearing loss, but its use is very limited in the applicable patient population. 2 For those patients diagnosed with profound sensorineural hearing loss, cochlear implant is the sole available therapeutic option with favorable prognosis.…”