DIAGNOSTIC APPROACHES TO CONGENITAL HEARING LOSS
DOI:
https://doi.org/10.56238/arev8n3-058Keywords:
Congenital Hearing Loss, Neonatal Hearing Screening, Congenital Cytomegalovirus, Congenital Toxoplasmosis, Genetic Screening, Early DiagnosisAbstract
Congenital hearing loss (CHL) is a significant public health problem, with an estimated prevalence of 1 to 2 cases per 1,000 live births. Early diagnosis is crucial for timely intervention, minimizing impairments in language and neurocognitive development. The etiology is multifactorial, with hereditary causes predominating (more than 50%), followed by infectious factors such as congenital cytomegalovirus (cCMV) and toxoplasmosis. Current diagnostic approaches advocate the integration of Neonatal Hearing Screening (NHS), performed through objective tests (OAE and ABR), with etiological investigation. This investigation includes molecular screening for genes such as STRC and the 16p11.2 deletion, essential for prognosis and the potential development of gene therapies. It also includes screening for infectious pathogens, such as cCMV (via salivary PCR) and toxoplasmosis (detectable by the expanded newborn screening test since 2022 in Brazil), which can cause late or progressive hearing loss. Magnetic resonance imaging (MRI) of the skull is a useful diagnostic complement in cases of cCMV. Therapeutic management is guided by etiology, encompassing the use of valganciclovir in neonates with clinically inapparent cCMV and pharmacological treatment for toxoplasmosis, in addition to intervention with hearing aids or cochlear implants. A systematized diagnostic flow, which differentiates stable from progressive hearing loss, is fundamental to ensure that individualized treatment is instituted within the "window of opportunity" of child development.
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References
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