A Practical Approach to Genetic Testing for Pediatric Hearing Loss

We present the most recent research in the field followed by our recommended diagnostic algorithm incorporating genetic testing. We then provide case examples of commonly encountered patient presentations as further guidance.Recent FindingsGenetic testing has the highest diagnostic yield of any single test in the evaluation of children with congenital bilateral severe-to-profound hearing loss. For unilateral or asymmetric hearing loss, imaging is typically more informative initially than genetic testing. Recent data show that syndromic forms of hearing loss are more common than previously appreciated.SummaryA thorough and systematic evaluation of children with hearing loss that incorporates genetic testing leads to earlier diagnosis and treatment. This in turn leads to improved speech and language outcomes for children with hearing loss.
Source: Current Otorhinolaryngology Reports - Category: ENT & OMF Source Type: research