Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande [Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland]
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5 octobre 2022
- doi: 10.53738/REVMED.2022.18.798.1855
- issn: 1660-9379
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S. Fries et al., « Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande [Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland] », Serveur académique Lausannois, ID : 10.53738/REVMED.2022.18.798.1855
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Hearing loss is the most frequent sensory deficit at birth. Newborn hearing screening helps with early identification and clinical management of hearing deficits. A cochlear implantation is advised for profound hearing loss. Previously, an etiologic diagnosis was difficult to obtain, and many laboratory tests were required. Today, genetics has up to 60% success rate in etiologic diagnosis and is now part of the international pediatric ENT recommendations. The Centre Universitaire Romand des Implants Cochléaires (CURIC) follows children with cochlear implants. From 2015 to 2021, 26 implanted children received testing, with a 73% success rate. The genetic diagnosis helped guide their clinical management and helped to avoid unnecessary and costly clinical testing.