[Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland].

Autor: Fries S; Service d'ORL et de chirurgie cervico-faciale, Centre hospitalier universitaire vaudois, 1011 Lausanne., Unger S; Service de médecine génétique, Centre hospitalier universitaire vaudois, 1011 Lausanne., Cina V; Service de médecine génétique, Centre hospitalier universitaire vaudois, 1011 Lausanne., Strom A; Service de médecine génétique, Centre hospitalier universitaire vaudois, 1011 Lausanne., Paoloni-Giacobino A; Service de médecine génétique, Hôpitaux universitaires de Genève, 1211 Genève 14., Simon C; Service d'ORL et de chirurgie cervico-faciale, Centre hospitalier universitaire vaudois, 1011 Lausanne., Senn P; Service d'ORL et de chirurgie cervico-faciale, Hôpitaux universitaires de Genève, 1211 Genève 14., Cao Van H; Service d'ORL et de chirurgie cervico-faciale, Hôpitaux universitaires de Genève, 1211 Genève 14.
Jazyk: francouzština
Zdroj: Revue medicale suisse [Rev Med Suisse] 2022 Oct 05; Vol. 18 (798), pp. 1855-1859.
DOI: 10.53738/REVMED.2022.18.798.1855
Abstrakt: 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.
Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.
Databáze: MEDLINE
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