Medfødt hørenedsættelse hos børn

Kristianna Mey; Pernille Mathiesen Tørring; Bjarke Edholm; Emilija Meskiene; Jesper Hvass Schmidt

doi:10.61409/V03250237

Medfødt hørenedsættelse hos børn

Kristianna Mey, Pernille Mathiesen Tørring, Bjarke Edholm, Emilija Meskiene, Jesper Hvass Schmidt^*

^*Corresponding author af dette arbejde

Afdeling for Øre-, Næse-, Halskirurgi og Audiologi HOC

Abstract

The identification of congenital hearing loss using Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response in a newborn hearing screening program is crucial for initiating early rehabilitation with hearing aids or cochlear implants. Specific genetic causes, such as Pendred syndrome, connexin-26, stereocilin, and otoferlin-associated deafness, can be identified today using gene panels. Specifically, for otoferlin-associated deafness, it may be possible to offer gene therapy as a novel treatment for this specific genetic type of hearing loss.

Bidragets oversatte titel	Congenital hearing loss in children
Originalsprog	Dansk
Artikelnummer	V03250237
Tidsskrift	Ugeskrift for Laeger
Vol/bind	187
Udgave nummer	42
Sider (fra-til)	1-9
Antal sider	9
ISSN	0041-5782
DOI	https://doi.org/10.61409/V03250237
Status	Udgivet - 13 okt. 2025

Emneord

Humans
Infant, Newborn
Hearing Loss, Sensorineural/congenital
Child
Neonatal Screening
Hearing Loss/congenital
Connexin 26
Membrane Proteins/genetics
Connexins/genetics
Evoked Potentials, Auditory, Brain Stem
Otoacoustic Emissions, Spontaneous
Goiter, Nodular

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10.61409/V03250237Licens: CC BY-NC-ND

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AU - Mey, Kristianna

AU - Tørring, Pernille Mathiesen

AU - Edholm, Bjarke

AU - Meskiene, Emilija

AU - Schmidt, Jesper Hvass

N1 - Published under Open Access CC-BY-NC-BD 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/.

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AB - The identification of congenital hearing loss using Transient Evoked Otoacoustic Emissions and Automatic Auditory Brainstem Response in a newborn hearing screening program is crucial for initiating early rehabilitation with hearing aids or cochlear implants. Specific genetic causes, such as Pendred syndrome, connexin-26, stereocilin, and otoferlin-associated deafness, can be identified today using gene panels. Specifically, for otoferlin-associated deafness, it may be possible to offer gene therapy as a novel treatment for this specific genetic type of hearing loss.

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KW - Child

KW - Neonatal Screening

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KW - Membrane Proteins/genetics

KW - Connexins/genetics

KW - Evoked Potentials, Auditory, Brain Stem

KW - Otoacoustic Emissions, Spontaneous

KW - Goiter, Nodular

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DO - 10.61409/V03250237

M3 - Review

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SP - 1

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JO - Ugeskrift for Laeger

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ER -

Medfødt hørenedsættelse hos børn

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