Medfødt hørenedsættelse hos børn

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

doi:10.61409/V03250237

Medfødt hørenedsættelse hos børn

Translated title of the contribution: Congenital hearing loss in children

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

^*Corresponding author for this work

Department of Otorhinolaryngology, Head and Neck Surgery and Audiology

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.

Translated title of the contribution	Congenital hearing loss in children
Original language	Danish
Article number	V03250237
Journal	Ugeskrift for Laeger
Volume	187
Issue number	42
Pages (from-to)	1-9
Number of pages	9
ISSN	0041-5782
DOIs	https://doi.org/10.61409/V03250237
Publication status	Published - 13 Oct 2025

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10.61409/V03250237Licence: CC BY-NC-ND

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title = "Medf{\o}dt h{\o}reneds{\ae}ttelse hos b{\o}rn",

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.",

keywords = "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",

author = "Kristianna Mey and T{\o}rring, \{Pernille Mathiesen\} and Bjarke Edholm and Emilija Meskiene and Schmidt, \{Jesper Hvass\}",

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

year = "2025",

month = oct,

day = "13",

doi = "10.61409/V03250237",

language = "Dansk",

volume = "187",

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T1 - Medfødt hørenedsættelse hos børn

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/.

PY - 2025/10/13

Y1 - 2025/10/13

N2 - 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.

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.

KW - Humans

KW - Infant, Newborn

KW - Hearing Loss, Sensorineural/congenital

KW - Child

KW - Neonatal Screening

KW - Hearing Loss/congenital

KW - Connexin 26

KW - Membrane Proteins/genetics

KW - Connexins/genetics

KW - Evoked Potentials, Auditory, Brain Stem

KW - Otoacoustic Emissions, Spontaneous

KW - Goiter, Nodular

UR - https://www.scopus.com/pages/publications/105019728960

U2 - 10.61409/V03250237

DO - 10.61409/V03250237

M3 - Review

C2 - 41126706

SN - 0041-5782

VL - 187

SP - 1

EP - 9

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 42

M1 - V03250237

ER -

Medfødt hørenedsættelse hos børn

Abstract

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