The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved..
OBJECTIVES: Sensorineural hearing loss (SNHL) occurs commonly as part of mitochondriopathies and varies in severity and onset. In this study, we characterized hearing with specific consideration for hearing loss as a potential early indicator of mitochondrial disease (MD). We hypothesize that genetic testing at the earliest detection of SNHL may lead to an earlier MD diagnosis.
DESIGN: We reviewed the clinical and audiometric data of 49 patients undergoing genetic testing for MD.
RESULTS: One-third of individuals with molecularly confirmed MD presented with SNHL. On average, patients had hearing loss at least 10 years before genetic testing. The collective audiometric profile includes mild to moderate SNHL at lower frequencies and moderate SNHL at 2 kHz and higher frequencies.
CONCLUSIONS: This study suggests that screening for SNHL could be an early indicator of MD. We propose that the audiometric profile for those with a MD diagnosis may have clinical triage utility.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:45 |
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| Enthalten in: |
Ear and hearing - 45(2024), 2 vom: 21. Feb., Seite 517-521 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Koleilat, Alaa [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 20.02.2024 Date Revised 20.02.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1097/AUD.0000000000001442 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 245 | 1 | 4 | |a The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss |
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| 520 | |a Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved. | ||
| 520 | |a OBJECTIVES: Sensorineural hearing loss (SNHL) occurs commonly as part of mitochondriopathies and varies in severity and onset. In this study, we characterized hearing with specific consideration for hearing loss as a potential early indicator of mitochondrial disease (MD). We hypothesize that genetic testing at the earliest detection of SNHL may lead to an earlier MD diagnosis | ||
| 520 | |a DESIGN: We reviewed the clinical and audiometric data of 49 patients undergoing genetic testing for MD | ||
| 520 | |a RESULTS: One-third of individuals with molecularly confirmed MD presented with SNHL. On average, patients had hearing loss at least 10 years before genetic testing. The collective audiometric profile includes mild to moderate SNHL at lower frequencies and moderate SNHL at 2 kHz and higher frequencies | ||
| 520 | |a CONCLUSIONS: This study suggests that screening for SNHL could be an early indicator of MD. We propose that the audiometric profile for those with a MD diagnosis may have clinical triage utility | ||
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| 700 | 1 | |a Hasadsri, Linda |e verfasserin |4 aut | |
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