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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review
Sebastian Roesch1, Anna O'Sullivan1,2, Georg Zimmermann3,4
1Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria.
Insights
Hearing loss is common in children with mitochondrial disease, often progressing over time. Awareness of this link is crucial for otolaryngologists managing these patients.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Hearing loss is a frequent clinical symptom in mitochondrial disease.
- Mitochondrial diseases currently lack a cure, making supportive care for symptoms like hearing loss essential.
- Understanding hearing loss in this context is vital for improving patient management.
Purpose of the Study:
- To summarize current knowledge on hearing loss in children with genetically confirmed mitochondrial disease.
- To identify consequences for patient care.
- To highlight the need for further research and standardized reporting.
Main Methods:
- Systematic literature review of Medline, Embase, and Cochrane Library.
- Included 23 articles with data on 75 individuals with childhood-onset hearing loss.
- Followed MOOSE criteria and registered protocol (PROSPERO: CRD42020165356).
Main Results:
- Hearing loss can be cochlear or retro-cochlear in various mitochondrial diseases.
- Analysis was limited by inhomogeneous reporting and methodological constraints.
- Retro-cochlear hearing loss appears more prevalent than anticipated, with a tendency for progression.
Conclusions:
- No general statement on hearing loss in pediatric mitochondrial disease is possible due to diverse characteristics.
- Otolaryngologists should consider mitochondrial disease as a potential cause of hearing loss.
- Standardized reporting and long-term follow-up are necessary for future research.
Objectives:
Hearing loss is a clinical symptom, frequently mentioned in the context of mitochondrial disease. With no cure available for mitochondrial disease, supportive treatment of clinical symptoms like hearing loss is of the utmost importance. The aim of this study was to summarize current knowledge on hearing loss in genetically proven mitochondrial disease in children and deduce possible and necessary consequences in patient care.
Methods:
Systematic literature review, including Medline, Embase, and Cochrane library. Review protocol was established and registered prior to conduction (International prospective register of systematic reviews-PROSPERO: CRD42020165356). Conduction of this review was done in accordance with MOOSE criteria.
Results:
A total of 23 articles, meeting predefined criteria and providing sufficient information on 75 individuals with childhood onset hearing loss was included for analysis. Both cochlear and retro-cochlear origin of hearing loss can be identified among different types of mitochondrial disease. Analysis was hindered by inhomogeneous reporting and methodical limitations.
Conclusion:
Overall, the findings do not allow for a general statement on hearing loss in children with mitochondrial disease. Retro-cochlear hearing loss seems to be found more often than expected. A common feature appears to be progression of hearing loss over time. However, hearing loss in these patients shows manifold characteristics. Therefore, awareness of mitochondrial disease as a possible causative background is important for otolaryngologists. Future attempts rely on standardized reporting and long-term follow-up.
Level Of Evidence:
NA Laryngoscope, 132:2459-2472, 2022.
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