Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

Abstract

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

Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome

“…Since the actual site of malfunction along the auditory pathway may have an in uence on CI rehabilitation success (10), knowledge on type of HL is mandatory for preoperative counselling. Based on previous ndings from our group (11), we expected predominantly cochlear HL to be identi ed in MEGD(H)EL patients. The etiological allocation of HL among the 30 affected individuals in this cohort is quite variable.…”

The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss

“…Finally, another study was performed on individuals with mitochondrial disease that identified most individuals with mitochondrial disease in their cohort presented with hearing loss (Yelverton et al 2013). In addition, more thorough review articles on hearing loss and mitochondrial disease are available (Edmonds et al 2002;Roesch et al 2022;van Kempen et al 2022) and support that SNHL is an important consideration in the clinical manifestation of mitochondrial disorders. However, these studies did not examine whether genetic testing at the onset of SNHL (or initial confirmation of SNHL) could significantly reduce the time to a mitochondrial disease diagnosis.…”

“…Mitochondrial disorders are a clinically heterogeneous group of conditions caused by pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA that can present in the neonatal phase, early childhood, adolescence, or adulthood (Roesch et al 2022). The disease prevalence was estimated at 4.7 per 100,000 in children (Roesch et al 2022). However, the exact prevalence is difficult to estimate due to the rarity of the disease and difficulty in diagnosing this multisystem disorder.…”

“…For example, a study by Edmonds et al (2002) explored 40 patients with mitochondrial disease and identified hearing loss as the most common clinical finding in the cohort. The pathophysiology and audiologic phenotype based on the genotype are not fully characterized; moreover, hearing loss may be subclinical on standard assessment approaches and hearing screening timelines which may indicate hearing loss is underestimated in the literature (Chinnery et al 2000; Roesch et al 2022).…”

“…Previous studies have described hearing loss in mitochondrial disease patients (Roesch et al 2022). SNHL reports vary in degree (mild to profound) with the cochlear origin most supported by the literature (Chinnery et al 2000; Santarelli et al 2016).…”