Hearing loss in children with mitochondrial disorders

Chennupati, Sri Kiran; Levi, Jessica R.; Loftus, Patricia A.; Jornlin, Carly; Morlet, Thierry; O’Reilly, Robert

doi:10.1016/j.ijporl.2011.08.019

Cited by 14 publications

(5 citation statements)

References 20 publications

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“…The search strategy yielded 984 records (Fig. 1 and Table II), of which 23, detailing a total of 75 individuals with genetically proven MD and sufficient data on hearing loss, were eligible for final inclusion and analysis 10,16,25–45 …”

Section: Resultsmentioning

confidence: 99%

“…1 and Table II ), of which 23, detailing a total of 75 individuals with genetically proven MD and sufficient data on hearing loss, were eligible for final inclusion and analysis. 10 , 16 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45…”

Section: Resultsmentioning

confidence: 99%

“…However, authors like Gold et al 11 have reported of a mixed type of hearing loss in patients with MD, and in recent year there has been a growing number of authors reporting on MD patients with hearing loss originating from any structure central to the cochlea. 29 , 37 Authors mainly referred to a publication by Starr et al from 1996, 15 describing auditory characteristics of AN in detail.…”

Section: Discussionmentioning

confidence: 99%

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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

et al. 2022

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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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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

et al. 2022

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“…This study suggests that SNHL is a feature of mitochondrial disease and should be considered in the diagnostic workup and management of patients with suspected mitochondrial disease. A third study on children with mitochondrial disorders found that 10 of 26 patients had SNHL that ranged from mild to moderate/profound (Chennupati et al 2011). They describe 3/10 having high-frequency hearing loss, 3/10 with low-frequency hearing loss and the remaining 4 patients with hearing loss across all frequencies.…”

Section: Introductionmentioning

confidence: 99%

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

Koleilat,

Poling,

Schimmenti

et al. 2023

Ear &Amp; Hearing

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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.

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“…It is most commonly sensorineural and progressive affecting mainly the high frequencies [ 7 ]. More variable patterns also occur and in these patients HI affects all frequencies, is not always progressive and can be of the conductive or mixed type [ 9 ]. Auditory neuropathy spectrum disorder (ANSD) is a clinical syndrome characterized by evidence of cochlear function in conjunction with an aberrant auditory neural system.…”

Section: Introductionmentioning

confidence: 99%

Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment

et al. 2015

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BackgroundMutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 genes among Finnish children, we studied a ten-year cohort of hearing impaired children born in Northern Finland.MethodsWe studied children, who had been born in Northern Finland in 1993–2002 and who had been ascertained to have hearing impairment by 31 December 2007. Samples from 103 children were sequenced in order to find mutations in the MT-RNR1 and MT-RNR2 genes.ResultsOne child harboured the pathogenic m.1555A > G mutation in MT-RNR1 suggesting a frequency of 4.4/100,000 in the Finnish paediatric population. In addition, eight rare variants and 13 polymorphisms were found in MT-RNR1 and MT-RNR2 genes. Five of the rare variants were deemed to be haplogroup-specific polymorphisms rather than putative pathogenic mutations, while the remaining three variants have been reported in various haplogroups. Among them m.990 T > C occurs at a conserved site.ConclusionsThe presence of m.990 T > C variant in various haplogroups and the rather high degree of conservation at this site suggest that this transition is a pathogenic rather than homoplasic neutral variant. Identification of further patients with m.990 T > C and segregation analysis in their families should help in determining the pathogenic potential of this variant.

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Hearing loss in children with mitochondrial disorders

Cited by 14 publications

References 20 publications

Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

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

Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment

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