Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

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.

[1]  R. Fifer.  Comments on Use of Diagnostic Testing and Intervention for Sensorineural Hearing Loss in US Children. , 2021, JAMA otolaryngology-- head & neck surgery.

[2]  A. Cheng,et al.  Use of Diagnostic Testing and Intervention for Sensorineural Hearing Loss in US Children From 2008 to 2018. , 2020, JAMA otolaryngology-- head & neck surgery.

[3]  T. Meitinger,et al.  Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases , 2020, EBioMedicine.

[4]  R. Scherer,et al.  How should systematic reviewers handle conference abstracts? A view from the trenches , 2019, Systematic Reviews.

[5]  M. Pronicki,et al.  Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. , 2019, International journal of pediatric otorhinolaryngology.

[6]  A. Jeyakumar,et al.  Genetic susceptibility to aminoglycoside ototoxicity. , 2019, International journal of pediatric otorhinolaryngology.

[7]  M. Murad,et al.  Methodological quality and synthesis of case series and case reports , 2018, BMJ Evidence-Based Medicine.

[8]  C. Traverso,et al.  Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy? , 2017, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

[9]  Olivier Sterkers,et al.  FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. , 2017, American journal of human genetics.

[10]  H. Prokisch,et al.  A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era , 2017, Neuropediatrics.

[11]  Carolyn J. Brown,et al.  Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance , 2017, Hearing Research.

[12]  K. Thangaraj,et al.  Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome , 2016, Clinical Neurology and Neurosurgery.

[13]  M. Tesařová,et al.  The phenotypic spectrum of fifty Czech m.3243A>G carriers. , 2016, Molecular genetics and metabolism.

[14]  V. Jaya,et al.  Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study , 2016, Indian Journal of Otolaryngology and Head & Neck Surgery.

[15]  R. McCreery,et al.  Children with Auditory Neuropathy Spectrum Disorder Fitted with Hearing Aids Applying the American Academy of Audiology Pediatric Amplification Guideline: Current Practice and Outcomes. , 2016, Journal of the American Academy of Audiology.

[16]  Zhaoxia Wang,et al.  The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia , 2015, Mitochondrial DNA.

[17]  M. Picot,et al.  Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction , 2015, Journal of the Neurological Sciences.

[18]  Dan-hua Zhao,et al.  Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies , 2014, Chinese medical journal.

[19]  J. Walter,et al.  Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin , 2014, European Journal of Pediatrics.

[20]  Shivaji Chalak,et al.  Establishment of Normative data for Monaural Recordings of Auditory Brainstem Response and its Application in Screening Patients with Hearing Loss: A Cohort Study. , 2013, Journal of clinical and diagnostic research : JCDR.

[21]  John H Grose,et al.  Objective hearing threshold estimation in children with auditory neuropathy spectrum disorder , 2013, The Laryngoscope.

[22]  M. Larsen,et al.  Sensorineural hearing loss in OPA1-linked disorders. , 2013, Brain : a journal of neurology.

[23]  R. Płoski,et al.  Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype , 2012, PloS one.

[24]  P. Tonin,et al.  Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient , 2012, Genetics research international.

[25]  R. O'reilly,et al.  Hearing loss in children with mitochondrial disorders. , 2011, International journal of pediatric otorhinolaryngology.

[26]  H. Waterham,et al.  Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy , 2010, Pediatric Research.

[27]  J. Ioannidis,et al.  The PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies That Evaluate Health Care Interventions: Explanation and Elaboration , 2009, Annals of Internal Medicine [serial online].

[28]  G. Rance,et al.  Speech and language outcomes in children with auditory neuropathy/dys-synchrony managed with either cochlear implants or hearing aids , 2009, International journal of audiology.

[29]  R. Patuzzi,et al.  Frequency-Specific Electrocochleography Indicates that Presynaptic and Postsynaptic Mechanisms of Auditory Neuropathy Exist , 2008, Ear and hearing.

[30]  R. Schwarzenbacher,et al.  OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. , 2008, Brain : a journal of neurology.

[31]  M. Mancuso,et al.  Mitochondrial Syndromic Sensorineural Hearing Loss , 2007, Bioscience reports.

[32]  G. Xing,et al.  Mitochondrial rRNA and tRNA and hearing function , 2007, Cell Research.

[33]  A. Gropman,et al.  Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy , 2006, Genetics in Medicine.

[34]  Jing Wang,et al.  OPA1 R445H mutation in optic atrophy associated with sensorineural deafness , 2005, Annals of neurology.

[35]  K. Kaga,et al.  Hearing evaluation in two sisters with a T8993G point mutation of mitochondrial DNA. , 2004, International journal of pediatric otorhinolaryngology.

[36]  P. Rustin,et al.  The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. , 2003, Journal of the American Society of Nephrology : JASN.

[37]  V. Raut,et al.  A Review of Cochlear Implantation in Mitochondrial Sensorineural Hearing Loss , 2003, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[38]  M. Kornhuber,et al.  Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. , 2001, Archives of neurology.

[39]  A. Komatsuzaki,et al.  Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres , 2001, The Journal of Laryngology & Otology.

[40]  P. Zwirner,et al.  Progressive Sensorineural Hearing Loss in Children With Mitochondrial Encephalomyopathies , 2001, The Laryngoscope.

[41]  G. Cortopassi,et al.  Mitochondrial defects and hearing loss , 2000, Cellular and Molecular Life Sciences CMLS.

[42]  M. Kaga,et al.  Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality , 2000, Brain and Development.

[43]  I. Olkin,et al.  Meta-analysis of observational studies in epidemiology - A proposal for reporting , 2000 .

[44]  R. Shepherd,et al.  Clinical findings for a group of infants and young children with auditory neuropathy. , 1999, Ear and hearing.

[45]  C. Sue,et al.  Cochlear origin of hearing loss in MELAS syndrome , 1998, Annals of neurology.

[46]  D. Turnbull,et al.  Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. , 1997, Brain : a journal of neurology.

[47]  M. Nishizawa,et al.  Audiologic Findings in Patients with a Point Mutation at Nucleotide 3,243 of Mitochondrial Dna , 1997, The Annals of otology, rhinology, and laryngology.

[48]  I. Rapin,et al.  Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. , 1994, International journal of pediatric otorhinolaryngology.

[49]  P. Froguel,et al.  Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu(UUR) gene , 1994, Diabetes.

[50]  P. Froguel,et al.  Prevalence of mitochondrial gene mutations in families with diabetes mellitus , 1993, The Lancet.

[51]  廖述朗,et al.  Autosomal Dominant Optic Atrophy , 1993, Definitions.

[52]  M. Ho,et al.  Progressive weakness, ptosis and pseudomyopathic face as the presenting features in a patient with narcolepsy. , 2017 .

[53]  I. Knerr,et al.  A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders , 2016, European Journal of Pediatrics.

[54]  Q. Tian,et al.  Right auditory dysfunction during acute Leber ’ s hereditary optic neuropathy harboring the 14484 mtDNA mutation : a case report , 2016 .

[55]  Oxford Centre for Evidence-based Medicine Levels of Evidence (January 2001) , 2014 .

[56]  M. Larsen,et al.  Sensorineural hearing loss in OPA1-linked disorders. , 2013, Brain : a journal of neurology.

[57]  Lei Gao,et al.  Auditory neuropathy. , 2015, Handbook of clinical neurology.

[58]  A. Rees,et al.  The spectrum of hearing loss due to mitochondrial DNA defects. , 2000, Brain : a journal of neurology.

[59]  H. Jacobs.  Mitochondrial deafness. , 1997, Annals of medicine.