Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies


Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies


Zwirner P; Wilichowski E






Child; Female; Humans; Male; Adult; Hearing Loss; Longitudinal Studies; Speech; adolescent; Preschool; IM; Auditory; Evoked Potentials; Acoustic Impedance Tests; Acoustic/ph [Physiology]; Audiometry; Brain Stem/ph [Physiology]; Friedreich Ataxia/di [Diagnosis]; Friedreich Ataxia/pp [Physiopathology]; Kearns-Sayer Syndrome/di [Diagnosis]; Kearns-Sayer Syndrome/pp [Physiopathology]; MELAS Syndrome/di [Diagnosis]; MELAS Syndrome/pp [Physiopathology]; Mitochondrial Encephalomyopathies/di [Diagnosis]; Mitochondrial Encephalomyopathies/pp [Physiopathology]; Otoacoustic Emissions; Pure-Tone; Reflex; Sensorineural/di [Diagnosis]; Sensorineural/pp [Physiopathology]; Spontaneous/ph [Physiology]


OBJECTIVE: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. STUDY DESIGN: From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. METHODS: The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. RESULTS: A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. CONCLUSIONS: The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders.


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Zwirner P; Wilichowski E, “Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies,” Pediatric Palliative Care Library, accessed December 2, 2023,