Auditory neuropathy and a mitochondrial disorder in a child: case study.
A child was referred for an audiologic evaluation, to include auditory brainstem evoked response testing, due to inconsistent responses to sound and delayed speech and language development. Results were characteristic of auditory neuropathy. In view of subsequent decline in motor function, a genetics evaluation was conducted, revealing a mitochondrial disorder. A brief overview of mitochondrial genetics in association with hearing loss is presented. The patient's audiologic profile is described and the implications for management are discussed.
Corley
V M
VM
Department of Speech-Language Pathology and Audiology, University of South Carolina, Columbia, USA.
Crabbe
L S
LS
D000161:Acoustic Stimulation / Q000379:methods; D002675:Child, Preschool; D003056:Cochlear Nerve / Q000473:pathology*; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology; D003389:Cranial Nerve Diseases / Q000150:complications* / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000235:genetics; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis / Q000209:etiology; D008279:Magnetic Resonance Imaging; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D019957:Motor Skills Disorders / Q000175:diagnosis / Q000209:etiology; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology; D010085:Oxidative Phosphorylation
D004272:DNA, Mitochondrial