title: Auditory function in children with Charcot-Marie-Tooth disease.
abstract: The peripheral manifestations of the inherited neuropathies are increasingly well characterized, but their effects upon cranial nerve function are not well understood. Hearing loss is recognized in a minority of children with this condition, but has not previously been systemically studied. A clear understanding of the prevalence and degree of auditory difficulties in this population is important as hearing impairment can impact upon speech/language development, social interaction ability and educational progress. The aim of this study was to investigate auditory pathway function, speech perception ability and everyday listening and communication in a group of school-aged children with inherited neuropathies. Twenty-six children with Charcot-Marie-Tooth disease confirmed by genetic testing and physical examination participated. Eighteen had demyelinating neuropathies (Charcot-Marie-Tooth type 1) and eight had the axonal form (Charcot-Marie-Tooth type 2). While each subject had normal or near-normal sound detection, individuals in both disease groups showed electrophysiological evidence of auditory neuropathy with delayed or low amplitude auditory brainstem responses. Auditory perception was also affected, with >60% of subjects with Charcot-Marie-Tooth type 1 and >85% of Charcot-Marie-Tooth type 2 suffering impaired processing of auditory temporal (timing) cues and/or abnormal speech understanding in everyday listening conditions.
authors.affiliation: Department of Audiology and Speech Pathology, The University of Melbourne, 550 Swanston Street, Parkville 3010, Australia. grance@unimelb.edu.au
authors.forename: Gary
authors.initials: G
authors.lastname: Rance
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Kristen
authors.initials: K
authors.lastname: Bayliss
authors.forename: Kathryn
authors.initials: K
authors.lastname: Gill
authors.forename: Caitlin
authors.initials: C
authors.lastname: O'Sullivan
authors.forename: Marny
authors.initials: M
authors.lastname: Whitechurch
mesh_terms: D000161:Acoustic Stimulation; D000293:Adolescent; D001304:Auditory Diseases, Central / Q000175:diagnosis / Q000209:etiology*; D001309:Auditory Threshold / Q000502:physiology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000150:complications* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology*; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D006311:Hearing Disorders / Q000209:etiology*; D006801:Humans; D008297:Male; D012044:Regression Analysis; D013067:Speech Perception / Q000502:physiology; D055815:Young Adult