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Neurophysiology of hearing in patients with mucopolysaccharidosis type IV
Journal article   Peer reviewed

Neurophysiology of hearing in patients with mucopolysaccharidosis type IV

Kyoko Nagao, Thierry Morlet, Elizabeth Haley, Jennifer Padilla, Julianne Nemith, Robert W. Mason and Shunji Tomatsu
Molecular genetics and metabolism, v 123(4), pp 472-478
01 Apr 2018
DOI: https://doi.org/10.1016/j.ymgme.2018.02.002
PMID: 29472067
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Audiological testing Auditory system Electrophysiology Hearing impairment/loss Mucopolysaccharidosis IV
Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged between 12 and 38 years old) participated in the current study. We obtained auditory neurophysiological responses (auditory brainstem responses and otoacoustic emissions test) in addition to pure-tone audiometry and middle ear function tests (tympanometry and acoustic reflexes). The results indicated various levels and types of hearing loss with abnormal neurophysiological responses even in those patients with MPS IVA with normal pure tone thresholds. We also found a strong relationship between height (short stature is an indicator of skeletal severity) and hearing sensitivity as well as a strong relationship between height and outer hair cell function in the inner ear (measured by otoacoustic emissions) among MPS IVA patients. The strong correlation between reduced height and hearing loss indicates that patients with severe skeletal dysplasia may be at higher risk of developing more severe hearing loss. More importantly, the spectrum of hearing disorders indicates that MPS IV patients should have annual neurophysiological hearing tests in addition to audiometric testing from an early age regardless of their skeletal severity to more carefully monitor disease progression. •Patients with MPS IVA show abnormal function at the cochlea and auditory brainstem levels despite normal audiometric results.•A strong relation was found between hearing function and skeletal severity (height) in MPS IVA.•The results indicate various levels and types of hearing loss in patients with MPS IVA.•More severely affected patients in skeleton exhibit more severe level of hearing dysfunction.•Neurophysiological hearing tests should be conducted from an early age regardless of audiometric results in MPS IV.

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#3 Good Health and Well-Being

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Collaboration types
Industry collaboration
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Web of Science research areas
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
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