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Neurophysiology of hearing in patients with mucopolysaccharidosis type IV
Authors:Kyoko Nagao  Thierry Morlet  Elizabeth Haley  Jennifer Padilla  Julianne Nemith  Robert W. Mason  Shunji Tomatsu
Affiliation:1. Department of Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, United States;2. Department of Linguistics and Cognitive Science, University of Delaware, Newark, DE, United States;3. College of Health Sciences, University of Delaware, Newark, DE, United States;4. Georges Osborne College of Audiology, Salus University, Elkins Park, PA, United States;5. Department of Communication Science & Disorders, University of Pittsburgh, Pittsburgh, PA, United States;6. Siemens Healthcare Diagnostics Inc, Newark, DE, United States;g. Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States
Abstract:

Background

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.

Materials and methods

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).

Results

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.

Conclusion

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.
Keywords:Mucopolysaccharidosis IV  Auditory system  Electrophysiology  Audiological testing  Hearing impairment/loss  MPS  mucopolysaccharidosis  ABR  auditory brainstem response  DPOAE  distortion products of otoacoustic emission  MEMR  middle ear muscle reflex  PTA  pure tone average  C6S  chondroitin-6-sulfate  ERT  enzyme replacement therapy  GALNS  KS  keratan sulfate  GAG  glycosaminoglycan  ADL  activity of daily living  CNS  central nervous system  CT  Computed tomography  MR images  Magnetic resonance images
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