432
Views
8
CrossRef citations to date
0
Altmetric
Original Article

The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits

, , &
Pages 902-912 | Received 22 May 2018, Accepted 12 Jun 2019, Published online: 18 Jul 2019

References

  • Bähr, M., F. Andres, V. Timmerman, M. Nelis, C. Van Broeckhoven, and J. Dichgans. 1999. “Central Visual, Acoustic, and Motor Pathway Involvement in a Charcot-Marie-Tooth Family with an Asn205Ser Mutation in the Connexin 32 Gene.” Journal of Neurology, Neurosurgery, and Psychiatry 66 (2): 202–206. doi:10.1136/jnnp.66.2.202.
  • Berlin, C. I., L. J. Hood, T. Morlet, D. Wilensky, L. Li, K. R. Mattingly, J. Taylor-Jeanfreau., et al. 2010. “Multi-Site Diagnosis and Management of 260 Patients with Auditory Neuropathy/Dys-Synchrony (Auditory Neuropathy Spectrum Disorder*).” International Journal of Audiology 49 (1): 30–43. doi:10.3109/14992020903160892.
  • Bird, T. 2016a.“Charcot-Marie-Tooth Hereditary Neuropathy Overview.” Gene Reviews. Accessed 26 March 2015.
  • Bird, T. 2016b. “Charcot-Marie-Tooth Neuropathy X Type 1.” Gene Reviews. Accessed 26 March 2015.
  • Boerkoel, C. F., H. Takashima, C. A. Garcia, R. K. Olney, J. Johnson, K. Berry, P. Russo., et al. 2002. “Charcot‐ Marie‐Tooth Disease and Related Neuropathies: Mutation Distribution and Genotype‐Phenotype Correlation.” Annals of Neurology 51 (2): 190–201. doi:10.1002/ana.10089
  • Clemis, J. D., and C. N. Sarno. 1980. “The Acoustic Reflex Latency Test: Clinical Application.” The Laryngoscope 90 (4): 601–611.
  • Cox, R., and G. Alexander. 1995. “The Abbreviated Profile of Hearing Aid Benefit.” Ear and Hearing 16.2: 176–186.
  • Davies, J., D. John, A. Jones, and S. Stephens. 1988. “Tympanometry as a Screening Test for Treatable Hearing Loss in the Elderly.” British Journal of Audiology 22 (2): 119–121. doi:10.3109/03005368809077806
  • Dorn, P. A., P. Piskorski, D. H. Keefe, S. T. Neely, and M. P. Gorga. 1998. “On the Existence of an Age/Threshold/Frequency Interaction in Distortion Product Otoacoustic Emissions.” The Journal of the Acoustical Society of America 104 (2): 964–971. doi:10.1121/1.423339.
  • Fridman, V., B. Bundy, M. M. Reilly, D. Pareyson, C. Bacon, J. Burns, J. Day., et al. 2015. “CMT Subtypes and Disease Burden in Patients Enrolled in the Inherited Neuropathies Consortium Natural History Study: A Cross-Sectional Analysis.” Journal of Neurology, Neurosurgery, and Psychiatry 86 (8): 873–878. doi:10.1136/jnnp-2014-308826
  • Gelfand, S., T. Schwander, and S. Silman. 1990. “Acoustic Reflex Thresholds in Normal and Cochlear- Impaired Ears: Effects of No-Response Rates on 90th Percentiles in a Large Sample.” Journal of Speech and Hearing Disorders 55 (2): 198–205. doi:10.1044/jshd.5502.198
  • Hood, L. J., C. I. Berlin, J. Bordelon, and K. Rose. 2003. “Patients with Auditory Neuropathy/Dys-Synchrony Lack Efferent Suppression of Transient Evoked Otoacoustic Emissions.” Journal of the American Academy of Audiology 14 (6): 302–313.
  • Jerger, J. 1978. “Prediction of Sensorineural Hearing Level from the Brainstem Evoked Response.” Archives of Otolaryngology 104 (8): 456–461. doi:10.1001/archotol.1978.00790080038010
  • Jerger, J., and K. Johnson. 1988. “Interactions of Age, Gender, and Sensorineural Hearing Loss on ABR Latency.” Ear and Hearing 9 (4): 168–176. doi:10.1097/00003446-198808000-00002
  • Killion, M., P. Niquette, L. Revit, and M. Skinner. 2001. “Quick SIN and BKB‐SIN, Two New Speech‐in-Noise Tests Permitting SNR-50 Estimates in 1 to 2 Min.” The Journal of the Acoustical Society of America 109 (5): 2502–2502. doi:10.1121/1.4744912
  • Kraus, N., A. R. Bradlow, M. A. Cheatham, J. Cunningham, C. D. King, D. B. Koch, T. G. Nicol, T. J. McGee3, L. K. Stein, and B. A. Wright. 2000. “Consequences of Neural Asynchrony: A Case of Auditory Neuropathy.” Journal of the Association for Research in Otolaryngology 1 (1): 33–45. doi:10.1007/s101620010004.
  • Kujawa, S., and M. Liberman. 1997. “Conditioning-Related Protection from Acoustic Injury: Effects of Chronic Deefferentation and Sham Surgery.” Journal of Neurophysiology 78 (6): 3095–3106. doi:10.1152/jn.1997.78.6.3095.
  • Moser, T., and A. Starr. 2016. “Auditory Neuropathy—Neural and Synaptic Mechanisms.” Nature Reviews Neurology 12 (3): 135. doi:10.1038/nrneurol.2016.10.
  • Musiek, F. E., D. J. Weider, and R. J. Mueller. 1982. “Audiologic Findings in Charcot-Marie-Tooth Disease.” Archives of Otolaryngology 108 (9): 595–599. doi:10.1001/archotol.1982.00790570061015
  • Naeve, S., R. Margolis, S. Levine, and E. Fournier. 1992. “Effect of Ear Canal Air Pressure on Evoked Otoacoustic Emissions.” The Journal of the Acoustical Society of America 91 (4): 2091–2095. doi:10.1121/1.403695.
  • Nicholson, G., and A. Corbett. 1996. “Slowing of Central Conduction in X-Linked Charcot-Marie-Tooth Neuropathy Shown by Brainstem Auditory Evoked Responses.” Journal of Neurology, Neurosurgery, and Psychiatry 61 (1): 43–46. doi:10.1136/jnnp.61.1.43.
  • NIH. 2007. “Charcot-Marie-Tooth Disease Fact Sheet.” National Institute of Neurologic Disorders and Stroke.
  • Otsuka, S., M. Tsuzaki, J. Sonoda, S. Tanaka, and S. Furukawa. 2016. “A Role of Medial Olivocochlear Reflex as a Protection Mechanism from Noise-Induced Hearing Loss Revealed in Short-Practicing Violinists.” PLoS One 11 (1): e0146751. doi:10.1371/journal.pone.0146751
  • Panosyan, F. B., M. Laura, A. M. Rossor, C. Pisciotta, G. Piscosquito, J. Burns, J. Li., et al. 2017. “Cross-Sectional Analysis of a Large Cohort with X-Linked Charcot-Marie-Tooth Disease (CMTX1).” Neurology 89 (9): 927–935. doi:10.1212/WNL.0000000000004296.
  • Pearce, J. 2006. “Dejerine-Sottas Disease (Progressive Hypertrophic Polyneuropathy).” European Neurology 55.2: 115–117. doi:10.1159/000092790.
  • Perneger, T. 1998. “What’s Wrong with Bonferroni Adjustments.” BMJ: British Medical Journal 316 (7139): 1236. doi: 10.1136/bmj.316.7139.1236
  • Rajan, R. 2000. “Centrifugal Pathways Protect Hearing Sensitivity at the Cochlea in Noisy Environments That Exacerbate the Damage Induced by Loud Sound.” Journal of Neuroscience 20 (17): 6684–6693. doi:10.1523/JNEUROSCI.20-17-06684.2000
  • Rance, G., D. Chisari, F. O'Hare, L. Roberts, J. Shaw, K. Jandeleit-Dahm, and D. Szmulewicz. 2014. “Auditory Neuropathy in Individuals with Type 1 Diabetes.” Journal of Neurology 261 (8): 1531–1536. doi:10.1007/s00415-014-7371-2.
  • Rance, G., M. M. Ryan, K. Bayliss, K. Gill, C. O'Sullivan, and M. Whitechurch. 2012. “Auditory Function in Children with Charcot–Marie–Tooth Disease.” Brain 135 (5): 1412–1422. doi:10.1093/brain/aws085.
  • Rance, G., and A. Starr. 2015. “Pathophysiological Mechanisms and Functional Hearing Consequences of Auditory Neuropathy.” Brain 138 (11): 3141–3158. doi:10.1093/brain/awv270.
  • Reilly, M., and M. Shy. 2009. “Diagnosis and New Treatments in Genetic Neuropathies.” Journal of Neurology, Neurosurgery, and Psychiatry 80 (12): 1304–1314. doi:10.1136/jnnp.2008.158295.
  • Rothman, K. 1990. “No Adjustments Are Needed for Multiple Comparisons.” Epidemiology 1 (1): 43–46. doi:10.1097/00001648-199001000-00010
  • Roup, C., T. Wiley, S. Safady, and D. Stoppenbach. 1998. “Tympanometric Screening Norms for Adults.” American Journal of Audiology 7 (2): 55–60. doi:10.1044/1059-0889(1998/014).
  • Shy, M. E., J. Blake, K. Krajewski, D. R. Fuerst, M. Laura, A. F. Hahn, J. Li, R. A. Lewis, and M. Reilly. 2005. “Reliability and Validity of the CMT Neuropathy Score as a Measure of Disability.” Neurology 64 (7): 1209–1214. doi:10.1212/01.WNL.0000156517.00615.A3.
  • Smith, D., and A. Keil. 2015. “The Biological Role of the Medial Olivocochlear Efferents in Hearing: Separating Evolved Function from Exaptation.” Frontiers in Systems Neuroscience 9: 12. doi: 10.3389/fnsys.2015.00012.
  • Starr, A., and L. J. Achor. 1975. “Auditory Brainstem Responses in Neurological Disease.” Archives of Neurology 32 (11): 761–768. doi:10.1001/archneur.1975.00490530083009
  • Starr, A., T. W. Picton, Y. Sininger, L. J. Hood, and C. I. Berlin. 1996. “Auditory Neuropathy.” Brain 119 (3): 741–753. doi:10.1093/brain/119.3.741.
  • Starr, A., Y. Sininger, T. Nguyen, H. J. Michalewski, S. Oba, and C. Abdala. 2001. “Cochlear Receptor (Microphonic and Summating Potentials, Otoacoustic Emissions) and Auditory Pathway (Auditory Brainstem Potentials) Activity in Auditory Neuropathy.” Ear and Hearing 22 (2): 91–99. doi:10.1097/00003446-200104000-00002
  • Starr, A., Y. S. Sininger, and H. Pratt. 2000. “The Varieties of Auditory Neuropathy.” Journal of Basic and Clinical Physiology and Pharmacology 11 (3): 215–230.
  • Stojkovic, T., P. Latour, A. Vandenberghe, J. Hurtevent, and P. Vermersch. 1999. “Sensorineural Deafness in X-Linked Charcot-Marie-Tooth Disease with Connexin 32 Mutation (R142Q).” Neurology 52 (5): 1010–1010. doi: doi:10.1212/WNL.52.5.1010.
  • Stover, L., and S. J. Norton. 1993. “The Effects of Aging on Otoacoustic Emissions.” The Journal of the Acoustical Society of America 94 (5): 2670–2681. doi:10.1121/1.407351.
  • Stuart, A., and D. P. Phillips. 1996. “Word Recognition in Continuous and Interrupted Broadband Noise by Young Normal-Hearing, Older Normal-Hearing, and Presbyacusic Listeners.” Ear and Hearing 17 (6): 478–489. doi:10.1097/00003446-199612000-00004
  • Studebaker, G. A., 1985. “A Rationalized Arcsine Transform.” Journal of Speech, Language, and Hearing Research 28 (3): 455–462. doi:10.1044/jshr.2803.455
  • Studebaker, G. A., D. M. McDaniel, and R. L. Sherbecoe. 1995. “Evaluating Relative Speech Recognition Performance Using the Proficiency Factor and Rationalized Arcsine Differences.” Journal of the American Academy of Audiology 6: 173–173.
  • Timmerman, V., V. Alleene, A. Strickland, and S. Züchner. 2014. “Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.” Genes 5.1: 13–32. doi:10.3390/genes5010013.
  • Van Camp, K., R. Margolis, R. Wilson, W. Creten, and J. Shanks. 1986. “Principles of Tympanometry.” ASHA Monographs 1 (24): 1–88.
  • Van der Drift, J. F. C., M. P. Brocaar, and G. A. Van Zanten. 1987. “The Relation between the Pure-Tone Audiogram and the Click Auditory Brainstem Response Threshold in Cochlear Hearing Loss.” International Journal of Audiology 26 (1): 1–10. doi:10.3109/00206098709078402
  • Xu, Y., M. Cheatham, and J. Siegel. 2015. “Separating Medial Olivocochlear from Acoustic Reflex Effects on Transient Evoked Otoacoustic Emissions in Unanesthetized Mice.” In AIP Conference Proceedings Vol. 1703, No. 1, p. 090026. Melville (NY): AIP Publishing.
  • Zeng, F. G., Y. Y. Kong, H. J. Michalewski, and A. Starr. 2005. “Perceptual Consequences of Disrupted Auditory Nerve Activity.” Journal of Neurophysiology 93 (6): 3050–3063. doi:10.1152/jn.00985.2004.
  • Zeng, F. G., and S. Liu. 2006. “Speech Perception in Individuals with Auditory Neuropathy.” Journal of Speech, Language, and Hearing Research 49 (2): 367–380. doi:10.1044/1092-4388(2006/029).
  • Zeng, F. G., S. Oba, S. Garde, Y. Sininger, and A. Starr. 1999. “Temporal and Speech Processing Deficits in Auditory Neuropathy.” Neuroreport 10 (16): 3429–3435. doi:10.1097/00001756-199911080-00031

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.