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Auditory function in Pelizaeus–Merzbacher disease

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Abstract

Pelizaeus–Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities. The aim of this study was to assess the auditory abilities in 18 patients with PMD by examining the functional processes along the central auditory pathways using auditory brainstem responses (ABR) and cortical auditory evoked potentials (CAEP) in response to speech sounds. The significant ABR anomalies confirm the existence of dyssynchrony previously described at the level of the brainstem in patients with PMD. Despite the significant auditory dyssynchrony observed at the level of the brainstem, CAEPs were present in most patients, albeit somehow abnormal in terms of morphology and latency, resembling a type of auditory neuropathy spectrum disorder.

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Acknowledgements

We thank all patients and their family for participating in our study; L. Ashley Greenwood, AuD., Rachel Crum, Emily Deeves, and Laura Grinstead for their help in assessing the patients; and Stacey Price for coordinating the study and scheduling patients. We acknowledge the Nemours Molecular Diagnostics Laboratory for identifying or confirming PMD-causing mutations.

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Authors and Affiliations

  1. Auditory Physiology and Psychoacoustics Research Laboratory, Center for Pediatric Auditory Speech Sciences, Nemours/Alfred I. duPont Hospital for Children, 1701 Rockland Rd., Wilmington, DE, 19803, USA

    Thierry Morlet & Kyoko Nagao

  2. Department of Linguistics and Cognitive Science, College of Arts and Science, University of Delaware, Newark, DE, USA

    Thierry Morlet & Kyoko Nagao

  3. Osborne College of Audiology, Salus University, Elkins Park, PA, USA

    Thierry Morlet

  4. Neurology Department, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    S. Charles Bean

  5. Genetics Department, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Sara E. Mora

  6. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Sarah E. Hopkins

  7. Nemours Biomedical Research, Center for Applied Clinical Genomics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Grace M. Hobson

Authors
  1. Thierry Morlet
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  2. Kyoko Nagao
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  3. S. Charles Bean
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  4. Sara E. Mora
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  5. Sarah E. Hopkins
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  6. Grace M. Hobson
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Corresponding author

Correspondence to Thierry Morlet.

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The authors declare that they have no conflicts of interest.

Ethical standards

The study was approved by the Nemours institutional review board (Nemours IRB #479277) and has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Patients had given their written informed consent to personal data processing for research purposes.

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Morlet, T., Nagao, K., Bean, S.C. et al. Auditory function in Pelizaeus–Merzbacher disease. J Neurol 265, 1580–1589 (2018). https://doi.org/10.1007/s00415-018-8884-x

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  • DOI: https://doi.org/10.1007/s00415-018-8884-x

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