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The long term goal of this proposal is to precisely characterize the auditory and vestibular abilities of children with Charcot-Marie-Tooth (CMT) and how these abilities evolve during the progression of the disorder. This information will be used to refine the management methods for hearing loss and vestibular disorders in these patients. Given that the phenotypic severity is variable within the CMT patient population, we predict that not all CMT patients will present with auditory and vestibular dysfunction. We will therefore collect specimens (i.e., buccal swabs and saliva) from study participants so that their DNA can be isolated and used to determine the genetic basis for auditory and vestibular dysfunction in peripheral neuropathies.
Aim #1: Evaluate the prevalence of auditory and vestibular disorders in children diagnosed with Charcot-Marie-Tooth.
We hypothesize that a significant number of children with Charcot-Marie-Tooth (CMT) will develop auditory and vestibular neuropathies, due to the progression of the disorder. We will examine the characteristics of auditory and vestibular abilities of children and how these relate to the type of CMT.
Aim #2: Examine the progression of hearing and vestibular abilities during the course of the disorder.
We hypothesize that the hearing and vestibular abilities of some children with CMT will deteriorate with time. We will repeat the auditory and vestibular testing on a yearly basis to precisely describe the progression of these abilities.
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| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of auditory disorders in children diagnosed with Charcot-Marie-Tooth Characteristics. | We will evaluate how many children with CMT have present hearing loss. The presence of hearing loss will be based on the results of the following tests (passed or failed): otoacoustic emissions, auditory brainstem responses, auditory event related potentials, audiometry and speech perception | 2 years |
| Prevalence of vestibular disorders in children diagnosed with Charcot-Marie-Tooth | We will evaluate how many children with CMT have present vestibular disorder. The presence of vestibular disorder will be based on the results of the following test (passed or failed): video head impulse test | 2 years |
| Progression of hearing loss | We will follow subjects longitudinally to evaluate the progression of hearing loss. The degree of hearing loss will be monitor over time to evaluate if changes are noticed. All tests listed in Outcome 1 will be repeated and compared to initial values to define the presence or absence of changes in the degree of hearing loss. | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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Children and young adults between the ages of 5 and 21 years diagnosed with Charcot-Marie-Tooth will be included.
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| Name | Affiliation | Role |
|---|---|---|
| Thierry Morlet, PhD | Nemours | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Nemours | Wilmington | Delaware | 19803 | United States |
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| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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Saliva and buccal swabs
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |