Cochlear implantation in a patient with sensori-neural deafness secondary to Charcot−Marie−Tooth disease

Goswamy, Jay; Bruce, Iain; Green, Kevin M J; O’Driscoll, Martin

doi:10.1179/1754762811y.0000000021

Cited by 18 publications

(16 citation statements)

References 16 publications

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“…To our knowledge, only three patients suffering from IPN and AN received a cochlear implant (absence of information about CMT type or hearing loss type by Anzalone et al, ; auditory neuropathy and absence of variant in PMP22 or GJB1 by Goswamy, Bruce, Green, & O’Driscoll, ; cochlear and auditory nerve dysfunction with a point pathogenic variant in PMP22, c.193G>T, p.(Val65Phe) by Postelmans et al, ). Our patient XIV also benefited from this surgery.…”

Section: Discussionmentioning

confidence: 99%

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Lerat

Magdelaine

Roux

et al. 2019

Molec Gen & Gen Med

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Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known. Methods The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype‐genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed. Results Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was diagnosed in 15 cases and axonal neuropathy in 12 cases. HL varied from mild to profound. Five cases of auditory neuropathy were noticed. Diagnosis was made for 60% of these patients. Seven novel pathogenic variants were discovered in five different genes: PRPS1; MPZ; SH3TC2; NEFL; and ABHD12. Two patients with PMP22 variant, had also an additional variant in COCH and MYH14 respectively. No pathogenic variant was found at the DFNB1 locus. Genotype‐phenotype correlations do exist, especially with SH3TC2, PRPS1, ABHD12, NEFL, and TRPV4. Conclusion Involvement of PMP22 is not enough to explain hearing loss in patients suffering from IPN. HL can be due to cochlear impairment and/or auditory nerve dysfunction. HL is certainly underdiagnosed, and should be evaluated in every patient suffering from IPN.

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Section: Discussionmentioning

confidence: 99%

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Lerat

Magdelaine

Roux

et al. 2019

Molec Gen & Gen Med

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“…One report of an individual with CMT who underwent cochlear implantation showed postoperative speech discrimination score of 54%, indicating a relatively poor result but that that some improvement in possible even in the face of likely auditory nerve degeneration . Other hereditary progressive motor and sensory neuropathies with auditory neuropathy such as Friedreich ataxia are likely to have similar lesions within the spiral ganglion .…”

Section: Genetic Lesions Affecting the Spiral Ganglion And Auditory Nmentioning

confidence: 99%

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

Shearer

Hansen

2019

Laryngoscope Investig Oto

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Cochlear implantation has become the standard‐of‐care for adults and children with severe to profound hearing loss. There is growing evidence that qualitative as well as quantitative deficits in the auditory nerve may affect cochlear implant (CI) outcomes. Auditory neuropathy spectrum disorder (ANSD) is characterized by dysfunctional transmission of sound from the cochlea to the brain due to defective synaptic function or neural conduction. In this review, we examine the precise mechanisms of genetic lesions causing ANSD and the effect of these lesions on CI outcomes. Reviewed data show that individuals with lesions that primarily affect the cochlear sensory system and the synapse, which are bypassed by the CI, have optimal CI outcomes. Individuals with lesions that affect the auditory nerve show poor performance with CIs, likely because neural transmission of the electrical signal from the CI is affected. We put forth a nuanced molecular classification of ANSD that has implications for preoperative counseling for patients with this disorder prior to cochlear implantation. We propose that description of ANSD patients should be based on the molecular site of lesion typically derived from genetic evaluation (synaptopathy vs. neuropathy) as this has implications for expected CI outcomes. Improvements in our understanding of genetic site of lesions and their effects on CI function should lead to better CI outcomes, not just for individuals with auditory neuropathy, but all individuals with hearing loss.

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“…Charcot-Marie-Tooth disease (CMT) is one of the most prevalent inherited sensori-motor neuropathies (HSMN), affecting approximately one in 2500 people in the United States [104]. Clinical findings include a progressive motor and sensory neuropathy, with a variability in inheritance, severity and neural damage localization, along with a SNHL with disproportionately poor speech perception compared to the loss expected from the cochlear impairment [105]. For this reason, CMT was included in the early description of auditory neuropathy [8].…”

Section: Auditory Neuropathymentioning

confidence: 99%

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

Siati

Rosenzweig

Gersdorff

et al. 2020

JCM

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Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments characterized by deteriorated speech perception, despite relatively preserved pure-tone detection thresholds. Affected individuals usually present with abnormal auditory brainstem responses (ABRs), but normal otoacoustic emissions (OAEs). These electrophysiological characteristics have led to the hypothesis that ANSD may be caused by various dysfunctions at the cochlear inner hair cell (IHC) and spiral ganglion neuron (SGN) levels, while the activity of outer hair cells (OHCs) is preserved, resulting in discrepancies between pure-tone and speech comprehension thresholds. The exact prevalence of ANSD remains unknown; clinical findings show a large variability among subjects with hearing impairment ranging from mild to profound hearing loss. A wide range of prenatal and postnatal etiologies have been proposed. The study of genetics and of the implicated sites of lesion correlated with clinical findings have also led to a better understanding of the molecular mechanisms underlying the various forms of ANSD, and may guide clinicians in better screening, assessment and treatment of ANSD patients. Besides OAEs and ABRs, audiological assessment includes stapedial reflex measurements, supraliminal psychoacoustic tests, electrocochleography (ECochG), auditory steady-state responses (ASSRs) and cortical auditory evoked potentials (CAEPs). Hearing aids are indicated in the treatment of ANSD with mild to moderate hearing loss, whereas cochlear implantation is the first choice of treatment in case of profound hearing loss, especially in case of IHC presynaptic disorders, or in case of poor auditory outcomes with conventional hearing aids.

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Cochlear implantation in a patient with sensori-neural deafness secondary to Charcot−Marie−Tooth disease

Abstract: This report demonstrates that cochlear implantation is an option to rehabilitate severe-to-profound hearing loss in adults with auditory dys-synchrony secondary to CMT disease. Progress post-implantation is likely to be slower than for the average CI user.

Cited by 18 publications

References 16 publications

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports

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