Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review

Belder, Jonas De; Matthysen, Stijn; Claes, Annes J.; Mertens, Griet; Heyning, Paul Van de; Rompaey, Vincent Van

doi:10.3389/fnins.2017.00735

Cited by 13 publications

(13 citation statements)

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“…Afterwards, the pressure difference drops (pressures in both scalae are high) and a loss of input pressure drive occurs, finally causing sensorineural hearing loss (17). Van Rompaey et al already suggested a correlation between these described fibrous tissue deposits and vestibular function loss (18,19). Their study in patients with bilateral severe-to-profound SNHL, eligible for cochlear implantation, but excluding DFNA9 patients, showed abnormalities on T2-weighted MRI correlating to caloric areflexia.…”

Section: Discussionmentioning

confidence: 98%

Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients

et al. 2020

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Background and Purpose: Radiologic abnormalities on computed tomography (CT), including narrowing or sclerosis of the semicircular canals (SCCs), and T2-weighted magnetic resonance imaging (MRI), including signal loss in the SCC, have been reported as potential biomarkers in patients with P51S mutations in the COCH gene (i.e., DFNA9). The aim of our study was to correlate caloric responses through electronystagmography (ENG) data with imaging results in DFNA9 patients. Materials and Methods: A retrospective study was performed in 45 patients; therefore, 90 ears with P51S mutations in the COCH gene were tested. Caloric responses and CT and MRI data were analyzed from June 2003 until May 2014. More than half of patients (54%) were candidates for cochlear implantation. Results: In our population, 91% of tested ears had sclerotic lesions and/or narrowing in one or more SCCs on CT scan. All tested ears had narrowing or signal loss in at least one SCC on T2-weighted MRI. The lateral SCC was affected in 87% on CT scan and 92% on MRI. However, in 83% of tested ears, all three SCCs were affected on MRI. Furthermore, in 77% of tested ears, caloric responses were reduced bilaterally, while 11.5% showed unilateral hypofunction and the other 11.5% had normal caloric responses. CT abnormalities correlated with hypofunction of caloric responses. This statistically significant difference was present if abnormalities were observed in at least one of the SCCs as well as in ipsilateral lateral SCC function loss. MRI abnormalities in at least one of the SCCs correlated with ENG hypofunction, but there was no direct correlation between lateral SCC abnormalities on MRI and caloric responses of the investigated lateral canal. Conclusion: Our retrospective analysis confirms the presence of CT and MRI abnormalities in DFNA9 patients with the P51S mutation in the COCH gene. A correlation between these radiologic features and vestibular function (tested by means of caloric response) was found in this population.

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Section: Discussionmentioning

confidence: 98%

Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients

et al. 2020

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“…The most frequent reported etiologies of BV are ototoxic (aminoglycosides antibiotics), Menière's disease and infections [2][3][4]. In Belgium and the Netherlands a relative higher proportion of genetic etiology is found due to a COCH mutation causing DFNA9 disease, which is the most common type of autosomal dominant non-syndromic deafness [5]. However, in about half of all BV patients no underlying etiology can be identified that caused their vestibular loss [2,6].…”

Section: Introductionmentioning

confidence: 99%

Prospective cohort study on the predictors of fall risk in 119 patients with bilateral vestibulopathy

et al. 2020

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“…Because of its close relationship to the cochlea, the vestibular system has also been implicated in cognitive decline (27). However, because earlier studies did not take a potentially concomitant sensorineural hearing loss in to account or were performed in a static condition, further research will be necessary to identify its role (28)(29)(30)(31)(32).…”

Section: Hearing Loss and Cognitive Decline Are Linkedmentioning

confidence: 99%

“…However, the results of studies investigating the effect of hearing aids on cognitive function in older adults are inconclusive (40)(41)(42)(43)(44)(45)(46)(47). Recent studies have also studied the impact of unilateral cochlear implantation on the cognitive capabilities of older adults with bilateral severe-to-profound sensorineural hearing loss (28,(48)(49)(50)(51)(52)(53)(54)(55)(56)(57)(58)(59)(60)(61). While cochlear implantation leads to a significant improvement of speech understanding in older adults and some improvement in cognition overall when compared to the preoperative performance, even experienced cochlear implant users still underperform when compared with their peers when matched for age, sex and education.…”

Section: Can Hearing Rehabilitation Slow Down Cognitive Decline?mentioning

confidence: 99%

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Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

Rompaey

2020

Front. Neurol.

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Hearing loss not only has a significant impact on the quality of life of patients and society, but its correlation with cognitive decline in an aging population will also increase the risk of incident dementia. While current management of hearing loss is focused on hearing rehabilitation (and essentially symptomatic), patients are suffering from the burden of progressive hearing loss before hearing aids or cochlear implants are fitted. Although these devices have a significant effect on speech understanding, they do not always lead to normal speech understanding, especially in noisy environments. A significant number of patients suffer from autosomal dominantly inherited disorders that can produce progressive sensorineural hearing loss. This includes DFNA9, a disorder caused by pathologic variants in the COCH gene that leads to post-lingual profound sensorineural hearing loss and bilateral vestibulopathy. Carriers of a pathogenic variant leading to DFNA9 can be diagnosed at the pre-symptomatic or early symptomatic stage which creates a window of opportunity for treatment. Preventing hearing loss from occurring or stabilizing progression would provide the opportunity to avoid hearing aids or cochlear implants and would be able to reduce the increased incidence of dementia. While innovative therapies for restoration of hearing have been studied for restoration of hearing in case of severe-to-profound sensorineural hearing loss and congenital hearing loss, further research is needed to study how we can modify disease progression in late-onset autosomal dominant hereditary sensorineural hearing loss. Recently, gene editing strategies have been explored in autosomal dominant disorders to disrupt dominant mutations selectively without affecting wild-type alleles.

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Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review

Cited by 13 publications

References 83 publications

Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients

Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients

Prospective cohort study on the predictors of fall risk in 119 patients with bilateral vestibulopathy

Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

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