Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct – clinical challenges, surgical results, and complications

Mey, Kristianna; Bille, Mikkel; Cayé‐Thomasen, Per

doi:10.1080/00016489.2016.1185538

Cited by 19 publications

(24 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Equally important is the fact that none of the subjects in the present, SLC26A4 mutations positive cohort showed any other types of cochlear morphology than IP‐II. The clinical importance of this finding is that the IP‐II malformation does not bring with it an increased risk of “gusher” from the cochleostoma during cochlear implantation, as earlier embryological and more severe malformations may do …”

Section: Discussionmentioning

confidence: 96%

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

Mey¹,

Muhamad

Tranebjærg

et al. 2019

The Laryngoscope

Self Cite

View full text Add to dashboard Cite

Objective: To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss.Methods: In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing of SLC26A4, and 113 had retrievable images for re-assessment of inner ear morphology. The association between the number of mutant alleles in SLC26A4, inner ear morphology (including endolymphatic sac size and protein content on magnetic resonance imaging), and hearing level (pure tone average) was explored.Results: Biallelic SLC26A4 mutations (M2) occurred in three-quarters of the cohort and was invariably associated with poor hearing; in 87%, it was associated with incomplete partition type II of the cochlea as well as enlarged endolymphatic sac and vestibular aqueduct. M1 or M0 individuals exhibited a greater variability in inner ear morphology. Endolymphatic sac size and presence of "high-protein" sac contents were significantly higher in M2 individuals compared to M1 and M0 individuals.Conclusion: The number of SLC26A4 mutations is associated with severity and variability of inner ear morphology and hearing level in individuals with PS or NSEVA. M2 individuals have poorer hearing and present largely incomplete partition type II of the cochleas with enlarged endolymphatic sacs, whereas individuals with M1 and no detectable SLC26A4 mutations have less severe hearing loss and more diverse inner ear morphology.

show abstract

Section: Discussionmentioning

confidence: 96%

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

Mey¹,

Muhamad

Tranebjærg

et al. 2019

The Laryngoscope

Self Cite

View full text Add to dashboard Cite

show abstract

“…Kubo et al proposed the subdivision of postoperative vertigo into three groups: early dizziness, a continuous type of dizziness, and delayed vertigo with predominant dizziness qualities for each type . Mey et al distinguished between patients with postoperative vertigo starting 24 hours to 1 week (12.7%), 1 week to 6 months (9.1%), and more than 6 months (5.4%) . We searched for all studies reporting on postoperative vertigo quality and possible changes compared with their preoperative state to detect a further subgroup of patients that suffer an impact of cochlear implantation on their vestibular function .…”

Section: Discussionmentioning

confidence: 99%

“…1 Mey et al distinguished between patients with postoperative vertigo starting 24 hours to 1 week (12.7%), 1 week to 6 months (9.1%), and more than 6 months (5.4%). 102 We searched for all studies reporting on postoperative vertigo quality and possible changes compared with their preoperative state to detect a further subgroup of patients that suffer an impact of cochlear implantation on their vestibular function. 17,[19][20][21]23,24,[26][27][28][29][30] Hence, up to one-fourth of patients either suffer a new onset of vertigo or a change in vertigo quality after cochlear implantation.…”

Section: Discussionmentioning

confidence: 99%

Meta‐analysis of subjective complaints of vertigo and vestibular tests after cochlear implantation

et al. 2018

View full text Add to dashboard Cite

Cochlear implantation has a significant impact on subjective vertigo and vestibular receptor function. This is affected by the patient's age at the time of surgery. The surgical technique (round window or cochleostomy) may influence the outcome, but this requires further investigation. Younger patients may compensate better following vestibular dysfunction. Perioperative testing is required to correlate vestibular impairment and subjective complaints. Laryngoscope, 2018 Laryngoscope, 128:2110-2123, 2018.

show abstract

“…[10][11][12][13] Despite the fact that EVA can result from various causes, most of the previous studies reporting the outcome of CI in patients with EVA have not included the genetic data. [6][7][8][9]14,15) A study by Mey, et al 16) included the results of genetic analysis but only reported the surgical outcome and complications of CI in patients with EVA. Lai, et al 17) reported the results of SLC26A4 mutations but did not compare the outcome of CI according to mutation types.…”

Section: Introductionmentioning

confidence: 99%

Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations

Song¹,

Yoo²,

Choi³

et al. 2017

Korean J Otorhinolaryngol-Head Neck Surg

View full text Add to dashboard Cite

Background and ObjectivesZZMutations of the SLC26A4 gene cause congenital hearing loss and enlarged vestibular aqueduct (EVA). A considerable proportion of patients with SL-C26A4 mutations have significant residual hearing at birth that eventually worsen and become the cause for cochlear implantation (CI) later in their adolescence or adulthood. We analyzed the auditory outcome and prognostic factors of CI in patients with EVA and biallelic SLC26A4 mutations showing progressive early-onset hearing loss, who eventually had implantation in their adolescent or adult periods. Subjects and MethodZZSixteen patients with EVA carrying biallelic SLC26A4 mutations who received CI after 12 years of age were included for analysis. The outcome and prognostic factors of CI were analyzed. The postoperative follow-up period ranged from 3 to 48 months. ResultsZZThe age at CI ranged from 12 to 44 years. The categories of auditory performance score was significantly improved after CI from 3.1 to 4.9 (p＜0.05). The mean sentence scores improved significantly in the auditory-visual and auditory-only conditions (p＜0.05). The significant prognostic factors were measurable bone conduction thresholds, preoperative residual hearing, recent history of sudden aggravation of hearing loss, and preoperative speech intelligibility rating scores. There was a tendency of lower postoperative sentence scores in the group with homozygous H723R mutation, but statistical significance was not reached. ConclusionZZDespite the early-onset of hearing loss, significant improvement in auditory performance can be expected after CI in adolescent and adult patients with EVA and biallelic SLC26A4 mutations. Significant prognostic factors should be considered in selecting candidates and preoperative counseling for CI.

show abstract

Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct – clinical challenges, surgical results, and complications

Abstract: Intra-operative risks of gushing/oozing and post-operative vertigo are the primary clinical issues in PS/NSEVA patients regarding CI. Nonetheless, the surgical success rate is high and the major complication rate is low; similar to studies of unselected series of CI recipients.

Cited by 19 publications

References 15 publications

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

Meta‐analysis of subjective complaints of vertigo and vestibular tests after cochlear implantation

Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations

Contact Info

Product

Resources

About