Bilateral Sequential Cochlear Implantation in Patients With Enlarged Vestibular Aqueduct (EVA) Syndrome

Manzoor, Nauman F.; Wick, Cameron C.; Wahba, Marian; Gupta, Amit; Piper, Robin; Murray, Gail S.; Otteson, Todd D.; Megerian, Cliff A.; Semaan, Maroun T.

doi:10.1097/mao.0000000000000925

Cited by 25 publications

(22 citation statements)

References 16 publications

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“…A great diversity of clinical manifestations, in particular audiometric characteristics of hearing loss and vestibular symptoms, typically reported among patients with EVA [ 28 , 29 , 30 ], was confirmed in our cohort of 19 patients from Austria, including one patient with agenesis of the vestibular aqueduct on both sides ( Table 1 , Tables S1 and S2 ). An intraoperative gusher phenomenon of cerebro-spinal fluid during cochlea implant surgery was observed in 7 of 23 operated ears (30.4%) ( Table S1 ), an incidence that is relatively high compared to other groups [ 31 , 32 ]. However, the condition was manageable in all cases by accurate sealing during surgery without any postoperative leakage observed.…”

Section: Discussionmentioning

confidence: 99%

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Roesch

Bernardinelli

Nofziger³

et al. 2018

IJMS

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Abstract:The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4 and GJB2, coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. In this group, four uncharacterized sequence alterations within the SLC26A4 coding region were found. Three of these lead to protein variants with abnormal functional and molecular features, while one should be considered with no pathogenic potential. Pathogenic SLC26A4 sequence alterations were only found in 12% of patients. SLC26A4 sequence alterations commonly found in other Caucasian populations were not detected. This survey represents the first study on the prevalence and spectrum of SLC26A4 sequence alterations in an Austrian cohort and further suggests that genetic testing should always be integrated with functional characterization and determination of the molecular features of protein variants in order to unequivocally identify or exclude a causal link between genotype and phenotype.

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Section: Discussionmentioning

confidence: 99%

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Roesch

Bernardinelli

Nofziger³

et al. 2018

IJMS

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“…Moreover, there has been some concern over the use of sequential cochlear implantation in LVAS patients with incomplete partition malformations. Manzoor et al (2016) found that sequential cochlear implantation can be performed safely with patients with LVAS and incomplete partition malformations and that these children do as well as their peers without these anomalies. Moreover, the recommendation to implant a child with LVAS is also mediated by cochlear implant candidacy.…”

Section: Confidence In Knowledge Of and Skills For Serving Patients Wmentioning

confidence: 88%

Large Vestibular Aqueduct Syndrome: Parents’ and Audiologists’ Perspectives

Sullivan¹,

Johnson²,

Danhauer

et al. 2019

J Am Acad Audiol

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Large vestibular aqueduct syndrome (LVAS) is an auditory disorder that is difficult to diagnose and manage; it is confirmed when the vestibular aqueduct is >1.5 mm in diameter. Diagnosis of LVAS in children can devastate parents and challenge healthcare professionals who serve these patients and their families.This study surveyed parents of children with LVAS about their knowledge of and experiences with LVAS and their attitudes about the support provided to them by healthcare professionals. This study also surveyed audiologists about their knowledge of and experiences with LVAS and their level of confidence in serving families with children having this disorder.Cross-sectional survey.100 parents, mostly mothers, and 144 audiologists responded to invitations to participate in surveys designed to elicit information about their knowledge of, experiences with, and attitudes toward LVAS.Invitations via links to participate in a survey on surveymonkey.com were posted in LVAS support group pages on Facebook.com for parents and sent to audiologists randomly selected from the American Academy of Audiology Membership Directory. Descriptive statistics were used to analyze trends in parents’ and audiologists’ responses.A response rate could not be obtained for the parents’ survey because it was impossible to know how many parents actually viewed the invitation to participate via Facebook.com. The response rate for the audiologists’ survey was 10%. Most of the parents reported that their children had clinical trajectories similar to those of cases reported in the literature, and said they needed more information from their healthcare providers, especially pediatricians and primary care physicians. Most of the audiologists felt confident in their knowledge of and/or skills in aiding in the diagnosis and/or treatment of LVAS, except for issues surrounding cochlear implants. Audiologists were interested in obtaining continuing education about LVAS from multiple sources.Parents of children having LVAS need greater support from their healthcare providers, who in turn need additional information on the topic and should collaborate for supportive and appropriate interprofessional care.

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“…A VA diameter greater than or equal to 1.5 mm in the median point or greater than or equal to 2 mm for the operculum was defined as an EVA.A central point of 1.0–1.4 mm and 1.5 to 1.9 mm operculum were considered as borderline EVA.Less than 1.0 mm for the median point and 1.5 mm for the operculum were reported as normal VA [38, 49–51]. …”

Section: Methodsmentioning

confidence: 99%

“…Less than 1.0 mm for the median point and 1.5 mm for the operculum were reported as normal VA [38, 49–51]. …”

Section: Methodsmentioning

confidence: 99%

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Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded)

Bianchin¹,

Polizzi²,

Formigoni³

et al. 2016

International Journal of Otolaryngology

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Objective. To share our experience of cerebrospinal fluid gusher in cochlear implantation in patients with enlarged cochlear or vestibular aqueduct. Study Design. Case series with comparison and a review of the literature. Methods. A retrospective study was performed. Demographic and radiological results of patients with enlarged cochlear aqueduct or enlarged vestibular aqueduct in 278 consecutive cochlear implant recipients, including children and adults, were evaluated between January 2000 and December 2015. Results. Six patients with enlarged cochlear aqueduct and eight patients with enlarged vestibular aqueduct were identified. Cerebrospinal fluid gusher occurs in five subjects with enlarged cochlear aqueduct and in only one case of enlarged vestibular aqueduct. Conclusion. Based on these findings, enlarged cochlear aqueduct may be the best risk predictor of cerebrospinal fluid gusher at cochleostomy during cochlear implant surgery despite enlarged vestibular aqueduct.

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Bilateral Sequential Cochlear Implantation in Patients With Enlarged Vestibular Aqueduct (EVA) Syndrome

Cited by 25 publications

References 16 publications

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Large Vestibular Aqueduct Syndrome: Parents’ and Audiologists’ Perspectives

Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded)

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