Background The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance... Show moreBackground The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. Methods This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score <= 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. Results The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of <= 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. Conclusion Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis. Show less
Congenital cytomegalovirus (cCMV) infection can cause fluctuating hearing loss and vestibulopathy. The pathogenesis is unknown. This report describes a 13-year old boy with cCMV and severe hearing... Show moreCongenital cytomegalovirus (cCMV) infection can cause fluctuating hearing loss and vestibulopathy. The pathogenesis is unknown. This report describes a 13-year old boy with cCMV and severe hearing loss in the right ear since age 3, presenting with fluctuating hearing loss in the left ear and vestibular symptoms. 3D fluid attenuated inversion recovery (FLAIR) MRI showed endolymphatic hydrops in the acutely affected ear. This is the first description of a child with cCMV subjected to this imaging technique, raising the question whether endolymphatic hydrops could play a role in the development of late-onset symptoms and demonstrating the possibilities of this MRI sequence. Show less
Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema,... Show morePreviously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X-linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. The audiograms showed mild to moderate SNHL with a variable pattern of the affected frequencies. Immunohistochemical analysis of fetal cochlea was performed confirming the expression of AMMECR1 in the human inner ear. Since hearing loss, cleft palate and congenital hip dysplasia were reported before in male AMMECR1 point mutation carriers and AMMECR1 is expressed in fetal inner ear, we suggest that female carriers may display a partial phenotype in this X-linked condition. Show less
Objective: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). Study design: Multicenter retrospective cohort study. Setting:... Show moreObjective: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). Study design: Multicenter retrospective cohort study. Setting: Three tertiary otology and audiology referral centers. Patients and diagnostic interventions: A total of 34 children with a unilateral enlarged vestibular aqueduct as identified on CT and/or MR imaging were evaluated with pure tone and speech perception audiometry. Mean outcome measures: Radiologic measurements of the vestibular aqueduct, ipsi- and contralateral hearing loss, ipsi- and contralateral hearing loss progression over time and DNA test results. Results: All patients in this cohort with unilateral EVA presented with hearing loss. Hearing loss was progressive in 38% of the ipsilateral ears. In 29% of the children, hearing loss was also found in the contralateral ear without EVA. In 90%, the contralateral hearing was stable, with a mean follow up of 4.2 years. We found a significant correlation between the severity of the hearing loss and the size of the EVA. A genetic diagnosis associated with EVA and/or SNHL was found in only 7%. Conclusion: About a third of the children with unilateral EVA are at risk of developing hearing loss in the contralateral ear. This indicates that at least in some patients with a unilateral EVA, a bilateral pathogenic process underlies the hearing loss, in contrary to what the imaging results suggest. These findings are important for counseling of EVA patients and their parents and have implications for follow up. Show less
IMPORTANCE Imaging used to determine the cause of unilateral sensorineural hearing loss(USNHL) in children is often justified by the high likelihood of detecting abnormalities, whichimplies that... Show moreIMPORTANCE Imaging used to determine the cause of unilateral sensorineural hearing loss(USNHL) in children is often justified by the high likelihood of detecting abnormalities, whichimplies that these abnormalities are associated with hearing loss and that imaging has apositive contribution to patient outcome or well-being by providing information on theprognosis, hereditary factors, or cause of hearing loss.OBJECTIVES To evaluate the diagnostic yield of computed tomography (CT) and magneticresonance imaging (MRI) in children with isolated unexplained USNHL and investigate theclinical relevance of these findings.EVIDENCE REVIEW Cochrane Library, Embase, PubMed, andWeb of Science databases weresearched for articles published from 1978 to 2017 on studies of children with USNHL whounderwent CT and/or MRI of the temporal bone. Two authors (F.G.R. and E.N.B.P.)independently extracted information on population characteristics, imaging modality, andthe prevalence of abnormalities and assessed the studies for risk of bias. Eligibility criteriaincluded studies with 20 or more patients with USNHL who had CT and/or MRI scans,a population younger than 18 years, and those published in English.MAIN OUTCOMES AND MEASURES The pooled prevalence with 95%CI of inner earabnormalities grouped according to finding and imaging modality.FINDINGS Of 1562 studies, 18 were included with a total of 1504 participants included inthe analysis. Fifteen studies were consecutive case studies and 3 were retrospective cohortstudies. The pooled diagnostic yield for pathophysiologic relevant findings in patientswith unexplained USNHL was 37%for CT (95%CI, 25%-48%) and 35%for MRI (95%CI,22%-49%). Cochleovestibular abnormalities were found with a pooled frequency of 19%for CT (95%CI, 14%-25%) and 16%for MRI (95%CI, 7%-25%). Cochlear nerve deficiencyand associated cochlear aperture stenosis had a pooled frequency of 16%for MRI (95%CI,3%-29%) and 44%for CT (95%CI, 36%-53%), respectively. Enlarged vestibular aqueduct(EVA) was detected with a pooled frequency of 7%for CT and 12%for MRI in childrenwith USNHL.CONCLUSIONS AND RELEVANCE Imaging provided insight into the cause of hearing lossin a pooled frequency of about 35%to 37%in children with isolated unexplained USNHL.However, none of these findings had therapeutic consequences, and imaging providedinformation on prognosis and hereditary factors only in a small proportion of children,namely those with EVA. Thus, there is currently no convincing evidence supporting a strongrecommendation for imaging in children who present with USNHL. The advantages ofimaging should be carefully balanced against the drawbacks during shared decision making. Show less
