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Objective: This study aimed to determine whether surface-based morphometry of preoperative whole-brain three-dimensional T1-weighted magnetic resonance imaging (MRI) images can predict the clinical outcomes of cochlear implantation., Study Design: This was an observational, multicenter study using preoperative MRI data., Setting: The study was conducted at tertiary care referral centers., Patients: Sixty-four patients with severe to profound hearing loss (≥70 dB bilaterally), who were scheduled for cochlear implant (CI) surgery, were enrolled. The patients included 19 with congenital hearing loss and 45 with acquired hearing loss., Interventions: Participants underwent CI surgery. Before surgery, high-resolution three-dimensional T1-weighted brain MRI was performed, and the images were analyzed using FreeSurfer., Main Outcome Measures: The primary outcome was monosyllable audibility under quiet conditions 6 months after surgery. Cortical thickness residuals within 34 regions of interest (ROIs) as per the Desikan-Killiany cortical atlas were calculated based on age and healthy-hearing control regression lines., Results: Rank logistic regression analysis detected significant associations between CI effectiveness and five right hemisphere ROIs and five left hemisphere ROIs. Predictive modeling using the cortical thickness of the right entorhinal cortex and left medial orbitofrontal cortex revealed a significant correlation with speech discrimination ability. This correlation was higher in patients with acquired hearing loss than in those with congenital hearing loss., Conclusions: Preoperative surface-based morphometry could potentially predict CI outcomes and assist in patient selection and clinical decision making. However, further research with larger, more diverse samples is necessary to confirm these findings and determine their generalizability., Competing Interests: All authors declare that they have no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2023, Otology & Neurotology, Inc.)

Objective: Hearing loss caused by GJB2 mutations is inherited in an autosomal recessive manner (DFNB1); thus siblings of an affected child have a 25% chance of also being affected. Hearing loss among subsequent siblings carrying the same GJB2 mutation is a concern for parents and a frequent topic of enquiry during genetic counseling. Evidence exists for genotype-phenotype correlations of GJB2 mutations; however, no analysis of differences in hearing among siblings, in whom the common genetic background may decrease variation, has been reported. The purpose of the present study was to investigate hearing differences between siblings with identical GJB2 mutations., Methods: We examined the hearing levels of 12 pairs of siblings; each pair had the same pathogenic GJB2 mutations. Differences in hearing acuity between sibling pairs detected by auditory evaluation., Results: No significant correlation was detected between the average hearing levels of first and second affected siblings. Average differences in acoustic threshold >30 dB were observed between four pairs of siblings, whereas the remaining eight pairs had average threshold values within 20 dB of one another., Conclusion: Our results indicate that auditory acuity would be expected to approximate that found in the first child in approximately 70% of subsequent children with GJB2-mediated hearing loss, whereas 30% of subsequent siblings would have average differences of >30 dB., Competing Interests: Declaration of Competing Interest The authors declare that they have no competing interests., (Copyright © 2020. Published by Elsevier B.V.)

Background: The electrically evoked auditory brainstem response (eABR) during cochlear implantation in common cavity (CC) deformity has not been clinically well studied. Aim/Objective: To investigate the eABR wave configuration during cochlear implantation, the postoperative development of hearing, and educational settings in infants with CC deformity. Materials and Methods: Nine infants who were congenitally deaf and found to have CC deformity and suspected cochlear nerve deficiency by temporal bone CT and MRI were studied. All of them underwent sequential and unilateral cochlear implantation and their eABRs were recorded during the surgery. The postoperative development was followed up. Results: eABRs of all the nine infants with CC deformity showed that the mean peak of the evoked wave V (eV) was the same as that in controls at latencies but was twofold higher than that in controls at thresholds and their postoperative hearing thresholds improved markedly. Conclusion and Significance: The brainstem auditory pathways of the infants were considered intact on the basis of the eV peak latencies in the eABRs. The postoperative development of their speech and hearing abilities and their educational settings varied, probably because of the twofold higher thresholds of their eABRs and limited number of auditory neural units.

Objective: To report on the safety and efficacy of an investigational active middle ear implant (AMEI) in Japan, and to compare results to preoperative results with a hearing aid., Design: Prospective study conducted in Japan in which 23 Japanese-speaking adults suffering from conductive or mixed hearing loss received a VIBRANT SOUNDBRIDGE with implantation at the round window. Postoperative thresholds, speech perception results (word recognition scores, speech reception thresholds, signal-to-noise ratio [SNR]), and quality of life questionnaires at 20 weeks were compared with preoperative results with all patients receiving the same, best available hearing aid (HA)., Results: Statistically significant improvements in postoperative AMEI-aided thresholds (1, 2, 4, and 8 kHz) and on the speech reception thresholds and word recognition scores tests, compared with preoperative HA-aided results, were observed. On the SNR, the subjects' mean values showed statistically significant improvement, with -5.7 dB SNR for the AMEI-aided mean and -2.1 dB SNR for the preoperative HA-assisted mean. The APHAB quality of life questionnaire also showed statistically significant improvement with the AMEI., Conclusion: Results with the AMEI applied to the round window exceeded those of the best available hearing aid in speech perception as well as quality of life questionnaires. There were minimal adverse events or changes to patients' residual hearing.

Conclusions: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare cases of bilateral total deafness, cochlear implants were beneficial for speech perception. Vaccination against mumps is recommended to prevent mumps-associated hearing loss., Objective: The objective of this study is to investigate the clinical characteristics of hearing loss due to mumps and to evaluate hearing outcomes., Subjects and Methods: The clinical parameters were analyzed under a retrospective multi-institutional study design in patients diagnosed with hearing loss due to mumps at the Otolaryngology departments of 19 hospitals between 1987 and 2016., Results: Sixty-seven patients with hearing loss due to mumps were enrolled. The study population consisted of 35 males and 32 females, ranging in age from 1 to 54, with a median age of 9.5 years. Sixty-three patients presented with unilateral, and 4 with bilateral hearing loss. Profound hearing loss was observed in 65 ears. Only one ear with severe hearing loss showed complete recovery. Four patients with bilateral hearing loss received cochlear implant surgery. Most of the patients with hearing loss due to mumps had no history of vaccination.

Background: Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics., Methods: After excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected according to the following criteria: 1) Sporadic or recessively inherited hearing loss 2) bilateral non-syndromic congenital hearing loss, 3) no cochlear malformation, 4) a poorer hearing level at high frequencies than at low frequencies, and 5) severe or profound hearing loss at higher frequencies., Results: Seventy-two subjects were selected from 621 consecutive probands who did not have environmental causes for their hearing loss. After direct sequencing, 13 of the 72 probands (18.1%) had homozygous or compound heterozygous CDH23 mutations. In total, we identified 16 CDH23 mutations, including five novel mutations. The 16 mutations included 12 missense, two frameshift, and two splice-site mutations., Conclusions: These results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss and that the mutation spectrum was diverse, indicating that patients with these clinical features merit genetic analysis.

Objectives/hypothesis: To investigate possible association of hearing loss and SLC26A4 mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in Japanese subjects with hearing loss., Study Design: Retrospective multicenter study., Methods: Forty-seven subjects who had vestibular aqueduct with midpoint diameter >1 mm by computed tomography of the temporal bone were enrolled at multiple sites across Japan, and DNA samples and clinical data were collected. EVA morphology was classified into four subgroups by the pattern of enlargement: aperture, aperture and midpoint, midpoint, and borderline enlargement. Venous blood DNA samples were subjected to polymerase chain reaction-based direct sequencing of all exons and exon-intron boundaries of the SLC26A4., Results: Four novel SLC26A4 mutations were identified in the present study. SLC26A4 mutations were detected in almost all subjects with aperture, aperture and midpoint, and midpoint enlargement. In contrast, 71% of subjects with borderline enlargement had no SLC26A4 mutation. No significant difference was found in the distribution of truncating and nontruncating SLC26A4 mutations between the EVA subgroups. In addition, no significant correlation was observed between the EVA subgroups and hearing levels, incidence of hearing fluctuation, or progression of hearing loss., Conclusions: Subgroups of EVA morphology were significantly correlated with the presence or absence of SLC26A4 mutation. In a subgroup analysis of subjects with SLC26A4 mutations, however, differences in the EVA subgroups were not correlated with SLC26A4 genotypes or characteristics of hearing loss., Level of Evidence: NA., (© 2013 The American Laryngological, Rhinological and Otological Society, Inc.)

The hearing loss caused by GJB2 mutations is usually congenital in onset, moderate to profound in degree, and non-progressive. The objective of this study was to study genotype/phenotype correlations and to document 14 children with biallelic GJB2 mutations who passed newborn hearing screening (NHS). Genetic testing for GJB2 mutations by direct sequencing was performed on 924 individuals (810 families) with hearing loss, and 204 patients (175 families) were found to carry biallelic GJB2 mutations. NHS results were obtained through medical records. A total of 18 pathological mutations were identified, which were subclassified as eight inactivating and 10 non-inactivating mutations. p.I128M and p.H73Y were identified as novel missense GJB2 mutations. Of the 14 children with biallelic GJB2 mutations who passed NHS, eight were compound heterozygotes and 3 were homozygous for the c.235delC mutation in GJB2, and the other three combinations of non-c.235delC mutations identified were p.Y136X-p.G45E/p.V37I heterozygous, c.512ins4/p.R143W heterozygous, and p.V37I/p.R143W heterozygous. These 14 cases demonstrate that the current NHS does not identify all infants with biallelic GJB2 mutations. They suggest that the frequency of non-penetrance at birth is approximately 6.9% or higher in DFNB1 patients and provide further evidence that GJB2 hearing loss may not always be congenital in onset., (© 2013 Elsevier B.V. All rights reserved.)

Background: Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sanger sequencing is extremely expensive and time-consuming. Next-generation sequencing (NGS) technology is advantageous for genetic diagnosis of heterogeneous diseases that involve numerous causative genes., Methods: Genomic DNA samples from 58 subjects with hearing loss from 15 unrelated Japanese families were subjected to NGS to identify the genetic causes of hearing loss. Subjects did not have pathogenic GJB2 mutations (the gene most often associated with inherited hearing loss), mitochondrial m.1555A>G or 3243A>G mutations, enlarged vestibular aqueduct, or auditory neuropathy. Clinical features of subjects were obtained from medical records. Genomic DNA was subjected to a custom-designed SureSelect Target Enrichment System to capture coding exons and proximal flanking intronic sequences of 84 genes responsible for nonsyndromic or syndromic hearing loss, and DNA was sequenced by Illumina GAIIx (paired-end read). The sequences were mapped and quality-checked using the programs BWA, Novoalign, Picard, and GATK, and analyzed by Avadis NGS., Results: Candidate genes were identified in 7 of the 15 families. These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients. Mutations in Usher syndrome-related genes were detected in three families, including one double heterozygous mutation of CDH23 and PCDH15., Conclusion: Targeted NGS analysis revealed a diverse spectrum of rare deafness genes in Japanese subjects and underscores implications for efficient genetic testing.

Conclusions: Patients treated by mastoidectomy in the past often present with hearing loss and cavity problems such as pus discharge. Total middle ear reconstruction (TMER) improves the hearing of these patients by correcting cavity problems and resolution of ear discharge, which facilitates ossicular chain reconstruction such as type III or type IV tympanoplasty., Objective: To evaluate the effectiveness of TMER in improving hearing., Patients and Methods: We reviewed the audiograms of 56 ears of 48 patients who underwent TMER in combination with either type III or type IV tympanoplasty. Audiometric pure tone thresholds averaged over three frequencies (500, 1000, and 2000, pure tone average) were measured and compared before and after surgery. Successful outcome was defined as improvement of 15 dB or more. The mean follow-up was 5.7 years (range 1.1-12.6). We also analyzed the relations between hearing improvement and factors such as type of tympanoplasty (types III and IV), choice between one-stage and two-stage operation, and the interval between original mastoidectomy and final operation., Results: The mean hearing gain was 13.6 (+/-11.9) dB. Twenty-seven procedures (48.2%) were considered successful, with improvement of 15 dB or more. The results of type III tympanoplasty group were significantly superior to those of type IV (p<0.05, Student's t test). One- and two-stage surgery did not significantly influence outcome. The interval between the initial operation correlated weakly and negatively (r = - 0.266, p<0.05) with hearing gain.

Conclusions: Our results suggest that the sacculi of most children with cochlear implants can easily be damaged, as shown by the absence of vestibular-evoked myogenic potentials (VEMPs) in response to click stimuli. Also, in most of the children, the vestibular nerve was seemingly not stimulated by the cochlear implant. These results suggest that electrical stimulation at the C level can stimulate the cochlear nerve; however, this stimulation did not spread to the vestibular nerve in our children. In some children with Mondini dysplasia or vestibulocochlear nerve abnormality, the vestibular nerve was stimulated when the cochlear implant device was on, because of a VEMP response to electrical stimulation., Objective: To clarify the diagnostic value of VEMPs in cochlear implant patients., Material and Methods: The click-evoked myogenic potentials of 12 children who underwent cochlear implantation surgery were investigated. The latency and amplitude of the VEMP responses were measured., Results: Before surgery, 6 of the 12 children showed normal VEMPs, 1 showed a decrease in the amplitude of VEMPs and five showed no VEMP response. After surgery, with the cochlear implant device off, 1 child showed a decreased VEMP and 11 showed no VEMPs. With the cochlear implant device on, four children showed VEMPs and eight did not.

Fibrocytes of the spiral limbus are thought to play a significant role in maintaining ion homeostasis in the cochlea. The present study measured physiological and morphological changes in spiral limbus of mice in response to noise exposure. 6-week-old male C3H/HeJJcl mice were exposed to octave-band noise (120 dB SPL) for 2 h and evaluated at a series of times thereafter, up to 8 weeks. Permanent hearing loss resulted in the mice, as assessed by auditory brainstem response (ABR) recordings. The fibrocytes loss was found in the spiral limbus of the apical turn, which has been proved to be induced by apoptosis. These results suggest that noise exposure might result in apoptosis of fibrocytes in spiral limbus, which suggest a mechanism for noise-induced hearing loss. [ABSTRACT FROM AUTHOR]

We report a case in which metastasis occurred from a left-side maxillary carcinoma to bilateral temporal bones through different routes, manifested by rapidly progressing left-side mixed hearing loss, left-side vestibular dysfunction, and serous otitis media. Later the left-side hearing threshold became severely elevated, suggesting profound sensory hearing loss. Histopathology of the temporal bones revealed that the side with the lesion was severely damaged by tumor through direct and hematogenous metastasis. On the contralateral side, it showed four findings: (i) sparse and separate tumor invasion of the petrous bone, the mastoid cavity, and the facial canal (hematogenous spread); (ii) tumor involvement in the lower part of the cochlear aqueduct without invasion of the internal acoustic canal or cochlea, implying early meningeal carcinomatosis; (iii) vascular stria atrophy, spiral ganglion diminution, and well preserved hair cells; and (iv) diffuse effusion in the middle ear and mastoid cavity. Our observations revealed that tumor cells dispersed to the same side through different routes, whereas early metastasis to the contralateral side was mainly through hematogenous and subarachnoid spread. [ABSTRACT FROM AUTHOR]

Conclusions. The vestibular function can be assessed by ice-water caloric test, rotational chair test and VEMP recording in severely hearing impaired infants and young children, and 85% of these patients showed abnormal responses in these tests. Objectives. To evaluate the vestibular function of infants and young children with congenital and acquired deafness, we examined the semicircular canal and otolith function in their early childhood. Materials and methods. Our subjects were 20 children (11 boys, 9 girls; age range 31-97 months, mean age 54.2 months) with severe hearing impairment. Their vestibular functions were assessed by the ice-water caloric test, rotational chair test and vestibular-evoked myogenic potential (VEMP) recording. Results. Among these 20 severely hearing impaired children, only 3 (15%) showed normal responses in the caloric test, rotational chair test and VEMP recording bilaterally. Seven (35%) showed responses asymmetrically in the caloric test despite normal responses in the rotational chair test and VEMP recording bilaterally. Five (25%) showed hyporeflexia or areflexia in the caloric test bilaterally, but showed normal responses in the rotational chair test and normal reproducible or decreased VEMPs. Five (25%) showed no responses at all in the caloric test, rotational chair test and VEMP recording. [ABSTRACT FROM AUTHOR]

Summary: The location of lesions causing hearing loss in patients with cerebral palsy due to asphyxia or neonatal hyperbilirubinemia has remained unclear. We performed behavioral audiometry, distortion product otoacoustic emission (DPOAE) and auditory brainstem evoked response (ABR) in six patients with cerebral palsy due to asphyxia or neonatal hyperbilirubinemia in order to determine the lesion location causing their hearing impairment. In all cases, behavioral audiometry revealed a threshold elevation of 50–75dB and ABR were no response. DPOAE were totally absent in five patients and normal in one patient. Our study suggests that lesions causing hearing loss potentially include the organ of Corti especially at the outer hair cells and the cochlear nerve. [Copyright &y& Elsevier]

Hearing loss and equilibrium dysfunction have different etiologies in patients with large vestibular aqueduct syndrome. We suggest that all children with distal renal tubular acidosis (dRTA) should be subjected to an equilibrium study and audiological evaluation, as well as to a CT or MRI scan. dRTA has been described in association with sensorineural hearing loss, but there are no reported cases that have been examined in detail using audiological and equilibrium studies. We report here a case of progressive sensorineural hearing loss with a large vestibular aqueduct and dRTA, and the results of audiological and equilibrium studies. A 31-year-old female presented with hearing loss, tinnitus and vertigo. She had been treated with oral sodium citrate, potassium citrate and potassium chloride supplementation because of dRTA since the age of 1 month. The pure-tone audiogram of the patient was off the scale for the right ear and showed progressive sensorineural hearing loss for the left ear. Ice-water caloric testing showed canal paresis on the left side. Temporal bone CT and inner ear MRI revealed a large vestibular aqueduct and a large endolymphatic sac on both sides. [ABSTRACT FROM AUTHOR]

The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The inner canthal, interpupillary, and outer canthal distances (ICD , IPD , and OCD) were measured for all patients, and patients were screened for presence of PAX3 , MITF , SOX10 , and EDNRB mutations. The WS patients were clinically classified under the current W index as follows: 13 families with WS1, 2 families with WS2, and 1 family with WS4. In the 13 WS1 families, genetic tests found PAX3 mutations in 5 families, MITF mutations in 4 families, SOX10 mutations in 3 families, and EDNRB mutations in 1 family. 61% of clinically classified WS1 patients under the current W index conflicted with the genetic classification, which implies W index is not appropriate for Japanese population. Resetting the threshold of W index or novel index formulated with ethnicity matched samples is necessary for clinical classification which is consistent with genetic classification for WS patients with distinct ethnicity. • Clinically classified WS1 under the current W index conflicted with the genetic classification in Japanese • The current W index of 1.95 might not be appropriate for Japanese population • We proposed Wj index and a different threshold of the W index as tentative solutions [ABSTRACT FROM AUTHOR]

Abstract: Objectives: Cervical vestibular evoked myogenic potentials (cVEMPs) have been found to be useful for clinical testing of vestibular function. Recently, investigators showed that short-latency, initially negative surface EMG potentials can be recorded around the extraocular muscles (oVEMPs) in response to air-conducted sound (ACS), bone-conducted vibration (BCV), and head taps. Although these evoked potentials, which are located around the eyes, most likely originate primarily from the otolith-ocular pathway, the possibility of contamination by other nerve activities cannot be completely eliminated. The purpose of the present study was to clarify the origin of oVEMPs by examining these possibilities using clinical findings. Methods: Twelve healthy subjects and 15 patients were enrolled. Of the 15 patients, 3 patients had undergone exenteration of the unilateral intraorbital contents, one had undergone exenteration of the right eyeball with preservation of extraocular muscles, 5 had facial palsy, and 6 had profound hearing loss. ACS and/or BCV were used in these subjects. Results: Exenteration of the unilateral intraorbital contents resulted in absence of myogenic potentials on the affected side. On the other hand, exenteration of the eyeball with preservation of extraocular muscles did not have a major impact on the responses. There were no significant differences in the waveforms between healthy subjects and patients with facial palsy or profound hearing loss. Conclusions: The results suggested that short-latency, initially negative evoked potentials recorded below the eyes are not affected by cochlear or facial nerve activities and are dependent on the presence of extraocular muscles. Significance: This study provides the evidence that oVEMPs originate from exraocular muscles activated through the vestibulo-ocular pathway. [Copyright &y& Elsevier]