The vestibular aqueduct (VA) is a bony channel that houses the endolymphatic duct, linking the inner ear to the endolymphatic sac located in the posterior cranial fossa. The VA plays a crucial role in the metabolism and pressure buffer of the inner ear, and its enlargement can result in hearing impairment and balance disorders. The human VA often shows anatomical variations and even imaging can be difficult to appreciate, so clinicians need more data on the normal anatomy of VA for better understanding of radiological evaluation of enlarged VA. Enlarged vestibular adequate syndrome (EVAS) is reported to be one of the commonest anomalies of the inner ear associated with sensorineural hearing loss, although the exact mechanism of such loss is unclear. The EVAS can cause progressive sensorineural hearing loss (SNHL), in addition to sudden SNHL, conductive hearing loss, and mixed hearing loss. Mutations in a gene called SLC26A4 (formerly known as the PDS gene) are the primary cause of EVA and hearing loss. EVAS can be isolated or associated with cochlear malformation such as incomplete partition. There are no established criteria for diagnosis of EVAS. With advancement in imaging techniques, this VA and its anomalies are gaining greater interest among clinicians in recent years. High resolution computed tomography (HRCT) of temporal bone or MRI are helpful for the diagnosis of EVAS, with comparison to the adjacent posterior semicircular canal.

To investigate the associations between acoustically evoked short latency negative response (ASNR) and vestibular function in patients with large vestibular aqueduct syndrome (LVAS) before and after cochlear implantation (CI). Retrospective study. Tertiary medical center. The records of 64 patients (32 with bilateral LVAS and 32 with no inner ear malformations [IEMs]) who underwent unilateral CI were reviewed. Among them, the auditory brainstem response of 17 LVAS patients who presented with bilateral ASNRs was reassessed after CI, with a mean follow-up period of 4.18 ± 2.43 years. The ASNR could be detected more from LVAS ears than from ears without IEMs (67.18% vs 12.5%, P < .001). Compared with the LVAS ears without ASNR, the ears with an ASNR presented better vestibular function, with a lower abnormal rate in the caloric test and vestibular evoked myogenic potentials (VEMPs), before CI. After CI, the LVAS patients showed a significant increase in the abnormal rate of the caloric test (29.41% pre-CI to 70.59% post-CI, P = .038). Notably, patients with a preserved ASNR maintained normal cervical VEMP (cVEMP) responses (100%), whereas those with no robust ASNR had a higher rate of abnormal cVEMP (77.78%, P = .002). The presence of an ASNR in LVAS patients correlates with better vestibular function preservation both before and after CI. The function of otoliths in patients with LVAS is not significantly affected by CI. The ASNR may serve as a valuable noninvasive predictor of vestibular outcomes in LVAS patients.

Abstract Background Enlarged Vestibular Aqueduct (EVA) presents diagnostic challenges owing to varied clinical manifestations and significant variation in hearing loss (HL) progression, which makes it difficult for clinicians to provide timely advice on HL surveillance, surgical interventions, and lifestyle modifications. EVA is often identified incidentally after head trauma or through unrelated symptoms. Aim This case report details an uncommon presentation of EVA in an adolescent, drawing attention to its diverse clinical expression and stressing the need for reliable prognostic tools to guide clinical decision-making and patient support. An adolescent with atypical EVA highlights clinical variability and emphasizes the importance of developing prognostic criteria for better management and counseling. Case presentation A 17-year-old male patient was seen in the Hearing and Balance Clinic at Dubai Hospital in August 2024 with a chief complaint of a constant left ear tinnitus of a few months’ duration. The patient was asymptomatic and did not present with any vestibular symptoms (such as dizziness or vertigo) or systemic comorbidities. On initial examination and audiological assessment, Pure-tone audiometry (PTA) revealed normal right ear thresholds up to 4 kHz, with moderate, sloping sensorineural hearing loss (SNHL) at higher frequencies. The left ear had normal thresholds up to 1 kHz, with moderate to severe SNHL at higher frequencies. Bilateral Type A tympanograms with asymmetrical acoustic reflexes matched the PTA findings. Subsequent evaluations showed stable right ear thresholds but progressive moderate to severe SNHL in the left ear, possibly linked to noise exposure during national service. Despite a 15-day tapered corticosteroid regimen, a limited improvement was noted at low frequencies during follow-up. MRI and CT scans showed significant dilatation of the left vestibular aqueduct and enlargement of the endolymphatic sac. This case suggests that noise exposure may act as an aggravating factor in EVA-associated asymmetric SNHL. Conclusion This case report illustrates an atypical presentation of EVA, which was incidentally discovered and suggested as a potential cause of progressive SNHL. EVA should be included in the differential diagnoses of unilateral SNHL. EVA's clinical variability supports its consideration as a spectrum disorder, emphasizing the need for standardized prognostic criteria to predict the progression course of hearing loss, improve management, and counseling.

Enlarged vestibular aqueduct (EVA), the most prevalent inner ear malformation causing hearing loss (HL) in various populations, is predominantly genetically mediated. Despite advancements in genetic diagnostics, the comprehensive phenotypic and genotypic spectrum of EVA remains insufficiently characterized. To characterize the natural history, clinical outcomes, phenotype, and genotype of EVA. This single-center, longitudinal, retrospective cohort study was conducted from March 2003 to October 2022, with follow-up until July 1, 2024. Patients with EVA who were seeking medical advice at the Chinese PLA General Hospital were included. This study presents a 21-year longitudinal analysis of Chinese patients with EVA, providing a systematic analysis of the natural history, phenotypic diversity, and molecular etiology of EVA. Of 2774 patients, 1453 (52.4%) were female individuals, and the median (range) age was 8 (4 months to 45 years) years. This study identified that 124 of 341 patients (36.36%) with EVA received passing newborn hearing screening results, while 375 of 597 (62.8%) received a diagnosis through combined audiological and radiological assessments. Recurrent vertigo (256 of 597 [42.9%]) and goiter (38 of 597 [6.4%]) were common comorbidities. Genetic analysis revealed that 2661 of 2774 patients (95.9%) carried biallelic SLC26A4 variants, with 70 (2.5%) attributable to copy number variants and 13 (0.5%) to a deep-intronic variant (c.304 + 941C>T) that affected splicing. A de novo heterozygous FOXI1 variant (c.483_485delCAA) was identified in an EVA family, indicating an autosomal dominant inheritance pattern. A stepped genomic analysis strategy was associated with an improved molecular diagnosis rate of 95.9%, highlighting the necessity of comprehensive genetic testing beyond traditional coding regions. The results of this cohort study underscore the importance of periodic hearing surveillance and tailored genetic counseling for patients with EVA, offering substantial implications for prevention, management, and future gene therapy approaches. This study provides an extensive phenotypic and genotypic characterization of EVA, potentially advancing an understanding of its molecular underpinnings and clinical heterogeneity.

PurposeThis study aimed to compare short-term language outcomes following hearing aid rehabilitation in pediatric patients with severe bilateral hearing loss (70–90 dB), with a particular focus on differences according to etiology. We hypothesized that children with enlarged vestibular aqueduct (EVA) exhibit more favorable speech development compared to those with other genetic or structural causes of hearing loss, and explored the potential presence of a “hidden” air-bone gap associated with EVA.MethodsWe retrospectively reviewed 36 children under five years of age diagnosed with bilateral severe sensorineural hearing loss and ascertained before age two at Seoul National University Bundang Hospital. Patients were classified into EVA (n = 16) and non-EVA (n = 20) groups based on radiologic and genetic data. All participants underwent one year of bilateral hearing aid rehabilitation. Speech and language outcomes were assessed using the Categories of Auditory Perception (CAP), Sequenced Language Scale for Infants (SELSI), and Receptive and Expressive Vocabulary Test (REVT), and were compared pre- and post-treatment.ResultsBoth groups showed improved CAP scores after one year. However, the EVA group exhibited significantly better expressive language percentile scores (mean 41.8 ± 30.9) compared to the non-EVA group, despite progressive threshold deterioration. Receptive language also improved more in the EVA group, although not statistically significant.ConclusionChildren with EVA may achieve superior short-term language outcomes with hearing aids, potentially due to a third window–related hidden air-bone gap. However, given the progressive nature of EVA, long-term follow-up is required to assess articulation development and determine optimal timing for cochlear implantation.Supplementary InformationThe online version contains supplementary material available at 10.1007/s00405-025-09649-6.

EVA patients exhibit distinct audiometric patterns and genetic variants based on their inner ear morphology. The higher prevalence of biallelic SLC26A4 mutations in IP-II & EVA children suggests a stronger genetic component in this phenotype, potentially influencing clinical management strategies. • The genetic and clinical characteristics of patients with enlarged vestibular aqueduct (EVA) have been studied. However, its manifestations in completely deaf children in China, especially those with or without incomplete partition type II (IP-II), are not yet fully understood. • Isolated enlarged vestibular aqueduct (IEVA) patients demonstrated lower hearing thresholds but higher air-bone gap (ABG) rates compared to IP-II with EVA (IP-II & EVA) cases. The SLC26A4 c.919-2A > G mutation emerged as predominant, with biallelic mutations occurring more frequently in IP-II & EVA cases. These findings may guide clinical management strategies for affected children.

To evaluate the clinical and diagnostic implications of identifying only a single heterozygous SLC26A4 variant in a patient with the full clinical phenotype of Pendred syndrome. A 20‑year‑old woman with lifelong deaf‑mutism developed progressive retrosternal goitre with dysphagia and dyspnoea. Pure-tone audiometry demonstrated profound bilateral sensorineural hearing loss. CT revealed nodular goitre and bilateral large vestibular aqueducts. She underwent thyroid lobectomy‑isthmectomy. Whole‑exome sequencing and quantitative PCR were performed on blood, excised thyroid tissue and parental samples. Histology confirmed benign nodular goitre. Genomics detected a heterozygous 57‑kb exons 2-3 deletion in SLC26A4, inherited from an asymptomatic mother; no second pathogenic variant was identified. Family studies confirmed maternal inheritance and absence of the variant in the father. The patient remained euthyroid and symptom‑free six months post‑surgery. A single heterozygous structural variant can manifest full PDS, underscoring the importance of copy‑number analysis and segregation studies when only one SLC26A4 allele appears affected.

ObjectiveThe study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation.Study DesignRetrospective single‐center study.SettingTertiary adult reference center.MethodsFifty‐eight patients were included. Evolution of pure tone and speech audiometry was analyzed. Cochlear size, vestibular aqueduct width, and endolymphatic duct and sac volume were assessed on both computed tomography scan and magnetic resonance imaging. Genetic explorations were documented, and genotype‐phenotype correlations were explored. Outcomes after cochlear implant (CI) were analyzed.ResultsHearing loss was diagnosed at 4 ± 4.0 years, being initially severe‐to‐profound in 74% of the ears. Sudden sensorineural hearing loss concerned 54% of patients. Both vestibular aqueduct and endolymphatic sac showed symmetric measurements (P < .001). Patients with SLC26A4 biallelic alterations (n = 22) had more associated thyroid disorders (14/22 vs 3/31, P < .001), earlier (2 ± 1.6 years old [yo] vs 5 ± 4.5 yo, P < .001) and lower age‐adjusted pure‐tone average (P < .001, two‐way analysis of variance), and greater endolymphatic sac volume (369 ± 118.1 mm3 vs 194 ± 208.7 mm3, P = .042), compared with patients with unconclusive genetic results. Consequently, more patients with SLC26A4 biallelic alterations received a CI (19/22 vs 17/31, P = .015) and at an earlier age (18 ± 12.5 yo vs 34 ± 18.9 yo, P = .009). Finally, 12 months after cochlear implantation, speech intelligibility for words improved from 23% ± 27.6% to 61% ± 34.7% in silence (P = .0012), and from 30% ± 31.3% to 87% ± 10.6% in noisy conditions.ConclusionThe auditory phenotype of patients with bilateral enlarged vestibular aqueduct is variable but seems to be more severe in case of biallelic alterations of SLC26A4. However, cochlear implantation benefits to these patients, regardless of genotype.

ABSTRACTObjectiveTo clinically validate manual measurement of cochlear length from pre‐operative image of cochlea with post‐operative image of cochlear implant (CI) electrode.MethodsTemporal bone computer tomography (CT) scans of 23 ears were available for this pilot study. The inner ear was three‐dimensionally (3D) segmented, and cochlea length was manually measured for preferred angular depth depending on inner ear anatomical types for CI electrode length selection. Post‐operative CT scans were made available for electrode reconstruction to measure electrode length inside the cochlea to validate pre‐operative measurement of cochlear length.ResultsNormal anatomy (NA) inner ear was identified in 11 ears, enlarged vestibular aqueduct syndrome (EVAS) in 4 ears, incomplete partition (IP) type I in 2 ears, cochlear hypoplasia (CH) in 5 ears, and otosclerosis in 1 ear. Cochlear length was measured for 650° of angular depth in NA ears, 540° in EVAS and otosclerosis, 360° in IP type I, and for available angular depth depending on the development of the cochlea in CH type. Based on the cochlea length measured, a closely matching electrode length was chosen for implantation from 1 CI manufacturer. Partial insertion was seen in 2 NA ears, 1 otosclerosis ear, and 1 CH ear, whereas full insertion of the chosen electrode was achieved in the remaining 19 ears.ConclusionManual measurement of cochlea length from 3D image of cochlea is a practical way of choosing electrode length for preferred angular insertion depth depending on the cochlea anatomy.Level of EvidenceBetween level 2 and 3.

Objective:To explore the hearing changes of children with different genotypes of SLC26A4 with enlarged vestibular aqueduct（EVA） using the linear mixed effect model（LMM）, providing evidence for the risk prediction of progressive hearing loss. Methods:A total of 48 children with EVA diagnosed in our hospital from January 2017 to January 2024. All subjects underwent two or more auditory tests. According to the results of deafness gene screening and sequencing, the genotypes are divided into: type A: homozygous mutation of c. 919-2A>G, type B: compound heterozygous or heterozygous mutation containing c. 919-2A>G, and type C: no mutation site of c. 919-2A>G of SLC26A4 gene. LMM was used to analyze the hearing thresholds change of 500 Hz, 1 000 Hz, 2 000 Hz, 4 000 Hz and the average in children with different genotypes with age. Results:A total of 92 ears, 314 audiograms of 48 children were included, the median number of audiograms was 3, the median age of initial diagnosis was 4 months, and the median follow-up time was 13 months. According to LMM, the standard deviation of random effects between patients and ears was large. There was no significant difference in hearing thresholds of different frequencies and the average in genotype A, genotype B, and genotype C, indicating that genotype had no effect on hearing threshold. There is an interaction between age and genotype. Taking genotype C as the reference, children with genotype B had the lowest increase in 500 Hz, 1000 Hz, and the average hearing threshold, followed by type A. Conclusion:EVA children exhibit substantial inter-individual/ear hearing threshold variability. Low-frequency thresholds progress slower than high frequencies. Genotype modulates progression rates, with wild-type（Type C） demonstrating fastest deterioration, supporting personalized auditory monitoring strategies.

Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.

To investigate comorbidities and severity correlations among inner ear malformations (IEMs) classifications and analyze subtype characteristics to optimize preoperative evaluation and cochlear implantation (CI) strategies. Retrospective multicenter data from Hubei Province were analyzed for 336 children with IEMs who received unilateral CI (2012-2020). IEMs were classified and graded using Sennaroğlu and Adibelli criteria, and data visualization tools were used to assess subtypes, comorbidities, and severity correlations. Among pediatric candidates for CI with IEMs, isolated enlarged vestibular aqueduct, isolated incomplete partition type II, and multiple malformations were the 3 most common subtypes, accounting for 80.7% of cases. Vestibular aqueduct malformation (VAM) primarily occurred as an isolated condition, whereas internal auditory canal malformation (IACM), cochlear nerve malformation (CNM), cochlear malformation (CM), and vestibular and semicircular canal malformation (VSCM) tended to coexist, exhibiting significant co-occurrence patterns. Severity analysis revealed a positive correlation between the severity of IACM and CNM (r = .13, P = .015), as well as between CM and VSCM (r = .17, P < .001). Additionally, VAM severity was significantly negatively correlated with the severity of IACM, CNM, CM, and VSCM (r = -.39, -.21, -.38, and -.30, respectively; P < .001). This study elucidated a detailed analysis of the subtype characteristics and comorbid relationships of IEMs in pediatric candidates for CI. Furthermore, it identified significant correlations between the severity levels of different malformation types. These insights contribute to refining preoperative evaluation protocols and tailoring treatment strategies for CI candidates.

Recessive variants of SLC26A4 are a common cause of hereditary hearing impairment and are responsible for non-syndromic enlarged vestibular aqueducts and Pendred syndrome. Patients with bi-allelic SLC26A4 variants often suffer from fluctuating hearing loss and recurrent vertigo, ultimately leading to severe to profound hearing impairment. However, there are currently no satisfactory prevention or treatment options for this condition. The CRISPR/Cas9 genome-editing technique is a well-known tool for correcting point mutations or manipulating genes and shows potential therapeutic applications for hereditary disorders. In this study, we used the homology-independent targeted integration (HITI) strategy to correct the SLC26A4 c.919-2A>G variant, the most common SLC26A4 variant in the Han Chinese population. Next-generation sequencing was performed to evaluate the editing efficiency of the HITI strategy. The results showed that only 0.15% of the reads successfully exhibited HITI integration, indicating that the c.919-2 region may not be a suitable region for HITI selection. This suggests that other site selection or insertion strategies may be needed to improve the efficiency of correcting the SLC26A4 c.919-2A>G variant. This experience may serve as a valuable reference for other researchers considering CRISPR target design in this region.

To analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation. We used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing. Auditory performance (CAP) and speech intelligibility (SIR) scores assessed hearing and speech rehabilitation outcomes, while academic performance evaluated learning post-cochlear implantation. Electrophoresis showed that the positive detection rates of SLC26A4 mutations were 89.58% in the EVA group, 89.66% in the EVA + MD group, and 0% in the control group. In the EVA group, the most common mutations were in exons 7 + 8 (52.08%), 11 + 12 (22.92%), and 19 (18.75%). In the EVA + MD group, the predominant mutations were in exons 11 + 12 (51.72%), 4 (34.48%), 7 + 8 (27.59%), and 19 (24.14%). The EVA + MD group had higher detection rates for two-site (37.93%) and three-site compound heterozygous mutations (13.79%) compared to the EVA group (22.92% and 10.42%, respectively). The median diagnosis time for profound hearing loss was 6.62 months in the EVA + MD group versus 10.56 months in the EVA group. There were no significant differences in CAP and SIR scores between the groups, but the EVA group showed better learning performance. This study reports, for the first time, multiple cases exhibiting a three-site compound heterozygous mutation in the SLC26A4 gene. The hotspot exons of the SLC26A4 gene differ between children with simple LVAS and those with LVAS accompanied by Mondini malformation. Children with both conditions show earlier onset of profound hearing loss and poorer learning performance compared to those with only LVAS.

ObjectiveHearing phenotype of the congenital cytomegalovirus (cCMV)‐infected children with isolated sensorineural hearing loss (SNHL) may be distinct from other types of SNHL and may provide an alternative approach for diagnosis.Study DesignA retrospective cohort study.SettingHearing test results of SNHL patients between 2006 and 2022 at Primary Children's Hospital and patients with the following conditions were included: cCMV with isolated SNHL, connexin 26 mutation, enlarged vestibular aqueduct (EVA), and idiopathic.MethodsUsing 1‐way analysis of variance (ANOVA) tests, we compared each patient's first reliable hearing threshold from 250 to 4000 Hz. The area under the receiver‐operating characteristic (AUROC) curves was calculated for hearing measures in the cCMV and idiopathic groups. The Youden index was then obtained to determine a prediction model for cCMV infection. Finally, plots of various parameters over time were evaluated to compare the cCMV and idiopathic groups.ResultsA total of 72 patients were evaluated (cCMV: 19; connexin 26: 13; EVA: 24; and idiopathic: 16). The ANOVA test indicated the cCMV group tended to display greater hearing threshold asymmetry (P < .001 vs EVA and connexin, P < .06 vs idiopathic). The ROC curve demonstrated high specificity (0.94) for cCMV infection if the threshold difference between the two ears was greater than 58.6 dB. Comparisons of plots over time suggest no statistically significant difference between the cCMV and idiopathic groups.ConclusioncCMV‐infected children with isolated SNHL can present differently from the other causes of SNHL. The AUROC analysis suggests that a PTA difference greater than 58.6 dB may provide a prediction model to distinguish cCMV from other types of SNHL.

BackgroundThe enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndromic autosomal recessive hearing loss DFNB4 in EVA patients. In Caucasian cohorts, the genetic determinants of EVA remain unknown in approximately 50% of cases. We have recruited a cohort of 32 Austrian patients with hearing loss and EVA to define the prevalence and type of pathogenic sequence alterations in SLC26A4 and discover novel EVA-associated genes.MethodsSanger sequencing, single nucleotide polymorphism (SNP) assays, copy number variation (CNV) testing, and Exome Sequencing (ES) were employed for gene analysis. Cell-based functional and molecular assays were used to discriminate between gene variants with and without impact on protein function.ResultsSLC26A4 biallelic variants were detected in 5/32 patients (16%) and monoallelic variants in 5/32 patients (16%). The pathogenicity of the uncharacterized SLC26A4 protein variants was assigned or excluded based on their ion transport function and cellular abundance. The monoallelic or biallelic Caucasian EVA haplotype was detected in 7/32 (22%) patients, but its pathogenicity could not be confirmed. X-linked pathogenic variants in POU3F4 (2/32, 6%) and biallelic pathogenic variants in GJB2 (2/32, 6%) were also found. No CNV of SLC26A4 and STRC genes was detected. ES of eleven undiagnosed patients with bilateral EVA detected rare sequence variants in six EVA-unrelated genes (monoallelic variants in SCD5, REST, EDNRB, TJP2, TMC1, and two variants in CDH23) in five patients (5/11, 45%). Cell-based assays showed that the TJP2 variant leads to a mislocalized protein product forming dimers with the wild-type, supporting autosomal dominant pathogenicity. The genetic causes of hearing loss and EVA remained unidentified in (14/32) 44% of patients.ConclusionsThe present investigation confirms the role of SLC26A4 in determining hearing loss with EVA, identifies novel genes in this pathophysiological context, highlights the importance of functional testing to exclude or assign pathogenicity of a given gene variant, proposes a possible diagnostic workflow, suggests a novel pathomechanism of disease for TJP2, and highlights voids of knowledge that deserve further investigation.

Large vestibular aqueduct syndrome (LVAS) typically manifests fluctuating, progressive, or sudden hearing loss. Cochlear implantation (CI) is a critical intervention for LVAS patients when hearing aids (HA) no longer confer sufficient benefit. However, determining the optimal timing for CI remains challenging due to the heterogeneous and unpredictable nature of hearing loss progression, particularly when audiological criteria for CI are met, and HA can still provide benefits. This study aimed to address these complexities by analyzing real-world data on the timing of CI and clinical decision-making processes in pediatric LVAS patients. This retrospective cohort study reviewed the medical records of 74 pediatric patients (<18 years) with LVAS who underwent CI at a tertiary care hospital in China between 2010 and 2023. Clinical data, including newborn hearing screening (NBHS) results, methods of hearing loss identification, hearing levels at the initial audiological assessment (IAA), and patterns of hearing loss progression, were analyzed. Additionally, key milestones were evaluated, including age at hearing loss identification, IAA, and CI, and the durations between these events. The median age at CI was 4.9 years (IQR: 3.0-6.8), with a median duration from IAA to CI of 2.9 years (IQR: 1.6-5.2). Patients identified through NBHS underwent CI earlier than those identified through poor response to sound or language learning difficulties. Moreover, patients with poor performance at IAA had an earlier age at CI and shorter duration from IAA to CI. CI timing was comparable among different hearing loss progression patterns. Finally, among patients meeting CI criteria but still benefiting from HA, while those who directly underwent CI had an earlier age at implantation, their interval from IAA to CI was similar to those who initially underwent HA fitting. The majority of LVAS patients experience progressive hearing loss and undergo CI during early childhood. Failure of NBHS and poor auditory performance at IAA are indicative of rapid hearing deterioration. Once audiological criteria for CI are met, prolonged observation appears unnecessary. Nevertheless, further prospective longitudinal studies are warranted to refine the timing and decision-making process.

Enlarged vestibular aqueduct (EVA) is the most common radiographic finding in children diagnosed with congenital sensorineural hearing loss (SNHL). Many institutions use the Cincinnati criteria for diagnosis: width ≥2.0 mm at the operculum and/or ≥1.0 mm at the midpoint. Our goals are to expand our understanding of EVA by examining the audiometric and auditory brainstem response (ABR) characteristics of a large population of children with EVA and hearing loss. Retrospective chart review. Tertiary-care children's hospital. All children diagnosed with EVA from 2006 to 2016. Diagnostic. Vestibular aqueduct measurements were taken at the operculum. One hundred six patients were included (63 females; 60 bilateral EVA). The age of hearing loss diagnosis was significantly younger in patients with bilateral EVA compared with unilateral (0.0 [0-3] yr versus 5.0 [0.9-7.0] yr, p = 0.001). The most common pattern seen on ABR was SNHL-like (57%), followed by large wave I pattern (28.6%), followed by auditory neuropathy spectrum disorder (14.3%). Patients with bilateral EVA were more likely to have progressive hearing loss compared with patients with unilateral EVA ( p = 0.001). There was no correlation between EVA size and hearing stability or between EVA size and pure-tone average at the time of diagnosis. There is a wide range of clinical manifestations of EVA, though we found no significant correlation between size and progressiveness or severity. The clinical significance of a large wave I tracing on ABR is not fully understood and warrants further research.

Objective:To investigate the detection of the age and pathway and the etiology of sensorineural hearing loss in children, and to guide the early diagnosis. Methods:A retrospective analysis was conducted on the children who passed neonatal hearing screening but were diagnosed with sensorineural hearing loss in our department from January 2019 to September 2022. The clinical characteristics of 66 children with complete medical history, audiology examination, imaging examination and genetic detection of hearing loss were studied. The age group, detection route and degree of hearing loss were analyzed statistically. Results:①The children were aged from 7 months to 12 years old, and most of them were over 3 years old. ②The ways of detection were as follows: 23 cases（34.85%） due to abnormal hearing, 21 cases（31.82%） due to poor language, 15 cases（22.73%） found during physical examination, and 7 cases（10.61%） found with otitis media. Physical examination findings were concentrated in children aged ≤1 year old or 3-6 years old. ③Among the 56 cases, the degree of binaural hearing loss ranged from mild to severe, and most of those within 3 years of age had severe or above hearing loss. There were statistically significant differences in the degree of hearing loss distribution among different detection approaches（P<0.001）. Most children with hearing or language problems had moderate to severe or above hearing loss, and the proportion was significantly higher than that of children detected during physical examination or otitis media. ④There were 21 cases（31.82%） with a pathogenic mutation of GJB2 gene and 9 cases（13.64%） of large vestibular aqueduct syndrome, 7 of which were related to SLC26A4 gene mutation. There were 8 cases（12.12%） with high risk factors of hearing loss. There was 1 case（1.52%） with progressive speech loss after severe infection and high fever and 1 case（1.52%） with unilateral cochlear nerve dysplasia. Conclusion:Delayed hearing loss can occur at all ages and was not easy to be detected in time. The etiology was related to the mutation of deafness-related genes and the high risk factors of hearing loss. Combining hearing and gene screening in childhood, guiding parents to observe children's hearing response and language development, especially strengthening the follow-up of children with high risk factors for hearing loss, is conducive to the early diagnosis of delayed hearing loss.

Objective:To explore the clinical characteristics, audiological outcomes, and factors influencing the efficacy of pharmacological treatment in patients with sudden hearing loss associated with large vestibular aqueduct syndrome（LVAS）. Methods:A retrospective analysis was conducted on the clinical data of 77 bilateral LVAS patients（117 ears） hospitalized for sudden hearing loss from January 1, 2009, to December 31, 2023. The inclusion criteria required that patients to be diagnosed according to the Valvassori standard and had received standardized pharmacological treatment. Clinical features, audiological outcomes, and treatment efficacy were analyzed. Statistical methods were employed to identify factors associated with treatment outcomes. Results:The age of the enrolled patients ranged from 4 to 37 years. The age of onset for the initial hearing fluctuation varied between 0 and 24 years, with a mean age of 5.8 years. The male-to-female ratio was approximately balanced（37 males and 40 females）. The proportion of unilateral to bilateral sudden hearing loss was 1.0︰1.2, with unilateral right ear hearing loss being more frequently occurring（64.9%）. Triggering Factors: Triggers included no identifiable factors in 48.1% of cases, a history of head trauma（24.7%）, upper respiratory tract infections（11.7%）, onset following physical fatigue（11.7%）, and less frequently, noise exposure, alcohol consumption, or emotional stress（each 1.3%）. Clinical Symptoms: Hearing loss was the sole symptom in 35.1% of cases. Concurrent symptoms included vertigo in 44.2% and tinnitus in 46.8%. Patients with a disease duration of ≤14 days demonstrated a treatment efficacy rate of 75.0%. Among those who responded to treatment, 93.0% had profound or greater hearing loss prior to therapy, with an average improvement in hearing thresholds of 32 dB HL. In pretreatment, 68.9% of patients exhibited low-frequency air-bone gaps, increasing to 76.1% post-treatment. Additionally, 17.6% of treated ears demonstrated a ≥15 dB HL improvement in low-frequency bone conduction thresholds. In the non-responsive group, 7.3% of ears still showed some improvement in bone conduction thresholds. Statistically significant differences（P<0.05） were observed between the treatment-effective and non-effective groups concerning the age of initial hearing fluctuation, disease duration, and severity of hearing loss at onset. Conclusion:The efficacy of pharmacological treatment for sudden hearing loss in LVAS patients is influenced by the age at onset, duration of the disease, and severity of hearing impairment. Early diagnosis and timely intervention significantly enhance treatment efficacy, particularly in patients with a disease duration of ≤14 days and an initial sudden hearing loss. Patients with severe hearing loss, especially those with profound or greater impairment, exhibit greater sensitivity to treatment. Pharmacological interventions positively impact both air conduction and bone conduction thresholds, with the observed improvement in bone conduction thresholds warranting further investigation.