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Rationale: Congenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene., Patient Concerns: A newborn Chinese girl exhibited signs of congenital deafness., Diagnosis: Congenital deafness was confirmed through comprehensive newborn hearing screenings that included otologic, audiologic, and physical examinations. Genetic analysis revealed a compound heterozygous mutation involving c.188delT and c.235delC in the GJB2 gene, indicating a genetic basis for her hearing loss., Interventions: The patient underwent cochlear implantation, which resulted in stable auditory outcomes., Outcomes: Despite follow-up difficulties, stable auditory outcomes were achieved post-cochlear implantation, highlighting the potential efficacy of this intervention in GJB2-related hearing loss., Lessons: This case study enriches our understanding of GJB2 mutations and underscores the critical role of genetic testing in diagnosing congenital sensorineural hearing loss. It emphasizes the necessity for early intervention and sustained interdisciplinary care to enhance the quality of life for patients with genetic hearing impairment., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose of Review: Congenital CMV (cCMV) infection is the most common infection of newborns and a leading cause of hearing loss and other neurologic disabilities in children. This review focuses on the diagnosis, presentation and management of cCMV infection., Recent Findings: Cytomegalovirus is one of the leading causes of sensorineural hearing loss in children. It also leads to neurodevelopmental disabilities and learning problems throughout childhood in both symptomatic and asymptomatic newborns. Urine and saliva PCR testing are the preferred methods of testing newborn infants for cCMV. In recent years, newborn-targeted and universal screening programs have been implemented in several states and major medical centers with the goal of identifying infected infants at risk for hearing loss. Treatment for infants diagnosed with cCMV infection should be limited to those who are moderately to severely symptomatic at birth with cCMV infection, though treatment may be beneficial for children who are asymptomatic with isolated sensorineural hearing loss., Summary: As more children with cCMV are being identified through newborn screening, understanding the clinical presentation and sequelae is important for appropriate management of children with cCMV., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: We used simple variables to construct prognostic prediction ensemble learning models for patients with sudden sensorineural hearing loss (SSNHL)., Study Design: Retrospectively study., Setting: Tertiary medical center., Patients: 1,572 patients with SSNHL., Intervention: Prognostic., Main Outcome Measures: We selected four variables, namely, age, days after onset of hearing loss, vertigo, and type of hearing loss. We also compared the accuracy between different ensemble learning models based on the boosting, bagging, AdaBoost, and stacking algorithms., Results: We enrolled 1,572 patients with SSNHL; 73.5% of them showed improving and 26.5% did not. Significant between-group differences were noted in terms of age ( p = 0.011), days after onset of hearing loss ( p < 0.001), and concurrent vertigo ( p < 0.001), indicating that the patients who showed improving to treatment were younger and had fewer days after onset and fewer vertigo symptoms. Among ensemble learning models, the AdaBoost algorithm, compared with the other algorithms, achieved higher accuracy (82.89%), higher precision (86.66%), a higher F1 score (89.20), and a larger area under the receiver operating characteristics curve (0.79), as indicated by test results of a dataset with 10 independent runs. Furthermore, Gini scores indicated that age and days after onset are two key parameters of the predictive model., Conclusions: The AdaBoost model is an effective model for predicting SSNHL. The use of simple parameters can increase its practicality and applicability in remote medical care. Moreover, age may be a key factor influencing prognosis., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2024, Otology & Neurotology, Inc.)

Objective: The purpose of this study was to evaluate the value of asymmetry values, gain, and pathological saccades of the video head impulse test (vHIT) in sudden sensorineural hearing loss (SSNHL)., Study Design: Retrospective study., Setting: Tertiary referral center., Patients: A total of 226 individuals diagnosed with unilateral definite SSNHL were hospitalized. The assessment included a comprehensive evaluation of medical history, pure-tone test, acoustic impedance, positional test, video nystagmography (VNG), vHIT, vestibular evoked myogenic potentials (VEMPs) and magnetic resonance., Interventions: vHIT, VNG, cVEMP, oVEMP. Statistical analysis was performed with SPSS version 22.0 for Windows., Main Outcome Measures: The asymmetry values, gain, and pathological saccades of the vHIT., Results: The abnormal gain of vHIT in anterior, horizontal, and posterior canal in SSNHL patients with vertigo were revealed in 20 of 112 (17.9%), 24 of 112 (21.4%), and 60 of 112 (53.6%), respectively. The vHIT pathological saccades (overt + covert) of anterior, horizontal, and posterior canal in SSNHL patients with vertigo were observed in 5 of 112 (4.6%), 52 of 112 (46.4%), and 58 of 112 (51.8%), respectively. Multivariate analysis indicated that the prognosis of patients with vertigo was correlated with vHIT gain of posterior canal, pathological saccade in horizontal canal, asymmetric ratio of horizontal canal gain, asymmetric ratio of posterior canal gain, Canal paresis (%) on caloric test and spontaneous nystagmus., Conclusion: In the vHIT of patients with SSNHL with vertigo, the posterior canal is most easily affected. Reduced gain of posterior canal, pathological saccade of horizontal canal, and larger asymmetric gain of posterior canal and horizontal canal may be negative prognostic factors., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Otology & Neurotology, Inc.)

Purpose of Review: To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss., Recent Findings: Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun., Summary: Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose of Review: The purpose of this review is to summarize the very recent literature surrounding hearing outcomes of children with congenital cytomegalovirus (cCMV) detected through systematic screening programs., Recent Findings: There are several different approaches to cCMV screening including forms of targeted vs. universal screening of newborns as well as maternally-derived prenatal testing. However, many studies fail to document hearing-related outcomes both in the newborn period and further into childhood when late-onset sensorineural hearing loss (SNHL) can occur. This systematic review included studies of neonates screened for cCMV reporting hearing outcomes for at least one point in time. Hearing targeted screening appeared the most widely reported for detection of unilateral and bilateral SNHL in those with cCMV. A few studies examined these clinical findings in relation to antiviral treatment., Summary: Congenital CMV is an important and common cause of childhood hearing loss. Newborn screening programs may expand opportunities for early diagnosis and treatment of the infection and its sequelae., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: To evaluate semicircular canal function using video head impulse test (vHIT) in relapsing polychondritis (RP) patients presenting with dizziness and sensorineural hearing loss., Study Design: Retrospective case review., Setting: Tertiary referral center., Patients: Three patients with RP underwent vHIT and hearing tests., Intervention: Diagnostic., Main Outcome Measures: The gain in vestibulo-ocular reflex (VOR) and the presence of catch-up saccade were examined, and the correlation between semicircular canal dysfunction and hearing loss was investigated., Results: Of the six ears, five exhibited semicircular canal dysfunction. Among these, one ear showed dysfunction in two semicircular canals, while the remaining four ears demonstrated dysfunction in all three semicircular canals. Sensorineural hearing loss, ranging from moderate to profound, was detected by pure-tone audiometry in all six ears. Furthermore, a significant correlation was observed between VOR gain in the horizontal semicircular canal (HSC) and hearing level., Conclusions: This study demonstrated semicircular canal dysfunction in RP patients presenting with dizziness and hearing loss using vHIT. Moreover, a significant correlation was found between HSC dysfunction and the severity of hearing loss. While inner ear involvement is a key clinical symptom included in the diagnostic criteria for RP, there have been few reports evaluating vestibular dysfunction, and this is the first report on the evaluation of several cases using vHIT. Accurate assessment of vestibular function by vHIT may facilitate early diagnosis and intervention in RP, potentially improving patient outcomes., Competing Interests: Conflicts of interest and source of funding: The authors disclose no conflicts of interest and sources of funding., (Copyright © 2024, Otology & Neurotology, Inc.)

We present a case study of a 24-year-old man who reported mild balance and walking difficulties for 2 years. He had a history of recurrent fever, skin lesions, headache, and elbow pain, but most of these events resolved spontaneously. There was no significant family history. On examination, we observed frontal bossing, sensorineural hearing loss, and gait ataxia. This case underscores the significance of identifying clinical indicators in patients with neurologic symptoms, particularly recurrent fever, to establish a precise and thorough differential diagnosis.

Competing Interests: The authors report no conflicts of interest.

Rationale: This study aimed to address the diagnostic challenges associated with MYH9-related disorders (MYH9-RDs) and highlight the importance of recognizing Döhle body-like inclusions as crucial diagnostic markers for this condition., Patient Concerns: Patients with MYH9-RDs often present with mild and diverse clinical characteristics, leading to misdiagnosis, delayed diagnosis, and inappropriate treatments, such as hormonal therapy and splenectomy. This section highlights the significance of understanding atypical clinical presentations and their impact on patients' well-being., Diagnoses: This section emphasizes the misdiagnosis of MYH9-RDs as immune thrombocytopenia due to overlapping clinical features. This highlights the need for a comprehensive approach, including detailed personal and family history, careful review of peripheral blood smears, and identification of Döhle body-like inclusions to differentiate MYH9-RDs from other conditions., Intervention: This study advocates for a shift in the diagnostic approach, urging physicians to pay closer attention to the morphological features observed in peripheral blood smears, particularly the presence of Döhle body-like inclusions and large platelets. This emphasizes the importance of avoiding unnecessary diagnostic studies through effective utilization of this simple and reliable method., Outcomes: By adopting a comprehensive approach that combines gene sequencing with morphological analysis, an accurate diagnosis of MYH9-RDs can be achieved. Early identification of MYH9-RDs allows for appropriate management strategies, genetic counseling, and prevention of complications associated with the condition., Lessons: This section highlights the lessons learned from this study, emphasizing the need for increased awareness among healthcare professionals about MYH9-RDs and the importance of incorporating peripheral blood smear evaluations into the diagnostic process. This emphasizes the significance of accurate diagnosis to prevent unnecessary treatments and ensure appropriate patient care., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose of Review: Congenital cytomegalovirus infection (cCMV) is a major cause of childhood hearing loss and neurodevelopmental delay. Early identification of cCMV allows for interventions that improve outcomes, particularly for cCMV-related hearing loss that develops in early childhood. Most cCMV is asymptomatic at birth and is rarely diagnosed without newborn screening. Therefore, various approaches to cCMV screening are increasingly being adopted., Recent Findings: Both universal screening (testing all newborns) and targeted screening (testing triggered by failed hearing screening) for cCMV appear valuable, feasible and cost-effective, though universal screening is predicted to have greatest potential overall benefits. CMV PCR testing of newborn oral swabs is sensitive and practical and is therefore widely used in targeted screening programs. In contrast, PCR using dried-blood spots (DBS) is less sensitive but was adopted by current universal cCMV screening initiatives because DBS are already collected from all newborns in high-income countries, which circumvents large-scale oral swab collection., Summary: Targeted screening is widely recommended as standard of care, while universal screening is less common but is progressively considered as the optimal strategy for identification of children with cCMV. As with all screening programs, cCMV screening requires commitments to equitable and reliable testing, follow-up and services., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Objectives: The objectives of this study are to (i) estimate the incidence of vestibular schwannoma (VS) among patients in an integrated healthcare system who present for evaluation of sudden sensorineural hearing loss (SSNHL) and (ii) evaluate the efficacy of empiric steroid therapy on audiologic recovery among SSNHL patients ultimately diagnosed with VS., Methods: A retrospective chart review was performed on patients presenting with SSNHL in 2021 at a multicenter integrated healthcare system serving over 4 million members. Patient demographics, audiometric data, VS diagnosis, therapeutic steroid intervention, and data regarding treatment response were recorded. A clinically significant audiometric improvement was defined as (i) an increase of 15% in word recognition score, (ii) a decrease of 15 dB in four-frequency pure-tone average (PTA) using frequencies of 500, 1000, 2000, and 4000 Hz, or (iii) a PTA of <20 dB on follow-up audiogram., Results: Six hundred fifty-eight patients were reviewed, of which 309 (56.0% male; mean, 57.5 years) met the inclusion criteria with audiometric data and magnetic resonance imaging data. Ten patients (70.0% male; mean, 51.3 years) were found to have VS. Of these, five patients received oral steroid therapy alone, and five had combination therapy (oral + intratympanic steroid injections). No patients received intratympanic steroid therapy alone. Median PTA improvement with steroid therapy was 3.1-dB hearing loss, and median word recognition score improvement was 16.5%. Six of 10 patients demonstrated clinically significant audiometric improvement with steroid therapy., Conclusion: This study represents the largest US-based study showcasing the prevalence of VS in patients originally presenting with SSNHL. It also reinforces previous findings that VS does not preclude trials of steroid therapy., Competing Interests: Funding and conflicts of interest: None to disclose. No sources of support or funding., (Copyright © 2023, Otology & Neurotology, Inc.)

Objective: To investigate the diagnostic yield of targeted next-generation sequencing using hearing loss panels and to identify patient-related factors that are associated with a definite genetic cause., Study Design: Retrospective chart review., Setting: Tertiary referral center., Patients: Children with congenital or late-onset, bilateral sensorineural hearing loss., Interventions: Diagnostic., Main Outcome Measures: The number of patients with a definite genetic diagnosis., Results: We report on 238 patients with hearing loss: 130 were male and 108 were female. About 55% had congenital hearing loss. A genetic cause was identified in 94 of the patients (39.5%), with 72.3% of these showing nonsyndromic and 27.6% showing syndromic hearing loss. The diagnostic yield was highest among North African patients (66.7%). A multiple linear regression model shows that profound hearing loss, family history of hearing loss, congenital hearing loss, and North African ethnicity are significantly related to identifying a genetic cause., Conclusions: Targeted next-generation sequencing using a panel of hearing loss genes identified a genetic diagnosis in almost 40% of children with bilateral sensorineural hearing loss. We describe the predictors of a genetic diagnosis, and this information may be used during genetic counseling., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2023, Otology & Neurotology, Inc.)

Objectives: To study the need for defining unilateral idiopathic sudden sensorineural hearing loss (ISSNHL) as an otologic emergency and establish an evidence-based cutoff for treatment initiation for optimal outcome., Methods: A systematic literature search of "MEDLINE" via "PubMed," "Embase," and "Web of Science" and original case series comparing the outcome of steroidal treatment for ISSNHL as a function of delays of patient presentation, of diagnosis, and of treatment initiation. Total delay was defined as days from ISSNHL onset to first steroidal dose and divided into up to 3 days, up to 7 days, up to 14 days, and >14 days., Results: The literature search identified 1,469 ears and our original case series contributed 154 ears suitable for study inclusion, resulting in 1,623 ears for statistical analysis. An odds ratio (OR) of 0.42 (95% confidence interval [CI], 0.25-0.71) was calculated for recovery if treatment had been initiated within the third day since the sudden occurrence of a unilateral hearing loss compared with treatment initiation on or after the fourth day (I 2 = 40.1%). The calculated OR for recovery was 0.35 (95% CI, 0.26-0.47) when treatment was initiated during the first 7 days after the sudden hearing loss onset compared with a delay of 8 days or more (I 2 = 52.1%). The OR was 0.31 (95% CI, 0.21-0.46) when treatment was initiated during the first 14 days after the event compared with a longer delay (I 2 = 0.0%)., Conclusion: Unilateral ISSNHL should be considered a medical emergency. Initiating treatment before 3 days have elapsed since the event portends the best outcome., Level of Evidence: Level I., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2023, Otology & Neurotology, Inc.)

Background: There have been reports and studies indicating audiovestibular disturbances in COVID-19 patients with variations in the percentage of sensorineural hearing loss (SNHL). The purpose of this study is to compare the incidence of newly diagnosed SNHL, sudden idiopathic hearing loss (SIHL), tinnitus, and vestibular disturbances between infected and uninfected patients, as well as to identify population groups at risk., Methods: This study used TriNetX to obtain statistics on COVID-19 (+) and COVID-19 (-) patients from 61 healthcare organizations. Propensity score with 1:1 matching was used to control confounding variables. This study evaluated the relative risk of developing audiovestibular disturbances up to 1 month after a COVID-19 test and further investigated the incidence in COVID-19 (+) subset groups., Results: Between COVID-19 (+) and COVID-19 (-) patients who had an audiogram, there was no statistically significant difference in SNHL or SIHL (SNHL: relative risk [RR] = 0.69, 95% confidence interval [CI] = 0.46-1.04; SIHL: RR = 1.00, 95% CI = 0.42-2.40). Race/ethnicity or specified comorbidity did not affect the incidence of SNHL or SIHL. There was a statistically significant difference in tinnitus and vestibular disturbances between the COVID-19 (+) and the COVID-19 (-) groups (RR = 1.29, 95% CI = 1.01-1.66; RR = 2.33, 95% CI = 2.19-2.48)., Conclusion: New onset hearing loss is not more common in patients with a positive COVID-19 test than those with a negative COVID-19 test. Audiologic evaluation is needed to verify reported hearing disturbances. Although statistically significant in specific population groups, tinnitus and vestibular disturbances may not be clinically significant due to the low incidence., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Objective: Idiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with progressive hearing loss; however, genetic mutations associated with ISSNHL have not been identified., Methods: A prospective cohort study of adults older than 18 years presenting with ISSNHL at a tertiary academic medical center. Whole exome sequencing (WES) was conducted using Genome Analysis Toolkit best practices. An automated diagnostic screen employing a variety of models for pathogenicity was conducted across all genes with no specific targets. Candidate pathogenic variants were reviewed by a team of geneticists and clinicians. Variants were crossed-referenced with 92 known hearing loss associated genes., Results: Twenty-nine patients with SSNHL were screened using WES. The average age of patients was 53 ± 17.1 years, and most patients were White (62%) and men (55%). The mean pure tone average was 64.8 ± 31.3 dB for the affected ear. Using a 0.1% allele frequency screen, 12 (41%) cases had a mutation in any of the nine selected myosin genes. When we restrict to singletons (allele frequency = 0%), 21% (n = 6) of cases have qualifying variants, whereas only 3.8% (n = 481) of 12,577 healthy controls carry qualifying variants (p < 0.01). Most mutations (80%) were missense mutations. Of the novel mutations, one was a frameshift mutation, and two were a stop-gained function. Three were missense mutations., Conclusion: Myosin mutations may be associated with ISSNHL. However, larger population screening is needed to confirm the association of myosin mutation with ISSNHL and steroid responsiveness., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Objective: Acute spontaneous vertigo with idiopathic sudden sensorineural hearing loss (ISSNHL) can be diagnosed as labyrinthitis, which has a poorer prognosis than ISSNHL without vertigo. Thus, we aimed to identify the effect of the baseline vestibular function on the prognosis of labyrinthitis., Methods: A total of 23 patients with labyrinthitis was retrospectively divided into the recovered group (complete recovery, partial recovery) and the nonrecovered group (slight improvement, no improvement). Differences in caloric weakness and gain in the video head impulse test (vHIT) between the two groups were compared. In addition, the prognostic value of the vHIT on each of the three semicircular canals in predicting hearing recovery was analyzed using a linear regression model., Results: In final pure-tone audiometry, 2 patients (8.70%) exhibited complete recovery, 4 patients (17.39%) had partial recovery, and 17 patients (73.91%) had slight or no improvement. The initial ipsilesional posterior canal (iPC) gain and the contralesional anterior canal (cAC) gain were significantly decreased in the nonrecovered group (p < 0.013 for iPC and p < 0.007 for cAC, Mann-Whitney U test). The mean hearing gain was positively correlated with the iPC gain (R2 = 0.36, p = 0.003, Spearman correlation analysis)., Conclusion: An abnormal iPC gain may be a poor prognostic factor for hearing recovery. Additionally, the vHIT on the three semicircular canals can provide prognosis and insights into the pathophysiological mechanisms in patients with labyrinthitis., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Objective: To investigate the utility and effectiveness of a noise-attenuating, tablet-based mobile health system combined with asynchronous telehealth evaluations for screening rural Nicaraguan schoolchildren for hearing loss., Study Design: Prospective population-based survey., Setting: Rural Nicaraguan communities., Patients: There were 3,398 school children 7 to 9 years of age., Interventions: Diagnostic automated and manual audiometry, detailed asynchronous telehealth evaluations., Main Outcome Measures: Referral rates, ambient noise levels, and audiometric results as well as hearing loss prevalence, types, and risk factors., Results: Despite high ambient noise levels during screening (46.7 dBA), no effect of noise on referral rates on automated audiometry or confirmatory manual audiometry in those who failed automated testing was seen. The overall audiometric referral rate was 2.6%. Idiopathic sensorineural hearing loss (SNHL) and cerumen impaction were the most common types of hearing loss in this population with an estimated prevalence of hearing loss (all types) of 18.3 per 1,000 children. SNHL was associated with both drug exposure during pregnancy (p = 0.04) and pesticide exposure in the home (p = 0.03)., Conclusion: Hearing screening using a tablet-based, noise-attenuating wireless headset audiometer is feasible and effective in rural low-resource environments with moderately elevated ambient noise levels. The referral rate with noise-attenuating headsets was much lower than that previous reports on this population. In addition, manual audiometry resulted in much lower referral rates than automated audiometry. The confirmed hearing loss rate in this study is comparable to reports from other low-income countries that use some form of noise attenuation during screening. Pesticide exposure and drug exposure during pregnancy are potential causes of SNHL in this population., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Hypothesis: Adult genetic sensorineural hearing loss (SNHL) may be underestimated., Background: The diagnosis of genetic hearing loss is challenging, given its extreme genetic and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of next-generation sequencing (NGS) in the etiological diagnosis of adult-onset SNHL., Materials and Methods: Adults (>16 yr old) with SNHL were recruited at the Otolaryngology Department at Marqués de Valdecilla University Hospital (Spain). Environmental factors, acoustic trauma, endolymphatic hydrops, and age-related hearing loss were excluding criteria. An NGS gene panel was used, including 196 genes (OTOgenics v3) or 229 genes (OTOgenics v4) related to syndromic and nonsyndromic hearing loss., Results: Sixty-five patients were included in the study (average age at the onset of SNHL, 41 yr). Fifteen pathogenic/likely pathogenic variants considered to be causative were found in 15 patients (23% diagnostic yield) in TECTA (4), KCNQ4 (3), GJB2 (2), ACTG1 (1), COL2A1 (1), COCH (1), COCH/COL2A1 (1), STRC (1), and ABHD12 (1). Three patients had syndromic associations (20% of patients with genetic diagnosis) that had not been previously diagnosed (two Stickler type I and one polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome). Seven variants of unknown significance were found in COL11A1 (1), GSMDE (2), DNTM1 (1), SOX10 (1), EYA4 (1), and TECTA (1)., Conclusion: NGS gene panels can provide diagnostic yields greater than 20% for adult SNHL, with a significant proportion of variant of unknown significance that could potentially contribute to increasing diagnostic output. Identifying a genetic cause enables genetic counseling, provides prognostic information and can reveal unrecognized syndromes contributing to an accurate management of their associated manifestations., Competing Interests: The authors have no conflicts of interest to disclose or external funding to declare., (Copyright © 2022, Otology & Neurotology, Inc.)

Rationale: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often overlooked. Here, we report the case of a patient diagnosed with Pendred syndrome with hypokalemia., Patient Concerns: A 53-year-old deaf-mute woman was hospitalized due to severe limb asthenia. The emergency examination showed that her blood potassium level was 1.8 mmol/L., Diagnoses: Through the genetic test, we found a mutation of SLC26A4 gene in NM&#95;000441: c.2027T>A, p.L676Q, as well as the SLC26A4 exon 5-6 deletion. These genetic variations pointed to Pendred syndrome (an autosomal recessive disorder that mainly affects the inner ear, thyroid, and kidney) which is a common cause of syndromic deafness., Interventions: The patient was treated with potassium supplements and screened for the cause of hypokalemia., Outcomes: The patient was discharged after her potassium levels rose to the normal range., Lessons: Patients with Pendred syndrome may also have certain metabolic abnormalities; thus, more attention should be paid to them during clinical diagnosis., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Abstract: Sensorineural hearing loss (SNHL) is the most common sensory deficit, disabling nearly half a billion people worldwide. The cochlear implant (CI) has transformed the treatment of patients with SNHL, having restored hearing to more than 800,000 people. The success of CIs has inspired multidisciplinary efforts to address the unmet need for personalized, cellular-level diagnosis, and treatment of patients with SNHL. Current limitations include an inability to safely and accurately image at high resolution and biopsy the inner ear, precluding the use of key structural and molecular information during diagnostic and treatment decisions. Furthermore, there remains a lack of pharmacological therapies for hearing loss, which can partially be attributed to challenges associated with new drug development. We highlight advances in diagnostic and therapeutic strategies for SNHL that will help accelerate the push toward precision medicine. In addition, we discuss technological improvements for the CI that will further enhance its functionality for future patients. This report highlights work that was originally presented by Dr. Stankovic as part of the Dr. John Niparko Memorial Lecture during the 2021 American Cochlear Implant Alliance annual meeting., Competing Interests: The author discloses no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Purpose: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing loss, and hydronephrosis present since birth., Methods: This was a case report. Ophthalmic and systemic examination of the proband, histopathologic and ultrastructural characteristics of bilateral corneal discs, and molecular genetic evaluation by whole-exome sequencing are described., Results: A male infant was born with bilateral corneal opacities, sensorineural hearing loss, and hydronephrosis to healthy parents after an uneventful pregnancy. Penetrating keratoplasty of the left eye at age 10 months demonstrated minimal corneal edema with normal thickness Descemet membrane and cellular endothelium with intracytoplasmic vacuoles and degenerative changes in rare cells. Penetrating keratoplasty of the right eye 6 months later disclosed prominent corneal edema with a thickened posterior banded layer of Descemet membrane and severe endothelial atrophy. Whole-exome sequencing of the proband and parents' blood demonstrated a homozygous mutation in SLC4A11 gene (c.1735&#95;1737delCTC,p.Leu579del). The combined clinical, histopathologic, and molecular genetic findings raised consideration of an unusual phenotype of Harboyan syndrome manifesting as congenital hereditary endothelial dystrophy with a prelingual rather than, as previously described, postlingual hearing loss., Conclusions: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome., Competing Interests: Conflicts of interest statement: The authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Idiopathic sudden sensorineural hearing loss (ISSNHL) is an acute condition that presents with sudden hearing loss, for which steroids remain the main treatment. N-acetylcysteine (NAC), as a precursor of glutathione, can reduce the production of reactive oxygen species to protect hair cells in the inner ear from damage. However, data regarding the therapeutic outcomes of oral steroid combined with oral NAC for ISSNHL are still limited. This study was performed to investigate this issue., Methods: Between June 2016 and October 2021, 219 patients (219 ears) diagnosed with ISSNHL and treated with oral prednisolone were enrolled in this retrospective study. Oral NAC was prescribed to 94 of these patients (NAC group) but not to the remaining 125 patients (non-NAC group). The clinical and audiological findings were assessed., Results: The NAC group showed a mean hearing level gain of 29.5 ± 21.8 dB, speech reception threshold (SRT) gain of 26.2 ± 34.4 dB, and speech discrimination score (SDS) gain of 25.5 ± 30.4%. Although the NAC group had better mean hearing level, SRT, and SDS gains than the non-NAC group, the differences were not statistically significant (all P > .05). The only significant difference between the NAC and non-NAC groups was the posttreatment pure tone audiometry (PTA) thresholds at 8 kHz, which were 54.2 ± 24.4 and 60.9 ± 34.1 dB, respectively (P = .046)., Conclusions: This study demonstrated the effect of oral steroid combined with oral NAC for ISSNHL. Both the NAC and non-NAC groups showed obvious improvement in all PTA thresholds, as well as mean hearing level, SRT, and SDS gains. The NAC group showed significantly better PTA performance at a high frequency (8 kHz) than the non-NAC group. Therefore, for oral treatment of ISSNHL, we advocate concurrent use of oral prednisolone and oral NAC., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Objectives: There is an unmet need to match the anticipated natural history of hearing loss (HL) in enlarged vestibular aqueduct (EVA) with clinical management strategies. The objectives of this study are therefore to provide a detailed case characterization of an EVA cohort and explore the relationship between candidate prognostic factors and timing of cochlear implant (CI) surgery., Study Design: A multicenter retrospective review of patients diagnosed with EVA., Setting: Patient data recruitment across three CI centers in the UK., Patients: One hundred fifty patients with a radiological diagnosis of EVA from January 1995 to January 2021., Main Outcome Measures: Age at audiological candidacy for CI and age at first implant surgery., Results: EVA was predominately a bilateral condition (144/ 150) with increased prevalence in women (M:F, 64:86). 51.7% of patients failed new-born hearing screening, with 65.7% having HL diagnosed by 1 year. Initial moderate to severe and severe to profound HL were reported most frequently. In 123 patients, median age that audiological candidacy for CI was met for at least one ear was 2.75 years. Median age at first CI was 5 years (140/150).Pendred syndrome (confirmed in 73 patients) and ethnicity, were not significantly associated with earlier CI surgery. Multivariate linear regression demonstrated that male patients have first CI surgery significantly earlier than females (coefficient -0.43, 95% CI [-0.82, -0.05), p-value = 0.028)., Conclusions: This large UK EVA cohort provides evidence that patients should be closely monitored for CI candidacy within the first 3 years of life. Significantly, male gender is emerging as an independent prognostic factor for earlier assessment and first CI surgery., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2022, Otology & Neurotology, Inc.)

Abstract: We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro). Her testing demonstrates a non-length-dependent axonal sensorimotor polyneuropathy affecting predominantly the upper extremities with active denervation of the distal muscles of both arms. It is important to highlight these findings because most genetic neuropathies have a length-dependent pattern of involvement, affecting the distal legs before the arms. The electrodiagnostic findings in RTD2 have not been previously well described. These electrodiagnostic findings are in agreement with the typical clinical phenotype of RTD2, which affects the upper limbs and bulbar muscles more than the lower extremities., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

A 72-year-old woman presented with rapidly progressive hearing loss and neuropsychiatric symptoms without other focal neurologic symptoms. Progressive sequential sensorineural hearing loss (SNHL) was demonstrated on serial audiology. A diagnostic approach to SNHL is reviewed. Lumbar puncture revealed elevated protein, low glucose, and pleocytosis with poorly differentiated cells, and a differential diagnosis is discussed. MRI of the brain revealed gadolinium enhancement within the internal auditory canals bilaterally as well as the left cochlea. Zic4 antibodies were present in serum and CSF. A malignancy workup revealed right axillary lymphadenopathy. Biopsy revealed poorly differentiated breast adenocarcinoma, with identical cells to those in the CSF. The patient was treated with intrathecal methotrexate with no effect on the patient's hearing. In this case, rapidly progressive SNHL was the presenting feature of widely metastatic breast adenocarcinoma with leptomeningeal carcinomatosis, highlighting the need to search for a central cause for this presentation., (© 2022 American Academy of Neurology.)

Objective: Sudden sensorineural hearing loss (SSNHL) is an ideal entity for quality indicator (QI) development, providing treatment challenges resulting in variable or substandard care. The American Academy of Otolaryngology-Head and Neck Surgery recently updated their SSNHL guidelines. With SSNHL demonstrating a large burden of illness, this study sought to leverage the updated guidelines and develop QIs that support quality improvement initiatives at an individual, institutional, and systems level., Methods: Candidate indicators (CIs) were extracted from high-quality SSNHL guidelines that were evaluated using the Appraisal of Guidelines for Research and Evaluation II tool. Each CI and its supporting evidence were summarized and reviewed by a nine-member expert panel based on validity, reliability, and feasibility of measurement. Final QIs were selected from CIs using the modified RAND Corporation-University of California, Los Angeles appropriateness methodology., Results: Fifteen CIs were identified after literature review. After the first round of evaluations, the panel agreed on 11 candidate indicators as appropriate QIs with 2 additional CIs suggested for consideration. An expert panel meeting provided a platform to discuss areas of disagreement before final evaluations. The expert panel subsequently agreed upon 11 final QIs as appropriate measures of high-quality care for SSNHL., Conclusion: The 11 proposed QIs from this study are supported by evidence and expert consensus, facilitating measurement across a wide breadth of quality domains. With the recently updated SSNHL guidelines, and a greater focus on quality improvement opportunities, these QIs may be used by healthcare providers for targeted quality improvement initiatives., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2021, Otology & Neurotology, Inc.)

Objective: Idiopathic sudden sensorineural hearing loss (ISSNHL) may not only impair cochlear function but also damage vestibular structures, including the saccule, utricle, semicircular canals, and vestibular afferents. Poor recovery often occurs in patient with serious ISSNHL and accompanying vertigo. To define the severity of the disease and to predict prognosis, galvanic vestibular-evoked myogenic potentials (VEMPs) are added to the inner ear test battery., Study Design: Retrospective case review., Setting: Tertiary referral center., Patients: Thirty patients with unilateral severe to profound ISSNHL and accompanying vertigo were enrolled in this retrospective study., Intervention: Diagnostic., Main Outcome Measures: All subjects underwent pure tone audiometry, cervical and ocular VEMPs, and caloric tests before the initiation of treatment. The treatment outcome, rates of abnormal responses in the tests, and the characteristic parameters of VEMPs such as latencies and amplitudes, were analyzed., Results: In affected ears, the rates of abnormal acoustic cVEMPs, vibratory oVEMPs, galvanic cVEMPs, and galvanic oVEMPs were 60, 47, 37, and 20%, respectively. The improvement in the hearing of the affected ear was specified as good recovery or poor recovery. The normal galvanic VEMP group had a significant higher rate of good recovery than abnormal galvanic VEMP group (87% versus 27%; p = 0.003)., Conclusions: Patients with unilateral severe to profound ISSNHL and accompanying vertigo who have normal galvanic VEMPs have a higher likelihood of hearing recovery than those who have abnormal galvanic VEMPs., Competing Interests: None of the authors has potential conflicts of interest to be disclosed., (Copyright © 2021, Otology & Neurotology, Inc.)

Abstract: A 45-year-old man with a history of testicular seminoma treated 8 years earlier presented with chronic progressive truncal and limb ataxia, progressive sensorineural hearing loss, and episodic vertigo. Eye movement and neuro-otology examinations showed localizing abnormalities to the bilateral cerebellar flocculus, vermis, and bilateral cerebellar hemispheres. Audiometric testing showed bilateral symmetric sensorineural hearing loss. There was a normal MRI of the brain. Cerebrospinal fluid (CSF) showed modest lymphocytic pleocytosis, and there was an elevated serum choriogonadotrophic hormone. An abdominal CT scan showed a solitary, large retroperitoneal lymph node, and histopathologic examination of the node biopsy showed granulomatous inflammation without microorganisms; eventually, immunohistochemical markers confirmed the diagnosis of metastatic seminoma. Although normal neuroimaging and inflammatory CSF reaction suggested a paraneoplastic etiology, the initial paraneoplastic antibody testing was negative. Subsequent investigation identified a positive kelch-11 protein antibody, thus confirming the paraneoplastic connection between the metastatic seminoma and the subacute neurologic-cochleovestibular syndrome., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)

Abstract: This retrospective study investigated the use of electroacupuncture (EA) for the treatment of patients with sudden sensorineural hearing loss (SSNHL).Between May 2016 and April 2020, 140 patients with SSNHL were retrospectively analyzed. They were allocated to a treatment group (n = 70, received EA) and a control group (n = 70, received acupuncture). They received EA or acupuncture for a total of 3 months. The outcomes included average hearing threshold (AHT), tinnitus (as assessed by tinnitus handicap inventory [THI]), dizziness (as measured by dizziness handicap inventory [DHI]), and adverse events (AEs).After treatment, patients in both groups exerted more reduction in HT (P < .01), THI (P < .01), and DHI (P < .01), than those before the treatment. Furthermore, patients in the treatment group showed more relief in HT (P < .01), THI (P < .01), and DHI (P < .01), than those of patients in the control group. When it comes to AEs, both modalities had similar safety profile.The findings of this retrospective study indicated that the effectiveness of EA is superior to acupuncture in treating SSNHL. Future high quality studies are needed to warrant the present findings., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose of Review: This article details updated clinical presentations and current treatment paradigms of the common otologic disorders that may present to the neurologist for vertigo, including Ménière disease, superior semicircular canal dehiscence syndrome, perilymphatic fistula, barotrauma, cholesteatoma, Ramsay Hunt syndrome, enlarged vestibular aqueduct syndrome, and autoimmune inner ear disease including Cogan syndrome., Recent Findings: The recent data on modern imaging techniques with three-dimensional delayed IV contrast in Ménière disease, findings on the clinical and testing parameters to diagnose semicircular canal dehiscence and barotrauma, and clinical findings in Ramsay Hunt syndrome, cholesteatoma, and enlarged vestibular aqueduct syndrome are discussed in the article. The most recent findings on the treatment and evaluation of autoimmune inner ear disease and Cogan syndrome are also covered., Summary: This article discusses the common clinical otologic entities in patients who may present to the neurologist for vertigo, and it can be used as a guide in the diagnosis of these conditions with the use of auditory, vestibular, and imaging results., (Copyright © 2021 American Academy of Neurology.)

Purpose: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndrome using ultra-widefield FAF images., Methods: Forty-six eyes of 26 patients with mutations in the COL2A1 gene underwent ultra-widefield FAF imaging. The eyes were categorized into three types; no signs of abnormal AF, predominantly hyperfluorescent AF (hyper-AF), and predominantly hypofluorescent AF (hypo-AF). Goldmann perimetry was performed on 34 eyes, and line-scan images of the abnormal AF lesions were obtained by swept-source optical coherence tomography in 4 eyes., Results: Abnormal AF lesions were found in 37 eyes of 21 (80.7%) of the 26 patients. Hyper-AF was found in 15 eyes and hypo-AF was found in 22 eyes. The FAF changes corresponded with the funduscopically observed radial paravascular retinal degeneration. The average age at the examination was significantly younger in patients who had eyes with hyper-AF or no abnormal AF than in those with hypo-AF (12.8 vs. 28.4 years; P = 0.009). Abnormal AF-associated visual field defects were found in 5/10 (50%) eyes with hyper-AF and 17/18 (94%) eyes with hypo-AF. Hyper-AF changes tended to appear before retinal changes were detectable by fluorescein angiography. An absence of the ellipsoid zone and the outer nuclear layer and a thinning of the overall retinal thickness were found corresponding to the hypo-AF lesions in the swept source optical coherence tomography images., Conclusion: Abnormal FAF is characteristic of eyes with Stickler syndrome. Age-related alterations of the FAF was associated with visual field defects and disruption of the photoreceptors and retinal pigment epithelial cells., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.)

Objective: To evaluate auditory manifestations in children born to mothers who had exanthema during pregnancy, suspected to have been exposed to the Zika virus (ZIKV)., Study Design: Prospective observational., Setting: Tertiary referral center., Patients: Children born in Rio de Janeiro, Brazil, between April 2016 and September 2017, who were referred for newborn hearing screening (NHS)., Intervention: The NHS was performed by the automated brainstem auditory-evoked potential test at an intensity of 30 dBHL (decibels Hearing Level) with the result presented as "PASS/FAIL." A follow-up test was performed 6 months after the first examination., Main Outcome Measures: Hearing outcomes by audiological assessment., Results: Ninety-eight children were recruited and 78 underwent the NHS test. In the first evaluation, the FAIL NHS result was observed in 4 of the 78 children. Three were diagnosed with sensorineural hearing loss and one had conductive loss. Including the first and second evaluation, the frequency of audiological alterations was 5.1%. Of the four children diagnosed with hearing loss, two were carriers of ZIKV, one had suspected ZIKV infection, and one was asymptomatic with confirmed exposure to the virus. There was no progression of hearing loss or other hearing abnormality in the children by the time of the second evaluation. The group of nonexposed children (negative quantitative reverse transcription polymerase chain reaction for ZIKV) showed no hearing loss., Conclusion: Uni or bilateral sensorineural hearing loss was diagnosed in asymptomatic children at birth. These observations highlight the importance of periodic follow-up of patients with congenital Zika syndrome to better understand their long-term auditory clinical outcome.

Hypothesis: The phenotype of DFNA11 consists of specific features at diverse developmental and age stages., Background: Only eight mutations have been identified for autosomal dominant non-syndromic hearing loss related to MYO7A (DFNA11), and the onset and progression of DFNA11 are poorly understood., Methods: After linkage analysis and following Sanger sequencing in a family suspected to have autosomal dominant hereditary hearing loss, we analyzed the audiometric and vestibular functions and their long-term changes in the subjects carrying the variant., Results: A reported variant of uncertain significance, NP&#95;000251.3:p.Arg853His, in MYO7A was detected and cosegregation data of this large family provided evidence that the variant was likely pathogenic for DFNA11. Family members with the variant had no other symptoms associated with hearing loss and were confirmed to have autosomal dominant non-syndromic sensorineural hearing loss. Audiograms tended to show gently sloping configuration in childhood and flat configuration after the age of 30 years. Hearing loss at high frequencies progressed slowly, while hearing at low frequencies started to deteriorate later but progressed more rapidly. Some subjects showed partly abnormal results in the distortion products of otoacoustic emissions before the elevation of hearing thresholds. Vestibular function was within the normal range in all the subjects tested., Conclusion: We revealed that hearing loss at high frequencies was mainly noted in early developmental stages and that thresholds increased more rapidly in the low frequency range, resulting in changes in audiometric configuration. Deterioration of distortion product otoacoustic emissions (DPOAE) before the elevation of hearing thresholds was considered as a clinical feature of DFNA11.

Objective: To identify demographic and audiometric predictors of bothersome tinnitus within a large clinical cohort., Study Design: Retrospective chart review., Setting: Tertiary care hospital., Patients: 51,989 English-speaking patients between 18 and 80 years of age that received initial audiometric evaluations at the Massachusetts Eye and Ear Infirmary between the years 2000 and 2016., Main Outcome Measures: Patients were categorized according to whether or not tinnitus was the primary reason for their visit. The likelihood of tinnitus as a primary complaint (TPC) was evaluated as a function of age, sex, and audiometric configuration. Patient-reported tinnitus percepts were qualitatively assessed in relation to audiometric configuration., Results: Approximately 20% of adults who presented for an initial hearing evaluation reported TPC. The prevalence of TPC increased with advancing age until approximately 50 to 54 years, and then declined thereafter. In general, men were significantly more likely to report TPC than women. TPC was statistically associated with specific audiogram configurations. In particular, TPC was most prevalent for notched and steeply sloping hearing losses, but was relatively uncommon in adults with flat losses. Patients with frequency-restricted threshold shifts often reported tonal tinnitus percepts, while patients with asymmetric configurations tended to report broadband percepts., Conclusions: The probability of seeking audiological evaluation for bothersome tinnitus is highest for males, middle-aged patients, and those with notched or high-frequency hearing losses. These findings support the theory that tinnitus arises from sharp discontinuities in peripheral afferent innervation and cochlear amplification, which may induce topographically restricted changes in the central auditory pathway.

Introduction: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). MYH9-RD is clinically characterized by congenital macrothrombocytopenia, granulocyte inclusions variably associated with the risk of developing progressive sensorineural deafness, cataracts and nephropathy., Patient Concerns: A 5-year-old boy had a history of a mild bleeding tendency and chronic thrombocytopenia, first identified at four months of age. No other family members were noted to have similar clinical features or hematologic disorders., Diagnoses: The boy was diagnosed with MYH9-RD. Light microscopic examination of peripheral blood films (Wright-Giemsa stain) showed marked platelet macrocytosis with giant platelets and basophilic Döhle-like inclusions in 83% of the neutrophils. Immunofluorescence analysis disclosed a type II pattern, manifested by neutrophils which contained several circle-to-oval shaped cytoplasmic NMMMHCA-positive granules. Sequencing analysis of MYH9-RD genes was carried out and revealed a novel missense mutation of c.97T>G (p.W33G) in the patient but not in his parents., Intervention: No treatment is necessary. Recognition of MYH9-RD is important to Avoiding unnecessary and potentially harmful treatments., Outcomes: The patient's condition remained stable during the follow-up., Conclusions: As a result of identifying this missense mutation in this particular case, we have added c.97T>G (p.W33G) to the broad spectrum of potential MYH9 mutations.

Objectives: The aims of the study are to identify the limitations of the current newborn hearing screening (NHS) programs and provide recommendations for better protocols., Study Design: Retrospective analysis., Setting: Tertiary referral center., Patients: The study participants were 185 children who received cochlear implants (CIs) at ≤5 years of age., Interventions: Therapeutic and rehabilitative., Main Outcome Measures: The results of NHS, screening tools used, age, and hearing thresholds at which hearing loss was confirmed, causes of the hearing loss, age of CI insertion, aided pure-tone audiogram findings, and language development level were analyzed., Results: NHS data was available for 109 children, and 24 patients (22.0%) had passed NHS for both ears. Hearing loss was confirmed considerably later in children who had passed NHS than in children who were referred for further evaluation (p < 0.01). The most common cause for hearing loss in the NHS-pass group was SLC26A4 mutations (41.7%). Patients in the NHS-pass group received CIs considerably later than those in the NHS-referred group (p < 0.01). Among patients with SLC26A4 mutations, the language development level was significantly lower in the NHS-pass group than in the NHS-referred group (p < 0.01)., Conclusions: Careful counseling regarding NHS results is necessary for parents to understand that the absence of hearing loss at birth does not mean that the child will not develop hearing loss later in life. Genetic testing for SLC26A4 mutations may be necessary in regions with a high incidence of these mutations, such as East Asia.

Objective: To investigate the association of serum bilirubin level with hearing outcomes in bilateral sudden sensorineural hearing loss (BSSHL) patients., Participants: One hundred thirteen in-patient BSSHL patients were consecutively enrolled between July 2008 and December 2015 in a tertiary center., Main Outcome Measures: Multivariable linear regression, generalized estimating equations (GEE), and stratified analyses were applied to examine the association between serum bilirubin level and hearing outcome measures such as final hearing threshold and absolute and relative hearing gains in BSSHL., Results: After full adjustment for potential confounders, total bilirubin levels (TBIL) were observed to be positively and independently associated with hearing outcomes as measured by final hearing (β [95% confidence interval {CI}]: -1.5 [-2.7, -0.2] dB HL per 1 μmol/L increase in TBIL) and absolute and relative hearing gains (β [95% CI]: 1.4 [0.2, 2.7] dB and 1.6 [0.2, 3.1] dB, respectively) in the severe to profound hearing loss subpopulation., Conclusions: Higher TBIL levels, within the normal or mildly elevated ranges, were independently and significantly associated with better hearing outcome in BSSHL patients with severe to profound hearing loss. Given bilirubin elevation treatments exist, our finding suggests a novel pharmacological strategy for this specific subpopulation.

Enlarged vestibular aqueduct syndrome (EVAS) is the most common congenital ear anomaly that causes sensorineural hearing loss in children and may predispose a child to sudden hearing loss from sudden pressure changes or minor head trauma. We report a case of a 4-year-old boy with a history of a ventriculoperitoneal shunt and migraines who presented to the emergency department with parental and child care provider reports of acute hearing loss, without a history of trauma, infection, or hardware malfunction, who was diagnosed with bilateral EVAS. Diagnosis of EVAS occurs with specific temporal bone imaging with either high-resolution, thin-cut computed tomography or magnetic resonance imaging scans. Enlarged vestibular aqueduct syndrome is typically refractory to medical treatment and often results in hearing loss that is too severe to benefit from amplification, requiring cochlear implantation.

Objective: There is a common misconception that improvement in sudden sensorineural hearing loss (SSNHL) after treatment with steroid therapy effectively excludes the diagnosis of a vestibular schwannoma (VS) and such cases do not warrant an MRI. Paralleling this, steroids are commonly withheld for SSNHL in patients with an existing diagnosis of VS, believing that this condition is not steroid-responsive. This study seeks to underscore that improvement or recovery of SSNHL with steroid therapy does not exclude the diagnosis of VS and does not preclude the need for magnetic resonance imaging., Methods: A retrospective chart review was performed (2002-2017) of patients with previously untreated sporadic VS who developed SSNHL that improved after steroid treatment. A clinically significant audiometric improvement was defined as an increase of more than or equal to 15% in word recognition score (WRS) and/or decrease of more than or equal to 15 dB in 4-frequency pure-tone average (PTA). To supplement these data, a separate population of patients with incomplete or missing audiometric data, who reported unequivocal subjective improvement in hearing after steroid treatment, were also described to reinforce the study objective. Patient demographics, tumor characteristics, steroid regimen, and data regarding treatment response were recorded., Results: A total of 29 patients (55% women; median age of 47 yr) met inclusion criteria. Fourteen (48%) cases had objective audiometric documentation of SSNHL, while 15 (52%) had either subjective report only or incomplete audiometric data available. Eighteen (62%) had a single event, while 11 (38%) had more than one episode of SSNHL that was treated with steroids. For all patients, the median time between SSNHL and diagnosis of VS was 1.3 months (range, 0.13-148.4 mo). At the time of diagnosis, 15 tumors were purely intracanalicular, while 15 tumors had cerebellopontine angle extension. Of the latter, the median cisternal tumor size was 15.9 mm (range, 5.3-33). Twenty-six (90%) cases received oral steroid therapy alone, two (9%) had intratympanic steroid therapy alone, and one (3%) required combination therapy. The median PTA improvement with steroid therapy was 21 dB HL (range, -10-101.2) and the median WRS improvement was 40% (range, 4-100%)., Conclusion: A therapeutic response to steroid therapy for SSNHL does not exclude the diagnosis of VS. All patients with SSNHL should undergo appropriate diagnostic imaging to prevent delays in diagnosis and potential treatment.

MYH9 disorders are associated with sensorineural hearing loss, glomerular nephropathy, and presenile cataract. With this case report, we show the important role of the blood smear in its identification.

Hypothesis: We hypothesized that patients with DFNB16 caused hearing loss show characteristical audiological findings depending on genetic results., Background: Hearing loss belongs to the most frequent congenital diseases. In 50-70% of individuals, hearing loss is caused by genetic defects. DFNB1 (deafness, neurosensory, autosomal-recessive) is the most frequently affected locus. Despite its great genetic heterogeneity, comprehensive analysis of genes like STRC, encoding stereocilin (DFNB16) is possible. The genetic architecture of the DFNB16 locus is challenging and requires a unique molecular genetic testing assay. The aim of the study is a systematic characterization of the audiological phenotype in DFNB16-positive patients., Methods: Since 2011, 290 patients with suspicion of inherited hearing loss received a human genetic exploration. Eighty two DFNB1-negative patients advanced to further testing in the DFNB16 locus. STRC-positive patients obtained complete audiological diagnostic workup. Additionally, epidemiological data was collected., Results: Nine of 82 (11%) of the examined patients (mean age 5 yr) showed mutations in the STRC (3 homozygous, 6 compound heterozygous). Aside from a moderate hearing loss in the pure tone audiogram, auditory brainstem response thresholds were 40-50 dB nHL. Otoacoustic emissions were detectable in only one patient., Conclusions: Examination of the DFNB16-locus should be a standard diagnostic test after negative DFNB1-gene screening result. Notably, DFNB16-associated hearing loss can be audiologically characterized as moderate sensorineural hearing loss in the main speech field with absent otoacoustic emissions. Our study is the first to correlate audiological findings with genetic results in patients with hearing loss due to STRC.

Objective: High blood viscosity has been proposed as a mechanism for sudden sensorineural hearing loss (SSNHL); however, the relationship between blood markers of fibrinolysis or coagulation and severity or prognosis of SSNHL is still unclear. The aim of this study is to investigate the relationship between serum fibrinogen and SSNHL., Data Sources: PubMed and Scopus were searched for English language articles using the following keywords: SSNHL, sudden hearing loss, sudden deafness, idiopathic hearing loss or idiopathic sensorineural hearing loss, and fibrinogen., Study Selection: The articles in the study related to SSNHL and provided data about the serum fibrinogen level., Data Extraction: The data included patient profiles, fibrinogen level, recovery, and treatment modality., Data Synthesis: Nineteen articles were selected. The aggregated data were analyzed using the random effect model. Two articles that included the fibrinogen level with recovery rates were analyzed for the relationship between the fibrinogen level and recovery., Conclusions: The average fibrinogen level was 318 ± 8.5 mg/dl (mean ± standard error, within normal range). There was no difference in the fibrinogen level between SSNHL patients and the control group. The fibrinogen level of the recovery group was lower than that of the no recovery group. This showed that a high fibrinogen level was associated with poor prognosis, and it could be related to the severity of the pathological change rather than being the cause of the SSNHL. SSNHL includes various pathologies; therefore, the appropriate therapy should be selected based on each condition.