Sensorineural Research Articles

A national survey of first line antibiotic use in neonatal units - and the potential scope for iatrogenic sensorineural hearing loss prevention.

National Institute for Clinical Excellence (NICE) guidance for the management of neonatal sepsis recommends a first-line antibiotic regimen containing an aminoglycoside (gentamicin). Aminoglycoside exposure causes sensorineural hearing loss in individuals with a specific mitochondrial genetic variant (m.1555A>G). This variant can be detected promptly (in <30 min) by a point of care test. NICE does allow for variation in antibiotic regimes depending on local microbiology guidance. As practices can vary, this survey aimed to determine the current use of first-line antibiotic agents within neonatal units and postnatal wards across the UK. A telephone survey was conducted across all neonatal units in the United Kingdom. Responses were requested from a member of the neonatal team experienced in neonatal septic screening processes. One response was recorded per unit. Of the 187 neonatal units, 186 (99%) responded to the survey. One unit declined to participate. The survey results show most neonatal units (93%) and postnatal wards (74%) across the United Kingdom use aminoglycosides as first-line antibiotic agents. Antibiotic regimes varied between different units and between different locations within the same hospital (NICU vs. postnatal wards). In cases where there was a contraindication to aminoglycosides, the most common alternative antibiotic was cefotaxime. Most neonatal units in the UK use an aminoglycoside antibiotic as first-line agent for suspected sepsis. This places infants with the m.1555A>G genetic variant at risk of iatrogenic hearing loss. There needs to be integration of point-of-care genetic testing within the neonatal septic screening pathway.

The Effect of Noise and Reverberation on Spatial Perception in Sequential Bilateral Cochlear Implant Users

Abstract Background Spatial orientation is an executive function which includes vital activities and auditory organization according to daily bodily movements, directionality, and environmental information. It is directly linked to the vision and hearing and used throughout life, building complex relationships with these systems, based on learning. Purpose Our purpose in our study is to try to see the effects of noise and reverberation on the users by comparing the localization and auditory performances of the cochlear implant (CI) user individuals in a silent, noisy environment and reverberation. Research Design All subjects were subjected to immitancemetric/audiological tests, language development test (TIFALDI, Receptive/Expressive Language Test score 7 years and above), localization determination in noise, and localization determination test in reverberation. Study sample: In our study, 18 female and 16 male bilateral CI users with profound sensorineural hearing loss were included. The age range of subjects was 8 years 4 months and 10 years 11 months. Data Collection and Analysis Data from subjects were collected prospectively. Data analysis was analyzed with SPSS 21 program. Results It was observed that the subjects did not have difficulty in determining the direction in silent condition, but they had a significant difficulty in localizing the 135-, 225-, and 315-degree angles especially when the noise was signal-to-noise ratio (SNR) –10 dB and the reverberation was 06 and 09 second (p ≤ 0.005). Subjects' performances were significantly altered in sequential implanted users both when the SNR was changed and in the presence of reverberation (p &lt; 0.05). Conclusion As a result of our study, it is thought that individuals with hearing loss will experience intense difficulties, especially in noisy and reverberant environments such as schools, and using assistive listening devices in these environmental conditions will contribute positively to their academic development.

Proceedings of the Conference “CMV Vaccine Development—How Close Are We?” (27–28 September 2023)

Congenital cytomegalovirus (cCMV) is the most common infectious cause of disability in children, including sensorineural hearing loss. There is interest in developing a pre-conception vaccine that could confer protective immunity on a woman of child-bearing age, hence resulting in a reduced cCMV disease burden. Other populations, including solid organ transplant (SOT) and hematopoietic stem cell transplant (HSCT) patients, could also benefit from CMV vaccination. To review and discuss vaccines that are in clinical development, a workshop, sponsored by the National Institutes of Health (NIH) and the National Institute of Allergy and Infectious Diseases (NIAID), was empaneled. At this workshop, correlates of protective immunity against CMV, epidemiologic features of CMV transmission, and vaccine platforms in development were reviewed. Representatives from academia, pharma, and the NIH engaged in discussion on the current state-of-the-art in CMV vaccinology. A summary of the presentations from this is provided in this report.

Assessment of the Audiological Profile and Related Risk Factors for Sensorineural Hearing Loss in Children with Speech and Language Delay

Assessment of the Audiological Profile and Related Risk Factors for Sensorineural Hearing Loss in Children with Speech and Language Delay

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients

Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large portion of congenital hereditary HL. Our study was conducted on 13 patients from 13 unrelated families. The majority of patients presented with congenital severe to profound bilateral sensorineural HL. All patients were subjected to detailed family history and three-generation pedigree analysis to exclude any environmental cause and to ensure an autosomal recessive mode of inheritance. Molecular analysis was performed using the whole exome sequencing (WES) technique for the recruited patients. Three variants in the MYO7A and OTOF genes were reported for the first time in patients with ARNSHL (one nonsense, one frameshift, and one splice variant). Ten previously reported variants were detected in seven genes (GJB2, MYO15A, BSND, OTOF, CDH23, SLC26A4, and TMIE). They varied between missense, nonsense, frameshift, and splice variants. This study expands the molecular spectrum of two types of autosomal recessive deafness (types 2 and 9).

Angular Insertion Depth in Inner Ear Malformations, Relationship to Cochlear Size, and Implications for Electrode Selection.

The objectives were to determine the interrater agreement of the Skull AP X-ray in measuring angular insertion depth (AID), to provide descriptive information about the insertion depths of different electrodes used in inner ear malformations (IEMs), to investigate the effect of cochlear size and electrode length on AID, and to guide clinicians in electrode selection in IEMs. Retrospective case review. Tertiary referral center. A total of 198 IEMs (n = 169 patients) and 60 cochleae with normal anatomy (n = 60 patients) were selected from patients with severe mixed or sensorineural hearing loss who presented to our clinic and underwent cochlear implantation (CI) between January 2010 and December 2022. Three neurotologists independently measured AID on Skull AP X-rays. Basal turn length of the cochlea was measured in axial and coronal oblique reformatted sections on HRCT images. Interrater reliability (ICC) of the AID measurements on Skull AP X-ray, determining the impact of cochlea size and electrode length on AID measurements. The interrater reliability (ICC) test showed a high level of consistency in measuring AID in the Skull AP X-ray (R = 0.906, p < 0.001). In the control group, a negative correlation was observed between the AID and the basal turn length of the cochlea, while a positive correlation was found between electrode length and AID (R = 0.947, p < 0.001). The Skull AP X-ray appears to be a dependable tool for measuring AID. In cases of IEMs, it is important to select an electrode of appropriate length, considering the dimensions of the cochlea.

Thiamine-Responsive Megaloblastic Anemia (TRMA) Syndrome mimicking myelodysplastic neoplasm (MDS)

Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive disease with a homozygous or compound-heterozygous mutation in the SLC19A2 gene characterized by megaloblastic anemia, diabetes mellitus (DM), and sensorineural hearing-loss with onset in childhood. Folic acid and vitamin B12 in serum are normal with dysplastic erythropoiesis in the bone marrow often mimicking myelodysplastic neoplasms (MDN) as a potential differential diagnosis. Thiamine substitution leads to normalization of anemia, without effects on hearing-loss or DM. We report about a 38-year-old male patient, presented with a 12-year history of anemia, insulin dependent DM, optic neuropathy and a cataract since early childhood. The laboratory showed megaloblastic anemia. Other values were normal. The bone marrow smear showed dysplastic erythropoiesis with megaloblastic changes, and normal findings in cytogenetic and molecular genetic examinations. Next-generation sequencing based diagnostics revealed a heterozygous missense variant in the SLC19A2 gene on the maternal allele and a 3.4 Mb inversion in the chromosomal region 1q24.2 with breaking points in FAM78B and SLC19A2 on the paternal allele. Treatment with oral thiamine 100 mg daily was initiated, and 12 weeks later Hb levels and bone marrow morphology had normalized. Late-onset TRMA should be considered in adult patients with indicative comorbidities and a typical phenotype, which may mimic features of MDS.

Additional comments on foot reflexology treatment for sensorineural hearing loss in infant.

Currently, treatment options for infant sensorineural hearing loss (SNHL) are limited. This article describes a novel case of SNHL in an infant successfully treated with foot reflexology, along with observed brain activity changes before and after treatment, as indicated by functional magnetic resonance imaging. Hence, this commentary discusses the case and our viewpoints regarding foot reflexology for treating SNHL.

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.

To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for SLC26A4 variants, c.283G>A, c.845G>A, c.1061T>C, and c.1198delT. Another proband was homozygous for a TECTA variant, c.4163G>A. Patients with variants of the SLC26A4 gene had bilateral enlarged vestibular aqueduct, bilateral incomplete partition type 2 anomaly, bilateral hypoplastic cochlea and bilateral enlarged vestibular aqueduct plus hypoplastic cochlea anomaly. Patients with the variant TECTA gene had bilateral hypoplastic cochlea. This study identified variants of SLC26A4 in 36% of probands with inner ear anomalies. While we identified a variant of the TECTA gene in a proband with cochlear hypoplasia, further studies are needed to see if TECTA variants can cause cochlear malformations.

Study on the Correlation between SLC39A8 Gene and Body Constitution-related Phenotypes and Hearing loss: Based on a Mendelian Randomization analysis

IntroductionWe examined the role of hearing functions as potential mediators in relationships between noise exposures and abnormal body constitution-related results. Additionally, we employed Mendelian randomization (MR) to explore the causative connections between hearing problems and bodily composition.Material and methodsGene connections pertaining to phenotypes of hearing loss and body constitution were obtained from publically available summary data collected from adult population genome-wide association studies. Colocalization analysis was utilized to scrutinize the genetic associations pertaining to age-related hearing impairment (ARHI) liability and BMI within the SLC39A8 locus. For a comprehensive examination, we employed bi-directional MR encompassing both the 'forward' direction (from the composition of the body to hearing) and the 'reverse' direction.ResultsA common causative variable (rs13107325) for BMI and ARHI at the SLC39A8 locus was supported by colocalization analysis, which revealed that the two diseases shared the variant at the SLC39A8 gene. The forward analyses showed that body fat percentage (BFP) was significantly linked with the risk of ARHI [OR =0.95 (95% CI:0.93 to 0.98)] and that waist circumference (WC) was favorably associated with sensorineural hearing loss (SNHL) [OR=0.83 (95% CI:0.72 to 0.97)].ConclusionsWe couldn't find any proof to back up a causal relationship between constitution and HL in the reverse MR Analysis. Colocalization analysis recommended that SLC39A8 variant was often the source of high ARHI and BMI risk. In prospective MR, we discovered causal associations between WC and BFP with SNHL and ARHI, respectively. Therefore, our results suggest lipid metabolic abnormalities leading to adverse health outcome may lead to HL.

Risk factors for treatment-related sensorineural hearing loss and hearing aid use in medulloblastoma patients: an observational cohort study.

This study aimed to analyze treatment-related risk factors for sensorineural hearing loss (SNHL) and an indication for hearing aids (IHA) in medulloblastoma patients after craniospinal radiotherapy (CSRT) and platin-based chemotherapy (PCth). Atotal of 58patients (116 ears) with medulloblastoma and clinically non-relevant pre-treatment hearing thresholds were included. Cranial radiotherapy and PCth were applied sequentially according to the HIT 2000 study protocol or post-study recommendations, the NOA-07 protocol, or the PNET (primitive neuroectodermal tumor) 5MB therapy protocol. Audiological outcomes up to amaximum post-therapeutic follow-up of 4years were assessed. The incidence, post-treatment progression, and time-to-onset of SNHL, defined as Muenster classification grade ≥MS2b, were evaluated. Risk factors for IHA were analyzed separately. While 39patients received conventionally fractionated RT (CFRT; group1), 19patients received hyperfractionated RT (HFRT; group2). Over amedian follow-up of 40months, 69.2% of ears in group1 experienced SNHL ≥MS2b compared to 89.5% in group2 (p = 0.017). In multivariable Cox regressions analysis, younger age and increased mean cochlear radiation dose calculated as the equivalent dose in 2‑Gy fractions (EQD2) were associated with time-to-onset of SNHL ≥MS2b (p = 0.019 and p = 0.023, respectively) and IHA (p < 0.001 and p = 0.016, respectively). Tomotherapy and supine positioning were associated with alower risk for IHA in univariable modelling only (p = 0.048 and p = 0.027, respectively). Young age and cochlear EQD2 Dmean ≥40 Gy are significant risk factors for the incidence, degree, and time-to-event of SNHL as well as for IHA in medulloblastoma patients.

Compound Heterozygous Loss of Allele Coding for KCNJ16 in an Adult Presenting as Recurrent Hypokalemic Periodic Paralysis with Metabolic Acidosis and Hypokalemia

A 20-year-old male presented with fever and rapidly progressive muscle weakness. He had hypokalemia and metabolic acidosis, suggesting renal tubular acidosis (RTA). Further investigation revealed distal RTA with preserved acidification. A channelopathy was suspected. Whole exome sequencing identified a novel biallelic mutation in the KCNJ16 gene, which encodes the Kir5.1 protein. This is the first reported case of an Indian adult with biallelic KCNJ16 mutations presenting as pure renal phenotype without sensory neural hearing loss or cardiac manifestation.

Testing for genetic and viral etiologies in congenital hearing loss based on a survey of cochlear implant centers: proposed HEARRING group consensus and future directions

Background In cases of congenital sensorineural hearing loss, testing for genetic etiologies and congenital cytomegalovirus (cCMV) infection have become common practice. Aims/Objectives The purpose of this study is to determine which specific testing methodologies should be used and when. Material and methods We surveyed 20 practicing otolaryngologists across eighteen institutions in thirteen countries about their approach to cCMV, GJB2, and wider genetic testing. Results We found 90% of respondents employ all three tests, either in routine or special cases. cCMV testing is widely used, with 95% of respondents incorporating it into their clinical practice. GJB2 testing was employed by 90%. In cases with negative GJB2 test results, a majority of respondents proceeded to wider genetic screening. Test reimbursement was also examined for each test. For cCMV testing, 63.1% reported reimbursement, 68.4% reported reimbursement for GJB2 variant testing and 52.6% reported reimbursement for wider genetic screening. Conclusions and significance A common approach is to perform cCMV and GJB2 testing as the first tests, followed by wider genetic testing. This study offers insight into the prevalence, methodologies, and reimbursement status of these testing methodologies across multiple hearing centers and countries. Current consensus and future directions are described based on the current survey.

Evaluation of auditory system in vitiligo patients: A case-control study

BackgroundVitiligo is a common acquired pigmentary disorder characterized by well-defined areas of depigmentation due to loss of melanocytes. Vitiligo can affect melanocytes in the auditory system and potentially hearing. ObjectiveThe aim of this study was to investigate hearing changes in vitiligo patients. MethodsTwenty-six with vitiligo patients and 26 demographically matched healthy controls were included in this study. Audiological function was evaluated using pure tone audiometry (PTA), speech audiometry and tympanometry tests in all subjects. ResultsThe mean hearing threshold of the left ear at frequencies of 250 and 8000 Hz in vitiligo patients was significantly higher than the control group. Sensorineural hearing loss (SNHL) was seen in 14 (53.8 %) vitiligo patients and 5(19.2 %) control group (p < 0.05). Most affected patients (10/14; 71 %) had bilateral hearing loss especially in high frequency (8000 Hz). A significant association was identified between vitiligo and SNHL (OR 4.9; 95 % CI, 1.41–16.98, P = 0.01). There was a statistically significant correlation between hearing impairment and age in both groups. Gender, severity, activity and duration of vitiligo had no a significant effect on the results of audiometric tests. ConclusionThis study confirmed that the auditory system was affected in vitiligo patients. Vitiligo patients might be at a higher risk for auditory abnormalities at a younger age than control subjects. Auditory evaluation of vitiligo patients should be considered for early detection of hearing loss.

A Nationwide, Population-based Study of Intelligence and Hearing Loss Among 3,104,851 Adolescents.

Epidemiological studies have demonstrated a relationship between general intelligence (GI) in youth and hearing loss (HL). However, no large-scale study assessed the relations of GI in late adolescence with conductive HL and sensorineural HL, stratified by severity. This study examined the connection between HL and GI in late adolescence. Cross-sectional study on mandatory pre-military recruitment data recorded during 1967-2019 of patients aged 17-19. We compared GI between sensorineural HL, conductive HL, and those with normal hearing. In addition, we used logistic regression to measure the associations between HL and GI after adjuring for age, sex, education, and socioeconomic status. Among 3,104,851 adolescents assessed, 20,075 (0.6%) exhibited hearing loss (HL). We categorized general intelligence (GI) into three levels for analysis: low (lowest category), medium, and high (reference category). Adjusted odds ratios (ORs) revealed that sensorineural HL (SNHL) was associated with lower GI levels, with ORs ranging from 1.3 [95% CI 1.4-1.2] for the lowest GI category to 1.1 [95% CI 1.15-0.04] for the medium category. Conductive HL (CHL) also demonstrated significant associations, with ORs from 1.8 [95% CI 1.9-1.6] for the lowest GI level to 1.1 [95% CI 1.2-0.9] for medium. Further analysis revealed a statistically significant, severity-dependent relationship between SNHL and the odds of being in the lowest GI quartile (Q1). Specifically, the odds ratios for SNHL ranged from 1.2 [95% CI 1.1-1.3] to 1.3 [95% CI 1.1-1.5] as severity increased, indicating a strong link between greater SNHL severity and reduced cognitive performance. In contrast, CHL did not show a consistent correlation between its severity and GI outcomes, with an OR of 1.6 [95% CI 1.2-2.3] across severity levels. We report a strong relationship between HL and GI in late adolescence. Sensorineural HL, but not conductive HL, demonstrated a severity-based decline in GI. The results highlight the value of early, specifically targeted therapies for HL that consider its etiology and degree.

Sensorineural Hearing Loss Negatively Impacts Cognition in Older Subjects with Normal Lateral Semi-Circular Canal Function

Plain Language SummaryWithin the current study, the authors aimed to explore the effect of hearing loss on cognitive functioning in older adults, considering the effects of vestibular function, anxiety and depression on cognitive performance. There is increasing evidence that hearing loss is a modifiable risk factor for cognitive decline but also vestibular dysfunction, depression and anxiety symptoms may play a role in this association. Cognitive functioning was evaluated in a group with moderate-to-severe hearing loss and a matched control group based on sex, age, education level, vestibular function, anxiety and depression rates. The patients with a hearing impairment performed significantly worse on cognitive testing and the differences were most pronounced for the cognitive subdomains of Attention and Visuospatial/Constructional memory. Results from this study confirm that hearing loss negatively impacts cognitive functioning, even in older adults with normal vestibular function.

Early cochlear implantation: exploring electrophysiological thresholds and their role in pre-behavioural recommendations.

Studies investigating the relationship between initial electrophysiological thresholds and subsequent behavioural hearing thresholds have demonstrated uncertainty as to whether initial results can provide an accurate estimation of an infant's functional hearing. This estimation must be accurate if a cochlear implant (CI) is to be considered before behavioural audiometry.This study aims to explore the variance between initial electrophysiological thresholds and subsequent behavioural hearing thresholds in infants to determine under which conditions electrophysiological results can be used to support a CI recommendation before behavioural audiology. This is a prospective cohort study of 63 infants with suspected severe to profound hearing loss, referred to the Cochlear Implant Clinic, Melbourne, before 12 months of age. The assessment protocol includes auditory brainstem response, auditory steady state response, tympanometry, and behavioural audiometry. For most infants undergoing CI candidacy evaluation, initial electrophysiological thresholds are an accurate reflection of their subsequent behavioural thresholds. An alternative CI candidacy pathway is recommended for infants who show profound sensorineural hearing loss on initial electrophysiological testing, in the absence of middle ear effusion, prematurity, or auditory neuropathy features, to provide CI recommendations before behavioural thresholds are obtained. This would lead to reduced delay to implantation and improved oral language outcomes.

Automated volumetric analysis of the inner ear fluid space from hydrops magnetic resonance imaging using 3D neural networks

Due to the development of magnetic resonance (MR) imaging processing technology, image-based identification of endolymphatic hydrops (EH) has played an important role in understanding inner ear illnesses, such as Meniere’s disease or fluctuating sensorineural hearing loss. We segmented the inner ear, consisting of the cochlea, vestibule, and semicircular canals, using a 3D-based deep neural network model for accurate and automated EH volume ratio calculations. We built a dataset of MR cisternography (MRC) and HYDROPS-Mi2 stacks labeled with the segmentation of the perilymph fluid space and endolymph fluid space of the inner ear to devise a 3D segmentation deep neural network model. End-to-end learning was used to segment the perilymph fluid and the endolymph fluid spaces simultaneously using aligned pair data of the MRC and HYDROPS-Mi2 stacks. Consequently, the segmentation performance of the total fluid space and endolymph fluid space had Dice similarity coefficients of 0.9574 and 0.9186, respectively. In addition, the EH volume ratio calculated by experienced otologists and the EH volume ratio value predicted by the proposed deep learning model showed high agreement according to the interclass correlation coefficient (ICC) and Bland–Altman plot analysis.

A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.

Hearing loss (HL) is the most prevalent sensorineural disorders, affecting about one in 1000 newborns. Over half of the cases are attributed to genetic factors; however, due to the extensive clinical and genetic heterogeneity, many cases remain without a conclusive genetic diagnosis. The advent of next-generation sequencing methodologies in recent years has greatly helped unravel the genetic etiology of HL by identifying numerous genes and causative variants. Despite this, much remains to be uncovered about the genetic basis of sensorineural hearing loss (SNHL). Here, we report an Iranian consanguineous family with postlingual, moderate-to-severe autosomal recessive SNHL. After first excluding plausible variants in known deafness-causing genes using whole exome sequencing, we reanalyzed the data, using a gene/variant prioritization pipeline established for novel gene discovery for HL. This approach identified a novel homozygous frameshift variant c.1934_1937del; (p.Thr645Lysfs*52) in ANKRD24, which segregated with the HL phenotype in the family. Recently, ANKRD24 has been shown to be a pivotal constituent of the stereocilia rootlet in cochlea hair cells and interacts with TRIOBP, a protein already implicated in human deafness. Our data implicate for the first time, ANKRD24 in human nonsyndromic HL (NSHL) and expands the genetic spectrum of HL.

Incidental Findings on MRIs for Asymmetric Sensorineural Hearing Loss: A Clinical and Economic Analysis.

The gold-standard assessment of asymmetric sensorineural hearing loss (ASNHL) is contrast-enhanced MRI. Although rates of identifying a vestibular schwannoma are low (<5%), it is generally accepted as cost-effective. Yet, the impact of incidentalomas is rarely considered. This study aims to characterize the incidence of incidentalomas in the workup of ASNHL and quantify the associated socioeconomic burden. Retrospective cohort study. Single academic institution in a midsized city in the United States. Radiology records were queried for MRI's ordered for ASNHL between January 2012 and November 2022. Results were characterized as "group 1: normal," "group 2: abnormal read/normal variant," "group 3: abnormal-likely cause of ASNHL," or "group 4: abnormal-follow-up needed." Subsequent costs of workup for group 4 were estimated using Medicare Physician Fee Schedule for Medicare costs, US Congressional Budgeting Office data for private insurer costs, and USC-Brookings Schaeffer Initiative for Health Policy estimates for uninsured individuals. Six hundred patients met the inclusion criteria. Eighteen (3.0%) were categorized in group 3, whereas 40 (6.7%) were categorized in group 4. Of these patients, 7.5% (n = 3) had interventions to manage their incidental findings. Estimated per patient cost for further workup of incidental findings amounted to approximately $744, $1,534, and $2,260 for Medicare, private insurance, and uninsured costs, respectively. Incidentalomas occur over twice as often as retrocochlear pathologies responsible for ASNHL. Although the number of patients requiring treatment for incidentaloma is low, the economic impact is not insubstantial and should be considered for both individual patients and health system payers.