Diagnosis Of Sensorineural Hearing Loss Research Articles

Combination of static and dynamic neural imaging features to distinguish sensorineural hearing loss: a machine learning study.

Sensorineural hearing loss (SNHL) is the most common form of sensory deprivation and is often unrecognized by patients, inducing not only auditory but also nonauditory symptoms. Data-driven classifier modeling with the combination of neural static and dynamic imaging features could be effectively used to classify SNHL individuals and healthy controls (HCs). We conducted hearing evaluation, neurological scale tests and resting-state MRI on 110 SNHL patients and 106 HCs. A total of 1,267 static and dynamic imaging characteristics were extracted from MRI data, and three methods of feature selection were computed, including the Spearman rank correlation test, least absolute shrinkage and selection operator (LASSO) and t test as well as LASSO. Linear, polynomial, radial basis functional kernel (RBF) and sigmoid support vector machine (SVM) models were chosen as the classifiers with fivefold cross-validation. The receiver operating characteristic curve, area under the curve (AUC), sensitivity, specificity and accuracy were calculated for each model. SNHL subjects had higher hearing thresholds in each frequency, as well as worse performance in cognitive and emotional evaluations, than HCs. After comparison, the selected brain regions using LASSO based on static and dynamic features were consistent with the between-group analysis, including auditory and nonauditory areas. The subsequent AUCs of the four SVM models (linear, polynomial, RBF and sigmoid) were as follows: 0.8075, 0.7340, 0.8462 and 0.8562. The RBF and sigmoid SVM had relatively higher accuracy, sensitivity and specificity. Our research raised attention to static and dynamic alterations underlying hearing deprivation. Machine learning-based models may provide several useful biomarkers for the classification and diagnosis of SNHL.

Incidence of Seromucous Otitis in Schools in Southern Algeria

Introduction: Seromucous otitis (SMO) is a very common pathology, affecting almost 50% of children. It is a benign condition, but should be investigated in adults for neoplasia of the nasopharynx. It is bilateral in 85% of cases, with an average age of 5 years. Although the evolution of this pathology is often favorable in children, with a tendency to spontaneous regression, in adulthood these ears can evolve into simple or dangerous chronic otitis. Aim: To assess the incidence of seromucous otitis in children in southern Algeria (Laghouat), where the hot season is longer than in temperate or cold regions, and to detect and treat chronic forms. Materials & Methods: This is a monocentric, prospective study involving all schoolchildren aged between 3 and 12, with no history of otitis (chronic otitis) or sensorineural hearing loss, over a 13- month period (October 2020 to October 2021). The diagnosis of sensorineural hearing loss is based on anamnesis and confirmed by clinical examination and functional hearing tests. Results: Of the 340 children examined over a one-year period, 28 presented with seromucous otitis, i.e. 8.2% of the sample size, with a peak in frequency between the ages of 4 and 6. There was also a slight male predominance. Promiscuity was the most frequent risk factor, observed in 64% of cases. Spontaneous regression of seromucous otitis was observed in 10 children (35.7%), and surgical treatment with a trans-tympanic aerator with or without adenoidectomy was instituted in 13 children. Conclusion: The natural evolution of SMO does not always lead to spontaneous regression, and many cases require early management and strict monitoring to prevent complications. It is therefore necessary to introduce screening as part of school hygiene in order to reduce the incidence of chronic otitis in adults.

Association of Smoke and Nicotine Product Consumption With Sensorineural Hearing Loss: A Population-Level Analysis.

To test the hypothesis that use of cigarettes or other products with either cigarette-like smoke profile or high nicotine content by young populations increases the odds of developing sensorineural hearing loss (SNHL). Retrospective cohort study. TriNetX US Collaborative Network (2003-2022). Approximately 3.6 million patients at least 18 years old. None. The primary outcome of interest was diagnosis of SNHL, defined using medical billing codes (International Classification of Diseases, Tenth Revision, Current Procedural Terminology, etc.). Cohort inclusion criteria included electronic health record entry after 2003, age 18 to 54 or 55+ years at index, and status of cigarette, noncigarette nicotine, or cannabis use. Covariates were controlled via 1:1 propensity score matching for SNHL-related conditions, including diabetes mellitus and ischemic diseases. Odds for developing SNHL were calculated against control subjects aged 18 to 54 years who have no record of nicotine/cannabis use. Odds for developing SNHL are higher for people 18 to 54 years old who use any nicotine product (odds ratio [95% confidence interval], 5.91 [5.71-6.13]), cigarettes only (4.00 [3.69-4.33]), chewing tobacco only (9.04 [7.09-11.63]), or cannabis only (3.99 [3.60-4.44]) compared with control. People 55+ years old who use no products also showed increased odds for SNHL (4.73 [4.63-4.85]). Both nicotine and smoke exposure seem to be strongly associated with increased odds for developing SNHL, with chewing tobacco having the strongest association.

COMPREHENSIVE AUDIOLOGICAL STUDIES SENSORY NEURAL HEARING LOSS OF NOISE GENESIS

currently, noise is becoming one of the most common factors that adversely affects the organ of hearing. The purpose of this work wasto assess the information content of a number of modern audiological tests in the diagnosis of sensorineural hearing loss of noise origin. 30 patients with bilateral hearing loss were subjected to a comprehensive audiological examination. Additionally, weinform you that we are conducting scientific research on the implementation of an improved method of speech audiometry for the diagnostic purpose of hearing loss of noise origin.

Hearing Loss and Sociodemographic Barriers to Health Care Access Using the All of Us Research Program.

To explore how gender and low-income status independently influence general health care access in patients with hearing loss. Cross-sectional study. National database. Patients with a diagnosis of sensorineural hearing loss from the National Institutes of Health All of Us database were included. Data entered from May 2018 to November 2022 was analyzed. Patient demographicssuch as age, gender, educational level, and insurance status were assessed. Multivariate logistic regressions were performed for statistical evaluation. A subset of 8875 patients (48.3% male, mean age 69) were evaluated. After multivariate analysis, female participants were more likely than male participants to report difficulty affording prescribed medications (odds ratio [OR]: 1.7, p < .0005) and specialists (OR: 1.4, p < 0.005). Female patients were also more likely to delay care due to elder care responsibilities (OR: 2.6, p < .0005), employment obligations (OR: 1.7, p < .0005), and feelings of apprehension in seeing a provider (OR: 1.7, p < .0005). Finally, female participants reported feeling less likely to be involved in their own medical care compared to males (OR: 1.2, p < .005). Low-income (<$25,000) participants reported less likely to feel respected (OR: 3.2, p < .0005) and delivered understandable health information (OR: 2.3, p < .0005) by providers compared to participants of higher income. This work suggests that patients with hearing loss, female gender, and lower socioeconomic status independently introduce barriers to health care access and utilization. These factors should be considered in efforts to promote equity in the care of patients with hearing loss.

The effect of bony cochlear nerve canal (BCNC) diameter on the degree of sensorineural hearing loss.

This study investigated the correlation between the diameter of the bony cochlear nerve canal (BCNC), as determined by Temporal bone CT, and MRI findings of cochlear nerves (CN) in children with sensorineural hearing loss (SNHL). A prospective study design was followed. Radiological data (Temporal bone CT and MRI) of fifty children with sensorineural hearing loss (age <18y) were included in the study. All patients (100 ears) underwent routine MRI protocol in addition to 3D CISS (3-D constructive interference in steady state). Based on CT findings, the BCNC was classified according to its diameter into three groups; group 1 (<1.4mm), group 2 (1.4-2.0mm), and group 3 (>2.0mm). A significant difference between the three groups at degrees of SNHL (p<0.001) was observed. Significant difference (p<0.001) was also observed in the mean level of pure tone audiometry (PTA) average in group 1 compared to group 2. The CN was absent in 20 ears of group 1 CT results (29%), CN hypoplasia was noticed in 40 ears of group 1 CT (58%). However, CN was present in 9 ears of group 1 CT (13%), while in group 2 and 3, CN was present in 100% of the cases (27, and 4 ears, respectively, p<0.001). MRI and CT imaging are valuable in the diagnosis of SNHL in children. Moreover, with BCNC stenosis, there was a high probability of CN aplasia or hypoplasia.

Effect of Neonatal Hearing Screening on Early Diagnosis of Sensorineural Hearing Loss.

The aim of the study to screen the neonates for earlier diagnosis of sensorineural hearing loss and to assess the relationship between the hearing loss in newborns along with the high risk factors. A prospective, cohort, observational analytical study done at department of ENT,MGMMC & MYH INDORE (M.P.) carried out during 2018-2019 over 200 neonates who were randomly selected screened by OAE & BERA before their discharge from the hospital and after stabilizing high risk neonates. Out of 200 neonates, sensorineural hearing loss found to be in 4 neonates (2%) and hearing impairment seen 13.8 times more in high risk neonates as compare to the low risk neonates. The core goal of the study was to emphasize the importance of universal newborn hearing screening for early diagnosis & intervention in newborns & Neonates in terms of auditory rehabilitation as every child is precious and hearing is their fundamental right.

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Adult genetic sensorineural hearing loss (SNHL) may be underestimated. 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. 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. 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). 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.

Inner Ear Malformations in Cochlear Implantation Candidates at Mother and Child Hospital of Bingerville (Côte d’Ivoire)

Abstract Objective The aim of this study was to determine the prevalence and types of inner ear and/or cochlear nerve anomalies in children who are candidates for cochlear implantation. Methods This was a descriptive cross-sectional study with a retrospective review of medical and imaging records performed in a tertiary care children's hospital. All cochlear implants candidates under 15 years old with imaging assessment between January 2019 and December 2021 were concerned. The studied parameters were reason for consultation, risks factors, inner ear malformations (IEMs) classified and stratified by sensorineural hearing loss (SNHL) degree, gender, and age at diagnosis. Results In total, 81 children (162 ears) were included in the study. Abnormalities of the inner ear were found in nine children representing a prevalence of 11.1%. These children were aged between 2 and 14 years. The average age at diagnosis of SNHL was 3.5 years. Seven children had bilateral anomalies and two unilateral anomalies, that is, 16 ears presenting 40 malformations. These included 1 complete labyrinthine aplasia (2.5%), 12 cochlear malformations (30%), 1 common cavity (2.5%), 17 vestibular/squamous cell carcinoma (SCC) malformations (42.5%), and 5 internal auditory canal malformations (12.5%). Three ear out of 16 with abnormalities demonstrated a deficient cochlear nerve. There was an association between IEMs and profound deafness, and age at diagnosis of SNHL less than 2 years. Conclusion This study shows that 11.1% of children with profound deafness have IEMs. SCC malformations and cochlear hypoplasia were the most common. A precise description of these malformations during the imaging assessment is particularly useful for cochlear implantation to better plan this surgery.

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study

Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included. Also, patients were previously screened for variants in the GJB2 gene and for duplications/deletions in the GJB6 gene. Causative variants in 11 different genes were identified in 15 (21.1%) out of 71 probands, 5 of which had associated syndromes. In 6 other patients (8.5%), presumptive causative variants were identified in MYO15A, TMIE, TBC1D24, SPMX, GJB3, PCDH15, and CDH23 genes, uncovering a potential case of digenic Usher syndrome. The study was inconclusive in 20 probands (28.2%), in 19 due to lack of segregation analysis and in one due to uncertain phenotype-genotype matching. In the remaining 30 patients (42.3%) no potentially causative variants were identified. The diagnostic yield did not significantly vary according to the age of hearing-impairment onset. As the first study on the application of NGS technologies in SNHL based on a Portuguese cohort, our results may contribute to characterize the spectrum of variants related to SNHL in the Portuguese population. Additionally, the present study provides new insights into the contribution of MYO3A, TECTA, EDNRB, TBC1D24, and GJB3 genes to SNHL. For the significant number of undiagnosed patients, reanalysis of WES data – either for a broader gene panel or in a non-targeted approach – may be considered.

Potential diagnostic biomarkers for early detection of idiopathic sensorineural hearing loss in type 2 diabetes mellitus patients

Background: Sensorineural hearing loss (SNHL) is a hearing loss that accounts for almost 90% of all hearing loss. Various factors can cause this disorder, one of which is diabetes mellitus (DM). However, few studies still discuss biomarkers to detect the incidence of SNHL in patients with DM as early as possible. The purpose of this paper is to determine the potential of biomarkers to detect SNHL in type 2 diabetes mellitus (T2DM) patients. Methods: The author uses a database in the form of PubMed, Cochrane, and ScienceDirect used to search for articles using the Boolean operator "AND" or "OR" using the keywords "hearing loss," "diabetes," "biomarkers," "Prestin," "lipid profile," and "Nox2". A total of 276 studies were obtained, followed by the title and abstract screening and feasibility assessment (eligibility) to get inclusion studies included in the qualitative analysis (systematic study). Result: A total of 10 inclusion studies consisted of 2 cross-sectional studies, 2 case controls, and six preclinical studies with 105 and 101 patients in the cross-sectional and case-control studies, respectively. A total of 5, 3, and 2 studies reported associations between hearing loss and Prestin, Nox2, and lipid profile values, respectively. Conclusion: The biomarkers such as Prestin, Nox2 and lipid profile have a role in the early diagnosis of SNHL, but no related studies discuss T2DM. Therefore, basic and clinical studies are still needed to determine its effectiveness.

Calcium Channel Blockers and the Risk of Sensorineural Hearing Loss.

To evaluate calcium channel blockers as a potential prophylactic agent for sensorineural hearing loss (SNHL).Patients: We used a retrospective cohort of US veterans treated by the Veteran's Affairs healthcare system. Patients were included in the study if 1) they were diagnosed with high blood pressure; 2) had no previous diagnosis of SNHL; 3) were prescribed a calcium channel blocker after diagnosis or as a control cohort, patients who had no antihypertensive medication use. Patients were categorized into mutually exclusive cohorts by their antihypertensive medication exposure: calcium channel blocker exposed and no antihypertensive medication exposure. Incident SNHL was defined as an inpatient or outpatient record with diagnosis codes international classification of diseases (ICD)-9-CM 389.1 or ICD-10-CM H90, H90.41, H90.42, H90.A21, H90.A22. An audiology or otolaryngology clinic visit was required for patients with an outpatient diagnosis of SNHL. A total of 1,338,409 patients met the inclusion criteria consisting of 292,981 patients with CCBs (25,614 with verapamil and 267,367 with other CCBs) and 1,045,428 patients with no antihypertensive medication. On average, patients were middle-aged, White men with a body mass index (BMI) of 30+. Cox proportional hazards model estimates from propensity score matched data revealed CCB users had a 23.6% decreased risk of SNHL compared with those with no antihypertensive medication use (hazard ratios [HR] = 0.764; 95% confidence interval = [0.752-0.777]). This analysis found evidence supporting the theory that calcium channel blockers might be a potential prophylactic agent for sensorineural hearing loss. Additional research is warranted.

Isolation of sensory hair cell specific exosomes in human perilymph

Evaluation of hearing loss patients using clinical audiometry has been unable to give a definitive cellular or molecular diagnosis, hampering the development of treatments of sensorineural hearing loss. However, biopsy of inner ear tissue without losing residual hearing function for pathologic diagnosis is extremely challenging. In a clinical setting, perilymph can be accessed, potentially allowing the development of fluid based diagnostic tests. Recent approaches to improving inner ear diagnostics have been focusing on the evaluation of the proteomic or miRNA profiles of perilymph. Inspired by recent characterization and classification of many neurodegenerative diseases using exosomes which not only are produced in locally in diseased tissue but are transported beyond the blood brain barrier, we demonstrate the isolation of human inner ear specific exosomes using a novel ultrasensitive immunomagnetic nano pom-poms capture-release approach. Using perilymph samples harvested from surgical procedures, we were able to isolate exosomes from sensorineural hearing loss patients in only 2–5 μL of perilymph. By isolating sensory hair cell derived exosomes through their expression level of myosin VIIa, we for the first-time sample material from hair cells in the living human inner ear. This work sets up the first demonstration of immunomagnetic capture-release nano pom-pom isolated exosomes for liquid biopsy diagnosis of sensorineural hearing loss. With the ability to isolate exosomes derived from different cell types for molecular characterization, this method also can be developed for analyzing exosomal biomarkers from more accessible patient tissue fluids such as plasma.

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Variant prioritization of exome sequencing (ES) data for molecular diagnosis of sensorineural hearing loss (SNHL) with extreme etiologic heterogeneity poses a significant challenge. This study used an automated variant prioritization system (“EVIDENCE”) to analyze SNHL patient data and assess its diagnostic accuracy. We performed ES of 263 probands manifesting mild to moderate or higher degrees of SNHL. Candidate variants were classified according to the 2015 American College of Medical Genetics guidelines, and we compared the accuracy, call rates, and efficiency of variant prioritizations performed manually by humans or using EVIDENCE. In our in silico panel, 21 synthetic cases were successfully analyzed by EVIDENCE. In our cohort, the ES diagnostic yield for SNHL by manual analysis was 50.19% (132/263) and 50.95% (134/263) by EVIDENCE. EVIDENCE processed ES data 24-fold faster than humans, and the concordant call rate between humans and EVIDENCE was 97.72% (257/263). Additionally, EVIDENCE outperformed human accuracy, especially at discovering causative variants of rare syndromic deafness, whereas flexible interpretations that required predefined specific genotype–phenotype correlations were possible only by manual prioritization. The automated variant prioritization system remarkably facilitated the molecular diagnosis of hearing loss with high accuracy and efficiency, fostering the popularization of molecular genetic diagnosis of SNHL.

Cochlear implantation in children with Autism Spectrum Disorder (ASD): Outcomes and implant fitting characteristics

BackgroundLittle is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed with Autism Spectrum Disorder (ASD). The aim of the study was to evaluate a group of ASD CCI users in order to describe their ASD clinical features and CCI outcomes; report on the average electrical charge requirements; and evaluate the possible correlations between electrical and psychophysical outcomes with ASD characteristics. Materials and methodsA multicentre observational study of 22 ASD children implanted in four cochlear implant (CI) centers. Data concerning profound SHL diagnosis, ASD diagnosis, CI timing and CI compliance were collected. Sound Field (SF) was assessed through repeated behavioural measurements. Categories of Auditory Perception (CAP) and Categories of Language (CL) were used to evaluate speech perception and language skills at short (≤2 yrs), medium (5 yrs) and long term (>10 yrs) follow-up. Fitting parameters such as comfortable thresholds, pulse-width (pw, μsec) and clinical units converted into units of charge/phase were collected. The diagnosis of ASD was acquired by the referral neuropsychiatric department and severity was assessed through the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and the Childhood Autism Rating Scale (CARS). ResultsAt the final follow-up session the median SF threshold for CI outcomes was 30 dB HL (min 15 – max 60). CAP score was extremely variable: 45.5% showed no improvement over time and only 22% of children reached CAP scores of 5–7. CL 45.5% showed no improvement over time and score was 1–2 in the majority of ASD children (72.7%), while only 18.2% reached the highest level of language skills. There were no statistically significant differences at each follow-up between subjects with or without comorbidities. CAP and CL were inversely correlated with DSM-V A and B domains, corresponding to lower speech and language scores in children with more severe ASD symptoms, and maintained their correlation at mid and long follow-ups whilst controlling for age at CI. Electrical charge requirements did not correlate with SF or age at implant but did inversely correlate with ASD severity. With regards to CI compliance: only 13.6% children (3) with severe DSM-V A/B levels and CARS score were partial/intermittent users. ConclusionThe present study is a targeted contribution to the current literature to support clinical procedures for CI fitting and audiological follow-up in children with ASD. The findings indicate that the outcomes of CI use and the fitting procedures are both influenced by the severity of the ASD symptoms rather than the demographic variables or associated disorders.

Immunochemical Markers of Sensorineural Hearing Loss

The purpose of this study was to detect changes in the serum concentrations of cytokines, heat shock proteins (HSP27 and HSP70), and antibodies against neural proteins, as well as to estimate their informational value in patients suffering from sensorineural hearing loss (SNHL). The study involved 38 men employed as flying personnel (flight instructors, aircraft commanders, and flight engineers) and 21 otherwise healthy men of comparable age. We detected specific cytokines that participate in immune inflammatory process in SNHL. The cytokine imbalance in the participants was characterized by excessive activation of the major inflammatory (IL-1β, TNF-α) and anti-inflammatory (IL-4) cytokines, and a decrease in IL-2. Cytokine deregulation was accompanied by diminishment of HSP70 concentration, a HSP with immunomodulatory action. It was shown that neuroimmune reorganization manifested as enhancement of production of autoantibodies against neural proteins, in particular, S-100 and voltage-dependent calcium channels, which may be regarded as markers of the autoimmune process in SNHL. These results revealed the most informative indices that may be recommended as additional criteria in the diagnosis of SNHL.

Early Extended Neonatal Screening for Congenital Cytomegalovirus Infection: A Quality Improvement Initiative

Identification of congenital cytomegalovirus (cCMV) infection in neonates is important for early diagnosis of sensorineural hearing loss. Therefore, a quality improvement project was designed with an aim to improve newborn CMV screening by 25% from a baseline rate of 22%. This project was conducted across two hospital sites at one medical center with two tertiary care newborn nurseries and neonatal intensive care units. Symptomatic neonates with suggestive findings of cCMV, who had failed the newborn hearing screen, who had not had a hearing screen performed by 10 days of age, or who were infants of HIV-positive mothers were screened for cCMV. Serial interventions (formalized teaching sessions using an algorithm and involving a nurse educator, creation of electronic medical record order sets, huddle board reminders, and regular audits) were conducted, and statistical process control p-charts were used to identify any signals and to determine if there was any special cause variation. Of 5,817 infants born in 2018, 903 were eligible for screening. Small for gestational age (46%) was the most common indication for screening. After multiple interventions, the median screening rate increased from a baseline of 22% in 2016 to 74% during the one-year study period. Four infants had positive CMV screen and received appropriate treatment as a result of these interventions. Multidisciplinary quality improvement initiatives can improve newborn screening for cCMV infection in a tertiary care environment.

4077 Listening with the HEAR-QL: Quality of Life in Children with Hearing Loss

OBJECTIVES/GOALS: This study evaluates the utility of self-reported quality of life measure in children with hearing loss. We will compare self-reported HEAR-QL scores with parent-reported HEAR-QL scores. We will then test the relationship between HEAR-QL scores and scores on a standardized assessment of cognition, the NIH Cognition Battery. METHODS/STUDY POPULATION: We will administer the HEAR-QL questionnaire to children with hearing loss and their parents. We will then administer the NIH Cognition Battery to the child. We will include in our population children ages 7 to 14 with hearing loss of any severity or side. We will exclude those with intellectual disability, disorders of speech or language, or those who would be unable to complete the questionnaires for any reason. Children will be recruited from Otolaryngology clinics at St. Louis Children’s Hospital based on ICD diagnosis of sensorineural hearing loss between 01/2015 – 03/2020. RESULTS/ANTICIPATED RESULTS: We will aim to recruit 44 patients in total, which is the sample size needed to detect a moderate correlation (r = 0.4) with a 1-sided α = 0.05 and 1-β = 0.8. HEAR-QL scores and NIH Cognition Battery scores will be reported using descriptive statistics. Linear regression as well as correlation analysis between HEAR-QL scores and cognitive testing scores will be performed using a 1-sided α = 0.05, with 1-β = 0.8. If recruitment is sufficient, we will adjust for demographics that are significantly correlated with the outcome on multivariate analysis. Finally, we will test for agreement between parent report and child report by calculating a Kappa statistic. DISCUSSION/SIGNIFICANCE OF IMPACT: There is little clarity on the necessity of amplification in children with hearing loss, yet the child’s perspective is not routinely assessed in clinical practice. This study employs self-report in a pediatric population with hearing loss to find out if children provide new and reliable information.

Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit

IntroductionSensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. The next generation genomic sequencing (NGS) allows to obtain an etiological diagnosis in a high percentage of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications in the clinical management of patients and their families. Material and methodWe included 27 patients diagnosed with SNH between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenics™ panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern. ResultsA genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral HNS). 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest variants pathogenic and/or probably pathogenic in other genes associated with isolated HNS (PR2 × 2, TECTA and STRC), with syndromic HNS (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic HNS (BSND, ACTG1 and CDH23). DiscussionThe etiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the daily routine and that this information has prognostic and therapeutic implications.

Features of objective audiometry tests and their diagnostic value in the research of hearing in children

The article highlights the features of the conduct and interpretation of data on audiological tests at the children in order to identify the degree, type and level of damage of the auditory disorders. According to a survey of 121 children with a diagnosis of sensorineural hearing loss, it was confirmed that using a complex algorithm of audiological tests such as OAE, DPOAE, BERA and ASSR in hearing diagnosis of the children allows to obtain more accurate and detailed information and avoid possible errors in determining various forms of hearing disorders.