Bilateral Hearing Loss Research Articles

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).

Audiological and Subjective Benefits in a Child with Microtia and Atresia After Sequential Bilateral Implantation with Active Bone Conduction Devices: A Case Study

Background: With bilateral hearing loss, the main problems for the patient are speech understanding in noise and, especially in asymmetrical hearing loss, an inability to correctly localize sound sources. There are multiple methods of treatment and rehabilitation for people with conductive hearing loss, and one of them is to use an active bone conduction implant. This case study is designed to evaluate the auditory benefits and sound localization accuracy with active bilateral bone conduction implants—in comparison to unilateral ones—in a patient with congenital bilateral conductive hearing loss caused by a congenital malformation. We assess subjective and audiological benefits (functional, directional hearing, speech comprehension in quiet and noise). Case report: This study describes the results in a 15-year-old patient with bilateral congenital malformation of the outer ears and associated conductive hearing loss who was treated with two Bonebridge active bone conduction implants. Speech recognition ability, hearing thresholds, and sound localization were tested under three conditions: unaided, unilateral on the right-side, and bilateral on both sides. The patient filled in an Abbreviated Profile of Hearing Aid Benefit questionnaire (APHAB) to evaluate limitations in daily life caused by hearing impairment. The results show an improvement in free-field hearing thresholds and the ability to discriminate speech, both in quiet and in noise after implantation. Subjectively, the patient had significantly fewer problems with two implants than with one (or with no implant) in terms of hearing in everyday situations. Conclusions: Unilateral use of the Bonebridge device in a patient with congenital bilateral conductive hearing loss did not provide full benefits. However, bilateral implantation improved speech understanding in noise and sound localization.

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.

The Otoacoustic Emissions in the Universal Neonatal Hearing Screening: An Update on the European Data (2004 to 2024)

Background: The reported data on European universal neonatal hearing screening (UNHS) practices tend to be scarce, despite the fact that the European Union project, EUScreen, collected unofficial data from 38 collaborating European institutions. The objectives of this systematic review were as follows: (a) to identify the most recent (in a 20-year span) literature information about UNHS programs in Europe and (b) to provide data on the procedures used to assess the population, the intervention policies, and on the estimated prevalence of congenital hearing loss with emphasis on the bilateral hearing loss cases. Methods: Queries were conducted via the Pubmed, Scopus and Google Scholar databases for the time period of 2004–2024. The Mesh terms used were “OAE”, “Universal Neonatal Hearing Screening”, “congenital hearing loss” and “well babies”. Only research articles and review papers of European origin were considered good candidates. The standard English language filter was not used, in order to identify information from non-English-speaking scientific communities and groups. Results: Very few data and reports were identified in the literature search. Eleven manuscripts were identified corresponding to eight UNHS programs. Except in Poland, most of the data refer to regional and not national programs. The screening coverage estimates of all programs exceed 90%; infants were mostly assessed by a three-stage protocol (TEOAE + TEOAE + AABR), followed by a clinical ABR test. The average prevalence (i.e., from well babies AND NICU infants) of bilateral hearing loss ranged from 0.5 to 20.94 per 1000 (Zurich sample). Infants presenting unilateral or bilateral hearing losses were first rehabilitated by hearing aids and consequently (&gt;15 mo) by cochlear implants. Conclusions: Even though UNHS programs are well-established clinical practices in the European States, the amount of information in the literature about these programs is surprising low. The existing data in the timespan 2004–2024 corroborate the international UNHS data in terms of coverage and bilateral hearing loss prevalence, but there is a strong need to supplement the existing information with the latest developments, especially in the area of hearing loss rehabilitation.

Prospective long-term follow-up after grommet insertion: Hearing and functional health outcomes in children

ObjectivesTo assess hearing levels and functional health outcomes of children two years after routine grommet surgery with standard care follow-up (discharge to General Practitioner (GP) care or Ear Nose and Throat (ENT) clinic appointment at 4–8 weeks). MethodsProspective cohort study of 89 children (average age of 7.98 years) recalled for audiological assessment 2 years after grommet surgery in a large ENT outpatient service in South Auckland, New Zealand. Functional health was assessed using parent-reported responses to the OMQ20 questionnaire. Results46 (51.7 %) children had hearing loss in at least one ear with 28 (31.5 %) children having bilateral hearing loss. Māori children had statistically higher odds compared to non-Māori children (odds ratio 5.491, p = .003) to have bilateral hearing loss after controlling for age, household deprivation, gender, season, and mode of follow-up. Most parents reported concerns with their child's hearing, speech, attention-seeking behaviours, and nasal symptoms, but not ear problems. Bilateral hearing loss (p < .001) was found to significantly predict functional health status (total OMQ20 score). ConclusionsThe high prevalence of hearing loss and functional health concerns suggest that the standard follow-up care is not adequately managing children after routine grommet insertion. Māori children are disproportionately impacted, and post-grommet follow-up schedules must consider individualised approaches to address these inequities in outcomes.

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population

Objective To examine the clinical and genetic characteristics of childhood-onset bilateral sensorineural hearing loss (SNHL) in Finland. Design Retrospective analysis. Study sample A total of 249 children younger than 18 years were diagnosed with bilateral SNHL in Oulu University Hospital, Finland, from 2017 to 2022. Results Pathogenic or likely pathogenic gene variants or chromosome abnormalities explaining SNHL were identified in 41% (N = 101/249) of children. Likely causative variants were more commonly identified in patients with severe SNHL than in those with moderate or mild SNHL. Our study identified likely causative gene variants in 24 different genes and six different likely causative chromosome abnormalities, demonstrating the genetic heterogeneity of SNHL. Population-enriched founder mutations were identified in the CABP2, CLRN1, MYO7A, SUCLA2, TMC1, and TWNK genes. A significant number of patients had associated phenotypes, including global developmental delay or intellectual disability (16%), language disorder (20%), ophthalmological abnormalities (16%), or malformations other than those involving the ear (10%). Conclusions SNHL is genetically and clinically heterogeneous. Pathogenic variants in GJB2 were the most common. Several population-enriched variants were identified as causing SNHL in the northern Finnish population. Associated medical phenotypes are common and should be taken into account in patients’ follow-up and treatment.

Sensorineural hearing loss in post-COVID-19 patients

&lt;b&gt;Background: &lt;/b&gt;Hearing loss (HL) is one of the most common chronic conditions after hypertension and arthritis. Mounting indices suggest that sensorineural hearing loss (SNHL) may be one of the adverse effects of severe acute respiratory syndrome coronavirus 2.&lt;br /&gt; &lt;b&gt;Objective: &lt;/b&gt;This work aimed at studying SNHL in post-COVID-19 patients, alongside with exploring the relationship between severity of the disease and degree of hearing disability.&lt;br /&gt; &lt;b&gt;Materials and methods: &lt;/b&gt;This prospective cross-sectional study was conducted at Al-Azhar University Hospitals, Cairo, Egypt. It included 100 post-COVID-19 patients selected according to the study inclusion and exclusion criteria. Pure tone audiometry was done to confirm the presence of HL and to determine its degree.&lt;br /&gt; &lt;b&gt;Results: &lt;/b&gt;Hundred patients with recent oncent hearing symptoms after documented COVID-19 infection were included. Males (71%) were more affected than females (29%). The most of our cases had bilateral moderate HL (45%). Tinnitus was the most frequently associated otological symptom (96.96%). The time of HL onset varied from days to weeks (55% had time onset between 11-30 days post-confirmed infection). Higher thresholds were detected in all frequencies of affected ears with more deterioration of hearing as frequencies increase. All degrees of HL were detected; mild, moderate, severe and profound. There was no significant correlation between severity of COVID-19 infection and severity of HL.&lt;br /&gt; &lt;b&gt;Conclusions: &lt;/b&gt;SNHL is one of the extrapulmonary complications of COVID-19. COVID-19 patients may develop hearing affection regardless the severity of the infection. It is recommended to assess hearing functions in patients after COVID-19 for early detection and proper management.

Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity.

Cisplatin-induced ototoxicity (CIO), characterized by irreversible and progressive bilateral hearing loss, is a prevalent adverse effect of cisplatin chemotherapy. Alongside clinical risk factors, genetic variants contribute to CIO and genome-wide association studies (GWAS) have highlighted the polygenicity of this adverse drug reaction. Polygenic scores (PGS), which integrate information from multiple genetic variants across the genome, offer a promising tool for the identification of individuals who are at higher risk for CIO. Integrating large-scale hearing loss GWAS data with single cell omics data holds potential to overcome limitations related to small sample sizes associated with CIO studies, enabling the creation of PGSs to predict CIO risk. We utilized a large-scale hearing loss GWAS and murine inner ear single nuclei RNA-sequencing (snRNA-seq) data to develop two polygenic scores: a hearing loss PGS (PGSHL) and a biologically informed PGS for CIO (PGSCIO). The PGSCIO included only variants which mapped to genes that were differentially expressed within cochlear cells that showed differential abundance in the murine snRNA-seq data post-cisplatin treatment. Evaluation of the association of these PGSs with CIO in our target CIO cohort revealed that PGSCIO demonstrated superior performance (P = 5.54 × 10- 5) relative to PGSHL (P = 2.93 × 10- 3). PGSCIO was also associated with CIO in our test cohort (P = 0.04), while the PGSHL did not show a significant association with CIO (P = 0.52). This study developed the first PGS for CIO using a large-scale hearing loss dataset and a biologically informed filter generated from cisplatin-treated murine inner ear snRNA-seq data. This innovative approach offers new avenues for developing PGSs for pharmacogenomic traits, which could contribute to the implementation of tailored therapeutic interventions. Further, our approach facilitated the identification of specific cochlear cells that may play critical roles in CIO. These novel insights will guide future research aimed at developing targeted therapeutic strategies to prevent CIO.

Audiometric Profiles Across a Clinical Population of Children With Hyperacusis.

Hyperacusis (sound sensitivity) is well documented among adults, but little is known about hyperacusis in children. Here, we assess relationships among the presence of hyperacusis, audiometric profiles, and nonauditory factors in a pediatric clinical population. A retrospective review of clinical records from 329 children, ages 2-17 years, was performed to assess the prevalence of hyperacusis and correlations among hearing status, behavioral or communication concerns, and the presence of hyperacusis. In 329 study participants, 18% reported hyperacusis (58% male and 42% female). No significant sex or age differences were found. Hyperacusis was more likely to occur alongside normal hearing or with unilateral hearing loss relative to bilateral hearing loss. Among children with hyperacusis, there was a high prevalence of audiovestibular problems, mental health concerns, speech and language delays, difficulty in school, and behavioral problems. Tinnitus was also found to be comorbid with hyperacusis, but the comorbidity was less than that reported in adults. This study identified common hearing profiles and critical comorbidities in a large clinical cohort of children with hyperacusis. These results demonstrate the urgent need for standardized multidisciplinary assessment and treatment protocols for pediatric hyperacusis.

6415 Resistance to Thyroid Hormone -A Challenge to Manage

Abstract Disclosure: A. Altaf: None. F. Iqbal: None. E. Hamoudeh: None. C. Coyne: None. K. Anne: None. L. Buckley: None. Background: Resistance to thyroid hormone (RTH) or Refetoff syndrome was first introduced in 1967. It is an autosomal dominant or recessive genetic disease with a mutation in the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. The distinguishing biochemical feature of RTHβ is an elevated level of circulating free thyroid hormones with normal or high TSH concentration and decreased peripheral tissue response to thyroid hormone. Common signs and symptoms in patients with RTHβ are short stature, attention deficit disorder, and resting tachycardia and many patients might be asymptomatic. Case: We report a case of a 36-year-old patient with past medical history of congenital bilateral hearing loss, atrial fibrillation, CHF, and slow learning/comprehending who presented to the ER with shortness of breath and atrial fibrillation with tachycardia. Admission labs revealed elevated TSH 3.9, elevated fT4 3.28, and elevated TT3 205. He reported that for the past year, he has been on levothyroxine 50mcg for abnormal TSH. Levothyroxine was stopped and the patient was discharged on methimazole 10mg daily. Further workup revealed negative thyroglobulin and thyroid peroxidase antibodies. Thyroid ultrasound with Doppler demonstrated a mildly hypervascular thyroid gland without evidence of nodules. Brain MRI was negative for any pituitary abnormalities. HAMA testing continued to show elevated TSH. Patient was followed by cardiology and due to continued atrial fibrillation, had multiple cardioversions and was managed on a beta blocker. Due to his atrial fibrillation, endocrinology service continued his methimazole till his genetic testing came positive for an autosomal dominant heterozygous pathogenic mutation in THRB c.1373 T&amp;gt;C (p. Val458Ala). His thyroid hormones and TSH continue to be elevated. Currently, he is not on thyroid medication and getting monitored. The need for multiple cardioversions for atrial fibrillation in this patient makes resistance to thyroid hormone management challenging. Discussion: Hyperthyroidism is commonly mistaken for RTH. However, the lack of TSH suppression should be further investigated. Most patients with RTHβ are adequately compensated by the increased endogenous supply of thyroid hormone showing increased serum fT3 and fT4 levels and normal or near normal TSH levels. Beta Blockers like atenolol cannot inhibit the conversion of T4 to T3 and can be used for RTHβ with tachycardia. Triiodothyroaceticacid (TRIAC) or dextrothyroxine (DT4) have also been used to treat thyrotoxicosis. In summary, treatment for RTHβ remains a challenge for clinicians, especially in patients with atrial fibrillation and many patients are misdiagnosed and managed as hyperthyroidism. Presentation: 6/3/2024

Effect of Gestational Diabetes Mellitus on Newborn Hearing: A Systematic Review.

Gestational diabetes mellitus (GDM) is associated with several adverse health conditions in newborns such as preterm birth, hyperbilirubinemia, macrosomia, respiratory distress. However, the effect of GDM on the hearing sensitivity of newborns is still unclear. The study aimed to explore the effect of GDM on newborn hearing. The study aimed to explore the effect of GDM on newborn hearing. A systematic search was conducted using PubMed, Scopus, and CHINAL databases. Keywords like "gestational diabetes," "diabetic pregnancies," "hearing loss," "hearing impairment," and "hearing disorder" were used to form a search string. The Rayyan software was used for screening procedure. The full-length articles were shortlisted, extracted, and appraised. The 7 articles were included in the review. Findings suggest that hearing loss is more prevalent in newborns with GDM pregnancies than in non-GDM pregnancies. In addition, OAE findings were "referred during the first hearing screening of newborns with GDM pregnancies." The refer rate of the first bilateral hearing screening was higher for newborns with GDM pregnancies. Furthermore, children of diabetic pregnancies were found to be at risk of bilateral hearing loss, particularly sensorineural in nature. The present systematic review suggests an association between GDM and a higher refer rate in hearing screening. A multidisciplinary collaboration between gynecologists, pediatricians, and audiologists can smoothen the early detection of hearing loss in newborns with GDM pregnancies, leading to early intervention and better clinical outcomes to improve the quality of life of affected newborns.

The influence of occupational noise exposure on blood pressure and hearing loss among female workers of childbearing age

ObjectivesWomen exposed to occupational noise experience adverse pregnancy outcomes. Therefore, we initiated a large, population-based, cross-sectional study to further investigate the effects of occupational noise on hearing and blood pressure among female workers of childbearing age.Study design and settingA total of 6981 childbearing-aged female workers were selected for this cross-sectional study. Basic characteristics of participants were analyzed by comparing the exposed and control groups. Logistic regression models were employed to calculate the odds ratios (ORs) and 95% confidences intervals (CIs) for the associations of occupational noise with levels of hearing loss and blood pressure. The associations were further explored through stratification by age and duration of noise exposure.ResultsCompared with participants not exposed to occupational noise, increasing years of occupational noise exposure were independently associated with an elevated risk of hypertension after adjustment of age, industry classification, enterprise size and economic type. Compared to participants not exposed to occupational noise, only the prevalence of bilateral hearing loss was significantly higher after adjustments for age, industry classification, enterprise size and economic type. Compared with those with normal hearing, the ORs and 95% CIs were 1.97 (0.95–4.07), 2.22 (1.05–4.68) and 1.29 (1.06–1.57) for bilateral, unilateral and any ear hearing loss, respectively.ConclusionsOccupational noise exposure is positively associated with both hypertension and bilateral hearing loss among female workers of childbearing age. Those exposed to occupational noise show an increased risk of hypertension after adjusting for potential confounders.

Prevalence of and Risk Factors for Hearing Impairment in Craniofacial Microsomia

BackgroundWhile ear anomalies and hearing impairment are common in patients with craniofacial microsomia (CFM), their prevalence, characteristics, and relationship to speech-language development remain unclear. PurposeThis study analyzed the prevalence and risk factors for hearing impairment in patients with CFM. Study Design, Setting, SampleThis retrospective cohort study included patients with unilateral or bilateral CFM from a single center between January 1980 and July 2023 who had evidence of a hearing assessment at <18 years. Exclusion criteria were inconclusive CFM diagnosis by clinical examination and/or radiographs or incomplete medical records. Predictor VariablesThe predictor variables included presence or absence of cleft lip and/or palate, laterality of CFM, and external ear and mandibular anomaly scores measured using the Orbit, Mandible, Ear, Nerve, and Soft Tissue (OMENS) and Pruzansky-Kaban classifications. Main Outcome VariablesPrimary outcome variable was hearing impairment, measured through air and bone conduction audiometry and categorized by type, severity, and side. Secondary outcome variable was speech-language delay, evaluated through assessments of expressive and receptive language skills, vocabulary, speech intelligibility, general articulation, and phonological speech. CovariatesThe covariates included sex and age at first hearing assessment. AnalysesLogistic regression models were used to analyze the effect of predictors on outcomes. P-value <0.05 was considered significant. ResultsThe sample included 213 patients (61.5% male). Hearing assessments were performed at a mean age of 4.6 ± 4.8 years. Hearing impairment was found in 183 (85.9%) and was predominantly conductive (n=130, 91.5%). Of subjects with hearing impairment, 158 (86.3%) had external ear anomalies (P<0.001). In patients with unilateral CFM, 38 (21.8%) had bilateral hearing loss and 9 (5.2%) had contralateral-only hearing loss. Both M3 and E3 scores were associated with the presence and severity of hearing loss (P=0.01 and P<0.001, respectively). There was no significant association between hearing impairment and speech-language development (P>0.05). Conclusion and RelevanceAlthough the severity of mandibular and external ear anomalies was significantly associated with the prevalence and severity of hearing loss, clinicians should remain alert for concomitant or isolated contralateral hearing loss, given the high prevalence of hearing loss in ears without ipsilateral facial involvement or external abnormalities.

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate. Objective To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments. Methods The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR). Results In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) - 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%). Conclusion Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.

Outcome Evaluation of BAHA Attract System Implantations.

Bone Anchored Hearing Aids (BAHAs) are currently well-utilized for treatment of hearing-impaired patients with unilateral or bilateral mixed and conductive hearing loss as well as patients with single sided deafness. The objective of this study is to evaluate outcome of BAHA Attract system in terms of surgical, functional,audiological and cosmetic results This is a prospective observational study of 15 consecutive patients of single sided deafness (SSD) who qualified for and underwent BAHA Attract surgery at a tertiary care hospital over a duration of two years. Parameters analysed were: (1) Surgery and wound healing, (2) Post-operative functional results (Bern Benefit for Single sided deafness questionnaire (BBSSQ)), (3) audiological results (free field speech in noise audiometry in two situations: with signal from implanted side and from contralateral side), (4) Cosmetic results (introduction of novel Three Points Scoring System (TPSS). Clinico-radiological planning of surgical site for implant is also described.Mean surgical time was 39 minutes and healing was uneventful in 73 % of patients. All patients reported improvement in all ten hearing situations with maximum improvement for sound localization. Significant improvement of speech in noise was seen especially when signal was presented from implanted side. All patient had full score in TPSS for cosmesis except one patient. This was the same patient in whom clinico-radiologically planned site was discarded intraoperatively due to overpneumatised temporal bone.BAHA Attract system is safeand effective solution for single sided deafness with acceptable cosmesis.

A Unique Presentation of Fabry Disease with Progressive Bilateral Hearing Loss

A Unique Presentation of Fabry Disease with Progressive Bilateral Hearing Loss

Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.

Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1. An observational retrospective study of the m.1555A>G mutation was conducted in patients with suspected hereditary bilateral sensorineural hearing loss in the Department of Otolaryngology of the Marqués de Valdecilla University Hospital (Cantabria, Spain) and in 100 controls with normal hearing. The m.1555A>G mutation was found in 82 individuals from 20 different families and in none of the controls. Variable degrees of hearing loss were observed, ranging from normal hearing to profound deafness. Patients with a history of streptomycin administration exhibited significantly more pronounced hearing loss. The onset of hearing loss occurred from childhood to adulthood, with progression or stability over the years. No associated vestibular alterations or other clinical manifestations outside the ear were found. Two cochlear implant recipients showed significant improvement in speech comprehension. Patients with the m.1555A>G mutation in the MTRNR1 gene often develop bilateral, symmetric sensorineural hearing loss, predominantly affecting high frequencies, worsened by streptomycin administration. This mutation does not affect the vestibular function. The variability in the severity of hearing loss, the heterogeneity of phenotypic expression, and the presence of carrier individuals with normal hearing may indicate the existence of modifying factors, both environmental and genetic. Cochlear implantees showed a good response in terms of speech intelligibility. Genetic testing for this mutation is recommended in patients with a family history of hearing loss to prevent the use of aminoglycosides if the mutation is found. 4 Laryngoscope, 2024.

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family

BackgroundUsher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene.ObjectTo evaluate the genotype-phenotype correlation of Usher syndrome type 3 (USH3) in a deaf-blind Chinese family of 3 generations with 2 patients.MethodsWe collected blood samples and clinical data from all of the pedigree family members. Genomic DNA was isolated from peripheral leukocytes using standard method. Targeted next generation sequencing and Sanger sequencing were performed to find the pathogenic variants in this family. Digital PCR and plasmid overexpression assay were used to verify the pathogenicity of variant sites in different transcripts.ResultsAll patients developed bilateral sensorineural hearing loss (SHL), progressive vision loss and nyctalopia. NGS of genes for Usher syndrome, deafness and retinal dystrophy identified a locus mutation in CLRN1 that caused completely different amino acid changes in different transcripts[CLRN1:c.474T > A(P.Cys158Ter) at NM_001256819.2 or c.302T > A(p.Val101Asp) at NM_174878.3], and plasmid overexpression experiments confirmed that the c.474T > A(P.Cys158Ter, NM_001256819.2) was a pathogenic variant which has never been associated with Usher syndrome in China, and the transcript of this mutation was not the version commonly found worldwide.ConclusionsThe CLRN1c.474T > A(NM_001256819.2) mutation is the causative variant in the Chinese family with USH3. The pathogenicity of different transcripts should be particularly considered in pathogenicity analysis.

Role of Newborn Hearing Screening Done Over One Year in a Tertiary Care Hospital: A Cross-Sectional Study.

Newborn hearing screening (NHS) is universally acknowledged as a critical early intervention to prevent adverse developmental outcomes caused by undetected hearing loss. Despite its proven benefits, the implementation of NHS varies, especially in tertiary care hospitals that manage high-risk neonates. This study investigates the effectiveness and implementation of NHS protocols in these settings. This cross-sectional study was conducted in the Department of Neonatology at Saveetha Medical College, Chennai. All newborns delivered between January 2023 and December 2023 were included. Screening involved initial otoacoustic emissions (OAEs) tests, automated auditory brainstem response (AABR) followed by brainstem evoked response audiometry (BERA) for those who failed.Data on demographic characteristics, screening results, and follow-up compliance were collected and analyzed. A total of 1,398 neonates were screened. Initial screeningresulted in 416 (29.7%) referrals. Follow-up screenings showed high compliance rates, with significant detections of hearing impairments through BERA. The screening was completed for 1,341 babies. Fifty-five babies were lost to follow-up. Of these, 2 babies (0.1%) with a high risk for hearing loss were diagnosed with bilateral severe hearing loss. The study also noted demographic factors such as kinship and obstetric history that might influence hearing loss risks. NHS plays a vital role in the early detection and management of hearing impairments, which is crucial for preventing negative impacts on a child's development. This study advocates for the systematic implementation of NHS protocols in all tertiary care hospitals, especially those serving high-risk neonates, to ensure optimal developmental outcomes.

Audiological Findings in Children with Upper Respiratory Tract Infections in Children (1 to 12 years)

Background: Upper respiratory tract infections (URTIs) are common in children and can lead to audiological complications, including hearing loss. Understanding the prevalence and nature of these complications is crucial for early intervention.Objective: To determine the audiological findings in children aged 1 to 12 years with upper respiratory tract infections.Methods: A cross-sectional observational study was conducted at the University of Lahore Teaching Hospital and Children's Hospital &amp; The Institute of Child Health, Lahore, over six months (July 2023 to December 2023). A total of 82 children with URTIs were assessed using otoscopy, tympanometry, and pure tone audiometry. Non-probability purposive sampling was used, and data were analyzed using SPSS version 27.0. Ethical approval was obtained, and informed consent was collected from parents.Results: Among the 82 children, 75.6% had bilateral hearing loss, 61.0% had a Type B tympanogram, and 43.9% had conductive hearing loss. Mild to moderate hearing loss was observed in 58.5% of the children, while 18.3% reported tinnitus.Conclusion: The study found a high prevalence of conductive hearing loss among children with URTIs, emphasizing the need for early audiological evaluation and management.