[Improving Social Participation through Cochlear Implants for Hearing Impaired Persons? On the Ambivalence of Human-Machine-Interaction and the Importance of Psycho-Social Support]. / Mehr soziale Teilhabe für Hörgeschädigte durch Cochlea-Implantate? Zur Ambivalenz der Mensch-Maschine-Interaktion und zum Stellenwert psycho-sozialer Begleitung.

AIM OF THE STUDY: Cochlea implants help persons that suffer from deafness over time to regain hearing capacity. However, persons with CI implants experience year-long processes of adapting to technology-assisted hearing. The study highlights how people experience those processes and how they deal with changing expectations. METHODS: Within this qualitative study, 50 cochlear implant recipients were interviewed about their personal experiences with the supplying clinics. 30 persons were recruited through self-help groups; another 20 persons were recruited through a learning center for hearing-impaired persons. They were asked about their experiences in social, cultural and professional participation as well as hearing barriers they still face in everyday life after their CI fitting. Participants had been wearing CI devices for a maximum of three years. This is a timeframe when most subsequent therapies have ended. Also, the initial phase of learning to handle the CI is supposed to be over. RESULTS: The study shows that even with a cochlear implant communication barriers remain. People's expectations are not met when complete comprehension of listening during conversations is not achieved. Difficulties in dealing with a high-tech hearing prosthesis and experiencing a "foreign body" are obstacles that lower acceptance of CI. CONCLUSION: Counselling and support preparing the use of cochlea implants should be guided by realistic goals and expectations. Guided training and communication courses can help, including local care such as certified hearing aid acousticians. Those elements can increase quality and reduce uncertainty.

Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation.

OBJECTIVE: To determine the relationship between hearing loss etiology, cochlear implant (CI) programming levels, and speech perception performance in a large clinical cohort of pediatric CI recipients. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary care hospitals. PATIENTS: A total of 136 pediatric CI recipients (218 ears) were included in this study. All patients had diagnoses of either enlarged vestibular aqueduct (EVA) or GJB2 (Connexin-26) mutation confirmed via radiographic data and/or genetic reports. All patients received audiologic care at either Boston Children's Hospital or Massachusetts Eye and Ear in Boston, MA, between the years 1999 and 2020. MAIN OUTCOME MEASURES: Electrode impedances and programming levels for each active electrode and speech perception scores were evaluated as a function of etiology (EVA or GJB2 mutation). RESULTS: Children with EVA had significantly higher impedances and programming levels (thresholds and upper stimulation levels) than the children with GJB2 mutation. Speech perception scores did not differ as a function of etiology in this sample; rather, they were positively correlated with duration of CI experience (time since implantation). CONCLUSIONS: Differences in electrode impedances and CI programming levels suggest that the electrode-neuron interface varies systematically as a function of hearing loss etiology in pediatric CI recipients with EVA and those with GJB2 mutation. Time with the CI was a better predictor of speech perception scores than etiology, suggesting that children can adapt to CI stimulation with experience.

Cochlear Implantation for Rudimentary Otocysts: Two Case Reports.

OBJECTIVE: Rudimentary otocyst (RO) is characterized by an otic capsule without an internal auditory canal, which is considered a contraindication to cochlear implantation (CI). In this study, we were the first to report two patients with ROs who underwent CI. PATIENT: Two patients (18 months old and 2 years old) presenting with bilateral congenital hearing loss were diagnosed with ROs. INTERVENTION: CI was performed. The transmastoid slotted labyrinthotomy approach was used with customized MED-EL electrode arrays. MAIN OUTCOME MEASURES: Categorical auditory performance, infant-toddler meaningful auditory integration of sound, the speech intelligibility rating, and meaningful use of speech scale. RESULTS: Both children could understand common phrases and had intelligible, connected speech 2 years after CI. CONCLUSION: With proper indication, surgical approach and postoperative training, a child with an RO may benefit from CI.

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.

Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations. Owing to the homozygous lethality of Gjb2 mutations in mice, there are currently no perfect mouse models carrying Gjb2 mutations derived from patients for mimicking human hereditary deafness and for unveiling the pathogenesis of the disease. Here, we successfully constructed heterozygous Gjb2+/35delG and Gjb2+/235delC mutant mice through advanced androgenic haploid embryonic stem cell (AG-haESC)-mediated semi-cloning technology, and these mice showed normal hearing at postnatal day (P) 28. A homozygous mutant mouse model, Gjb235delG/35delG, was then generated using enhanced tetraploid embryo complementation, demonstrating that GJB2 plays an indispensable role in mouse placenta development. These mice exhibited profound hearing loss similar to human patients at P14, i.e., soon after the onset of hearing. Mechanistic analyses showed that Gjb2 35delG disrupts the function and formation of intercellular gap junction channels of the cochlea rather than affecting the survival and function of hair cells. Collectively, our study provides ideal mouse models for understanding the pathogenic mechanism of DFNB1A-related hereditary deafness and opens up a new avenue for investigating the treatment of this disease.

Intra-operative identification of a temporal bone fracture line during cochlear implant surgery: a case report.

BACKGROUND: Temporal bone fractures are divided into otic capsule sparing and otic capsule involving fractures. In the latter, hearing loss, facial nerve paralysis, cerebrospinal fluid leak and meningitis have been reported to occur. The impact of hearing loss can be devastating, especially when occurring in children, with significant risk to speech development and sound localization. In the event of hearing loss, early rehabilitation is therefore of paramount importance. Identification of an intra-operative fracture line with available images and the outcome of such cases has not been reported. CASE PRESENTATION: We present the case of a 31-month-old male with an otic capsule involving temporal bone fracture, who presented with ipsilateral profound hearing loss. After all required work-up had been performed, he was admitted for a cochlear implant insertion. Per- operatively, a clear fracture line was seen at the round window niche, but a normal insertion was performed despite the anticipated potential ossification at the fracture line. The dreaded complications of cerebrospinal fluid otorrhea or non-auditory stimulation post-implant did not occur. The peculiarity of this case was its rarity, which was demonstrated by clear images that showed the fracture line on preoperative imaging and intraoperatively. CONCLUSION: Cochlear implantation in the presence of a visible fracture line is feasible and the surgical procedure must not be aborted at its discovery. In these cases, post-operative bacterial meningitis can occur and should be treated aggressively with systemic antibiotics to avoid contralateral ossification of the labyrinth due to labyrinthitis.

Hearing and Cognition in Childhood. / Hören und Kognition im Kindesalter.

The human brain shows extensive development of the cerebral cortex after birth. This is extensively altered by the absence of auditory input: the development of cortical synapses in the auditory system is delayed and their degradation is increased. Recent work shows that the synapses responsible for corticocortical processing of stimuli and their embedding into multisensory interactions and cognition are particularly affected. Since the brain is heavily reciprocally interconnected, inborn deafness manifests not only in deficits in auditory processing, but also in cognitive (non-auditory) functions that are affected differently between individuals. It requires individualized approaches in therapy of deafness in childhood.

[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].

OBJECTIVE: To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases. METHODS: A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). RESULTS: Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%). CONCLUSION: Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.

[Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].

OBJECTIVE: To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS). METHODS: Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. CONCLUSION: By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.

Large-scale electrophysiology and deep learning reveal distorted neural signal dynamics after hearing loss.

Listeners with hearing loss often struggle to understand speech in noise, even with a hearing aid. To better understand the auditory processing deficits that underlie this problem, we made large-scale brain recordings from gerbils, a common animal model for human hearing, while presenting a large database of speech and noise sounds. We first used manifold learning to identify the neural subspace in which speech is encoded and found that it is low-dimensional and that the dynamics within it are profoundly distorted by hearing loss. We then trained a deep neural network (DNN) to replicate the neural coding of speech with and without hearing loss and analyzed the underlying network dynamics. We found that hearing loss primarily impacts spectral processing, creating nonlinear distortions in cross-frequency interactions that result in a hypersensitivity to background noise that persists even after amplification with a hearing aid. Our results identify a new focus for efforts to design improved hearing aids and demonstrate the power of DNNs as a tool for the study of central brain structures.

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.

BACKGROUND: Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. Although prevalent, hearing loss is extremely heterogeneous and poses a pitfall in terms of diagnosis and screening. Using next-generation sequencing has enabled a rapid increase in the identification rate of genes and variants in heterogeneous conditions, including hearing loss. We aimed to identify the causative variants in two consanguineous Yemeni families affected with hearing loss using targeted next-generation sequencing (clinical exome sequencing). The proband of each family was presented with sensorineural hearing loss as indicated by pure-tone audiometry results. RESULTS: We explored variants obtained from both families, and our analyses collectively revealed the presence and segregation of two novel loss-of-function variants: a frameshift variant, c.6347delA in MYO15A in Family I, and a splice site variant, c.5292-2A > C, in OTOF in Family II. Sanger sequencing and PCR-RFLP of DNA samples from 130 deaf and 50 control individuals confirmed that neither variant was present in our in-house database. In silico analyses predicted that each variant has a pathogenic effect on the corresponding protein. CONCLUSIONS: We describe two novel loss-of-function variants in MYO15A and OTOF that cause autosomal recessive non-syndromic hearing loss in Yemeni families. Our findings are consistent with previously reported pathogenic variants in the MYO15A and OTOF genes in Middle Eastern individuals and suggest their implication in hearing loss.

Prevalence of hearing loss in COVID-19 patients: a systematic review and meta-analysis.

BACKGROUND AND OBJECTIVE: 'Hearing loss' has been reported as a clinical atypical symptom in some COVID-19 patients. We searched and collated the existing literature for a systematic review and meta-analysis to assess the prevalence of hearing loss during the COVID-19 epidemic. METHODS: An exhaustive search of the PubMed, Embase, Web of Science, China National Knowledge Infrastructure and other sources from the inception of the database until 31st December 2022. The Search terms were set to: 'COVID-19', 'SARS-CoV-2', '2019-nCoV', 'hearing impairment', 'hearing loss', 'auditory dysfunction'. The literature data meeting the inclusion criteria were extracted and analyzed. Prevalence was pooled from individual studies using a randomized effects meta-analysis. RESULTS: A total of 22 studies were included in the final analysis, involving 14281 patients with COVID-19 infection, of which 482 patients had varying degrees of hearing loss. Our final meta-analysis demonstrated that the prevalence of hearing loss in COVID-19-positive patients was 8.2% (95%CI 5.0-12.1). Subgroup analysis of age showed that the prevalence of middle-aged and older patients aged 50-60 and over 60 years was 20.6% and 14.8%, respectively, which was significantly higher than that of patients aged 30-40 (4.9%) and 40-50 years (6.0%). CONCLUSION: Hearing loss is one of the clinical symptoms of COVID-19 infection, compared with other diseases, it is less likely to attract the attention of clinical experts or researchers. Raising awareness of this disease can not only enable early diagnosis and treatment of hearing loss, and improve the quality of life of patients, but also enhance our vigilance against virus transmission, which has important clinical and practical significance.

Correlation between grading methods of the cochlear endolymphatic hydrops and hearing loss in meniere's disease using three-dimensional real inversion recovery sequences.

BACKGROUND: The grading of intracochlear endolymphatic hydrops (EH) in Meniere's disease (MD) varies and lacks uniformity. AIMS: To compare the grading consistency and correlation between different grade methods of intracochlear EH and hearing loss. MATERIALS AND METHODS: Thirty-one patients diagnosed with MD underwent gadolinium-enhanced magnetic resonance imaging. Two radiologists graded the cochlea EH according to M1, M2, M3, or M4. We analysed the grading consistency and correlation between the EH degrees and hearing loss. RESULTS: The weighted kappa coefficients for inter-observer and intra-observer agreements for grading using M1 were good, whereas those for M2, M3, and M4 are excellent (all p < 0.001). The cochlear EH degree based on M2 was correlated with the low-to-mid frequencies, high frequencies, full frequencies, and MD clinical stage (all p < 0.05). The degrees based on M1, M3, M4 were only relevant to some of the 4 items. CONCLUSIONS: The grading consistency of M2, M3, M4 is relatively higher than that of M1, and M2 shows the strongest correlation with hearing loss. SIGNIFICANCE: Our results provide a more accurate method for assessing the clinical severity of MD.

Distributional learning of musical pitch despite tone deafness in individuals with congenital amusia.

Congenital amusia is an innate and lifelong deficit of music processing. This study investigated whether adult listeners with amusia were still able to learn pitch-related musical chords based on stimulus frequency of statistical distribution, i.e., via distributional learning. Following a pretest-training-posttest design, 18 amusics and 19 typical, musically intact listeners were assigned to bimodal and unimodal conditions that differed in distribution of the stimuli. Participants' task was to discriminate chord minimal pairs, which were transposed to a novel microtonal scale. Accuracy rates for each test session were collected and compared between the two groups using generalized mixed-effects models. Results showed that amusics were less accurate than typical listeners at all comparisons, thus corroborating previous findings. Importantly, amusics-like typical listeners-demonstrated perceptual gains from pretest to posttest in the bimodal condition (but not the unimodal condition). The findings reveal that amusics' distributional learning of music remains largely preserved despite their deficient music processing. Implications of the results for statistical learning and intervention programs to mitigate amusia are discussed.

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates from fibroblasts from an affected individual and an unaffected control. Pathogenic variants in known disease genes associated with hearing loss and peripheral neuropathy were excluded. A homozygous frameshift variant in the BICD1 gene, c.1683dup (p.(Arg562Thrfs*18)), was identified in the proband and segregated with hearing loss and peripheral neuropathy in the family. The BIDC1 RNA analysis from patient fibroblasts showed a modest reduction in gene transcripts compared to the controls. In contrast, protein could not be detected in fibroblasts from a homozygous c.1683dup individual, whereas BICD1 was detected in an unaffected individual. Our findings indicate that bi-allelic loss-of-function variants in BICD1 are associated with hearing loss and peripheral neuropathy. Definitive evidence that bi-allelic loss-of-function variants in BICD1 cause peripheral neuropathy and hearing loss will require the identification of other families and individuals with similar variants with the same phenotype.

Effectiveness and costs of a low-threshold hearing screening programme (HörGeist) for individuals with intellectual disabilities: protocol for a screening study.

INTRODUCTION: Individuals with intellectual disabilities (ID) often suffer from hearing loss, in most cases undiagnosed or inappropriately treated. The implementation of a programme of systematic hearing screening, diagnostics, therapy initiation or allocation and long-term monitoring within the living environments of individuals with ID (nurseries, schools, workshops, homes), therefore, seems beneficial. METHODS AND ANALYSIS: The study aims to assess the effectiveness and costs of a low-threshold screening programme for individuals with ID. Within this programme 1050 individuals with ID of all ages will undergo hearing screening and an immediate reference diagnosis in their living environment (outreach cohort). The recruitment of participants in the outreach group will take place within 158 institutions, for example, schools, kindergartens and places of living or work. If an individual fails the screening assessment, subsequent full audiometric diagnostics will follow and, if hearing loss is confirmed, initiation of therapy or referral to and monitoring of such therapy. A control cohort of 141 participants will receive an invitation from their health insurance provider via their family for the same procedure but within a clinic (clinical cohort). A second screening measurement will be performed with both cohorts 1 year later and the previous therapy outcome will be checked. It is hypothesised that this programme leads to a relevant reduction in the number of untreated or inadequately treated cases of hearing loss and strengthens the communication skills of the newly or better-treated individuals. Secondary outcomes include the age-dependent prevalence of hearing loss in individuals with ID, the costs associated with this programme, cost of illness before-and-after enrolment and modelling of the programme's cost-effectiveness compared with regular care. ETHICS AND DISSEMINATION: The study has been approved by the Institutional Ethics Review Board of the Medical Association of Westphalia-Lippe and the University of Münster (No. 2020-843 f-S). Participants or guardians will provide written informed consent. Findings will be disseminated through presentations, peer-reviewed journals and conferences. TRIAL REGISTRATION NUMBER: DRKS00024804.

A randomized controlled trial evaluating the effects of motivational interviewing in new hearing aid users (MI-HAT): study protocol for a randomized controlled trial.

BACKGROUND: Hearing loss is the third leading global cause of disability and is associated with poorer quality of life. Hearing aids are often recommended for hearing loss; however, hearing aid uptake and use rates are perpetually low. Motivational interviewing (MI) is a patient-centered counseling aimed at addressing the desire in the patient to change their behavior. The aim of this study is to investigate the impact of one-on-one MI sessions on hearing aid use among new adult users. METHODS: A multi-center, prospective, randomized patient-blind controlled trial with a pre- and post-tests design. New hearing aid users ≥ 18 years of age will be recruited from Vancouver, Canada. They will be randomly assigned to a treatment or control group. The treatment group will attend a one-on-one MI session hosted by a practicing MI therapist in addition to standard in-person audiological care. The control group will receive standard in-person audiological care. Data is collected at baseline and at 1, 3, 6, and 12 months' follow-ups. The primary outcomes are data-logged hearing aid use hours and patient-reported outcomes as measured by the International Outcome Inventory for Hearing Aids questionnaire. Associations between intervention and hearing aid use hours and self-reported outcome measures will be assessed. DISCUSSION: This trial is designed to evaluate the efficacy of one-on-one MI in improving hearing aid use in new adult users in the short and long terms. Results will contribute to the evidence on whether MI counseling has an effect on hearing aid use and may guide future clinical practices. TRIAL REGISTRATION: ClinicalTrials.gov NCT04673565 . Registered on 17 December 2020.

[Hearing rehabilitation in postmeningitis deafness in the context of the time factor]. / Agyhártyagyulladás okozta súlyos fokú sensorineuralis halláscsökkenés rehabilitációs esélyei az idofaktor tekintetében.

INTRODUCTION: Postmeningitis deafness appears in 0-11% of the meningitis cases. Cochlear ossification can develop in these patients, which may make the hearing rehabilitation impossible with cochlear implantation. Due to ossification, it is critical to refer patients to the implant centre without any delay. OBJECTIVE: The aim of this study was to examine the time factor between the appearance of deafness and the first examination in a cochlear implant centre, the possibilities and effectivity of hearing rehabilitation. METHOD: In our tertial referral centre, postmeningitis deafened patients were examined between 2014 and 2022 retrospectively. Hearing results, imaging, possibilities of rehabilitation, complications of cochlear implantations and the hearing results were investigated. RESULTS: 8 patients (3 children, 5 adults) were investigated. The time between the start of deafness and the first appearance varied between 3 weeks to 9 years. Bilateral profound hearing loss was measured in all patients. In 6 cases, cochlear ossification was observed (4 patients bilateral). Cochlear implantation was conducted in 5 patients (4 bilateral, 1 unilateral). In 3 cases, implantation was impossible due to severe ossification. Hearing results showed good hearing levels with poor speech perception in all cases. DISCUSSION: The rehabilitation of severe hearing loss caused by meningitis can present many challenges to clinicians. A critical point in the care is the urgent referral of patients to a cochlear implantation centre as soon as possible after the life-threatening condition has passed. The implementation of further diagnostic and the earliest possible implantation is the responsibility of the implantation centre itself. CONCLUSION: It is recommended to develop a new protocol with the involvement of allied professions to clear patient pathways for an effective treatment strategy. Orv Hetil. 2023; 164(19): 729-738.

Association between hearing loss and deprivation among Welsh adults: a cross-sectional observational study.

OBJECTIVE: To index levels of hearing loss with respect to area-level indices of deprivation in a Welsh population. DESIGN: A cross-sectional observational study of all adults (aged >18) that attended Abertawe Bro Morgannwg University (ABMU) Health Board audiology services between 2016 and 2018. Service access, first hearing aid fitting appointment rates and hearing loss at time of first hearing aid provision were used to index population hearing loss versus area-level indices of deprivation based on patient postcode. SETTING: Primary and secondary care. PARTICIPANTS: 59 493 patient entries met the inclusion criteria. Patient entries were grouped by age (18-30, 31-40, 41-50, 51-60, 61-70, 71-80, >80 years) and deprivation decile. RESULTS: The interaction between age group and deprivation decile predicted access rate to ABMU audiology services (b=-0.24, t(6858) = -2.86, p<0.01) with audiology services accessed more frequently by the most deprived versus the least deprived decile in every age group (p<0.05), except the >80 years. First hearing aid fitting rates were highest among the most deprived in the four youngest age groups (p<0.05). Severity of hearing loss at the time of first hearing aid fitting was worse among the most deprived in the five oldest age groups (p<0.01). CONCLUSIONS: Hearing health inequalities are prevalent among adults accessing ABMU audiology services. Our findings suggest that deprivation increases the likelihood of developing hearing loss, brings earlier onset of hearing loss and is linked to delays in getting help for hearing problems. However, it is not possible to know the true scale of these disparities without knowing the hearing health of the Welsh adult population including those who do not seek help for hearing problems.

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

OBJECTIVES: Hearing loss is one of the most common heterogeneous complicated disorders worldwide. We previously analyzed the results of published data on non-syndromic hearing loss in the Iranian population systematically. A broad range of genes is a challenge for molecular screening and clinical diagnosis in our populations on the ground of distinct genetics. The aim of this study was to analyze the role and frequency of the variants accountable for non-syndromic hearing loss (NSHL) in the Iranian population. These were identified with different methods including whole exome sequencing (WES), next-generation sequencing (NGS), targeted genomic enrichment and massively parallel sequencing (TGE + MPS), autozygosity mapping, STR markers, linkage analysis, and direct sequencing. This is the comprehensively study focusing on classifying 13 common NSHL genes according to their frequencies. Previous studies have not studied different regions and the Iranian population, and this is the definitive study on the topic. METHODS: We searched Scopus, PubMed, Science Direct databases, and Google Scholar. After a systematic review of the evidence 95 studies were considered then 31 studies were eligible for meta-analysis. In total, 6995 families, 358 variants, and 117 novel variants were included. Statistical analyses were conducted using Stata SE version 11 software. The inverse variance method enjoyed combining data. Heterogeneity of the preliminary results was assessed using Q (Cochrane test), and I square index. Random effects or fixed models were applied to combine the results, relying on the degree of heterogeneity. Point and pooled prevalence of variants acting on different regions were illustrated by forest plots. RESULTS: The total prevalence of at least one variant of GJB2 and SLC26A genes was estimated at 26% and 5%, respectively. Variant c.35delG accounted for 18% of the GJB2 variants while 1% of these variants were novel ones. The next most common variants in the GJB2 gene were c.109G>A at 3.5% and c.-23+1G>A at 2.3%. Moreover, the prevalence of GJB2 gene variants varied on average 0.002% from one region to another in Iran (p=0.849). Our meta-analysis also showed that the frequency of at least one variant of MYO15A varied between 1.2% and 12.5%. Corresponding prevalences for the other variants were as follows: ILDR1 (3.5%-3.7%), CDH23 (2%-10%), PJVK (1.4%-33%), TECTA (1.3%-6.7%), MYO6 (2%-4.8%), TMC1 (1.8%-2%), MYO7A (0.7%-5%), MARVELD2 (0.7-5%), OTOF (0.7%-4%), LRTOMT (0.7%-2.5%). Finally, we did not find any relationship between geographic area and the presence of these variants. CONCLUSION: GJB2 gene variants were the most common cause of NSHL in Iran. Understanding the prevalence of NSHL gene frequency in Iran may be the foundation for future studies in an Iranian population which may lead to future NSHL therapy.

Systematic Hearing Performance Evaluation Process for Adolescents with Cochlear Implantation at Early Ages.

Cochlear implant (CI) provision is the most effective clinical treatment to restore hearing performance in individuals with profound sensorineural hearing loss (SNHL). It has been successful in providing improved speech perception outcomes, especially in quiet environments. However, speech perception performance within complex environments, lexical tone recognition, and music perception have been shown to only improve with newer fine structure coding strategies or related techniques. Therefore, the methods used to assess hearing performance in noisy environments, lexical tone recognition, and music perception are of vital importance. These assessments must reflect the postoperative outcomes and also provide guidance for the programming, rehabilitation, and application of new coding strategies. In this study, hearing performance in simple and complex situations was evaluated before and after upgrading to a fine structure strategy. The participants were a cohort of Mandarin-speaking adolescents, who were experienced CI users. The comprehensive clinical workflow involved assessments of speech in quiet conditions, speech in noisy conditions, lexical tone recognition, and music perception. This battery of tests is explained in detail, from the coding strategy to the test methods, including the test process, environment, device, material, and order. The details that require special attention are discussed, such as the position of the participants, the angle of the loudspeaker, the intensity of the sound, the noise type, the practice test, and the way of answering questions. Each test step, method, and material for speech, lexical tone, and music perception is presented in detail. Finally, the clinical results are discussed.