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Abstract Background More than 90% of deaf children are born to hearing families who know little about deafness. Benefits from hearing screening at birth are often lost, as families find little information about pathways for deaf children but are key to ensuring deaf children receive relevant language and communication support. Systems surrounding deaf children and family members are crucial for children's health and social development. Experiences of hearing parents raising deaf children and understanding factors that influence families' experience of navigating pathways for deaf children through health and education services are currently underreported. Methods An exploratory study was conducted in Wales, UK. Twenty participants were interviewed, including 10 hearing parents of deaf children and 10 people who work with deaf children using semistructured interviews. Bronfenbrenner's ecological systems theory was used as a lens to explore the micro‐, meso‐, exo‐, macro‐ and chronosystems that surround children and families. This study explores potential supports and barriers in those systems. Findings Findings are reported under two broad headings: enablers and barriers. Under enablers, it was found that provision of resources, supporting people and knowledge were key factors. Under barriers, a lack of knowledge, lack of provision and battling services and attitudes were key issues that need addressing. Conclusion Hearing parents of deaf children in Wales, UK reported experiencing a range of enablers and barriers that impact upon their experiences of raising a deaf child. Further provision is needed by policymakers and governments to recognise support needs to improve the outcomes for deaf children. Patient or Public Contribution This project was developed from initial discussions with the stakeholder reference group and progressed with the group's deaf panel and hearing parents with deaf children. The project's steering group was involved in study design, recruitment and continuous feedback on all stages of the research process.

Abstract Presbyacusis, sudden sensorineural hearing loss (SNHL), noise‐induced hearing loss, and drug‐induced deafness are the most common types of acquired SNHL. At present, the diagnosis of these hearing disorders is mainly based on the medical history and audiological examination. Due to the lack of diagnostic biomarkers, diagnosis of acquired sensorineural hearing loss is difficult. Previous studies have suggested that microRNAs (miRNAs) serve essential roles in pathophysiological processes, and they are stable, tissue enriched, and could be determined in a quantitative manner. Therefore, they could be potential noninvasive biomarkers for acquired SNHL. This review provided a comprehensive overview of the similarities and differences in altered circulating miRNAs (cimiRNAs) (plasma, serum, whole blood, and perilymph) in various disorders, and highlighted the regulatory functions of cimiRNAs on the development, monitoring and prognosis of the four most common types of acquired SNHL.

Abstract The ankle‐link complex (ALC) consists of USH2A, WHRN, PDZD7, and ADGRV1 and plays an important role in hair cell development. At present, its architectural organization and signaling role remain unclear. By establishing Adgrv1 Y6236fsX1 mutant mice as a model of the deafness‐associated human Y6244fsX1 mutation, the authors show here that the Y6236fsX1 mutation disrupts the interaction between adhesion G protein‐coupled receptor V subfamily member 1 (ADGRV1) and other ALC components, resulting in stereocilia disorganization and mechanoelectrical transduction (MET) deficits. Importantly, ADGRV1 inhibits WHRN phosphorylation through regional cAMP‐PKA signaling, which in turn regulates the ubiquitination and stability of USH2A via local signaling compartmentalization, whereas ADGRV1 Y6236fsX1 does not. Yeast two‐hybrid screening identified the E3 ligase WDSUB1 that binds to WHRN and regulates the ubiquitination of USH2A in a WHRN phosphorylation‐dependent manner. Further FlAsH‐BRET assay, NMR spectrometry, and mutagenesis analysis provided insights into the architectural organization of ALC and interaction motifs at single‐residue resolution. In conclusion, the present data suggest that ALC organization and accompanying local signal transduction play important roles in regulating the stability of the ALC.

Abstract Purpose To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. Methods The proband underwent a thorough physical examination and a detailed audiological and temporal bone computed tomography (CT) scan. Cochlear implantation was performed on the proband, and follow‐up was conducted. High throughput sequencing and copy number analysis was made of peripheral blood samples from the proband, family members, and control subjects. Results Sensorineural hearing loss was present in the boy and temporal bone CT scan showed a bilateral incomplete partition type III anomaly (IP‐III). Q21.1 (79.40–83.32 Mb) of chromosome X in the proband had a copy number deletion with a fragment size of about 3.92 Mb. Categories of auditory performance scores and SIR scores of the cochlea in this child improved after surgery. Conclusion Through the analysis of POU3F4, a novel mutation site with potentially pathogenic significance was found. Level of Evidence: 5.

Abstract Objective Evaluation of the self‐perceived hearing impairment and performance after cochlear implantation in patients with definite Menière's disease (MD). Patients and Methods Seventeen unilaterally or bilaterally profoundly hearing‐impaired patients suffering from MD who received a cochlear implantat (CI) were eligible for inclusion in this study. Their self‐perceived hearing impairment using the short Speech Spatial and Qualities of Hearing Scale (SSQ12) as well as their performance in speech perception (German language Freiburger mono‐ and multisyllable test, Oldenburger sentence test) were compared with a best‐matched control group of non‐MD patients up to 24 months of follow‐up. Results MD patients improved significantly in perception of monosyllables presented at 65 dBSPL, from preoperatively best aided 18.2% [2.4, 34.0] to 51.7% [39.4, 63.9] 1 year after cochlear implantation (mean [95% confidence interval]). Their performance approached the matched controls with 63.2% [55.7, 70.8]. Monosyllables presented at a lower intensity of 55 dBSPL revealed a significant underperformance of the MD patients (21.1% [12.6, 29.6]) in contrast to the non‐MD controls (39.1% [30.9, 47.4]) 12 months post‐CI. Self‐assessed hearing disability was significantly more pronounced in MD patients with a mean total SSQ12 score of 3.6 [2.4, 4.9] in comparison to 6.1 [5.4, 6.8] of the matched non‐MD controls after 12 months of cochlear implantation. Conclusion Cochlear implantation substantially improves hearing capabilities in profoundly hearing‐impaired patients with MD, but they tend to underperform in comparison to non‐MD patients at least at lower sound pressure levels. This is likely one reason for the poorer self‐assessed hearing function of cochlear implanted MD patients. Level of Evidence 3, retrospective, nonrandomized follow‐up study.

Abstract This case report presents the first H‐syndrome rarity in Iraq, a 12‐year‐old female patient who was attending the Rheumatology out clinic for progressive hands joint deformities. She has a history of a multi‐systemic collection of diseases with various clinical features that include beta thalassemia minor, sensorineural deafness, and celiac disease.

Abstract Background Irreversible sensorineural auditory loss has been reported in humans treated with aminoglycosides but not in horses. Objective Investigate if auditory loss occurs in horses treated using the recommended IV daily dosage of gentamicin for 7 consecutive days. Animals Ten healthy adult horses (7‐15 years; females and males, 5 each). Methods Prospective study. Physical and neurological examinations and renal function tests were performed. Gentamicin sulfate was administered at a dosage of 6.6 mg/kg via the jugular vein on alternating sides for 7 days. Gentamicin peak and trough concentrations were measured. Horses were sedated using detomidine hydrochloride IV to perform brainstem auditory evoked responses (BAER) before the first dose, immediately after the last dose, and 30 days after the last dose. Peaks latencies, amplitudes, and amplitude ratios were recorded. Data from the second and last BAER were compared to results at baseline. Bone conduction was performed to rule out conduction disorders. Results Seven horses had auditory loss: complete bilateral (N = 1), complete unilateral (N = 2), and partial unilateral (N = 4). Based on physical examination and BAER results, sensorineural auditory loss was suspected. Absent bone conduction ruled out a conduction disorder and further supported sensorineural auditory loss in horses with completely absent BAER. Auditory dysfunction was reversible in 4 of 7 horses. Conclusions and Clinical Importance Gentamicin at recommended doses may cause sensorineural auditory loss in horses that might be irreversible. Follow‐up studies are needed to investigate if other dosing protocols present a similar risk.

Abstract We encourage SARS‐CoV‐2 polymerase chain reaction in the diagnostic workup of patients currently presenting with sudden sensorineural hearing loss.

ABSTRACT We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS).

Abstract The case of thiamine‐responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow‐up, and regulated treatment plan for the patients. Complications and systemic manifestations are likely to enhance in otherwise circumstances.

Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syndromic causes that have HL as part of the clinical phenotype. Conclusions Identifying HL genes coupled with clinical characteristics (“genotype‐phenotype”) yields a more accurate diagnosis and prognosis. Although the complexity of the auditory apparatus presents challenges, gene therapy is emerging and may be a viable management option in the future.

Abstract Contemporary histopathology of the ear is based on an evolution of equipment and histological techniques over the last 500 years, including the invention of the light microscope and protocols for fixation, embedment, sectioning, and staining of tissue samples, and visual documentation of findings. Several recent techniques which can be utilized in otopathology hold promise for significant improvement in methods and a better understanding of pathologic processes in diseases of the ear.

Many commercial reproductive genetic carrier screening (RGCS) panels include genes associated with non-syndromic hearing loss (NSHL), however little is known about the general acceptability of their inclusion. Although some couples wish to avoid having a deaf child, there are effective interventions and supports available for deafness, and no consensus on whether it is appropriate to reproductively screen NSHL genes. This study explored views of people with personal experience of deafness regarding carrier screening for genes associated with NSHL. We interviewed 27 participants; 14 who identified as deaf and 13 hearing parents of a deaf child. Thematic analysis was undertaken on transcripts of interviews. The findings reveal the complexity of attitudes within these groups. Some vacillated between the wish to support prospective parents' reproductive autonomy and concerns about potential harms, especially the expression of negative messages about deafness and the potential loss of acceptance in society. While some participants felt carrier screening could help prospective parents to prepare for a deaf child, there was little support for reproductive screening and termination of pregnancy. Participants emphasized the need for accurate information about the lived experience of deafness. The majority felt deafness is not as severe as other conditions included in RGCS, and most do not consider deafness as a disability. People with personal experience of deafness have diverse attitudes towards RGCS for deafness informed by their own identify and experience, and many have concerns about how it should be discussed and implemented in a population wide RGCS program., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Abstract Background Genetic components contribute significantly to the cause of hearing loss. Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. For families who had given birth to two nonsyndromic deaf children in succession, it seems that their deafness was highly related to genetics. Objectives This study aimed to disclose the genetic causes of the subjects from the four Chinese families with two nonsyndromic deaf children in succession who failed to find the genetic etiology of the hearing loss by common deafness genetic screening (GJB2, GJB3, SLC26A4, and MT‐RNR1, including 20 hot variants in 4 genes). Methods Targeted next‐generation sequencing (NGS) of 127 known deafness genes was performed in probands of four families, followed by a series of comprehensive analyses of all family members combined with a literature review of related genes. Results We identified pathogenic variants in three families including c.919‐2A>G/c.1985G>A in SLC26A4; c.109G>A (p.V37I) in GJB2; and m.7505T>C in MT‐TS1. Sanger sequencing confirmed that these variants segregated with the hearing impairment of each family. We also identified c.331C>T/c.625‐5C>T/c.5717G>A in CDH23; c.138T>C in POU3F4 in two families, in which the pathogenicity in clinical was likely pathogenic or unknown. Conclusions Using the NGS detection technology, we found the genetic etiology of the HL in part of deaf families. Our study provided a useful piece of information for the variant spectrum of hearing loss in Chinese families with two deaf children in succession.

Abstract Background Variants in the GJB2 gene encoding the gap junction protein connexin‐26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hearing, such as palmoplantar keratoderma (PPK) with deafness and keratitis–ichthyosis–deafness (KID) syndrome. Here, we report a patient with chronic mucocutaneous candidiasis, hyperkeratosis with resorption of the finger tips, profound bilateral sensorineural hearing loss, and normal hair and ocular examination. Exome analysis identified a novel missense variant in GJB2 (NM_004004.5:c.101T>A, p.Met34Lys) that was inherited from a mosaic unaffected parent in the setting of a well‐reported GJB2 loss of function variant (NM_004004.5:c.35delG, p.Gly12Valfs*2) on the other allele. Method Rat epidermal keratinocytes were transfected with cDNA encoding wildtype Cx26 and/or the Met34Lys mutant of Cx26. Fixed cells were immunolabeled in order to assess the subcellular location of the Cx26 mutant and cell images were captured. Results Expression in rat epidermal keratinocytes revealed that the Met34Lys mutant was retained in the endoplasmic reticulum, unlike wildtype Cx26, and failed to reach the plasma membrane to form gap junctions. Additionally, the Met34Lys mutant acted dominantly to wildtype Cx26, restricting its delivery to the cell surface. Conclusion Overall, we show the p.Met34Lys variant is a novel dominant acting variant causing PPK with deafness. The presence of a loss a function variant on the other allele creates a more severe clinical phenotype, with some features reminiscent of KID syndrome.

Abstract Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilateral sensorineural HL in two distinct consanguineous Iranian families to figure out the underlying genetic factors. Methods Physical and sensorineural examinations were performed on the patients. Imaging also was applied to unveil any abnormalities in anatomical structures of the middle and inner ear. In order to decipher the possible genetic causes of the verified GJB2‐negative samples, the probands were subjected to whole‐exome sequencing and, subsequently, Sanger sequencing was applied for variant confirmation. Results Clinical examinations showed ARNSHL in the patients. After doing whole exome sequencing, two novel variants were identified that were co‐segregating with HL that were absent in 100 ethnically matched controls. In the first family, a novel homozygous variant, NM_138691.2: c.530T>C; p.(lle177Thr), in TMC1 gene co‐segregated with prelingual ARNSHL. In the second family, NM_022124.6: c.2334G>A; p.(Trp778*) was reported as a nonsense variant causing prelingual ARNSHL. Conclusion These findings can, in turn, endorse how TMC1 and CDH23 screening is critical to detecting HL in Iranian patients. Identifying TMC1 and CDH23 pathogenic variants doubtlessly help in the detailed genotypic characterization of HL.

Objective: Investigate the prevalence of hearing protection (HP) use and behavioral motivations and barriers among adults attending music venues., Study Design: Cross-sectional online survey study., Setting: Noise exposure levels at popular social music venues often exceed national guidelines., Methods: Surveys were distributed on online music communities. Respondents (n = 2352) were asked about demographics, HP use at music venues, knowledge about noise exposure impact, and perceptions of HP use. Data were characterized through descriptive statistics. Multivariable regression analysis explored differences in knowledge and perception between HP users and nonusers., Results: In this cohort (mean age 29 ± 7 years, 61% male), HP users were significantly more aware of the impact of music venues on hearing (P < .01), believed their hearing ability had decreased after attending music venues (P < 0.01), and believed HP could protect from hearing loss (P < .01) than non-HP users. HP nonusers most frequently cited never considering HP (14.45%) and apathy about it affecting music quality (12.71%). Common sources of HP information were recommended by a friend/peer. Multivariable regression analysis accounting for demographics, medical history, and attendance characteristics found belief that HP use at music venues could protect from hearing loss (β = 0.64, 95% confidence interval [CI] = [0.49-0.78]) and HP use (β = 1.73, 95% CI = [1.47-1.98]) were significantly associated with increased subjective enjoyment while wearing HP., Conclusion: HP users and nonusers have significantly different perceptions of HP use and its impact. Our findings have implications for understanding motivations and barriers related to HP use and developing strategies to promote HP use at music venues., (© 2023 The Authors. Otolaryngology-Head and Neck Surgery published by Wiley Periodicals LLC on behalf of American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objective: Hearing loss (HL) has been postulated to be linked to cardiovascular diseases (CVDs) via vascular mechanisms, but epidemiological associations remain unclear. The study aims to clarify the association between HL and stroke, coronary artery disease (CAD), and any CVD., Data Sources: PubMed, Embase, and SCOPUS from inception until April 27, 2022., Review Methods: Three blinded reviewers selected observational studies reporting stroke, CAD, and any CVD in patients with HL, compared to individuals without HL. We extracted data, evaluated study bias using the Newcastle-Ottawa scale, following Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and a PROSPERO-registered protocol (CRD42022348648). We used random-effects inverse variance meta-analyses to pool the odds ratios (ORs) for the association of HL with stroke, CAD, and any CVD., Results: We included 4 cohort studies (N = 940,771) and 6 cross-sectional studies (N = 680,349). Stroke, CAD, and any CVD were all strongly associated with HL. The overall pooled OR of the association between HL and stroke was 1.26 (95% confidence interval [CI] = 1.16-1.37, I 2  = 78%), and was 1.33 (95% CI = 1.12-1.58) and 1.29 (95% CI = 1.14-1.45) for low- and high-frequency HL, respectively. Minimal publication bias was observed, with minimal change to pooled effect size following trim and fill. Similarly, the pooled OR of the association between HL and CAD was 1.36 (95% CI = 1.13-1.64, I 2  = 96%), while that between HL and any CVD was 1.38 (95% CI = 1.07-1.77, I 2  = 99%)., Conclusion: Our findings suggest that HL and CVD are closely related. Physicians treating patients with HL should be cognizant of this association and view HL in the broader context of general health and aging., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objective: To investigate the association between standard pure tone and speech audiometry with neuroimaging characteristics reflective of aging and dementia in older adults., Study Design: Prospective population-based study., Setting: Single tertiary care referral center., Methods: Participants from the Mayo Clinic Study of aging 60 years old or older with normal cognition or mild cognitive impairment, baseline neuroimaging, and a behavioral audiogram associated with neuroimaging were eligible for study. Imaging modalities included structural MRI (sMRI) and fluid-attenuated inversion recovery MRI (FLAIR-MRI; N = 605), diffusion tensor imaging MRI (DTI-MRI; N = 444), and fluorodeoxyglucose-positron emission tomography (FDG-PET; N = 413). Multivariable logistic and linear regression models were used to evaluate associations with neuroimaging outcomes., Results: Mean (SD) pure tone average (PTA) was 33 (15) dB HL and mean (SD) word recognition score (WRS) was 91% (14). There were no significant associations between audiometric performance and cortical thinning assessed by sMRI. Each 10-dB increase in PTA was associated with increased likelihood of abnormal white-matter hyperintensity (WMH) from FLAIR-MRI (odds ratio 1.26, P = .02). From DTI-MRI, participants with <100% WRSs had significantly lower fractional anisotropy in the genu of the corpus callosum (parameter estimate [PE] -0.012, P = .008) compared to those with perfect WRSs. From FDG-PET, each 10% decrease in WRSs was associated with decreased uptake in the anterior cingulate cortex (PE -0.013, P = .001)., Conclusion: Poorer audiometric performance was not significantly associated with cortical thinning but was associated with white matter damage relevant to cerebrovascular disease (increased abnormal WMH, decreased corpus callosum diffusion). These neuroimaging results suggest a pathophysiologic link between hearing loss and cerebrovascular disease., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Abstract Background Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents. Methods We collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model. Results We report on two MSD patients—the first neonatal type reported in Israel—both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C>T, p.A348V). Functional analysis revealed that the SUMF1‐encoded variant of formylglycine‐generating enzyme is highly instable and lacks catalytic function. Conclusion The obtained results confirm genotype‒phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.

Abstract Background Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT‐RNR1 were excluded. Methods Targeted next‐generation sequencing of 147 known deafness genes was performed in probands of 10 families, while whole‐exome sequencing was applied in those of the rest two. Results Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands, with 16 mutations being novel. Intrafamilial cosegregation of the mutations and the deafness phenotype were confirmed by Sanger sequencing. Conclusion Our results expanded the mutation spectrum and genotype‒phenotype correlation of nonsyndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next‐generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for nonsyndromic hearing loss.

Background A congenital syndrome of hearing loss and vestibular dysfunction affects Doberman Pinschers. Its inheritance pattern is suspected to be autosomal recessive and it potentially represents a spontaneous animal model of an autosomal recessive syndromic hearing loss. Hypothesis/Objectives The objectives of this study were to use whole genome sequencing (WGS) to identify deleterious genetic variants in candidate genes associated with the syndrome and to study the prevalence of candidate variants among a population of unaffected Doberman Pinschers. Animals One affected Doberman Pinscher and 202 unaffected Doberman Pinschers. Methods WGS of the affected dog with filtering of variants against a database of 154 unaffected dogs of diverse breeds was performed. Confirmation of candidate variants was achieved by Sanger sequencing followed by genotyping of the control population of unaffected Doberman Pinschers. Results WGS and variant filtering identified an alteration in a gene associated with both deafness and vestibular disease in humans: protein tyrosine phosphatase, receptor type Q (PTPRQ). There was a homozygous A insertion at CFA15: 22 989 894, causing a frameshift mutation in exon 39 of the gene. This insertion is predicted to cause a protein truncation with a premature stop codon occurring after position 2054 of the protein sequence that causes 279 C‐terminal amino acids to be eliminated. Prevalence of the variant was 1.5% in a cohort of 202 unaffected Doberman Pinschers; all unaffected Doberman Pinschers were heterozygous or heterozygous for the reference allele. Conclusion and Clinical Importance We report the identification of a genetic alteration on the PTPRQ gene that is associated with congenital hearing and vestibular disorder in a young Doberman Pinscher dog.

Abstract Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed of three dimers that constitute a hexamer. Methods Next‐generation sequencing (NGS) was performed using a custom 92‐gene panel designed for the diagnosis of Charcot‐Marie‐Tooth (CMT) and associated neuropathies. Results We report the case of a 35‐year‐old male, who had presented CMT and hearing loss since childhood associated to bilateral optic neuropathy without any sign of retinitis pigmentosa. A new hemizygous variant on chromosomic position X:106,882,604, in the PRPS1 gene, c.202A > T, p.(Met68Leu) was found. This change is predicted to lead to an altered affinity between the different subunits in the dimer, thereby may prevent the hexamer formation. Conclusion CMTX5 is probably under‐diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for PRPS1.

Abstract Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells. THTR‐1 is the only thiamine transporter expressed in bone marrow, cochlear, and pancreatic beta cells. THTR‐1 loss‐of‐function leads to the rare recessive genetic disease Thiamine‐Responsive Megaloblastic Anemia (TRMA, OMIM #249270). Methods In vitro stimulated blood lymphocytes were used for cytogenetics and the isolation of genomic DNA used to perform whole exome sequencing (WES). To validate identified mutations, direct Sanger sequencing was performed following PCR amplification. Results A 6‐year‐old male born from a consanguineous couple presenting bone marrow failure and microcephaly was referred to our clinic for disease diagnosis. The patient presented a normal karyotype and no chromosomal fragility in response to DNA damage. WES analysis led to the identification of a new pathogenic variant in the SLC19A2 gene (c.596C>G, pSer199Ter) allowing to identify the young boy as a TRMA patient. Conclusion Our analysis extend the number of inactivating mutations in SLC19A2 leading to TRMA that could guide future prenatal diagnosis for the family and follow‐up for patients.

Objective: Hearing loss may negatively impact satisfaction with health care via patient-provider communication barriers and may be amenable to hearing care treatment., Study Design: Cross-sectional., Setting: National Health Interview Survey, a nationally representative survey of noninstitutionalized US residents, 2013 to 2018 pooled cycles., Methods: Participants described satisfaction with health care in the past year, categorized as optimal (very satisfied) versus suboptimal (satisfied, dissatisfied, very dissatisfied) satisfaction. Self-report hearing without hearing aids (excellent, good, a little trouble, moderate trouble, a lot of trouble) and hearing aid use (yes, no) were collected. Weighted Poisson regression models adjusted for sociodemographic and health covariates were used to estimate prevalence rate ratios (PRRs) of satisfaction with care by hearing loss and hearing aid use., Results: Among 137,216 participants (mean age 50.9 years, 56% female, 12% black), representing 77.2 million Americans in the weighted model, 19% reported trouble hearing. Those with good (PRR = 1.20, 95% confidence interval [CI]: 1.18-1.23), a little trouble (PRR = 1.27, 95% CI, 1.23-1.31), moderate trouble (PRR = 1.29, 95% CI, 1.24-1.35), and a lot of trouble hearing (PRR = 1.26, 95% CI, 1.18-1.33) had a higher prevalence rate of suboptimal satisfaction with care relative to those with excellent hearing. Among all participants with trouble hearing, hearing aid users had a 17% decrease in the prevalence rate of suboptimal satisfaction with care (PRR = 0.83, 95% CI, 0.78-0.88) compared to nonusers., Conclusion: Hearing loss decreases patient satisfaction with health care, which is tied to Medicare hospital reimbursement models. Hearing aid use may improve patient-provider communication and patient satisfaction, although prospective studies are warranted to truly establish their protective effect., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Background: Early identification and intervention for hearing loss is important for supporting language development. Despite this, parents are required to overcome barriers to access hearing assessments for their children., Aims: To identify the enablers and barriers to accessing hearing assessments for Australian children identified by their parents, and to compare between metropolitan, regional and rural areas., Methods & Procedures: This sequential, explanatory mixed-methods study was undertaken online and included participants in metropolitan, regional and rural area of Queensland, New South Wales, Victoria, South Australia, Western Australia and the Northern Territory. A total of 56 participants participated in the surveys, and 10 participated in semi-structured interviews., Outcomes & Results: Participants in metropolitan areas were more likely to have services in their area; however, access to hearing assessment was related more to individual circumstances (including health literacy skills) rather than geographical location. Many participants experienced long wait times, reduced flexibility, and a lack of audiologists experienced in working with children., Conclusions & Implications: Barriers to hearing assessments (which assist with early identification and intervention for hearing loss) should be addressed so that children have access to clear auditory information to assist with their speech and language development., What This Paper Adds: What is already known on the subject Poor audiological input can lead to poor speech, language and literacy outcomes for children. What this paper adds to the existing knowledge Although previous research indicates that people in regional and remote locations experience difficulty accessing health services within a reasonable timeframe, in this study barriers were experienced regardless of geographical location, and were dependent on individual circumstances. Many parents are unaware of the impact of hearing on speech and language. What are the potential or actual clinical implications of this work? Further research might examine how health literacy affects access to hearing assessment. Parents shared several potential solutions to these access barriers which should be considered by service providers., (© 2023 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd behalf of Royal College of Speech and Language Therapists.)

Objective: To explore how gender and low-income status independently influence general health care access in patients with hearing loss., Study Design: Cross-sectional study., Setting: National database., Methods: 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 demographics such as age, gender, educational level, and insurance status were assessed. Multivariate logistic regressions were performed for statistical evaluation., Results: 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., Conclusion: 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., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Background: Pragmatic language use in general and the use of evaluation devices (EDs) are very important components in everyday communication and expressing thoughts and feelings in narrative production. However, very little is known about the use of evaluative devices in the narratives of Arabic-speaking adolescents, especially those who are deaf and hard of hearing (DHH)., Aims: The present study investigated the use of EDs in personal oral narratives elicited from 124 hearing and DHH Arabic-speaking adolescents., Methods & Procedures: Each participant was asked to tell a personal story about a time he or she was in a dangerous situation. Narratives were transcribed and coded for nine different types of evaluation., Outcomes & Results: A three-way interaction of group (hearing/DHH) by gender (Female/Male) by evaluation type emerged such that female hearing adolescents' narratives contained significantly more frames of mind than the narratives of DHH females and hearing males and more hedges than DHH females. In addition, hearing males' narratives contained more hedges than those of DHH males and more negative comments than the narratives of both hearing females and DHH males., Conclusions & Implications: The present research identifies factors that facilitate narrative abilities by DHH. Discussion centres on explanations for group and gender differences in terms of exposure and language socialization., What This Paper Adds: What is already known on this subject Although narratives have been researched extensively in comparisons of hearing and deaf and hard of hearing (DHH) children, only a few studies have examined pragmatic language use in general and evaluation devices in particular. These studies show that the narratives of DHH children and adolescents contain fewer figurative expressions, frames of mind and hedges and that children who are DHH have difficulty comprehending and producing metaphors. Very little is known about the use of evaluative devices in the narratives of Arabic-speaking adolescents, especially those who are DHH. What this study adds The present study found that hearing participants produced significantly more evaluation devices (Eds) than their DHH peers, and female participants produced significantly more EDs than their male peers. Moreover, hearing females' narratives contained more frames of mind and more hedges than did the narratives of DHH females; also, hearing females' narratives contained more frames of mind than those of hearing males. In addition, hearing males' narratives contained more hedges than those of DHH males. Finally, hearing males' narratives had more negative comments than both the narratives of hearing females and those of DHH males. Clinical implications The one evaluation device produced in large numbers (hedges) by adolescents who are DHH was expressed in only one of two ways. One important clinical implication of this finding is that pragmatic language in general and use of EDs in particular should be part of any speech and language evaluation. Another takeaway is that intervention should attempt to provide rich exposure to social communicative language, providing many ways to convey each function, enabling adolescents to communicate in different contexts., (© 2023 Royal College of Speech and Language Therapists.)

Background: More than 90% of deaf children are born to hearing families who know little about deafness. Benefits from hearing screening at birth are often lost, as families find little information about pathways for deaf children but are key to ensuring deaf children receive relevant language and communication support. Systems surrounding deaf children and family members are crucial for children's health and social development. Experiences of hearing parents raising deaf children and understanding factors that influence families' experience of navigating pathways for deaf children through health and education services are currently underreported., Methods: An exploratory study was conducted in Wales, UK. Twenty participants were interviewed, including 10 hearing parents of deaf children and 10 people who work with deaf children using semistructured interviews. Bronfenbrenner's ecological systems theory was used as a lens to explore the micro-, meso-, exo-, macro- and chronosystems that surround children and families. This study explores potential supports and barriers in those systems., Findings: Findings are reported under two broad headings: enablers and barriers. Under enablers, it was found that provision of resources, supporting people and knowledge were key factors. Under barriers, a lack of knowledge, lack of provision and battling services and attitudes were key issues that need addressing., Conclusion: Hearing parents of deaf children in Wales, UK reported experiencing a range of enablers and barriers that impact upon their experiences of raising a deaf child. Further provision is needed by policymakers and governments to recognise support needs to improve the outcomes for deaf children., Patient or Public Contribution: This project was developed from initial discussions with the stakeholder reference group and progressed with the group's deaf panel and hearing parents with deaf children. The project's steering group was involved in study design, recruitment and continuous feedback on all stages of the research process., (© 2023 The Authors. Health Expectations published by John Wiley & Sons Ltd.)

Objective: Hearing aids (HAs) are designed for speech rather than music listening. The impact of HAs on music enjoyment is poorly studied. We examine the effect of HAs on active music enjoyment in individuals with varying levels of hearing loss (HL)., Study Design: Cross-sectional study., Setting: Tertiary medical center and community., Methods: Adult (≥18 years) bilateral HA users and normal hearing (NH) controls actively listened to musical stimuli and rated their enjoyment across 3 measures (pleasantness, musicality, naturalness) with and without HAs using a visual analog scale. Multivariable linear regression was used to assess the association between HL (measured by a pure-tone average [PTA] and word recognition score [WRS] of the better ear) and music enjoyment with and without HAs, adjusting for covariates. Music enjoyment was compared between HA users and NH controls, and HA users with and without their HAs., Results: One hundred bilateral HA users (mean age 66.0 years, 52% female, better ear mean [SD] PTA 50.2 [13.5] dBHL, mean WRS 84.5 [16.5]%) completed the study. Increasing severity of HL (PTA) was independently associated with decreased music enjoyment (pleasantness, musicality, naturalness) with and without HAs (p < .05). HA usage increased music enjoyment (musicality) in those with moderate to moderately severe HL. Music enjoyment in NH controls (n = 20) was significantly greater across all measures compared to HA users., Conclusion: Increased severity of HL is associated with decreased music enjoyment that can be enhanced with HA usage. Thus, HA usage can positively enhance both speech and music appreciation., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Background: Deaf and hard-of-hearing (DHH) patients are a priority population for emergency medicine health services research. DHH patients are at higher risk than non-DHH patients of using the emergency department (ED), have longer lengths of stay in the ED and report poor patient-provider communication. This qualitative study aimed to describe ED care-seeking and patient-centred care perspectives among DHH patients., Methods: This qualitative study is the second phase of a mixed-methods study. The goal of this study was to further explain quantitative findings related to ED outcomes among DHH and non-DHH patients. We conducted semistructured interviews with 4 DHH American Sign Language (ASL)-users and 6 DHH English speakers from North Central Florida. Interviews were transcribed and analysed using a descriptive qualitative approach., Results: Two themes were developed: (1) DHH patients engage in a complex decision-making process to determine ED utilization and (2) patient-centred ED care differs between DHH ASL-users and DHH English speakers. The first theme describes the social-behavioural processes through which DHH patients assess their need to use the ED. The second theme focuses on the social environment within the ED: patients feeling stereotyped, involvement in the care process, pain communication, receipt of accommodations and discharge processes., Conclusions: This study underscores the importance of better understanding, and intervening in, DHH patient ED care-seeking and care delivery to improve patient outcomes. Like other studies, this study also finds that DHH patients are not a monolithic group and language status is an equity-relevant indicator. We also discuss recommendations for emergency medicine., Patient or Public Contribution: This study convened a community advisory group made up of four DHH people to assist in developing research questions, data collection tools and validation of the analysis and interpretation of data. Community advisory group members who were interested in co-authorship are listed in the byline, with others in the acknowledgements. In addition, several academic-based co-authors are also deaf or hard of hearing., (© 2023 The Authors. Health Expectations published by John Wiley & Sons Ltd.)

Deaf individuals may report difficulties in social interactions. However, whether these difficulties depend on deafness affecting social brain circuits is controversial. Here, we report the first meta-analysis comparing brain activations of hearing and (prelingually) deaf individuals during social perception. Our findings showed that deafness does not impact on the functional mechanisms supporting social perception. Indeed, both deaf and hearing control participants recruited regions of the action observation network during performance of different social tasks employing visual stimuli, and including biological motion perception, face identification, action observation, viewing, identification and memory for signs and lip reading. Moreover, we found increased recruitment of the superior-middle temporal cortex in deaf individuals compared with hearing participants, suggesting a preserved and augmented function during social communication based on signs and lip movements. Overall, our meta-analysis suggests that social difficulties experienced by deaf individuals are unlikely to be associated with brain alterations but may rather depend on non-supportive environments., (© 2023 The Authors. Human Brain Mapping published by Wiley Periodicals LLC.)

Objective: To determine normative values for the Inner Effectiveness of Auditory Rehabilitation (Inner EAR) scale, a validated instrument utilized to study the impact of hearing loss and potential treatments., Study Design: Observational outcomes study., Setting: Academic medical center and community care sites., Methods: We included patients who were at least 18 years of age and completed the Inner EAR scale, pure-tone audiometry, and word recognition score assessment. Based on audiometry results, patients were categorized as having: (1) normal bilateral hearing, (2) unilateral hearing loss, and (3) bilateral hearing loss. The distributions of Inner EAR scale scores were assessed within each category. Fisher's exact test was utilized to determine whether data-driven threshold values could discriminate among the 3 clinical groups., Results: Two hundred and twenty-two consecutive patients with hearing-related complaints met inclusion criteria. Mean Inner EAR scores for patients with bilateral hearing loss (29.2, interquartile range [IQR] 10-41.5), unilateral hearing loss (38.9, IQR 23-49), and normal hearing (46.6, IQR 31-62) were significantly different (analysis of variance F < 0.0001). An Inner EAR score threshold of 50 supported the ability to statistically significantly discriminate between bilateral hearing loss and normal hearing (p = .003), as well as between unilateral hearing loss and normal hearing (p = .015)., Conclusion: An Inner EAR score normative threshold value of 50 provides significant discriminatory ability between normal hearing and unilateral or bilateral hearing loss on audiometry. Normative values provide useful, frequently referenced data when assessing responses to treatment. Based on these data, this threshold may help distinguish patients with and without perceived functional impact from hearing loss., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Individuals with hearing loss are at increased risk of having poor access to health care compared with hearing peers. The impact of the COVID-19 pandemic on health care access for adults with hearing loss in the United States was investigated through weighted analyses of the 2021 National Health Interview Survey. The association of hearing loss and disruptions to health care use during the pandemic was examined using multivariable logistic regression controlling for demographic characteristics including sex, race/ethnicity, education, socioeconomic status, insurance status, and medical comorbidities. Adults with hearing loss had significantly higher odds of reporting receiving no medical care (odds ratio [OR] = 1.63, 95% confidence interval [CI]: 1.46-1.82, p < .001) or delayed medical care (OR = 1.57, 95% CI: 1.43-1.71, p < .001) due to the pandemic. Individuals with hearing loss did not have higher odds of COVID-19 diagnosis or vaccination. Strategies should be developed to support adults with hearing loss to improve their access to care during public health emergencies., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Hearing loss is a common condition that can lead to disability and significantly impact the quality of life. However, as the literature investigating the relationship between hearing loss and patients' perception of respect within the clinical setting is lacking, we performed a retrospective, cross-sectional analysis of the 2017 National Health Interview Survey to elucidate this interaction. After weights were applied, 16,295,495 patients (mean age: 63.79, standard error: 0.28) with hearing loss were identified. Multivariable logistic regression analyses found that those with self-reported hearing loss were less likely to report being treated with respect by their healthcare providers (odds ratio [OR], 0.766; [95% confidence interval, CI: 0.691-0.848]) and less likely to be asked about their beliefs/opinions about the care that they received (OR, 0.842; [95% CI: 0.774-0.916]), indicating a possible disparity in care. Further investigation is needed to examine how this patient population is treated and how providers can create a more inclusive environment., (© 2023 American Academy of Otolaryngology-Head and Neck Surgery Foundation.)