Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant.

Objectives: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant. Data was collected through questionnaire-based detailed interviews. Syndromic Hearing Loss, Non-Syndromic Hearing Loss, and Acquired Hearing Loss were identified among the subjects. Data was analysed using SPSS 22. RESULTS: Of the 250 cases, 147(58.8%) were boys, 146(58.4%) were aged 0-5 years, 219(87.6%) had prelingual onset of disease, and 202(80.8%) had a non-progressive disease course. In 203(81.2%) cases, normal developmental milestones were seen. Parental consanguinity was observed in 219(87.6%) cases. However, 63(25.2%) patients had a first-degree relative who had a history of deafness. In 170(68%) cases, hearing loss was hereditary, whereas in 80(32%) it was acquired. Meningitis was the most commonly identified risk factor 55(68.75%). Acquired risk factors and family history had significant association with hearing loss (p<0.05). Speech perception significantly improved in all 219(100%) patients with prelingual hearing loss who underwent cochlear implantation. CONCLUSIONS: Majority of the cases were found to be male, had a prelingual disease onset and a non-progressive disease course. Family history was a significant factor, while meningitis was the most common acquired cause of hearing loss.

Australian families of deaf and hard of hearing children: Are they using sign?

BACKGROUND: Deaf and hard of hearing (DHH) children may experience communication delays, irrespective of early intervention and technology. Australian Sign Language (Auslan) is one approach in early intervention to address language delays. Current prevalence of Auslan use among Australian families with DHH children is unknown. AIMS: The first aim was to determine the proportion of families enrolled in an Australian statewide hearing loss databank who use Auslan with their DHH child. The second aim was to explore the relationships between indicators of child hearing loss (bilateral or unilateral hearing loss, degree of hearing loss, and device use: hearing aids and cochlear implants), family factors (maternal education, attendance at early intervention, family history of deafness, and socio-economic disadvantage) and the family's reported use of Auslan. METHODS: We analysed the enrolment data from 997 families who participated in an Australian statewide hearing loss databank between 2012 and 2021. We described the proportion of families who used Auslan with their DHH child at home. The association between indicators of child hearing loss and family factors, and the parental reports of communication approach were examined using correlation analyses. RESULTS: Eighty-seven of 997 parents (8.7%) reported using Auslan with their DHH child. Of these, 26 (2.6%) used Auslan as their primary language. The use of Auslan at home was associated with the following indicators of child hearing loss: bilateral hearing loss, profound compared to mild hearing loss, and cochlear implant and hearing aid use compared to no device use. The family factors associated with the use of Auslan were: referral or attendance at early intervention compared to those who did not attend, and a family history of deafness compared to those with none. No association was found between maternal education and socio-economic disadvantage and the use of Auslan. CONCLUSION: This Australian study found a low proportion (8.7%) of families with a DHH child who reported using Auslan. Seven child hearing loss and family factors were considered, and five were significantly associated with using Auslan at home. Children with a greater degree of hearing loss, attendance at early intervention and family history of deafness tended to use Auslan.

Prevalence of hearing loss, tinnitus, vertigo and sudden deafness among patients with polymyositis and dermatomyositis.

Little is known about a possible association of autoimmune inner ear disease among patients diagnosed with polymyositis (PM)/dermatomyositis (DM). This study aimed to explore differences in the prevalence of inner ear symptoms among patients with and without PM/DM using a nationwide population-based dataset. Data for this study were retrieved from the Taiwan National Health Insurance Research Database. The study sample included 1622 patients diagnosed with PM/DM and 8109 propensity-score matched comparison patients without PM/DM. We performed multivariate logistic regressions to calculate odds ratios (ORs) and 95% confidence interval (CI) for tinnitus, hearing loss, sudden deafness, and vertigo among patients with PM/DM versus comparison patients. Chi-square tests showed statistically significant differences between patients with PM/DM and comparison patients in the prevalence of tinnitus (16.1% vs. 12.7%, p < 0.001), non-conductive hearing loss (9.2% vs. 6.8%, p < 0.001), and vertigo (14.4% vs. 11.1%, p < 0.001). The adjusted ORs for tinnitus, non-conductive hearing loss, and vertigo, respectively, were 1.332 (95% CI = 1.147-1.547), 1.399 (95% CI = 1.154-1.696), and 1.374 (95% CI = 1.173-1.611) for patients with PM/DM when compared to comparison patients. Our study finds that patients with PM/DM have higher prevalence rates of tinnitus, non-conductive hearing loss, and vertigo than comparison patients.

Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families.

BACKGROUND: Our study centers on various aspects of families who have 2 or more members with hearing loss (HL) and are living in Golestan province in Iran. We aimed to identify those families with the highest probability of hereditary HL and also to examine the impact of consanguinity among them. METHODS: The families included in the study underwent a comprehensive screening process that involved their prenatal and postnatal histories as well as family medical histories. Additionally, each patient received a thorough clinical ear examination. The evaluation also took into account factors such as patterns of inheritance, consanguinity, a 3-generation pedigree, and physical examination. Following this initial assessment, patients were referred for a complete hearing evaluation, which included pure-tone audiometry, speech recognition threshold, otoacoustic emission, and auditory brainstem response tests. RESULTS: We identified a total of 8553 individuals living in Golestan province who are hearing impaired. Among those, our records indicate that 320 families had at least 2 affected members. The rate of consanguinity marriage in non-syndromic families was 64.43%. Also, a significant number (88.12%, or n=282) of the families exhibited hereditary HL, among which a substantial proportion (89.72%, or n=253) presented with nonsyndromic forms of HL. Furthermore, bilateral, stable, and prelingual HL were the most frequently observed types, and a majority of the patients were diagnosed with sensorineural and profound HL. CONCLUSION: This study revealed a correlation between consanguinity and the incidence of familial HL, with more probability of bilateral, prelingual, sensorineural, and profound forms.

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.

This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in 1907 neonates. In PCR hybridization screening group, 346 (4.18%) of 8276 neonates were found to be carriers of the deafness gene. Among these, 182 (2.2%) had GJB2 variants, 114 (1.38%) had SLC26A4 variants, 35 (0.42%) had mtDNA variants, and 15 (0.18%) had GJB3 variants. In NGS Screening Group, 195 out of 1907 neonates were found to be carriers of the deafness gene, with a positive rate of 10.22%. Among these, 137 (7.18%) had GJB2 variants, 41 (2.15%) had SLC26A4 variants, 11 (0.58%) had mtDNA variants, and 6 (0.31%) had GJB3 variants. The prevalence of deafness gene variants was high in Northern Guangdong Province. The most common gene for deafness was GJB2, followed by SLC26A4 and mtDNA. GJB3 variants are rare. Compared with PCR hybridization method, NGS technology can expand the screening scope and greatly improve the detection rate of deafness genes. The c.109G>A of GJB2 was found to occur at a high frequency, which should be considered. Therefore, it is important to conduct neonatal deafness gene screening to prevent and control hereditary deafness.

Understanding health literacy of deaf persons with hypertension in South Korea: A cross-sectional study.

BACKGROUND: Health literacy is strongly associated with health inequality among persons with deafness, and hypertension (HTN) is the most prevalent chronic disease among persons with deafness in South Korea. Despite its importance, research regarding the health literacy levels of persons with deafness with HTN in South Korea is lacking. This study aimed to comprehensively assess the health literacy levels of persons with deafness with HTN in South Korea, including linguistic, functional, and internet health literacy. METHODS: In this descriptive cross-sectional study, 95 persons with deafness with HTN were recruited through facilities associated with the deaf community. From August 2022 to February 2023, data were collected through face-to-face surveys attended by a sign language interpreter and online surveys. The data were analyzed using descriptive statistics and Spearman's correlation. RESULTS: Approximately 62.1% of the participants exhibited a linguistic health literacy level corresponding to less than that of middle school students, and the total percentage correct of functional health literacy was 17.9%. Each domain of internet health literacy was low. Significant correlations were found between some aspects of health literacy. CONCLUSIONS: The study's findings highlight the low health literacy levels across various facets among persons with deafness with HTN in South Korea. Based on these findings, several strategies are suggested for developing HTN self-management interventions for persons with deafness. This study contributes to the foundational understanding of health literacy among persons with deafness with HTN in South Korea and provides valuable insights and guidance for developing HTN self-management interventions.

Underrepresentation of blind and deaf participants in the All of Us Research Program.

Blind and deaf individuals comprise large populations that often experience health disparities, with those from marginalized gender, racial, ethnic and low-socioeconomic communities commonly experiencing compounded health inequities. Including these populations in precision medicine research is critical for scientific benefits to accrue to them. We assessed representation of blind and deaf people in the All of Us Research Program (AoURP) 2018-2023 cohort of participants who provided electronic health records and compared it with the Centers for Disease Control and Prevention 2018 national estimates by key demographic characteristics and intersections thereof. Blind and deaf AoURP participants are considerably underrepresented in the cohort, especially among working-age adults (younger than age 65 years), as well as Asian and multi-racial participants. Analyses show compounded underrepresentation at the intersection of multiple marginalization (that is, racial or ethnic minoritized group, female sex, low education and low income), most substantively for working-age blind participants identifying as Black or African American female with education levels lower than high school (representing one-fifth of their national prevalence). Underrepresentation raises concerns about the generalizability of findings in studies that use these data and limited benefits for the already underserved blind and deaf populations.

Exposure to Spoken Communication During the COVID-19 Pandemic Among Children With Cochlear Implants.

Importance: School closures and other COVID-19-related restrictions could decrease children's exposure to speech during important stages of development. Objective: To assess whether significant decreases in exposure to spoken communication found during the initial phase of the COVID-19 pandemic among children using cochlear implants are confirmed for a larger cohort of children and were sustained over the first years of the COVID-19 pandemic. Design, Setting, and Participants: This cohort study used datalogs collected from children with cochlear implants during clinical visits to a tertiary pediatric hospital in Toronto, Ontario, Canada, from January 1, 2018, to November 11, 2021. Children with severe to profound hearing loss using cochlear implants were studied because their devices monitored and cataloged levels and types of sounds during hourly use per day (datalogs) and because their hearing and spoken language development was particularly vulnerable to reduced sound exposure. Statistical analyses were conducted between January 2022 and August 2023. Main Outcomes and Measures: Daily hours of sound were captured by the cochlear implant datalogging system and categorized into 6 auditory scene categories, including speech and speech-in-noise. Time exposed to speech was calculated as the sum of daily hours in speech and daily hours in speech-in-noise. Residual hearing in the ear without an implant of children with unilateral cochlear implants was measured by pure tone audiometry. Mixed-model regression analyses revealed main effects with post hoc adjustment of 95% CIs using the Satterthwaite method. Results: Datalogs (n = 2746) from 262 children (137 with simultaneous bilateral cochlear implants [74 boys (54.0%); mean (SD) age, 5.8 (3.5 years)], 38 with sequential bilateral cochlear implants [24 boys (63.2%); mean (SD) age, 9.1 (4.2) years], and 87 with unilateral cochlear implants [40 boys (46.0%); mean (SD) age, 7.9 (4.6) years]) who were preschool aged (n = 103) and school aged (n = 159) before the COVID-19 pandemic were included in analyses. There was a slight increase in use among preschool-aged bilateral cochlear implant users through the pandemic (early pandemic, 1.4 h/d [95% CI, 0.3-2.5 h/d]; late pandemic, 2.3 h/d [95% CI, 0.6-4.0 h/d]) and little change in use among school-aged bilateral cochlear implant users (early pandemic, -0.6 h/d [95% CI, -1.1 to -0.05 h/d]; late pandemic, -0.3 h/d [95% CI, -0.9 to 0.4 h/d]). However, use decreased during the late pandemic period among school-aged children with unilateral cochlear implants (-1.8 h/d [95% CI,-3.0 to -0.6 h/d]), particularly among children with good residual hearing in the ear without an implant. Prior to the pandemic, children were exposed to speech for approximately 50% of the time they used their cochlear implants (preschool-aged children: bilateral cochlear implants, 46.6% [95% CI, 46.5%-47.2%] and unilateral cochlear implants, 52.1% [95% CI, 50.7%-53.5%]; school-aged children: bilateral cochlear implants, 47.6% [95% CI, 46.8%-48.4%] and unilateral cochlear implants, 51.0% [95% CI, 49.4%-52.6%]). School-aged children in both groups experienced significantly decreased speech exposure in the early pandemic period (bilateral cochlear implants, -12.1% [-14.6% to -9.4%]; unilateral cochlear implants, -15.5% [-20.4% to -10.7%]) and late pandemic periods (bilateral cochlear implants, -5.3% [-8.0% to -2.6%]; unilateral cochlear implants, -11.2% [-15.3% to -7.1%]) compared with the prepandemic baseline. Conclusions and Relevance: This cohort study using datalogs from children using cochlear implants suggests that a sustained reduction in children's access to spoken communication was found during more than 2 years of COVID-19 pandemic-related lockdowns and school closures.

The Association Between Family Resources and Language Among Young Children Who are Deaf and Hard of Hearing.

OBJECTIVE: Our study (1) examined demographic factors in families with children with bilateral hearing loss and how they relate to Family Resource Scale (FRS) questionnaire data and (2) examined correlations between FRS data and measures of language. METHODS: Children aged 6 months to 10 years with bilateral hearing loss were enrolled. Parents completed the FRS questionnaire to assess their access to socioeconomic resources at the first language measurement visit. Assessments measured receptive and expressive language, nonverbal intelligence quotient, and adaptive functioning. RESULTS: Among the 85 children included in the analysis, approximately 40% had hearing loss classified as mild to moderate and 25% had a cochlear implant. Participants' mean FRS score was 130 (SD 16.6) (with the highest possible score of 150 and indicating better access to resources). Significant positive correlations ( p -value ≤ 0.05) were found between maternal education, paternal education, and family income and several FRS subscales (Growth and Support, Necessities in Health, Childcare, Personal Resources). Significant positive correlations were found between the Necessities in Health subscale and all the language measurements. CONCLUSION: Children whose parents reported better access to socioeconomic resources related to health care had higher language performance scores. Although early access to intervention services has improved for deaf or hard-of-hearing children, there are other variables contributing to language development, including access to socioeconomic resources. This study highlights the need for further research addressing more specific and modifiable resources to improve language performance for deaf or hard-of-hearing children.

[Prospective comparative analysis of cochlear implant patients with single-sided deafness and asymmetric hearing loss with regard to health-related quality of life, tinnitus distress and psychological comorbidities]. / Prospektive Vergleichsanalyse von CI-Patienten mit einseitiger Taubheit und asymmetrischem Hörverlust hinsichtlich der gesundheitsbezogenen Lebensqualität, Tinnitusbelastung und psychischen Komorbiditäten.

BACKGROUND: Patients with single-sided deafness (SSD) and asymmetric hearing loss (AHL) are increasingly being treated with cochlear implants (CI) due to the demonstrated improvements in auditory abilities and quality of life. To date, there are few published studies in which these two groups are comparatively studied. The aim of the current study was to examine which factors differ between those two patient groups, especially preoperatively. METHODS: A secondary analysis of the previously published raw data of 66 prospectively recruited CI patients (21 SSD/45 AHL) was performed. In addition to the hearing outcome, tinnitus distress (tinnitus questionnaire), health-related quality of life (Nijmegen Cochlear Implant Questionnaire, NCIQ), stress (Perceived Stress Questionnaire, PSQ), and psychological comorbidities (General Depression Scale, ADS­L and Generalized Anxiety Disorder scale, GAD-7) were assessed in SSD and AHL patients pre- and postoperatively. RESULTS: Preoperatively, SSD patients showed significantly higher scores in the NCIQ subdomains "elementary" and "advanced sound perception" than the AHL group. Stress (PSQ) and anxiety symptoms (GAD-7) were significantly higher preoperatively in SSD patients than in AHL patients. After CI, these differences were strongly reduced, with minimal differences being detectable between the groups in the investigated domains postoperatively. CONCLUSION: SSD and AHL patients differ significantly preoperatively in terms of their subjective hearing assessment and psychosocial parameters. In SSD patients, psychological stress factors may have a stronger impact on the quality of life than in AHL patients. These aspects should be taken into account in the preoperative counseling and postoperative rehabilitation.

Associations of childhood hearing loss and adverse childhood experiences in deaf adults.

Childhood trauma and adverse childhood experiences have a strong relationship with health disparities across the lifespan. Despite experiencing approximately doubled rates of trauma, Adverse Childhood Experiences (ACEs) are poorly characterized in deaf populations. We sought to characterize deaf-specific demographic factors and their association with multiple experiences of ACEs before the age of 18 years old. An analytical cross-sectional approach was used to ascertain associations of deaf-specific demographic factors and experiences with ACEs. The complete dataset included 520 participants for a total response rate of 56%. After adjusting for confounding effects, less severe hearing loss of 16-55 dB (2+ OR: 5.2, 4+ OR: 4.7), having a cochlear implant (2+ OR: 2.1, 4+ OR: 2.6), and not attending at least one school with signing access (2+ OR: 2.4, 4+ OR: 3.7) were significantly and independently associated with reported experiences of multiple ACEs. We conclude that factors associated with childhood hearing loss and language experiences increase risk of experiencing ACEs. Given the strong relationship between ACEs and poor social outcomes, early intervention clinical practice and health policies should consider interventions to support healthy home environments for deaf children.

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.

Hearing Loss and Dementia Prevalence in Older Adults in the US.

This study assesses the association of audiometric hearing loss and hearing aid use with dementia among community-dwelling older US Medicare beneficiaries.

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide.

OBJECTIVES: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide. DESIGN: This population-based cohort study analyzed the frequency of common deafness-associated variants in 3,555,336 newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Participants were newborn infants born between January 2007 and September 2020. Limited genetic screening for 20 variants in 4 common deafness-associated genes and newborn hearing screening were offered concurrently to all newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Sequence information of 141,456 individuals was also analyzed from seven ethnic populations from the Genome Aggregation Database for 20 common deafness-related variants. Statistical analysis was performed using R. RESULTS: A total of 3,555,326 Chinese neonates completed the Newborn Concurrent Hearing and Genetic Screening were included for analysis. We reported the distinct landscape of common deafness-associated variants in this large population-based cohort. We found that the carrier frequencies of GJB2 , SLC26A4 , GJB3 , and MT-RNR were 2.53%, 2.05%, 0.37%, and 0.25%, respectively. Furthermore, GJB2 c.235delC was the most common variant with an allele frequency of 0.99% in the Chinese newborn population. We also demonstrated nine East-Asia-enriched variants, one Ashkenazi Jewish-enriched variant, and one European/American-enriched variant for hearing loss. CONCLUSIONS: We showed the distinct landscape of common deafness-associated variants in the Chinese newborn population and provided insights into population-specific features in diverse populations. These data can serve as a powerful resource for otolaryngologists and clinical geneticists to inform population-adjusted genetic screening programs for hearing loss.

Reflections From the Pandemic: Lessons Learned.

During the COVID-19 pandemic, many children experienced multiple challenges while transitioning from traditional to online schooling. Teachers, administrators, and parents were expected to work together to provide students an optimal educational experience through those turbulent times. This experience generated new insights into how to teach deaf and hard of hearing (DHH) students and assess their knowledge. New tools were invented and used during the pandemic, and though teachers and students are slowly returning to traditional learning environments, educators now know that alternative forms of teaching and learning exist. We acknowledge the ways teachers, administrators, and parents can innovate and bring new knowledge to the table. The present article introduces an American Annals of the Deaf Special Issue that offers further research and discussion in the event that another, comparable challenge occurs. Multiple issues must be considered in DHH education, from academic rigor to social-emotional wellness.

Éducation précoce pour les enfants Sourds : les effets du dépistage à Saint-Étienne.

BACKGROUND: Launched in 2014, the national screening program for permanent neonatal deafness has reconfigured the care of Deaf children. By bringing forward the age of the start of care, it promotes language development and allows these children to be referred to dedicated services more quickly. OBJECTIVE: In this context of epidemiological reorganization and technological change (cochlear implantation in particular), the Family Support and Early Education Services of the Loire (Safep 42) propose a reflection of the type “evaluation of professional practices” around the mediations proposed in its service and the “educational garden” framework. METHOD: This mixed-method work combines composite data: activity reports, observations, interviews, experience capture, evaluation of professional practices. RESULTS: A decrease in the age of entry (linked to early detection) and an increase in the age of exit (due to the prevalence of children with associated disorders or complexity factors) led Safep 42 to adapt by creating new mediation, while maintaining the support provided for older children, particularly the educational garden. Safep is currently reaching its maximum capacity: in addition to this tension, there is a shortage of outpatient speech therapists and an increase in the number of deafness situations associated with multiple disabilities. The service has had to give up some of its tasks in order to be able to continue to provide proper care for the children in its care. DISCUSSION: The rehabilitation and family support program is accompanied by a longer period of care for the children and this data must be recorded by the funding authorities.

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.

La pérdida auditiva es la alteración sensorial más frecuente, con una incidencia de 1:1500 recién nacidos vivos. En más del 50% de los pacientes se asocia con una causa genética, mientras que en más del 30% de los casos se asocia con entidades sindrómicas. Se llevó a cabo una revisión de la literatura de las investigaciones sobre la pérdida auditiva congénita de origen genético en la población mexicana. Se identificaron ocho reportes en los que se demostró que las variantes patogénicas más frecuentemente asociadas con pérdida auditiva se encuentran en el gen GJB2, aunque en un porcentaje bajo (3%). Se identificaron otras mutaciones en los genes GJB6, SLC26A4 o CHD23. Con base en esta información, una posible estrategia diagnóstica en pacientes mexicanos con pérdida auditiva es considerar un primer paso en el tamiz diagnóstico con los tres genes mencionados. Si estos genes fueran negativos para variantes patogénicas, el siguiente paso sería considerar el análisis por secuenciación de segunda generación enfocado en paneles de genes asociados con pérdida auditiva, tanto aislada como sindrómica, y en caso necesario, realizar el análisis del exoma o del genoma completo. Establecer una causa etiológica es un componente crítico en la evaluación clínica de los pacientes con pérdida auditiva congénita, ya que puede ayudar a determinar las estrategias de manejo y rehabilitación, como el uso de auxiliares auditivos o implantes cocleares, proporcionar información sobre la progresión de la enfermedad y dar asesoramiento genético en esta población.

Etiology, Comorbidities, and Health Service Use in a Clinical Cohort of Children With Hearing Loss.

OBJECTIVE: To examine etiology, comorbidities, and health service use in a cohort of children with permanent hearing loss. Receiving an etiological diagnosis can inform reproductive planning, rehabilitation outcomes, predict additional disabilities, and direct intervention or management decisions. DESIGN: Retrospective audit of 518 deaf/hard-of-hearing children attending a tertiary pediatric outpatient clinic (2016-2019) using descriptive statistics. We used linear regression to investigate the relationship between degree of hearing loss, comorbidities, and health service use. RESULTS: Of the 518 children who attended the clinic, 481 (92.9%) proceeded with testing for etiology. Most children (399/518, 77.0%) were diagnosed with hearing loss by 3 mo of age. Of the children tested, the cause of hearing loss was confirmed in 234/481 (48.6%), suspected in 113/481 (23.5%), and unknown in 134/481 (27.9%); 17/341 (5.0%) had congenital cytomegalovirus (CMV), 17/320 (5.3%) had enlarged vestibular aqueducts, 67/213 (31.5%) of children with bilateral hearing loss had connexin mutation, and 25/72 (34.7%) of children with unilateral loss had hypoplastic/absent cochlear nerve on imaging. The odds of having a definitive/suspected diagnosis were twice as likely for indivduals with profound hearing loss than mild hearing loss (OR 2.1; 95% CI, 1.2-3.9; P = 0.02). The majority (348/518, 67.2%) of children had medical comorbidities, and most children attended otolaryngology (453/518, 87.5%), early intervention (358/518, 69.1%), and genetic (287/518, 55.4%) services. CONCLUSIONS: Children with hearing loss have diverse etiologies, most have comorbidities, and attend multiple services. Most families elected to proceed with diagnostic testing for etiology. Current guidelines and expanded access to genetic testing identified a confirmed/suspected etiological diagnosis in 72.1% of children tested. The number of comorbidities correlated with service use, regardless of hearing loss severity.

A 14-year nationwide epidemiological analysis of delayed endolymphatic hydrops in Japan.

BACKGROUND: Delayed endolymphatic hydrops (DEH) is an inner ear disease that causes recurrent vertigo in the ipsilateral ear or fluctuating hearing in the contralateral ear due to endolymphatic hydrops secondary to preceding deafness. There are few reports of large, multicentre studies investigating the clinical-epidemiological characteristics of DEH. OBJECTIVE: This study aimed to clarify the characteristics of DEH in Japan. METHODS: Clinical data on 662 patients with DEH were analysed by nationwide, multicentre surveys conducted by the Peripheral Vestibular Disorders Research Group of Japan. RESULTS: The proportion of ipsilateral DEH (IDEH) was slightly higher than that of contralateral DEH (CDEH) at 55.4%. The time delay between onset of precedent deafness and onset of DEH was significantly longer for CDEH than for IDEH. The most common cause of precedent deafness was a disease of unknown cause with onset in early childhood (33.1%). Epidemiological characteristics were not significantly different between CDEH with and without vertigo. CONCLUSION: DEH appearing to be caused by viral labyrinthitis has a high rate of onset within 40 years of precedent deafness. Clinical and epidemiological characteristics of IDEH, CDEH with vertigo, and CDEH without vertigo were very similar. SIGNIFICANCE: The clinical-epidemiological characteristics of DEH in Japan were clarified.

Follow-up on children with suspected bilateral congenital hearing loss identified through universal newborn hearing screening program in Taiwan: A national-based population study.

OBJECTIVE: This investigation was to ascertain the performance of the UNHS in Taiwan. METHODS: The predefined questionnaire was delivered on the phone in 2016. The descriptive analysis was applied to the research data. 941 neonates in birth cohorts 2013-2014 who were documented as a bilateral referral in the national UNHS tracking system were targeted. The respondents were either caregivers or family members. RESULTS: 40.3% of 941 children were lost to follow-up, and 66.24% of 363 children were diagnosed with SNHL. 45.15% of 163 children used hearing amplification device(s). 77.46% of hearing amplification device users and 7.51% of non-users participated in the auditory training courses. By six months of age, 38.51% and 22.58% of children diagnosed with bilateral SNHL commenced the hearing amplification device fitting and the auditory training courses, respectively. CONCLUSIONS: More efforts are needed to enhance the performance of the UNHS to achieve national goals stated in the 2014 Taiwan UNHS Revised Guidelines and the well-known benchmarks set by the JCIH in 2007. The development of an electronic tracking system for storing and sharing information on the follow-up on children with congenital hearing loss was as significant as the improvements in the understanding of early hearing detection and intervention of the public and stakeholders.