Hearing Loss and Associated 7-Year Cognitive Outcomes Among Hispanic and Latino Adults.

Importance: Hearing loss appears to have adverse effects on cognition and increases risk for cognitive impairment. These associations have not been thoroughly investigated in the Hispanic and Latino population, which faces hearing health disparities. Objective: To examine associations between hearing loss with 7-year cognitive change and mild cognitive impairment (MCI) prevalence among a diverse cohort of Hispanic/Latino adults. Design, Setting, and Participants: This cohort study used data from a large community health survey of Hispanic Latino adults in 4 major US cities. Eligible participants were aged 50 years or older at their second visit to study field centers. Cognitive data were collected at visit 1 and visit 2, an average of 7 years later. Data were last analyzed between September 2023 and January 2024. Exposure: Hearing loss at visit 1 was defined as a pure-tone average (500, 1000, 2000, and 4000 Hz) greater than 25 dB hearing loss in the better ear. Main outcomes and measures: Cognitive data were collected at visit 1 and visit 2, an average of 7 years later and included measures of episodic learning and memory (the Brief-Spanish English Verbal Learning Test Sum of Trials and Delayed Recall), verbal fluency (word fluency-phonemic fluency), executive functioning (Trails Making Test-Trail B), and processing speed (Digit-Symbol Substitution, Trails Making Test-Trail A). MCI at visit 2 was defined using the National Institute on Aging-Alzheimer Association criteria. Results: A total of 6113 Hispanic Latino adults were included (mean [SD] age, 56.4 [8.1] years; 3919 women [64.1%]). Hearing loss at visit 1 was associated with worse cognitive performance at 7-year follow-up (global cognition: ß = -0.11 [95% CI, -0.18 to -0.05]), equivalent to 4.6 years of aging and greater adverse change (slowing) in processing speed (ß = -0.12 [95% CI, -0.23 to -0.003]) equivalent to 5.4 years of cognitive change due to aging. There were no associations with MCI. Conclusions and relevance: The findings of this cohort study suggest that hearing loss decreases cognitive performance and increases rate of adverse change in processing speed. These findings underscore the need to prevent, assess, and treat hearing loss in the Hispanic and Latino community.

Ear and hearing care programs for First Nations children: a scoping review.

BACKGROUND: Ear and hearing care programs are critical to early detection and management of otitis media (or middle ear disease). Otitis media and associated hearing loss disproportionately impacts First Nations children. This affects speech and language development, social and cognitive development and, in turn, education and life outcomes. This scoping review aimed to better understand how ear and hearing care programs for First Nations children in high-income colonial-settler countries aimed to reduce the burden of otitis media and increase equitable access to care. Specifically, the review aimed to chart program strategies, map the focus of each program against 4 parts of a care pathway (prevention, detection, diagnosis/management, rehabilitation), and to identify the factors that indicated the longer-term sustainability and success of programs. METHOD: A database search was conducted in March 2021 using Medline, Embase, Global Health, APA PsycInfo, CINAHL, Web of Science Core Collection, Scopus, and Academic Search Premier. Programs were eligible or inclusion if they had either been developed or run at any time between January 2010 to March 2021. Search terms encompassed terms such as First Nations children, ear and hearing care, and health programs, initiatives, campaigns, and services. RESULTS: Twenty-seven articles met the criteria to be included in the review and described a total of twenty-one ear and hearing care programs. Programs employed strategies to: (i) connect patients to specialist services, (ii) improve cultural safety of services, and (iii) increase access to ear and hearing care services. However, program evaluation measures were limited to outputs or the evaluation of service-level outcome, rather than patient-based outcomes. Factors which contributed to program sustainability included funding and community involvement although these were limited in many cases. CONCLUSION: The result of this study highlighted that programs primarily operate at two points along the care pathway-detection and diagnosis/management, presumably where the greatest need lies. Targeted strategies were used to address these, some which were limited in their approach. The success of many programs are evaluated as outputs, and many programs rely on funding sources which can potentially limit longer-term sustainability. Finally, the involvement of First Nations people and communities typically only occurred during implementation rather than across the development of the program. Future programs should be embedded within a connected system of care and tied to existing policies and funding streams to ensure long term viability. Programs should be governed and evaluated by First Nations communities to further ensure programs are sustainable and are designed to meet community needs.

Association Between Hearing Loss and Multiple Negative Emotional States in the US Hispanic Population.

OBJECTIVE: Hearing loss (HL) has been linked to commonly studied detrimental mood states, such as loneliness and depression. However, its relationship with other negative emotions remained largely unstudied. We explore the association between HL and anxiety, anger, hostility, poor self-esteem, and pessimism in a national cohort of US Hispanic adults. STUDY DESIGN: Cross-sectional study. SETTING: Multicentered US national epidemiologic study (Hispanic Community Health Study). METHODS: Subjects were ages 18 to 75 with completed audiometric and emotional survey data. Multivariable regressions controlling for age, gender, and education were conducted to analyze the association between HL, measured by 4-frequency pure-tone average (PTA), and emotional states. States included anxiety (Spielberger Trait Anxiety Scale-10), anger (Spielberger Trait Anger Scale), hostility (Cook Medley Cynicism Scale-13), poor self-esteem (Self-Esteem Scale-10), and pessimism (Revised Life Orientation Test). RESULTS: A total of 4120 to 4341 participants met inclusion criteria, depending on the specific survey; the average age was 46.7 years (standard deviation [SD] = 13.7), and the average PTA was 13.8 dB (SD = 10.1). Controlling for age, gender, and education, HL was associated with all outcomes. Specifically, for every 10 dB worsening in HL, the anxiety score worsened by 0.41 (0.23-0.60), the anger score worsened by 0.40 (0.22-0.58), the hostility score worsened by 0.16 (0.04-0.27), the self-esteem score worsened by 0.25 (0.12-0.38), and the pessimism score worsened by 0.17 (0.04-0.30) (all p < .01). CONCLUSION: HL is related to numerous negative mood states beyond loneliness and depression. This includes worse anxiety, anger, hostility, self-esteem, and pessimism. Future studies should investigate whether treating HL improves negative emotional states.

Health disparities among Black deaf and hard of hearing Americans as compared to Black hearing Americans: A descriptive cross-sectional study.

ABSTRACT: There is a dearth of literature on health outcomes for Black people who identify as deaf or hard of hearing (DHH). Black DHH individuals generally experience at least 2 types of oppression, racism and audism, both of which contribute to health disparities within the Black and Deaf communities.To understand the prevalence of health outcomes in a Black DHH adult sample and compare this to a Black hearing sample.A descriptive cross-sectional study with primary Health Information National Trends Survey (HINTS)- American Sign Language survey data from Black DHH adults and secondary National Cancer Institute-HINTS English survey data from Black hearing adults.Black DHH adults and Black hearing adults (18 years or older).Using NCI's health information national trends survey in American Sign Language and English, self-reported data was gathered for all medical conditions as diagnosed by healthcare providers.The study showed that Black DHH adults had a higher likelihood for diabetes, hypertension, lung disease, cancer, and comorbidity compared to their hearing Black counterparts.Black DHH adults are at disparity for certain medical conditions compared to the general Black adult population. Future directions are needed to ensure that anti-racist policies include consideration of people with sensory disabilities. Inclusion of cultural and language needs of Black DHH patients in cultural humility training for healthcare providers is recommended to address health disparity in this population.

Hearing loss and hearing service experiences among older Maori and whanau: a scoping review.

AIM: Older Maori have higher rates of self-reported disabling hearing loss in Aotearoa New Zealand (NZ). However, have greater unmet need for special equipment than non-Maori. This review aims to analyse current literature on the experiences of hearing loss and hearing services among older Maori and whanau. METHOD: This scoping review was undertaken using a Kaupapa Maori approach and PRISMA guidelines. Databases were explored to identify literature focused on older Maori and whanau experiences of hearing loss and hearing services. Inclusion criteria included: literature set in the NZ context; published between 1985 and 2020; English language; focus on hard-of-hearing Maori and whanau experiencing sensorineural hearing loss. RESULTS: A total of eight sources were identified. Hearing loss is a detriment to daily functioning, partaking in conversations and retaining Maori culture. Cost and poor patient-provider interactions created barriers to hearing services for Maori with hearing loss and whanau. CONCLUSION: The last analysis of literature regarding hearing loss and hearing services for Maori was written in 1989. Inequities in hearing loss and access to hearing services remain. Research that is Maori-led and uses a Kaupapa Maori approach is needed to further understand the realities of hearing loss and hearing services for older Maori and whanau.

Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndromic hearing loss genes. EYA4 is a known hearing loss gene which is also involved in important pathways in cardiac tissue. The pleiotropic effects of rare EYA4 variants are poorly understood and their prevalence in a large cohort has not been previously reported. We investigated cardio-auditory phenotypes in 11,451 individuals in a large biobank using a rare variant, genome-first approach to EYA4. We filtered 256 EYA4 variants carried by 6737 participants to 26 rare and predicted deleterious variants carried by 42 heterozygotes. We aggregated predicted deleterious EYA4 gene variants into a combined variable (i.e. "gene burden") and performed association studies across phenotypes compared to wildtype controls. We validated findings with replication in three independent cohorts and human tissue expression data. EYA4 gene burden was significantly associated with audiometric-proven HL (p = [Formula: see text], Mobitz Type II AV block (p = [Formula: see text]) and the syndromic presentation of HL and primary cardiomyopathy (p = 0.0194). Analyses on audiogram, echocardiogram, and electrocardiogram data validated these associations. Prior reports have focused on identifying variants in families with severe or syndromic phenotypes. In contrast, we found, using a genotype-first approach, that gene burden in EYA4 is associated with more subtle cardio-auditory phenotypes in an adult medical biobank population, including cardiac conduction disorders which have not been previously reported. We show the value of using a focused approach to uncover human disease related to pleiotropic gene variants and suggest a role for genetic testing in adults presenting with hearing loss.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants are often disregarded. Determining the pathogenicity of synonymous variants may improve genetic diagnosis. We report a synonymous variant c.9861 C > T/p.(Gly3287=) in MYO15A in homozygosity or compound heterozygosity with another pathogenic or likely pathogenic MYO15A variant in 10 unrelated families with nonsyndromic sensorineural hearing loss. Biallelic variants in MYO15A were identified in 21 affected and were absent in 22 unaffected siblings. A mini-gene assay confirms that the synonymous variant leads to abnormal splicing. The variant is enriched in the Ashkenazi Jewish population. Individuals carrying biallelic variants involving c.9861 C > T often exhibit progressive post-lingual hearing loss distinct from the congenital profound deafness typically associated with biallelic loss-of-function MYO15A variants. This study establishes the pathogenicity of the c.9861 C > T variant in MYO15A and expands the phenotypic spectrum of MYO15A-related hearing loss. Our work also highlights the importance of multicenter collaboration and data sharing to establish the pathogenicity of a relatively common synonymous variant for improved diagnosis and management of hearing loss.

Associations between ethnicity, place of residence, hearing status of family and habilitation of children with hearing impairment.

BACKGROUND: Hearing parents tend to have a strong preference for their deaf and hard-of-hearing children to acquire adequate speech, as opposed to use of sign language. Research reports the contribution of many variables to speech acquisition by children with hearing loss (HL). Yet, little is known about the association between ethnicity, place of residence, and hearing status of family members and mode of communication of young people with HL. The purpose of the present study was to examine whether mode of communication of young people with HL is associated with ethnicity, place of residence, and hearing status of family members. METHOD: Participants were young adults with sensory-neural severe to profound HL, either congenital or acquired prior to age 3. Only participants without additional disabilities were included. The data on participants were extracted from records of the Ministry of Labor, Social Affairs and Social Services in Israel. The data for each participant in the study included mode of communication, gender, use of assistive device, ethnicity, geographic place of residence, and presence of first-degree relatives with HL. Regarding participants with a cochlear implant (CI), age at implantation was documented as well. RESULTS: Chi-square tests revealed significant associations between mode of communication and all of the study variables. In addition, all the study variables made a significant contribution to mode of communication. Regarding ethnicity, most of the ultra-Orthodox participants used oral language, while the majority of Israeli-Arab participants used sign language. Regarding geographical place of residence, lower rates of oral language use were found in the northern and southern districts of Israel. CONCLUSIONS: The findings of the present study underline the need for better monitoring of Israeli-Arab children with HL and children residing in peripheral areas in Israel and for improving access to habilitation services.

Combined hearing screening and genetic screening of deafness among Hakka newborns in China.

OBJECTIVE: Hearing loss (HL) can severely impact the quality of human life. To explore strategies for clinical interventions, we investigated hearing screening coupled with genetic testing of deafness among Hakka newborns. METHODS: The testing was performed on 4205 newborns who born in Heyuan of Guangdong province between December 2018 and November 2019. Hearing screening used otoacoustic emission(OAE) coupled with automatic auditory brainstem response(AABR). A total of 13 hot spot mutations in GJB2, SLC26A4, mtDNA, and GJB3 genes were screened using PCR accompanied by flow-through hybridization technology. RESULTS: Among the 4205 newborns, the number of 47 individuals who failed the hearing testing accounted for 1.12％(47/4205). The genetic screening displayed that 176 individuals(4.19%,176/4205) discovered to carry more than one mutant site. The gene carrier frequency of GJB2, SLC26A4, GJB3, and mtDNA was 2.24%, 1.76%, 0.19%, and 0.07% respectively. The most carried mutations were GJB2 c.235del (2.05%), followed by SLC26A4 c.IVS7-2A > G(1.38%). A total of 216 (5.14%, 216/4205) high-risk children detected by combined hearing screening and genetic screening of deafness. Pairwise comparison (1.12% vs 4.19% vs 5.14%) showed significant differences for the positive rate of detection(χ 2 = 11.045, P < 0.001). The difference was no statistical significance between neonatal demographics information and genetic mutations using logistic regression analysis(all P > 0.05). CONCLUSIONS: Among Hakka newborns in Heyuan, the carrier rate of GJB2 c.235delC was the highest. Combining with two screening methods will effectually increase the detection rate of neonatal deafness and play an essential role in clinical intervention.

The link between hearing impairment and child maltreatment among Aboriginal children in the Northern Territory of Australia: is there an opportunity for a public health approach in child protection?

BACKGROUND: International studies provide evidence of an association between child disabilities, including hearing impairment (HI), and child maltreatment. There are high prevalences of ear disease with associated HI, and child maltreatment among Australian Aboriginal children, but the link between HI and child maltreatment is unknown. This study investigates the association between HI and child maltreatment for Aboriginal children living in the Northern Territory (NT) of Australia. METHODS: This was a retrospective cohort study of 3895 Aboriginal school-aged children (born between 1999 and 2008) living in remote NT communities. The study used linked individual-level information from health, education and child protection services. The outcome variables were child maltreatment notifications and substantiations. The key explanatory variable, HI, was based on audiometric assessment. The Kaplan-Meier estimator method was used in univariate analysis; Cox proportional hazards regression was used in multivariable analysis. RESULTS: A majority of the study cohort lived in very remote (94.5%) and most disadvantaged (93.1%) regions. Among all children in the study cohort, 56.1% had a record of either HI or unilateral hearing loss (UHL), and for those with a history of contact with child protection services (n = 2757), 56.7% had a record of HI/UHL (n = 1564). In the 1999-2003 birth cohort, by age 12 years, 53.5% of children with a record of moderate or worse HI had at least one maltreatment notification, compared to 47.3% of children with normal hearing. In the 2004-2008 cohort, the corresponding results were 83.4 and 71.7% respectively. In multivariable analysis, using the full cohort, children with moderate or worse HI had higher risk of any child maltreatment notification (adjusted Hazard Ratios (adjHR): 1.16, 95% CI:1.04-1.30), notification for neglect (adjHR:1.17, 95% CI:1.04-1.31) and substantiation (adjHR:1.20, 95% CI:1.04-1.40), than children with normal hearing. In the 2004-2008 birth cohort, children with moderate or worse HI had higher risk of a substantiated episode of physical abuse (adjHR:1.47, 95% CI:1.07-2.03) than children with normal hearing. CONCLUSION: Our findings demonstrate the urgent need for HI and child maltreatment prevention strategies through raised community awareness and inter-agency collaboration. Effective information-sharing between service providers is a critical first step to a public health approach in child protection.

Detection of hearing problems in Aboriginal and Torres strait islander children: a comparison between clinician-administered and self-administrated hearing tests.

Objective: This study evaluated the agreement of self-administered tests with clinician-administered tests in detecting hearing loss and speech-in-noise deficits in Aboriginal & Torres Strait Islander children.Design: Children completed clinician-administered audiometry, self-administered automatic audiometry (AutoAud), clinician-administered Listening in Spatialised Noise - Sentences test and self-administered tablet-based hearing game Sound Scouts. Comparisons were made between tests to determine the agreement of the self-administered tests with clinician-administered tests in detecting hearing loss and speech-in-noise deficits.Study sample: Two hundred and ninety seven Aboriginal and Torres Strait Islander children aged 4-14 years from three schools.Results: Acceptable threshold differences of ≤5 dB between AutoAud and manual audiometry hearing thresholds were found for 88% of thresholds, with a greater agreement for older than for younger children. Consistent pass/fail results on the Sound Scouts speech-in-quiet measure and manual audiometry were found for 81% of children. Consistent pass/fail results on the Sound Scouts speech-in-noise measure and LiSN-S high-cue condition were found for 73% of children.Conclusions: This study shows good potential in using self-administered applications as initial tests for hearing problems in children. These tools may be especially valuable for children in remote locations and those from low socio-economic backgrounds who may not have easy access to healthcare.

Hearing loss and speech understanding in noise in Aboriginal and Torres Strait Islander children from locations varying in remoteness and socio-educational advantage.

OBJECTIVE: Otitis media resulting in conductive hearing loss is a major health issue for Aboriginal and Torres Strait Islander children, which can also lead to the child developing spatial processing disorder (SPD). This study examined the prevalence of hearing loss and deficits in speech understanding in noise, including SPD, in Aboriginal and Torres Strait Islander children from schools varying in remoteness and socio-educational advantage. METHOD: 288 Aboriginal and Torres Strait Islander children aged 4-14 years from three schools varying in remoteness and socio-educational advantage completed audiological assessment and the Listening in Spatialized Noise - Sentences test to assess for hearing loss and SPD. Children also completed Sound Scouts, a self-administered tablet-based hearing test which screens for these deficits. The prevalence of hearing issues was compared to what is expected from a typical population. RESULTS: The proportion of children with hearing problems was related to the school's socio-educational advantage, with higher proportions in schools with a lower socio-educational advantage. Proportions of children with speech-in-noise deficits (including SPD) was related to the remoteness of the school, with higher proportions in schools that were more remote. CONCLUSIONS: The prevalence of hearing loss and SPD is much higher in Aboriginal and Torres Strait Islander children than described for non-Aboriginal populations, and is related to the socio-educational advantage or remoteness of the school. Resources are needed to reduce the incidence of hearing loss and health disparity in Aboriginal communities, especially those in remote areas with lower socio-educational advantages.

Cognitive reserve regulates the association between hearing difficulties and incident cognitive impairment evidence from a longitudinal study in China.

BACKGROUND: Cognitive reserve (CR) can prevent the risk of incident cognitive impairment in the elderly. However, the moderator effects of CR on the link between hearing difficulties (HDs) and the risk of incident cognitive impairment are not well understood. METHODS: This cohort study obtained data from the Chinese Longitudinal Healthy Longevity Survey from 2008 to 2014. The baseline samples included 6309 participants aged 65 years and older at baseline. Cognitive impairment was assessed using the Chinese version of the Mini Mental State Examination. A composite measure of CR was calculated based on education, occupational complexity, and leisure activities of the participants. The marginal structural model was utilized to investigate whether CR moderates the association between HD and incident cognitive impairment. Odds ratios (ORs) and accompanying 95% confidence intervals (CIs) were calculated. RESULTS: Of the 6309 participants at baseline, 1936 (30.7%) developed cognitive impairment during the 6-year follow-up period and 2562 (40.6%) reported HD. The risk of incident cognitive impairment was 1.90-fold (95% CI 1.69-2.14) for participants developing HD compared to those without. Those with middle CR had lower OR (0.72, 95% CI 0.62-0.82) that further decreased to 0.58 (95% CI 0.49-0.69) for those with high CR. Participants with HD with low CR showed the highest OR (4.32, 95% CI 3.42-5.47). In addition, individuals with HD with low education levels or low complex occupations had the highest risk of incident cognitive impairment. CONCLUSIONS: CR moderates the negative association between HD and cognitive function. Education and occupation complexity may be more sensitive proxies for CR.

The impact of hearing impairment on Aboriginal children's school attendance in remote Northern Territory: a data linkage study.

OBJECTIVE: To investigate the association between hearing impairment (HI) and Year 1 school attendance in Aboriginal children in the Northern Territory (NT) of Australia. METHODS: Observational cohort study (n=3,744) by analysing linked individual-level information for Aboriginal children from the NT Government school attendance records, NT Perinatal Register and Remote Hearing Assessment dataset, and community level data for relative remoteness, socioeconomic disadvantage and housing crowdedness. RESULTS: Children with unilateral hearing loss, mild HI and moderate or worse HI had significantly lower Year 1 attendance than those with normal hearing, attending 5.6 (95%CI, -9.10 ∼-2.10), 4.0 (95%CI, -7.17 ∼-0.90) and 6.1 (95%CI, -10.71 ∼-1.49) days fewer, respectively. Other variables that yielded significant association were: male gender, having attended preschool less than 20% of available days, speaking English as second language, twin birth and average household size >5. CONCLUSIONS: Aboriginal children with any level of HI are likely to have lower school attendance rates in Year 1 than their peers with normal hearing. Implications for public health: In this population, where the prevalence of otitis media and accompanying HI remains extremely high, the early detection and management of hearing loss on entry into primary school should be included in the measures to improve school attendance.

Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.

BACKGROUND: Millions of people around the world are plagued by hearing loss. More than 50% of congenital or pre-lingual deafness is associated with genetic factors and has highly genetic heterogeneity. To date, although hundreds of genes have been found to be implicated in non-syndromic deafness, there are still lots of genes or loci that we need to verify. METHODS: In this study, we performed target sequencing and Sanger sequencing in a Kazakh consanguineous family with autosomal recessive non-syndromic hearing loss. Following that, functional and structural studies predicted the pathogenic effect of novel mutations by use of the online tools. RESULTS: We identified a novel homozygous mutation p.R3191C in MYO15A gene causing deafness in this family. The mutation p.R3191C co-segregated with the disease phenotype in this family and was not present in any public databases. Automatic tools predict that the novel mutation makes a great impact on the function and structure of MYO15A protein. CONCLUSIONS: This is a novel mutation of MYO15A causing deafness and also the first report of MYO15A mutations causing deafness in the Kazakh families. This finding expanded the spectrum of MYO15A mutations, making it more precise for future genetic diagnosis in patients with deafness.

Cultural Adaptation of a Community-Based Hearing Health Intervention for Korean American Older Adults with Hearing Loss.

Although hearing loss is known to be associated with many adverse health outcomes in older adults, current hearing healthcare remains expensive and inaccessible to most ethnic minorities in the US. We aim to adapt an affordable, community-based hearing intervention to older Korean Americans (KAs), describe the cultural adaption process, and report pilot trial outcomes. We undertook the first four stages of Barrera & Castro's cultural adaptation framework: information gathering, preliminary adaptation design, adaptation test, and adaptation refinement in 15 older KAs with hearing loss and 15 of their communication partners. We developed a culturally adapted intervention consisting of provision of an affordable listening device and aural rehabilitative training. Six weeks post-intervention, participants' mean hearing handicap score (range: 0-40) reduced from 15.7 to 6.4. Communication partners demonstrated improved social-emotional function. Post-intervention focus group revealed increased hearing benefit, confidence in hearing health navigation, and awareness in hearing health among study participants. The adapted intervention was well-accepted and feasible among older KAs. This study is the first to report the cultural adaptation process of a hearing care model into older KAs and its methodology may be applied to other minority groups.

Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.

BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic disease. PDZD7 is a new ARNSHL associated gene. Until now, nine PDZD7 biallelic mutation families with ARNSHL have been reported. Here we report a case of Chinese patient with ARNSHL linked to novel mutations in PDZD7 genes. METHOD: The pathogenic mutations were detected by whole exome sequencing for hereditary deafness-related genes of both the proband and his parents. We used kinship detection, mutational hazard prediction, genotype-phenotype correlation analysis and variation screening for potential pathogenic mutations. Re-sequencing was used to confirm the mutations by Sanger sequence. Real time quantitative PCR (RT-qPCR) was used to analyze the PDZD7 gene expression. Population-based screening for variation frequency, evolutionary conservation comparisons, pathogenicity evaluation, and protein structure prediction were conducted to assess the pathogenicity of the novel mutations of PDZD7 gene. RESULTS: We determined three variants of the PDZD7 gene that contributed to the deafness of the patient (PDZD7 c.192G > A, p. Met64Ile; c.1648C > T p. Gln550* and c.2341_2352delCGCAGCCGCAGCp. Arg781_Ser 784del). Pathogenic analysis in accordance with the ACMG/AMP Standards and Guidelines identified two novel mutations as Likely Pathogenic. The expression level of PDZD7 gene in the patient was decreased compared to the normal control (P < 0.001). CONCLUSION: Three mutations in PDZD7 gene linked to ARNSHL were identified in a Chinese pedigree. The findings expand not only our knowledge of genetic causes of ARNSHL, but also PDZD7 genes mutation spectrum of the disease. They will aid personalized genetic counseling, molecular diagnostics and clinical management of this condition.

Does access to saltwater swimming pools reduce ear pathology and hearing loss in school children of remote arid zone aboriginal communities? A prospective 3-year cohort study.

OBJECTIVE: To assess whether access to saltwater chlorinated swimming pools in remote Aboriginal communities is beneficial in reducing levels of middle ear disease and hearing loss in school children. DESIGN: A prospective 3-year cohort study of children in 10 remote Aboriginal communities in South Australia with (n = 4) or without (n = 6) swimming pools. SETTING: Outback Australia. PARTICIPANTS: Eight hundred and thirteen school-age children residing in remote South Australia. MAIN OUTCOME MEASURES: Prevalence of open and closed middle ear disease and prevalence of hearing loss. RESULTS: About 2107 ear assessments were conducted during the study period. 70.7% of children in communities with pools failed a screening test of hearing compared with 68.6% of children in non-pool communities (P = 0.637). 32.3% of children had chronic otitis media (COM). There was no difference between pool and non-pool communities in the frequency of either inactive (19.4% pool vs 22.6% non-pool; P = 0.232) or active (19.8% pool vs 17.8% non-pool; P = 0.383) COM. In children with bilateral intact tympanic membranes, 21.2% had unilateral and 20.6 had bilateral type B tympanograms. There was no difference between pool and non-pool communities in the frequency of type B tympanometry (P = 0.465). CONCLUSIONS: Hearing loss associated with both open and closed middle ear disease remains highly prevalent in children living in remote Aboriginal communities in South Australia. Access to swimming pools in this population does not appear to significantly reduce these high levels of middle ear disease or associated hearing loss.

Enhanced Speechreading Performance in Young Hearing Aid Users in China.

Purpose The study was designed primarily to determine if the use of hearing aids (HAs) in individuals with hearing impairment in China would affect their speechreading performance. Method Sixty-seven young adults with hearing impairment with HAs and 78 young adults with hearing impairment without HAs completed newly developed Chinese speechreading tests targeting 3 linguistic levels (i.e., words, phrases, and sentences). Results Groups with HAs were more accurate at speechreading than groups without HA across the 3 linguistic levels. For both groups, speechreading accuracy was higher for phrases than words and sentences, and speechreading speed was slower for sentences than words and phrases. Furthermore, there was a positive correlation between years of HA use and the accuracy of speechreading performance; longer HA use was associated with more accurate speechreading. Conclusions Young HA users in China have enhanced speechreading performance over their peers with hearing impairment who are not HA users. This result argues against the perceptual dependence hypothesis that suggests greater dependence on visual information leads to improvement in visual speech perception.

Communication and Healthcare: Self-Reports of People with Hearing Loss in Primary Care Settings.

Objectives: To assess the experiences of people with hearing loss in healthcare environments to characterize miscommunication and unmet needs, and guide recommendations for improving outcomes and access. Methods: Anonymous survey developed by subject-matter experts was posted on a large national hearing-loss consumer and advocacy organization website and email listserv. Data were collected and managed via RedCAP. Results: Responses were received from 1581 individuals. Respondents reported moderate or significant difficulty communicating with all listed providers. Three communication situations emerged as often presenting communication difficulties: hearing one's name when called in the waiting room, hearing when the speaker's back was turned, and hearing when communicating by telephone. Despite 93% of respondents indicating they sometimes or often let providers know about their hearing loss, 29.3% of all respondents still reported that no arrangements were made to improve communication. Conclusions: This study clearly demonstrates the ongoing difficulties faced by individuals with hearing loss, particularly older adults, as they attempt to navigate both providers and situations associated with a typical primary care office visit. Clinical Implications: Inexpensive and efficient changes to improve communication include (1) Improving one-on-one provider communication by facing the individual with good lighting, clear speaking, and not obstructing one's mouth; (2) Environmental changes such as using visual or tactile alerting devices in waiting rooms and adding noise-dampening carpeting and curtains; and (3) Avoiding telephones and conveying health information in writing.