Severe Hearing Impairment Research Articles

Beyond the fingertips: imagining haptic technologies for a deafblind future

In this paper, we imagine how future technologies could support people who have severe hearing and visual impairment or a deafblind condition. Much effort has gone into assistive technologies to...

Statistical analysis plan for the FiO2-C trial: effects of closed-loop automatic control of the inspiratory fraction of oxygen (FiO2-C) on outcomes of extremely preterm infants—a randomized-controlled parallel group multicentre trial for safety and efficacy

BackgroundExtremely low gestational age neonates (ELGANs, i.e. those born before 28 weeks postmenstrual age (PMA)) often require supplemental oxygen and frequently experience intermittent hypo- and hyperoxemic episodes. Exposure to episodes with inadequate oxygen concentrations has been shown to be associated with an increased risk of retinopathy of prematurity (ROP), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC), neurodevelopmental impairment (NDI) and death. Closed-loop automatic control of the inspiratory fraction of oxygen (FiO2-C) reduces number and duration of hypo- and hyperoxemic episodes in ELGANs. Its impacts on clinically important short- and long-term outcomes such as ROP, BPD, NEC, NDI and mortality have not yet been studied.MethodsAn outcome-assessor-blinded, multicentre, randomized-controlled, parallel-group trial for superiority was designed to study the effects of FiO2-C (provided by standard infant ventilators) in addition to routine manual control (RMC) during respiratory support, compared to RMC only, on short- and long-term clinical outcomes in ELGANs. Two co-primary composite outcomes were defined: (i) death, severe ROP, BPD or NEC, assessed at 36 weeks PMA or, in case of ROP, until complete vascularization of the retina; (ii) death or NDI (defined as language/cognitive delay, motor impairment, severe visual impairment or hearing impairment), assessed at 2 years corrected age.ResultsPrimary outcomes will be compared between the two intervention groups using a Cochran-Mantel-Haenszel test. The factors considered for randomization (centre, sex and gestational age at birth (< 26 weeks and ≥ 26 weeks)) will be used to define strata. Results will be presented as adjusted odds ratios with two-sided 95% and 97.5% confidence intervals and two-sided p values.ConclusionsThe statistical analyses for the FiO2-C trial were defined in the study protocol and specified in detail in this statistical analysis plan published prior to any statistical analysis. This is in accordance with the Declaration of Helsinki and the International Conference on Harmonization Good Clinical Practice guidelines.Trial registrationClinicalTrials.gov NCT03168516. Registered on May 30, 2017.

A comprehensive evaluation on the associations between hearing and vision impairments and risk of all-cause and cause-specific dementia: results from cohort study, meta-analysis and Mendelian randomization study.

Epidemiological studies show inconsistent links between hearing/vision impairment and dementia risk. Using multisource data, we investigated how single or combined sensory impairments relate to risks of all-cause and specific types of dementia. We employed a triangulation approach combining three methodologies. We analyzed 90,893 UK Biobank (UKB) adults to explore single and joint effects of hearing and vision impairments on all-cause and Alzheimer's disease (AD), vascular dementia (VD) and non-AD non-VD (NAVD). A meta-analysis of prospective studies involving 937,908 participants provided stronger evidence. Finally, we conducted Mendelian randomization (MR) analysis using genome-wide association studies from UKB (361,194 participants) and FinnGen (412,181 participants) to validate relationships between sensory impairments and dementia occurrence. In the UKB cohort study, compared to participants with normal hearing, those in the mild and severe hearing impairment groups had progressively and significantly higher risk of all-cause dementia (mild: HR1.52, 95%CI 1.31-1.77; severe: HR1.80, 95%CI 1.36-2.38), AD (mild: HR1.63, 95%CI 1.30-2.04; severe: HR2.18, 95%CI 1.45-3.27), VD (mild: HR1.68, 95%CI 1.19-2.37; severe: HR1.47, 95%CI 1.22-1.78), and NAVD (mild: HR1.47, 95%CI 1.22-1.78; severe: HR1.98, 95%CI 1.43-2.75). Besides, vision impairment was associated with an increased risk of all-cause dementia (HR1.55, 95%CI 1.18-2.04) and NAVD (HR1.51, 95%CI 1.07-2.13). Furthermore, dual sensory impairment was associated with stepwise increased risks of all-cause and cause-specific dementia than single hearing or vision impairment. In the meta-analysis of 31 prospective cohort studies, risks of all-cause dementia and AD were elevated in participants with single hearing impairment (all-cause dementia: HR1.30, 95%CI 1.21-1.40; AD: HR1.30, 95%CI 1.21-1.40) and dual sensory impairment (all-cause dementia: HR1.63, 95%CI1.14-2.12; AD: HR 2.55, 95%CI 1.19-3.91), while single vision impairment only associated with higher risk of all-cause dementia (HR1.43, 95%CI 1.16-1.71) but not AD. Finally, the MR analysis revealed a significant association between hearing impairment and all-cause dementia (OR1.74, 95%CI 1.01-2.99), AD (OR1.56, 95%CI 1.09-2.23), and NAVD (OR1.14, 1.02-1.26), as well as vision impairment and NAVD (OR1.62, 95%CI 1.13-2.33). Our findings showed significant associations between hearing and vision impairments and increased risks of all-cause and cause-specific dementia. Standardized hearing and vision assessment and intervention should be emphasized in dementia prevention strategies.

Identifying paediatric patients at risk of severe hearing impairment after treatment for malignancies of the H&N/CNS with proton therapy

Background and purposeA risk calculation model was presented in 2021 by Keilty et al. for determining the likelihood of severe hearing impairment (HI) for paediatric patients treated with photon radiation therapy. This study aimed to validate their risk-prediction model for our cohort of paediatric patients treated with proton therapy (PT) for malignancies of the head and neck (H&N) or central nervous system (CNS). Materials and methodsThis was a single-institution study which extracted data on all patients aged ≤ 18 years treated with PT between Feb 2010 – Feb 2022 for malignancies of the H&N/CNS. The factors required for input into the Keilty model were extracted: age at PT, time since end of PT, mean cochlea dose, and platinum chemotherapy doses. Validation was performed using the statistical software R v 4.3.1, which analysed event discrimination and model calibration. Results587 patients met the criteria. Validation of the model demonstrated excellent discriminative ability, with an “optimal” cut-off value of 16% at a specificity and sensitivity of 82%. However, model calibration was less satisfactory, indicating an overestimation of risk of severe hearing loss (HI) by the model as compared to clinically observed events in our cohort, possibly linked to differences in event scoring between the model developers and this study, and short follow-up time in this study. ConclusionThe published (photon-based) model of Keilty et al. was validated in a PT context, demonstrating a high discriminative ability to determine patients at high risk versus low risk for severe HI. However the overall observed risk was lower than model predictions.

The value of magnetic resonance imaging in congenital cytomegalovirus infection: a systematic review.

Congenital cytomegalovirus (cCMV) infection can lead to severe neurodevelopmental and hearing impairments. Imaging techniques can be used both pre- and postnatally to assess early signs of infection. The objective was to provide a systematic review of current literature regarding magnetic resonance imaging (MRI) and its value to predict clinical outcome in children with cCMV. PubMed, Embase, and Web of Science were searched for studies investigating MRI in cCMV between 2016-2024. Risk of bias was assessed using Newcastle-Ottawa quality assessment scales. Descriptive synthesis was performed. Twenty studies were included. MRI detected brain abnormalities in 5.0-53.0% of infected patients prenatally and 26.9-69.0% postnatally. The three most frequently detected abnormalities included white matter lesions, subependymal cysts, and ventricular dilatation. Symptoms at birth, first trimester seroconversion, and high viral load were associated with abnormal MRI; however, brain abnormalities were still found in 33-37% of clinically asymptomatic patients. Prenatal MRI had a negative predictive value of 94-100% and a positive predictive value of 12-60% for predicting adverse clinical outcome. Five in six studies found an association between MRI abnormalities and neurodevelopmental impairments, five in eight with (congenital) hearing loss. MRI detected additional abnormalities in 5.6-19.4% of children with normal ultrasound.In conclusion,MRI can detect a wide range of brain abnormalities, both pre- and postnatally, in symptomatic and asymptomatic patients. MRI can be a helpful tool in the prediction of clinical impairments and seems complementary to ultrasound. Therefore, both fetal and neonatal MRI should be considered in the standard work-up of all cCMV-infected children.

Factors Affecting Adherence to Medications among Type2 Diabetic Patients Attending Primary Health Care Center in Cairo

Abstract Background Poor adherence to medications is a major public health problem. Non-adherence results in disease progression, reduced functional abilities, a lower quality of life, waste of medication and increase use of medical resources such as nursing homes, hospital visits and hospital admissions. Objective To measure the prevalence and factors affecting adherence to medications among T2DM patients attending primary health care center of Saraya El Quobba. To measure the agreement between MTA (Measure Treatment Adherence) and ARMS (Adherence to Refills and Medications Scale) questionnaires as a tool of measurement treatment adherence. Methods A Cross sectional study was carried out in family medicine center of Saraya El Qubba in Cairo on 130 participants who had been diagnosed T2DM at least3 months before. Patients with T1DM, Patients with known history of psychiatric illness or cognitive impairment, Patients with communication problems such as aphasia, severe hearing or visual impairment were excluded. Selection of participants was done through Systematic Random Sampling. Data about adherence was collected using structured questionnaires MTA (Measurement Treatment Adherence) and ARMS (Adherence to Refills and Medications Scale) questionnaires. Results 62.6% of our sample were females, 38.9% belonged to age group of 60-70 years, 71.8% were married, 29% had intermediate education, 61.8% were unemployed. The level of adherence among patients attending primary health centre of Saraya El Quobba was 65.6%. Many factors were found to affect medication adherence as regular monitoring of blood glucose level (76.7%), regular follow up visit (75.9%), presence of family support (20.6), monthly income (84.2%) and educational level. There was a statistically significant strong negative correlation between the 2 measurements scores (r=-0.8644, p &amp;lt; 0.001). Conclusion The level of adherence was high among the participants in the current study. Many factors were found to affect medication adherence as regular monitoring of blood glucose level, regular follow up visit, presence of family support, monthly income, both high and low educational level. Agreement between to questionnaires was found.

The relationship between Hearing Handicap Inventory for The Elderly – Screening Version (HHIE-S) Questionnaire Scores and Hearing Loss in The Elderly in Sukawati Village, Gianyar Regency

Background: Age-related hearing loss, or presbycusis, significantly impacts communication, social interaction, and cognitive function. This study examined the relationship between Hearing Handicap Inventory for the Elderly – Screening Version (HHIE-S) scores and hearing loss severity among the elderly in Sukawati Village, Gianyar. Methods: A cross-sectional study of 50 elderly participants aged 60 years and older was conducted. Data were collected using the HHIE-S questionnaire and pure-tone audiometry, and analyzed using Pearson’s correlation. Results: A strong positive correlation was found between HHIE-S scores and hearing loss severity (r = 0.896, p &lt; 0.001), indicating that higher scores correspond to more severe hearing impairment. Conclusion: The HHIE-S questionnaire is an effective tool for early detection of hearing loss in the elderly and is recommended for use in primary healthcare settings to enhance timely management and improve quality of life.

Digital speech hearing screening using a quick novel mobile hearing impairment assessment: an observational correlation study

By 2050, 1 in 4 people worldwide will be living with hearing impairment. We propose a digital Speech Hearing Screener (dSHS) using short nonsense word recognition to measure speech-hearing ability. The importance of hearing screening is increasing due to the anticipated increase in individuals with hearing impairment globally. We compare dSHS outcomes with standardized pure-tone averages (PTA) and speech-recognition thresholds (SRT). Fifty participants (aged 55 or older underwent pure-tone and speech-recognition thresholding. One-way ANOVA was used to compare differences between hearing impaired and hearing not-impaired groups, by the dSHS, with a clinical threshold of moderately impaired hearing at 35 dB and severe hearing impairment at 50 dB. dSHS results significantly correlated with PTAs/SRTs. ANOVA results revealed the dSHS was significantly different (F(1,47) = 38.1, p < 0.001) between hearing impaired and unimpaired groups. Classification analysis using a 35 dB threshold, yielded accuracy of 85.7% for PTA-based impairment and 81.6% for SRT-based impairment. At a 50 dB threshold, dSHS classification accuracy was 79.6% for PTA-based impairment (Negative Predictive Value (NPV)-93%) and 83.7% (NPV-100%) for SRT-based impairment. The dSHS successfully differentiates between hearing-impaired and unimpaired individuals in under 3 min. This hearing screener offers a time-saving, in-clinic hearing screening to streamline the triage of those with likely hearing impairment to the appropriate follow-up assessment, thereby improving the quality of services. Future work will investigate the ability of the dSHS to help rule out hearing impairment as a cause or confounder in clinical and research applications.

The effect of aging and asymmetrical hearing on speech discrimination

BackgroundSpeech discrimination (SpD) is exacerbated by hearing loss, but the relationship between pure-tone audiometry (PTA) and SpD is poorly described and understood in the aging process. It is also unclear whether severity of left-right (L-R) differences in PTA threshold disproportionately affects SpD.MethodsWe conducted a retrospective cross-sectional study of a broad age range (10–99 years) of patients in Japan. Demographic data, SpD, and PTA threshold data were collected for each patient and side (L-R). We evaluated the association between chronological age and overall SpD, and SpD according to severity of PTA-threshold difference for ear pairs. Asymmetries in L-R PTA thresholds were stratified into four equally spaced categories: <10dB L-R difference to ≥40 dB L-R difference.ResultsAmong the 2760 eligible participants, data from 5508 ears are analyzed. Overall SpD gradually decreases with age, with SpD scores in the oldest groups being significantly worse (Kruskal-Wallis followed by Dunn’s test; p < 0.0001) than those of the youngest group. Comparison of worse-hearing ears to better-hearing ears within the same severity of hearing impairment reveals significant differences on SpD in ears that have moderate or severe hearing impairment (p < 0.0001). Post-hoc analysis identifies significant differences in SpD between the worse-hearing ears and the better-hearing ears that have hearing differences of 20 dB or more.ConclusionsSpD is dramatically affected by age and asymmetrical hearing. Therefore, appropriate audiological interventions should be proactively considered according to an individual’s hearing level, age, and difference in L-R hearing levels.

Asociación entre las cadenas ligeras de neurofilamento en suero (sNfL) y los trastornos neurológicos en una muestra representativa de adultos en los Estados Unidos: un estudio transversal

BackgroundWhile increased neurofilament light chain (NfL) in serum concentrations are linked to the progression of several neurological conditions, their distribution and implications within the general adult population remain largely unexplored. The current research aims to clarify the relationship among serum NfL levels and neurological disorders in a broad and representative population sample. MethodsWe utilized information gathered from 1,751 adults involved in the 2013-2014 cycle of the National Health and Nutrition Examination Survey (NHANES). Our analytical approach encompassed logistic regression, smoothed curve fitting, and subgroup analyses to identify potential correlations between serum NfL levels and neurological conditions, including depression, severe hearing and visual impairments, stroke, subjective memory deficits, and sleep problems. ResultsAfter adjusting for confounders, we found that higher serum NfL concentrations were significantly associated with increased risks of depression, stroke, subjective memory deficits, and longer sleep duration (P<.05). Subgroup analyses supported these findings. Additionally, BMI significantly influenced the relationship between serum NfL levels and subjective memory deficits. ConclusionOur research shows that higher serum NfL levels are strongly related to an elevated risk for several neurological disorders. These findings highlight the role of serum NfL serving as a critical marker for early detection and monitoring of neurological conditions, emphasizing its importance in both clinical and public health settings.

Exploring factors influencing the hearing test and hearing aid adoption among Japanese older adults: Implications of recognizing the hearing loss–dementia relationship

ObjectiveThe hearing aid adoption rate among older adults in Japan is lower than that in other developed countries. Herein, a survey was conducted to identify this bottleneck and develop countermeasures. This study aimed to examine whether raising awareness of the relationship between hearing loss and dementia is significant for hearing tests and adopting hearing aids. MethodsA questionnaire was administered to participants aged 65 or older who visited a general hospital to determine the background factors (1) for a recent history of hearing tests, (2) for the desire to visit an otolaryngologist and have a hearing test, (3) for recognizing the hearing loss–dementia relationship, and (4) for adopting hearing aids. ResultsA total of 517 patients (mean age, 78.06; SD 6.97), representing 2.4% of the region's older-adult population, participated in the survey. A history of hearing tests within five years was significantly associated with recognizing the hearing loss–dementia relationship (adjusted OR 2.36, 95% CI 1.49–3.72). The desire to visit an otolaryngologist or have a hearing test was significantly associated with recognizing the hearing loss–dementia relationship (adjusted OR 1.70, 95% CI 1.02–2.85). Moreover, 39.3% were aware of the hearing loss–dementia relationship. The significant associated factors were being female (OR 2.50, 95% CI 1.64–3.81) and having interpersonal hobbies (OR 1.66, 95% CI 1.11–2.49). The significant background factors for adopting hearing aids were older age (OR 6.95, 95% CI 1.90–25.40), self-reported severe hearing impairment (OR 5.49, 95% CI 2.55–11.80), and living alone (OR 2.63, 95% CI 1.18–5.89). Recognizing the hearing loss–dementia relationship was not a significant factor. ConclusionRaising awareness of the hearing loss–dementia relationship was not associated with adopting hearing aids for self-reported hearing impairments. However, it may be associated with otolaryngology visits and hearing tests. Thus, steps like hearing screening for older adults are also essential.

Exploring the Link Between Oral Health Factors and Hearing Impairments in Children: A Cross-Sectional Study.

Background Hearing-impaired children may face challenges in communication, social interaction, academic performance, and emotional well-being, which can have a notable impact on their overall quality of life. Beyond these challenges, oral health can also be significantly impacted. The relationship between hearing impairment and dental diseases is an intriguing and interconnected aspect of overall well-being that merits attention and exploration. This study aimed to assess the relationship between various oral health factors and hearing impairments. Methodology This cross-sectional study involved 90 hearing-impaired children aged 6-12 years. To evaluate the children's hearing abilities, diagnostic tools such as pure-tone audiometry were employed. To measure dental health, the decayed, missing, and filled teeth (DMFT) and decayed, missing, and filled primary teeth (dmft) indices, as well as plaque index (PI) and gingival index (GI) were calculated. The chi‑square test was used to identify significant differences between genders. Spearman's test was used to determine the correlation between variables. Results The severity of hearing impairment varied, with 5.6% having severe hearing loss, 8.9% having profound hearing loss, and 85.6% having complete hearing loss. The mean DMFT score was 2.5 ± 1.86, with no significant difference observed between males and females. The mean dmft score was 4.2 ± 3.12, with no significant difference between genders. However, there was a difference in the PI scores between males and females. Males presented a higher PI score of 2.6 ± 0.09 compared to 1.8 ± 0.08 for females. The overall mean PI was 2.1 ± 0.80. The mean GI was 1.5 ± 0.90, and no significant difference was observed between males and females. Spearman's test identified a significant positive correlation between the severity of hearing impairment and both PI scores (p = 0.000) and GI scores (p = 0.000). Conversely, the severity of hearing impairment showed a weak positive correlation with both DMFT scores (p = 0.487) and dmft scores (p = 0.229), but these correlations were not statistically significant. Conclusions The connection between oral health and severe hearing impairment in children is significant and has potential implications. Pediatric healthcare providers, including dentists and audiologists, need to work collaboratively to monitor the oral and aural health of young patients.

Association between serum neurofilament light chains (sNfL) and neurologic disorders in a representative sample of US adults: a cross-sectional study

BackgroundWhile increased neurofilament light chain (NfL) in serum concentrations are linked to the progression of several neurological conditions, their distribution and implications within the general adult population remain largely unexplored. The current research aims to clarify the relationship between serum NfL levels and neurological disorders in a broad and representative population sample. MethodsWe utilized information gathered from 1751 adults involved in the 2013–2014 cycle of the National Health and Nutrition Examination Survey . Our analytical approach encompassed logistic regression, smoothed curve fitting, and subgroup analyses to identify potential correlations between serum NfL levels and neurological conditions, such as depression, severe hearing and visual impairments, stroke, subjective memory deficits, and sleep problems. ResultsAfter adjusting for all confounders, we found that higher serum NfL levels were significantly associated with increased risks of depression, stroke, subjective memory deficits, and longer sleep duration (p < 0.05). Subgroup analyses supported these findings. Additionally, BMI significantly influenced the relationship between serum NfL levels and long-term subjective memory decline. ConclusionOur research shows that higher serum NfL levels are strongly related to an elevated risk for several neurological disorders. These findings highlight the role of serum NfL serving as a critical marker for early detection and monitoring of neurological conditions, emphasizing its importance in both clinical and public health settings.

Research status and progress of bilateral cochlear implantation

With the development of social economic and technology, Cochlear Implantation has became an effective therapy for patients who suffered from severe or profound hearing impairment. In the meantime, patients' demands for sound and auditory quality are also increasing. In terms of speech recognition, localization, and auditory quality, bilateral hearing is closer to the auditory experience of normal individuals, so bilateral cochlear implantation（BCI） emerged as the times require. In this article, we will introduce the status and progress of bimodal regarding to the following aspects: the brief history, the advantages of BCI, different methods for BCI, and the problems encountered in BCI.

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

MPDZ, a gene with diverse functions mediating cell-cell junction interactions, receptor signaling, and binding multivalent scaffold proteins, is associated with a spectrum of clinically heterogeneous phenotypes with biallelic perturbation. Despite its clinical relevance, the mechanistic underpinnings of these variants remain elusive, underscoring the need for extensive case series and functional investigations. In this study, we conducted a systematic review of cases in the literature through two electronic databases following the PRISMA guidelines. We selected nine studies, including 18 patients, with homozygous or compound heterozygous variants in MPDZ and added five patients from four unrelated families with novel MPDZ variants. To evaluate the role of Mpdz on hearing, we analyzed available auditory electrophysiology data from a knockout murine model (Mpdzem1(IMPC)J/em1(IMPC)J) generated by the International Mouse Phenotyping Consortium. Using exome and genome sequencing, we identified three families with compound heterozygous variants, and one family with a homozygous frameshift variant. MPDZ-related disease is clinically heterogenous with hydrocephaly, vision impairment, hearing impairment and cardiovascular disease occurring most frequently. Additionally, we describe two unrelated patients with spasticity, expanding the phenotypic spectrum. Our murine analysis of the Mpdzem1(IMPC)J/em1(IMPC)J allele showed severe hearing impairment. Overall, we expand understanding of MPDZ-related phenotypes and highlight hearing impairment and spasticity among the heterogeneous phenotypes.

AAV-mediated Gene Cocktails Enhance Supporting Cell Reprogramming and Hair Cell Regeneration.

Mammalian cochlear hair cells (HCs) are essential for hearing, and damage to HCs results in severe hearing impairment. Damaged HCs can be regenerated by neighboring supporting cells (SCs), thus the functional regeneration of HCs is the main goal for the restoration of auditory function in vivo. Here, cochlear SC trans-differentiation into outer and inner HC by the induced expression of the key transcription factors Atoh1 and its co-regulators Gfi1, Pou4f3, and Six1 (GPAS), which are necessary for SCs that are destined for HC development and maturation via the AAV-ie targeting the inner ear stem cells are successfully achieved. Single-cell nuclear sequencing and lineaging tracing results showed that the majority of new Atoh1-derived HCs are in a state of initiating differentiation, while GP (Gfi1, Pou4f3) and GPS (Gfi1, Pou4f3, and Six1) enhanced the Atoh1-induced new HCs into inner and outer HCs. Moreover, the patch-clamp analysis indicated that newborn inner HCs induced by GPAS forced expression have similar electrophysiological characteristics to those of native inner HCs. Also, GPAS can induce HC regeneration in the HC-damaged mice model. In summary, the study demonstrates that AAV-mediated co-regulation of multiple genes, such as GPAS, is an effective means to achieve functional HC regeneration in the mouse cochlea.

A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.

Usher syndrome 1 (USH1) is the most severe subtype of Usher syndrome characterized by severe sensorineural hearing impairment, retinitis pigmentosa, and vestibular areflexia. USH1 is usually induced by variants in MYO7A, a gene that encodes the myosin-VIIa protein. Myosin-VIIA is effectively involved in intracellular molecular traffic essential for the proper function of the cochlea, the retinal photoreceptors, and the retinal pigmented epithelial cells. In this study, we report a new homozygous missense variant (NM_000260.4: c.1657C > T p.(His553Tyr)) in MYO7A of a 28-year-old female with symptoms consistent with USH1. This variant, c.1657C > T p.(His553Tyr) is positioned in the highly conserved myosin-VIIA motor domain. Previous studies showed that variants in this domain might disrupt the ability of the protein to bind to actin and thus cause the disorder. Our findings contribute to our understanding of the phenotypic and mutational spectrum of USH1 associated with autosomal recessive MYO7A variants and emphasize the important role of molecular testing in accurately diagnosing this syndrome. More advanced research is required to understand the functional effect of the identified variant and the genotype-phonotype correlations of MYO7A-related Usher syndrome 1.

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

Prevalence of Cognitive Impairment and Risk Factors among Elderly in Rawalpindi, Pakistan: A cross-Sectional study

Objective: The study aimed to find out the prevalence of cognitive impairment and risk factors among elderly. Study Design and setting: Descriptive cross-sectional study was conducted in elderly population of Rawalpindi. Methodology: The study was conducted from October 2020 to February 2021. After getting approval from the ethical committee, data was collected using a semi structured questionnaire. The sample of 446 participants, raised through nonprobability convenient sampling technique. Participants aged above 60 years, both genders were included however individuals who had severe head injury, depression, severe hearing and visual impairment, delirium and not willing to participate were excluded from study. Informed consent was obtained from all participants. Data was analyzed by using SPSS v24. Results: Overall mean age of sample was 69±4.6 years. Overall prevalence of cognitive impairment was 35.4 %. Among them 134 (30%) had mild cognitive impairment and 24 (5.4%) had dementia. The prevalence of cognitive impairment increases with age being higher (64.2%) at 70 years and above than at 60-69 years of age. Females 82 (61%) had high prevalence of MCI than males 52 (39%). Age, gender, hypertension, diabetes, and physical activity were significantly associated with cognitive impairment. Data was analyzed using SPSS version 24. Descriptive statistics were applied. Pearson chi square of independence was used to find the association of various factors. The p value less than 0.05 was considered significant. Conclusion: Cognitive impairment increases with the increasing age and was more prevalent among females. Hypertension, Diabetes, physical activity were modifiable risk factors for cognitive impairment

Demystifying the Digital Divide: Disparities in Telerehabilitation Readiness Among Older Adults in the United States

ObjectiveTo estimate readiness of older rehabilitation users in the United States to participate in video-based telerehabilitation and assess disparities in readiness among racial and ethnic minoritized populations, socioeconomically disadvantaged populations, and rural-dwelling older adults. DesignRetrospective cohort study using nationally representative survey data from the National Health and Aging Trends Study from 2015 and 2020. Survey-weighted regression models, accounting for complex survey design, were used to generate estimates of readiness and evaluate disparities across racial and ethnic, socioeconomic, and geographic subgroups. Odds ratios (OR) and 95% confidence intervals (CIs) were estimated for each comparison. SettingHome or community rehabilitation environments. ParticipantsA cohort of 5274 home or community-based rehabilitation users aged 70 years or older (N=5274), representing a weighted 33,576,313 older adults in the United States. InterventionsNot applicable. Main Outcome Measure(s)Video-based telerehabilitation readiness was defined consistent with prior work; unreadiness was defined as lacking ownership of internet-enabled devices, limited proficiency of use, or living with severe cognitive, visual, or hearing impairment. Telerehabilitation readiness was categorized as “Ready” or “Unready”. ResultsApproximately 2 in 3 older rehabilitation users were categorized as ready to participate in video-based rehabilitation. Significantly lower rates of readiness were observed among those living in rural areas (OR=0.75, 95% CI: 0.60-0.94), financially strained individuals (OR=0.37, 95% CI: 0.26-0.53), and among individuals identifying as Black or Hispanic (as compared with non-Hispanic White older adults: Non-Hispanic Black [OR=0.23, 95% CI: 0.18-0.30]; Hispanic [OR=0.17, 95% CI: 0.11, 0.27]). ConclusionsOur findings highlight significant disparities in the readiness to uptake video-based telerehabilitation. Policy and practice interventions to address telerehabilitation readiness should focus not only on improving broadband access but also on technology ownership and training to ensure equitable adoption in populations with lower baseline readiness.