Increased risk of psychiatric disorder in patients with hearing loss: a nationwide population-based cohort study.

BACKGROUND: Hearing loss has been shown to be a risk factor for psychiatric disorders. In addition, long-term hearing loss is associated with increased hospitalization and mortality rates; however, the increased risk and duration of effect of hearing loss in combination with other chronic diseases on each psychiatric disorder are still not clearly defined. The purpose of this article is to clarify the risk of hearing loss for each disorder over time. METHODS: This was a retrospective cohort study, and a national health insurance research database in Taiwan was utilized. All (n = 1,949,101) Taiwanese residents who had a medical visit between 2000 and 2015 were included. Patients with hearing loss and a comparative retrospective cohort were analyzed. Every subject was tracked individually from their index date to identify the subjects who later received a diagnosis of a psychiatric disorder. The Kaplan‒Meier method was used to analyze the cumulative incidence of psychiatric disorders. Cox regression analysis was performed to identify the risk of psychiatric disorders. RESULTS: A total of 13,341 (15.42%) and 31,250 (9.03%) patients with and without hearing loss, respectively, were diagnosed with psychiatric disorders (P < 0.001). Multivariate analysis indicated that hearing loss significantly elevated the risk of psychiatric disorders (adjusted HR = 2.587, 95% CI 1.723-3.346, p < 0.001). CONCLUSION: Our findings indicate that patients with hearing loss are more likely to develop psychiatric disorders. Furthermore, the various psychiatric disorders are more likely to occur at different times. Our findings have important clinical implications, including a need for clinicians to implement early intervention for hearing loss and to pay close attention to patients' psychological status. Trial registration TSGHIRB No. E202216036.

Demographic Representation in Clinical Research Relative to a Cochlear Implant Patient Population.

OBJECTIVES: Research samples that are representative of patient populations are needed to ensure the generalizability of study findings. The primary aim was to assess the efficacy of a study design and recruitment strategy in obtaining a participant sample that was representative of the broader cochlear implant (CI) patient population at the CI center. A secondary aim was to review whether the CI recipient population was representative of the state population. METHODS: Demographic variables were compared for a research participant sample (n = 79) and the CI patient population (n = 338). The participant sample was recruited from the CI patient population. The study design included visits that were at the same location and frequency as the recommended clinical follow-up intervals. The demographics for the combined group (participant sample and patient population) were then compared to the reported demographics for the population in North Carolina. RESULTS: There were no significant differences between the participant sample and patient population for biological sex, age at implantation, racial distribution, socioeconomic position, degree of urbanization, or drive time to the CI center (p ≥ 0.086). The combined CI recipient population was significantly different from the North Carolina population for the distributions of race, ethnicity, and degree of urbanization (p < 0.001). CONCLUSION: The study design and recruitment strategy allowed for recruitment of a participant sample that was representative of the CI patient population. Disparities in access to cochlear implantation persist, as supported by the significant differences in the combined CI recipient population and the population for our state. LEVEL OF EVIDENCE: 3 Laryngoscope, 2024.

Spatiotemporal expression of AP-2/myosin â ¥ in mouse cochlear IHCs and correlation with auditory function.

BACKGROUND: Recycling of synaptic vesicles plays an important role in vesicle pool replenishment, neurotransmitter release and synaptic plasticity. Clathrin-mediated endocytosis (CME) is considered to be the main mechanism for synaptic vesicle replenishment. AP-2 (adaptor-related protein complex 2) and myosin Ⅵ are known as key proteins that regulate the structure and dynamics of CME. OBJECTIVE: This study aims to reveal the spatiotemporal expression of AP-2/myosin Ⅵ in inner hair cells (IHCs) of the mouse cochlea and its correlation with auditory function. MATERIAL AND METHODS: Immunofluorescence was used to detect the localization and expression of AP-2 and myosin Ⅵ in cochlear hair cells (HCs) of CBA/CaJ mice of various ages. qRT-PCR was used to verify the differential expression of AP-2 and myosin Ⅵ mRNA in the mouse cochlea, and ABR tests were administered to mice of various ages. A preliminary analysis of the correlation between AP-2/myosin Ⅵ levels and auditory function was conducted. RESULTS: AP-2 was located in the cytoplasmic region of IHCs and was mainly expressed in the basal region of IHCs and the area near ribbon synapses, while myosin Ⅵ was expressed in the cytoplasmic region of IHCs and OHCs. Furthermore, AP-2 and myosin Ⅵ were not significant detected in the cochleae of P7 mice; the expression level reached a peak at P35 and then decreased significantly with age. The expression patterns and expression levels of AP-2 and myosin Ⅵ in the cochleae of the mice were consistent with the development of the auditory system. CONCLUSIONS AND SIGNIFICANCE: AP-2 and myosin Ⅵ protein expression may differ in mice of different ages, and this variation probably leads to a difference in the efficiency in CME; it may also cause a defect in IHC function.

Comparative executive function analysis: Cochlear implants and normal hearing in 7- to 11-year-old children from Iran.

OBJECTIVE: This study compares executive functioning in deaf children with cochlear implants and those with normal hearing. Individuals who lacked auditory stimulation during their early years might experience cognitive challenges that extend beyond just speech and language abilities. METHODS: The executive functioning abilities of a group of 32 children who were born deaf and received cochlear implants before the age of 7 were contrasted with those of 30 children with normal hearing. Both sets of children underwent assessments using the Tower of London, BRIEF, and Stroop tests. RESULTS: The average score on the Tower of London task reveals that children who received cochlear implants (4.03 ± 2.53) achieved lower scores than typically hearing children (8.37 ± 2.79). This group also exhibited higher errors in the Stroop test and slightly longer response times Additionally, in terms of emotional control assessed by the BRIEF, a higher score was recorded. Notably, significant differences between the two groups were identified for organizing materials (t(62) = -4.204, p = 0.00). The tests measuring phonemic fluency, categorical fluency, and working memory also revealed significant differences. CONCLUSIONS: The significant differences in data between both groups suggest the influence of cochlear implantation on cognitive functions. This emphasizes the importance of a holistic approach to supporting the overall development of these children.

Continuous white noise exposure during sleep and childhood development: A scoping review.

BACKGROUND: White noise machines are widely used as a sleep aid for young children and may lead to poor hearing, speech, and learning outcomes if used incorrectly. OBJECTIVE: Characterize the potential impact of chronic white noise exposure on early childhood development. METHODS: Embase, Ovid MEDLINE, the Cochrane Central Register of Controlled Trials, Scopus, and Web of Science were searched from inception through June 2022 for publications addressing the effects of chronic noise exposure during sleep on early development in animals and children. PRISMA-ScR guidelines were followed. Among 644 retrieved publications, 20 met inclusion criteria after review by multiple authors. Seven studies evaluated animal models and 13 studies examined pediatric subjects, including 83 animal and 9428 human subjects. RESULTS: White noise machines can exceed 91 dB on maximum volume, which exceeds the National Institute for Occupational Safety and Health noise exposure guidelines for a 2-h work shift in adults. Evidence suggests deleterious effects of continuous moderate-intensity white noise exposure on early development in animal models. Human subject data generally corroborates these models; however, studies also suggest low-intensity noise exposure may be beneficial during sleep. CONCLUSIONS: Existing data support the limitation of maximal sound intensity and duration on commercially available white noise devices. Further research into the optimal intensity and duration of white noise exposure in children is needed.

Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk families.

Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (e.g. CNVs, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. Fifty couples carrying pathogenic variants associated with ARNSHL in either GJB2 or SLC26A4 were recruited. The RHDO-based targeted linked-read sequencing combined with whole gene coverage probes was used to genotype the fetal cell-free DNA (cfDNA) of 49 families that met the quality control standard.. Fetal amniocyte samples were genotyped using invasive prenatal diagnosis (IPD) to assess the performance of NIPD. The NIPD results showed 100%(49/49) concordance with those obtained through IPD. Two families with copy number variation and recombination were also successfully identified. Sufficient specific informative SNPs for haplotyping, as well as the fetal cfDNA concentration and sequencing depth, are prerequisites for RHDO-based NIPD. This method has the merits of covering the entire genes of GJB2 and SLC26A4, qualifying for copy number variation and recombination analysis with remarkable sensitivity and specificity. Therefore, it has clinical potential as an alternative to traditional IPD for ARNSHL.

A machine learning screening model for identifying the risk of high-frequency hearing impairment in a general population.

BACKGROUND: Hearing impairment (HI) has become a major public health issue in China. Currently, due to the limitations of primary health care, the gold standard for HI diagnosis (pure-tone hearing test) is not suitable for large-scale use in community settings. Therefore, the purpose of this study was to develop a cost-effective HI screening model for the general population using machine learning (ML) methods and data gathered from community-based scenarios, aiming to help improve the hearing-related health outcomes of community residents. METHODS: This study recruited 3371 community residents from 7 health centres in Zhejiang, China. Sixty-eight indicators derived from questionnaire surveys and routine haematological tests were delivered and used for modelling. Seven commonly used ML models (the naive Bayes (NB), K-nearest neighbours (KNN), support vector machine (SVM), random forest (RF), eXtreme Gradient Boosting (XGBoost), boosting, and least absolute shrinkage and selection operator (LASSO regression)) were adopted and compared to develop the final high-frequency hearing impairment (HFHI) screening model for community residents. The model was constructed with a nomogram to obtain the risk score of the probability of individuals suffering from HFHI. According to the risk score, the population was divided into three risk stratifications (low, medium and high) and the risk factor characteristics of each dimension under different risk stratifications were identified. RESULTS: Among all the algorithms used, the LASSO-based model achieved the best performance on the validation set by attaining an area under the curve (AUC) of 0.868 (95% confidence interval (CI): 0.847-0.889) and reaching precision, specificity and F-score values all greater than 80%. Five demographic indicators, 7 disease-related features, 5 behavioural factors, 2 environmental exposures, 2 hearing cognitive factors, and 13 blood test indicators were identified in the final screening model. A total of 91.42% (1235/1129) of the subjects in the high-risk group were confirmed to have HI by audiometry, which was 3.99 times greater than that in the low-risk group (22.91%, 301/1314). The high-risk population was mainly characterized as older, low-income and low-educated males, especially those with multiple chronic conditions, noise exposure, poor lifestyle, abnormal blood indices (e.g., red cell distribution width (RDW) and platelet distribution width (PDW)) and liver function indicators (e.g., triglyceride (TG), indirect bilirubin (IBIL), aspartate aminotransferase (AST) and low-density lipoprotein (LDL)). An HFHI nomogram was further generated to improve the operability of the screening model for community applications. CONCLUSIONS: The HFHI risk screening model developed based on ML algorithms can more accurately identify residents with HFHI by categorizing them into the high-risk groups, which can further help to identify modifiable and immutable risk factors for residents at high risk of HI and promote their personalized HI prevention or intervention.

Relationship between self-reported hearing and vision problems, cognitive decline, depressive symptoms, and life satisfaction in older adults: a retrospective observational study.

BACKGROUND: Sensory impairment in older adults is associated with cognitive decline, elevated depressive symptoms, and low levels of life satisfaction. However, these relationships are usually investigated separately and in pairs. This study examined these relationships comprehensively, for the first time. METHODS: The analysis included 5,658 community-dwelling older adults from the China Health and Retirement Longitudinal Study (aged 50 to 108 years, 52.1% male) who completed the Jorm Informant Questionnaire Cognitive Decline in the Elderly and the Center for Epidemiological Studies-Depression-short form. A questionnaire was used to collect information on hearing, visual status, and life satisfaction. Structural equation modelling was used to examine the direct and indirect relationships between these variables. RESULTS: Self-reported hearing and vision problems are directly associated with cognitive decline and elevated depressive symptoms. In addition, hearing and vision problems are indirectly related to cognitive decline through elevated depressive symptoms. Although hearing and vision problems had no direct effect on life satisfaction, they were indirectly associated with life satisfaction through cognitive decline and depressive symptoms. CONCLUSIONS: This study provides the first epidemiological evidence of the comprehensive relationships between hearing and vision problems, cognitive decline, depressive symptoms, and life satisfaction. When older adults report hearing and/or vision problems, clinicians and caregivers should be aware of the concurrence of declined cognition, elevated depressive symptoms, and compensated life satisfaction. Future studies should examine the causal relationships and potential mechanisms of these relationships.

Focusing on Positive Listening Experiences Improves Speech Intelligibility in Experienced Hearing Aid Users.

Negativity bias is a cognitive bias that results in negative events being perceptually more salient than positive ones. For hearing care, this means that hearing aid benefits can potentially be overshadowed by adverse experiences. Research has shown that sustaining focus on positive experiences has the potential to mitigate negativity bias. The purpose of the current study was to investigate whether a positive focus (PF) intervention can improve speech-in-noise abilities for experienced hearing aid users. Thirty participants were randomly allocated to a control or PF group (N = 2 × 15). Prior to hearing aid fitting, all participants filled out the short form of the Speech, Spatial and Qualities of Hearing scale (SSQ12) based on their own hearing aids. At the first visit, they were fitted with study hearing aids, and speech-in-noise testing was performed. Both groups then wore the study hearing aids for two weeks and sent daily text messages reporting hours of hearing aid use to an experimenter. In addition, the PF group was instructed to focus on positive listening experiences and to also report them in the daily text messages. After the 2-week trial, all participants filled out the SSQ12 questionnaire based on the study hearing aids and completed the speech-in-noise testing again. Speech-in-noise performance and SSQ12 Qualities score were improved for the PF group but not for the control group. This finding indicates that the PF intervention can improve subjective and objective hearing aid benefits.

A comprehensive review on frontotemporal dementia: its impact on language, speech and behavior.

Frontotemporal dementia (FTD) is a progressive neurodegenerative disorder defined by the selective deterioration of the frontal and temporal lobes of the brain. This comprehensive review explored the effect of FTD on language, speech, and behavior. Early symptoms include difficulty in word finding, reduced speech output, and comprehension deficits, often leading to aphasia. The study discussed the profound behavioral changes observed in FTD patients, including apathy, disinhibition, compulsive behaviors, and loss of empathy, the importance of an accurate and early diagnosis, and its challenges. We even reviewed the potential for targeted therapies and the essential role of multidisciplinary care in managing the language, speech, and behavioral aspects of FTD. By examining objective data and comprehensive research on the subject, this study offers valuable insights into FTD's profound effects on language, speech, and behavior, assisting in improved clinical management and potential therapeutic strategies for this devastating condition.

A demência frontotemporal (DFT) é uma doença neurodegenerativa progressiva definida pela deterioração seletiva dos lobos frontal e temporal do cérebro. Esta revisão abrangente explorou o efeito da DFT na linguagem, na fala e no comportamento. Os primeiros sintomas incluem dificuldade em encontrar palavras, redução da produção de fala e déficits de compreensão, muitas vezes levando à afasia. A revisão discutiu as profundas mudanças comportamentais observadas em pacientes com DFT, incluindo apatia, desinibição, comportamentos compulsivos e perda de empatia, a importância de um diagnóstico preciso e precoce e seus desafios. Também foi revisado o potencial para terapias direcionadas e o papel essencial do cuidado multidisciplinar no gerenciamento dos aspectos de linguagem, fala e comportamentais da DFT. Ao examinar os dados objetivos e a pesquisa abrangente sobre o assunto, esta revisão oferece insights valiosos sobre os efeitos profundos da DFT na linguagem, na fala e no comportamento, auxiliando no melhor manejo clínico e em possíveis estratégias terapêuticas para essa condição devastadora.

The Hearing Test App for Android Devices: Distinctive Features of Pure-Tone Audiometry Performed on Mobile Devices.

The popularity of mobile devices, combined with advances in electronic design and internet technology, has enabled home-based hearing tests in recent years. The purpose of this article is to highlight the distinctive aspects of pure-tone audiometry performed on a mobile device by means of the Hearing Test app for Android devices. The first version of this app was released a decade ago, and since then the app has been systematically improved, which required addressing many issues common to the majority of mobile apps for hearing testing. The article discusses techniques for mobile device calibration, outlines the testing procedure and how it differs from traditional pure-tone audiometry, explores the potential for bone conduction testing, and provides considerations for interpreting mobile audiometry including test duration and background noise. The article concludes by detailing clinically relevant aspects requiring special attention during testing and interpretation of results which are of substantial value to the hundreds of thousands of active users of the Hearing Test app worldwide, as well as to users of other hearing test apps.

Multidimensional Alternating Kernel Method for cortical layer segmentation in 3D reconstructed histology.

The neocortex of the brain can be divided into six layers each with a distinct cell composition and connectivity pattern. Recently, sensory deprivation, including congenital deafness, has been shown to alter cortical structure (e.g. the cortical thickness) of the feline auditory cortex with variable and inconsistent results. Thus, understanding these complex changes will require further study of the constituent cortical layers in three-dimensional space. Further progress crucially depends on the use of objective computational techniques that can reliably characterize spatial properties of the complex cortical structure. Here a method for cortical laminar segmentation is derived and applied to the three-dimensional cortical areas reconstructed from a series of histological sections from four feline brains. In this approach, the Alternating Kernel Method was extended to fit a multi-variate Gaussian mixture model to a feature space consisting of both staining intensity and a biologically plausible equivolumetric depth map. This research method•Extends the Alternating Kernel Method to multi-dimensional feature spaces.•Uses it to segment the cortical layers in reconstructed histology volume. Segmentation features include staining intensity and a biologically plausible equivolumetric depth map.•Validates results in auditory cortical areas of feline brains, two with normal hearing and two with congenital deafness.

Positive Impact of an Educational Brochure on Follow-Up for a Formal Hearing Evaluation.

Background and Objectives: Half of older persons experience serious hearing loss, yet it remains under-assessed in primary care clinics. Providers note time constraints as barriers and patients often minimize or deny their hearing loss. We tested the effectiveness of a simple hearing screen in primary care settings and whether including a brochure describing hearing loss, its consequences, and treatment would increase referrals for formal audiometric assessments. Research Design and Methods: We designed a longitudinal effectiveness study assessing three interventions: Screening alone; Screening plus a brochure handed to the person testing positive; and Screening plus the brochure with a brief review. The screening was accomplished by intake personnel. The results of a positive screen were given to the primary care practitioner. The approach was designed to enable its use across a range of primary care settings. Follow-ups occurred at 4 and 8 months. Results: A total of 111 older adults attending 7 primary care clinics screened positive for having possible hearing loss by intake personnel. A total of 46 received the educational brochure. Physicians discussed test results with two-thirds yet recommended further testing for only half of the participants. Physician recommendations were strongly motivating (OR = 9.12, 95% CI: 3.54-23.52) and those receiving the brochure were still more likely to seek further testing (OR = 2.61, 95% CI: 1.07-6.36) even when physician recommendations were controlled. Additionally, when combined, the 2 options were strongly motivating: all participants receiving both a referral and a brochure sought further testing. Discussion and Implications: A simple screen and educational brochure on hearing loss improved follow-up for a formal hearing evaluation which may improve hearing health care and minimize negative outcomes. The study also identified barriers to implementation, including how to motivate practitioners and assist intake personnel in integrating hearing screening into their routine intake procedures, supporting further research. Clinical Trials Registration Number: NCT0203713 9.

Barriers to Hearing Health Care for Aging Adults: Reframing the Conversation.

Untreated age-related hearing loss (ARHL) is associated with poor health and social outcomes. Treating hearing loss can mitigate these serious issues. Although there are documented barriers to care, we can look at these barriers and potential solutions differently if we view ARHL as a gradual onset, chronic condition. This provides a framework from which to solve problems in line with how other chronic health conditions experienced by aging adults are approached. With this lens, it becomes evident that early identification and treatment of ARHL can be supported by universal senior hearing screening, appropriate Medicare coverage for devices and services, and direct access to audiological care as well as avenues for self-care are necessary ingredients to change the hearing health care landscape.

Prevalence and Associated Factors of Sensorineural Hearing Impairment Among Patients with T2DM in Amhara Region, Northwest Ethiopia, 2022: A Multi-Centered Cross-Sectional Study.

Background: Generally, people with type 2 diabetes mellitus in various countries experience a significant rate of sensorineural hearing impairment. Nonetheless, there is scant evidence of sensorineural hearing impairment among type 2 diabetes mellitus patients in Northwest Ethiopian. Therefore, the objective of this study was to evaluate the occurrence rate and contributing factors of sensorineural hearing impairment in type 2 diabetics at comprehensive and specialized referral hospitals in Northwest Ethiopia. Methods: A facility-based cross-sectional study design was carried out from May 3, 2022, to June 14, 2022, on 846 study participants in Ethiopia, with a response rate of 99.65%. The research subjects were chosen by simple random sampling techniques. Data was gathered by using audiometric measurements and structured interview-administered questionnaires and then entered into EPI data version 4.6. Finally, it was exported to STATA 14 for analysis. Binary logistic regression, chi-square test, and odds ratio were done to verify the assumptions and degree of association. Ultimately, factors exhibiting a p-value < 0.05 with a 95% CI were regarded as significant predictors of hearing impairment. Results: The magnitude of sensorineural hearing impairment in this investigation was 50.49% (95% CI: 45.67%, 55.26%). Factors significantly associated with sensorineural hearing impairment were age (AOR=1.10, 95% CI: 1.07, 1.14), hyperlipidemia (AOR=2.86, 95% CI: 1.05, 7.82), duration of diabetes (AOR=2.26, 95% CI: 1.26, 4.06), hypertension (AOR=1.94, 95% CI: 1.02, 3.69) and regular physical exercise (AOR=0.25, 95% CI: 0.09, 0.68). Conclusions and Recommendations: In this study, relatively high rates of sensorineural hearing impairment were observed. Stakeholders should establish routine hearing screening, and participants will advise to incorporate regular physical exercise into their routines.

A hidden pathophysiology of endolymphatic hydrops: case report of a patient with spontaneous intracranial hypotension presenting with sudden sensorineural hearing loss with vertigo.

Spontaneous intracranial hypotension (SIH) is characterized by decreased cerebrospinal fluid (CSF) volume due to leakage through the dural membrane. We present the case of a patient with SIH manifested by fluctuating low-frequency hearing loss, tinnitus, and vertigo. In this patient, endolymphatic hydrops in the cochlea and saccule were visualized by means of a special sequence of inner ear magnetic resonance imaging scans, with a gadolinium-based contrast agent administered intravenously. Endolymphatic hydrops is a potential underlying pathophysiology of SIH-associated hearing impairment. We hypothesize that SIH may be a rare cause of endolymphatic hydrops.

Alterations of the cerebral microstructure in patients with noise-induced hearing loss: A diffusion tensor imaging study.

OBJECTIVE: To explore the changes in the cerebral microstructure of patients with noise-induced hearing loss (NIHL) using diffusion tensor imaging (DTI). METHOD: Overall, 122 patients with NIHL (mild [MP, n = 79], relatively severe patients [including moderate and severe; RSP, n = 32], and undetermined [lost to follow-up, n = 11]) and 84 healthy controls (HCs) were enrolled. All clinical data, including age, education level, hearing threshold, occupation type, noise exposure time, and some scale scores (including the Mini-Mental State Examination [MMSE], tinnitus handicap inventory [THI], and Hamilton Anxiety Scale [HAMA]), were collected and analyzed. All participants underwent T1WI3DFSPGR and DTI, and tract-based spatial statistics and region of interest (ROI) analysis were used for assessment. RESULTS: The final sample included 71 MP, 28 RSP, and 75 HCs. The HAMA scores of the three groups were significantly different (p < .05). The noise exposure times, hearing thresholds, and HAMA scores of the MP and RSP were significantly different (p < .05). The noise exposure time was positively correlated with the hearing threshold and negatively correlated with the HAMA scores (p < .05), whereas the THI scores were positively correlated with the hearing threshold (p < .05). DTI analysis showed that all DTI parameters (fractional anisotropy [FA], axial diffusivity [AD], mean diffusivity [MD], and radial diffusivity [RD]) were significantly different in the left inferior longitudinal fasciculus (ILF) and left inferior fronto-occipital fasciculus (IFOF) for the three groups (p < .05). In addition, the FA values were significantly lower in the bilateral corticospinal tract (CST), right fronto-pontine tract (FPT), right forceps major, left superior longitudinal fasciculus (temporal part) (SLF), and left cingulum (hippocampus) (C-H) of the MP and RSP than in those of the HCs (p < .05); the AD values showed diverse changes in the bilateral CST, left IFOF, right anterior thalamic radiation, right external capsule (EC), right SLF, and right superior cerebellar peduncle (SCP) of the MP and RSP relative to those of the HC (p < .05). However, there were no significant differences among the bilateral auditory cortex ROIs of the three groups (p > .05). There was a significant negative correlation between the FA and HAMA scores for the left IFOF/ILF, right FPT, left SLF, and left C-H for the three groups (p < .05). There was a significant positive correlation between the AD and HAMA scores for the left IFOF/ILF and right EC of the three groups (p < .05). There were significantly positive correlations between the RD/MD and HAMA scores in the left IFOF/ILF of the three groups (p < .05). There was a significant negative correlation between the AD in the right SCP and noise exposure time of the MP and RSP groups (p < .05). The AD, MD, and RD in the left ROI were significantly positively correlated with hearing threshold in the MP and RSP groups (p < .05), whereas FA in the right ROI was significantly positively correlated with the HAMA scores for the three groups (p < .05). CONCLUSION: The changes in the white matter (WM) microstructure may be related to hearing loss caused by noise exposure, and the WM structural abnormalities in patients with NIHL were mainly located in the syndesmotic fibers of the temporooccipital region, which affected the auditory and language pathways. This confirmed that the auditory pathways have abnormal structural connectivity in patients with NIHL.

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.

Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1-2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who were classified into seven phenotype subgroups. The phenotype and genomic data of patients with DD/ID were further retrospectively analyzed. There were 96/225 (42.67%; 95% confidence interval [CI] 36.15-49.18%) patients were found to have causative single nucleotide variants (SNVs) and small insertions/deletions (Indels) associated with DD/ID based on WES data. The diagnostic yields among the seven subgroups ranged from 31.25 to 71.43%. Three specific clinical features, hearing loss, visual loss, and facial dysmorphism, can significantly increase the diagnostic yield of WES in patients with DD/ID (P = 0.005, P = 0.005, and P = 0.039, respectively). Of note, hearing loss (odds ratio [OR] = 1.86%; 95% CI = 1.00-3.46, P = 0.046) or abnormal brainstem auditory evoked potential (BAEP) (OR = 1.91, 95% CI = 1.02-3.50, P = 0.042) was independently associated with causative genetic variants in DD/ID children. Our findings enrich the variation spectrums of SNVs/Indels associated with DD/ID, highlight the value genetic testing for DD/ID children, stress the importance of BAEP screen in DD/ID children, and help to facilitate early diagnose, clinical management and reproductive decisions, improve therapeutic response to medical treatment.

Prevalence, associated risk factors; and patient and economic impact of multiple sensory impairment in a multi-ethnic elderly population in Singapore: the PIONEER study.

BACKGROUND: To determine the prevalence, risk factors; and impact on patient health and economic outcomes across the laterality spectrum of multiple sensory impairment (MSI) in a multi-ethnic older Asian population. METHODS: In this population-based study of Singaporeans aged ≥ 60 years, MSI was defined as concomitant vision (visual acuity > 0.3 logMAR), hearing (pure-tone air conduction average > 25 dB), and olfactory (score < 12 on the Sniffin' Sticks test) impairments across the spectrum of laterality (any, unilateral, combination [of unilateral and bilateral], and bilateral). RESULTS: Among 2,057 participants (mean ± SD 72.2 ± 0.2 years; 53.1% female), the national census-adjusted prevalence rates of any, unilateral, combination, and bilateral MSI were 20.6%, 1.2%, 12.2%, and 7.2%, respectively. Older age, male gender, low socioeconomic status (SES), and smoking (all p < 0.05) were independently associated with higher likelihood of any MSI. Compared to those with no sensory loss, those with MSI had significantly decreased mobility (range 5.4%-9.2%), had poor functioning (OR range 3.25-3.45) and increased healthcare costs (range 4-6 folds) across the laterality spectrum. Additionally, bilateral MSI had a significant decrease in HRQoL (5.5%, p = 0.012). CONCLUSIONS: MSI is a highly prevalent medical condition, with 1 in 5; and almost 1 in 10 community-dwelling older Asians having any and bilateral MSI, respectively, with a higher likelihood in men, smokers, and those with low SES. Critically, MSI has a substantial negative impact on patient health and economic outcomes across the laterality spectrum. Sensory testing is critical to detect and refer individuals with MSI for management to improve their functional independence and QoL.

Canal-wall up cholesteatoma surgery with mastoid obliteration leads to lower rates of disease recurrence without affecting hearing outcomes.

Objectives: The primary objective was to determine whether obliteration of the epitympanic area and mastoid cavity during canal wall up (CWU) cholesteatoma surgery reduces the rate of recurrent and residual cholesteatoma compared to not obliterating the same area. The secondary objective was to compare postoperative hearing outcomes between both techniques. Methods: A retrospective cohort study was conducted in a tertiary referral center. One-hundred-fourty-three ears were included of patients (≥18y) who underwent a CWU tympanomastoidectomy for cholesteatoma with or without bony obliteration between January 2015 and March 2020 in the University Medical Center Utrecht. The median follow-up was respectively 1.4 (IQR 1.1-2.2) vs. 2.0 years (IQR 1.2-3.1) (p = 0.013). Interventions: All patients underwent CWU tympanomastoidectomy for cholesteatoma. For 73 ears bone dust, Bonalive® or a combination was used for obliteration of the mastoid and epitympanic area, the rest of the ears (n = 70) were not obliterated. In accordance with the Dutch protocol, included patients are planned to undergo an MRI scan with diffusion-weighted imaging (DWI) one, three and five years after surgery to detect recurrent or residual cholesteatoma. Main outcome measures: The primary outcome measure was recurrent and residual cholesteatoma as evaluated by MRI-DWI and/or micro-otoscopy and confirmed by micro-otoscopy and/or revision surgery. The secondary outcome measure was the postoperative hearing. Results: In this cohort, the group treated with canal wall up tympanomastoidectomy with subsequent bony obliteration (73 ears, 51.0%) had significantly lower recurrent (4.1%) and residual (6.8%) cholesteatoma rates than the group without obliteration (70 ears, 25.7% and 20.0%, respectively; p < 0.001). There was no significant difference between both groups in postoperative bone conduction thresholds (mean difference 2.7 dB, p = 0.221) as well as the mean air-bone gap closure 6 weeks after surgery (2.3 dB in the non-obliteration and 1.5 dB in the obliteration group, p = 0.903). Conclusions: Based on our results, a canal wall up tympanomastoidectomy with bony obliteration is the treatment of choice, since the recurrent and residual disease rate is lower compared to the group without obliteration. The bony obliteration technique does not seem to affect the perceptive or conductive hearing results, as these are similar between both groups.