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Objective: Unilateral sensorineural hearing loss (USNHL) is a condition commonly encountered in otolaryngology clinics. However, its molecular pathogenesis remains unclear. This study aimed to investigate the genetic underpinnings of childhood USNHL and analyze the associated audiological features. Study Design: Retrospective analysis of a prospectively recruited cohort. Setting: Tertiary referral center. Methods: We enrolled 38 children with USNHL between January 1, 2018, and December 31, 2021, and performed physical, audiological, imaging, and congenital cytomegalovirus (cCMV) examinations as well as genetic testing using next‐generation sequencing (NGS) targeting 30 deafness genes. The audiological results were compared across different etiologies. Results: Causative genetic variants were identified in 8 (21.1%) patients, including 5 with GJB2 variants, 2 with PAX3 variants, and 1 with the EDNRB variant. GJB2 variants were found to be associated with mild‐to‐moderate USNHL in various audiogram configurations, whereas PAX3 and EDNRB variants were associated with profound USNHL in flat audiogram configurations. In addition, whole‐genome sequencing and extended NGS targeting 213 deafness genes were performed in 2 multiplex families compatible with autosomal recessive inheritance; yet no definite causative variants were identified. Cochlear nerve deficiency and cCMV infection were observed in 9 and 2, respectively, patients without definite genetic diagnoses. Conclusion: Genetic underpinnings can contribute to approximately 20% of childhood USNHL, and different genotypes are associated with various audiological features. These findings highlight the utility of genetic examinations in guiding the diagnosis, counseling, and treatment of USNHL in children. [ABSTRACT FROM AUTHOR]

Aims: To investigate the effect of sensory impairment on quality of life in older adults and to assess the role of physical function as a mediator of the effect of the sensory impairment on quality of life. Design: A cross‐sectional study. Methods: Older adults aged ≥65 years (N = 600) were recruited from January 2019 to May 2020. Hearing and visual function were measured with pure‐tone audiometry and Snellen visual acuity tests, respectively. Quality of life (World Health Organization Quality of Life Scale Brief Version), physical function (Multidimensional Functional Assessment Questionnaire) and sociodemographic characteristics were reported by participants using interviewer‐administered questionnaires. Propensity score weighting analysis was conducted based on generalized propensity scores via multinominal logistic regression for age, gender, education, income, and comorbidities. The difference in the quality of life was tested by applying a one‐way analysis of variance. Multiple mediation analysis was conducted to explore the direct, indirect, and total effects of sensory impairment on quality of life through physical function. Results: After propensity score weighting adjustment, when compared with participants with no sensory impairment, participants with dual sensory impairment had the worst quality of life, followed by visual impairment and then hearing impairment. Physical function statistically significantly mediated the effect of hearing impairment, visual impairment and dual sensory impairment on quality of life in older adults. Conclusion: Our findings demonstrated that the negative effect of the sensory impairment on quality of life in older adults was mediated through physical function. Impact The convergence of an increasing ageing population and the prevalence of sensory impairment presents a significant global health burden. This study demonstrated that physical function was a mediator of quality of life in older adults. Designing appropriate physical activity interventions for older adults with sensory impairment could serve to enhance physio‐psychological health and improve quality of life. [ABSTRACT FROM AUTHOR]

Keywords: audit; cochlear implants; communication; diagnosis; genetics; hearing loss; inner ear; outcomes; sensorineural hearing loss EN audit cochlear implants communication diagnosis genetics hearing loss inner ear outcomes sensorineural hearing loss 341 346 6 02/17/22 20220301 NES 220301 Key Points LEOPARD syndrome is a rare hereditary disease characterised by several congenital defects in multiple organs, including sensorineural hearing impairment. The CI outcomes in LEOPARD syndrome patients are influenced by the I PTPN11 i genotypes because different I PTPN11 i mutations confer different pathogenicity on neurocognitive development. Audit, communication, diagnosis, genetics, inner ear, outcomes, sensorineural hearing loss, cochlear implants, hearing loss The authors attributed the unfavourable outcome to the patient's underlying cerebral palsy and late implantation.3 Nierop et al.4 reported another patient with LEOPARD syndrome caused by the I PTPN11 i p.Y279C mutation who received bilateral sequential CI at the ages of 1 years 4 months and 1 years 10 months. [Extracted from the article]