Deafness is one of the most frequent congenital hearing impairments. Knowledge of its causes will result in elimination of risk factors and applying prophylactic activities. It is recognized that about 40% of hearing impairments have genetic origin and 80% of these are autosomal recessive. Introducing molecular diagnosis to medical practice makes precise identification of hearing impairment and genetic counseling possible. The authors present results of DNA examination in patients with hereditary deafness, performed at the National Research Institute of Mother and Child in Warsaw. Genetic cause of deafness was confirmed in 60% cases.
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Int J Lang Commun Disord
January 2025
Cardiff School of Sport and Health Sciences, Cardiff Metropolitan University, Cardiff, UK.
Background: There is a growing body of evidence showing the value of community singing-based rehabilitation on psychosocial well-being and communication for people with post-stroke communication impairment (PSCI). However, there has been little consideration of the potential value an inpatient aphasia-friendly choir may have through the perspective of the stroke multidisciplinary team (MDT).
Aims: To explore the experiences and views of the MDT on the role an established inpatient aphasia-friendly choir, at a stroke rehabilitation centre in South Wales, UK, may play in the rehabilitation of people with PSCI.
Heliyon
July 2024
Key Laboratory of Cognition and Personality (Ministry of Education), Southwest University, Chongqing, China.
Background: Deaf college students have been found to experience more difficulties in emotion regulation due to their hearing loss. However, few studies have used neurological measures to assess the characteristics of implicit emotion regulation among deaf college students.
Methods: 30 typical hearing college students and 27 deaf college students completed the implicit emotion regulation task while recording ERP data.
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
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January 2025
Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.
Objectives: This study was designed to (1) compare preactivation and postactivation performance with a cochlear implant for children with functional preoperative low-frequency hearing, (2) compare outcomes of electric-acoustic stimulation (EAS) versus electric-only stimulation (ES) for children with versus without hearing preservation to understand the benefits of low-frequency acoustic cues, and (3) to investigate the relationship between postoperative acoustic hearing thresholds and performance.
Design: This was a prospective, 12-month between-subjects trial including 24 pediatric cochlear implant recipients with preoperative low-frequency functional hearing. Participant ages ranged from 5 to 17 years old.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
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