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Novel Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.
Genes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: The gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for -associated hearing loss remain unclear.
View Article and Find Full Text PDFThe Heterozygous p.A684V Variant in the Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.
Genes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: A heterozygous mutation in the gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown.
View Article and Find Full Text PDFSubcortical brain iron and its link to verbal memory in children with developmental language disorder.
Brain Lang
February 2025
Center for Childhood Deafness, Language, and Learning, Boys Town National Research Hospital, Omaha, NE.
Developmental Language Disorder (DLD) is a common neurodevelopmental condition characterized by significant difficulty with language learning, comprehension, and expression. The neurocognitive bases of DLD are underspecified but are thought to be related, in part, to altered basal ganglia (BG). The BG are known to have a high level of brain iron, which contributes to myelination and dopaminergic pathways among other physiological mechanisms.
View Article and Find Full Text PDFRemote Microphones Support Speech Recognition in Noise and Reverberation for Children With a Language Disorder.
Lang Speech Hear Serv Sch
January 2025
Center for Hearing Research, Boys Town National Research Hospital, Omaha, NE.
Purpose: Children with typical hearing and various language and cognitive challenges can struggle with processing speech in background noise. Thus, children with a language disorder (LD) are at risk for difficulty with speech recognition in poorer acoustic environments.
Method: The current study compared the effects of background speech-shaped noise (SSN) with and without reverberation on sentence recognition for children with LD ( = 9) and typical language development (TLD; = 9).
Experience of conductive hearing loss and impacts of hearing aid use throughout life.
Front Rehabil Sci
December 2024
Department of Clinical Sciences, Liverpool School of Tropical Medicine, Liverpool, United Kingdom.
Introduction: Hearing loss and Deafness/deafness affects as much as 5% of the world's population and has a considerable health and economic burden. We explored the relationship with hearing and hearing aids as well as other assistive technology for health in general with a cohort of UK adults who have conductive hearing loss. We anticipated that insights could lead to greater understanding for the delivery of assistive technology (AT) for conductive hearing loss and the participant's lived experience related to technology and society.
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