Results 61 to 70 of about 232,677 (345)

The Relative and Combined Effects of Noise Exposure and Aging on Auditory Peripheral Neural Deafferentation: A Narrative Review

Frontiers in Aging Neuroscience, 2022
Animal studies have shown that noise exposure and aging cause a reduction in the number of synapses between low and medium spontaneous rate auditory nerve fibers and inner hair cells before outer hair cell deterioration.
Adnan M. Shehabi, Adnan M. Shehabi, Garreth Prendergast, Christopher J. Plack, Christopher J. Plack   +4 more
doaj   +1 more source

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

New England Journal of Medicine, 2009
BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis.
D. Bockenhauer, S. Feather, H. Stanescu, S. Bandulik, Anselm A. Zdebik, M. Reichold, J. Tobin, E. Lieberer, C. Sterner, G. Landouré, R. Arora, T. Sirimanna, Dorothy A. Thompson, J. Cross, W. Hoff, Omar Al Masri, K. Tullus, S. Yeung, Y. Anikster, E. Klootwijk, M. Hubank, Michael J. Dillon, D. Heitzmann, M. Arcos-Burgos, Mark A. Knepper, A. Dobbie, W. Gahl, R. Warth, E. Sheridan, R. Kleta   +29 more
semanticscholar   +1 more source

Toward Complex In‐Car Environment Human–Vehicle Interactions Through Smart Glasses and sEMG‐Based Gesture Recognition

Advanced Intelligent Systems, EarlyView.
This study proposes a novel weighted random forest multimodal fusion method that combines smart glasses and sEMG data for in‐vehicle gesture interaction. It realizes stable performance in dim, occluded, and other constrained scenarios, providing feasible solutions and laying a foundation for universal human–machine interaction.
Wenbo Zhang, Wenting Wei, Kuang Li, Chuyuan Bian, Junkai Xu, Jianing Qiu, Yuxi Lu, Bin He, Shuo Jiang   +8 more
wiley   +1 more source

The impact of face coverings on audio-visual contributions to communication with conversational speech

Cognitive Research
The use of face coverings can make communication more difficult by removing access to visual cues as well as affecting the physical transmission of speech sounds.
I. R. Jackson, E. Perugia, M. A. Stone, G. H. Saunders   +3 more
doaj   +1 more source

Neuroanatomical Profiles of Deafness in the Context of Native Language Experience

Journal of Neuroscience, 2014
The study of congenitally deaf adult humans provides an opportunity to examine neuroanatomical plasticity resulting from altered sensory experience. However, attributing the source of the brain's structural variance in the deaf is complicated by the fact
O. Olulade, D. Koo, C. LaSasso, G. Eden
semanticscholar   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Cognitive skills and reading in adults with Usher syndrome type 2

Frontiers in Psychology, 2015
Objective: To investigate working memory, phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2).Design: The participants performed tests of phonological processing, lexical access, working memory and ...
Cecilia eHenricson, Cecilia eHenricson, Cecilia eHenricson, Björn eLyxell, Björn eLyxell, Björn eLyxell, Björn eLidestam, Björn eLidestam, Björn eLidestam, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller   +12 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Word Learning Ability Varies Across Contexts and Time: A Longitudinal Study of Primary School Children with Developmental Language Disorder

Autism and Developmental Language Impairments
Background and Aims Children with developmental language disorder (DLD) have difficulty learning new words, but we know little about whether and to what extent their word-learning ability improves over time.
Karla K. McGregor, Nichole Eden, Timothy Arbisi-Kelm, Jacob Oleson   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source