Search results for " Hearing"
showing 10 items of 301 documents
IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss
2021
This article belongs to the Collection Insulin-Like Growth Factors in Development, Cancers and Aging.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
2016
Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…
Assessing Vocabulary in Deaf and Hearing Children using Finnish Sign Language.
2020
Abstract This study investigates children’s vocabulary knowledge in Finnish Sign Language (FinSL), specifically their understanding of different form-meaning mappings by using a multilayered assessment format originally developed for British Sign Language (BSL). The web-based BSL vocabulary test by Mann (2009) was adapted for FinSL following the steps outlined by Mann, Roy and Morgan (2016) and piloted with a small group of deaf and hearing native signers (N = 24). Findings showed a hierarchy of difficulty between the tasks, which is concordant with results reported previously for BSL and American Sign Language (ASL). Additionally, the reported psychometric properties of the FinSL vocabular…
Elektrophysiologische Untersuchung zum Einsatz von Streptolysin O und Natrium-Hyaluronat zur Permeabilitätsmodulation der Membran des runden Fensters…
2003
Background: The round window membrane (RWM) acts like a barrier for topically applied substances into the middle ear preventing diffusion into the perilymphatic fluid compartment. Material and Method: In an animal model, modulation of the permeability of the RWM was attempted using Streptolysin-O (SLO) in various concentrations and sodium hyaluronate. Thereafter, the effect of intratympanically applied Lidocain 2% on hearing threshold measured by auditory brainstem response was tested for Lidocain 2 % and Lidocain 2 % in combination with SLO or sodium hyaluronate. Results: The results show that both, SLO and sodium hyaluronate, influence the effect of Lidocain 2 % on hearing thresholds as a…
Auditory Event-Related Potentials in the Study of Developmental Language-Related Disorders
1997
This article reviews recent auditory event-related potential (ERP) studies of developmental language disorder (DLD) and dyslexia/reading disorder (RD). The possibility of using ERPs in searching for precursors of these disorders in the early development of infants at risk is also discussed. Differences in exogenous/sensory ERPs at the latency range of P1 and N1-P2 components have been reported between groups with DLD and RD and control groups. Latency differences between the groups may be related to a common timing deficit suggested by some researchers to be one of the possible underlying factors both in DLD and dyslexia. N1 amplitude group differences may be partly related to arousal/atten…
Deaf readers benefit from lexical feedback during orthographic processing
2019
Published: 23 August 2019 It has been proposed that poor reading abilities in deaf readers might be related to weak connections between the orthographic and lexical-semantic levels of processing. Here we used event related potentials (ERPs), known for their excellent time resolution, to examine whether lexical feedback modulates early orthographic processing. Twenty congenitally deaf readers made lexical decisions to target words and pseudowords. Each of those target stimuli could be preceded by a briefly presented matched-case or mismatched-case identity prime (e.g., ALTAR-ALTAR vs. altar- ALTAR). Results showed an early effect of case overlap at the N/P150 for all targets. Critically, thi…
Amusic does not mean unmusical: Beat perception and synchronization ability despite pitch deafness
2013
Pitch deafness, the most commonly known form of congenital amusia, refers to a severe deficit in musical pitch processing (i.e., melody discrimination and recognition) that can leave time processing--including rhythm, metre, and "feeling the beat"--preserved. In Experiment 1, we show that by presenting musical excerpts in nonpitched drum timbres, rather than pitched piano tones, amusics show normal metre recognition. Experiment 2 reveals that body movement influences amusics' interpretation of the beat of an ambiguous drum rhythm. Experiment 3 and a subsequent exploratory study show an ability to synchronize movement to the beat of popular dance music and potential for improvement when give…
Think globally: Cross-linguistic variation in electrophysiological activity during sentence comprehension
2011
This paper demonstrates systematic cross-linguistic differences in the electrophysiological correlates of conflicts between form and meaning (“semantic reversal anomalies”). These engender P600 effects in English and Dutch (e.g. Kolk et al., 2003 ; Kuperberg et al., 2003), but a biphasic N400 – late positivity pattern in German (Schlesewsky and Bornkessel-Schlesewsky, 2009), and monophasic N400 effects in Turkish (Experiment 1) and Mandarin Chinese (Experiment 2). Experiment 3 revealed that, in Icelandic, semantic reversal anomalies show the English pattern with verbs requiring a position-based identification of argument roles, but the German pattern with verbs requiring a case-based identi…