Search results for "Deafne"
showing 10 items of 75 documents
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex
2000
International audience; Defects in myosin VIIA are responsible for deafness in the human and mouse. The role of this unconventional myosin in the sensory hair cells of the inner ear is not yet understood. Here we show that the C-terminal FERM domain of myosin VIIA binds to a novel transmembrane protein, vezatin, which we identi®ed by a yeast two-hybrid screen. Vezatin is a ubiquitous protein of adherens cell±cell junctions, where it interacts with both myosin VIIA and the cadherin±catenins complex. Its recruitment to adherens junctions implicates the C-terminal region of a-catenin. Taken together, these data suggest that myosin VIIA, anchored by vezatin to the cadherin±catenins complex, cre…
The Self-Concept of Deaf/Hard-of-Hearing and Hearing Students.
2016
The present study investigated the self-concept of deaf and hard-of-hearing (DHH) students in different educational settings compared with those of hearing students in Ethiopia. The research involved a sample of 103 Grade 4 students selected from 7 towns in Ethiopia. They were selected from a special school for the deaf, a special class for the deaf, and a regular school. The Self-Description Questionnaire I ( Marsh, 1990 ) was used to measure the children’s self-concept. The study results indicated that, in comparison with their hearing peers, DHH students had a lower self-concept in the areas of general self, general school, reading, and parental relations. The DHH students in the special…
Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience
2013
Objectives: To describe audiometric characteristics and speech perception performances of prelingually deaf Sicilian children after cochlear implantation; to identify the influence of cochlear implant (CI) user and family's characteristics on speech recognition and intelligibility outcomes. Methods: Twenty-eight infants with a congenital or acquired hearing impairment and implanted before the 3rd year of life were studied; all children suffered from bilateral sensorineural hearing loss (SNHL) with evidence of lack of hearing aids benefit and no evidence of intellectual disability. The study of the main characteristics associated with CI user and family's profile was performed with a clinica…
Born to dance but beat deaf: A new form of congenital amusia
2011
Humans move to the beat of music. Despite the ubiquity and early emergence of this response, some individuals report being unable to feel the beat in music. We report a sample of people without special training, all of whom were proficient at perceiving and producing the musical beat with the exception of one case (“Mathieu”). Motion capture and psychophysical tests revealed that people synchronized full-body motion to music and detected when a model dancer was not in time with the music. In contrast, Mathieu failed to period- and phase-lock his movement to the beat of most music pieces, and failed to detect most asynchronies of the model dancer. Mathieu’s near-normal synchronization with a…
Otitis media with effusion in children: Cross-frequency correlation in pure tone audiometry.
2019
Different guidelines are adopted in clinics and countries to assess pure tone hearing sensitivity in children with otitis media with effusion (OME). Some guidelines specify a broad range of audiometric frequencies that must be tested and from which average thresholds determined, while others leave test frequencies unspecified. For guidelines that suggest specific frequencies there are various pure tone frequencies and frequency ranges given. The present study investigated whether (1) a full range of audiometric frequencies is required to evaluate hearing loss caused by OME in children, or if neighboring frequencies provide essentially the same threshold information, and (2) if different com…
The impact of visual cues during visual word recognition in deaf readers: An ERP study
2021
Abstract Although evidence is still scarce, recent research suggests key differences in how deaf and hearing readers use visual information during visual word recognition. Here we compared the time course of lexical access in deaf and hearing readers of similar reading ability. We also investigated whether one visual property of words, the outline-shape, modulates visual word recognition differently in both groups. We recorded the EEG signal of twenty deaf and twenty hearing readers while they performed a lexical decision task. In addition to the effect of lexicality, we assessed the impact of outline-shape by contrasting responses to pseudowords with an outline-shape that was consistent (e…
High-frequency conductive hearing loss as a diagnostic test for incomplete ossicular discontinuity in non-cholesteatomatous chronic suppurative otiti…
2017
Chronic suppurative otitis media, with or without cholesteatoma, may lead to erosion of the ossicles and discontinuity of the ossicular chain. In incomplete ossicular discontinuity (IOD), partial erosion of the ossicles occurs, but some sound transmission is noted throughout the ossicular chain. High-frequency conductive hearing loss (HfCHL) has been considered a hallmark of incomplete ossicular discontinuity. This study aims to evaluate the use of HfCHL as a preoperative predictor of IOD in patients with non-cholesteatomatous chronic suppurative otitis media. The HfCHL test was defined as the preoperative air-bone gap (ABG) at 4 kHz minus the average of the ABG at 0.25 and 0.5 kHz. The tes…
Evaluation of auditory development in infants and toddlers who received cochlear implants under the age of 24 months with the LittlEARS® Auditory Que…
2010
Abstract Background and Aims Newborn hearing screening and early intervention for congenital hearing loss have created a need for tools assessing the hearing development of very young children. A multidisciplinary evaluation of children's development is now becoming standard in clinical practice, though not many reliable diagnostic instruments exist. For this reason, the LittlEARS ® Auditory Questionnaire (LEAQ) was created to assess the auditory skills of a growing population of infants and toddlers who receive hearing instruments. The LEAQ relies on parent report, which has been shown to be a reliable way of assessing child development. Results with this tool in a group of children who re…
Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.
2017
Background Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. Objective To examine hearing loss in patients with FD depending on cardiac and renal function. Material and methods Single-center study with 68 FD patients enrolled between 2012 and 2016 at the Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconst…
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
2014
Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. Methods: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. Results: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic h…