Search results for "AFN"
showing 10 items of 142 documents
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…
Tone perception in Mandarin-speaking school age children with otitis media with effusion.
2017
Objectives The present study explored tone perception ability in school age Mandarin-speaking children with otitis media with effusion (OME) in noisy listening environments. The study investigated the interaction effects of noise, tone type, age, and hearing status on monaural tone perception, and assessed the application of a hierarchical clustering algorithm for profiling hearing impairment in children with OME. Methods Forty-one children with normal hearing and normal middle ear status and 84 children with OME with or without hearing loss participated in this study. The children with OME were further divided into two subgroups based on their severity and pattern of hearing loss using a h…
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
1998
A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.
Sudden sensorineural hearing loss associated with inner ear lesions detected by magnetic resonance imaging.
2017
Although recent advances in magnetic resonance imaging (MRI) techniques have contributed to the detection of tiny lesions in the internal auditory canal (IAC) that may be responsible for sudden sensorineural hearing loss (SSNHL), there have been relatively few studies on the clinical characteristics of intra-labyrinthine hemorrhage (ILH) and labyrinthitis versus those regarding IAC tumors. Our purpose was to investigate the frequency of those IAC lesions on MRI and their clinical characteristics. Initial MRIs of 200 patients with SSNHL (93 men, 107 women; mean age = 48.61 years, range: 18-84 years), as well as detailed clinical histories, audiological examinations, and thyroid function, lip…
Cerebral lateralisation during signed and spoken language production in children born deaf
2019
Highlights • Children born deaf show typical left-hemisphere dominance during language production. • No evidence of an association between left-lateralisation and language proficiency. • Exposure to auditory speech via a cochlear implant is not a prerequisite for left hemisphere language dominance.
Waking and dreaming: Related but structurally independent. Dream reports of congenitally paraplegic and deaf-mute persons
2011
Models of dream analysis either assume a continuum of waking and dreaming or the existence of two dissociated realities. Both approaches rely on different methodology. Whereas continuity models are based on content analysis, discontinuity models use a structural approach. In our study, we applied both methods to test specific hypotheses about continuity or discontinuity. We contrasted dream reports of congenitally deaf-mute and congenitally paraplegic individuals with those of non-handicapped controls. Continuity theory would predict that either the deficit itself or compensatory experiences would surface in the dream narrative. We found that dream form and content of sensorially limited pe…
The Jervell and Lange-Nielsen syndrome.
1991
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. The authors describe the 4 cases they have studied, all of which presented congenital sensorineural hearing loss and electrocardiographic changes characteristic of the syndrome. The relatively high number of cases they have encountered casts doubt on literature that states that the syndrome occurs more …
Working Memory Function in Children with Single Side Deafness Using a Bone-Anchored Hearing Implant: A Case-Control Study
2018
The importance of a good hearing function to preserve memory and cognitive abilities has been shown in the adult population, but studies on the pediatric population are currently lacking. This study aims at evaluating the effects of a bone-anchored hearing implant (BAHI) on speech perception, speech processing, and memory abilities in children with single side deafness (SSD). We enrolled <i>n</i> = 25 children with SSD and assessed them prior to BAHI implantation, and at 1-month and 3-month follow-ups after BAHI implantation using tests of perception in silence and perception in phonemic confusion, dictation in silence and noise, and working memory and short-term memory function…