Track topics on Twitter Track topics that are important to you
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness. Among hereditary non-syndromic deafness autosomal-dominant inheritance is observed in about 10-20% of the cases. These forms of deafness are usually post-lingual and progressive. To date more than 41 chromosomal localisation and 21 genes associated to non syndromic dominant deafness have been described. It represents an extreme genetic heterogeneity making difficult the studies of these forms of hearing impairment. But, genetic diagnostic testing is crucial in these cases. Indeed, therapeutic research are in the way to prevent the progression of the disorder. The aim of this work is to establish the prevalence of the different genes involved in these forms of deafness.
The protocol consists first in the recruitment of 150 families with non syndromic dominant hearing impairment. The families will be recruited by the clinical investigators. The clinic and radiological characteristics of the hearing impairment will be collected by the clinical investigators. Samples of patients and healthy relatives will be sent to the referral center. A linkage study of the whole genome by SNP studies is in progress in a cohort of large families affected by autosomal dominant deafness. This work will enable us to select the loci that may be frequently implicated in our population and screen these genes in the 150 families included in the protocol.
Observational Model: Case Control, Time Perspective: Cross-Sectional
Hôpital Armand-Trousseau, Service d'ORL pédiatrique et de Chirurgie Maxillo Faciale
Assistance Publique - Hôpitaux de Paris
Published on BioPortfolio: 2014-08-27T03:12:42-0400
This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance...
This is a 12-months’ randomized clinical trial that aims at studying the benefit of bilateral hearing aids in hearing impaired patients suffering from a slight to moderate stage Alzheime...
Hearing impairment is one of the most common disabilities in veterans. The decreased ability to communicate is troubling in itself, but the strong association of hearing loss with functio...
Hearing loss is one of the most common congenital anomalies. Early Intervention at or before 6 months of age allows a child with impaired hearing to develop normal speech and language.Audi...
The purpose of the study is to see if a commercially available hearing assistance device called the PockeTalker has an effect on performance on cognitive (memory and thinking) tests among ...
Hearing impairment, vision impairment, and dual impairment (both hearing and vision impairment), have been independently associated with functional and cognitive decline. In prior studies of dual impa...
Hearing impairment has been suggested to increase the risk of falls. However, most previous studies were conducted in an older population without classification of the fracture regions. This study aim...
The aim of this study was to evaluate ethnic- and sex-specific associations between DM and hearing impairment.
Crying is a multimodal, dynamic behavior and the first way to communicate. Early identification of hearing impairment is critical for prevention of speech and language disorders. The present study aim...
The objective of the present study was to compare the effectiveness of mono- and binaural hearing aids in the rehabilitation of the adult patients of different age presenting with chronic symmetric he...
Professionals skilled at diagnostic testing of hearing, HEARING IMPAIRMENT, and CORRECTION OF HEARING IMPAIRMENT by non-medical or non-surgical means.
Procedures for correcting HEARING DISORDERS.
The teaching or training of those individuals with hearing disability or impairment.
The study of hearing and hearing impairment.
Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.
Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...