Our clinical otogenetics team studies patients and families with hereditary hearing impairment already for more than thirty years, long before the first deafness gene was cloned in 1995. Our aim is to characterize the phenotype of specific genetic types of hearing impairment in order to improve counseling of our patients. We measure the severity and progression of hearing impairment via pure tone audiograms, and speech perception tests. We evaluate a possible association with other clinical symptoms and we look for optimal ways of rehabilitation (f.e. cochlear implantation).
Our studies are not only essential to the identification of novel deafness genes (Molecular Otogenetics) but also to obtain thorough insight in the clinical presentation. Hereditary hearing impairment is genetically extremely heterogeneous, which hampers a fast genetic diagnosis. Proper clinical evaluation of inherited hearing impairment can guide genetic screening and therefore is cost-effective as well. Evaluations of the phenotype are being conducted by cross-sectional as well as longitudinal statistical analyses of pure tone and speech audiometry. From these analyses, audioprofiles are constructed which we call Age-Related Typical Audiograms (ARTA) that depict the progression of hearing impairment over decade steps. Psychophysical tests are applied in order to further distinguish different genetic types of hearing impairment from each other and to enhance our insight into the underlying inner ear defects.
Our main topics of research are:
- Autosomal dominantly inherited hearing loss
- Autosomal recessively inherited hearing loss
- Turner syndrome
- Usher syndrome
- Congenital middle and external ear anomalies
- Cochlear implantation in hereditary hearing loss
Department of Ear, Nose, Throat / Route 377
|Key grants and prizes|
Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am J Hum Genet. 2011 Dec 9;89(6):813-9.