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USH2014 Presentations - Dr. Xue Liu, Therapy and Clinical Trials

Delivered by Dr. Xue Liu at the International Symposium on Usher Syndrome.

Download the presentation slides here.

Liu, XZ

Department of Otolaryngology, University of Miami Ear Institute, Miami, FL

Abstract:

Remarkable progress has been made in understanding the pathogenesis of Usher syndrome, which results in the loss of the two most vital human senses and therefore burdens patients with a severe disability. Virtually all members of the deaf community view the visual impairment that accompanies USH as a devastating handicap. Molecular genetic testing with high-throughput sequencing techniques have provided comprehensive genetic testing covering all previously identified USH genes. The earlier intervention is important to maximize the likelihood of development of useful auditory-oral communication skills prior to the onset of the visual impairment. Cochlear implantation is a safe and effective mode of rehabilitation for patients with severe to profound hearing loss. Our study shows that early intervention is critical to developing effective oral-auditory skills prior to visual loss. Benefits of early intervention and diagnosis also should include timely counseling regarding genetic issues, educational and vocation placement. The current knowledge of cochlear implants, implications of in cochlear implants in patients with USH including the auditory performance, improvement of hearing handicap, and the risk of cochlear implantation will be discussed.

Acknowledgements: The work is supported by NIH DC 05575

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