Delivered by Dr. Margaret Kenna at the International Symposium on Usher Syndrome.

Download the presentation slides here.

Kenna, M.1,2, Lafferty, K.3, Rehm, H.2,3, and Fulton, A1,2

1Boston Children’s Hospital, Boston, MA, USA
2Harvard Medical School, Boston, MA, USA
3Partner’s Healthcare/Personalized Genetic Medicine, Cambridge, MA, USA

Abstract:

To make a diagnosis of Usher Syndrome, you first have to suspect it, and since it presents in early childhood as a non-syndromic form of hearing loss, the level of suspicion must be high enough to prompt testing. However, many parents with new babies with hearing loss are overwhelmed with unfamiliar and complex information, the requirements for language services, the need for hearing aids or cochlear implants, and uncertainly about the future. Diagnostic testing to figure out the cause of the hearing loss, especially if the baby seems otherwise healthy, is an additional emotional and time-consuming burden. Insurance issues, the possibility that other family members may be affected, and heightened uncertainty about the future based on both hearing loss and now vision loss may make the idea of genetic testing difficult.

However, defining a specific cause of hearing loss is very helpful in planning for the child’s future, academically, socially, and medically. This presentation will review how the diagnosis of Usher syndrome is suspected and confirmed, how to connect with Usher Syndrome resources, and how you/your child might connect with research that may apply to you and your family.