By Judy Huch, AuD and Carly Copeland, AuD
Genetic hearing loss can be associated with hidden potentially life threatening diseases if they go undiagnosed. Hearing loss is often the first clue to detecting these serious syndromes. Most babies with these diseases look healthy at birth and have no family members affected with the disease. Four serious autosomal recessive diseases associated with hearing loss are Jervell Lange-Nielson syndrome, Alport syndrome, Usher syndrome, and Pendred syndrome.
Jervell Lange-Nielson syndrome is characterized by sensorineural hearing loss and an abnormal heart rhythm (long Q-T). The abnormal heart rhythm can lead to fainting and sudden death if undiagnosed. Hearing screening and genetic testing is essential to saving the lives of those with Jervell Lange-Nielson. Usher and Alport syndrome are associated with hearing and vision loss. Usher syndrome also affects balance, so the earlier it is diagnosed, the sooner the child can be treated to manage this devastating syndrome. Our own Jane Madell has covered Usher syndrome quite extensively on her blog.
Alport syndrome is important to diagnose early because there can be kidney abnormalities along with vision and hearing loss. Those with Pendred syndrome may have inner ear abnormalities and goiters. The hearing loss may be progressive, sensorineural, or mixed. Early diagnosis of hearing loss and possible associated syndromes is essential for proper treatment.
Each of these syndromes (except for Usher as it is well documented in Jane’s posts) will be highlighted in future posts. But the point of this post is to use this information as a type of educational marketing that can be used to reach out to other medical professionals. Information along these lines can be a powerful tool for hearing follow up (for all ages.)
In my offices we use our Arizona State guidelines for hearing screenings along with information such as this to reach out to physicians in the area. Educating our medical colleagues and showing we are the professionals who are the leaders in the field can be a great tool for referrals.
Carley Copeland, AuD is an audiologist serving Oro Valley and NW Tucson with Oro Valley Audiology. She was an extern at each office site during the 2013-2014 school year. She recieved her AuD through the University of Arizona in 2014. She works part time so she can be with her young son the rest of the week! Carly contributes to the monthly Dr Fax, and this post was modified from her January 2015 article.