16th ANNUAL EARLY HEARING DETECTION & INTERVENTION MEETING
February 26-28, 2017 • Atlanta, GA
| Branchiootorenal (BOR) Syndrome: The search for appropriate monitoring
Branchiootorenal (BOR) Syndrome: The search for appropriate monitoring
Branchiootorenal (BOR) Syndrome: The search for appropriate monitoring
Track: Audiological Services
Authors: Catherine LeRoy, B.S.; Emily Nightengale, Au.D.;
Affiliations: 1) Children’s Hospital of Colorado, Aurora, Colorado;
Presenter: Catherine LeRoy
Branchiootorenal (BOR) Syndrome is an autosomal dominant genetic mutation that was first categorized in 1975 by Melnick et al. and included the following symptoms: hearing loss, cup-shaped pinnae, preauricular pits, branchial cleft fistulas, and bilateral renal anomalies. According to Chen et al. (1995) hearing loss occurs in 93% of BOR patients, making hearing loss the most common and consistent feature across individuals with BOR Syndrome. However, hearing loss in patients with BOR Syndrome has been documented as ranging from mild to profound in severity; sensorineural, conductive, or mixed in nature; and it can be congenital or late-onset. For the patients that have late-onset hearing loss, there is a persistent question as to when a hearing loss may occur which results in these patients being brought into the audiology clinic frequently for monitoring purposes. In addition to hearing loss and the accompanying audiology appointments, these patients are at a variety of other appointments to address their multitude of medical needs. The purpose of the present study is to complete a comprehensive literature review on the current information regarding BOR Syndrome and hearing loss including type, degree, configuration, and age of onset of hearing loss with the primary goal of determining appropriate follow-up and monitoring procedures for children with BOR in order to help families and professionals better understand expectations and follow-up needs.
Key words: Branchiootorenal Syndrome, BOR, hearing loss, late-onset
Contact Information:
Catherine LeRoy
Catherine.choy@childrenscolorado.org
- To recognize the characteristics of BOR syndrome.
- Understand the likeliness of hearing loss related to BOR syndrome.
- Discuss monitoring and follow-up protocols specific to patients with BOR syndrome.
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Presenters/Authors
Catherine LeRoy
(), Children's Hospital of Colorado LEND, catherine.choy5@gmail.com;
I am a fourth year Au.D. student at Rush University finishing my externship at Children's Hospital of Colorado. I am Colorado-native and have a passion for nearly all activities that take place outside. I found my passion for audiology in a round about way passing first through journalism, special education, and speech pathology. Needless to say, I was have found my home in audiology and am looking forward to spending my entire life solving problems and helping children hear.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exist.
Nonfinancial -
No relevant nonfinancial relationship exist.