Name: Caitlyn Menolasino
Major: Communication Sciences and Disorders
Advisor: Dr. Donald Goldberg
This study investigated audiologists’ familiarity and experiences with pediatric patients with CHARGE syndrome as well as audiologists’ familiarity with previously published guidelines related to hearing healthcare for syndrome management. Recruitment messages, which included a link to an electronic survey, were posted to Special Interest Groups of the American Speech-Language-Hearing Association, as well as sent directly to institutional members of the American Cochlear Implant Alliance and Children’s Hospitals across the nation. Several conclusions resulted from this study, some of which included the following: audiologists lacked familiarity with the two previously published guidelines investigated in this study; audiologists’ confidence in their hearing care and counseling abilities increased if they were familiar with guidelines for cochlear implantation for CHARGE syndrome; and outcomes of pediatric patients with CHARGE syndrome were reported by participating audiologists to be highly variable. This study demonstrated the need for increased accessibility to health guidelines and information to allow for audiologists, and other healthcare professionals, to have an increased familiarity with “rare” diseases that they are unlikely to routinely encounter. It is of utmost importance that audiologists be familiar with and have access to guidelines for the management of CHARGE syndrome, and other rare diseases that they may encounter, in order to ensure that their pediatric patients receive the necessary clinical treatment and have care provided in the most appropriate and efficient manner.
Keywords: CHARGE syndrome, rare disease, audiology, guidelines, hearing healthcare, syndrome management
Caitlyn will be online to field comments on April 16:
4-6 pm EDT (PST 1pm-3pm, Africa/Europe: late evening)