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Despite phenomenal advances in genetic treatments and disease modifying therapies for a number of neuromuscular (NM) diseases, there has been little systematic clinical evaluation of bulbar integrity in NM patients or any determination of how these therapies influence bulbar function. The scarcity of studies investigating disease modifying therapy effects on bulbar dysfunction can be attributed, in part, to the limited availability of validated instruments for the structured assessment of swallowing and speech in NM patients. These gaps in assessing bulbar integrity have clinically significant repercussions including the inability to systematically monitor function, facilitate timely rehabilitation intervention, monitor pharmaceutical treatment effects or initiate supplemental or compensatory treatments.
There is a critical need for continuing medical education of health-care providers caring for individuals with NM disease to address the unmet needs in this population. This conference will support the advancement of assessing bulbar function in children and adults by a variety of health professionals with expertise in this area and establish a foundation of evidence-based care to enhance understanding impairment of bulbar function and response to treatment. This effort will help define methods for screening and identification of early bulbar impairment, enhance the ability to define patterns of disease progression, and advance recommended clinical needs assessments and interventions, as well as evaluating response to therapies.
This 1-day conference will be conducted in person with interactive breakout sessions for in-person participants, as well as providing an option for virtual livestreaming of all formal presentations. The conference will include educational lecture series providing an opportunity to highlight the evidence of bulbar dysfunction features in neuromuscular disease, identifying the appropriate screening and evaluation tools, provide updates in research and the translation to clinical care, and discuss therapeutic interventions for bulbar dysfunction. Didactics will be followed by interactive breakout sessions to examine multi-disciplinary and specialty management of bulbar function and empower the clinician using real-world NM cases including ALS, SMA, DM1, DMD, Friedreich’s Ataxia, & Pompe Disease. These sessions will include opportunities for shared discussion that clarify the perspectives of patients, caregivers, multi-disciplinary providers, and key stakeholders.
At the end of this conference, participants will understand the applicable assessments of bulbar physiology and function for all individuals with NM disease. Attendees will recognize opportunities to optimize clinical interventions and outcomes as well as reflect on the patient perspective.
E-mail Contact: melissa.schwartz@stanford.edu