On-Demand: A Changing Landscape: Evaluation and Management of the Pediatric Neuromuscular Patient

This course will provide clinicians with an overview of pediatric neuromuscular disease, with an emphasis on dystrophinopathies (such as Duchenne muscular dystrophy and Becker muscular dystrophy) and spinal muscular atrophy. A history and introduction to gene replacement therapy and other pharmaceutical treatments will be provided. This will include firsthand data and experiences from the Nationwide Children’s Hospital team from their first-in-human trials of gene therapy for both SMA and DMD that lead to drug approval by the Food and Drug Administration. This course will also provide an update on newborn screening for neuromuscular disorders and implications for the pediatric physical therapist.

Treatment advancement has made significant impacts on the natural course of these conditions, leading to emerging phenotypes. The changes in evidence-based physical therapy practice driven by evolving phenotypes will be described in detail for both evaluation and management of children with these conditions. This will include an overview of outcome measures for evaluation and monitoring of disease progression, recommendations for interventions and goal setting across settings, and initiating use of mobility aids.

In summary, this course will highlight the clinical presentation of these genetically inherited diseases while describing in more depth the important clinical considerations for the pediatric physical therapist in the screening, evaluation, management, and goal setting for patients with neuromuscular disease across practice settings.