Symposium

Pediatric Rehabilitation

Clinical Practice (assessment, diagnosis, treatment, knowledge translation/EBP, implementation science, program development)

Neurodegenerative Disease (e.g. MS, Parkinson's disease)

A Collaborative Approach to Managing Rare White Matter Disorders: A Closer Look at Leukodystrophies

Tuesday, November 8, 2022

2:15 PM – 3:30 PM

Presenter(s)

Stacy V. Cusack, MSOT/OTR/L

Senior Occupational Therapist
Children's Hospital of Philadelphia
Williamstown, New Jersey, United States

Slides
Francesco Gavazzi, MD, PhD (he/him/his)

Research Scientist
Neurology Department, Children's Hospital of Philadelphia, Philadelphia (PA)
Philadelphia, Pennsylvania, United States
Sarah H. Evans, MD, Professor, Clinical Pediatrics and Physical Medicine and Rehabilitation

Chief, Rehabilitation Medicine
Childrens Hospital of Philadelphia
Philadelphia, Pennsylvania, United States

We will review the key historical elements in the most common leukodystrophies and highlight exam findings that will inform a diagnostic work up and appropriate care of children with white matter disease from a holistic perspective. We will focus on pathophysiology, which dictates the best approach to tone management, selection of appropriate bracing and equipment, along with a discussion about appropriate assessment tools. Additionally, we will focus on the collaborative approach between team members, indispensable to provide the best care to this complex population. We will briefly touch on natural history studies in order to better understand this population and disease progression. Our hope is that by developing an understanding of the complex nature of childhood Leukodystrophies, clinicians can prepare themselves to provide the best care to this unique population.

Learning Objectives:

Describe interdisciplinary role in clinic, along with team to improve diagnosis, management and treatment of patients.
Identify key features in the clinical history and physical examination that indicate the presence of a degenerative vs. static disease.
Name three of the more common leukodystrophies.
Describe the ways in which certain approaches to the management of hypertonia might be contraindicated in a patient with a leukodystrophy.
Describe the use of natural history studies of rare leukodystrophies as tools for the selection of appropriate outcome measures