Presenter(s) Name(s) and Email Address(es):

Meghan Moore Burk, [email protected]

Module Description:

This course is designed to advance the pediatric resident’s knowledge and evidence-based use of clinical outcome measures in pediatric physical therapy practice of pediatric neuromuscular disorders: Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), and Charcot-Marie Tooth (CMT).  

Part 1 of the course is an asynchronous learning module on foundational knowledge, including epidemiology, pathophysiology, medical management, and drug treatments of pediatric neuromuscular disorders: SMA, DMD, and CMT. The narrated lecture will discuss PT examination and treatment interventions for patients with pediatric neuromuscular disorders. Outcome measures specific to SMA, DMD, and CMT will be discussed following the domains of WHO ICF model. The lecture will also address equipment and bracing considerations. After watching the narrated lecture, residents will complete a case-based written assignment.

Part 2 of the course is a synchronous session for case-based discussions on SMA, DMD, and CMT.  Finally, residents are asked to complete a Knowledge Translation plan. Residents are encouraged to engage with their program mentors throughout the course experience to enhance their learning and integration of knowledge into clinical practice.

Learning Objectives: 

Upon completion of this module, Learners will:

• Understand the pathophysiology, genetics, and clinical presentations for common pediatric neuromuscular disorders: Spinal Muscular Atrophy (SMA), Duchenne/Becker Muscular Dystrophy (DMD), and Charcot- Marie Tooth (CMT).
• Differentiate between the three pediatric neuromuscular disorders when performing a PT evaluation.
• Understand implications of disease-modifying treatments on clinical presentation of these pediatric neuromuscular disorders.
• Interpret current evidence to choose effective outcome measures to assess current functional status.
• Design appropriate interventions for each disorder based on evaluation findings.
• Discuss and describe disease prognosis and progression in children with pediatric neuromuscular disorders.

Estimated Educational Hours:

1. Asynchronous narrated lecture: 2 hours

2. Resident required readings and assignment: 2 hours

3. Synchronous session: 2 hours

4. Knowledge translation worksheet: 1 hour

Confidentiality Agreement: 

• Please respect intellectual property rules. All content is intended for your use only. 

• All registered participants are required to sign a confidentiality agreement, which requires that they DO NOT distribute course material.  

Asynchronous Content:  

• Participants should view the narrated lecture prior to the virtual meeting if one is scheduled.  

• A handout is included with the slides from the presentation video.  

Assignment and Required Readings:  

• All participants should complete the assignment described here before the virtual meeting if one is scheduled. 

• Review the patient case(s) provided in the Resident Assignment document and answer the corresponding questions. 

• Review associated outcome measures, and trial use in the clinic setting if you encounter a child with a pediatric neuromuscular disorder. Write down any questions/concerns you have during or after the administration that can be discussed in the synchronous session
• Complete the following required readings:
  • Spinal Muscular Atrophy
    • Mercuri et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
    • Finkel et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
  • Duchenne Muscular Dystrophy
    • Birnkrant et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
    • Birnkrant et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
    • Birnkrant et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
  • Charcot-Marie Tooth
    • Burns et al. Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial
    • Mandarakas et al. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
    • Yiu et al. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
• Additional handouts for outcome measures are provided including articles related to reliability/validity, an administration manual when available, and proforma (scoring sheet)
  • SMA Specific:
    • Revised Upper Limb Module (RULM)
    • Hammersmith Functional Motor Scale-Expanded (HFMSE)
    • The Children’s Hospital of Philidelphia- Infant Test of Neuromuscular Disorders (CHOP-Intend)
    • Revised Hammersmith Scale (RHS)
    • Six Minute Walk Test (6MWT)
  • DMD Specific
    • Performance Upper Limb 2.0 (PUL 2.0)
    • North Star Ambulatory Assessment (NSAA)
    • Timed Function Tests (TFTs)
    • Six Minute Walk Test (6MWT)
  • CMT Specific
    • CMT Pediatric Scale (CMTPeds)
    • CMT Infant Scale (CMTInfant)

Virtual Meeting: 

• The platform is Zoom, so be sure to leave yourself some additional set up time if you need to download the free software.  

• Please plan to have your video on during the entire session to facilitate interaction and discussion. 

• The course presenter(s) will start with a brief overview of the asynchronous content, discuss a few important points, and answer any questions that residents have.  

• The course presenter(s) will also facilitate discussion about the resident assignment using individual breakout rooms and/or discussion in the main room. Come prepared to be an active participant in discussions.  

• The virtual meeting will be recorded and posted for participants to view if they are unable to attend the live synchronous session. Please keep in mind that we are unable to record individual breakout room discussions. Only main room discussions will be recorded. Therefore, residents/faculty who do not attend the virtual meeting will not have the opportunity to participate in or hear discussions that occurred in the breakout rooms, or to ask questions. We strongly encourage participants to attend the virtual meeting in real-time to take full advantage of the learning opportunities offered there.  

Knowledge Translation Reflection:  

• After finishing all components of the module, complete a Knowledge Translation Reflection (see worksheet posted with other course materials) and discuss with your residency mentor(s) or program director.  

Please email the presenters if you have any questions about the content or assignments. 

If you have questions about registration or the Consortium, please contact Elena Bradley at [email protected].