Notes on EDS and Muscular Dystrophy: Functional Assessment and Intervention (Module 7 Sync)

Overview: EDS and Muscular Dystrophy in pediatric OT practice

• This week focuses on two conditions: muscular dystrophy (MD) and Ehlers-Danlos syndrome (EDS), including how they present in outpatient settings, school environments, and therapy planning.
• In outpatient settings, referrals for pain or other issues may reveal an underlying condition such as EDS when joint hypermobility is present.
• In school settings, these conditions can affect fine motor and gross motor skills and drive referrals to address these areas.
• Muscular dystrophy (MD) is a genetic condition that directly affects muscles.
• Ehlers-Danlos syndrome (EDS) is a genetic condition that affects connective tissues (skin, joints, blood vessels) due to a mutation in the collagen protein gene.
• The discussion emphasizes how concurrent conditions (MD and EDS) involve different primary tissues but can intersect in functional planning for daily activities and participation in school.

Ehlers-Danlos Syndrome (EDS): Key concepts

• Genetics and tissue level impact
  • EDS is a genetic connective tissue disorder caused by a mutation in the collagen gene.
  • Connective tissue involvement leads to joint issues, skin changes, and vascular fragility.
• Core clinical triad (three main points) of EDS
  • Joint hypermobility
  • Skin hyperextensibility
  • Tissue fragility
• Multisystem involvement (paleotropic syndrome)
  • Term used in the presentation to denotethat EDS can affect organ systems that don't seem related at first glance.
  • Affected systems can include skin, joints, and blood vessels; this multisystem effect is a hallmark of how broadly EDS can present.
• Subtype classification of EDS
  • There are currently $13$ subtypes described in the literature.
  • Earlier literature (early 2000s) recognized about $6$ subtypes; ongoing research has refined classifications.
  • The presenter notes the 02/2017 source still cites $13$ subtypes and that newer evidence continues to refine classifications.
  • The point is that classification is evolving, which helps in targeted assessment and treatment but also means clinicians should use functional, not just subtype-specific, information when planning care.
• Sources and evidence
  • The PowerPoint slide set is uploaded in the module 7 sync session page.
  • The presenter references additional sources and notes that recent articles (e.g., 02/2023) continue to emerge due to the condition’s complexity.
• Practical implications in practice
  • Recognize that EDS can appear in various settings (musculoskeletal, skin, vascular) and may require a multi-system approach to care.
  • Clinicians should take a functional, rather than purely etiologic, perspective when assessing and treating; a “zebra vs horse” mindset can help avoid getting lost in rare subtypes while still addressing functional needs.

Muscular Dystrophy (MD): Key concepts

• Definition and primary impact
  • MD is a genetic condition that primarily affects the muscles.
  • The clinical focus is on the muscles themselves and their function (strength, endurance, and movement patterns).
• Typical clinical trajectory
  • Weakness over time
  • Muscle tightness
  • Progressive loss of function, potentially leading to inability to walk or transfer without assistance.
• Comparison to EDS in functional terms
  • MD tends to be more pervasive in the muscular system.
  • EDS involves connective tissue and can cause joint laxity and tissue fragility, which in turn affects movement and stability.
• Prognosis and management emphasis
  • Management is highly individualized.
  • Emphasis on joint protection, activity modification, and functional goals to maximize quality of life.
  • Consideration of chromosomal or other genetic factors is important for understanding variation, but treatment is often guided by functional presentation across systems.

How MD and EDS differ in function and motor control

• Core distinction
  • MD: primary problem is muscle weakness and the consequences for movement and transfers.
  • EDS: primary problem is connective tissue laxity and tissue fragility, which affects joints, skin, and vessels, contributing to instability and injury risk.
• Muscle control and stability (clinical discussion with Cody and Dr. Fairfield)
  • Hypermobility requires greater muscle control to stabilize joints during activities; there can be cycles of mobility and stability.
  • MD tends to be more pervasive and affects the muscles themselves, whereas EDS supports compensatory strategies with musculature to stabilize joints with laxity.
• Functional implications
  • In hypermobility (EDS), clinicians often work on how much muscle recruitment is needed for a given task and how to optimize compensatory strategies for stability.
  • In muscular dystrophy, the focus is on how to maximize function within the limitations of muscle weakness, including joint protection and adaptive strategies.

Treatment considerations, prognosis, and functional approach

• General treatment philosophy for MD
  • Highly individualized plans.
  • Emphasis on teaching strategies, joint protection, and environmental/assistive modifications to maximize participation and quality of life.
  • Functional assessment across multiple systems to guide intervention (muscle, skeletomuscular alignment, sensory considerations).
• Functional assessment framework
  • Look beyond a single disorder label; assess musculature, skeletal alignment, sensory function, and overall participation.
  • Use a functional lens to classify needs and design interventions (instead of trying to perfectly categorize every chromosomal or sub-type detail).
  • Analogy: “if it looks like a zebra, treat like a horse”—identify functional patterns and support them, even if the exact subtype is not fully mapped in research.
• Role of chromosomal disorders in the discussion
  • There are many chromosomal disorders with variable presentation.
  • Clinicians should prioritize functional assessment and goals over exhaustive subtyping when evidence is sparse for a given case.
• Early functional goals and education
  • Provide education about joint protection and energy-conserving strategies.
  • Use compensatory strategies and targeted strengthening to support stability where appropriate.
• Practical considerations in the classroom
  • School referrals may arise for fine motor and gross motor support.
  • Goal areas align with activities of daily living and school participation.

Practical signs and examples observed in the session

• Physical features illustrating EDS in clinical images (described in the session)
  • Skin that stretches easily, with potential stretch marks.
  • Knee hyperextension observed in some patients.
  • Thumb joint laxity allowing greater than typical movement.
  • Palms placed on the floor with knees in full extension or dorsiflexion to approximately $90^ ext{o}$.
  • Elbow hyperextension observed.
• Symptom presentations
  • Patients may present with pain that affects daily activities more than a formal complaint about joint mobility.
  • Pain management and education are central to improving participation.

Splints, orthoses, and related care (module four wear and care handout)

• Nighttime vs daytime wear decisions
  • Chloe’s splint is prescribed to be worn at nighttime only after a trial period.
  • Rationale: the splint is a static orthosis and could impede functional use during daytime activities.
  • Once skin integrity is confirmed, nighttime wear can be extended to daytime use to allow functional hand use during activities.
• Function-focused rationale
  • The goal is to elongate and rest the muscles/joints at night while preserving daytime function for daily tasks.
• Specific hand splint considerations
  • Resting hand splint described as a form of orthosis: used to support rest and positioning without hindering daytime function.
  • The splint is static (non-dynamic), which affects its daytime usability for tasks requiring active finger and hand movement.
• Maintenance and care
  • Splint care includes avoiding heat exposure that could warp or deform materials.
  • Washing temperature guidance: lukewarm water to minimize risk of shape change.

Specific module-related facts and classroom content (Jeopardy-format prompts mentioned in the session)

• Module six (mental health) fact: most commonly diagnosed mental health condition in children and youth, with four common conditions listed (ADHD, anxiety, behavior concerns, depression).
• Module seven (conditions) prompts included in the session:
  • Erb's palsy described as the waiter's tip position.
  • Duchenne muscular dystrophy identified as the most common type of MD.
  • Ataxia described as a fundamental movement disorder related to balance and coordination.
  • Sickle cell disease: average school absenteeism; the class identified as $18$ days.
  • Focal seizures prevalence in children with cerebral palsy and epilepsy identified as $70\%$ (focal seizures).
  • Joint hypermobility, skin hyperextensibility, and tissue fragility as connective tissue disorder triad (EDS).
  • Resting hand splint as a type of orthosis (the name used is close to but not exactly “static orthosis”; the formal term used in the discussion was resting hand splint).
  • Temperature guidance for washing splints: lukewarm water.
• Additional content discussed in the session:
  • The difference between serving as OT students in a team-based presentation: connect one section to the next, providing smooth transitions rather than presenting as separate professionals.
  • The need to hit four main objective categories in presentations (as per rubric) but groups had nine bullets that needed reorganization into four objectives.
  • The importance of addressing patient and family experience during transitions and discharge planning (home health, feeding, lactation support, PTSD considerations for birth-to-home transition).
  • The value of including several primary team members in presentations and acknowledging others without overwhelming the slide content.

Transitions, care planning, and interprofessional considerations

• Transition planning (module seven) should be based on age-appropriate assessments with priorities in: education, employment, and community living.
  • The key term discussed: transition goals (a component within the OT process).
• Case-specific considerations (Martha’s case example and others)
  • Primary team members typically include hospitalist, nurses, OT/PT/Speech as relevant to the setting.
  • Transition planning should consider differences in who is involved in hospital care versus outpatient/home-based care, with family remaining a constant team member.
  • For discharge planning, home health and ongoing services (OT/PT) are often considered, with feeding and bonding considerations (e.g., involvement of lactation consultants when needed).
• Documentation and references
  • Case study citations often come from a book or edited volume; proper citation approach may resemble citing a chapter of an edited book.
  • The presentation rubric suggests four or more team members to be discussed, with the option to acknowledge other members as appropriate while focusing on primary players.

Practical implications and ethical/philosophical considerations

• Ethical/practical implications
  • Respecting tissue fragility and pain reports; ensuring patient safety in activity selection and assistive device use.
  • Balancing functional independence with safety in daily tasks and school activities.
  • Addressing underrepresented areas in health care (e.g., pelvic floor health discussions noted as underserved areas for women).
• Real-world relevance
  • School-based OT must consider how chronic conditions like MD and EDS affect participation in classroom activities, physical education, and social interactions.
  • Multisystem involvement (paleotropic syndrome) underscores the need for collaboration across specialties and care settings.

Notable numerical references (LaTeX format)

• Subtypes of EDS: $13$ subtypes
• Earlier MD subtypes recognition: $6$ subtypes
• Publication/date references: $02/2017$; more recent articles noted as $02/2023$
• Sickle cell absenteeism: $18$ days on average
• Focal seizures in CP with epilepsy: $70\%$
• Dorsiflexion measurement: $90^\circ$ for toe-to-floor or hand-to-floor measures
• Resting hand splint and nighttime-only wear discussions involve schedule and function; exact times are described as nighttime wear after trial period, followed by daytime use when appropriate.
• The warm-water wash guidance: lukewarm water

Connections to prior lectures and foundational principles

• Emphasis on functional assessment over exhaustive disease subtyping aligns with occupational therapy practice frameworks: evaluate the person, tasks, and environment to identify meaningful goals and interventions.
• The zebra vs horse metaphor reflects a foundational OT approach: when exact medical labels are uncertain or highly variable, start with functional patterns and generalizable intervention strategies.
• The discussion links to collaboration across settings (clinic, school, home) and across disciplines (OT, PT, speech, nursing, lactation) as a core principle of pediatric care.

Images and practical examples referenced

• Skin stretch and stretch marks as potential indicators of skin hyperextensibility
• Knee hyperextension examples
• Thumb hypermobility and joint laxity
• Palms flat on floor with knees extended; dorsiflexion to approximately $90^\circ$
• Elbow hyperextension scenarios
• These visual cues support education for families and help in recognizing features consistent with EDS in clinical practice.

Summary of actionable takeaways for practice and study

• Expect EDS to present with a triad (joint hypermobility, skin hyperextensibility, tissue fragility) and possibly multisystem involvement (paleotropic syndrome).
• Recognize that MD and EDS affect different tissues but both impact function; management should emphasize function, safety, and participation rather than only etiologic classification.
• Use functional, person-centered goals when planning interventions, especially given the growing but still evolving subtype classifications.
• In school and home settings, prioritize joint protection, functional strengthening, compensatory strategies, and patient/family education to optimize participation.
• When using orthoses (e.g., resting hand splints), plan for nighttime wear to protect the joint and permit daytime functional use; monitor skin integrity during a trial period; communicate clear guidelines to families.
• For teaching and assessment, include four primary team members in introductions and transitions, while acknowledging others; ensure interprofessional engagement to meet rubric criteria.
• Be mindful of broader health topics discussed in the course (e.g., mental health, positioning, transitions) and how they intersect with physical conditions in pediatric OT practice.