CMD Standard of Care

Turning recommendations into practice

Meganne Leach, MSN, APRN, PNP-BC

Childrens National Medical Center & the National Institutes of Health

Standard of Care Guidelines

Consensus Statement on Standard of Care for Congenital Muscular Dystrophy
Wang C., et al. (2010) Consensus Statement on Standard of Care for Congenital Muscular Dystrophies. J Child Neurology, 25(12):1559-1581.

Very thorough document

Some specific recommendations

Not necessarily followed in clinical practice

Rare diseases Lack of accessibility to resources

Standard of Care Guidelines

Clinicians may have limited experience with CMD Parents are often the experts in care Advocating for your child

Standard of Care Guidelines

Increase access to standard of care Clinic checklist
Additional recommendations provided by Carsten Bonnemann, Donna DiVito, Tina Duong, Reghan Foley, Hank Mayer, Chris Spurney, and Anne Rutkowski.

Goal for 2 checklists Broad recommendations Ideal clinic Almost ready. Keep an eye out for them on CureCMD.org

Clinic Checklist
Recommendations for care Easy to reference Some specific recommendations
Decrease the discrepancy in the quality of care Focus on health promotion, preventative care When to refer to specialist Not a substitution for good clinical judgment

Suggestions for other topics not mentioned in document Work in progress!

Clinic Checklist
Population-specific
Age groups <6 years old 6-15 years old 16-25 years old: transition to adulthood

Subspecialty
Neuromuscular; Pulmonary; Cardiac; GI, speech/swallow, nutrition; Rehabilitation; Orthopedics; Bone Health; Psychosocial

Special considerations for disease-specific concerns or situation-specific concerns

Subspecialty recommendations
Frequency of evaluations
Minimum frequency, more often if concerns

Areas to specifically monitor

Some guidelines as to when to refer No substitute for experience and expertise

Paucity of evidence-based research

Goal for future research

Congenital Muscle Disease, Age 0-6 years

Neuromuscular management Diagnosis Routine evaluations
Frequency Measurements at every visit Neurologic management
Developmental milestones Seizures- monitor for seizures with prolonged EEGs if indicated, in aDG and LAMA2 Immunizations Screen for nutritional risk at each visit and refer to dietitian if any apply: Cognitive and behavioral issues Regular dental exams

Surveillance

Special considerations
Malignant-hyperthermia

Hospitalizations
Common reasons for hospitalizations at this age: failure to thrive, respiratory failure, respiratory infections, and seizures
If a diagnosis of aDG or L-CMD

Congenital Muscle Disease, Age 0-6 years

Pulmonary management Routine evaluations, with the focus on prevention Overnight Sleep Study (Polysomnography)
Indications, symptoms of nocturnal hypoventilation: If a pediatric sleep laboratory is not accessible

Assisted Airway Clearance indications & modalities Noninvasive ventilation indications Special considerations
In patients with rigid spine, axial weakness and/or diagnoses of SEPN1-related myopathy, COL6 myopathies and lamin A/C...

Sedated procedures Acute illness Cardiac management Routine evaluation with electrocardiogram and echocardiogram Special Considerations
If mutations in LAMA2, L-CMD or aDG (FKTN, FKRP)

Congenital Muscle Disease, Age 0-6 years

GI, speech/swallowing, nutrition management Routine monitoring Clinical swallowing examination indicators (modified barium swallow study by speech therapist) Rehabilitation management Routine evaluations Goals of therapies Methods to encourage independence in mobility Orthopedic management Routine evaluations Spine and contracture monitoring Bone health Routine monitoring Dietary Reference Intake (DRI) for age of Calcium and Vitamin D intake Psychosocial management Early intervention/school-based support Preparation for IEP: rights and realistic goals Patient/family adjustment Support programs: state resources for DME and respite, online support groups Insurance

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Clinic Checklist
Work in progress
As science evolves, clinical care should evolve

Basic recommendations
Not patient specific

Build your team

Family is key in the multidisciplinary team

Thank You
All the clinicians who have taught me to love caring for patients with CMD The specialists who developed the initial guidelines (Wang, et al) Anne Rutkowski, MD & Carsten Bonnemann, MD The specialists who helped me fine-tune these recommendations The families of children with CMD

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The End
(for now)

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