1. 1 CMD Standard of Care Turning recommendations into practice Meganne Leach, MSN, APRN, PNP-BC Children’s National Medical Center & the National Institutes of Health

2. 2 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

3. 3 Standard of Care Guidelines Clinicians may have limited experience with CMD Parents are often the experts in care Advocating for your child

4. 4 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

5. 5 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!

6. 6 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

7. 7 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

8. 8 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 EEG’s if indicated, in aDG and LAMA2 – Surveillance Immunizations Screen for nutritional risk at each visit and refer to dietitian if any apply: Cognitive and behavioral issues Regular dental exams 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…

9. 9 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)…

10. 10 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

11. 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

12. 12 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

13. 13 The End (for now)