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CMD Standard of CareTurning recommendations into practice
Meganne Leach, MSN, APRN, PNP-BC
Childrens National Medical Center
& the National Institutes of Health
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Standard of Care Guidelines
Consensus Statement on Standard of Care forCongenital 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
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Standard of Care Guidelines
Clinicians may havelimited experience with
CMD
Parents are often theexperts in care
Advocating for your
child
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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
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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 topicsnot mentioned in document
Work in progress!
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Clinic Checklist
Population-specific
Age groups
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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
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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
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
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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 ofSEPN1-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)
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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
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Thank You
All the clinicians who have taught me to lovecaring 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)
