PPMD Conference Update: Blog 2: Care Considerations
In this second blog, we focus on Care Considerations for DMD. Alex Johnson, our co-founder, took the following notes at various sessions at PPMD’s annual conference.
We are working with PPMD, Treat-NMD and other patient organisations to create the UK family friendly guide to help the DMD community better understand the new and updated advice on how to care for your child, We hope to share this with you soon.
The family friendly guide will be based on the new guidelines, which were published in January by the Centers for Disease Control (CDC) in The Lancet Neurology and can be found below:
Importance of Physiotherapy
We should all have life time goals for physical therapy. To ensure we;
- Maximize participation in school, work and community
- Maintain flexibility and comfort
- Encourage motor skills and activity
- Assist with mobility
- Promote independence
- Promote self-advocacy
- Decrease caregiver burden
It is important to use PT interventions to mare sure we have flexibility and muscle health, we use the correct assistive technology or adaptive devices and adapt our environments at school and work correctly.
Why DMD muscles become tight?
- Growing bone
- Fibrosis within muscle tissue
- Incorrect standing and gait postures
- Prolonged wheelchair sitting
- Decreased joint movement
Flexibility is important
Benefits of stretching
- Stretching improves the circulation to muscles
- Moves joints through entire range of motion
- Decrease tightness associated with lack of movement
- Decreases pain
Approaches to managing contractures
Conservative, manual stretches. Short duration stretches <30 mins a day.
Stretches should be gentle. It recommended to hold each stretch for 30 secs. Repeat 2-3 times. Not too aggressive.
Splints initially should be worn at night. 6 to 8 hours per night. 6 to 7 nights per week. They can be the solid or articulated versions. It’s important to work with your therapist to ensure comfort.
If ambulatory stretch legs.
If in transition stretch legs and forearms
If non-ambulatory stretch arms and legs
Important families do parent and self-stretches
What we know about exercise
No exercise leads to muscle atrophy
Too much exercise hastens muscle breakdown
Eccentric contractions are more damaging to the muscle cell e.g. walking down stairs.
Younger boys benefit more than older boys from exercise.
Boys with Duchenne are 40% less active than their peers of the same age.
Important to encourage mild to moderate exercise intensity
Balance activity with rest.
Concentric vs eccentric. Concentric exercise is recommended.
Low load/intensity vs high load/intensity.
Incorporate to encourage balance and coordination activities.
Make activities fun and social
Hydrotherapy highly recommended.
Brenda Wong – Impact of care, nutrition, PT and supplements
What we know and don’t know about Duchenne:
Duchenne is a changing target with evolving natural history modified by improved outcomes, new therapeutics - hence a new generation of DMD patients with different and new care needs.
It’s important to have comprehensive coordinated care that includes;
- Steroid therapy. Steroids: still no consensus on what standards of care should be, when to start, dose, regime. However, daily Deflazacort Loss of ambulation is 14 years of age. Prednisolone 10 days on and off, loss of ambulation is 11.9 years of age.
- Cardiac – Prophylactic meds, assistive devices, ICD
- Bone health – meds for osteoporosis. Discuss with doctor oral vs IV bisphosphonates.
- Orthopedics – treatment of scoliosis in older patients, fracture management
- Endocrine – insulin resistance, metabolic syndrome. Nutrition is key. Encourage grains in diet.
- Nutrition and supplements
- PT range of motion and role of stretching very important.
- Neurocognitive care needs. Neurodevelopment problems e.g. intellectual disabilities, neuropsychiatric, mood disorders, emotional and behavioral dysregulation.
Brenda stressed the importance of care coordinators (It’s important to realize this is a different role to the care advisors in the UK). Most sites in the UK don’t have care coordinators who oversee and co-ordinate your care team. Your care should be team based, collaborative care, with good communication.
You need continuity of care over the care cycle.
Important to read and ensure you are getting the new care considerations.
Pat Furlong – Head, shoulder knees and toes.
Head - Importance of keeping tongue in and swallowing.
Shoulders - Shoulders straight. Good posture.
When sat Knees should be together and shouldn’t bow out.
Toes - Keep shoes on and feet on the floor. Make sure seating is the right height so feet don’t dangle. Keep feet at a 90-degree angle.
Elizabeth Vroom - Dental Considerations in Duchenne
Boys with Duchenne have an enlarged tongue and reduced motility. This means pressure decreases.
Enlarged and weaker tongue causes
- Dental deformities (causing problems chewing)
- Problems to move the food through the mouth
- Problems with cleaning
- Problems with speech
- Problems with appearance
Reduced bite force and reduced contacts causes
- Mastication difficulties including less fragmentation of food.
- Poor fragmentation of food in combination with weak pharyngeal clearance may increase pharyngeal post swallow residue
- Which may cause in advanced stages swallowing difficulties like choking and the feeling of sticking food in the throat.
Duchenne boys have wider faces as they have wider dental arches in the mouth. Dental hygiene is worse than any other groups.
Chewing gum can be used to increase motility not strength. Use sugar free gum.
- For children with DMD, dental and prophylactic treatment should begin early.
- The pediatrician who diagnoses a child with DMD should be obliged to inform the parents about the necessity of regular dental checkups.
- Proper diet is important
- Oral hygiene (from 3 years of age oral hygiene agents should include fluoride)
- Fluoride prophylaxis
- Pit and fissure sealants and fluoride
- Regular dental check-ups
- Avoid treatment under full anesthesia
Dental healthcare (older boys)
- Dental hygiene more difficult when hand function decreases and other people (often not trained) have to take over
- Large tongue
- Less ‘natural cleaning’ by tongue and checks
- Think twice before removing wisdom teeth (every patient needs a personal benefit risk)
- Risk of aspiration
- Rinse after every meal (and drink during and after meals)
- Avoid mouth breathing and open mouth (tongue ‘in’)
- Don’t start orthodontic treatments without a thorough understanding of all aspects caused by the disease
- Consider chewing gum
- Teach dental cleaning to care givers
- Tongue cleaning
Constipation in Duchenne is under reported and under treated. Make sure you speak to your Neuromuscular Specialist about any problems.
Cardiac Health in Duchenne
How should I care for my son’s heart?
Must read Care Considerations on the management of the heart (link above).
It’s important from diagnosis to see a cardiologist. Make sure you build a relationship.
Start ace inhibitors prophylactically by the age of 10 this should be done in consultation with your cardiologist.
You should have an Echocardiogram (<6–7 years old) and Cardiovascular MRI (>6–7 years old)
If a child complains of chest pain, obtain troponin marker. Majority of chest pain could be due to injury or anxiety but could be a marker of a bigger problem. Make sure you investigate it.
We can achieve better cardiac outcomes by not working in clinical silos. Important you have a multi-disciplinary team involved in you care.
Leading cause of death is cardiomyopathy.
Cardiac disease is present at birth.
Why is it important to use both Echo and MRI?
Echo has disadvantages of image quality worsening with age so should be not used alone.
Cardiac MRI. Has the advantages of producing, accurate measurements, traditional MRI information (function by ejection fraction and LGE Scar/fibrosis assessment) and newer techniques like t2 Edema/inflammation, myocardial strain for contractility, T1 (Diffuse microscopic scar. Disadvantages, IV placement for scar imaging, may take longer study – improving, have to lay still, not as readily available-changing. In the UK nobody currently gets routine cardiac MRI as part of their care.
Important to have echo and MRI as this will allow you to manage your child’s disease giving you the knowledge to change the outcome of the disease.
Cardiac MRI showed on fibrosis and scar imaging:
- 17% of boys less than 10 years of has scar (youngest 6.5 years old)
- 34% of boys 10-15 years of age has scar
- 59% of boys older 15 years have scar
- 30% of boys with normal heart function have scar
- 84% of boys with abnormal heart function have scar
Work with your cardiologist to look at the use of
Angiotensin converting enzyme inhibitors, like Lisinopril. These block the activity of AC which decreases the production of angiotensin II and relaxes blood vessels, anti-fibrosis.
Also consider Angiotensin receptor blockers, like Lorsartan. They block angiotensin II from it’s receptor, block TGFB relaxes blood vessels and anti-fibrosis, can be used for those intolerant to ace inhibitors.
Aldosternone Receptor Antagonists, like eplerenone. It is a weak diuretic, blocks aldosterone from its receptor and is anti fibrotic. This can be used to prevent and rescue heart problems.
When PPMD share the slides from the cardiac health in Duchenne online, I strongly recommend you review them.
I hope you have found these notes useful.
And I have one final thing to share from the conference:
One morning I attended an early morning mums yoga session.
It was extremely calming. And the focus was on how caregivers need to look after themselves. We must find time to look after our physical and mental health. Unfortunately it is a fact that we have worse physical and mental health than the rest of the general population. We need to take car of ourselves !
And I was reminded of a good analogy on the plane home: you need to put the oxygen mask on yourself first, before putting it on others.