Standards of Care post-diagnosis Action Duchenne Conference 2015 Michela Guglieri JWMDRC Newcastle...
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Transcript of Standards of Care post-diagnosis Action Duchenne Conference 2015 Michela Guglieri JWMDRC Newcastle...
Standards of Care post-diagnosis
Action Duchenne Conference 2015
Michela GuglieriJWMDRC Newcastle upon Tyne
Standards of Care for DMD
Publication date: Lancet Neurology January and February 2010NICE accreditation of guideline generation September 2011
Updating process under way
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Key implications:Stage specific care
Standards of Care for DMD
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Standards of Care for DMD
http://www.treat-nmd.eu/dmd/care/family-guide/
TREAT-NMD website
When to suspect DMD
MU
C
S
LE
S
otor milestone delay
nusual gait
peech delay
K
eading to
arly diagnosis
equencing
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Diagnosis
DMD can NOT be diagnosed using CK test only
The diagnosis needs to be confirmed using genetic testing
Why is it important to have a genetic diagnosis?It help making plans for the boy’s care
It allows genetic counselling and carrier testing
It prepares for possible participation in clinical trials (mutation-specific)
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Getting the right information on DMD
Diagnosis of DMD
Ask your clinician any question you have
Contact with a support group or advocacy organization can be of particular help (www.treat-nmd.eu/ dmdpatientorganisations)
Websites
http://www.actionduchenne.org
http://www.treat-nmd.eu/
http://www.musculardystrophyuk.org/
http://www.parentprojectmd.org/
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Diagnosis of DMD
http://www.musculardystrophyuk.org/
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Specialised Neuromuscular centre
Critical role in care co-ordination and timely introduction to relevant specialists
Neuromuscular centre
Genetic counsellor
Physician (paediatric neurologist, geneticist)
Physiotherapist
Cardiologist
Respiratory physician
Endocrinologist
Orthopetic surgeon
DieticianAction Duchenne Conference 2015
Genetic counsellor
Neuromuscular centre
Family planning
Carrier testing
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6 monthly follow up appointments
Monitoring any abnormality or change which might require interventions
Neuromuscular centre
Muscle strength and function
Time testing
Range of joint mobility
Activities of daily living
Bone health
Family well being
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Muscle strength and function
To understand how the condition is changing
To identify the best time to commence treatment
To monitor the effect of treatment
To advise on changes in the treatment
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The North Star Ambulatory Scale
Muscle strength and function
Activity 2 1 0CommentsScore
1. StandStands upright, still and symmetrically, without compensation (with heels flat and legs in neutral) for minimum count of 3 seconds
Stands still but with some degree of compensation (e.g. on toes or with legs abducted or with bottom stuck out) for minimum count of 3 seconds
Cannot stand still or independently, needs support (even minimal)
2. Walk Walks with heel-toe or flat-footed gait patternPersistent or habitual toe walker, unable to heel-toe consistently
Loss of independent ambulation – may use KAFOs or walk short distances with assistance
3. Stand up from chair
Keeping arms folded. Starting position 90º hips and knees, feet on floor/supported on a box step.
With help from thighs / push on chair / prone turn or alters starting position by widening base.
Unable
4. Stand on one leg - right
Able to stand upright in a relaxed manner (no fixation) for count of 3 seconds
Stands but either momentarily or with trunk side-flexion or needs fixation e.g. by thighs adducted or other trick
Unable
5. Stand on one leg - left
Able to stand upright in a relaxed manner (no fixation) for count of 3 seconds
Stands but either momentarily or with trunk side-flexion or needs fixation e.g. by thighs adducted or other trick
Unable
6. Climb box step - right
Faces step – no support neededGoes up sideways / rotates trunk / circumducts hip or needs support
Unable
7. Climb box step - left
Faces step – no support neededGoes up sideways / rotates trunk / circumducts hip or needs support
Unable
8. Descend box step -right
Faces forward, steps down controlling weight bearing leg. No support needed
Sideways, skips down or needs support or uses method that avoids flexing supporting knee - one on the box step
Unable
9. Descend box step -left
Faces forward, steps down controlling weight bearing leg. No support needed
Sideways, skips down or needs support or uses method that avoids flexing supporting knee - one on the box step
Unable
10. Gets to sitting
Starts in supine – may use one hand / arm to push up Uses two arms / pulls on legs or turns towards floor. Unable
11. Rise from floor
No evidence of Gower’s manoeuvre.Exhibits at least one of the components described on page63 – in particular rolls towards floor, and/or use hand(s) on legs
(a) NEEDS external support of object e.g. chair OR (b) Unable
Timed
12. Lifts headIn supine, head must be lifted in mid-line. Chin moves towards chest
Head is lifted but through side flexion or with no neck flexion (protracts)
Unable
13. Stands on heels
Both feet at the same time, clearly standing on heels only (acceptable to move a few steps to keep balance) for count of 3
Only raises forefeet or only manages to dorsiflex one foot.
Unable
14. JumpBoth feet at the same time, clear the ground simultaneously
One foot after the other (skip) or does not fully clear both feet at the same time.
Unable
15. Hop right leg
Clears forefoot and heel off floor Able to bend knee and raise heel, no floor clearance Unable
16. Hop left leg
Clears forefoot and heel off floor Able to bend knee and raise heel, no floor clearance Unable
17. Run (10m)
Both feet off the ground (no double stance phase during running)
‘Duchenne jog’. Walk Timed
TOTAL= /34
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Timed functional tests
Muscle strength and function
Time to get up from the floor
Time to run 10 meters
Time to climb and descend 4 steps
Normal motor development
Muscle strength and function
Age Gross Motor milestones
2 years RunningWalking up and down stairs
3 years Climbing steps with alteranting feetBroad jump
4 years Hoping on one footGoing down steps with alternating feetBalancing on each foot for 3-6 seconds
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Corticosteroids
Currently, steroids are the only drug available that can improve muscle strength in DMD
Equipoises
When should Corticosteroids be started in DMD?
Which corticosteroids and which regime?
Henriette Van Ruiten: Steroids: current advances (Friday, 6th Nov, 11.30-12.30)
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Corticosteroids
When to start?
The plateau phase
Age 4-5 years
Early starter benefit more
Early treatment (< 4 years) might be associated with better long term outcomes
Balance with side effects
2 4 6 yrs
Ricotti et al, 2014
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Corticosteroids
FOR DMD studyFind the Optimum Corticosteroid Regime for DMD
Randomized, double blind, multi-centre international study
Aim to compared the three more commonly prescribed corticosteroid regimes in DMD
Prednisolone 0.75 mg/kg daily
Deflazacort 0.9 mg/kg daily
Prednsilone 0.75 mg/kg 10 days on and 10 days off
Benefits and side effects
The study will inform clinician and families about which regime is associated with the higher benefits and better side effect profile
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Corticosteroids
225 boys 4-7 years old, steroid naive
www.for-dmd.org @FOR_DMD
Cambridge
Leeds
London
Birmingham
Liverpool
Newcastle
Manchester
GlasgowDr Iain Horrocks, Glasgow
Prof Volker Straub, Newcastle
Dr Anne-Marie Childs, Leeds
Dr Stefan Spinty, Liverpool
Dr Imelda Hughes, Manchester
Dr Helen Roper, Birmingham
Dr Adnan Manzur, London
Dr Gautam Ambegaonkar
Corticosteroids
What to start?
Prednisolone 0.75 mg/kg daily Deflazacort 0.9 mg/kg daily Prednisolone 0.75 mg/kg 10 days on/10 days off
Alternate day regime has been shown to be less effective than daily regimes
Doses < 0.3 mg/kg/day are not effective
Inclusion criteria for clinical trials are becoming strict on corticosteroid regimes
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Corticosteroids
Blood tests (haematology, biochemistry, including glucose)
IgG varicellla Zoster Cardiac check (ECG and Echocardiogram) Bone density scan (DEXA) Eye check (to exclude cataracts)
Discussion about corticosteroids should be done soon after the diagnosis
Pre-steroid assessments
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Corticosteroids
Follow up: 3 and 6 months after starting treatment and every 6 months thereafter
Benefits (muscle strength and function)
Side effects (weight, height, urine dipstick, blood pressure, behavior, bone health) Urine dipstick and blood pressure: every 2-3 weeks for the first 3
months
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Physiotherapy
Specialised evaluation every 4-6 months
Contracture prevention
Appropriate exercise
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Joint contractures are caused by reduced active movements (muscle weakness) and fibrotic changes in muscle tissue
Prevention of joint contractures is important and should be started soon after the diagnosis
Avoid development of reduced joint movement
Better tolerated
Range of joint mobility
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Contracture prevention
At early stages, stretching should be limited to the ankles but should be done regularly
Stretching should be done a minimum of 4–6 days per week
At home and/or school
Assessment in clinic
Focus on specific joints depending on age
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Exercise
Regular, exercise is recommended
Especially in young boys
High-resistance strength training and eccentric exercise (e.g. Trapolining) are inappropriate
Swimming-pool exercises and recreation-based exercises in the community.
Myoglobinuria can be a indicator of overexertion
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Bone Health
Vitamin D supplementations
Vitamin D3 800-1000 IU/L
Any child < 5 years
All boys on steroids
In case of Vitamin D insuffiency/deficiency
Boys with DMD have a reduced bone density even before staeroid treatment
No specific interventions required at early stages
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Referrals after diagnosis
Respiratory physician
Force Vital Capacity, Peak cough flow
Pneumococcal vaccination
Annual Flu jab
Cardiologist
ECG and Echo
At diagnosis, every 2 years until the age of 10, annually thereafter
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Neurodevelopmental and psychosocial issues
Possible co-existence of Learning disability Speech and language problems ADD/ ADHD, Autism spectrum disorder, OCD
Need for assessment and management
Individualised educational plan
Active attention to social isolation, adjustment, coping
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Being ready for clinical trials
Any therapeutic approach is likely to be most successful in early stages of the condition when the muscles are less damaged and therefore in young children
Receiving standards of care
Being on the patient registry
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DMD Registry
Database for all patients with DMD (BMD and female carriers)
Genetic and Medical information
Identification of subjects suitable for clinical trials
Geographically locate subjects with specific characteristic (site selection)
Keep patients and families informed about research, clinical trials and outcomes
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32Lancet Neurology 2010
Physiotherapyand assistive technology
Cardiac assessment and treatment
Steroid treatment
Pulmonary support
Diagnosis
Support and co-ordination of care
Bone Health
Psychosocial/educational issues
Emergencies
Taking step by step
DMD is a condition that changes with time
Intereventions needs to be adjusted based on the «stage» of the condition and individual needs
Essentials
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Questions?
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