9/30/2017. SMA: Spinal Muscular Atrophy Learning Outcomes: SMA. Prevalence. Review of the diagnosis. Here are the odds
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1 SMA: Spinal Muscular Atrophy Learning Outcomes: 1 in 6,000 to 1 in 10,000 but 100% to CRT Kay Koch, OTR/L, ATP The van Halem Group, A Division of VGM kkotrchoa@yahoo.com The participant will be able to list three symptoms and characteristics of each of the 4 types of Spinal Muscular Atrophy (SMA). The participant will be able to describe the mobility and seating considered for a person with SMA. The participant will be able to describe one wheelchair driving option for a person with SMA. Prevalence SMA Next to Cystic Fibrosis, SMA is the most common autosomal-recessive inherited disorder Type 1 affects 1 in 10,000 live births Carrier 1:45 worldwide #1 genetic cause of infant deaths Review of the diagnosis Here are the odds 2 Carriers = both parents 25% will have a affected child 50% will produce a child who is a carrier 25% will be a SMA non carrier 1
2 Review of the diagnosis Review of the diagnosis Physical Presentation Physical Presentation 2
3 Life Span Type I Type II 3
4 Coping New everything Shock Real or perceived stigma Grief Family /Parent Dynamics Post loss 5 Step Assessment Process Data Gathering Data Gathering Observation Mat Assessment Skin considerations Trial and simulation / Overall goals History Family/ Child goals Transportation Home access Current equipment- if any Observation Mat assessment Current positioning Current equipment likes and dislikes Transfer methodology ROM MMT Support needed to maintain functional seated position Measurements 4
5 Seating and Mobility Challenges Seating and Mobility Challenges Positioning for support and maximum function Customizing seating to accommodate weakness and progression Conservation of energy Home, classroom and other environmental access Growth and changes in positioning needs COMFORT Non- operative management of deformities Integration of other assistive technologies Access to alternate controls for driving powered mobility Provide mobility that can be self-initiated Considerations pertaining to mobility and seating Non orthopedic Considerations Non orthopedic Pulmonary Gastroenterology Orthopedic Hip dislocation Scoliosis Pulmonary Major cause of death for SMA I and SMA II Weak inspiratory and expiratory muscles Secondary infections/ lung diseases Addition of ventilator or tracheostomy Gastroenterology Poor swallowing /chewing secondary to facial weakness Reflux Risk of aspiration Addition of feeding tube Orthopedic Considerations: Scoliosis 60%- 95% affected SMA I and II have larger curves and rapidly progresses C shaped Inventions can be nonoperative or operative Weigh bracing for supported sitting vs limit chest wall expansion Orthopedic Considerations: Hip Dislocation Secondary to muscle weakness Muscular imbalance Pelvic Obliquity 5
6 Seating considerations Skin considerations Support Present history or past history of breakdown Comfort Pressure redistribution Bony prominences Sensation Methods or abilitiy to redistribute pressures Acceptability Function Maintenance Seating options Seating options Off the shelf Positioning and Skin Protection Off the shelf OR Custom Molded Systems Something tangible to trial / educate family May be easier to modify after delivery Can be adjusted without remolding for growth or change May not provide the ultimate contact / support Seating options- Custom Molding Trials / Mobility Options Good to accommodate moderate to severe deformities or for fixed deformities Provides maximal contact and support for trunk and or lower extremity positioning May be labor intensive Risk of poor outcome- support, comfort or acceptance Most SMA I and II children cannot indepently move and explore their environment Without this exploration can be at risk for developmental delay Powered mobility provides an intervention Studies have shown children with SMA as young as months are capable of using powered mobility* *March 2003 issue of Physical Therapy, Journal of the American Physical Therapy Association, includes an article called Use of Power Mobility for a Young Child with Spinal Muscular Atrophy. 6
7 Power wheelchair drive options- Proportional Mini proportional joysticks Potentiometer sensitivity setting Touch screen technology Advanced programming/software Power wheelchair drive options Non- proportional Head array Fiber optic /Proximity sensors Other switches Overall Mobility Goals Other Goals Increase independence/ positive conscious experiences Increase access to environment/peers Increase functional mobility Decrease fatigue Educate the parents Encourage autonomy Work to diminish learned helplessness Safety, but less protective Skills of the CRTS/RRTS Patience, patience, patience Empathy Flexibility Super hero knowledge of options and technologies Magic Wheelchairs magicwheelchair.org 7
8 5 years ago There were no approved therapies to treat the underlying cause of SMA September 2016 In partnership with Ionis Pharmaceuticals, Biogen submitted a New Drug Application for Spinraza December 2016 Spinraza is granted FDA approval to treat kids and adults with SMA Thank You! Additional resources/references: fsma.org Use of Power Mobility for a Young Child with Spinal Muscular Atrophy. Authors Maria A. Jones, Irene R. McEwen and Laura Hansen ptjournal.apta.org/content/83/3/253 Slideshart.net/shadymahmoud4spinalmuscleaptrophy "Families of Spinal Muscular Atrophy - What Causes Spinal Muscular Atrophy?" Families of Spinal Muscular Atrophy - What Causes Spinal Muscular Atrophy? N.p., n.d. Web. 17 Dec < "Spinal Muscular Atrophy: MedlinePlus." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 17 Dec < 8
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