“Newly Diagnosed Workshop: SMA Type II and III” 2015 Annual ...
Transcript of “Newly Diagnosed Workshop: SMA Type II and III” 2015 Annual ...
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“Newly Diagnosed Workshop: SMA Type II and III”
2015 Annual Cure SMA
Conference Westin Hotel – Kansas City, MO
June 18-21, 2015
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Type II/III – Optimal Care for SMA
• Richard Kravitz, MD
• Richard Shell, MD
• Erin Seffrood, MS, RD, CSP, CD
• Brian Snyder, MD, PhD
• Kristin Krosschell, PT, DPT, MA, PCS
• Susan Apkon, MD
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Respiratory Considerations
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PULMONARY SPEAKERS
Richard M. Kravitz, MD
Duke University Medical Center
Division of Pediatric Pulmonary and Sleep Medicine
E-mail: [email protected]
Phone: 919-684-3364
Richard M. Shell, MD – Division of Pediatric Pulmonary Medicine – Nationwide Children’s Hospital – The Ohio State University – E-mail: [email protected] – Phone: 614-722-4766
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Respiratory Care Workshops
• Saturday 9:00 – 10:30 AM (Roanoke)
– Breathing Basics & Care Choices for SMA Type 1
• Saturday 10:45 AM - 12:15 PM (Mission)
– Breathing Basics & Care Choices for SMA Types 2 and 3
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SMA Breathing Basics
• SMA type II/Sitters
– Weak muscles between the ribs
– Chest wall: very soft and flexible during the first
year of life
– Diaphragm: primary muscle used to breath
• SMA type III/Walkers
– Obstructive apnea
– Respiratory muscle weakness in adolescence
and adulthood
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Results of Respiratory Muscle
Weakness in SMA
SMA type II
• Chest wall and lung underdevelopment
• Difficulty coughing (weakened cough)
– Trouble clearing secretions
– Oxygen desaturations
– Frequent pneumonias
• Small shallow breaths during sleep
– Nocturnal hypoventilation
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Results of Respiratory Muscle
Weakness in SMA
SMA type III
• Obstructive apnea
• Breathing muscle weakness in adolescence and adulthood
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TREATMENT OPTIONS ARE AVAILABLE
TO HELP MY CHILD
• To treat the diminished cough, techniques are available to:
augment the cough
shake the mucus loose
suction out the mucus
monitor oxygen saturations
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Secretion Mobilization Techniques
• Manual Chest Physiotherapy
or Mechanical Percussion
• Vest Therapy
• IPV
• Cough Assist
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TREATMENT OPTIONS ARE AVAILABLE
TO HELP MY CHILD
• To treat the diminished breathing while asleep, techniques are
available to:
assist with ventilation
monitor oxygen saturations
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EQUIPMENT RECOMMENDED
FOR THE HOME
• Mechanical in-exsufflator (The Cough Assist)
• Ambu bag
• Pulse oximeter
• Chest PT cups (or the Vest)
• Suctioning equipment
• Nebulizer (if needed)
• BiPAP or volume ventilator (if needed)
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Summary
• Children with SMA type II are at risk for poor cough and hypoventilation.
• Children with SMA type III are at risk for obstructed breathing during sleep.
• Not all interventions fit every child. Every child is different.
• Variety of equipment
• You will make the best decisions for your child.
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Issues to Consider With Your Physician
• Discuss with your doctors what you want for your child
• What equipment should you have now?
• May need a sleep study to assess the need for more support.
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FREQUENTLY ASKED QUESTIONS
1. Should my child have a lung specialist?
2. What respiratory equipment should we have in the home?
3. What respiratory symptoms suggest problems might be developing?
4. Do all “colds” need an antibiotic?
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More FAQs
5. What can I do to prevent respiratory problems?
6. Can my child eat, or are they at risk for aspiration?
7. Will my child need nighttime breathing support, and if so,
how will I know?
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Nutritional Considerations
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Contact Information
Erin Seffrood MS,RD,CSP,CD
American Family Children’s Hospital
E-mail: [email protected]
Phone: 608-263-6420
Stacey Tarrant, RD, LDN
Boston Children’s Hospital
E-mail: [email protected]
Phone: 617-355-7035
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Nutrition Workshops
• Saturday, 9:00 – 10:30 AM (Century Ballroom A)
– Getting the Most Out of What You Eat! Nutrition for
Oral Feeders
• Saturday, 1:30 – 3:00 PM (Roanoke)
– Tube Feeding and SMA: Recommendations and
Practices
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Why is Nutrition Important?
• It may help to improve and/or optimize:
– growth
– motor function
– breathing
– illness prevention/recovery/duration
– quality of life
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• To make sure the diet meets all nutrient needs and growth is appropriate, it is important to see a health care team that specializes in SMA care at diagnosis and every 6-12 months thereafter.
• Evaluate height, weight, growth percentiles, dietary/supplement intake, GI function, and lab values.
Nutrition Evaluation
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Nutrition Evaluation
• Assure adequate:
– protein to prevent muscle breakdown
– fat to prevent essential fatty acid deficiency
– vitamins and minerals to prevent deficiencies
– fluid to prevent dehydration
• *Although the focus is on preventing deficiencies, we also want to prevent excess intake/toxicities
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Nutrient Needs
• Basic elements of good nutrition:
– Calories (energy in food) 9-11 calories/cm
• Protein (1-2 g/kg) (10-15% of calories)
• Fat (25-30% of calories)
• Carbohydrate (55-60% of calories)
– Vitamins/Minerals (Dietary Reference Intakes)
• http://fnic.nal.usda.gov/dietary-guidance/dietary-reference-
intakes/dri-tables
– Fluid (100 mL/kg for infants/young kids)
– Note: 1 lb = 2.2 kg, 1 inch = 2.54 cm
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Common Nutrition Concerns
• Growth – over and under nutrition:
– gaining too much weight can make it harder to move
– gaining too little weight can make illness more likely and recovery more
difficult
– we want to make sure your child grows appropriately
• Chewing/Swallowing
– choking, coughing, wheezing
– trouble with meats, peanut butter, raw/hard fruits/veggies
– pocket food in cheeks
• Meal fatigue/length of meals
– meals taking more than 30-45 minutes
– tired after meals
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• Omission of certain food/food groups – personal preferences/picky eaters – special diet or allergies – trouble chewing
• Fasting
– Limit fasting to avoid low levels of blood glucose and amino acids that turn on muscle breakdown
– No longer than 8-10 hours when ill; may go longer when well
• Drug-Nutrient Considerations – valproic acid, steroids, antibiotics, acid blockers, vitamins/minerals, herbal
supplements
• GI function/constipation – can worsen reflux – may lead to early satiety and poor weight gain
Common Nutrition Concerns
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• Many people with SMA Type II and III do well eating orally and eat regular food.
• However, for some people with type II and III, tube feedings may be needed to help them meet their nutrition needs.
• Different formulas can be used successfully.
– Standard
– Partially hydrolyzed
– Amino acid based
• Is the amino acid diet beneficial for someone with SMA type II?
Special Diets
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• Eliminates all meat, dairy, and soy foods.
• Can be taken orally or via a feeding tube.
• Combines amino acid formula with juice, water, pureed fruits,
pureed vegetables, oils, and vitamin and mineral supplements.
• If taken orally your child will probably not like the taste – amino
acids have a very “metallic” taste.
Amino Acid Based Diet
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• No two are exactly the same.
• Some people eat anything orally during the day and get
formula overnight through a feeding tube.
• Some people eat a vegan diet during the day and get formula
overnight through a feeding tube.
• Some people drink the formula throughout the day and eat a
vegan diet.
Amino Acid Based Diet in SMA
Type II
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– Pros: • Some patients and caregivers feel it improves health and strength.
– Cons: • May be unnecessarily restrictive by eliminating favorite foods
• May cause oral aversion (taste of formula is unpleasant), weight loss
• May result in nutrient deficiencies if not monitored closely.
• Expensive if not covered by insurance.
• There is no evidence/research for this diet in SMA.
Amino Acid Diet in SMA Type II
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Frequently Asked Questions
• Is my child at an increased risk for bone fractures?
– Yes – inadequate calcium and vitamin D, lack of weight
bearing activity, medications.
• Do all children with SMA Type II/III need feeding
tubes?
– No – depends on weight, length of meals,
chewing/swallowing problems.
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Frequently Asked Questions
• What nutritional labs should be done/when?
– Annually:
• Liver function
• Complete blood count
• Vitamin D
• Essential fatty acid profile – for amino acid diet
• Carnitine
• Complete amino acid profile
• Pre-albumin
• Iron (serum iron, ferritin, TIBC, saturation)
• Minerals (magnesium, sodium, potassium, phosphorus)
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Frequently Asked Questions
• What can I do about constipation? – Manage with diet and/or medications
• Increase fluid and fiber
• Try juices like pear, prune, white grape
• Use miralax or other laxatives
• How often should children with SMA eat? – Every 3-4 hours during the day
– Whether to feed overnight depends on the strength of your child
– Offer a snack before bed if eating orally
• Are there special growth charts for children with SMA? – No – important to follow your own curve
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Frequently Asked Questions
• Should a child with SMA Type II be on a special diet?
– Personal choice
– If you don’t feel like what you are doing is working, speak
up
• What supplements are recommended?
– Depends on diet and lab values
– Vitamin C, vitamin D, multivitamin, calcium, iron, carnitine
are all common supplements
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Rehabilitation and
Orthopedic Management
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Musculoskeletal/Rehab Speakers Brian Snyder, MD, PhD
Department of Orthopedics
Children’s Hospital of Boston
Email: [email protected]
Kristin Krosschell, PT, DPT, PCS
Northwestern University
Department of Physical Therapy and Human Movement Sciences
Email: [email protected]
Susan Apkon, MD
Department of Rehabilitation Medicine
Seattle Children’s Hospital
Email: [email protected]
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Weekend Musculoskeletal/Rehab Sessions
• Orthopedic Management:
– Saturday, 9:00 – 10:30 AM (Century Ballroom B)
• Standing, Walking, and Mobility: Decision
Making and Options:
– Friday, 2:00 – 3:30 PM (Century Ballroom A)
• The Role of PT in Your Child’s Life:
– Saturday, 1:30 - 3:00 PM (Liberty)
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Musculoskeletal and
Rehabilitation Team
• Who’s on your team?
• How do you assemble your team?
• Do you need to have everyone on my team right away?
• What’s your role on the team?
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Musculoskeletal and Rehab Team Members
• Orthopedic doctor: bones and muscles
• Rehabilitation doctor: oversees therapy,
equipment, braces
• Physical therapist (PT): strength, walking,
sitting, posture, balance, play
• Occupational therapist (OT): adaptive aids,
fine motor/hand skills, play
• Speech therapy (ST): language, jaw issues
• Orthotist: makes braces
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Goals of Rehabilitation
• Focus on function
• Support muscle and bone health
• Promote mobility and independence
• Facilitate participation in day to day activities
• Improve strength
• Manage scoliosis and contractures
• Enhance learning opportunities
• Ease care giving
• Promote health & wellness
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Rehabilitation Interventions
• Equipment
• Orthotics
• Therapy
• Physical
• Occupational
• Speech
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Goals: Equipment
• Maximize function
• Initiate interventions at developmentally
appropriate stages
• Insure child meets cognitive and social
potential despite physical limitations
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Goals: Wheelchairs
• Independent mobility
– Allows child to explore
• Decrease energy expenditure for
ambulatory child
• Optimize positioning
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Goals: standers
• “View” the world from an
upright position
• Maintain range of motion at
hips, knees, ankles
• May help…..
– Constipation
– Bone density
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Goal: orthoses
• AFO’s (foot)
– Support for standing and walking
– Maintain range of motion
• TLSO (trunk)
– Decrease work in sitting
– Improve hand function
• Other
– Long leg braces
– Hand and wrist
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Therapy
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Balance between play and therapeutic activities
Interventions should:
SUPPORT function
MAINTAIN abilities
AUGMENT play and mobility
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Enhancing Development
• We’ll help you with:
– Positioning during daily routines and
activities
– Adapting toys for play
– Expanding mobility options
– Using equipment effectively
– Monitoring posture and alignment and the
need for braces, surgery, seating, etc.
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The Critical Role of the Family
• Parents and families have the primary role in
their child’s care.
• You know your child best-you’re a professional
as a parent – the expert of your child.
• We know about bones, muscles, movement,
and development.
• All your medical team members should
collaborate with YOU to foster optimal care
leading to the best outcome for your child.
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Various things you might see and wonder about over the weekend
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Is Your Child Entitled to Services?
All children ages birth to 21 eligible for: – Early intervention or
– Special education & related services
are entitled to Pediatric PT, OT or ST through
IDEA – Federal Legislation: Public Law 105-17
– The Individuals with Disabilities Education Act
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Additional Federal Legislation
• The Rehabilitation Act, Section 504
– Requires provision of reasonable
accommodations, including PT, for
persons with disabilities
• The Americans with Disabilities Act
– Protects rights of all individuals with
disabilities
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It’s all about FUN and FAMILY!!
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How do I navigate the maze of
musculoskeletal team?
• What am I going to hear about this weekend?
• What am I going to see?
• Does my child need a brace?
• Does my child need therapy?
• Will my child get scoliosis?
• How do I decide what I need to do and when?
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Frequently asked questions
1. Should my child wear braces on their legs (orthotics)?
– Why
– When
– How often
– How do I know if they are still fitting?
2. How do I know how to pick the right piece of equipment
for my child?
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Brian Snyder MD/PhD
Boston Children’s Hospital
Orthopedics
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Common musculoskeletal issues in children with SMA
• Contractures
• Fragile Bones
– Pathologic fractures
• Hip instability
– Subluxation or dislocation
• Scoliosis
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Contractures
• Loss of joint motion due to structural changes in muscles, ligaments,
and tendons
• Contractures can occur at any joint
• Caused by weakness, decreased range of motion and prolonged
positioning of extremity
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Prevention of contractures
• Range of motion
• Splints and orthotics
• Equipment that help positioning
• Focus on all joints - emphasize joints that are tight – Incorporate stretching/passive
ROM into daily routine
• Diaper changes
• Bath time
• Before bed
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Low bone density = high fracture risk
• More common in children who don’t walk
• Weak bones caused by decreased bone tissue mineral density and abnormally thin bone geometry
– induced by lack of weight bearing
• Fractures occur with minimal trauma
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Treatment of reduced bone density (osteopenia)
• Passive weight bearing
– Standing frame (>1.5hr/day x 5 day)
– may improve bone density
• Maximize calcium and vitamin D
supplementation
– 2000 IU vitD3, 1500mg Ca divided over 3
meals
• If >2 non-traumatic fractures
– Bisphosphonates: Alendronate (oral),
Pamidronate (IV)
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Hip • Instability
• Dysplasia
• Dislocation
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Who is at risk for hip instability
• Risk for Hip & Spine deformity inversely correlated with physical function capability
• Hip subluxation / dislocation common in non-walking children by age 5 yrs
• Unilateral or bilateral
• Associated with weak hip girdle muscles and abnormal skeletal anatomy (shallow hip, crooked spine)
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Pathophysiology • Hips normal at birth
• Global symmetric weakness
Core and hip girdle muscles
• Ligamentous laxity
• Absence of weight bearing
Attenuates mechanical stimulus for growth and remodeling hip joint Coxa Valgus + persistent femoral anteversion, shallow hip socket
• Associated with Pelvic Obliquity and Scoliosis (unclear which comes 1st)
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Treatment unstable hips in non-ambulatory children
• Controversial
Few natural history studies untreated hips Sporer and Smith JPO (2003)
– >50% with hip instability
– Few had pain at long term follow-up (but not followed into
adulthood)
– Few had functional limitations with seating, positioning,
hygiene
– None had skin breakdown, ulcers
– BUT Pelvic Obliquity & Scoliosis present in 91% non-
ambulatory patients
• Recurrent deformity after surgical treatment in young children
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MY OPINION- Non-walking children
• Prevent hips from dislocating for comfort
• Maintain pelvic alignment to facilitate
sitting balance, use of stander
• May help prevent pelvic obliquity
scoliosis
• If medically stable (pulmonary, cardiac,
nutrition), surgery less complicated in
children 5-10yrs of age
• New treatments showing promise
• Primary disease persists – with growth,
abnormal hip anatomy may reoccur→
revision procedures may be required
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Scoliosis • >50% by age 3
– C-shaped curve
involving entire spine
– Associated with
kyphosis, pelvic obliquity
• Makes sitting difficult
aggravates restrictive lung
disease
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Prevention of scoliosis • No way to prevent scoliosis
• Spinal orthosis may slow progression
• Semi-Rigid (Aliplast) TLSO (Letts, 1992):
Custom molded- anatomically conforming
Generous abdominal opening to allow diaphragmatic breathing
Improved sitting posture and tolerance
Work of breathing decreased in brace (Leoparro, 1999)
Improved posture allows better diaphragm motion
• Supportive seating in wheelchair
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Indications for Spine Surgery
• Expected benefit outweighs negative consequences of natural history & surgical risks
• Curve > 50° with progression
• Difficulty with seating, bracing
• Adequate hip ROM for sitting
• Stable medical status
– nutrition, pulmonary, neurologic
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Goals of Spine Surgery
• Balanced Spine = Head over pelvis • Level Pelvis – symmetric press @ buttock • Prevent progression of deformity
– Growing Rod < 8 y/o, Spine Fusion > 10 y/o,
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“Growing” Rods & VEPTR • Severe progressive scoliosis unresponsive to
bracing child <8y/o
• Equivalent to internal splint
• Non-fusion technique
Limited fixation @ top and bottom of spine to allow growth of spine and thorax
Rods span entire curve Inserted above paraspinal muscles
Dual rod construct enhances stability
Rods lengthened every 6 mos to simulate growth - MAGEC rod more frequently
Vertical Expandable Titanium Rib (VEPTR
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Posterior Spinal Fusion
• Long fusion entire spine pelvis
• Dual Rod, Multi-segmental fixation disperses corrective forces/moments over increased number bone anchors
Sublaminar Wires
Hooks
Pedicle Screws – 3 column fixation, better correction
• Sacral-Pelvic Fixation – if pelvis part of curve – restores level pelvis
• Fuse w/ Autogenous and Allograft bone
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SMA Conference Survey
Please complete your conference survey
at this link: https://www.surveymonkey.com/s/2015AnnualSMAConference
Or fill out the paper survey in your conference folder.
All participants who complete the survey will receive a raffle ticket
to win an iPad! Winner will be announced on Sunday, June 21st at
the Closing General Session.