“Newly Diagnosed Workshop: SMA Type II and III”

2015 Annual Cure SMA

Conference Westin Hotel – Kansas City, MO

June 18-21, 2015

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

Respiratory Considerations

PULMONARY SPEAKERS

Richard M. Kravitz, MD

Duke University Medical Center

Division of Pediatric Pulmonary and Sleep Medicine

E-mail: Richard.Kravitz@Duke.edu

Phone: 919-684-3364

Richard M. Shell, MD – Division of Pediatric Pulmonary Medicine – Nationwide Children’s Hospital – The Ohio State University – E-mail: Richard.Shell@Nationwidechildrens.org – Phone: 614-722-4766

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

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

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

Results of Respiratory Muscle

Weakness in SMA

SMA type III

• Obstructive apnea

• Breathing muscle weakness in adolescence and adulthood

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

Secretion Mobilization Techniques

• Manual Chest Physiotherapy

or Mechanical Percussion

• Vest Therapy

• IPV

• Cough Assist

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

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)

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.

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.

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?

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?

Nutritional Considerations

Contact Information

Erin Seffrood MS,RD,CSP,CD

American Family Children’s Hospital

E-mail: eseffrood@uwhealth.org

Phone: 608-263-6420

Stacey Tarrant, RD, LDN

Boston Children’s Hospital

E-mail: stacey.tarrant@childrens.harvard.edu

Phone: 617-355-7035

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

Why is Nutrition Important?

• It may help to improve and/or optimize:

– growth

– motor function

– breathing

– illness prevention/recovery/duration

– quality of life

• 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

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

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

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

• 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

• 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

• 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

• 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

– 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

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.

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)

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

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

Rehabilitation and

Orthopedic Management

Musculoskeletal/Rehab Speakers Brian Snyder, MD, PhD

Department of Orthopedics

Children’s Hospital of Boston

Email: Brian.Snyder@childrens.harvard.edu

Kristin Krosschell, PT, DPT, PCS

Northwestern University

Department of Physical Therapy and Human Movement Sciences

Email: k-krosschell@northwestern.edu

Susan Apkon, MD

Department of Rehabilitation Medicine

Seattle Children’s Hospital

Email: susan.apkon@seattlechildrens.org

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)

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?

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

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

Rehabilitation Interventions

• Equipment

• Orthotics

• Therapy

• Physical

• Occupational

• Speech

Goals: Equipment

• Maximize function

• Initiate interventions at developmentally

appropriate stages

• Insure child meets cognitive and social

potential despite physical limitations

Goals: Wheelchairs

• Independent mobility

– Allows child to explore

• Decrease energy expenditure for

ambulatory child

• Optimize positioning

Goals: standers

• “View” the world from an

upright position

• Maintain range of motion at

hips, knees, ankles

• May help…..

– Constipation

– Bone density

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

Therapy

Balance between play and therapeutic activities

Interventions should:

SUPPORT function

MAINTAIN abilities

AUGMENT play and mobility

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.

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.

Various things you might see and wonder about over the weekend

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

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

It’s all about FUN and FAMILY!!

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?

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?

Brian Snyder MD/PhD

Boston Children’s Hospital

Orthopedics

56

Common musculoskeletal issues in children with SMA

• Contractures

• Fragile Bones

– Pathologic fractures

• Hip instability

– Subluxation or dislocation

• Scoliosis

57

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

58

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

59

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

60

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)

61

Hip • Instability

• Dysplasia

• Dislocation

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)

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)

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

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

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

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

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,

“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

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

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.