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Understanding roles in spinal muscular atrophy (SMA) care

Assembling a multidisciplinary care team in the community

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While spinal muscular atrophy has a single genetic cause, presentation, progression, needs, and availability of specialties can vary widely. Clinical specialties involved in a child’s care team may vary based on individual needs.1,2

The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy serves as a guideline for managing common medical concerns in children with spinal muscular atrophy.2

Access Wang et al, J Child Neurol, 2007 here

The following is an example of a care team for educational purposes only.
Care team members may vary for individuals with spinal muscular atrophy.

Tap on a care team member to learn more about their role.

SMA Pediatric Neurologist

Paediatric Neurologist*

Paediatric neurologists are often the first specialists to meet with the parents of children with spinal muscular atrophy.2
Primary concerns may include:
  • Diagnosis
  • Further evaluation
 Common assessments may include:
  • Neurological examination
  • Genetic testing and analysis for confirmatory diagnosis
  • Electromyography (EMG) or nerve conduction studies as part of the differential diagnosis
 Short- and long-term management may include:
  • Communicate with multidisciplinary care team
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SMA Pediatric Pulmonologist

Paediatric Pulmonologist

Paediatric pulmonologists work closely with children with spinal muscular atrophy who may have decreased respiratory function due to issues such as underdeveloped lungs or a weak, ineffective cough.3
Primary concerns may include2:
  • Impaired cough, resulting in poor clearance of airway secretions
  • Hypoventilation during sleep
  • Chest wall and lung underdevelopment
  • Recurrent infections
 Common assessments may include2:
  • Pulmonary function (majority of nonsitters may be too weak or young to test)
  • Cough peak flow
  • Respiratory muscle strength
  • Chest x-ray
  • Sleep study
  • Swallow function evaluation
 Short-term management may include2:
  • Chest physiotherapy (CPT)
  • Use of BiPAP machine during sleep
  • Use of cough assist machine and/or other secretion-clearing machines
Long-term management may include2:
  • Tracheostomy

For related information on caring for children with SMA, click here.

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SMA Physiotherapist

Physiotherapist

Exercise and the use of orthotics and other rehabilitative equipment may be recommended by a physiotherapist. These decisions may be based on the age of the individual with spinal muscular atrophy, neuromuscular involvement, and developmental stage.3
Primary concern2:
  • Contracture of muscles can cause discomfort and pain, as well as decreased mobility and independence
 Common assessments may include2:
  • Evaluation of range of motion, muscle strength, and mobility
    • —Tests include goniometry, manual muscle testing, or myometry
    • —Spine and hip radiographs are also consulted
  • Evaluation of equipment, assistive technology, and environmental access
 Short- and long-term management may include2:
  • Range of motion exercises (for contracture)
  • Stretching/bracing (for flexibility)
  • Fitting of orthotics, splints, or braces
  • Leisure, adaptive sport, and play activity
  • Exercise (e.g. swimming)
  • Weight-bearing time with standing devices
    • —Standing devices may be supine, prone, or dynamic (allowing movement)3
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SMA Orthopedist

Orthopaedist*

Muscular weakness often leads to orthopaedic issues in children with spinal muscular atrophy, resulting in skeletal misalignment and difficulty with movement, which may require intervention by an orthopaedist.2
Primary concerns may include2:
  • Limited mobility of trunk and extremities
  • Contractures
  • Spinal deformity
  • Limited mobility
  • Limited ability to perform activities of daily living (ADLs)
  • Increased risk of pain
  • Increased risk of osteopenia
  • Increased risk of fractures
 Common assessments may include2:
  • Range of motion
  • Strength
  • Motor function
  • Seating and mobility
  • Potential benefit of orthotics
  • Radiographs of the spine and other joints
 Short-term management may include2:
  • Positional support (e.g. bracing)

Long-term management may include2:
  • Surgery to help correct spinal curvature, etc.

For related information on caring for children with SMA, click here.

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SMA Gastroenterologist Nutritionist

Dietitian*

Children with spinal muscular atrophy may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and/or poor nutrition. These issues may require the guidance of a dietitian with experience in spinal muscular atrophy.4
Primary concerns may include2:
  • Feeding and swallowing problems, potentially resulting in aspiration pneumonia, which can be fatal
  • Growth deficit and undernutrition
  • Obesity, which is more common in non-ambulatory patients

    • A dietitian may consult with other healthcare providers (e.g. gastroenterologists, surgeons) about short- and long-term management of feeding and pharmacologic issues.

 Short-term management may include4:
  • Nasogastric tubes
  • Nasojejunal tubes
  • Pharmacological interventions (prokinetics, proton pump inhibitors, etc.)
 Long-term management may include2,4:
  • Gastrostomy tube (G-tube)
  • Nutritional support
  • Pharmacological interventions (prokinetics, proton pump inhibitors, etc.)

For related information on caring for children with SMA, click here.
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Spinal Muscular Atrophy Caregiver

Parent/Caregiver

Parents/caregivers of children with spinal muscular atrophy, such as Dany and Terence S., often become experts in their child’s care and are important members of the multidisciplinary care team.
  • They develop a high level of knowledge about the disease and progress of their individual child
  • They are highly mobilised, making frequent use of the internet and social media for both medical and social support
  • They deliver the majority of the healthcare interventions their children receive on a day-to-day basis, including respiratory support, cough assistance, and nutrition/feeding
  • Parents are often the key drivers of the interventions their children will or will not receive
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*Actor portrayal.

Other care team members may include:

Child psychologist

Child psychologists can provide counselling and guidance on a wide range of psychological and social problems that may arise, including:

  • Emotional and developmental problems
  • Coping with stresses related to school
  • Psychological difficulties for siblings of children with spinal muscular atrophy

Genetic medical counsellor

Genetic counsellors can provide information on the consequences and genetic background of spinal muscular atrophy. They can advise families on the likelihood of developing or transmitting the disease, suggest genetic carrier testing for the parents and other children in the family, and the available options in management and family planning.

Occupational therapist

While a physiotherapist can assist with increasing overall mobility through exercise and assistive devices, an occupational therapist helps individuals increase their independence in specific everyday tasks like dressing, bathing, or handling utensils. They may recommend adaptive equipment or home modifications, such as the installation of ramps or widening of doorways. 

 

 

Paediatric anaesthetist

Paediatric anaesthesiology is another important aspect in the care of children with spinal muscular atrophy who may have to undergo surgery such as tracheostomy or spinal stabilisation. They handle planning of care before, during, and after surgery, as well as delivering anaesthesia.

Paediatrician

A paediatrician is a medical doctor who has been trained to diagnose and treat a broad range of childhood illnesses, from minor health problems to serious diseases.

NMD nurse

An NMD nurse can be an important first-line caregiver given the risk of respiratory illness and works closely with children and families in hospitals. She can provide you with educational materials and connect you with support groups such as SMA Europe to improve your understanding of the disease.

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How does a parent/caregiver assemble a multidisciplinary care team?

Access SMA care strategies