In a study of individuals (n=49) with infantile-onset (Type I) SMA, those receiving early proactive noninvasive respiratory care did better compared with those treated with supportive respiratory care1

Early proactive respiratory care was defined as:1

  • use of noninvasive bi-level positive airway pressure (BiPAP) at night and during daytime sleep, and
  • cough-assist device used at least twice-daily, initiated in the first 3 months after diagnosis. 

Supportive care was defined as:1

  • other respiratory support, such as supplemental oxygen and suctioning.

Since the mid-1990s, three main areas of development have occurred in the management of restrictive lung disease in SMA:2

  • Noninvasive ventilation using new technology
  • Awareness of the importance of identifying sleep-disordered breathing
  • New multidisciplinary approach to care

Adoption of comprehensive supportive care in infantile-onset (Type I) SMA has increased3,4

SUPPORTIVE CARE

YEAR OF BIRTH: 1980-1994
(% of patients receiving)
(n=65)

YEAR OF BIRTH: 1995-2006
(% of patients receiving)
(n=78)

Ventilation*

31%

82%

Mechanical insufflation/exsufflation
(MI-E)

8%

63%

Gastrostomy
tube feeding

40%

78%

*P<0.05 for the comparison year of birth 1995-2006 vs 1980-1994.
Includes noninvasive (eg, bi-level positive airway pressure) and invasive ventilation.


Studies have demonstrated that survival in infantile-onset (Type I) SMA has changed over time3

Survival probabilities (%) at 12 months of age based on the year of birth for death or ventilationठfor more than 16 hours per day3

YEAR OF BIRTH

SURVIVAL PROBABILITY (%)
AT 12 MONTHS

MEDIAN SURVIVAL
(MONTHS)

1980-1994

26%

7.5

1995-2006

59%

24

Kaplan-Meier method.
§Includes noninvasive (eg, bi-level positive airway pressure) and invasive ventilation.

SMA is a neuromuscular disease that usually requires multidisciplinary medical care, or in some instances, a palliative approach5

OR

COMPREHENSIVE CARE

Comprehensive care often involves the participation of multiple disciplines to manage the symptoms of the disease. For individuals with SMA, interventional supportive care may include earlier placement of a feeding tube and intensive respiratory support (e.g. ventilators, cough assistance techniques).5

PALLIATIVE CARE

The goal of palliative care is to improve quality of life and relieve stress and discomfort.6,7 For individuals with SMA, the use of noninvasive ventilation may help avoid hospitalisation and the need for tracheostomy.5

Note: Tracheostomy is not usually offered in Australia.

THERAPEUTIC CARE

Researchers are pursuing a variety of therapeutic approaches to develop treatments for SMA. These include:8

  • Survival motor neuron 2 (SMN2) gene enhancement
  • Gene therapy for SMA
  • Muscle protection to prevent or restore the loss of muscle function
  • Neuroprotection of the motor neurons affected by loss of SMN protein

Find out more about the available treatment for SMA

As SMA progresses, the approach to care may need to change over time.5

While some individuals receive multidisciplinary care from physicians in their community, others go to a neuromuscular clinic specialising in SMA

Assembling a multidisciplinary care team in the community

While SMA has a single genetic cause, its presentation, progression, and needs can vary widely.9,10

Clinical specialties involved in an SMA care team may vary based on individual needs,
but can include:5

Neurologist or paediatric neurologist

Neurologists are often the first specialists to meet with individuals who have SMA.5

Primary concerns may include:5

  • Diagnosis
  • Further evaluation

Common assessments may include:5

  • 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:5

  • Communication with multidisciplinary team

Respiratory physician

Respiratory physicians work closely with children with SMA who may have decreased respiratory function, underdeveloped lungs, and difficulty clearing secretions.5

Primary concerns may include:5

  • Impaired cough, resulting in poor clearance of airway secretions
  • Hypoventilation during sleep
  • Chest wall and lung underdevelopment
  • Recurrent infections

Common assessments may include:5

  • Pulmonary function (majority of nonsitters may be too weak or too young to test)
  • Cough peak flow
  • Respiratory muscle strength
  • Chest x-ray
  • Sleep study
  • Swallow function evaluation

Short-term management may include:5

  • Chest physiotherapy (CPT)
  • Use of BiPAP machine during sleep
  • Use of cough assist machine and/or other secretion-clearing machines

Physiotherapist

Physiotherapists may recommend exercise and/or the use of orthotics and other rehabilitative equipment. These decisions may be based on the age of the individual with SMA, neuromuscular involvement, and developmental stage.11

Primary concern:5

  • Contracture of muscles can cause discomfort and pain, as well as decreased mobility and independence

Common assessments may include:5

  • 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 include:5

  • Range of motion exercises (for contracture)
  • Stretching/bracing (for flexibility)
  • Fitting of orthotics, splints or braces
  • Leisure, adaptive sport and play activities
  • Exercise (e.g. swimming, hydrotherapy)
  • Weight-bearing time with standing devices
    • Standing devices may be supine, prone or dynamic (allowing movement)11

Orthopaedic specialist and/or surgeon

Muscular weakness often leads to orthopaedic issues in individuals with SMA, resulting in skeletal misalignment and difficulty with movement, which may require intervention by an orthopaedist.5

Primary concerns may include:5

  • 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 include:5

  • Range of motion
  • Strength
  • Motor function
  • Seating and mobility
  • Potential benefit of orthotics
  • Radiographs of the spine and other joints 

Short-term management may include:5

  • Positional support (e.g. bracing)

Long-term management may include:5

  • Surgery to help correct spinal curvature due to scoliosis

Dietitian

Individuals with SMA 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 SMA.12

Primary concerns may include:5

  • 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

Common assessments may include:5

  • Nasogastric tubes
  • Nasojejunal tubes
  • Pharmacological interventions (prokinetics, proton pump inhibitors, etc.)

Long-term management may include:5,12

  • Percutaneous endoscopic gastrostomy tube (PEG tube)
  • Nutritional support
  • Pharmacological interventions (prokinetics, proton pump inhibitors, etc.) 

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

Parent/Caregiver

OR

Parents/caregivers of children with SMA generally become experts in their child’s care, and are often active contributors to the decision-making process in the multidisciplinary care team.

  • Parents develop a high level of knowledge about the disease and progress of their individual child
  • They frequently use the internet and social media for both medical and social support
  • They deliver the majority of 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

The information above is based on opinions and experiences compiled from parents and caregivers of children with SMA and should not be relied on as an alternative to medical advice from a healthcare professional.

Neuromuscular clinics specialising in SMA offer expert, coordinated multidisciplinary care

 

  • A dedicated multidisciplinary care team is the emerging paradigm at these centres
  • At some centres, centralised (shared) appointments allow families to see all necessary physicians on a single day at one facility
  • These centres provide care for the entire family, which may include genetic counselling and education
  • These centres may provide assistance (e.g. parking, meals, lodging) for families travelling to the centre

Locate your nearest neuromuscular clinic using our Clinic Finder

Advance acute-care planning is important. Consider discussing with the family appropriate responses to potentially life-threatening complications such as respiratory distress.5

 

  • Responses may include a range of interventions, from noninvasive ventilatory support to endotracheal intubation and emergency resuscitation5  
  • Upon arriving at the emergency department, the diagnosis, current medication, respiratory status, cardiac status, and associated medical disorders should be made clear to the hospital staff13
  • The team involved in the respiratory care of the patient should be contacted as soon as possible13

REFERENCES

1. Lemoine TJ, et al. Pediatr Crit Care Med. 2012;13:e161–e165. 2. Iannaccone ST. J Child Neurol. 2007;22:974–8. 3. Oskoui M, et al. Neurology. 2007;69:1931–6. 4. Chatwin M, et al. Arch Dis Child. 2011;96:426–32. 5. Wang CH, et al; J Child Neurol. 2007;22:1027–49. 6. World Health Organization. WHO definition of palliative care. Available at: http://www.who.int/cancer/palliative/definition/en/. Accessed November 2017. 7. The World Federation of Right to Die Societies. Comfort and palliative care. Available at: http://www.worldrtd.net/comfort-palliative-care. Accessed November 2017. 8. Farrar MA, et al. Ann Neurol. 2017;81:355–68. 9. Darras BT, et al. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015. 10. Markowitz JA, et al. Pediatr Neurol. 2012;46:1–12. 11. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. Available at: http://columbiasma.org/pt-ot.html. Accessed November 2017. 12. Cure SMA. Tube feeding and SMA: recommendations and practices. Available at: http://www.curesma.org/documents/support--care-documents/2015-conference-tube-feeding.pdf. Accessed November 2017. 13. Bushby K, et al. Lancet Neurol. 2010;9:177–89.