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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 use of noninvasive bi-phasic positive airway pressure (BiPAP) at night and during daytime sleep, and cough-assist device use at least twice-daily, initiated in the first 3 months after diagnosis. Supportive care was defined as other respiratory support, such as supplemental oxygen and suctioning.1

Since the mid-1990s, 3 main areas of development have occurred in the management of restrictive lung disease in spinal muscular atrophy2:

  • 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) spinal muscular atrophy 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, bilevel positive airway pressure) and invasive ventilation.


Studies have demonstrated that survival in infantile-onset (Type I) spinal muscular atrophy 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, bilevel positive airway pressure) and invasive ventilation.

Spinal muscular atrophy 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, intensive respiratory support (eg, ventilators, cough assistance techniques), and tracheostomy.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 hospitalization and the need for tracheostomy.5

THERAPEUTIC CARE

Researchers are pursuing a variety of therapeutic approaches to develop treatments for SMA. These include8:

  • Survival motor neuron 2 (SMN2) gene enhancement8
  • Gene therapy for SMA8
  • Muscle protection to prevent or restore the loss of muscle function8
  • Neuroprotection of the motor neurons affected by loss of SMN protein8

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 disease center specializing in SMA

Assembling a multidisciplinary care team in the community

While spinal muscular atrophy has a single genetic cause, its presentation, progression, and needs can vary widely.10,11

Clinical specialties involved in an SMA care team may vary based on individual needs, but can include5:

SMA Pediatric Neurologist

Neurologist

SMA Pediatric Pulmonologist

Pulmonologist

SMA Physical Therapist

Physical Therapist

SMA Orthopedist

Orthopedist

SMA Dietitian

Dietitian

Spinal Muscular Atrophy Caregiver

Parent/Caregiver

Parents/caregivers of children with spinal muscular atrophy, like Dany and Terence S., generally become experts in their child’s care, and are often active contributors to the decision-making process in the multidisciplinary care team.

For more information on the roles and responsibilities of those caring for individuals with SMA, click here.

Neuromuscular disease centers specializing in SMA offer expert, coordinated multidisciplinary care, but may not be accessible or practical for all individuals

Spinal Muscular Atrophy Care Team

A dedicated multidisciplinary care team is the emerging paradigm at these centers

Spinal Muscular Atrophy Centers

At some centers, centralized (shared) appointments allow families to see all necessary physicians on a single day at one facility

Spinal Muscular Atrophy Family

These centers provide care for the entire family, which may include genetic counseling and education

Spinal Muscular Atrophy Travel

These centers may provide assistance (eg, parking, meals, lodging) for families traveling to the center

| |Actor portrayal.

Challenges to providing acute care to individuals with SMA were demonstrated in a teaching simulation11

In a teaching simulation, primary care pediatricians were asked to "treat" a 2-month-old infant with Type I spinal muscular atrophy who was seen at a pediatric clinic in acute respiratory failure. The child’s vital signs included 85% O2 saturation and a respiratory rate of 40 breaths per minute with shallow breaths.11

Two people played the child’s parents, who, if asked, expressed their disagreement with the treatment approach (1 parent was in favor of long-term mechanical ventilation and the other parent preferred limited treatment and the implementation of comfort measures only). At the conclusion of the treatment simulation11:

  • 85% percent of the pediatricians posed the ethical dilemma to the parents; 29% did so after the simulated parents broached the subject
  • 88% percent of the pediatricians did not inquire whether the parents understood the diagnosis and the short- and long-term prognosis of the disease
  • Approximately 12% of the pediatricians asked the parents about the previous clinical condition of the child and his quality of life
  • 23% of the pediatricians actively excluded the parents from the decision-making process
  • None of the teams explained the different treatment options that could be considered for a patient with Type I spinal muscular atrophy with respiratory failure or attempted to contact the patient’s physician to discuss the previously established acute care plan

OR

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 room, the diagnosis, current medication, respiratory status, cardiac status, and associated medical disorders should be made clear to the ER staff12
  • The team involved in the respiratory care of the patient should be contacted as soon as possible12

REFERENCES

1. Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012;13(3):e161-e165. 2. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol. 2007;22(8):974-978. 3. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931-1936. 4. Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child. 2011;96:426-432. 5. Wang CH, Finkel RS, Bertini ES, et al; and Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. 6. World Health Organization. WHO definition of palliative care. http://www.who.int/cancer/palliative/definition/en/. Accessed April 25, 2016. 7. The World Federation of Right to Die Societies. Comfort and palliative care. http://www.worldrtd.net/comfort-palliative-care. Accessed April 25, 2016. 8. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81:355-368. 9. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015. 10. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46(1):1-12. 11. Agra Tuñas MC, Sánchez Santos L, Busto Cuiñas M, Rodríguez Núñez A. Spinal muscular atrophy and respiratory failure. How do primary care pediatricians act in a simulated scenario? An Pediatr (Barc). 2015;83(5):336-340. 12. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177-189.

The 2007 Consensus Statement for Standard of Care in Spinal Muscular Atrophy expresses the urgent need for a care standard to help with the multidisciplinary care of individuals with SMA.5

Access Wang et al, J Child Neurol, 2007