Spinal Muscular Atrophy (SMA) is a progressive, degenerative neuromuscular disease. Patients with several forms of SMA, specifically, types 0, 1, and severe type 2, do not have a normal life expectancy and will have deaths attributable to the sequelae of SMA.1-3 In patients with serious neurological diseases, palliative care should be part of their comprehensive care plan as it improves quality of life,4 but stigma and ignorance of the utility of palliative care outside of so-called “end-of-life” care remain significant barriers.5
Wang and colleagues in 2007 published the first attempt at a consensus statement that included comments regarding palliative care in SMA patients.6 At the time of this statement, there were no approved therapies for SMA. Therefore, the statement approached the topic of palliation in the setting of SMA as a progressive, fatal disease without expectation of improvement. The authors of the statement therefore echoed the concern of the field that had to balance “quality of life in conflict with duration of life” regarding controversial topics such as long-term invasive respiratory support.6 They made no specific recommendations regarding the relative merits of any interventions; instead, they advised that “there is no moral imperative to any [intervention],” that non-invasive or short-term interventions are usually preferable, and that many choices regarding care are not “unchanging with circumstance.”6 They concluded that SMA patient care teams should employ a “multidisciplinary team approach when possible” and that a referral to palliative care services is “important.”6
While the consensus statement was helpful as a first step in formalizing palliative treatment for SMA patients, the statement mainly highlighted the lack of significant consensus among experts regarding SMA care standards.7 A published summary of a United Kingdom’s experience with implementation of the consensus statement’s recommendations provided evidence of utility for the statement and emphasized that palliative care is part of the expected anticipatory care of patients with SMA.8 The authors emphasized that palliative care needs are more than just acute medical care and include psychological assistance for families.8 They state that palliative care “should be seen as commencing at the time of diagnosis [of SMA] and continuing throughout the infant’s life.”8
The aforementioned study from the United Kingdom,8 along with a publication based on the implementation of these recommendations in France,9 identified potential palliative care needs as follows:
- ventilatory assistance (invasive vs. non-invasive means)
- prevention of respiratory infections (vaccines, antibiotics, pulmonary toilet)
- morphine use for end stage breathlessness/dyspnea
- Feeding and Nutrition
- caloric supplementation (gastrostomy vs. nasogastric tube feeding)
- physiotherapy for postural support
- hip dislocation management (surgery vs. bracing)
- management of scoliosis (in at risk patients)
- Pain management
- Urological monitoring
- Disease progression/increased weakness
- need for family support throughout life of patient and after
- potential for conflict between staff and family
- genetic counseling
Even with implementation of the consensus recommendations, these summaries of post-implementation experiences do not advocate for a singular approach to interventions such as tracheostomy and gastrostomy making critical decisions a dialogue between the multidisciplinary team and family.8,9 As such, decisions regarding palliative care are idiosyncratic and based on the unique circumstances of the patient’s situation.10
The original 2007 statement and subsequent recommendations are in need of revisiting with the advent of Spinraza (nusinersen), the first approved therapy for SMA.11 Looking ahead, several palliative care-related issues appear most prominently in need of consensus within the field. First, population carrier12,13 or newborn screening14 for SMA are possible but not offered universally for many reasons previously including the absence of a proven effective therapy. Second, though Spinraza (nusinersen) represents a breakthrough, it is not curative and as such may not benefit all patients with SMA equally, raising the question of how recommendations regarding some of the above interventions should be approached in an even more nuanced way than previously recommended.11 Finally, some patients with SMA type 2 (or with effective therapy perhaps type 1 SMA patients as well) may achieve sufficient age to have achieve awareness of their medical situation and provide input regarding their care which can present a dilemma if the patient’s desires are at odds with their family’s, team’s, or society’s expectations.10
1. Grotto S, Cuisset JM, Marret S, et al. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients. J Neuromuscul Dis. 2016;3(4):487-495.
2. Gregoretti C, Ottonello G, Chiarini Testa MB, et al. Survival of patients with spinal muscular atrophy type 1. Pediatrics. 2013;131(5):e1509-1514.
3. Verhaart IEC, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet journal of rare diseases. 2017;12(1):124.
4. Kavalieratos D, Corbelli J, Zhang D, et al. Association Between Palliative Care and Patient and Caregiver Outcomes: A Systematic Review and Meta-analysis. Jama. 2016;316(20):2104-2114.
5. Creutzfeldt CJ, Kluger B, Kelly AG, et al. Neuropalliative care: Priorities to move the field forward. Neurology. 2018;91(5):217-226.
6. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.
7. Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular disorders : NMD. 2018;28(3):197-207.
8. Roper H, Quinlivan R. Implementation of “the consensus statement for the standard of care in spinal muscular atrophy” when applied to infants with severe type 1 SMA in the UK. Archives of Disease in Childhood. 2010;95(10):845-849.
9. Cuisset JM, Estournet B. Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. Revue neurologique. 2012;168(12):902-909.
10. Drake M, Cox P. Ethics: end-of-life decision-making in a pediatric patient with SMA type 2: the influence of the media. Neurology. 2012;78(23):e143-145.
11. King NMP, Bishop CE. New treatments for serious conditions: ethical implications. Gene therapy. 2017;24(9):534-538.
12. Muralidharan K, Wilson RB, Ogino S, Nagan N, Curtis C, Schrijver I. Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. The Journal of molecular diagnostics : JMD. 2011;13(1):3-6.
13. Kraszewski JN, Kay DM, Stevens CF, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018;20(6):608-613.
14. Ross LF, Clarke AJ. A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. Pediatr Neurol. 2017;77:12-22.