Improvement in care leads to improvement in survival. The medical care of SMA over the last decade has improved across all SMA types.1 This has led to a substantial improvement in survival of infantile-onset SMA.2
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
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IMPROVED CARE APPROACHES IN SMA
Important advances in the treatment of SMA since 2007 include:1
Expansion of the use of non-invasive ventilation and cough machine support
Introduction of early spinal surgery
Greater emphasis on a multidisciplinary approach to care
Advent of clinical trials and new drug approvals in spinal muscular atrophy
Survival in infantile-onset (Type I) spinal muscular atrophy has improved substantially (p<0.001)2Survival of patients with SMA type 1 patients born in 1995-2006 (n = 78) was compared with that of patients born in 1980-1994 (n = 65)
Year of birth
Survival Probability after a year of birth
Median survival time (months)
1980-1994
37%
7.5
1995-2006
79%
24
Adoption of comprehensive supportive care in infantile-onset (Type I) spinal muscular atrophy has increased.2,3
Adopting a proactive approach to care can influence the trajectory of disease progression and improve the natural history of SMA.1
SMA is a neuromuscular disease that requires multidisciplinary medical care, and in some instances, a palliative approach.1
PROACTIVE CARE1,2
An approach to intensively manage the symptoms of the disease. For children with SMA, a proactive approach may include earlier placement of a feeding tube, intensive respiratory support (e.g. non-invasive ventilation and cough assist machines), early spinal surgery and regular sessions of physical therapy.
PALLIATIVE CARE1,4,5
An approach that aims to improve quality of life and relieve stress and discomfort. For children with SMA, the use of non-invasive ventilation may help avoid hospitalisation and the need for tracheostomy.
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MUSCULOSKELETAL SUPPORT AND INTERVENTIONS
Musculoskeletal issues in SMA, such as scoliosis, may require bracing or surgery. Spinal curvature is a common concern, with scoliosis affecting 60-90% of children with SMA types 1 and 2 and initial presentation in early childhood.1
This may be addressed by surgical correction or positional support (e.g. bracing). The decision to perform surgical correction of complications such as scoliosis is based on the child’s spine curvature, pulmonary function, and bone maturity.1,6
INTERVENTIONS
POTENTIAL BENEFITS
CONSIDERATIONS
SURGERY
May help preserve balance when sitting and realign the distorted thorax 1
May increase overall comfort, quality of life, and independence 6
May impact ability to perform lumbar puncture
Surgical treatment of spinal deformity should be delayed until after the age of 4 years 1
Individuals with spinal muscular atrophy may be at higher risk of surgical complications than the general population 7
BRACING
May improve sitting balance, endurance, and overall physical appearance 7
May cause comfort 6
More conservative approach than surgery that allows for further growth 7
Unable to prevent or delay development of scoliosis 1,7
May cause some discomfort 6
Lung function may be adversely affected by rigid bracing in children ≤8 years of age
Expiratory lung volume may be lower with bracing 8
Thoracic bracing is recommended for children with a major curve Cobb angle >15-20 degrees 1
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Nutritional support and feeding are critical considerations in caring for a child with SMA.1,8,11
NUTRITIONAL SUPPORTS AND INTERVENTIONS
Children with SMA may have difficulty eating due to weak swallowing muscles and poor head control, putting them at risk of aspiration and poor nutrition. Feeding tubes may be an option for children when there is concern about growth failure, insufficient caloric intake or the safety of oral feeding.1,11
Common nutritional issues
Common issues affecting nutrition in children with spinal muscular atrophy include:
ISSUE
DESCRIPTION
HOW IT CAN AFFECT PATIENT
ASPIRATION 1
Food or gastric contents enter the trachea 12
Sudden onset of respiratory distress and pneumonia 12
NASOGASTRIC TUBE
Chronic constipation and faecal impaction may occur 13,14
DYSPHAGIA (DIFFICULTY SWALLOWING)
Poor head control may affect the safety of swallowing 15
In older children, limited range of jaw movement, decreased bite force, and fatigue in the muscles involved in chewing may contribute to swallowing difficulty 16
Poor weight gain in patients with intermediate SMA 15
Patients may be at risk of aspiration of food or liquids and aspiration pneumonia 15
FEEDING PROBLEMS
Bloating, spitting up, vomiting after meals, abdominal distention 14
May lead to undernutrition 14
GORD (GASTRO-OESOPHAGEAL REFLUX DISEASE)
Scoliosis may contribute to increased abdominal pressure leading to hiatal hernia and reflux gastro-oesophagitis 17
Constipation can worsen gastric reflux or respiratory symptoms 9
Individuals may experience heartburn and pain 17
Silent GORD may lead to increased risk of aspiration of stomach contents into the lungs 14
OBESITY/OVERNUTRITION
Non-ambulatory individuals with SMA have increased fat mass and may become overweight 18
Excessive weight gain due to decreased activity, and a reduction in overall metabolic demand 19
Obesity may lead to pain and increased risk of complications in the hips and back 14
Obese individuals are at increased risk of diabetes and hypertension 14
UNDER-NUTRITION
Weight for age lower than the 5th percentile may suggest undernutrition 14
Weight for length less than the 50th percentile may indicate undernutrition 14
Undernutrition may lead to growth failure 12
May increase the risk of infection 14,20
May lead to difficulty with wound healing 14
Increased tendency for pressure sores 14
May lead to fatigue 20
INTERVENTIONS
POTENTIAL BENEFITS
CONSIDERATIONS
NASOJEJUNAL/ NASOGASTRIC TUBE
Short-term solution until a long-term gastrostomy tube can be placed 1
Recommended for proactive care in non-sitters and sitters following a failed swallow study or growth failure 1
Feeding tubes are commonly used in sitters for supplementary rather than total nutrition 1
Suggestions for feeding tubes depend on the individual situation 1
GASTROSTOMY TUBE (G-tube)
Long-term option for feeding and nutrition in children with SMA 1
Experts prefer that Nissen fundoplication is carried in conjunction with G-tube placement secondary to: 1
Decreased gastrointestinal motility
Reflux
Increased pressure related to respiratory treatments
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RESPIRATORY SUPPORTS AND INTERVENTIONS
Respiratory compromise is the major cause of morbidity and mortality in SMA. These children may have decreased respiratory function, underdeveloped lungs, and difficulty coughing and clearing secretions.6,21
Children with SMA demonstrate a wide range of respiratory compromise 22
Respiratory compromise in children with infantile-onset (consistent with Type I) SMA may be differentiated into 3 categories:22
Infants ≤5 months of age who require both continuous ventilatory support and non-oral nutritional support
Infants with ineffective cough who develop acute respiratory compromise during upper respiratory tract infections and require non-oral nutritional support before 24 months of age
Infants who do not develop respiratory compromise or who do not require non-oral nutritional support until after 24 months of age (approximately 10% of all children with infantile-onset SMA)
Ventilatory support provided in the home can range from non-invasive ventilation (e.g., nasal mask) to invasive ventilation (e.g., permanent airway, such as a tracheostomy tube).23
INTERVENTIONS
POTENTIAL BENEFITS
CONSIDERATIONS
NON-INVASIVE VENTILATION (NIV)
Non-invasive
Helps prepare for respiratory failure, prevents/minimises chest wall distortions and relieves shortness of breath 21
Focus is on correcting gas exchange and reducing the work of breathing 21
NIV recommended in all symptomatic infants and in non-sitters prior to signs of respiratory failure 21
NIV interfaces should be filled by skilled physiotherapists using at least two interfaces with different skin contact points 21
CPAP is an alternative option for younger patients for short-term use to maintain resting lung volume 21
May cause fatigue 21
COUGH ASSIST MACHINE (Insufflator-exsufflator)
Non-invasive
Primary mode of airway clearance 21
No significant risk of pneumothorax in most patients 21
May be used with an oronasal mask 22
Should be made available to all non-sitters and introduced proactively based on cough effectiveness or peak cough flow 21
Insufflation and exsufflation pressures should be gradually increased to 30-40 cm H2O of positive or negative pressure respectively, or increased to maximum tolerated pressure 21
Potential risk of aerophagia and gastric distention 21
May be intimidating for both parents/carers and children
Full cooperation is uncommon before 2 years of age 22
TRACHEOSTOMY (Invasive ventilatory support requiring long-term airway)
Potentially life-prolonging
Option in selected patients if NIV fails or is insufficient 21
Invasive
Permanent
Potential ethical issues 21
May fail to improve quality of life and prolong suffering 21
Increases airway secretions 22
Impedes speech development 22
Decision to undertake tracheostomy should be based on individual’s clinical status, prognosis and quality of life 21
In close discussion with the patient’s family 21
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ASSEMBLING A MULTIDISCIPLINARY CARE TEAM IN THE COMMUNITY
While some children receive multidisciplinary care from physicians in their community, others go to neuromuscular disease centres specialising in SMA. While spinal muscular atrophy has a single genetic cause, its presentation, progression, and needs can vary widely.9,10
Clinical specialties involved in a child’s care team may vary based on individual needs, but can include:1
Paediatric Neurologist*
Paediatric Pulmonologist
Physiotherapist*
Orthopaedic Surgeon*
Dietitian
Parent/Caregiver
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.*Actor portrayal. The image used is a stock photo.
Neuromuscular disease centres specialising in SMA offer expert, coordinated multidisciplinary care, but may not be accessible or practical for all children.
A dedicated multidisciplinary care team is the emerging paradigm at these centers
At some centres, Centralised (shared) appointments allow families to see all necessary physicians on a single day at one facility
These centers provide care for the entire family, which may include genetic counselling and education
These centers may provide assistance (e.g parking, meals, lodging) for families traveling to the centre
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The updated 2017 Consensus Statement for Standard of Care in Spinal Muscular Atrophy reflects new data and important advances in the management of SMA.1,21
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
References
1. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscl Disord. 2018;28(2):103-115.
2. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69(20):1931-1936.
3. 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.
6. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. [online] 2013 Mar [cited 2020 Oct 15]. Available from: URL: http://columbiasma.org/pt-ot.html.
7. Mullender M, et al. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis 2008;3:14.
8. Tangsrud SE, Carlsen KC, Lund-Petersen I, Carlsen KH. Lung function measurements in young children with spinal muscular atrophy; a cross sectional survey on the effect of position and bracing. Arch Dis Child 2001;84(6):521-524.
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.
12. Birnkrant DJ, et al. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding. Ped Neurol 1998;18(5):407-410.
13. Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol 2007;22(8):974-978.
15. Messina S, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 2008;18(5):389-393.
16. Cha TH, Oh DW, Shim JH. Noninvasive treatment strategy for swallowing problems related to prolonged nonoral feeding in spinal muscular atrophy. Dysphagia 2010;25(3):261-264.
17. Yang JH, Kasat NS, Suh SW, Kim SY. Improvement in reflux gastroesophagitis in a patient with spinal muscular atrophy after surgical correction of kyphoscoliosis. Clin Orthop Relat Res 2011;469(12):3501-3505.
18. Sproule DM, et al. Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord 2010;20:448-452.
19. Sproule DM, et al. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord 2009;19(6):391-396.
20. Bladen CL, et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol 2014;261(1):152-163.
21. Finkel RS, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018;28(3):197-207.
22. Bach JR. The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy. Paediatr Resp Rev 2008;9(1):45-50.
