Children with Spinal Muscular Atrophy (SMA) have complex medical needs which can lead to diminished quality of life.1 Historically, patients diagnosed with SMA and their families report significant stress and a low quality of life.2-4 It is incorrect to assume that more severe forms of SMA in which patients may not be ambulatory are associated with lower quality of life, for patients’ reports of their quality of life are not correlated with their motor function.5 More recent surveys indicate that patients with SMA are optimistic about medical progress in SMA treatment such that even a therapy that promised just stabilization of motor function would increase perceived quality of life.6 There are regional variations in reported quality of life in SMA owing largely to economic and social factors indicating a need for maintenance of worldwide standards of care in SMA.7-9 It is important to note that measuring quality of life in SMA is a challenge because there is no quality of life assessment tool specific to SMA, and existing pediatric quality of life tools therefore do not capture the full breadth and depth of the disease for every patient.10
Despite the absence of a precise assessment method, the authors of the 2007 “Consensus Statement for Standard of Care in Spinal Muscular Atrophy“ recognized that optimizing quality of life for patients with SMA would involve multiple medical disciplines and an appreciation of patient-specific factors.11 With respect to every discipline’s participation, the consensus advocated for early and appropriately aggressive intervention.11 Other SMA experts echo the sentiment that early involvement of a multidisciplinary care team, as early as immediately after the SMA diagnosis is made, increases quality and duration of life in any patient with SMA.12 Implementation of the recommendations in this Consensus Statement can reduce severity of SMA and increase patient-reported quality of life.13,14
The recent updates15,16 of these standard of care guidelines affirms the core messages of early, aggressive intervention and a multidisciplinary patient-centered care approach producing the best quality of life as discussed below.
The Consensus statement recognizes that the most prominent mortal concern for many patients with SMA is the need for respiratory support. The ethical issue of invasive ventilation support in the most severe forms of SMA relates to prolonging life at the risk of compromising quality of life.11,15,17 The decision to pursue tracheostomy and invasive ventilatory support remains controversial and typically is deferred to the wishes of the patient’s families, who should be informed of all possible choices for intervention.11,15,17,18 For patients with SMA who do not require full-time ventilatory support but still have respiratory weakness that impacts quality of life, adding nocturnal non-invasive respiratory support such as continuous positive airway pressure treatment at bedtime or as needed can significantly improve quality of life by lowering infection frequency and increasing sleep quality.11,15,19
Patients with SMA have feeding and nutritional issues, and gastrointestinal complications like reflux can compromise other areas such as respiration.1,11,16 Thus, the authors of the Consensus Statement advocate for early assessment of feeding and swallowing and aggressive consideration of a gastrostomy tube if feeding appears unsafe or may become unsafe in the natural history of the disease.11,16 Parents of patients with SMA state that the decision to place a gastrostomy is a difficult one, and patients with SMA report grief when traditional oral feeding becomes unsafe for them.3 Placement of a gastrostomy tube improves caregiver reported quality of life.13
Managing orthopedic complications like scoliosis with definitive surgery appears to improve quality of life directly20 and indirectly by improving pulmonary function.21 Other physical therapy interventions to maximize motor function such as orthotics and ambulatory assistance devices also improve quality of life; thus regular assessment of orthopedic and physical therapy needs are a necessity.11,22 The multidisciplinary team approach to SMA care that includes physical, occupational, and speech therapists improves quality of life in SMA.11 Given the disconnect between motor function and perceived quality of life in SMA,5 the goal with every SMA patient should be ensuring the best quality of intervention for each patient regardless of where in the disease severity spectrum they might fall.11,15
Chronic pain occurs frequently in patients with SMA and leads to diminished quality of life but is poorly understood and undertreated.23 Scoliosis and other orthopedic interventions can address some causes of chronic pain in SMA and should be offered as definitive therapy.16,20,23 A palliative care approach to pain with comprehensive evaluation by palliation specialists can improve quality of life in patients with SMA.24
Young adult and adult patients with SMA report symptoms such sexual dysfunction and mental health issues seem trivialized because physicians fail to inquire about them or view them as inevitable consequences of progressive disease.25 Patients report that living with SMA is challenging but that strong therapeutic relationships with providers are beneficial in of themselves to their perceived quality of life.2
An estimate of quality of life with respect to cost indicates that direct non-healthcare costs, which the study defined as informal caregiving (for example, family members preparing meals for the patient) account for more than 2/3 of the total annual cost for healthcare associated with SMA.9 This invisible “cost” is why parents of patients with SMA cite support for activities of daily living as a critical gap in their needs that assignment of a case coordinator and expanded access to social services could address.26
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