A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes

Abstract

Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.

The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy

“…Key questions were replicated to allow direct comparison of the data generated from both surveys. As the UK general population are understood to have poor knowledge of SMA, information was included within the UK GenPop Survey to explain what SMA is and how it affects people in its various forms. This information was replicated with permission from SMA Support UK's resources and as such is certified by the UK Information Standard.…”

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

“…Clinical course varies depending on the type of SMA. SMA is most often caused by recessive mutations in the survival motor neuron gene ( SMN1 ) and it is one of the commonest genetic causes of mortality in infants . There are, however, a significant number of SMA cases with heterogenous non‐ SMN1 ‐related causes.…”

Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations

“…SMA is one of the most common genetic causes of infant death. 15 Clinical trial results of nusinersen administered intrathecally showed good safety and tolerability profiles and promising clinical outcomes. 8 In a phase 2 open-label study, patients with type I SMA who were treated with nusinersen demonstrated significant (P = .01) improvements in motor function scores, incremental achievement of motor milestones such as head control, rolling, sitting, and improvements in neuromuscular electrophysiology compared to baseline and published natural history data.…”

“…SMA is one of the most common genetic causes of infant death . Clinical trial results of nusinersen administered intrathecally showed good safety and tolerability profiles and promising clinical outcomes .…”