Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database

Abstract

Purpose: The purpose of this study was to describe stander use in a natural history cohort of drug therapy-naïve children with spinal muscular atrophy (SMA) who are not walking and identify factors associated with consistent stander use. Methods: Data from 397 children with SMA types 1 and 2 characterized the prevalence and frequency of stander use. Predictors of consistent stander use explored were SMA type, survival motor neuron 2 gene (SMN2) copy number, respiratory support, and motor performance. Results: Prevalence of consistent stander use was 13% in type 1 and 68% in type 2. SMA type, SMN2 copy number, respiratory support, and head rotation control each predicted consistent stander use. Conclusions: Findings characterize stander use in children with SMA who are not walking, address important safety considerations, identify factors that may inform physical therapists' clinical decision-making related to standing program prescription, and provide guidance for future prospective studies.

Enhancing Function, Fun and Participation with Assistive Devices, Adaptive Positioning, and Augmented Mobility for Young Children with Infantile-Onset Spinal Muscular Atrophy: A Scoping Review and Illustrative Case Report

“…Most references were eliminated on title and abstract review. Following full-text review of 17 articles only five primary source articles were found to include children diagnosed with SMA-1 [33][34][35][36][37]. See Figure 1 for PRISMA flow chart outlining each phase of the process.…”

“…Disabilities 2021, 1, 4 did either did not include or did not explicitly report data from individuals with SMA-1 [38][39][40][41][42][43][44][45][46][47][48][49]. Five articles met inclusion criteria and are included in Table 1; one described power mobility skill development in a case-series of six children including only one child diagnosed as SMA-1 [34]; another described results from an internet-based survey of 32 parents of children with SMA-1 regarding use of speech generating devices and other augmentative communication supports [33]; a third study reported results of a retrospective cohort describing orthotic, positioning and mobility equipment use including 14 children with SMA-1 [35]; a qualitative study explored parents experiences with wheelchair provision and included parents of one child diagnosed as SMA-1 and another described as SMA-1-2 [36]; while a fifth study included data on stander use in 152 children with SMA-1 [37]. Three studies did not include individuals who could be described as 'treated' SMA-1 based on study date [34,35] or explicit statement [37].…”

“…Studies included provide descriptive rather than experimental evidence and a formal quality rating was not completed. However, the two cohort studies [35,37], included significant numbers representing our target population, and the study exploring the use of standing [37] in a natural history cohort included participants from multiple centers in the US, as well as a European and a Canadian center, suggesting results may be widely applicable. The survey of parents regarding communication [33] recruited from a large international register and is the first to explore this topic.…”

“…A report was recently published describing stander use in a cohort of 397 children with SMA-1 or type 2 who had not been treated with the newer drug interventions [37]. Consistent stander use was 68% in SMA-2 in comparison to 13% for type 1 and reported for children from as young as 6 months in both groups.…”

“…The authors recommended earlier provision of AFO's to children with non-ambulatory SMA while foot position is correctible. Townsend et al [37] recommended use of AFO's and knee ankle foot orthoses (KAFO) to ensure joints are aligned and prevent valgus forces at the knees in supported standing.…”