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Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database
Elise L Townsend1, Sarah D Simeone, Kristin J Krosschell
1Department of Physical Therapy (Dr Townsend), School of Health and Rehabilitation Sciences, MGH Institute of Health Professions, Boston, Massachusetts; Center for Genomic Medicine and Department of Neurology (Drs Townsend, Simeone, and Swoboda and Mr Zhang), Massachusetts General Hospital, Boston, Massachusetts; Department of Physical Therapy and Human Movement Sciences and Department of Pediatrics (Dr Krosschell), Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
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.
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