Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy.

PURPOSE: To determine the criterion validity of the SET-ULM (Spatial Exploration Test of Upper Limb Mobility), a functional workspace test. MATERIALS AND METHODS: A prospective study from July 2017 to November 2018 in 30 children with SMA type 1 or 2. All children underwent assessment with the SET-ULM and the Motor Function Measure (MFM). RESULTS: We included 30 children. Median (Q1; Q3) MFM D1 (standing ability, ambulation and transfers), D2 (axial and proximal motor function), D3 (distal motor function) scores, Total MFM and Total SET-ULM active score were respectively 2.6% (2.6-3.8); 45.8% (19.9-65.3); 57.7% (36.9-80.9); 35.4% (16.7-43.2) and 70.2% (49.7-97.9). Total SET-ULM active score was strongly correlated with the MFM D2 dimension score (rho 0.82; p < 001), with the D3 dimension (rho 0.86; p < 0.001) and with the Total MFM score (rho 0.89; p < 0.005). Total SET-ULM active score differed between SMA types (p < 0.01). CONCLUSION: The SET-ULM has good criterion validity for the evaluation of available horizontal active upper limb workspace in children with SMA1 and SMA2. Future studies should evaluate reliability and sensitivity to change during a longitudinal follow-up study, as well as in a longitudinal trial of therapeutic effectiveness. CLINICAL TRIALS: NCT03223051IMPLICATIONS FOR REHABILITATIONThe Spatial Exploration Test for Upper Limb Mobility is a useful adjunct to the Motor Function Measure.It provides a precise evaluation of horizontal reaching ability.The Spatial Exploration Test for Upper Limb Mobility will be of great clinical utility for the evaluation of the effects of treatments for spinal muscular atrophy.

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

INTRODUCTION: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients. RESULTS: Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline. CONCLUSION: In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls.