Abstract
Prechtl's General Movements Assessment (GMA) was originally developed to assist in early identification of infants with cerebral palsy by using gestalt visual analysis to evaluate infants' spontaneous movements. Little is understood about the types of general movements (GMs) expressed in infants with neuromuscular disorders, or whether these infants have detectable movement abnormalities within the first weeks of life. We seek to describe the expression of GMs in infants from birth to 6 months of age with diagnosis of neuromuscular disease. Fourteen infants with an established neuromuscular diagnosis (e.g., spinal muscular atrophy [SMA], N=7; Duchenne muscular dystrophy [DMD], N=3; and others, N=4) have been enrolled, to date. The GMs of each infant were recorded for up to 4 minutes in supine using standardized procedures. Blinded assessors used global GMA categorizations and detailed GMA scoring forms to evaluate the variability and complexity of the infants' movements and determine normal vs aberrant movement patterns. Two subjects (SMA, N=1; DMD, N=1) have >1 recording over time. Of the 17 total videos collected, 14 were able to be scored by the GMA. Four (29%) were evaluated as having normal movement patterns; of those, 2 were post-treatment SMA. A sub-cohort of infants were evaluated with the Neuromuscular Gross Motor Outcome (GRO) and Bayley-4 gross motor subtest as clinical standard of care. Interestingly, there was a moderate correlation between motor performance on GRO and GMA detailed scoring (rho=0.79; p=0.01), however, Bayley-4 scaled scores do not seem to differentiate between healthy and aberrant movements. Further exploration into the influence of disease-modifying treatments on the expression of GMs will be presented. While a limitation of this analysis was the small sample size, preliminary results suggest that many infants with neuromuscular disease express movement abnormalities from birth.
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