Introduction: With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA). Methods: Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale-Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6-minute walk test as percent of predicted normal distance. A principal component analysis was performed on the correlation matrix for the 3 percentage scores. Results: The first principal component yielded a composite score with approximately equal weighting of the 3 components and accounted for 82% of the total variability. The SMA functional composite score, an unweighted average of the 3 individual percentage scores, correlated almost perfectly with the first principal component. Conclusions: This combination of measures broadens the spectrum of ability that can be quantified in type 2 and 3 SMA patients.

Montes, J., Glanzman, A. M., Mazzone, E. S., Martens, W. B., Dunaway, S., Pasternak, A., Riley, S. O., Quigley, J., Pandya, S., De Vivo, D. C., Kaufmann, P., Chiriboga, C. A., Finkel, R. S., Tennekoon, G. I., Darras, B. T., Pane, M., Mercuri, E. M., Mcdermott, M. P., Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy, <<MUSCLE & NERVE>>, 2015; 52 (6): 942-947. [doi:10.1002/mus.24670] [https://hdl.handle.net/10807/260285]

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy

Mazzone, Elena Stacy;Pane, Marika;Mercuri, Eugenio Maria;
2015

Abstract

Introduction: With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA). Methods: Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale-Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6-minute walk test as percent of predicted normal distance. A principal component analysis was performed on the correlation matrix for the 3 percentage scores. Results: The first principal component yielded a composite score with approximately equal weighting of the 3 components and accounted for 82% of the total variability. The SMA functional composite score, an unweighted average of the 3 individual percentage scores, correlated almost perfectly with the first principal component. Conclusions: This combination of measures broadens the spectrum of ability that can be quantified in type 2 and 3 SMA patients.
2015
Inglese
Montes, J., Glanzman, A. M., Mazzone, E. S., Martens, W. B., Dunaway, S., Pasternak, A., Riley, S. O., Quigley, J., Pandya, S., De Vivo, D. C., Kaufmann, P., Chiriboga, C. A., Finkel, R. S., Tennekoon, G. I., Darras, B. T., Pane, M., Mercuri, E. M., Mcdermott, M. P., Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy, <<MUSCLE & NERVE>>, 2015; 52 (6): 942-947. [doi:10.1002/mus.24670] [https://hdl.handle.net/10807/260285]
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