Coratti, G;
Pera, MC;
Lucibello, S;
Montes, J;
Pasternak, A;
Mayhew, A;
Glanzman, AM;
... Mercuri, E; + view all
(2020)
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Neuromuscular Disorders
, 30
(9)
pp. 756-764.
10.1016/j.nmd.2020.07.005.
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Abstract
The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE) assessments at 12 month- and 305 at 24 month- intervals. The cohort was subdivided by functional level, Survival of Motor Neuron copy number and age. Stable scores (± 2 points) were found in 68% at 12 months and in 55% at 24 months. A decrease ≥2 points was found in 21% at 12 months and in 35% at 24 months. An increase ≥2 points was found in 11% at 12 months and 9.5% at 24 months. The risk of losing ≥2 points increased with age and HFMSE score at baseline both at 12 and 24-month. For each additional HFMSE point at baseline, the relative risk of a >2 point decline at 12 months increases by 5% before age 5 years (p = 0.023), by 8% between 5 and 13 (p<0.001) and by 26% after 13 years (p = 0.003). The combination of age and HFMSE scores at baseline increased the ability to predict progression in type 2 SMA.
| Type: | Article |
|---|---|
| Title: | Age and baseline values predict 12 and 24-month functional changes in type 2 SMA |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2020.07.005 |
| Publisher version: | https://doi.org/10.1016/j.nmd.2020.07.005 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | Spinal muscular atrophy, Outcome measures, Hammersmith functional motor scale expanded, Neuromuscular disorders |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10112464 |
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