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Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

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. Green open access

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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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