TY - JOUR
T1 - Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
AU - Coratti, Giorgia
AU - Pera, Maria Carmela
AU - Lucibello, Simona
AU - Montes, Jacqueline
AU - Pasternak, Amy
AU - Mayhew, Anna
AU - Glanzman, Allan M
AU - Young, Sally Dunaway
AU - Pane, Marika
AU - Scoto, Mariacristina
AU - Messina, Sonia
AU - Goemans, Nathalie
AU - Osorio, Andres Nascimiento
AU - Pedemonte, Marina
AU - Sansone, Valeria
AU - Bertini, Enrico
AU - De Vivo, Darryl C.
AU - Finkel, Richard
AU - Muntoni, Francesco
AU - Mercuri, Eugenio Maria
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Hammersmith functional motor scale expanded
KW - Neuromuscular disorders
KW - Outcome measures
KW - Spinal muscular atrophy
KW - Hammersmith functional motor scale expanded
KW - Neuromuscular disorders
KW - Outcome measures
KW - Spinal muscular atrophy
UR - http://hdl.handle.net/10807/182748
U2 - 10.1016/j.nmd.2020.07.005
DO - 10.1016/j.nmd.2020.07.005
M3 - Article
SN - 0960-8966
VL - 30
SP - 756
EP - 764
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -