TY - JOUR
T1 - Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
AU - Coratti, Giorgia
AU - Carmela Pera, Maria
AU - Montes, Jacqueline
AU - Scoto, Mariacristina
AU - Pasternak, Amy
AU - Bovis, Francesca
AU - Sframeli, Maria
AU - D'Amico, Adele
AU - Pane, Marika
AU - Albamonte, Emilio
AU - Antonaci, Laura
AU - Lia Frongia, Anna
AU - Mizzoni, Irene
AU - Sansone, Valeria A
AU - Russo, Massimo
AU - Bruno, Claudio
AU - Baranello, Giovanni
AU - Messina, Sonia
AU - Dunaway Young, Sally
AU - Glanzman, Allan M
AU - Duong, Tina
AU - De Sanctis, Roberto
AU - Stacy Mazzone, Elena
AU - Milev, Evelin
AU - Rohwer, Annemarie
AU - Civitello, Matthew
AU - Darras, Basil T
AU - Bertini, Enrico
AU - Bertini, Enrico Silvio
AU - Day, John
AU - Muntoni, Francesco
AU - De Vivo, Darryl C.
AU - Finkel, Richard S
AU - Mercuri, Eugenio Maria
PY - 2022
Y1 - 2022
N2 - The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.
AB - The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.
KW - Natural history
KW - Neuromuscular disorders
KW - Outcome measures
KW - Revised upper limb module
KW - Spinal muscular atrophy
KW - Natural history
KW - Neuromuscular disorders
KW - Outcome measures
KW - Revised upper limb module
KW - Spinal muscular atrophy
UR - http://hdl.handle.net/10807/197869
U2 - 10.1016/j.nmd.2021.10.009
DO - 10.1016/j.nmd.2021.10.009
M3 - Article
SN - 0960-8966
SP - N/A-N/A
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -