Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
- Creators
- Coratti G.
- Carmela Pera M.
- Montes J.
- Scoto M.
- Pasternak A.
- Bovis F.
- Sframeli M.
- D'Amico A.
- Pane M.
- Albamonte E.
- Antonaci L.
- Lia Frongia A.
- Mizzoni I.
- Sansone V. A.
- Russo M.
- Bruno C.
- Baranello G.
- Messina S.
- Dunaway Young S.
- Glanzman A. M.
- Duong T.
- de Sanctis R.
- Stacy Mazzone E.
- Milev E.
- Rohwer A.
- Civitello M.
- Darras B. T.
- Bertini E.
- Day J.
- Muntoni F.
- De Vivo D. C.
- Finkel R. S.
- Mercuri E.
- Others:
- Coratti, G.
- Carmela Pera, M.
- Montes, J.
- Scoto, M.
- Pasternak, A.
- Bovis, F.
- Sframeli, M.
- D'Amico, A.
- Pane, M.
- Albamonte, E.
- Antonaci, L.
- Lia Frongia, A.
- Mizzoni, I.
- Sansone, V. A.
- Russo, M.
- Bruno, C.
- Baranello, G.
- Messina, S.
- Dunaway Young, S.
- Glanzman, A. M.
- Duong, T.
- de Sanctis, R.
- Stacy Mazzone, E.
- Milev, E.
- Rohwer, A.
- Civitello, M.
- Darras, B. T.
- Bertini, E.
- Day, J.
- Muntoni, F.
- De Vivo, D. C.
- Finkel, R. S.
- Mercuri, E.
Description
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.
Additional details
- URL
- http://hdl.handle.net/11567/1072482
- URN
- urn:oai:iris.unige.it:11567/1072482
- Origin repository
- UNIGE