Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Coratti Giorgia, Carmela Pera Maria, Montes Jacqueline, Scoto Mariacristina, Pasternak Amy, Bovis Francesca, Sframeli Maria, D'Amico Adele, Pane Marika, Albamonte Emilio, Antonaci Laura, Lia Frongia Anna, Mizzoni Irene, Sansone Valeria A, Russo Massimo, Bruno Claudio, Baranello Giovanni, Messina Sonia, Dunaway Young Sally, Glanzman Allan M, Duong Tina, de Sanctis Roberto, Stacy Mazzone Elena, Milev Evelin, Rohwer Annemarie, Civitello Matthew, Darras Basil T, Bertini Enrico, Day John, Muntoni Francesco, De Vivo Darryl C, Finkel Richard S, Mercuri Eugenio
Аннотация
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.