Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Giorgia Coratti; Maria Carmela Pera; Jacqueline Montes; Mariacristina Scoto; Amy Pasternak; Francesca Bovis; Maria Sframeli; Adele D'Amico; Marika Pane; Emilio Albamonte; Laura Antonaci; Anna Lia Frongia; Irene Mizzoni; Valeria A Sansone; Massimo Russo; Claudio Bruno; Giovanni Baranello; Sonia Messina; Sally Dunaway Young; Allan M Glanzman; Tina Duong; Roberto De Sanctis; Elena Stacy Mazzone; Evelin Milev; Annemarie Rohwer; Matthew Civitello; Basil T Darras; Enrico Bertini; Enrico Silvio Bertini; John Day; Francesco Muntoni; Darryl C. De Vivo; Richard S Finkel; Eugenio Maria Mercuri

doi:10.1016/j.nmd.2021.10.009

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Mariacristina Scoto, Amy Pasternak, Francesca Bovis, Maria Sframeli, Adele D'Amico, Marika Pane, Emilio Albamonte, Laura Antonaci, Anna Lia Frongia, Irene Mizzoni, Valeria A Sansone, Massimo Russo, Claudio Bruno, Giovanni Baranello, Sonia Messina, Sally Dunaway Young, Allan M GlanzmanTina Duong, Roberto De Sanctis, Elena Stacy Mazzone, Evelin Milev, Annemarie Rohwer, Matthew Civitello, Basil T Darras, Enrico Bertini, Enrico Silvio Bertini, John Day, Francesco Muntoni, Darryl C. De Vivo, Richard S Finkel, Eugenio Maria Mercuri

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

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.

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	Neuromuscular Disorders
DOI	https://doi.org/10.1016/j.nmd.2021.10.009
Stato di pubblicazione	Pubblicato - 2022

Keywords

Natural history
Neuromuscular disorders
Outcome measures
Revised upper limb module
Spinal muscular atrophy

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10.1016/j.nmd.2021.10.009

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Coratti, G., Pera, M. C., 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., ... Mercuri, E. M. (2022). Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscular Disorders, N/A-N/A. https://doi.org/10.1016/j.nmd.2021.10.009

@article{df4d13da309945bf8c4bd9d93860ba0d,

title = "Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes",

abstract = "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.",

keywords = "Natural history, Neuromuscular disorders, Outcome measures, Revised upper limb module, Spinal muscular atrophy, Natural history, Neuromuscular disorders, Outcome measures, Revised upper limb module, Spinal muscular atrophy",

author = "Giorgia Coratti and Pera, {Maria Carmela} and Jacqueline Montes and Mariacristina Scoto and Amy Pasternak and Francesca Bovis and Maria Sframeli and Adele D'Amico and Marika Pane and Emilio Albamonte and Laura Antonaci and {Lia Frongia}, Anna and Irene Mizzoni and Sansone, {Valeria A} and Massimo Russo and Claudio Bruno and Giovanni Baranello and Sonia Messina and {Dunaway Young}, Sally and Glanzman, {Allan M} and Tina Duong and {De Sanctis}, Roberto and {Stacy Mazzone}, Elena and Evelin Milev and Annemarie Rohwer and Matthew Civitello and Darras, {Basil T} and Enrico Bertini and Bertini, {Enrico Silvio} and John Day and Francesco Muntoni and {De Vivo}, {Darryl C.} and Finkel, {Richard S} and Mercuri, {Eugenio Maria}",

year = "2022",

doi = "10.1016/j.nmd.2021.10.009",

language = "English",

pages = "N/A--N/A",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010",

}

Coratti, G, Pera, MC, 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, VA, Russo, M, Bruno, C, Baranello, G, Messina, S, Dunaway Young, S, Glanzman, AM, Duong, T, De Sanctis, R, Stacy Mazzone, E, Milev, E, Rohwer, A, Civitello, M, Darras, BT, Bertini, E, Bertini, ES, Day, J, Muntoni, F, De Vivo, DC, Finkel, RS & Mercuri, EM 2022, 'Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes', Neuromuscular Disorders, pagg. N/A-N/A. https://doi.org/10.1016/j.nmd.2021.10.009

TY - JOUR

T1 - Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

AU - Coratti, Giorgia

AU - Pera, Maria Carmela

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 -

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Abstract

Keywords

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