Revised upper limb module for spinal muscular atrophy: 12 month changes

被引：89

作者：

Pera, Maria Carmela ^{[1
,2
,3
]}

Coratti, Giorgia ^{[1
,2
,3
]}

Mazzone, Elena S. ^{[1
,2
,3
]}

Montes, Jacqueline ^{[4
,5
,6
]}

Scoto, Mariacristina ^{[7
,8
,9
]}

De Sanctis, Roberto ^{[1
,2
,3
]}

Main, Marion ^{[7
,8
,9
]}

Mayhew, Anna ^{[10
]}

Lofra, Robert Muni ^{[10
]}

Young, Sally Dunaway ^{[4
,5
,6
]}

Glanzman, Allan M. ^{[11
]}

Duong, Tina ^{[12
]}

Pasternak, Amy ^{[13
,14
]}

Ramsey, Danielle ^{[7
,8
,9
]}

Darras, Basil ^{[13
]}

Day, John W. ^{[12
]}

Finkel, Richard S. ^{[15
]}

De Vivo, Darryl C. ^{[6
]}

Sormani, Maria Pia ^{[16
]}

Bovis, Francesca ^{[16
]}

Straub, Volker ^{[10
]}

Muntoni, Francesco ^{[7
,8
,9
]}

Pane, Marika ^{[1
,2
,3
]}

Mercuri, Eugenio ^{[1
,2
,3
]}

Bettolo, Chiara Marini

Civitiello, Matthew

Mirek, Elizabeth

Salazar, Rachel

Forcina, Nicola

Norcia, Giulia

Carnicella, Sara

Antonaci, Laura

机构：

[1] Catholic Univ, Paediat Neurol, Largo Gemelli 8, I-00168 Rome, Italy

[2] Catholic Univ, Ctr Clin Nemo, Rome, Italy

[3] Fdn Policlin Univ Agostino Gemelli IRCSS, Policlin Gemelli, Rome, Italy

[4] Columbia Univ, Med Ctr, Dept Rehabil Med, New York, NY USA

[5] Columbia Univ, Med Ctr, Dept Regenerat Med, New York, NY USA

[6] Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA

[7] Dubowitz Neuromuscular Ctr, London, England

[8] Inst Child Hlth, NIHR Great Ormond St Hosp Biomed Res Ctr, London, England

[9] Great Ormond St Hosp Sick Children, London, England

[10] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England

[11] Childrens Hosp Philadelphia, Dept Phys Therapy, Philadelphia, PA 19104 USA

[12] Stanford Univ, Dept Neurol, Stanford, CA 94305 USA

[13] Harvard Med Sch, Dept Neurol, Boston Childrens Hosp, Boston, MA 02115 USA

[14] Boston Childrens Hosp, Dept Phys Therapy & Occupat Therapy, Boston, MA USA

[15] Univ Cent Florida, Nemours Childrens Hosp, Coll Med, Orlando, FL 32816 USA

[16] Univ Genoa, Sect Biostat, Dept Hlth Sci DISSAL, Genoa, Italy

来源：

MUSCLE & NERVE | 2019年 / 59卷 / 04期

关键词：

Spinal Muscular Atrophy; Outcome measures; Neuromuscular disorders; Upper limb; Functional assessment; Longitudinal Data; CLINICAL-TRIAL; TYPE-2;

D O I：

10.1002/mus.26419

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: The aim of the study was to assess 12 month changes in upper limb function in patients affected by spinal muscular atrophy type 2 and 3. Methods: Longitudinal 12 month data was collected in 114 patients, 60 type 2 and 54 type 3, using the Revised Upper Limb Module. Results: The 12 month changes ranged between -7 and 9 (mean: -0.41; SD: 2.93). The mean changes were not significantly different between the three spinal muscular atrophy groups (-0.45 in type 2, -0.23 in non-ambulant type 3 and -0.34 in ambulant type 3, p = 0.96) and the relationship between 12 month change and age classes was not significantly different among the three types of SMA patients. Discussion: Our results confirm that the Module explores a wide range of functional abilities and can be used in ambulant and non-ambulant patients of different ages in conjunction with other functional scales. Muscle Nerve 59:426-430, 2019

引用

页码：426 / 430

页数：5

共 13 条

[1] CLINICAL-TRIAL IN DUCHENNE DYSTROPHY .1. THE DESIGN OF THE PROTOCOL [J].

BROOKE, MH ;

GRIGGS, RC ;

MENDELL, JR ;

FENICHEL, GM ;

SHUMATE, JB ;

PELLEGRINO, RJ .

MUSCLE & NERVE, 1981, 4 (03) :186-197

[2] 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands [J].

Finkel, Richard ;

Bertini, Enrico ;

Muntoni, Francesco ;

Mercuri, Eugenio .

NEUROMUSCULAR DISORDERS, 2015, 25 (07) :593-602

[3] 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016 [J].

Finkel, Richard S. ;

Sejersen, Thomas ;

Mercuri, Eugenio .

NEUROMUSCULAR DISORDERS, 2017, 27 (06) :596-605

[4] Individualized Prediction of Changes in 6-Minute Walk Distance for Patients with Duchenne Muscular Dystrophy [J].

Goemans, Nathalie ;

vanden Hauwe, Marleen ;

Signorovitch, James ;

Swallow, Elyse ;

Song, Jinlin .

PLOS ONE, 2016, 11 (10)

[5] Prospective cohort study of spinal muscular atrophy types 2 and 3 [J].

Kaufmann, Petra ;

McDermott, Michael P. ;

Darras, Basil T. ;

Finkel, Richard S. ;

Sproule, Douglas M. ;

Kang, Peter B. ;

Oskoui, Maryam ;

Constantinescu, Andrei ;

Gooch, Clifton L. ;

Foley, A. Reghan ;

Yang, Michele L. ;

Tawil, Rabi ;

Chung, Wendy K. ;

Martens, William B. ;

Montes, Jacqueline ;

Battista, Vanessa ;

O'Hagen, Jessica ;

Dunaway, Sally ;

Flickinger, Jean ;

Quigley, Janet ;

Riley, Susan ;

Glanzman, Allan M. ;

Benton, Maryjane ;

Ryan, Patricia A. ;

Punyanitya, Mark ;

Montgomery, Megan J. ;

Marra, Jonathan ;

Koo, Benjamin ;

De Vivo, Darryl C. .

NEUROLOGY, 2012, 79 (18) :1889-1897

[6] Observational Study of Spinal Muscular Atrophy Type 2 and 3 Functional Outcomes Over 1 Year [J].

Kaufmann, Petra ;

McDermott, Michael P. ;

Darras, Basil T. ;

Finkel, Richard ;

Kang, Peter ;

Oskoui, Maryam ;

Constantinescu, Andrei ;

Sproule, Douglas Michael ;

Foley, Reghan ;

Yang, Michele ;

Tawil, Rabi ;

Chung, Wendy ;

Martens, Bill ;

Montes, Jacqueline ;

O'Hagen, Jessica ;

Dunaway, Sally ;

Flickinger, Jean M. ;

Quigley, Janet ;

Riley, Susan ;

Glanzman, Allan M. ;

Benton, Maryjane ;

Ryan, Patricia A. ;

Irvine, Carrie ;

Annis, Christine L. ;

Butler, Hailly ;

Caracciolo, Jayson ;

Montgomery, Megan ;

Marra, Jonathan ;

Koo, Benjamin ;

De Vivo, Darryl C. .

ARCHIVES OF NEUROLOGY, 2011, 68 (06) :779-786

[7] Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy [J].

Mayhew, Anna ;

Mazzone, Elena S. ;

Eagle, Michelle ;

Duong, Tina ;

Ash, Maria ;

Decostre, Valerie ;

Vandenhauwe, Marlene ;

Klingels, Katrijn ;

Florence, Julaine ;

Main, Marion ;

Bianco, Flaviana ;

Henrikson, Erik ;

Servais, Laurent ;

Campion, Giles ;

Vroom, Elizabeth ;

Ricotti, Valeria ;

Goemans, Natalie ;

Mcdonald, Craig ;

Mercuri, Eugenio .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2013, 55 (11) :1038-1045

[8] Assessing upper limb function in nonambulant SMA patients: Development of a new module [J].

Mazzone, Elena ;

Bianco, Flaviana ;

Martinelli, Diego ;

Glanzman, Allan M. ;

Messina, Sonia ;

De Sanctis, Roberto ;

Main, Marion ;

Eagle, Michelle ;

Florence, Julaine ;

Krosschell, Kristin ;

Vasco, Gessica ;

Pelliccioni, Marco ;

Lombardo, Marilena ;

Pane, Marika ;

Finkel, Richard ;

Muntoni, Francesco ;

Bertini, Enrico ;

Mercuri, Eugenio .

NEUROMUSCULAR DISORDERS, 2011, 21 (06) :406-412

[9] REVISED UPPER LIMB MODULE FOR SPINAL MUSCULAR ATROPHY: DEVELOPMENT OF A NEW MODULE [J].

Mazzone, Elena S. ;

Mayhew, Anna ;

Montes, Jacqueline ;

Ramsey, Danielle ;

Fanelli, Lavinia ;

Young, Sally Dunaway ;

Salazar, Rachel ;

De Sanctis, Roberto ;

Pasternak, Amy ;

Glanzman, Allan ;

Coratti, Giorgia ;

Civitello, Matthew ;

Forcina, Nicola ;

Gee, Richard ;

Tina Duong ;

Pane, Marika ;

Scoto, Mariacristina ;

Pera, Maria Carmela ;

Messina, Sonia ;

Tennekoon, Gihan ;

Day, John W. ;

Darras, Basil T. ;

De Vivo, Darryl C. ;

Finkel, Richard ;

Muntoni, Francesco ;

Mercuri, Eugenio .

MUSCLE & NERVE, 2017, 55 (06) :869-874

[10] Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy [J].

Mercuri, E. ;

Darras, B. T. ;

Chiriboga, C. A. ;

Day, J. W. ;

Campbell, C. ;

Connolly, A. M. ;

Iannaccone, S. T. ;

Kirschner, J. ;

Kuntz, N. L. ;

Saito, K. ;

Shieh, P. B. ;

Tulinius, M. ;

Mazzone, E. S. ;

Montes, J. ;

Bishop, K. M. ;

Yang, Q. ;

Foster, R. ;

Gheuens, S. ;

Bennett, C. F. ;

Farwell, W. ;

Schneider, E. ;

De Vivo, D. C. ;

Finkel, R. S. ;

Bradley, Walter G. ;

Kaufmann, Petra ;

Dickson, Patricia I. ;

Reingold, Stephen C. ;

Davis, Charles S. ;

Arredondo, Kristen ;

Castro, Diana ;

Cowie, Margaret ;

Farrow-Gillespie, Alan ;

Hebert, Andrew ;

Kauk, Melissa ;

Miller, Nancy ;

Nelson, Leslie ;

Spain, Thomas, Jr. ;

Cappell, Joshua ;

Constantinescu, Andrei ;

Cruz, Rosangel ;

Dastgir, Jahannaz ;

De Vivo, Darryl ;

Dunaway, Sally ;

Engelstad, Kristin ;

Khandji, Alexander G. ;

Kramer, Samantha ;

Marra, Jonathan ;

Popolizio, Molly ;

Salazar, Rachel ;

Weimer, Louis H. .

NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (07) :625-635

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