Revised upper limb module for spinal muscular atrophy: Development of a new module
Elena S. Mazzone PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorAnna Mayhew PT
Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorJacqueline Montes PT
Department of Neurology, Columbia University Medical Center, New York, USA
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorDanielle Ramsey PT
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Search for more papers by this authorLavinia Fanelli PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorSally Dunaway Young PT
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRachel Salazar PT
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRoberto De Sanctis PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorAmy Pasternak PT
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for more papers by this authorAllan Glanzman PT
Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Search for more papers by this authorGiorgia Coratti PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorMatthew Civitello PT
Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA
Search for more papers by this authorNicola Forcina PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorRichard Gee PT
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorTina Duong PT
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorMarika Pane MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorMariacristina Scoto MD
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Search for more papers by this authorMaria Carmela Pera MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorSonia Messina MD
Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Italy
Search for more papers by this authorGihan Tennekoon MD
Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Search for more papers by this authorJohn W. Day MD
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorBasil T. Darras MD
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for more papers by this authorDarryl C. De Vivo MD
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRichard Finkel MD
Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Search for more papers by this authorFrancesco Muntoni MD
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Search for more papers by this authorCorresponding Author
Eugenio Mercuri MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Correspondence to: E. Mercuri; e-mail: [email protected]Search for more papers by this authorElena S. Mazzone PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorAnna Mayhew PT
Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorJacqueline Montes PT
Department of Neurology, Columbia University Medical Center, New York, USA
Authors Mazzone, Mayhew, and Montes, contributed equally to this work.
Search for more papers by this authorDanielle Ramsey PT
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Search for more papers by this authorLavinia Fanelli PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorSally Dunaway Young PT
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRachel Salazar PT
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRoberto De Sanctis PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorAmy Pasternak PT
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for more papers by this authorAllan Glanzman PT
Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Search for more papers by this authorGiorgia Coratti PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorMatthew Civitello PT
Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA
Search for more papers by this authorNicola Forcina PT
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorRichard Gee PT
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorTina Duong PT
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorMarika Pane MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorMariacristina Scoto MD
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Search for more papers by this authorMaria Carmela Pera MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Search for more papers by this authorSonia Messina MD
Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Italy
Search for more papers by this authorGihan Tennekoon MD
Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Search for more papers by this authorJohn W. Day MD
Department of Neurology, Stanford University, Stanford, California, USA
Search for more papers by this authorBasil T. Darras MD
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for more papers by this authorDarryl C. De Vivo MD
Department of Neurology, Columbia University Medical Center, New York, USA
Search for more papers by this authorRichard Finkel MD
Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Search for more papers by this authorFrancesco Muntoni MD
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Search for more papers by this authorCorresponding Author
Eugenio Mercuri MD
Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168 Rome, Italy
Drs. Finke, Muntoni, and Mercuri are all senior authors.
Correspondence to: E. Mercuri; e-mail: [email protected]Search for more papers by this authorFunding: Funding from the SMA Foundation to the PNCR network, from the SMA TRUST to the Dubowitz Neuromuscular Centre (D.R., M.S., and F.M.) for the SMA REACH UK Network, and from the Italian Telethon and Famiglie SMA to the Italian SMA network is gratefully acknolwedged. F.M. also wishes to acknowledge the funding of the Muscular Dystrophy UK Centre grant; of the Medical Research Council Neuromuscular Centre; and the support of the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.
ABSTRACT
Introduction
There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at the extremes of the clinical spectrum. We report the development of the Revised Upper Limb Module (RULM), an assessment specifically designed for upper limb function in SMA patients.
Methods
An international panel with specific neuromuscular expertise performed a thorough review of scales currently available to assess upper limb function in SMA. This review facilitated a revision of the existing upper limb function scales to make a more robust clinical scale.
Results
Multiple revisions of the scale included statistical analysis and captured clinically relevant changes to fulfill requirements by regulators and advocacy groups.
Conclusions
The resulting RULM scale shows good reliability and validity, making it a suitable tool to assess upper extremity function in the SMA population for multi-center clinical research. Muscle Nerve 55: 869–874, 2017
Supporting Information
Additional supporting information may be found in the online version of this article.
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