Maria Carmela Pera1, Giorgia Coratti1, Elena S Mazzone1, Jacqueline Montes2,3, Mariacristina Scoto4, Roberto De Sanctis1, Marion Main4, Anna Mayhew5, Robert Muni Lofra5, Sally Dunaway Young2,3, Allan M Glanzman6, Tina Duong7, Amy Pasternak8,9, Danielle Ramsey4, Basil Darras8, John W Day7, Richard S Finkel10, Darryl C De Vivo3, Maria Pia Sormani11, Francesca Bovis11, Volker Straub5, Francesco Muntoni4, Marika Pane1, Eugenio Mercuri1. 1. Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy. 2. Departments of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, USA. 3. Departments of Neurology, Columbia University Medical Center, New York, USA. 4. Dubowitz Neuromuscular Centre and NIHR Great Ormond Street Hospital Biomedical Research Centre, Institute of Child Health & Great Ormond Street Hospital, London, UK. 5. John Walton Muscular Dystrophy Research Centre, Newcastle University, UK. 6. Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia. 7. Department of Neurology, Stanford University, Stanford, California, USA. 8. Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 9. Department of Physical Therapy and Occupational Therapy, Boston Children's Hospital, Boston, MA, USA. 10. Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA. 11. Department of Health Sciences (DISSAL), Section of Biostatistics, University of Genova, Genova, Italy.
Abstract
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.
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.
Authors: Tina Duong; Connie Wolford; Michael P McDermott; Chelsea E Macpherson; Amy Pasternak; Allan M Glanzman; William B Martens; Elizabeth Kichula; Basil T Darras; Darryl C De Vivo; Zarazuela Zolkipli-Cunningham; Richard S Finkel; Michael Zeineh; Max Wintermark; Jacinda Sampson; Katharine A Hagerman; Sally Dunaway Young; John W Day Journal: Neurol Clin Pract Date: 2021-06
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Authors: Giorgia Coratti; Maria Carmela Pera; Jacqueline Montes; Amy Pasternak; Mariacristina Scoto; Giovanni Baranello; Sonia Messina; Sally Dunaway Young; Allan M Glanzman; Tina Duong; Roberto De Sanctis; Elena Stacy Mazzone; Evelin Milev; Annemarie Rohwer; Matthew Civitello; Marika Pane; Laura Antonaci; Anna Lia Frongia; Maria Sframeli; Gian Luca Vita; Adele DʼAmico; Irene Mizzoni; Emilio Albamonte; Basil T Darras; Enrico Bertini; Valeria A Sansone; Francesca Bovis; John Day; Claudio Bruno; Francesco Muntoni; Darryl C De Vivo; Richard Finkel; Eugenio Mercuri Journal: Muscle Nerve Date: 2021-08-09 Impact factor: 3.852
Authors: Hamish W Y Wan; Kate A Carey; Arlene D'Silva; Steve Vucic; Matthew C Kiernan; Nadine A Kasparian; Michelle A Farrar Journal: Orphanet J Rare Dis Date: 2020-03-12 Impact factor: 4.123
Authors: Maria Carmela Pera; Giorgia Coratti; Francesca Bovis; Marika Pane; Amy Pasternak; Jacqueline Montes; Valeria A Sansone; Sally Dunaway Young; Tina Duong; Sonia Messina; Irene Mizzoni; Adele D'Amico; Matthew Civitello; Allan M Glanzman; Claudio Bruno; Francesca Salmin; Simone Morando; Roberto De Sanctis; Maria Sframeli; Laura Antonaci; Anna Lia Frongia; Annemarie Rohwer; Mariacristina Scoto; Darryl C De Vivo; Basil T Darras; John Day; William Martens; Katia A Patanella; Enrico Bertini; Francesco Muntoni; Richard Finkel; Eugenio Mercuri Journal: Ann Clin Transl Neurol Date: 2021-06-24 Impact factor: 4.511