Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.

Autor: Coratti G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Pane M; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Brogna C; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy., Bello L; Department of Neurosciences, University of Padua, Padua, Italy., Sansone VA; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Albamonte E; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Ferraroli E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Mazzone ES; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Fanelli L; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cicala G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Capasso A; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Ricci M; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Frosini S; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy., De Luca G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rolle E; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., De Sanctis R; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Forcina N; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Norcia G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Passamano L; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Scutifero M; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Gardani A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, Pavia, Italy., Pini A; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy., Monaco G; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy., D'Angelo MG; NeuroMuscular Unit, IRCCS Eugenio Medea, Bosisio Parini, Italy., Leone D; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Zanin R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Vita GL; Unit of Neurology, IRCCS Centro Neurolesi Bonino-Pulejo - P.O. Piemonte, Messina, Italy., Panicucci C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini IRCCS, University of Genova, Genova, Italy., Bruno C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini IRCCS, University of Genova, Genova, Italy., Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., Berardinelli A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, Pavia, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Italy., Masson R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Baranello G; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Dosi C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nigro V; Department of Precision Medicine, Luigi Vanvitelli and Telethon Institute of Genetics and Medicine, University of Campania, Italy., Politano L; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Mercuri E; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 75-82. Date of Electronic Publication: 2023 Dec 03.
DOI: 10.1016/j.nmd.2023.11.011
Abstrakt: Duchenne muscular dystrophy (DMD) is a neuromuscular condition characterized by muscle weakness. The Performance of upper limb (PUL) test is designed to evaluate upper limb function in DMD patients across three domains. The aim of this study is to identify frequently lost or gained PUL 2.0 abilities at distinct functional stages in DMD patients. This retrospective study analyzed prospectively collected data on 24-month PUL 2.0 changes related to ambulatory function. Ambulant patients were categorized based on initial 6MWT distance, non-ambulant patients by time since ambulation loss. Each PUL 2.0 item was classified as shift up, no change, or shift down. The study's cohort incuded 274 patients, with 626 paired evaluations at the 24-month mark. Among these, 55.1 % had activity loss, while 29.1 % had gains. Ambulant patients showed the lowest loss rates, mainly in the shoulder domain. The highest loss rate was in the shoulder domain in the transitioning subgroup and in elbow and distal domains in the non-ambulant patients. Younger ambulant patients demonstrated multiple gains, whereas in the other functional subgroups there were fewer gains, mostly tied to singular activities. Our findings highlight divergent upper limb domain progression, partly linked to functional status and baseline function.
Competing Interests: Declaration of Competing Interest The authors have nothing to disclose related to the submitted paper.
(Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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