Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Elena Pegoraro
Department of Neurosciences, University of Padua, 35128 Padua, Italy
Luca Bello
Department of Neurosciences, University of Padua, 35128 Padua, Italy
Valeria Ada Maria Sansone
The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy
Emilio Albamonte
The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy
Sonia Messina
Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy
Antonella Pini
Neuromuscular Pediatric Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy
Maria Grazia D’Angelo
NeuroMuscular Unit IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy
Claudio Bruno
Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy
Tiziana Mongini
Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, 10100 Turin, Italy
Federica Silvia Ricci
Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, 10100 Turin, Italy
Angela Berardinelli
National Neurological Institute C. Mondino Foundation, IRCCS, 27100 Pavia, Italy
Roberta Battini
Department of Developmental Neuroscience, IRCCS Stella Maris, 56018 Pisa, Italy
Riccardo Masson
Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy
Enrico Silvio Bertini
Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Luisa Politano
Cardiomiology and Medical Genetics, Department of Experimental Medicine, Università della Campania Luigi Vanvitelli, 80138 Naples, Italy
Eugenio Mercuri
Pediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study was to evaluate changes in upper limb functions in patients carrying mutations amenable to skipping exons 44, 45, 51 and 53. Methods: All DMD patients were assessed using the PUL 2.0 for at least 2 years, focusing on 24-month paired visits in those with mutations eligible for skipping exons 44, 45, 51 and 53. Results: 285 paired assessments were available. The mean total PUL 2.0 12-month change was −0.67 (2.80), −1.15 (3.98), −1.46 (3.37) and −1.95 (4.04) in patients carrying mutations amenable to skipping exon 44, 45, 51 and 53, respectively. The mean total PUL 2.0 24-month change was −1.47 (3.73), −2.78 (5.86), −2.95 (4.56) and −4.53 (6.13) in patients amenable to skipping exon 44, 45, 51 and 53, respectively. The difference in PUL 2.0 mean changes among the type of exon skip class for the total score was not significant at 12 months but was significant at 24 months for the total score (p p = 0.01) and the elbow domain (p p > 0.05). Conclusions: Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients.
