Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
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 functio...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/4/746 |
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| author | Claudia Brogna Marika Pane Giorgia Coratti Adele D’Amico Elena Pegoraro Luca Bello Valeria Ada Maria Sansone Emilio Albamonte Sonia Messina Antonella Pini Maria Grazia D’Angelo Claudio Bruno Tiziana Mongini Federica Silvia Ricci Angela Berardinelli Roberta Battini Riccardo Masson Enrico Silvio Bertini Luisa Politano Eugenio Mercuri Italian DMD Group |
| author_facet | Claudia Brogna Marika Pane Giorgia Coratti Adele D’Amico Elena Pegoraro Luca Bello Valeria Ada Maria Sansone Emilio Albamonte Sonia Messina Antonella Pini Maria Grazia D’Angelo Claudio Bruno Tiziana Mongini Federica Silvia Ricci Angela Berardinelli Roberta Battini Riccardo Masson Enrico Silvio Bertini Luisa Politano Eugenio Mercuri Italian DMD Group |
| author_sort | Claudia Brogna |
| collection | DOAJ |
| description | 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 (<i>p</i> < 0.001), the shoulder (<i>p</i> = 0.01) and the elbow domain (<i>p</i> < 0.001), with patients amenable to skipping exon 44 having smaller changes compared to those amenable to skipping exon 53. There was no difference within ambulant or non-ambulant cohorts when subdivided by exon skip class for the total and subdomains score (<i>p</i> > 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. |
| first_indexed | 2024-03-11T05:07:46Z |
| format | Article |
| id | doaj.art-267728c5a1714bfa8d43d5e99fddd56a |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-11T05:07:46Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-267728c5a1714bfa8d43d5e99fddd56a2023-11-17T18:47:07ZengMDPI AGChildren2227-90672023-04-0110474610.3390/children10040746Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month StudyClaudia Brogna0Marika Pane1Giorgia Coratti2Adele D’Amico3Elena Pegoraro4Luca Bello5Valeria Ada Maria Sansone6Emilio Albamonte7Sonia Messina8Antonella Pini9Maria Grazia D’Angelo10Claudio Bruno11Tiziana Mongini12Federica Silvia Ricci13Angela Berardinelli14Roberta Battini15Riccardo Masson16Enrico Silvio Bertini17Luisa Politano18Eugenio Mercuri19Italian DMD GroupPediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyCentro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, ItalyUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Neurosciences, University of Padua, 35128 Padua, ItalyDepartment of Neurosciences, University of Padua, 35128 Padua, ItalyThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, ItalyThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, ItalyDepartment of Clinical and Experimental Medicine, University of Messina, 98122 Messina, ItalyNeuromuscular Pediatric Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, ItalyNeuroMuscular Unit IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, ItalyCenter 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, ItalyNeuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, 10100 Turin, ItalyNeuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, 10100 Turin, ItalyNational Neurological Institute C. Mondino Foundation, IRCCS, 27100 Pavia, ItalyDepartment of Developmental Neuroscience, IRCCS Stella Maris, 56018 Pisa, ItalyDevelopmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyCardiomiology and Medical Genetics, Department of Experimental Medicine, Università della Campania Luigi Vanvitelli, 80138 Naples, ItalyPediatric Neurology, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyIntroduction: 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 (<i>p</i> < 0.001), the shoulder (<i>p</i> = 0.01) and the elbow domain (<i>p</i> < 0.001), with patients amenable to skipping exon 44 having smaller changes compared to those amenable to skipping exon 53. There was no difference within ambulant or non-ambulant cohorts when subdivided by exon skip class for the total and subdomains score (<i>p</i> > 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.https://www.mdpi.com/2227-9067/10/4/746DMDPUL 2.0exon skipping |
| spellingShingle | Claudia Brogna Marika Pane Giorgia Coratti Adele D’Amico Elena Pegoraro Luca Bello Valeria Ada Maria Sansone Emilio Albamonte Sonia Messina Antonella Pini Maria Grazia D’Angelo Claudio Bruno Tiziana Mongini Federica Silvia Ricci Angela Berardinelli Roberta Battini Riccardo Masson Enrico Silvio Bertini Luisa Politano Eugenio Mercuri Italian DMD Group Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study Children DMD PUL 2.0 exon skipping |
| title | Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
| title_full | Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
| title_fullStr | Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
| title_full_unstemmed | Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
| title_short | Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
| title_sort | upper limb changes in dmd patients amenable to skipping exons 44 45 51 and 53 a 24 month study |
| topic | DMD PUL 2.0 exon skipping |
| url | https://www.mdpi.com/2227-9067/10/4/746 |
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