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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136754/ https://www.ncbi.nlm.nih.gov/pubmed/37189996 http://dx.doi.org/10.3390/children10040746 |
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author | Brogna, Claudia Pane, Marika Coratti, Giorgia D’Amico, Adele Pegoraro, Elena Bello, Luca Sansone, Valeria Ada Maria Albamonte, Emilio Messina, Sonia Pini, Antonella D’Angelo, Maria Grazia Bruno, Claudio Mongini, Tiziana Ricci, Federica Silvia Berardinelli, Angela Battini, Roberta Masson, Riccardo Bertini, Enrico Silvio Politano, Luisa Mercuri, Eugenio |
author_facet | Brogna, Claudia Pane, Marika Coratti, Giorgia D’Amico, Adele Pegoraro, Elena Bello, Luca Sansone, Valeria Ada Maria Albamonte, Emilio Messina, Sonia Pini, Antonella D’Angelo, Maria Grazia Bruno, Claudio Mongini, Tiziana Ricci, Federica Silvia Berardinelli, Angela Battini, Roberta Masson, Riccardo Bertini, Enrico Silvio Politano, Luisa Mercuri, Eugenio |
author_sort | Brogna, Claudia |
collection | PubMed |
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 (p < 0.001), the shoulder (p = 0.01) and the elbow domain (p < 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 (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. |
format | Online Article Text |
id | pubmed-10136754 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101367542023-04-28 Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study Brogna, Claudia Pane, Marika Coratti, Giorgia D’Amico, Adele Pegoraro, Elena Bello, Luca Sansone, Valeria Ada Maria Albamonte, Emilio Messina, Sonia Pini, Antonella D’Angelo, Maria Grazia Bruno, Claudio Mongini, Tiziana Ricci, Federica Silvia Berardinelli, Angela Battini, Roberta Masson, Riccardo Bertini, Enrico Silvio Politano, Luisa Mercuri, Eugenio Children (Basel) Article 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 < 0.001), the shoulder (p = 0.01) and the elbow domain (p < 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 (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. MDPI 2023-04-19 /pmc/articles/PMC10136754/ /pubmed/37189996 http://dx.doi.org/10.3390/children10040746 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Brogna, Claudia Pane, Marika Coratti, Giorgia D’Amico, Adele Pegoraro, Elena Bello, Luca Sansone, Valeria Ada Maria Albamonte, Emilio Messina, Sonia Pini, Antonella D’Angelo, Maria Grazia Bruno, Claudio Mongini, Tiziana Ricci, Federica Silvia Berardinelli, Angela Battini, Roberta Masson, Riccardo Bertini, Enrico Silvio Politano, Luisa Mercuri, Eugenio Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study |
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 | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136754/ https://www.ncbi.nlm.nih.gov/pubmed/37189996 http://dx.doi.org/10.3390/children10040746 |
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