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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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