Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The stud...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2022-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0271681 |
| _version_ | 1828148776465858560 |
|---|---|
| author | Giorgia Coratti Jacopo Lenkowicz Giulia Norcia Simona Lucibello Elisabetta Ferraroli Adele d'Amico Luca Bello Elena Pegoraro Sonia Messina Federica Ricci Tiziana Mongini Angela Berardinelli Riccardo Masson Stefano C Previtali Grazia D'angelo Francesca Magri Giacomo P Comi Luisa Politano Luigia Passamano Gianluca Vita Valeria A Sansone Emilio Albamonte Chiara Panicucci Claudio Bruno Antonella Pini Enrico Bertini Stefano Patarnello Marika Pane Eugenio Mercuri italian DMD study group |
| author_facet | Giorgia Coratti Jacopo Lenkowicz Giulia Norcia Simona Lucibello Elisabetta Ferraroli Adele d'Amico Luca Bello Elena Pegoraro Sonia Messina Federica Ricci Tiziana Mongini Angela Berardinelli Riccardo Masson Stefano C Previtali Grazia D'angelo Francesca Magri Giacomo P Comi Luisa Politano Luigia Passamano Gianluca Vita Valeria A Sansone Emilio Albamonte Chiara Panicucci Claudio Bruno Antonella Pini Enrico Bertini Stefano Patarnello Marika Pane Eugenio Mercuri italian DMD study group |
| author_sort | Giorgia Coratti |
| collection | DOAJ |
| description | The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range. |
| first_indexed | 2024-04-11T21:20:31Z |
| format | Article |
| id | doaj.art-8e2cffe834b14cb78ac44c0e1498df76 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-11T21:20:31Z |
| publishDate | 2022-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-8e2cffe834b14cb78ac44c0e1498df762022-12-22T04:02:38ZengPublic Library of Science (PLoS)PLoS ONE1932-62032022-01-01177e027168110.1371/journal.pone.0271681Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.Giorgia CorattiJacopo LenkowiczGiulia NorciaSimona LucibelloElisabetta FerraroliAdele d'AmicoLuca BelloElena PegoraroSonia MessinaFederica RicciTiziana MonginiAngela BerardinelliRiccardo MassonStefano C PrevitaliGrazia D'angeloFrancesca MagriGiacomo P ComiLuisa PolitanoLuigia PassamanoGianluca VitaValeria A SansoneEmilio AlbamonteChiara PanicucciClaudio BrunoAntonella PiniEnrico BertiniStefano PatarnelloMarika PaneEugenio Mercuriitalian DMD study groupThe aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range.https://doi.org/10.1371/journal.pone.0271681 |
| spellingShingle | Giorgia Coratti Jacopo Lenkowicz Giulia Norcia Simona Lucibello Elisabetta Ferraroli Adele d'Amico Luca Bello Elena Pegoraro Sonia Messina Federica Ricci Tiziana Mongini Angela Berardinelli Riccardo Masson Stefano C Previtali Grazia D'angelo Francesca Magri Giacomo P Comi Luisa Politano Luigia Passamano Gianluca Vita Valeria A Sansone Emilio Albamonte Chiara Panicucci Claudio Bruno Antonella Pini Enrico Bertini Stefano Patarnello Marika Pane Eugenio Mercuri italian DMD study group Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. PLoS ONE |
| title | Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. |
| title_full | Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. |
| title_fullStr | Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. |
| title_full_unstemmed | Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. |
| title_short | Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. |
| title_sort | age corticosteroid treatment and site of mutations affect motor functional changes in young boys with duchenne muscular dystrophy |
| url | https://doi.org/10.1371/journal.pone.0271681 |
| work_keys_str_mv | AT giorgiacoratti agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT jacopolenkowicz agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT giulianorcia agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT simonalucibello agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT elisabettaferraroli agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT adeledamico agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT lucabello agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT elenapegoraro agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT soniamessina agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT federicaricci agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT tizianamongini agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT angelaberardinelli agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT riccardomasson agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT stefanocprevitali agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT graziadangelo agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT francescamagri agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT giacomopcomi agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT luisapolitano agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT luigiapassamano agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT gianlucavita agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT valeriaasansone agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT emilioalbamonte agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT chiarapanicucci agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT claudiobruno agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT antonellapini agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT enricobertini agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT stefanopatarnello agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT marikapane agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT eugeniomercuri agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy AT italiandmdstudygroup agecorticosteroidtreatmentandsiteofmutationsaffectmotorfunctionalchangesinyoungboyswithduchennemusculardystrophy |