Data di Pubblicazione:
2019
Citazione:
Longitudinal natural history in young boys with Duchenne muscular dystrophy / G. Coratti, C. Brogna, G. Norcia, V. Ricotti, L. Abbott, A. D'Amico, A. Berardinelli, G. Vita, S. Lucibello, S. Messina, V. Sansone, E. Albamonte, G. Colia, F. Salmin, A. Gardani, A. Manzur, M. Main, G. Baranello, M. Arnoldi, J. Parsons, T. Carry, A. Connolly, E. Bertini, F. Muntoni, M. Pane, E. Mercuri. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 29:11(2019 Nov), pp. 857-862. [10.1016/j.nmd.2019.09.010]
Abstract:
The aim of this prospective multicentric study was to document disease progression in young boys affected by Duchenne muscular dystrophy (DMD) between age 3 and 6 years (3 months) using the North Star Ambulatory Assessment scale. One hundred fifty-three DMD boys (573 assessments) younger than 6 years (mean: 4.68, SD: 0.84) with a genetically proven DMD diagnoses were included. Our results showed North Star Ambulatory Assessment scores progressively increased with age. The largest increase was observed between age 3 and 4 years but further increase was steadily observed until age of 6 years. Using a multiple linear regression analysis, we found that both the use of corticosteroids and the site of mutation significantly contributed to the North Star Ambulatory Assessment changes (p < 0.001). At each age point, boys on corticosteroid treatment had higher scores than corticosteroid naive ones (p < 0.001). Similarly, patients with mutations downstream exon 44, had lower baseline scores and lower magnitude of changes compared to those with mutations located at the 5' end of the gene (p < 0,001). Very few boys achieved the age appropriate maximum score. These results provide useful information for the assessment and counselling of young DMD boys and for the design of clinical trials in this age group.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
North Star Ambulatory Assessment; Duchenne Muscular dystrophy; Outcome measure; Neuromuscular disorders
Elenco autori:
G. Coratti, C. Brogna, G. Norcia, V. Ricotti, L. Abbott, A. D'Amico, A. Berardinelli, G. Vita, S. Lucibello, S. Messina, V. Sansone, E. Albamonte, G. Colia, F. Salmin, A. Gardani, A. Manzur, M. Main, G. Baranello, M. Arnoldi, J. Parsons, T. Carry, A. Connolly, E. Bertini, F. Muntoni, M. Pane, E. Mercuri
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