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dc.contributor.authorStimpson, Georgia
dc.contributor.authorRaquq, Sarah
dc.contributor.authorChesshyre, Mary
dc.contributor.authorFewtrell, Mary
dc.contributor.authorRidout, Deborah
dc.contributor.authorSarkozy, Anna
dc.contributor.authorManzur, Adnan
dc.contributor.authorAyyar Gupta, Vandana
dc.contributor.authorDe Amicis, Ramona
dc.contributor.authorMuntoni, Francesco
dc.contributor.authorBaranello, Giovanni
dc.contributor.authorNorthStar Network
dc.date.accessioned2022-01-28T16:44:53Z
dc.date.available2022-01-28T16:44:53Z
dc.date.issued2022-01-24
dc.date.submitted2021-10-04
dc.identifier.issn1750-1172
dc.identifier.others13023-021-02158-9
dc.identifier.other2158
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/333292
dc.description.abstractOBJECTIVES: The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD). BACKGROUND: We considered glucocorticoids (GC) use, dystrophin isoforms and amenability to exon 8, 44, 45, 51 and 53 skipping drug subgroups, and the impact of growth on loss of ambulation. We analysed 598 boys, with 2604 observations. This analysis considered patients from the UK NorthStar database (2003-2020) on one of five regimes: "GC naïve", "deflazacort daily" (DD), "deflazacort intermittent" (DI), "prednisolone daily" (PD) and "prednisolone intermittent" (PI). A random slope model was used to model the weight, height and BMI SD scores (using the UK90). RESULTS: The daily regime subgroups had significant yearly height stunting compared to the GC naïve subgroup. Notably, the average height change for the DD subgroup was 0.25 SD (95% CI - 0.30, - 0.21) less than reference values. Those with affected expression of Dp427, Dp140 and Dp71 isoforms were 0.77 (95% CI 0.3, 1.24) and 0.82 (95% CI 1.28, 0.36) SD shorter than those with Dp427 and/or Dp140 expression affected respectively. Increased weight was not associated with earlier loss of ambulation, but taller boys still ambulant between the age of 10 and 11 years were more at risk of losing ambulation. CONCLUSION: These findings may provide further guidance to clinicians when counselling and discussing GCs commencement with patients and their carers and may represent a benchmark set of data to evaluate the effects of new generations of GC.
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.subjectResearch
dc.subjectPediatric neuromuscular diseases
dc.subjectDuchenne muscular dystrophy
dc.subjectGrowth
dc.subjectIsoforms
dc.subjectGlucocorticoids
dc.subjectPrednisolone
dc.subjectDeflazacort
dc.titleGrowth pattern trajectories in boys with Duchenne muscular dystrophy.
dc.typeArticle
dc.date.updated2022-01-28T16:44:52Z
prism.issueIdentifier1
prism.publicationNameOrphanet J Rare Dis
prism.volume17
dc.identifier.doi10.17863/CAM.80715
dcterms.dateAccepted2021-12-19
rioxxterms.versionofrecord10.1186/s13023-021-02158-9
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidBaranello, Giovanni [0000-0003-4871-6692]
dc.identifier.eissn1750-1172
pubs.funder-project-idMuscular Dystrophy UK (16NMDB-DB60-0004-5)
cam.issuedOnline2022-01-24


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