Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. (14th February 2022)

• Record Type: Journal Article
• Authors: Zambon, Alberto A.; Ayyar Gupta, Vandana; Ridout, Deborah; Manzur, Adnan Y.; Baranello, Giovanni; Trucco, Federica; Muntoni, Francesco
• Other Names: Tirupath Sandya investigator.; Douglas Melanie investigator.; McFetridge Jaci investigator.; Parasuraman Deepak investigator.; Alhaswani Zoya investigator.; McMurchie Heather investigator.; Rabb Rosanna investigator.; Majumdar Anirban investigator.; Vijayakumar Kayal investigator.; Amin Sam investigator.; Mason Faye investigator.; Frimpong‐Ansah Claire investigator.; Gibbon Frances investigator.; Parson Bethan investigator.; Naismith Karen investigator.; Burslem Julie investigator.; Baxter Alex investigator.; Eadie Clare investigator.; Horrocks Iain investigator.; Di Marco Marina investigator.; Childs Anne‐Marie investigator.; Pallant Lindsey investigator.; Spinty Stefan investigator.; Shillington Alison investigator.; Gregson Sarah investigator.; Cheshman Laura investigator.; Wraige Elizabeth investigator.; Gowda Vasantha investigator.; Jungbluth Heinz investigator.; Sheehan Jennie investigator.; Hughes Imelda investigator.; Warner Sinead investigator.; Straub Volker investigator.; Guglieri Michela investigator.; Mayhew Anna investigator.; Chow Gabby investigator.; Williamson Sarah investigator.; Willis Tracey investigator.; Kulshrestha Richa investigator.; Emery Nicholas investigator.; Ramdas Sithara investigator.; Ramjattan Hayley investigator.; de Goede Christian investigator.; Selley Andrea investigator.; Ong Min investigator.; White Kay investigator.; Illingworth Marjorie investigator.; Geary Michelle investigator.; Palmer Jenni investigator.; White Cathy investigator.; Greenfield Kate investigator.; Hewawitharana Gemunu investigator.; Julien Yvonne investigator.; Stephens Elma investigator.; Tewnion Jane investigator.; Ambegaonkar Gautam investigator.; Krishnakumar Deepa investigator.; Taylor Jacqui investigator.; Ward Catherine investigator.; Willis Tracey investigator.; Wright Elizabeth investigator.; Rylance Claire investigator.;
• Is Part Of: Developmental medicine & child neurology. Volume 64:Number 8(2022)
• Page Start: 979
• Page End: 988
• Publication Date: 2022-02-14
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.15176
• Languages: English
• ISSNs: 0012-1622

Abstract

Abstract : Aim: To correlate the North Star Ambulatory Assessment (NSAA) and timed rise from floor (TRF) recorded at age of expected peak with age at loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD). Method: Male children with DMD enrolled in the UK North Start Network database were included according to the following criteria: follow‐up longer than 3 years, one NSAA record between 6 years and 7 years 6 months (baseline), at least one visit when older than 8 years. Data about corticosteroid treatment, LOA, genotype, NSAA, and TRF were analysed. Age at LOA among the different groups based on NSAA and TRF was determined by log‐rank tests. Cox proportional hazard models were used for multivariable analysis. Results: A total of 293 patients from 13 different centres were included. Mean (SD) age at first and last visit was 5 years 6 months (1 year 2 months) and 12 years 8 months (2 years 11 months) (median follow‐up 7 years 4 months). Higher NSAA and lower TRF at baseline were associated with older age at LOA ( p <0.001). Patients scoring NSAA 32 to 34 had a probability of 0.61 of being ambulant when older than 13 years compared with 0.34 for those scoring 26 to 31. In multivariable analysis, NSAA, TRF, and corticosteroid daily regimen (vs intermittent) were all independently associated with outcome ( p =0.01). Interpretation: Higher functional abilities at peak are associated with older age at LOA in DMD. This information is important for counselling families. These baseline measures should also be considered when designing clinical trials. Abstract : In Duchenne muscular dystrophy, we lack data linking early motor abilities to loss of ambulation (LOA). In this study, we investigated the relationship between two functional scores (i.e. North Star Ambulatory Assessment [NSAA] and Timed Rise from Floor [TRF]) recorded at the time of expected peak and LOA. Both higher NSAA scores and lower TRF were associated with later age at LOA. This information is important for counselling families and should also be considered when designing clinical trials.