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Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS

Lookup NU author(s): Dr Tim Rapley, Emerita Professor Helen Foster



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Background: Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints. We aimed to identify MSK abnormalities in children with MPS performing pGALS.Methods: Videos of children with a spectrum of MPS performing pGALS were analysed. A piloted proforma to record abnormalities for each pGALS manoeuvre observed in the videos (scored as normal/abnormal/not assessable) was used by three observers blinded to MPS subtype. Videos were scored independently and rescored for intra- and inter-observer consistency. Data were pooled and analysed.Results: Eighteen videos of children [12 boys, 6 girls, median age 11 years (4-19)] with MPS (13 type I [5 Hurler, 8 attenuated type I]; 4 type II; 1 mannosidosis) were assessed. The most common abnormalities detected using pGALS were restrictions of the shoulder, elbow, wrist, jaw (>75% cases), and fingers (2/3 cases). Mean intra-observer. 0.74 (range 0.65-0.88) and inter-observer. 0.62 (range 0.51-0.77). Hip manoeuvres were not clearly demonstrated in the videos.Conclusions: In this observational study, pGALS identifies MSK abnormalities in children with MPS. Restricted joint movement (especially upper limb) was a consistent finding. Future work includes pGALS assessment of the hip and testing pGALS in further children with attenuated MPS type I. The use of pGALS and awareness of patterns of joint involvement may be a useful adjunct to facilitate earlier recognition of these rare conditions and ultimately access to specialist care.

Publication metadata

Author(s): Chan MO, Sen ES, Hardy E, Hensman P, Wraith E, Jones S, Rapley T, Foster HE

Publication type: Article

Publication status: Published

Journal: Pediatric Rheumatology

Year: 2014

Volume: 12

Print publication date: 01/08/2014

Online publication date: 01/08/2014

Acceptance date: 27/07/2014

Date deposited: 21/10/2014

ISSN (electronic): 1546-0096

Publisher: BioMed Central


DOI: 10.1186/1546-0096-12-32


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