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Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS
Mercedes O Chan1, Ethan S Sen2, Elizabeth Hardy2
1Paediatric Rheumatology, Institute of Cellular Medicine, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne NE2 4HH, UK ; Division of Paediatric Rheumatology, Department of Paediatrics, BC Children's Hospital and the University of British Columbia, K4-119 Ambulatory Care Building, 4480 Oak Street, Vancouver BC V6H 3V4, Canada.
Insights
The Paediatric Gait, Arms, Legs, and Spine (pGALS) assessment effectively identifies musculoskeletal abnormalities in children with mucopolysaccharidoses (MPS). Restricted upper limb movement was a common finding, aiding early recognition of these rare conditions.
Area of Science:
- Pediatric Rheumatology
- Rare Diseases
- Skeletal Dysplasias
Background:
- Mucopolysaccharidoses (MPS) are rare genetic disorders often causing significant musculoskeletal (MSK) abnormalities in children.
- Early identification of MSK issues in MPS is crucial for timely intervention and management.
- The Paediatric Gait, Arms, Legs, and Spine (pGALS) is a validated tool for assessing MSK health in children.
Purpose of the Study:
- To evaluate the utility of the pGALS assessment in identifying specific MSK abnormalities in children diagnosed with various types of MPS.
- To determine the pattern and prevalence of joint involvement in pediatric MPS patients using pGALS.
Main Methods:
- Analysis of video recordings of children with MPS performing the pGALS assessment.
- Utilized a piloted proforma for scoring joint movements (normal/abnormal/not assessable) by three independent, blinded observers.
- Assessed intra- and inter-observer reliability using Kappa statistics.
Main Results:
- Eighteen children with MPS (types I, II, and Mannosidosis) were included; 13 had MPS type I.
- pGALS revealed common abnormalities including restricted shoulder, elbow, wrist, and jaw movements (over 75% of cases).
- Good intra-observer (κ=0.74) and moderate inter-observer (κ=0.62) reliability were achieved; hip assessments were limited by video quality.
Conclusions:
- The pGALS assessment is a valuable tool for detecting MSK abnormalities in children with MPS.
- Restricted joint mobility, particularly in the upper limbs, is a consistent finding in pediatric MPS.
- Further studies should focus on hip assessment and evaluating pGALS in broader MPS populations to enhance early diagnosis and specialist care access.
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 Κ 0.74 (range 0.65-0.88) and inter-observer Κ 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.
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