title: Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS.
abstract: 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.
authors.affiliation: Paediatric 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.
authors.forename: Mercedes O
authors.initials: MO
authors.lastname: Chan
authors.affiliation: Paediatric Rheumatology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne NHS Hospitals Foundation Trust, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
authors.forename: Ethan S
authors.initials: ES
authors.lastname: Sen
authors.affiliation: Paediatric Rheumatology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne NHS Hospitals Foundation Trust, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hardy
authors.affiliation: Willink Biochemicals Genetics Unit, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
authors.forename: Pauline
authors.initials: P
authors.lastname: Hensman
authors.affiliation: Willink Biochemicals Genetics Unit, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
authors.forename: Edmond
authors.initials: E
authors.lastname: Wraith
authors.affiliation: Willink Biochemicals Genetics Unit, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Jones
authors.affiliation: Institute of Health and Society, Newcastle University, Baddiley Clark Building, Richardson Road, Newcastle upon Tyne NE2 4AX, UK.
authors.forename: Tim
authors.initials: T
authors.lastname: Rapley
authors.affiliation: Paediatric Rheumatology, Institute of Cellular Medicine, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne NE2 4HH, UK ; Paediatric Rheumatology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne NHS Hospitals Foundation Trust, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
authors.forename: Helen E
authors.initials: HE
authors.lastname: Foster
mesh_terms: D000293:Adolescent; D001132:Arm / Q000002:abnormalities* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D005260:Female; D005684:Gait / Q000502:physiology*; D006801:Humans; D007596:Joints / Q000002:abnormalities / Q000503:physiopathology; D007866:Leg / Q000002:abnormalities* / Q000503:physiopathology; D008297:Male; D008059:Mucopolysaccharidosis I / Q000150:complications*; D016532:Mucopolysaccharidosis II / Q000150:complications*; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000209:etiology* / Q000503:physiopathology; D015588:Observer Variation; D010808:Physical Examination / Q000379:methods*; D015203:Reproducibility of Results; D014743:Videotape Recording; D055815:Young Adult
keywords: Metabolic disease; Mucopolysaccharidoses; Musculoskeletal examination; pGALS
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