Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS

Abstract

BackgroundChildren 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.MethodsVideos 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.ResultsEighteen 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.ConclusionsIn 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.

Noninflammatory disorders mimic juvenile idiopathic arthritis

“…The proper history and physical examination should help in recognizing these cases. MPS should be considered a differential diagnosis in children with joint contractures in the absence of signs of inflammation [23]. Furthermore, certain radiographic findings, such as characteristic dysplasia and dysostosis multiplex, should raise suspicion of MPS (Fig.…”

A few challenges in mucopolysaccharidosis type I

“…It has a very good sensitivity to detect abnormalities. [25][26][27] The assessment will include gait, opening and closing hands, prayer sign, shoulder rotation and abduction, hips, cervical and thoracolumbar spine, temporomandibular joint, and checking if the subject can put 3 fingers inside their mouth.…”

Algunos desafíos en mucopolisacaridosis tipo I

“…Tiene excelente sensibilidad para detectar anormalidades. [25][26][27] El examen incluirá la marcha, abrir y cerrar de manos, posición de rezo, rotación y abducción de hombros, caderas, columna cervical y dorsolumbar, articulación temporomaxilar y ver si entran 3 dedos en la boca. Dos de cada tres pacientes con MPS I con compromiso articular presentan restricción de los dedos, que puede observarse ya a los 8-10 meses.…”