Limits...
Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS.

Chan MO, Sen ES, Hardy E, Hensman P, Wraith E, Jones S, Rapley T, Foster HE - Pediatr Rheumatol Online J (2014)

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

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.

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.

Show MeSH

Related in: MedlinePlus

Suggested Revisions (highlighted yellow with asterisk*) to Existing Algorithm for Evaluation of Joint Contractures in Children. Adapted from Cimaz et al. [17].
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4126068&req=5

Figure 1: Suggested Revisions (highlighted yellow with asterisk*) to Existing Algorithm for Evaluation of Joint Contractures in Children. Adapted from Cimaz et al. [17].

Mentions: The pGALS examination was originally developed in the context of paediatric rheumatology clinics but has been shown to be useful to detect pathology other than rheumatic disease in acute general paediatric assessment [14,15]. Furthermore pGALS has been shown to detect joint abnormalities that may not be apparent from history alone [16]. Our study suggests that pGALS may be a useful adjunct to facilitate earlier recognition of MPS and this is of clinical importance as a large number of children in this study had attenuated MPS type 1. Such patients often present with subtle contractures and delays in diagnosis [11,17]. Given the availability of ERT, this delay is concerning as early intervention is likely to improve the clinical outcomes for these children. It is increasingly important to develop strategies to facilitate early diagnosis and the algorithmic approach to evaluation of the child with joint contractures is welcome [17] [See Figure 1].


Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS.

Chan MO, Sen ES, Hardy E, Hensman P, Wraith E, Jones S, Rapley T, Foster HE - Pediatr Rheumatol Online J (2014)

Suggested Revisions (highlighted yellow with asterisk*) to Existing Algorithm for Evaluation of Joint Contractures in Children. Adapted from Cimaz et al. [17].
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4126068&req=5

Figure 1: Suggested Revisions (highlighted yellow with asterisk*) to Existing Algorithm for Evaluation of Joint Contractures in Children. Adapted from Cimaz et al. [17].
Mentions: The pGALS examination was originally developed in the context of paediatric rheumatology clinics but has been shown to be useful to detect pathology other than rheumatic disease in acute general paediatric assessment [14,15]. Furthermore pGALS has been shown to detect joint abnormalities that may not be apparent from history alone [16]. Our study suggests that pGALS may be a useful adjunct to facilitate earlier recognition of MPS and this is of clinical importance as a large number of children in this study had attenuated MPS type 1. Such patients often present with subtle contractures and delays in diagnosis [11,17]. Given the availability of ERT, this delay is concerning as early intervention is likely to improve the clinical outcomes for these children. It is increasingly important to develop strategies to facilitate early diagnosis and the algorithmic approach to evaluation of the child with joint contractures is welcome [17] [See Figure 1].

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

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.

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.

Show MeSH
Related in: MedlinePlus