Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS.

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.

Traumatic brain injuries in early childhood: initial impact on the family.

OBJECTIVE: The purpose of this study was to examine factors that affect parental burden and distress during the first few months following a traumatic brain injury (TBI) in young children. METHODS: Participants were consecutively enrolled children ages 3 through 6 years with either a TBI (n = 89; 21 severe, 22 moderate, and 45 complicated mild) or orthopedic injury (OI; n = 119) requiring hospitalization. During the post-acute period, parents provided information regarding the preinjury family environment and current caregiver functioning and injury-related burden. RESULTS: Compared with parents of young children with OI, parents of children with TBI reported greater overall caregiver burden and greater burden related to the injury. Parents of children with severe TBI also reported more stress with spouses and siblings and higher levels of parental depression and global distress relative to the OI comparison group. Parents of 5- to 6-year-old children reported significantly higher levels of both injury-related burden and distress than parents of 3- to 4-year-old children. Parents of children with mild TBI based on the Glasgow Coma Scale (GCS) who also had positive neuroimaging findings reported greater injury-related burden than parents of children with moderate TBI. Parents reported using a variety of coping strategies, with higher levels of denial and disengagement corresponding with greater injury-related burden and distress. CONCLUSIONS: Consistent with previous research on family adaptation to TBI in school-age children, chronic life stresses and interpersonal resources accounted for significant variance in measures of acute injury-related burden and parental distress in parents of younger children, although differences were small. TBI severity defined by GCS scores alone may not be sufficient to identify families at risk of increased burden. Findings suggest that services aimed at facilitating family adjustment following TBI in young children may need to consider a broader definition of risk factors when identifying families who would benefit from interventions.