Objective
To validate manual muscle testing (MMT) for strength assessment in juvenile and adult dermatomyositis (DM) and polymyositis (PM).
Methods
Patients with PM/DM (73 children and 45 adults) ...were assessed at baseline and reevaluated 6–9 months later. We compared Total MMT (a group of 24 proximal, distal, and axial muscles) and Proximal MMT (7 proximal muscle groups) tested bilaterally on a 0–10 scale with 144 subsets of 6 and 96 subsets of 8 muscle groups tested unilaterally. Expert consensus was used to rank the best abbreviated MMT subsets for face validity and ease of assessment.
Results
The Total, Proximal, and best MMT subsets had excellent internal reliability (Total MMT rs = 0.91–0.98), and consistency (Cronbach's α = 0.78–0.97). Inter‐ and intrarater reliability were acceptable (Kendall's W 0.68–0.76, rs = 0.84–0.95). MMT subset scores correlated highly with Total and Proximal MMT scores and with the Childhood Myositis Assessment Scale, and correlated moderately with physician global activity, functional disability, magnetic resonance imaging, and axial and distal MMT scores, and, in adults, with creatine kinase level. The standardized response mean for Total MMT was 0.56 in juveniles and 0.75 in adults. Consensus was reached to use a subset of 8 muscles (neck flexors, deltoids, biceps, wrist extensors, gluteus maximus and medius, quadriceps, and ankle dorsiflexors) that performed as well as the Total and Proximal MMT, and had good face validity and ease of assessment.
Conclusion
These findings aid in standardizing the use of MMT for assessing strength as an outcome measure for myositis.
To create guidelines focused on the use of structured physical activity (PA) in the management of juvenile idiopathic arthritis (JIA).
A systematic literature search was conducted using the ...electronic databases Cochrane Central Register of Controlled Trials, MEDLINE (Ovid), EMBASE (Ovid), and Physiotherapy Evidence Database for all studies related to PA programs for JIA from January 1966 until December 2014, and was updated in May 2015.
Study selection was completed independently by 2 reviewers. Studies were included if they involved individuals aged ≤21 years diagnosed with JIA who were taking part in therapeutic exercise or other PA interventions for which effects of various disease-related outcomes were compared with a control group (eg, no PA program or activity of lower intensity).
Two reviewers independently extracted information on interventions, comparators, outcomes, time period, and study design. The statistical analysis was reported using the Cochrane Collaboration methods. The quality of the included studies was assessed according to the Physiotherapy Evidence Database Scale.
Five randomized controlled trials (RCTs) fit the selection criteria; of these, 4 were high-quality RCTs. The following recommendations were developed: (1) Pilates for improving quality of life, pain, functional ability, and range of motion (ROM) (grade A); (2) home exercise program for improving quality of life and functional ability (grade A); (3) aquatic aerobic fitness for decreasing the number of active joints (grade A); and (4) and cardio-karate aerobic exercise for improving ROM and number of active joints (grade C+).
The Ottawa Panel recommends the following structured exercises and physical activities for the management of JIA: Pilates, cardio-karate, home and aquatic exercises. Pilates showed improvement in a higher number of outcomes.
MCTO is a rare disorder, caused by mutations in the MafB gene, a negative regulator of receptor activator of nuclear factor-кB ligand (RANKL). Manifestations include carpal and tarsal osteolysis and ...renal failure. Pathophysiology is poorly understood, and no effective treatment is available.
In this case report we describe a patient with MCTO (MafB, mutation c.206C>T, p.Ser69Leu), diagnosed at the age of 5 years. At 7 years, skeletal survey showed diffuse osteopenia. BMD was mildly reduced, and bone turnover markers increased. He was treated with denosumab, a human monoclonal RANKL inhibitor for two years. Each injection was followed by a marked reduction in C-telopeptide (CTX). Following denosumab his BMD and bone symptoms improved and the osteolysis stabilized. At the age of 13 years, osteoporosis was diagnosed using high resolution peripheral quantitative computed tomography (HRpQCT) and serum RANKL was found to be markedly increased.
This initial experience suggests that the associated osteoporosis may be ameliorated by denosumab, although further study will be needed to understand the appropriate dose, frequency, and the extent of efficacy. Monitoring of CTX and bone specific alkaline phosphatase will be especially useful in this regard. Further study in other MCTO patients is also needed to determine whether high bone turnover is specific to this mutation or more common than previously appreciated. We propose a model in which osteolysis in this condition is strongly associated with the systemic osteoporosis.
•MCTO (MafB gene mutation (c.206C>T,p.Ser69Leu) is associated with osteoporosis and very high levels of serum RANKL.•Denosumab appears to ameliorate the osteoporosis. Further study is needed regarding the dose and frequency of injections.•Examination of the frequency of osteoporosis and association with osteolysis is needed in MCTO
A significant proportion of patients with juvenile spondyloarthritis (JSpA) are refractory to treatment with established medications. The objective of this study was to assess long-term efficacy of ...treatment with anti-TNF agents in patients with JSpA.
An observational study of 16 patients with JSpA from 3 centres treated with infliximab (n=10) and etanercept (n=6) was performed, with a median follow-up period of 7.2 years. Prospective data was collected according to a standardized protocol. Outcomes examined were TEC, TAJC, markers of inflammation (ESR, CRP), functional assessments (C-HAQ, BASDAI, BASFI), and ongoing requirement for anti-TNF treatment.
13/16 patients (83%) had achieved clinical remission 6 months into the treatment. Improvement was sustained over time, with a median TAJC and TEC of 0 at any time point after 6 weeks. 6/16 patients (38%) showed a flare of arthritis after a median of 3.5 years. Two patients with hip disease prior to treatment required an arthroplasty 3 and 8 years post anti-TNF initiation. Patients showed progression of sacroiliitis with median modified New York score of 1 (range 0-3) at time of diagnosis and 3 (range 0-4) at last follow-up (p=0.002). Median BASDAI at last follow up was 1.6, median BASFI 3.1. Two patients developed transient reactions (one generalised, one local); no patient developed other adverse effects during the study.
Anti-TNF treatment in JSpA refractory to standard treatment results in good long-term disease control except for pre-existing hip disease. However, radiographic evidence suggests inferior efficacy for control of sacroiliac joint disease.
Abstract
Background:MCTO is a rare disorder, caused by mutations in the MABF gene, a negative regulator of RANKL. Manifestations include carpal tarsal osteolysis and subsequent renal failure in some. ...Pathophysiology is poorly understood, and no effective treatment is available. Clinical case:A 5y old boy presented (2011) with R wrist pain and diffuse swelling. MRI showed pan-carpal synovitis with joint effusion. He did not respond to different anti-inflammatory medications. Plain films showed central loss of the proximal row of carpal bones. His mother was followed as an adolescent with presumed juvenile rheumatoid arthritis. Genetic testing confirmed MAFB gene mutation (c.206C>T,p.Ser69Leu) in both patient and mother.At 7y, skeletal survey showed diffuse osteopenia and mild height loss in T1. DXA (L1-4) Z-score was -0.7. Calcium phosphate metabolism indices were within reference ranges. Bone Specific Alk Pi was modestly increased and C-telopeptide markedly increased.He received Denosumab (0.5-0.75 mg/Kg) 4-monthly for two years and experienced less pain and increased daily activities with improved R wrist function. Osteolysis stabilized and none was noted in the L wrist or ankles. BMD Z-score was -0.2. A year following treatment (2016) he received two more injections of Denosumab following pain and movement restriction of R elbow, R knee and L ankle. In 2019 (13y) he fell and radiology showed, R knee osteopenia, R wrist almost complete destruction of the carpal bones. Neither ankle nor L wrist showed osteolysis. R upper limb musculature was wasted when compared with the left. Shoulder and elbow strength were preserved. BMD Z-score was -1.2. Serum calcium, 25(OH)Vitamin D and PTH were normal. Bone specific alkaline phosphatase and C-Telopeptide were elevated. Serum creatinine was normal, eGFR 150 ml/min/1.73m2, ACR (6.6 normal< 3.5 mg/mmol)) with no hypercalciuria or nephrocalcinosis. He was normotensive.High resolution peripheral quantitative computerized tomography (HRpQCT) of the L distal radius and distal tibia compared with 7 age-matched healthy males showed reduced total volumetric BMD (186.4;198.2-306.4), normal trabecular volumetric BMD and markedly reduced cortical volumetric BMD (320.4;636.5-792.5). Cortical thickness was below the expected range. HRpQCT measurements of the R wrist and tibia were similar. sRANKL, 6 weeks after Denosumab were markedly increased in both undiluted (35.4 pmol/L) and averaged diluted samples (83.73 pmol/L) when compared with healthy age-matched children (0.21-0.41pmol/L).
Conclusions/Clinical Lessons:MCTO (MAFB, mutation c.206C>T,p.Ser69Leu), has a generalized high turnover skeletal phenotype (osteoporosis), likely driven by very high levels of sRANKL. Denosumab is a targeted treatment for the osteoporosis, which may help stabilize the osteolysis.
Background/Purpose:
Juvenile‐onset Spondyloarthritis (JSpA), referred to as Enthesitis‐Related Arthritis (ERA) subtype under the International League of Associations for Rheumatology (ILAR) ...classification is characterized by arthritis and enthesitis largely affecting the lower limbs. Axial involvement is uncommon at presentation, but may develop in the second decade of life. Although there are validated instruments assessing spinal disease in adults with Ankylosing Spondylitis (AS) such as the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI), there are no validated tools to measure disease activity or functional impairment in this population of children. While we have previously reported excellent intra‐reliability of the BASDAI and BASFI, the aims of the current study were to measure the validity and responsiveness of these two adult scores in JSpA.
Methods:
Patients diagnosed with ERA (ILAR criteria) followed in the JSpA Clinic at The Hospital for Sick Children (June 2009–June 2010) were enrolled into the study. The BASDAI and BASFI were measured prospectively at baseline and again at 4 to 6 months. At each study visit, joint and entheseal clinical exams were performed. CHAQ and Physical Global of Disease Activity scores were recorded. The data collected at baseline and the follow up visit were used to assess construct validity and were expressed using Pearson's correlation coefficient. Responsiveness (sensitivity to change) was calculated in a subgroup of patients who showed changes in joint and entheseal counts over time by dividing the mean change between the two assessments by the standard deviation of the change scores and was expressed as the standardized response mean.
Results:
There were 38 patients (87% male) with a mean age at diagnosis of 12.1 ± 2.5 years and average age at enrollment of 14.5 ± 2.5 years. Average disease duration at the time of the study was 5.4 ± 1.8 years. 45% were HLA B27 positive with 18% had a family history of Spondyloarthritis. 71% had a history of clinical SI involvement. The average time between baseline and follow up clinic visits was 4.6 ± 2.3 months. Correlations between both the BASDAI and the BASFI and active joint counts were found to be high (r > 0.6) while correlations with sites of enthesitis were found to be low to moderate (r = 0.2 – 0.5). Responsiveness was greatest for the BASDAI and BASFI for detecting worsening arthritis (1.18 and 1.11, respectively). Correlations between the two instruments and CHAQ and Physical Global of Disease Activity scores were highly correlated at both time points.
Conclusion:
The current study demonstrates that the BASDAI and the BASFI show good construct validity and responsiveness and may be used in the evaluation of disease activity and functional impairment in children with JSpA. Correlations were higher for both measures in arthritis than in enthesitis, and sensitivity to changes over time was best for detecting worsening arthritis. The results of this study illustrate that these two instruments validated in adults may become an objective addition to developing Paediatric JSpA core sets.
The primary purpose of this study was to determine if it was possible to improve the responsiveness of the Childhood Health Assessment Questionnaire (CHAQ) through the application of alternative ...scoring strategies, while maintaining its validity. Sub-study A explored the responsiveness of the traditional CHAQ relative to three alternative CHAQ (ACHAQ) scoring methods in a retrospective cohort of children with JRA following intra-articular steroid injections. Sub-study B examined the concurrent validity of the CHAQ/ACHAQ's in a prospective cohort of children with JRA. Sub-study C examined the relationship between the ACHAQ's and the age of a retrospective cohort of children. Responsiveness was improved with the application of ACHAQ scoring strategies, however, concurrent validity was sacrificed. No specific age effects were identified, although some important issues regarding the age appropriateness of items were identified. The use of the alternative CHAQ scoring methods over the traditional does not appear justified at this time.
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