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OBJECTIVE To evaluate changes in health-related quality of life (HRQoL) and disability in children with systemic juvenile idiopathic arthritis (JIA) or polyarticular JIA treated with tocilizumab. METHODS Secondary analyses of two double-blind, placebo-controlled trials of intravenous tocilizumab in children with active systemic JIA or polyarticular JIA were conducted. Patient-reported outcomes of disability (Childhood Health Assessment Questionnaire [C-HAQ]), HRQoL (Child Health Questionnaire Parent Form 50 [CHQ-P50], health concepts, physical summary score [CHQ-P50-PhS], psychosocial summary score [CHQ-P50-PsS]), pain, and well-being (100-mm visual analog scale [VAS]) were measured at weeks 0 and 12 for systemic JIA, weeks 16 and 40 for polyarticular JIA, and week 104 for both JIA subgroups. RESULTS The trial included 112 patients with systemic JIA and 188 patients with polyarticular JIA. In patients with polyarticular JIA, the mean ± SD C-HAQ score decreased from 1.39 ± 0.74 at baseline to 0.67 ± 0.65 at week 16 (P < 0.001). In patients with systemic JIA, the mean ± SD CHQ-P50-PhS improved more with tocilizumab therapy than with placebo at week 12 (7.3 ± 10.2 versus 2.4 ± 10.6) (P < 0.05). Almost all mean CHQ-P50 health concept scores, CHQ-P50-PsS, and CHQ-P50-PhS improved (P ≤ 0.002) by week 104 for patients with systemic JIA. Patients with polyarticular JIA and patients with systemic JIA showed significant reductions in disability (mean ± SD C-HAQ scores of -1.09 ± 0.71 and -1.17 ± 0.80, respectively), improvements in well-being (mean ± SD well-being VAS scores of -43.76 ± 26.61 and -51.53 ± 23.57, respectively), and decreases in pain (mean ± SD pain VAS scores of -41.56 ± 31.06 and -51.26 ± 26.79, respectively) (P < 0.001); in patients with polyarticular JIA and patients with systemic JIA who were treated with tocilizumab, 92.9% of polyarticular JIA patients and 96.8% of systemic JIA patients reported no more than minimal pain (a score of ≤35 mm on the VAS) at week 104. CONCLUSION Tocilizumab treatment was associated with significantly reduced disability and pain and improved HRQoL in patients with systemic JIA and polyarticular JIA.

Objectives The aim of this study is to investigate the effect of customized preformed foot orthoses on pain, quality of life, swollen and tender lower joints and foot and ankle disability in children with JIA. Methods Parallel group design. Children diagnosed with JIA were recruited from the three children’s hospitals in New South Wales, Australia. Participants were randomly assigned to a control group receiving a standard flat innersole (sham) with no corrective modifications. The trial group were prescribed a preformed device that was customized based on biomechanical assessments. Pain was the primary outcome and was followed up to 12 months post intervention. Secondary outcomes include quality of life, foot and ankle disability and swollen and tender joints. A linear mixed model was used to assess the impact of the intervention at each time point. Results Sixty-six participants were recruited. Child-reported pain was reduced statistically and clinically significant at 4 weeks and 3 months post intervention in favour of the trial group. Statistical significance was not reached at 6 and 12-month follow-ups. Quality of life and foot and ankle disability were not statistically significant at any follow-up; however, tender midfoot and ankle joints were significantly reduced 6 months post intervention. Conclusion Results of this clinical trial indicate customized preformed foot orthoses can be effective in reducing pain and tender joints in children with JIA exhibiting foot and ankle symptoms. Long-term efficacy of foot orthoses remains unclear. Overall, the trial intervention was safe, inexpensive and well tolerated by paediatric patients. Trial registration Australian New Zealand Clinical Trials Registry (ANZCTR): 12616001082493.

Children with juvenile idiopathic arthritis (JIA) can experience significant physical impairment of the lower extremity. Prolonged joint disease and symptoms may cause gait alterations such as reduced walking speed and increased plantar pressures in diseased areas of their feet. There is limited robust clinical trials investigating the effect of non-invasive mechanical therapies such as foot orthoses (FOs) on improving gait parameters in children with JIA.Are customised preformed FOs effective in improving gait parameters in children with JIA?A multicentre, parallel design, single-blinded randomised clinical trial was used to assess the gait impacts of customised preformed FOs on children with JIA. Children with a diagnosis of JIA, exhibiting lower limb symptoms and aged 5-18 were eligible. The trial group received a low-density full length, Slimflex Simple device which was customised chair side and the control group received a sham device. Peak pressure and pressure time integrals were used as the main gait outcomes and were measured using portable Tekscan gait analysis technology at baseline, 3 and 6 months. Differences at each follow-up were assessed using the Wilcoxon rank sum test.66 participants were recruited. Customised preformed FOs were effective in altering plantar pressures in children with JIA versus a control device. Reductions of peak pressures and pressure time integrals in the heel, forefoot and 5th metatarsophalangeal joint were statistically significant in favour of the trial group. This was associated with statistically significant increased midfoot contact with the trial device at baseline, 3 and 6-month data collections. The trial intervention was safe and well accepted by participants, which is reflected in the high retention rate (92%).Clinicians may prescribe customised preformed FOs in children with JIA to deflect pressure from painful joints and redistribute from high pressure areas such as the rearfoot and forefoot.

ObjectivesTo describe the experiences, priorities, and needs of patients with rheumatic disease and their parents during transition from paediatric to adult healthcare.SettingFace-to-face and telephone semistructured interviews were conducted from December 2018 to September 2019 recruited from five hospital centres in Australia.ParticipantsFourteen young people and 16 parents were interviewed. Young people were included if they were English speaking, aged 14–25 years, diagnosed with an inflammatory rheumatic disease (eg, juvenile idiopathic arthritis, juvenile dermatomyositis, systemic lupus erythematosus, panniculitis, familial Mediterranean fever) before 18 years of age. Young people were not included if they were diagnosed in the adult setting.ResultsWe identified four themes with respective subthemes: avoid repeat of past disruption (maintain disease stability, preserve adjusted personal goals, protect social inclusion); encounter a daunting adult environment (serious and sombre mood, discredited and isolated identity, fear of a rigid system); establish therapeutic alliances with adult rheumatology providers (relinquish a trusting relationship, seek person-focused care, redefine personal–professional boundaries, reassurance of alternative medical supports, transferred trust to adult doctor) and negotiate patient autonomy (confidence in formerly gained independence, alleviate burden on patients, mediate parental anxiety).ConclusionsDuring transition, patients want to maintain disease stability, develop a relationship with their adult provider centralised on personal goals and access support networks. Strategies to comprehensively communicate information between providers, support self-management, and negotiate individualised goals for independence during transition planning may improve satisfaction, and health and treatment outcomes.

Made available in DSpace on 2022-04-29T08:29:27Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-04-01 Juvenile systemic sclerosis (JSSc) is a rare disease of childhood and currently no international consensus exists with regard to its assessment and treatment. This SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) initiative, based on expert opinion informed by the best available evidence, provides recommendations for the assessment and treatment of patients with JSSc with a view to improving their outcome. Experts focused attention not only on the skin assessment but also on the early signs of internal organ involvement whose proper treatment can significantly affect the long-term outcome. A score for disease severity is proposed in order to perform a structured assessment of outcome over time but a validation in a wider patient population is recommended. Finally, a stepwise treatment approach is proposed in order to unify the standard of care throughout Europe with the aim to reduce morbidity and mortality in this disease. Hamburger Zentrum für Kinder- und Jugendrheumatologie Schoen Clinic Department of Woman and Child Health University of Padova, Via Giustiniani 3 Hospital Sant Joan de Déu University of Barcelona Department of Allergy Rheumatology and Clinical Immunology University Children's Hospital Clinical and Academic Paediatric and Adolescent Rheumatology Unit Alder Hey Children's NHS Foundation Trust Rheumatology Women's and Children's Hospital University of Adelaide Rheumatology Children's Hospital Westmead Department of Pediatrics Semmelweis Hospital Department of Pediatrics Cerrahpasa Medical School Istanbul University-Cerrahpasa Pediatric Rheumatology Unit Instituto de Puericultura e Pediatria Martagão Gesteira Universidade Federal Do Rio de Janeiro Centre for Adolescent Rheumatology Institute of Child Health University College London Paediatric Immunology and Rheumatology Wilhelmina Children's Hospital Department of Paediatrics Faculdade de Medicina de Botucatu Department of Paediatric Rheumatology Wilhelmina Children's Hospital European Reference Network RITA Department of Paediatrics Faculdade de Medicina de Botucatu

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children, with lower limb involvement highly prevalent. Recent evidence has highlighted the lack of specific lower limb physical examination (PE) tools for clinicians assisting the paediatric rheumatology team in identifying lower extremity disease in patients with JIA. Early clinical detection may lead to more prompt and targeted interventions to reduce lower limb problems in children with JIA. The aim of this pilot study is to provide preliminary data on the diagnostic accuracy of a lower limb PE tool in JIA. Methods: Children with JIA requiring magnetic resonance imaging (MRI) on their lower limb joints per their usual care were eligible. Lower limb joint counts were conducted clinically by a podiatrist and paediatric rheumatologist using the proposed twenty joint per side, PE tool. The PE were compared to MRI assessments completed by two independent paediatric radiologists. Data were analysed using agreement (observed, positive and negative) and Cohen’s kappa with 95% CIs. Results: Fifteen participants were recruited into the study in which 600 lower limb joints were clinically examined. Statistical analysis showed excellent inter-rater reliability between podiatrist and paediatric rheumatologist for both joint swelling and tenderness. Results of the intra-rater reliability of the podiatrist using the PE tool indicated excellent percentage agreements (98.5–100%) and substantial kappa coefficients (0.93–1). The inter-rater reliability between radiological assessments contrasted the PE results, showing low agreement and poor reliability. Comparisons between PE and MRI resulted in poor kappa coefficients and low agreement percentages. The most agreeable joint between MRI and PE was the ankle joint, while the worst performing joint was the sub-talar joint. Conclusion: Results indicate potential clinical reliability; however, the validity and diagnostic accuracy of the proposed PE tool remains unclear due to low kappa coefficients and inconsistent agreements between PE and MRI results. Further research will be required before the tool may be used in a clinical setting.

PFAPA syndrome—Periodic fever with aphthous stomatitis, pharyngitis, and adenitis—is the most common auto inflammatory condition amongst children worldwide—with the caveat that excludes specific geographic regions with a high prevalence of Familial Mediterranean Fever. A cardinal feature in addition to the described clinical signs is the clockwork like regular periodicity of the fevers. In contrast to most of the other auto inflammatory conditions and cyclic neutropenia the course is usually benign, the condition is self-limiting and the long-term outlook is very favourable, with most children outgrowing the condition by 10 years of age. The precise aetiology remains unknown and to date no specific genetic mutation has been identified although familial cases have been described.

Made available in DSpace on 2019-10-06T16:19:22Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-08-01 In 2012, a European initiative called Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases. Juvenile localised scleroderma (JLS) is a rare disease within the group of paediatric rheumatic diseases (PRD) and can lead to significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physicians' experience. This study aims to provide recommendations for assessment and treatment of JLS. Recommendations were developed by an evidence-informed consensus process using the European League Against Rheumatism standard operating procedures. A committee was formed, mainly from Europe, and consisted of 15 experienced paediatric rheumatologists and two young fellows. Recommendations derived from a validated systematic literature review were evaluated by an online survey and subsequently discussed at two consensus meetings using a nominal group technique. Recommendations were accepted if ≥80% agreement was reached. In total, 1 overarching principle, 10 recommendations on assessment and 6 recommendations on therapy were accepted with ≥80% agreement among experts. Topics covered include assessment of skin and extracutaneous involvement and suggested treatment pathways. The SHARE initiative aims to identify best practices for treatment of patients suffering from PRDs. Within this remit, recommendations for the assessment and treatment of JLS have been formulated by an evidence-informed consensus process to produce a standard of care for patients with JLS throughout Europe. Pediatric Rheumatology University of Padova Pediatric Rheumatology Hospital and Institut de Recerca Sant Joan de Déu Pediatric Rheumatology University Children's Hospital Ljubljana Paediatric Rheumatology Alder Hey Children's NHS Foundation Trust Discipline of Paediatrics Women's and Children's Hospital University of Adelaide Pediatrics Sydney Children's Hospital Network Randwick and Westmead Unit of Paediatric Rheumatology Semmelweis University Pediatric Rheumatology Istanbul University Cerrahpasa Medical Faculty Instituto de Puericultura e Pediatria Martagao Gesteira Rheumatology Great Ormond Street Hospital NHS Trust Servicio de Inmunología/Reumatología Hospital de Pediatria Juan P Garrahan Department of Paediatric Immunology Wilhelmina Children's Hospital University Medical Center Utrecht Departamento de Pediatria Faculdade de Medicina de Botucatu Hospital das Clínicas UNESP Klinikum Eilbek Hamburger Zentrum für Kinder-und Jugendrheumatologie Departamento de Pediatria Faculdade de Medicina de Botucatu Hospital das Clínicas UNESP

Background Tocilizumab (TCZ) intravenous (IV) formulation was approved for the treatment of patients with systemic juvenile idiopathic arthritis (sJIA) based on the results of a large phase 3 clinical trial. Physical function, measured by the Childhood Health Assessment Questionnaire–Disability Index (CHAQ-DI), and health-related quality of life (HRQOL), measured by the Child Health Questionnaire (CHQ), were evaluated. Objectives To examine measures of disability and HRQOL in patients with sJIA treated with TCZ IV for up to 2 years in post hoc analysis of data from the phase 3 trial of TCZ. Methods Changes within 3 months of treatment initiation with TCZ (baseline) were compared between TCZ- and placebo (PBO)–treated patients using CHAQ-DI, pain global assessment (Pain-GA), physician global assessment, and patient global assessment (Pt-GA) using analysis of variance adjusted for treatment group. Changes in CHAQ-DI overall and domain scores and changes in CHQ domain and summary scores from baseline to 2 years were compared for patients treated with TCZ using the unpaired t test. Results Patients with sJIA experienced clinically relevant improvement in physical function (CHAQ-DI) and reduction of pain (Pain-GA). Mean (SD) CHAQ-DI scores for patients treated with PBO and TCZ were 1.7 (0.8) for both groups at baseline and 1.2 (1.0) and 0.9 (0.8), respectively, at week 12 (week 12 mean difference, –0.2; median [range] change from baseline to week 12 difference, –0.3 [–0.6 to 0.0]). These patients also had significantly improved CHQ socialization, behavior, mental health, and psychosocial summary scores after 3 months compared with those receiving PBO (Figure 1). Improvement in all CHAQ-DI domains over 2 years was observed with TCZ treatment (Figure 2); improvement rates in patient well-being (Pt-GA) were 87.7%. Similar improvements in physical function were observed in patients with polyarticular JIA in the phase 3 trial that led to approval of TCZ IV in these patients (not shown). There was also significant improvement (p Conclusion Two years of TCZ treatment resulted in statistically significant and clinically relevant improvements in function and HRQOL in patients with sJIA. Disclosure of Interests Nicolino Ruperto Grant/research support from: The Gaslini Hospital, where NR works as full-time public employee, has received contributions (> 10.000 USD each) from the following industries in the last 3 years: BMS, Eli-Lilly, GlaxoSmithKline, F Hoffmann-La Roche, Janssen, Novartis, Pfizer, Sobi. This funding has been reinvested for the research activities of the hospital in a fully independent manner, without any commitment with third parties., Consultant for: Received honoraria for consultancies or speaker bureaus (

IMPORTANCE Paediatric uveitis is a severe sight-threatening uveitis due to disease progression and treatment failure. Biological agents are a promising new treatment. This study provides real-world data on their use from Sydney, Australia. BACKGROUND Traditionally corticosteroids and non-biological immunosuppressive agents were used to treat paediatric uveitis, often with poor outcomes. DESIGN Retrospective, chart review over an 8-year period at a tertiary referral eye hospital. PARTICIPANTS A total of 27 paediatric uveitis patients treated with biological agents. METHODS Chart review of demographic data and treatment outcomes. MAIN OUTCOME MEASURES Treatment efficacy (corticosteroid-sparing effect, topical steroid cessation/reduction, reduction in systemic-steroid sparing agents, change in intraocular inflammation, visual acuity and central macular thickness); treatment failure; and adverse events. Data were collected at biological initiation, 6 weeks, 6 months and 12 months. RESULTS Biological therapy over 1 year was effective with prednisolone dose reduced to

Objective To investigate the impact of tocilizumab treatment on growth and growth-related laboratory parameters in patients with systemic juvenile idiopathic arthritis (JIA) enrolled in a phase III clinical trial. Methods Patients with systemic JIA ages 2–17 years (n = 112) received tocilizumab in a 12-week, randomized, placebo-controlled period and a long-term open-label extension. Height velocity and standard deviation (SD) score; levels of insulin-like growth factor 1 (IGF-1), osteocalcin (OC), and C-telopeptide of type I collagen (CTX-I); and Juvenile Arthritis Disease Activity Score in 71 joints (JADAS-71) were measured in a post hoc analysis of 83 patients who never received growth hormone and did not reach Tanner stage 5 by the end of the first year of treatment. Results Patients had stunted growth at baseline (mean height SD score −2.2). During tocilizumab treatment, males (73%) and females (83%) experienced above-normal mean height velocities of 6.6 cm/year (P < 0.0001 versus World Health Organization norms). Mean height SD score increases during year 1 (0.29) and year 2 (0.31) were significant (both P < 0.0001). The mean SD score for IGF-1 levels increased significantly (−0.2 for year 1 and −0.1 for year 2 versus −1.0 at baseline; both P < 0.0001). Mean OC and CTX-I levels (both P < 0.0001) and the OC:CTX-I ratio (P = 0.014) significantly increased from baseline to year 2. In multiple regression analysis, first-year height velocity had a significant inverse relationship to JADAS-71 at year 1, age, mean glucocorticoid dosage during the year, and height SD score at baseline. Conclusion Our findings indicate that during treatment with tocilizumab, patients with systemic JIA experience significant catch-up growth, normalization of IGF-1 levels, and bone balance improvement favoring bone formation.

Background Many children and adolescents with juvenile idiopathic arthritis experience lower limb problems which may lead to physical disabilities significantly impacting on their quality of life and symptoms. Emerging evidence has identified the effective role of podiatry in the management of juvenile idiopathic arthritis, suggesting the clinical benefit of different orthotic therapies. Methods This study will be a parallel-group designed, multicentre, randomised controlled trial, aiming to recruit 66 children and adolescents with juvenile idiopathic arthritis aged between 5 and 18 years. Those recruited will need to be diagnosed according to the International League of Associations for Rheumatology criteria, and present with lower limb joint pain, swelling and/or tenderness. Participants will be recruited from three outpatient hospital clinics in New South Wales, Australia. Participants will be randomly allocated to receive a trial or control intervention. The trial group will be prescribed a customised preformed foot orthoses; instead, the control group will receive a flat 1 mm insole with no corrective modifications. Primary outcome measure recorded will be pain. Secondary outcomes will be quality of life, foot disability, swollen and tender joint count and gait parameters (such as plantar pressures, walking speed, stance and swing time). The allocated foot orthoses will be worn for 12 months, with data collected at baseline, 4 weeks, 3, 6 and 12 months intervals. Group allocation will be concealed and all analyses will be carried out on an intention to treat. Discussion The purpose of this trial is to explore the efficacy of a cost-effective, non-invasive podiatric intervention that will be prescribed at the initial biomechanical consultation. This approach will promote early clinical intervention, which is the gold standard in paediatric rheumatology. Furthermore, this study has the potential to provide new evidence for the effectiveness of a mechanical intervention alone to reduce swollen and tender joints in juvenile idiopathic arthritis. Trial registration number This clinical trial has been registered with the Australian New Zealand Clinical Trials Registry: ACTRN12616001082493p. Ethics for this randomised controlled trial has been approved (16/09/21/4.03).

Aim: To describe fundamental movement skills (FMS), physical fitness and level of physical activity among Australian children with juvenile idiopathic arthritis (JIA) and compare this with healthy peers. Methods: Children aged 6-16 years with JIA were recruited from hospital rheumatology clinics and private rheumatology rooms in Sydney, Australia. All children attended an assessment day, where FMS were assessed by a senior paediatric physiotherapist, physical fitness was assessed using the multistage 20-metre shuttle run test, and physical activity and physical and psychosocial well-being were assessed with questionnaires. These results were compared with age- and gender-matched peers from the NSW Schools Physical Activity and Nutrition Survey and the Health of Young Victorians Study using logistic regression analysis. Results: Twenty-eight children with JIA participated in this study. There were no differences in the proportion of children who had mastered FMS between children with JIA and their healthy peers (P > 0.05). However, there was a trend for children with JIA to have poorer physical fitness and be less physically active than healthy peers. Parents of children with JIA indicated more physical and psychosocial impairments among their children and themselves compared with parents of healthy children (P < 0.05). Conclusions: This is the first study in Australia to compare FMS, physical activity and fitness in children with JIA and their peers. While older children with JIA appear to have poorer physical fitness and physical activity levels than their peers, there is no difference in FMS. © 2014 The Authors.

This standards document outlines accepted standards of management for children, adolescents and young adults with juvenile idiopathic arthritis (JIA) in Australia. This document acknowledges that the chronic inflammatory arthritis conditions (JIA) in childhood are different diseases from inflammatory arthritis in adults and that specific expertise is required in the care of children with arthritis.

This study assessed the magnitude of changes in isokinetic muscle strength in children with juvenile idiopathic arthritis (JIA) before and after treatment with intra-articular corticosteroid injection and assessed the feasibility of a larger study of the same effect. Isokinetic dynamometry was used to measure peak knee extension and flexion torque in 12 children before and after treatment for unilateral knee arthritis. Extensor and flexor strength was reduced on the affected side before treatment (-0.56Nm/kg, p = .004 and −0.24Nm/kg, p = .02 respectively). Increases in extensor strength were observed at two weeks (p = .01) and twelve weeks postinjection (p = .03). Improvements at 6 weeks approached but did not reach statistical significance (p = .17). Improvements in flexor strength were not observed until 12 weeks postinjection (p = .03). Despite significant improvements in extensor strength, low peak knee extensor torque continued to be observed at 12 weeks (p = .01). Knee extensor and flexor strength is reduced in children with JIA with active arthritis and improves following intra-articular corticosteroid injection. Significant improvements in knee extensor and flexor strength were seen postinjection; however deficits in extensor strength were still evident at three months. Isokinetic dynamometry was safe and well tolerated in our sample of children with JIA with active arthritis.

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Objective.The main objective was to determine the 2-year clinical benefit and safety of etanercept (ETN) in children with the juvenile idiopathic arthritis (JIA) categories of extended oligoarthritis (eoJIA), enthesitis-related arthritis (ERA), or psoriatic arthritis (PsA).Methods.CLIPPER was a 96-week, phase IIIb, open-label, multicenter study. Patients with eoJIA, ERA, or PsA received ETN 0.8 mg/kg once weekly (50 mg max) for up to 96 weeks. The proportions of patients reaching the JIA American College of Rheumatology (ACR) 30/50/70/90/100 and inactive disease responses at Week 96 were calculated. Adverse events (AE) were collected throughout the study (intention-to-treat sample).Results.There were 127 patients (eoJIA n = 60, ERA n = 38, PsA n = 29) who received ≥ 1 dose of ETN. The mean disease duration was 31.6 (eoJIA), 23.0 (ERA), and 21.8 (PsA) months. At Week 96, JIA ACR 30/50/70/90/100/inactive disease responses (95% CI) were achieved by 84.3% (76.7, 90.1), 83.5% (75.8, 89.5), 78.7% (70.6, 85.5), 55.1% (46.0, 63.9), 45.7% (36.8, 54.7), and 27.6% (20.0, 36.2) of patients, respectively. The most common AE (no. events, events per 100 patient-yrs) overall were headache (23, 10.7), pyrexia (12, 5.6), and diarrhea (10, 4.6). The most common infections were upper respiratory tract infection (83, 38.6), pharyngitis (50, 23.2), gastroenteritis (22, 10.2), bronchitis (19, 8.8), and rhinitis (17, 7.9). No cases of malignancy, active tuberculosis, demyelinating disorders, or death were reported.Conclusion.Over 96 weeks of therapy, ETN demonstrated sustained efficacy at treating the clinical symptoms of all 3 JIA categories, with no major safety issues.

Juvenile Localized Scleroderma (JLS) and Juvenile Systemic Sclerosis (JSSc) form a group of rare pediatric diseases that can lead to significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physician’s experience. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases.

To describe fundamental movement skills (FMS), physical fitness and level of physical activity among Australian children with juvenile idiopathic arthritis (JIA) and compare this with healthy peers.Children aged 6-16 years with JIA were recruited from hospital rheumatology clinics and private rheumatology rooms in Sydney, Australia. All children attended an assessment day, where FMS were assessed by a senior paediatric physiotherapist, physical fitness was assessed using the multistage 20-metre shuttle run test, and physical activity and physical and psychosocial well-being were assessed with questionnaires. These results were compared with age- and gender-matched peers from the NSW Schools Physical Activity and Nutrition Survey and the Health of Young Victorians Study using logistic regression analysis.Twenty-eight children with JIA participated in this study. There were no differences in the proportion of children who had mastered FMS between children with JIA and their healthy peers (P0.05). However, there was a trend for children with JIA to have poorer physical fitness and be less physically active than healthy peers. Parents of children with JIA indicated more physical and psychosocial impairments among their children and themselves compared with parents of healthy children (P0.05).This is the first study in Australia to compare FMS, physical activity and fitness in children with JIA and their peers. While older children with JIA appear to have poorer physical fitness and physical activity levels than their peers, there is no difference in FMS.

To investigate the impact of tocilizumab treatment on growth and growth-related laboratory parameters in patients with systemic juvenile idiopathic arthritis (JIA) enrolled in a phase III clinical trial.Patients with systemic JIA ages 2-17 years (n = 112) received tocilizumab in a 12-week, randomized, placebo-controlled period and a long-term open-label extension. Height velocity and standard deviation (SD) score; levels of insulin-like growth factor 1 (IGF-1), osteocalcin (OC), and C-telopeptide of type I collagen (CTX-I); and Juvenile Arthritis Disease Activity Score in 71 joints (JADAS-71) were measured in a post hoc analysis of 83 patients who never received growth hormone and did not reach Tanner stage 5 by the end of the first year of treatment.Patients had stunted growth at baseline (mean height SD score -2.2). During tocilizumab treatment, males (73%) and females (83%) experienced above-normal mean height velocities of 6.6 cm/year (P0.0001 versus World Health Organization norms). Mean height SD score increases during year 1 (0.29) and year 2 (0.31) were significant (both P0.0001). The mean SD score for IGF-1 levels increased significantly (-0.2 for year 1 and -0.1 for year 2 versus -1.0 at baseline; both P0.0001). Mean OC and CTX-I levels (both P0.0001) and the OC:CTX-I ratio (P = 0.014) significantly increased from baseline to year 2. In multiple regression analysis, first-year height velocity had a significant inverse relationship to JADAS-71 at year 1, age, mean glucocorticoid dosage during the year, and height SD score at baseline.Our findings indicate that during treatment with tocilizumab, patients with systemic JIA experience significant catch-up growth, normalization of IGF-1 levels, and bone balance improvement favoring bone formation.

Objective. Systemic lupus erythematosus (SLE) isa chronic and heterogeneous autoimmune disease. Both twin and sibling studies indicate a strong genetic contribution to lupus, but in the majority of cases the pathogenic variant remains to be identified. The genetic contribution to disease is likely to be greatest in cases with early onset and severe phenotypes. Whole-exome sequencing now offers the possibility of identifying rare alleles responsible for disease in such cases. This study was undertaken to identify genetic causes of SLE using whole-exome sequencing.Methods. We performed whole-exome sequencing in a 4-year-old girl with early-onset SLE and conducted biochemical analysis of the putative defect.Results. Whole-exome sequencing in a 4-year-old girl with cerebral lupus identified a rare, homozygous mutation in the three prime repair exonuclease 1 gene(TREX1) that was predicted to be highly deleterious.The TREX1 R97H mutant protein had a 20-fold reduction in exonuclease activity and was associated with an elevated interferon-alpha signature in the patient.The discovery and characterization of a pathogenic TREX1 variant in our proband has therapeutic implications.The patient is now a candidate for therapy. Conclusion. Our study is the first to demonstrate that whole-exome sequencing can be used to identify rare or novel deleterious variants as genetic causes of SLE and, through a personalized approach, improve therapeutic options.

Objective: To determine the spectrum of musculoskeletal complications of cystic fibrosis (CF) in a paediatric population in Australia. Method: Clinical assessment followed by serology and bone scan on patients attending a specialized CF clinic. Results: Of 125 patients studied, 21 had musculoskeletal complications, 17 attributable to CF. Eleven had joint involvement (six hypertrophic pulmonary osteoarthropathy (HPOA)), one CF arthropathy, two ciprofloxacin induced arthralgia, one joint contracture following long-line placement, one chest infection associated arthralgia), four kyphosis (two also with HPOA) and two thoracic deformity. HPOA was associated with older age, lower average pulmonary function and lower average Shwachman score. Three patients with HPOA died within 12 months of reporting symptoms. Kyphosis was also associated with older age and lower pulmonary function. Conclusion: Increasing age with deteriorating clinical and pulmonary function were associated with a higher incidence of musculoskeletal involvement. The development of symptomatic HPOA is a marker of poor prognosis.

This standards document outlines accepted standards of management for children, adolescents and young adults with juvenile idiopathic arthritis (JIA) in Australia. This document acknowledges that the chronic inflammatory arthritis conditions (JIA) in childhood are different diseases from inflammatory arthritis in adults and that specific expertise is required in the care of children with arthritis.

An 11-year-old girl had four episodes of fever in a year, lasting 7-10 days and associated with headache and neck stiffness. She had a long history of recurrent urticaria, usually preceding the fevers. There was also a history of vague pains in her knees and in the small joints of her hands. Her serum C-reactive protein was moderately raised at 41 g/L (normal8). Her rheumatologist felt the association of recurrent fevers that lasted 7 or more days with headaches, arthralgia and recurrent urticaria suggested one of the periodic fever syndromes. Genetic testing confirmed she had a gene mutation consistent with one of tumour necrosis factor receptor-associated periodic syndrome.

We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy. These patients highlight the importance of tissue non-specific alkaline phosphatase in the neuronal PLP-dependent metabolism of neurotransmitters. In addition, the disturbance of PLP metabolism appears to underlie the predominant neurological presentation in our patients. We recommend the measurement of serum alkaline phosphatase (ALP) during the assessment of perinatal seizures.

We report two individuals with familial Mediterranean fever (FMF) confirmed on genetic testing who also had progressive deafness and mutations in the CIAS1 gene. This is the first report of co-existent mutations in the CIAS1 and MEFV genes in the literature. Patient 1, a boy, was investigated for splenomegaly in infancy without an identified cause. He had speech delay at the age of 3 years with mild conductive hearing deficit and at 5 years sensorineural deafness of 60 dB bilaterally in the 2000–3000 Hz range. At 6 years of age he developed recurrent fever, abdominal pain, arthritis and raised inflammatory markers. FMF …

A 6-year-old boy with improving juvenile dermatomyositis (JDM) developed severe and debilitating calcinosis, unresponsive to diltiazem and probenecid. Alendronate produced dramatic improvement within 1 month and by 12 months calcinosis had virtually resolved. The response was followed by bone mineral content measurements.

We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.

Thalidomide was withdrawn from world markets in 1961 following recognition of its teratogenic effects. More recently, however, thalidomide treatment has been reintroduced to adult and paediatric practice for a variety of dermatologic, immunologic, rheumatologic and neoplastic disorders. Neuropathy is a significant side effect of thalidomide therapy, which may limit its clinical use. We report four cases of sensorimotor axonal neuropathy in children aged 10-15 years, treated with thalidomide for myxopapillary ependymoma, Crohn's disease and recurrent giant aphthous ulceration. Thalidomide neuropathy is often associated with proximal weakness and may progress even after discontinuation of treatment, in the phenomenon of 'coasting'. Children treated with thalidomide should undergo regular neurophysiologic studies in order to detect presymptomatic or progressive peripheral neuropathy.

A questionnaire survey of 363 children and young adults with juvenile arthritis was conducted to assess the relations among disease severity, psychosocial functioning, and adjustment in three age groups—primary school, high school, and young adult. Parents were surveyed separately to determine which characteristics of the ill child at different ages most significantly impact the well-being of the family. Indices of psychologic functioning and disease severity were associated with adjustment in the primary school and high school groups, whereas measures of social relationships were strongly associated with adjustment only in the high school group. Relations among measures of psychologic functioning, social relationships, disease severity, and adjustment in young adults were minimal. Level of disease severity was associated with the presence of financial concerns, emotional problems, and physical strain in parents of high school children and young adults. The results emphasize the importance of using a developmental model for understanding the adjustment of individuals with chronic juvenile arthritis and their families.

For a period of three months, the incidence of hip abnormality was determined in 450 consecutive deliveries at the Hornsby and Ku-ring-gai Hospital newborn nursery. Three children were found to have dislocatable hips, and received treatment with a von Rosen splint. In 60 babies, soft tissue clicks could be elicited but the joints were stable. These babies received no treatment, but were reassessed one and six weeks later. No hip abnormality was detected in any of them at the follow-up examination. A retrospective analysis of the records of the previous 450 newborn babies showed that nine had received treatment with double nappies; von Rosen splints had not been used. At the six-month follow-up examination, one of these nine babies had a dislocated hip. "Double nappies" as a treatment modality is still widely practised in Sydney, though neither the literature nor the results of our retrospective analysis support its efficacy.