A decade of progress in juvenile idiopathic athritis treatments and outcomes in Canada: results from ReACCh-Out and the CAPRI registry.

OBJECTIVE: To assess changes in juvenile idiopathic arthritis (JIA) treatments and outcomes in Canada, comparing a 2005-2010 and a 2017-2021 inception cohorts. METHODS: Patients enrolled within three months of diagnosis in the Research in Arthritis in Canadian Children Emphasizing Outcomes (ReACCh-Out) and the Canadian Alliance of Pediatric Rheumatology Investigators Registry (CAPRI) cohorts were included. Cumulative incidences of drug starts and outcome attainment within 70 weeks of diagnosis were compared with Kaplan Meier survival analysis and multivariable Cox regression. RESULTS: The 2005-2010 and 2017-2021 cohorts included 1128 and 721 patients, respectively. JIA category distribution and baseline clinical juvenile idiopathic arthritis disease activity (cJADAS10) scores at enrolment were comparable. By 70 weeks, 6% of patients (95% CI 5, 7) in the 2005-2010 and 26% (23, 30) in the 2017-2021 cohort had started a biologic DMARD (bDMARD), and 43% (40, 47) and 60% (56, 64) had started a conventional DMARD (cDMARD), respectively. Outcome attainment was 64% (61, 67) and 83% (80, 86) for Inactive disease (Wallace criteria), 69% (66, 72) and 84% (81, 87) for minimally active disease (cJADAS10 criteria), 57% (54, 61) and 63% (59, 68) for pain control (<1/10), and 52% (47, 56) and 54% (48, 60) for a good health-related quality of life. CONCLUSION: Although baseline disease characteristics were comparable in the 2005-2010 and 2017-2021 cohorts, cDMARD and bDMARD use increased with a concurrent increase in minimally active and inactive disease. Improvements in parent and patient reported outcomes were smaller than improvements in disease activity.

Choosing Wisely: The Canadian Rheumatology Association Pediatric Committee's List of Items Physicians and Patients Should Question.

OBJECTIVE: To develop a list of tests or treatments frequently used in pediatric rheumatology practice that may be unnecessary based on existing evidence. METHODS: A Choosing Wisely (CW) working group composed of 16 pediatric rheumatologists, 1 allied health professional, 1 parent, and 1 patient used the Delphi method to generate, rank, and refine a list of tests and treatments that may be unnecessary or harmful. The items with the highest content agreement and perceived impact were presented in a survey to all Canadian Rheumatology Association (CRA) physicians who practice pediatric rheumatology. Respondents were asked to rate their agreement and impact, and to rank the items. Five items with the highest composite scores and 2 additional items selected by the CW working group were put forward for literature review. RESULTS: The initial Delphi procedure generated 80 items. After 3 rounds, the list was narrowed to 13 items. The survey was completed by 41/81 (51%) CRA pediatric members across Canada. Respondent characteristics were similar to those of the CRA pediatric membership for self-reported gender, geographical location, and career stage. The highest composite score items were antinuclear antibody testing, drug toxicity monitoring, HLA-B27 testing, rheumatoid factor/anticyclic citrullinated peptide testing, and Lyme serology testing. Two additional items (numerous or repeated intraarticular corticosteroid injections, and autoinflammatory diseases genetic testing) were also selected. Literature review was performed for these 7 highest priority items. CONCLUSION: We have identified areas for quality improvement in the evaluation and treatment of rheumatic diseases in Canadian children.

Mind the Gap: A Longitudinal Analysis of the Experiences of Adolescents and Parents in a Rheumatology Transition Clinic.

BACKGROUND: The transition from pediatric to adult care is a critical time when adolescent patients and their families face many challenges. This period can be associated with an increase in disease-related morbidity and mortality. The aim of our study is to identify gaps in transition-related care to help guide areas for improvement. METHODS: Patients (14-19 years) with juvenile idiopathic arthritis or systemic lupus erythematosus and one of their parents were recruited from the McMaster Rheumatology Transition Clinic. Both were asked to complete the Mind the Gap questionnaire, a validated tool to assess experience and satisfaction with transition care in a clinic setting. The questionnaire, addressing 3 important domains of care: management of the environment, provider characteristics, and process issues, was completed twice-once based on their current clinical experience and again based on their ideal clinical encounter. Positive scores suggest current care is less than ideal; negative scores suggest current care exceeds the ideal experience. RESULTS: Most patients (n = 65, 68% female) had a diagnosis of juvenile idiopathic arthritis (87%). Patients identified mean gap scores between 0.2 and 0.3 for each domain of Mind the Gap, with female patients having higher gap scores compared with male patients. Parents (n = 51) identified gap scores between 0.0 and 0.3. Patients identified process issues as having the largest gap, whereas parents identified management of the environment as having the largest gap. CONCLUSIONS: We identified several gaps in transition clinic care relative to what patients and parents identify as ideal. These can be used to improve the rheumatology transition care that is currently being provided.

Self-Reported Transition Readiness of Adolescent Patients with Rheumatic Disease: Do the Parents Agree?

Our objective was to compare transition readiness assessment scores from adolescents with rheumatic disease with their parents and analyze their level of agreement. We found that adolescents and parents generally agree on the level of the transition readiness; however, there is occasional disagreement in specific domains.

Pediatric Patients with a Dual Diagnosis of Inflammatory Bowel Disease and Chronic Recurrent Multifocal Osteomyelitis.

ABSTRACT: There is a paucity of information about the epidemiology, pathophysiology, and treatment of patients with a dual diagnosis of inflammatory bowel disease (IBD) and chronic recurrent multifocal osteomyelitis (CRMO). A retrospective chart review was performed of patients at McMaster Children's Hospital with a diagnosis of either IBD or CRMO, to identify those with the dual diagnosis over a 10-year period. A dual diagnosis was identified in seven patients. Most patients (6/7) had a diagnosis of IBD first and were subsequently diagnosed with CRMO. At the time of CRMO diagnosis, IBD treatment regimens included one or more of, sulfasalazine (1/6), infliximab (3/6), adalimumab (1/6), or no treatment (1/6). Although the etiology of the link remains unknown, there does not seem to be an association to a specific IBD subtype, age, or treatment. Our patient population demonstrated a response to biologic agents, specifically tumor necrosis factor-α inhibitors, as treatment for both conditions.

Clinical and psychosocial stress factors are associated with decline in physical activity over time in children with juvenile idiopathic arthritis.

BACKGROUND: Physical activity (PA) patterns in children with juvenile idiopathic arthritis (JIA) over time are not well described. The aim of this study was to describe associations of physical activity (PA) with disease activity, function, pain, and psychosocial stress in the 2 years following diagnosis in an inception cohort of children with juvenile idiopathic arthritis (JIA). METHODS: In 82 children with newly diagnosed JIA, PA levels, prospectively determined at enrollment, 12 and 24 months using the Physical Activity Questionnaire for Children (PAQ-C) and Adolescents (PAQ-A) raw scores, were evaluated in relation to disease activity as reflected by arthritis activity (Juvenile Arthritis Disease Activity Score (JADAS-71)), function, pain, and psychosocial stresses using a linear mixed model approach. Results in the JIA cohort were compared to normative Pediatric Bone Mineral Accrual Study data derived from healthy children using z-scores. RESULTS: At enrollment, PA z-score levels of study participants were lower than those in the normative population (median z-score - 0.356; p = 0.005). At enrollment, PA raw scores were negatively associated with the psychosocial domain of the Juvenile Arthritis Quality of Life Questionnaire (r = - 0.251; p = 0.023). There was a significant decline in PAQ-C/A raw scores from baseline (median and IQR: 2.6, 1.4-3.1) to 24 months (median and IQR: 2.1, 1.4-2.7; p = 0.003). The linear mixed-effect model showed that PAQ-C/A raw scores in children with JIA decreased as age, disease duration, and ESR increased. The PAQ-C/A raw scores of the participants was also negatively influenced by an increase in disease activity as measured by the JADAS-71 (p <  0.001). CONCLUSION: Canadian children with newly diagnosed JIA have lower PA levels than healthy children. The decline in PA levels over time was associated with disease activity and higher disease-specific psychosocial stress.

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

BACKGROUND: Biallelic loss-of-function variants in NCF1 lead to reactive oxygen species deficiency and chronic granulomatous disease (CGD). Heterozygosity for the p.Arg90His variant in NCF1 has been associated with susceptibility to systemic lupus erythematosus, rheumatoid arthritis, and Sjögren's syndrome in adult patients. This study demonstrates the association of the homozygous p.Arg90His variant with interferonopathy with features of autoinflammation and autoimmunity in a pediatric patient. CASE PRESENTATION: A 5-year old female of Indian ancestry with early-onset recurrent fever and headache, and persistently elevated antinuclear, anti-Ro, and anti-La antibodies was found to carry the homozygous p.Arg90His variant in NCF1 through exome sequencing. Her unaffected parents and three other siblings were carriers for the mutant allele. Because the presence of two NCF1 pseudogenes, this variant was confirmed by independent genotyping methods. Her intracellular neutrophil oxidative burst and NCF1 expression levels were normal, and no clinical features of CGD were apparent. Gene expression analysis in peripheral blood detected an interferon gene expression signature, which was further supported by cytokine analyses of supernatants of cultured patient's cells. These findings suggested that her inflammatory disease is at least in part mediated by type I interferons. While her fever episodes responded well to systemic steroids, treatment with the JAK inhibitor tofacitinib resulted in decreased serum ferritin levels and reduced frequency of fevers. CONCLUSION: Homozygosity for p.Arg90His in NCF1 should be considered contributory in young patients with an atypical systemic inflammatory antecedent phenotype that may evolve into autoimmunity later in life. The complex genomic organization of NCF1 poses a difficulty for high-throughput genotyping techniques and variants in this gene should be carefully evaluated when using the next generation and Sanger sequencing technologies. The p.Arg90His variant is found at a variable allele frequency in different populations, and is higher in people of South East Asian ancestry. In complex genetic diseases such as SLE, other rare and common susceptibility alleles might be necessary for the full disease expressivity.

Transition Readiness in Adolescents With Juvenile Idiopathic Arthritis and Childhood-Onset Systemic Lupus Erythematosus.

OBJECTIVE: The transition from pediatric to adult rheumatology care represents a particularly vulnerable time for patients with juvenile idiopathic arthritis (JIA) and childhood-onset systemic lupus erythematosus (cSLE). Improving self-management skills is important in optimizing health care transition. The study's objectives were to 1) examine variability in transition readiness of adolescents and young adults within and between different ages, sexes, and disease types; 2) determine the association between age and transition readiness; and 3) identify specific challenges to transition readiness for adolescents. METHODS: Over 1 year, patients 14 to 20 years of age with JIA or cSLE were recruited from pediatric transition and young adult clinics at a single academic institution. Participants completed the 14-item Transition-Q at a single time point. Total scores range from 0 to 100; higher scores indicate greater health care self-management skills as a proxy for transition readiness. Descriptive statistics summarized patient characteristics and Transition-Q scores for the population. Regression analyses determined the association between age, sex, and disease type and Transition-Q score. RESULTS: Among 70 participants, 61 had JIA and 9 cSLE (mean disease duration 4.6 years). The mean (SD) total Transition-Q score was 59.8 (14.9). Age was significantly associated with Transition-Q score (standardized ß = 0.372l P = 0.002). The most commonly reported challenges were seeing the physician alone (without parents), making one's own appointments, picking up prescriptions, and independent transportation for appointments. CONCLUSION: Transition readiness appears to increase with patient age. There is significant variability in Transition-Q scores between patients of the same age, suggesting that an individualized approach to improving self-management skills is necessary.

A wearable activity tracker intervention for promoting physical activity in adolescents with juvenile idiopathic arthritis: a pilot study.

BACKGROUND: Children and adolescents with juvenile idiopathic arthritis (JIA) are less physically active than their healthy peers and are at high risk of missing out on the general health benefits of physical activity. Wearable activity trackers are a promising option for intervening in this population with potential advantages over traditional exercise prescriptions. The objectives of this study were to: (1) determine the feasibility of a wearable activity tracker intervention in adolescents with JIA; and (2) estimate the variability in response to a wearable activity tracker intervention on the physical activity levels of adolescents with JIA. METHODS: Participants aged 12-18 years with JIA were recruited during their routine rheumatology clinic visits at a tertiary care hospital. Participants completed the 3-Day Physical Activity Recall self-reported questionnaire at baseline, 1 week and 5 week follow-up. At the 1 week follow up, participants were instructed to start wearing an activity tracker for 28 consecutive days. Participants completed a feasibility questionnaire at their end of study visit. Participant demographics, adherence rates and feasibility outcomes were summarized using descriptive statistics. The effect of wearing a tracker on moderate-to-vigorous physical activity (MVPA) and total metabolic equivalents (METs) per day were analyzed using a paired t-test. RESULTS: Twenty-eight participants (74% female; median age 15.1, range 12.8-18.6) were included in the analysis. All of the participants were able to synchronize the activity tracker to a supported device, use the activity tracker correctly and complete the study measurements. On average, participants had activity logged on their smartphone application for 72% of the intervention period. The standard deviation of the change in mean METs/day was 12.148 and for mean MVPA blocks/day was 3.143 over the study period. CONCLUSION: Wrist worn activity tracking is a feasible intervention for adolescent patients with JIA. More research is needed to examine the effect of activity tracking on physical activity levels. TRIAL REGISTRATION: Not an applicable clinical device trial as per the criteria listed on ClinicalTrials.gov as the primary objective is feasibility.

Objectively measured physical activity of young Canadian children using accelerometry.

The objective of the study was to describe objectively measured physical activity (PA) and sedentary time of infants, toddlers, and preschoolers and determine the proportion meeting Canadian age-specific PA guidelines. Ninety children (47 girls, 43 boys; mean age 32 (range, 4-70) months) attending scheduled health supervision visits and in the TARGet Kids! (The Applied Research Group for Kids) cohort wore an Actical accelerometer for 7 days. Participants with 4 or more valid days were included in the analysis. Time, in mean minutes per day (min/day), spent sedentary and in light PA, moderate to vigorous PA (MVPA), and total PA was determined using published cut-points; age groups were compared using ANOVA. Twenty-three percent of children <18 months (n = 28) and 76% of children aged 18-59 months (n = 45) met the guideline of 180 min/day of total PA; 13% of children ≥60 months (n = 17) met the guideline of 60 min/day of MVPA. Children <18 months spent more of their waking time per day engaged in sedentary behaviours (79%; ∼7.3 h) compared with children aged 18-59 months (63%; ∼6.6 h) and children ≥60 months (58%; ∼6.6 h). In conclusion, most children aged 18-59 months met the Canadian PA guidelines for children aged 0-4 years, whereas few younger than 18 months met the same guidelines. Only 13% of children ≥5 years met their age-specific PA guidelines. Further research is needed to develop, test, and implement effective strategies to promote PA and reduce sedentary behaviour in very young children.

Exercise and physical activity in children with cystic fibrosis.

Regular exercise and habitual physical activity are important for patients with cystic fibrosis (CF). Research has demonstrated the benefits of aerobic, anaerobic, and strength exercise training programs for health and quality of life, however, the CF patient is faced with unique barriers and challenges to participation. Recently, increased levels of habitual physical activity have been shown to slow the decline in lung function in patients with CF, and regular participation in a variety of activities may result in greater adherence in the long term. Research is now available to justify the incorporation of exercise into the routine care of patients with CF. This paper provides the background and rationale for the implementation of exercise and habitual physical activity recommendations by the health care team. Education of health care providers regarding the importance of exercise and habitual physical activity for patients with CF is needed in order for exercise and physical activity to be incorporated as key components of clinical practice and into the lives of patients with CF.

Assessment of body composition in pediatric patients with cystic fibrosis.

RATIONALE: Cystic fibrosis (CF) leads to pathological changes in organs that express the cystic fibrosis transmembrane conductance regulator (CFTR), including secretory cells of the digestive tract and the pancreas. Maintaining nutritional sufficiency is challenging for CF patients and therefore accurate monitoring is important for their clinical management. PURPOSE: The objectives of this study were to evaluate the effectiveness of skinfold measurements as an accurate method for determining body composition (fat mass (FM) and lean body mass (LBM)) of this population, using dual-energy X-ray absorptiometry (DEXA) as a gold standard comparison and to determine the most accurate equation for this calculation in children with CF. METHODS: Fifty-five pediatric patients with CF participated in the study. FM and LBM calculated via four methods: Slaughter, Durnin, Durenberg (2-site and 4-site). The relationship between the methods and DEXA results were estimated by intraclass-correlation coefficient (ICC) and Bland and Altman analyses. RESULTS: The Slaughter method was the most accurate (ICC of 0.92 for FM and 0.99 for LBM) and displayed the least bias over the range of FM and LBM in CF patients. In addition, the results of Bland Altman analyses comparing each skinfold method to DEXA, revealed that the results were evenly distributed along the range of values for the Slaughter calculation, whereas the other three methods under and over estimated % fat results at the upper and lower ends of the range respectively. CONCLUSION: We therefore conclude that the Slaughter method may be used for body composition assessment of pediatric CF patients. This provides clinical teams with a simple, accurate and non-invasive method that can be used to monitor nutritional status in pediatric patients with CF.