Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets. We report a 2-year, 10-month-old girl with CSHS treated with burosumab, a novel human monoclonal antibody targeting FGF23. This approach was associated with rickets healing, improvement in growth and lower limb deformity, and clinically significant benefit to her functional mobility and motor development.

Disease activity trajectories in juvenile dermatomyositis from childhood to adulthood.

Objectives: To assess whether there are identifiable subgroups of disease activity trajectory in a population of JDM patients-followed throughout childhood and into adulthood-and determine factors that predict those trajectory groupings.

Methods: This is a retrospective, longitudinal inception cohort of patients with idiopathic inflammatory myopathies, largely JDM. We sought to identify baseline factors that predict membership into different groups (latent classes) of disease activity trajectory.

Teaching Adolescents With Type 1 Diabetes Self-Compassion (TADS) to Reduce Diabetes Distress: Protocol for a Randomized Controlled Trial.

Background: Adolescents living with type 1 diabetes (T1D) often experience diabetes distress (DD), a construct distinct from depression or anxiety that refers to the negative emotions that arise from living with and managing diabetes. Self-compassion, which involves being open to one's own suffering and treating oneself with the same care one would show to loved ones, is associated with better psychological and clinical outcomes among individuals with T1D. Self-compassion is a skill that can be taught and therefore represents an opportunity for intervention.

Lengthening sleep reduces pain in childhood arthritis: a crossover randomised controlled trial.

Objectives: Juvenile idiopathic arthritis (JIA) is a common chronic childhood disease and chronic pain is a debilitating feature. A strong link has been shown between poor sleep and pain in JIA. However, the causal direction is unknown.

Implementation and evaluation of a longitudinal diabetes educational programme for adolescents.

Introduction: International guidelines recommend educational programmes to expand diabetes knowledge and self-efficacy in youth. To address these recommendations within a paediatric diabetes clinic, we conducted a three-phase quality improvement project aimed at improving adolescents' confidence in diabetes self-management skills.

Methods: In phase 1, the Diabetes Learning Centre (DLC), an educational programme for adolescents with type 1 diabetes (T1D) ages 13-17 years, was developed and implemented.

The clinical features of juvenile dermatomyositis: A single-centre inception cohort.

Introduction: Juvenile Dermatomyositis (JDM), a severe and rare autoimmune disease, is the most common idiopathic inflammatory myopathy in children. We describe the clinical features of a large single-centre cohort.

Methods: We studied an inception cohort (0-18 years old) referred for diagnosis to the JDM clinic at The Hospital for Sick Children (SickKids), between January 1989 and September 2017.

Early Abnormal Nailfold Capillary Changes Are Predictive of Calcinosis Development in Juvenile Dermatomyositis.

Objective: The long-term outcomes of juvenile dermatomyositis (JDM) are more favorable in recent years. However, calcinosis is still among the complications that can cause serious functional impairment. Little is known about the pathogenesis and risk factors of calcinosis.

Feasibility of the wingate anaerobic exercise test as a clinical measure in patients with juvenile dermatomyositis.

Background: Core sets, while widely adopted for clinical assessment in juvenile dermatomyositis (JDM), have some drawbacks - they are time consuming, were developed primarily for research, and require an experienced multidisciplinary team. We propose the Wingate Anaerobic Test, a 30-s all out test performed on a cycle ergometer, as a potential alternative; it is valid and reliable in this patient population. We aimed to determine the feasibility of performing the Wingate test as part of a typical clinic visit, and to determine if it is correlated to current measures of disease activity.

Magnetic resonance imaging in boys with severe hemophilia A: Serial and end-of-study findings from the Canadian Hemophilia Primary Prophylaxis Study.

Background: This study examined the structural outcomes for joints of boys with severe hemophilia A receiving frequency/dose-escalated primary prophylaxis using magnetic resonance imaging (MRI), and the importance of interval MRI changes.

Methods: Forty-six subjects (27 with interval studies) were evaluated by radiographs (X-rays) and mid- and end-of-study MRIs (using the International Prophylaxis Study Group scale), as part of the Canadian Hemophilia Prophylaxis Study. The primary outcome was the presence of MRI osteochondral findings.

Musculoskeletal ultrasound in hemophilia: Results and recommendations from a global survey and consensus meeting.

Introduction: For persons with hemophilia, optimization of joint outcomes is an important unmet need. The aim of this initiative was to determine use of ultrasound in evaluating arthropathy in persons with hemophilia, and to move toward consensus among hemophilia care providers regarding the preferred ultrasound protocols for global adaptation.

Methods: A global survey of hemophilia treatment centers was conducted that focused on understanding how and why ultrasound was being used and endeavored to move toward consensus definitions of both point-of-care musculoskeletal ultrasound (POC-MSKUS) and full diagnostic ultrasound, terminology to describe structures being assessed by ultrasound, and how these assessments should be interpreted.

Patterns of joint damage in severe haemophilia A treated with prophylaxis.

Objective: The primary objective of this study was to assess whether there are different patterns (classes) of joint health in young boys with severe haemophilia A (SHA) prescribed primary tailored prophylaxis. We also assessed whether age at first index joint bleed, blood group, FVIII gene abnormality variant, factor VIII trough level, first-year bleeding rate and adherence to the prescribed prophylaxis regimen significantly predicted joint damage trajectory, and thus class membership.

Methods: Using data collected prospectively as part of the Canadian Hemophilia Primary Prophylaxis Study (CHPS), we implemented a latent class growth mixture model technique to determine how many joint damage classes existed within the cohort.

Measuring the impact of hemophilia on families: Development of the Hemophilia Family Impact Tool (H-FIT).

Introduction: This study aimed to assess the impact of hemophilia on families, in the context of current and emerging hemostatic therapies, and explore the need for a hemophilia-specific tool targeted at parents of boys aged <4 years. A secondary aim was to develop and validate the new tool.

Methods: Focus groups were conducted with parents of boys with hemophilia and hemophilia health care providers at Canadian hemophilia treatment centers (HTCs) to review the relevance of the Pediatric Quality of Life Family Impact Module (PedsQL-FIM); a novel questionnaire was developed by identifying core themes expressed.

Updating the Canadian Hemophilia Outcomes-Kids' Life Assessment Tool (CHO-KLAT) in the era of extended half-life clotting factor concentrates.

Introduction: The purpose of this study was to review and update the content of the Canadian Hemophilia Outcomes-Kids' Life Assessment Tool version 2.0 (CHO-KLAT), in the context of extended half-life (EHL) factor concentrates (FCs) and to establish the validity and reliability of the updated CHO-KLAT.

Methods: Focus groups were conducted with boys with hemophilia, their parents, and health care providers across Canada to review the CHO-KLAT v2.

Comparing the Measurement Properties and Preferability of Patient-reported Outcome Measures in Pediatric Rheumatology: PROMIS vs CHAQ.

Objective: The Childhood Health Assessment Questionnaire (CHAQ), though widely used for assessments in pediatric rheumatology, has drawbacks, including low correlation to disease activity and ceiling effects. We sought to determine if any tools from the Patient Reported Outcomes Measurement Information System (PROMIS) improve on these shortcomings and/or are preferred by patients.

Methods: Patients 5-17 years of age with juvenile idiopathic arthritis (JIA) or juvenile dermatomyositis (JDM) were recruited from the rheumatology clinics at a Canadian children's hospital.

The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis: A Randomized, Double-blind, Placebo-controlled Feasibility Study.

Objective: To evaluate the feasibility of studying creatine in juvenile dermatomyositis (JDM). Secondary objectives were to determine the effect of creatine on muscle function and metabolism, aerobic capacity, fatigue, physical activity, and quality of life (QOL), as well as its safety.

Methods: We conducted a 6-month, double-blind, randomized, multiple-baseline design; patients were assigned to creatine or placebo.

Clinical outcomes in hemophilia: Towards development of a core set of standardized outcome measures for research.

Introduction: A lack of uniformity in the choice of outcome measurement in hemophilia care and research has led to studies with incomparable results. We identified a need to define core outcome measures for use in research and clinical care of persons with hemophilia.

Objective: To move toward a core set of outcome measures for the assessment of persons with hemophilia in research and practice.

Use of ultrasound for assessment of musculoskeletal disease in persons with haemophilia: Results of an International Prophylaxis Study Group global survey.

Aim: The objective of this survey was to understand the global trends of imaging assessments in persons with haemophilia, focusing on point-of-care ultrasound (POCUS). Insights into the barriers impeding its widespread proliferation as a frontline imaging modality were obtained.

Methods: The survey opened in September of 2017 and closed in May of 2018.

Correlation of a Modified Disease Activity Score (DAS) with the Validated Original DAS in Patients with Juvenile Dermatomyositis.

Objective: Juvenile dermatomyositis (JDM) is a rare disease in children that is treatable, but patients may suffer from long-term effects. Clinical trials are needed to find better treatments for affected patients. Among validated tools for evaluating disease activity clinically is the Disease Activity Score (DAS), but it is not routinely collected in all clinics.

Hemophilia prophylaxis adherence and bleeding using a tailored, frequency-escalated approach: The Canadian Hemophilia Primary Prophylaxis Study.

Background: Standard of care for persons with severe hemophilia A includes regular replacement of factor VIII (FVIII). Prophylaxis regimens using standard half-life (SHL) FVIII concentrates, while effective, are costly and require frequent intravenous infusions.

Aim: This study evaluated the adherence of 56 boys with severe hemophilia A to tailored, frequency-escalated prophylaxis with an SHL recombinant FVIII concentrate.

Measuring the impact of changing from standard half-life (SHL) to extended half-life (EHL) FVIII prophylaxis on health-related quality of life (HRQoL) in boys with moderate/severe haemophilia A: Lessons learned with the CHO-KLAT tool.

Introduction: In many countries, there is a shift from standard half-life (SHL) to extended half-life (EHL) clotting factor concentrates (CFCs).

Aim: To describe the experience of switching from SHL to an EHL FVIII CFC and the impact of this on frequency of infusions, factor consumption, bleeding rates and HRQoL using the Canadian Hemophilia Kids' Life Assessment Tool (CHO-KLAT).

Methods: A retrospective chart review was conducted at a single haemophilia treatment centre in 2018 that included boys (ages: 4-18 years) with moderate/severe haemophilia A, without inhibitors, who switched from a SHL to an EHL FVIII CFC in the previous 2 years and for whom HRQoL data were available.

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.

Tailored frequency-escalated primary prophylaxis for severe haemophilia A: results of the 16-year Canadian Hemophilia Prophylaxis Study longitudinal cohort.

Background: Severe haemophilia A has high morbidity, and treatment, while effective, is very expensive. We report the 16-year follow-up of the Canadian Hemophilia Prophylaxis Study, which examined the effectiveness of tailored frequency-escalated primary prophylaxis with a focus on health outcomes within the domains of body structures and functions, and activities and participation (according to the WHO International Classification of Functioning, Disability and Health [WHO-ICF] framework) and a view to reducing consumption of costly clotting factor, which accounts for more than 90% of the cost of care of severe haemophilia.

Methods: In this longitudinal study, boys with severe haemophilia A from 12 Canadian centres were enrolled at age 1·0-2·5 years.