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Background: Most patients with a pediatric rheumatic disease are at increased risk of influenza due to immunosuppressive medication use. Despite initial quality improvement efforts, our influenza vaccination rate plateaued at 72%, which prompted a survey of patients and families to assess provider vaccine recommendations, influenza knowledge, and barriers to influenza vaccination. Methods: Patients on immunosuppressive medication or their parent were eligible to complete a survey between July 2019 and January 2020. Survey questions assessed demographics, rheumatology diagnosis, immunosuppressive medication(s), influenza vaccination recommendation, patient/parent influenza knowledge, and barriers to influenza vaccination. Influenza vaccination rates for immunosuppressed patients were acquired each influenza season from 2015–2020 and tracked on a control chart. Results: Of the 226 completed surveys, 145 (64.2%) were completed by parents and 81 (35.8%) by patients. The majority (85%) reported the influenza vaccine was recommended. The most common reasons for not receiving the influenza vaccine included: worry about disease flare (25.6%), concern the vaccine will cause influenza (25.6%), and lack of vaccine effectiveness (20.5%). Parents (40.9%) were more worried about disease flare compared to patients (17%; p = 0.024). Most respondents were able to correctly answer fever, cough and/or congestion as the most common symptoms of influenza; however, 23% answered gastrointestinal symptoms and 10.2% joint swelling. Most respondents (95.1%) were aware that immunosuppressive medication increases risk of infection. The average weekly influenza vaccination rate for the 2019–2020 flu season was 85.5%, which increased from 72.0% the previous year. Parents with higher education status were more likely to have their child receive the influenza vaccine compared to parents with less education. Conclusions: This survey indicates that respondents understand the potential severity of influenza and the increased risk of infection due to immunosuppressive medication use; however, many inaccurately identified the most common symptoms of influenza and also reported misconceptions of influenza vaccine risks. The barriers identified in this survey will help drive future improvement efforts to increase influenza vaccination rates in this high-risk population. [ABSTRACT FROM AUTHOR]

Background: Behçet disease (BD) is a rare disease in childhood and its uveitis may lead to blindness if not properly treated. Objectives: We aim to describe a cohort of paediatric BD patients with uveitis. Design: This is a multicentric retrospective study. Methods: Six paediatric rheumatology units in Italy were involved including children with a diagnosis of paediatric BD according to the International Criteria for BD Criteria and/or to the International Study Group Criteria for BD, or Paediatric BD classification criteria if they had uveitis. Demographic, laboratory and clinical data were collected and followed up to March 2023. Ocular characteristics and treatment response were assessed according to Standardization Uveitis Nomenclature. Results: Among the 97 children with BD followed, 33 (34%) had uveitis (22 males, 66.7%). The median age at onset of BD and uveitis were, respectively, 11.5 years (2.5–17.1) and 11 years (3–17.3). Uveitis preceded BD diagnosis in 18 children (54.5%). Seventeen children had HLA B51 positivity (51.5%). Uveitis was bilateral in 25 (75.8%), and panuveitis in 16 (48.5%). All the patients received at least 1 systemic treatment for uveitis: 25 adalimumab, 2 tocilizumab, 1 abatacept, 3 infliximab, 4 azathioprine, 1 methotrexate and 1 corticosteroid. The remission was achieved with 30/35 treatments (85.7%) after a median time of 8 months (6–24). Six children had a relapse in therapy after the achievement of remission (20%). Fourteen patients stopped the therapy for persistent remission, but 5 relapsed (35.7%) after a median time of 9 months (range 1–48). Conclusion: Uveitis in BD is a sight-threatening condition, and it is more frequently a panuveitis. Biologic treatments seem to be often required to control ocular inflammation. [ABSTRACT FROM AUTHOR]

Introduction: Although familial Mediterranean fever (FMF) is a relevant disease in countries surrounding the Mediterranean Sea, there are still few reports from Italy. Methods: We retrospectively evaluated patients with FMF diagnosed according to the EuroFever/PRINTO classification criteria in three pediatric rheumatology referral centers in central-southern Italy. Logistic regression analysis assessed the associations between age at disease onset and symptoms. Results: Overall, 48 patients were enrolled (28 females, 20 males), with a median age at onset of 3.3 [3.1] years, and a median follow-up period of 5.1 [10.8] years. The most common MEFV genotype was M694V/- (11 patients, 22.9%), followed by M694V/M694V (6 patients, 12.5%). At onset, recurrent fever was observed in 47 patients (97.9%), with a median time between attacks of 18 [11] days. Overall, recurrent fever was observed in all patients, abdominal pain in 44 (91.7%), and chest pain in 18 (37.5%). At the last follow-up visit, 24 patients were on colchicine (50%), 2 on biologic (4.2%), and 6 on both (12.5%). Canakinumab was the most used biologic drug, in 6 (12.5%) patients. MEFV genotype was associated with disease severity (p = 0.007) and the use of a biological drug (p = 0.01). FMF prevalence in the Abruzzo region was found highly than expected (at least 1:45,000). Differently, we found a relevant gap among FMF patients expected and observed in the Apulia and Sicily regions. Conclusions: FMF is a relevant issue in central-southern Italy. A large epidemiologic study should be performed to better define its prevalence in the country. Key Points • Italian children with familial Mediterranean fever tend to have an early age of onset, primarily manifesting with recurrent fever and characteristic associated symptoms. • Many MEFV gene variants are present in Italian children with familial Mediterranean fever, and these patients are most often heterozygous, exhibiting a mild to moderate phenotype. • The prevalence of familial Mediterranean fever in Italy is still unknown but recently estimated to be around 1:60,000, probably higher in central and southern Italy. • According to our cohort, the prevalence of FMF in the Abruzzo region is at least 1:45,000, higher than expected. Differently, we found lower prevalence rates of the disease in Apulia and Sicily. [ABSTRACT FROM AUTHOR]

Uveitis encompasses multiple different conditions that are all characterized by intra-ocular inflammation. Uveitis occurs in the context of many different rheumatological conditions and carries a substantial risk to vision. Uveitis can develop both at the early stages of rheumatic diseases, sometimes even preceding other clinical features, and at later stages of disease. Uveitis can also occur as either a direct or an indirect complication of therapies used to treat patients with rheumatic disease. Conversely, patients with uveitis of non-rheumatic aetiology sometimes require immunosuppression, a treatment option that is not readily accessible to ophthalmologists. Thus, collaborative working between rheumatologists and ophthalmologists is critical for optimal management of patients with uveitis. This Review is written with rheumatologists in mind, to assist in the care of patients with uveitis. We collate and summarize the latest evidence and best practice in the diagnosis, management and prognostication of uveitis, including future trends and research priorities. This Review provides an overview of the pathogenesis, classification and diagnosis of and treatment strategies for adult and paediatric rheumatology patients with uveitis. The authors highlight the importance of collaborations between ophthalmologists and rheumatologists to provide optimal treatment of uveitis, improve patient care and enhance future research. Key points: Uveitis accounts for up to 10% of visual impairment globally, highlighting the need for prompt recognition and management. TNF inhibitors have significantly improved outcomes in both adult and paediatric uveitis, with the strongest evidence for adalimumab. An exception is etanercept, which worsens uveitis. The second-line biologic option for uveitis is IL-6 inhibitors, with intravenous tocilizumab having the most substantial supporting evidence. Collaborative work between rheumatologists and ophthalmologists is critical for optimal management of uveitis. More trials are needed in uveitis, as there is a wide array of novel molecules available for systemic rheumatic diseases that should be explored for therapeutic use in uveitis. [ABSTRACT FROM AUTHOR]

Objectives: Although treatments for juvenile idiopathic arthritis (JIA) have seen considerable advancements, there remains a lack of clear guidelines on withdrawing medications. This study aimed to investigate the current strategies for discontinuing non-systemic JIA treatment. Methods: A web-based questionnaire was distributed to members of the Pediatric Rheumatology Association of Japan. Results: According to 126 responses, the most significant factors influencing JIA treatment tapering were the duration of clinically inactive disease, medication toxicity, and a history of arthritis flares. Respondents were often cautious about discontinuing medication if symptoms, e.g. 'morning stiffness' or 'intermittent joint pain', persisted. Among subtypes, oligoarticular JIA was more amenable to treatment tapering, whereas rheumatoid factor–positive polyarticular JIA proved less amenable. Most respondents started medication tapering after a continuous clinical inactive duration exceeding 12 months, and >50% of them required >6 months to achieve treatment discontinuation. Additionally, 40% of the respondents consistently underwent imaging before treatment tapering. Conclusions: The relative risks of treatment continuation and withdrawal should be considered, and decisions should be made accordingly. To obtain improved understanding of and more robust evidence for the optimal strategies for safely discontinuing JIA treatment, it is crucial to continue investigations including long-term outcomes. [ABSTRACT FROM AUTHOR]

Objective: This study aims to assess current diagnostic and management for systemic Juvenile Idiopathic Arthritis (sJIA) among physicians, evaluate the challenges encountered in diagnosis and treatment, and identify the educational needs and professional development engagements of physicians managing sJIA. Methods: A nationwide survey was conducted from November 2023 to March 2024 across tertiary and secondary pediatric and general hospitals in China. The survey targeted physicians with at least three years of specialty experience, resulting in 310 valid responses from 25 provinces, autonomous regions, and municipalities. The survey collected data on diagnostic practices, treatment approaches, and professional development related to sJIA. Data collection was facilitated through WeChat, and statistical analysis was performed using descriptive statistics. Ethical approval was obtained from the Ethics Committee of Beijing Children's Hospital, with informed consent provided electronically by participants. Results: The survey indicated that all physicians encountered suspected or confirmed cases of sJIA, highlighting its prevalence and the diagnostic challenges associated. Regarding diagnostic standards, 53.9% of physicians used the "Consensus on the Diagnosis and Treatment of sJIA and Macrophage Activation Syndrome," 18.1% followed the International League of Associations for Rheumatology (ILAR) standards, and 24.8% adhered to the Pediatric Rheumatology International Trials Organization (PRINTO) standards. In treatment strategies, glucocorticoids and IL-6 receptor monoclonal antibodies were extensively used, with the latter receiving "excellent" and "satisfactory" ratings of 46.5% and 36.1%, respectively, demonstrating high efficacy and acceptance. Main challenges included high treatment costs, complexity of diagnosis, patient compliance issues, and potential long-term side effects of biologics. Additionally, 126 doctors (40.7%) actively participated in more than three academic conferences or systematic learning courses related to sJIA, indicating a strong demand for ongoing education, particularly in new treatment developments and diagnostic skills. Conclusion: The findings emphasize the necessity for standardized diagnosis and customized treatment plans tailored to patient-specific conditions in managing sJIA. Key Points • The survey highlights the prevalence and clinical challenges of sJIA among physicians, emphasizing the importance of vigilant diagnosis, multi-system involvement, and differential diagnosis to improve treatment outcomes and patient quality of life. [ABSTRACT FROM AUTHOR]

Artificial intelligence algorithms, with roots extending into the past but experiencing a resurgence and evolution in recent years due to their superiority over traditional methods and contributions to human capabilities, have begun to make their presence felt in the field of pediatric rheumatology. In the ever-evolving realm of pediatric rheumatology, there have been incremental advancements supported by artificial intelligence in understanding and stratifying diseases, developing biomarkers, refining visual analyses, and facilitating individualized treatment approaches. However, like in many other domains, these strides have yet to gain clinical applicability and validation, and ethical issues remain unresolved. Furthermore, mastering different and novel terminologies appears challenging for clinicians. This review aims to provide a comprehensive overview of the current literature, categorizing algorithms and their applications, thus offering a fresh perspective on the nascent relationship between pediatric rheumatology and artificial intelligence, highlighting both its advancements and constraints. [ABSTRACT FROM AUTHOR]

Objectives: To identify an optimal pediatric musculoskeletal ultrasound (MSUS) protocol for the detection of knee arthritis in patients with juvenile idiopathic arthritis (JIA) including a comparison with existing protocols. Secondary aims were to correlate MSUS-identified B-Mode (BM) and Power Doppler-Mode (PD) synovitis with clinical findings. Methods: Consecutive JIA patients with confirmed knee arthritis after clinical examination underwent a thorough MSUS study protocol which included views identified and consented by the Pediatric Rheumatology european Society (PReS) Imaging Working Party for the detection of synovitis. In total eight views including measurement of the suprapatellar recess were included. Scoring of synovitis followed the pediatric OMERACT criteria (BM and PD severity grading 0 to 3). Interobserver reliability of BM and PD was tested before study begin. Previously published MSUS protocols for knee synovitis were also identified from the literature and their scan protocols compared to identify differences in sensitivity for synovitis according to the number and specific type of views included. Finally, a clinically applicable MSUS protocol for knee synovitis could be proposed. Results: In 114 patients with clinically active knee inflammation, BM positivity (grading ≥ 1) was most frequently detected in the suprapatellar longitudinal and transverse scans performed in any positioning (frequency 97–99% in suprapatellar longitudinal in 30° or neutral respectively). PD positivity was however higher in these views performed in 30° flexion compared to neutral. Intrasynovial PD positivity (grading ≥ 1) was most frequently detected in the lateral parapatellar (69%, sensitivity 0.68, specificity 0.98), medial parapatellar (frequency 67%, sensitivity 0.67, specificity 1.0), the longitudinal lateral (68%, sensitivity 0.67, specificity 0.98) and suprapatellar transverse in 30° (frequency 64%, sensitivity 0.64, specificity 1.0). A combination of five views was the most sensitive for BM and PD synovitis. The suprapatellar recess size was analyzed by age and gender. For each group, the recess was wider in knees with arthritis than without (p < 0.001). Interobserver reliability of BM and PD positivity showed 85% agreement, with kappa 0.74 (very good). Three published studies with knee synovitis MSUS protocols were identified, which included a range of 1–3 views. Evaluation of the sensitivity of positive PD findings of each of these protocols reached a range of 53–83%; the highest sensitivity (91%) was achieved with the 5 views as identified by this study. These five views were therefore combined to form the Pediatric Internationally agreed Ultrasound (PIUS) knee protocol. Conclusion: BM and PD positivity reliably correlated with the identification of pathological findings in knees of patients with JIA. From an internationally agreed protocol of eight images, a combination of five showed the greatest sensitivity for synovitis. This protocol, termed 'PIUS-Knee' performed well when compared to existing protocols. Key messages: • Synovitis detected using B-Mode and Doppler-Mode Musculoskeletal Ultrasound (MSUS) correlated strongly with clinical examination findings. • A combination of five specific MSUS views achieved the most sensitive B-Mode and Doppler-Mode protocol for knee synovitis. • This optimized knee examination ultrasound protocol termed PIUS-Knee (Pediatric Internationally Agreed Ultrasound) has high sensitivity for detecting intrasynovial hypervascularity. [ABSTRACT FROM AUTHOR]

BackgroundMethodsResultsConclusionChildhood chronic non-infectious uveitis (cNIU) is a challenging disease whose differential diagnosis may include demyelinating diseases. We aim to describe the white matter abnormalities (WMA) in brain MRI in childhood cNIU.This is a multicentric retrospective study involving children with cNIU followed at the Pediatric rheumatology units of Florence and the ophthalmology department of the UMC Utrecht who underwent a Brain MRI. Demographic, clinical, laboratory and imaging information was collected. The presence of WMA was considered as the main outcomeData of 123 children was collected (66 from Utrecht and 57 from Florence), of whom 51 were males, with a median uveitis onset at age 9 years (range 3–16) for the UMC Utrecht and 8.75 years (range 1.6–15.1) for Florence. We evaluated 39 children with anterior uveitis, 35 with intermediate uveitis, 1 with posterior uveitis and 48 with panuveitis. Uveitis was idiopathic in 105. On brain MRI, 33 patients (26.8%) showed WMA, and most of them had non-anterior uveitis (72.8%). WMA were more frequent in males (χ2 5.25, p = 0.02). No difference in underlying systemic disease was seen between patients with and without WMA, but 40% of patients with TINU and 27.3% of patients with idiopathic uveitis showed WMA. None of the patients received a diagnosis of demyelinating disease during follow-up.As WMA were found in 26.8% of patients who were screened in our cohort, brain MRI might be useful in cNIU. However, the clinical significance of these WMA could not be determined in this study. An interdisciplinary evaluation is necessary to assess the appropriate management, and a longer follow up is necessary to determine the prognosis of some of these WMA. [ABSTRACT FROM AUTHOR]

Background: Methotrexate (MTX) intolerance in juvenile idiopathic arthritis (JIA) frequently leads to discontinuation due to anticipatory and associative gastrointestinal symptoms. Eye Movement Desensitization and Reprocessing (EMDR) has successfully been used in MTX intolerance, with lasting effects but frequently diminishing efficacy over time. BLAST (bi-lateral alternating stimulation tactile) wristbands utilize a similar process to EMDR. The aim of this study was to determine if utilization of BLAST wristbands could improve and prolong the effect of EMDR on patients with MTX intolerance. Methods: Consecutive patients admitted to the German Center for Pediatric and Adolescent Rheumatology with JIA and signs of MTX intolerance from October 2016 until March 2024 were included in this study. Treatment was performed using an adapted 8 phase EMDR protocol implementing BAST wristbands. Initial patients were treated with EMDR, subsequent patients additionally with BLAST wristbands. Health-related quality of live was determined using the PedsQL. Measurements of MISS (Methotrexate Intolerance Severity Score) and PedsQL were taken at 4 time points: directly before and after (MISS only) treatment, as well as 4 and 12 months after treatment. Changes in MISS and PedsQL were compared using descriptive statistics and repeated measures ANOVA. Results: 87 patients with MTX intolerance were included, 53 in group 1 without BLAST wristbands and 34 in group 2 which were concurrently treated with BLAST wristbands. All patients reported marked improvement of MTX intolerance symptoms (mean MISS score group 1: 15.0 ± 5.5 before treatment, 1.3 ± 1.5 after treatment, group 2: 16.8 ± 5.6 and 2.5 ± 2.5, respectively). After 4 and 12 months, MISS in group 1 was 8.1 ± 7.1 and 8.7 ± 8.4, and in group 2: 7.1 ± 6.3 and 6.5 ± 5.7. A repeated measures ANOVA showed a significant difference between the MISS results over time (F(3,114) = 64.6, p < 0.001), and also demonstrated a significant difference of the PedsQL results between the two groups over time (F(2,64) = 8.9, p < 0.001). Conclusion: Treatment with Eye Movement Desensitization and Reprocessing (EMDR) could present an effective treatment of MTX intolerance, and using BLAST wristbands, further potential improvement is possible. [ABSTRACT FROM AUTHOR]

Objectives: To identify an optimal pediatric musculoskeletal ultrasound (MSUS) protocol for the detection of knee arthritis in patients with juvenile idiopathic arthritis (JIA) including a comparison with existing protocols. Secondary aims were to correlate MSUS-identified B-Mode (BM) and Power Doppler-Mode (PD) synovitis with clinical findings. Methods: Consecutive JIA patients with confirmed knee arthritis after clinical examination underwent a thorough MSUS study protocol which included views identified and consented by the Pediatric Rheumatology european Society (PReS) Imaging Working Party for the detection of synovitis. In total eight views including measurement of the suprapatellar recess were included. Scoring of synovitis followed the pediatric OMERACT criteria (BM and PD severity grading 0 to 3). Interobserver reliability of BM and PD was tested before study begin. Previously published MSUS protocols for knee synovitis were also identified from the literature and their scan protocols compared to identify differences in sensitivity for synovitis according to the number and specific type of views included. Finally, a clinically applicable MSUS protocol for knee synovitis could be proposed. Results: In 114 patients with clinically active knee inflammation, BM positivity (grading ≥ 1) was most frequently detected in the suprapatellar longitudinal and transverse scans performed in any positioning (frequency 97–99% in suprapatellar longitudinal in 30° or neutral respectively). PD positivity was however higher in these views performed in 30° flexion compared to neutral. Intrasynovial PD positivity (grading ≥ 1) was most frequently detected in the lateral parapatellar (69%, sensitivity 0.68, specificity 0.98), medial parapatellar (frequency 67%, sensitivity 0.67, specificity 1.0), the longitudinal lateral (68%, sensitivity 0.67, specificity 0.98) and suprapatellar transverse in 30° (frequency 64%, sensitivity 0.64, specificity 1.0). A combination of five views was the most sensitive for BM and PD synovitis. The suprapatellar recess size was analyzed by age and gender. For each group, the recess was wider in knees with arthritis than without (p < 0.001). Interobserver reliability of BM and PD positivity showed 85% agreement, with kappa 0.74 (very good). Three published studies with knee synovitis MSUS protocols were identified, which included a range of 1–3 views. Evaluation of the sensitivity of positive PD findings of each of these protocols reached a range of 53–83%; the highest sensitivity (91%) was achieved with the 5 views as identified by this study. These five views were therefore combined to form the Pediatric Internationally agreed Ultrasound (PIUS) knee protocol. Conclusion: BM and PD positivity reliably correlated with the identification of pathological findings in knees of patients with JIA. From an internationally agreed protocol of eight images, a combination of five showed the greatest sensitivity for synovitis. This protocol, termed 'PIUS-Knee' performed well when compared to existing protocols. Key messages: • Synovitis detected using B-Mode and Doppler-Mode Musculoskeletal Ultrasound (MSUS) correlated strongly with clinical examination findings. • A combination of five specific MSUS views achieved the most sensitive B-Mode and Doppler-Mode protocol for knee synovitis. • This optimized knee examination ultrasound protocol termed PIUS-Knee (Pediatric Internationally Agreed Ultrasound) has high sensitivity for detecting intrasynovial hypervascularity. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to evaluate the effectiveness of a novel e-learning module in teaching the physical exam of the temporomandibular joint (TMJ) in Juvenile idiopathic arthritis (JIA.). Methods: An e-learning module was developed to convey the TMJ physical examination maneuvers that are considered to be best practice in JIA. Pediatric rheumatology fellows were randomized to two groups. One group received an article describing the physical examination skills while the second group received both the article and module. All participants completed a written pre-test, an in-person objective structured clinical examination (OSCE), a written post-test, and a follow-up survey. Results: Twenty-two pediatric rheumatology fellows enrolled, with 11 per group. Written test: The two groups improved equally, although there was a trend toward improved defining of maximal incisal opening (MIO) in the module group. OSCE: The mean OSCE score was 11.1 (SD 3.3) in the article group and 13.5 (SD 1.9) in the module group (p = 0.06); significant differences were seen in measuring MIO (p = 0.01), calculating maximal unassisted mouth opening (MUMO; p = 0.01), and assessment of facial symmetry (p = 0.03), all favoring the module. Enjoyment scores in the module group were higher than in the article group (mean 7.7/10 vs. 5.9/10, p = 0.02). The two groups self-reported performing TMJ examinations at comparable rates three months following the intervention. Conclusions: The study demonstrated that a formalized educational program improved knowledge of the physical exam of the TMJ in JIA. Learners viewing the module were more adept at obtaining quantitative TMJ measurements. [ABSTRACT FROM AUTHOR]

ABSTRACT Background/Objectives Methods Results Conclusions Integrated care models, like combined rheumatology/dermatology clinics (RDCs), facilitate efficient coordination between specialists and provide comprehensive care. Given the limited literature on pediatric RDC logistics, outcomes, benefits and, challenges, we comprehensively characterized our patient cohort at the UCSF Benioff Children's Hospital RDC and surveyed pediatric dermatologists participating in RDCs.We retrospectively reviewed 71 patients new to the UCSF Pediatric RDC between September 2017 and September 2023. A survey was distributed in 2024 to 17 dermatologists in North America, each representing a unique pediatric RDC.69% of patients (49/71) were female. Seventeen (24%) presented without a known diagnosis; the first RDC visit established a diagnosis for 7 of them (41%). Of patients with a previously established diagnosis, initial RDC evaluation confirmed it in 52 (96%) and revised it for 2 (4%). The most encountered diagnoses were linear morphea (33%), lupus (23%), and psoriasis (13%). New systemic therapy was prescribed for 23% of patients, and additional work‐up was recommended via skin biopsy (8%) and imaging (28%). Survey results revealed all pediatric RDCs include trainees, but only 59% (10/17) receive administrative support. All agreed that RDCs are valuable for patient care and most (15/17, 88%) felt that the RDC was a valuable use of their time.Pediatric RDCs are valuable for consensus diagnosis, streamlined evaluation, and management of complex patients. Though clinical and administrative support for RDCs is generally poor, RDCs are valuable to patients, a good use of time for clinicians, and offer educational opportunities for team members. [ABSTRACT FROM AUTHOR]

Objective: Systemic lupus erythematosus (SLE) constitutes an autoimmune disorder with potential involvement of the gastrointestinal system (GIS). Our objective was to assess the gastrointestinal (GI) manifestations in patients diagnosed with childhood onset SLE. Methods: The study cohort consisted of 123 patients with childhood onset-SLE and GIS involvement from 16 referral departments of pediatric rheumatology. All participants met the Systemic Lupus International Collaborating Clinics criteria. Results: Out of 123 patients, 78 (63.4%) exhibited GIS involvement at the initial SLE diagnosis, whereas the remaining 45 (36.6%) developed GI symptoms after a median duration of 12 (3–140) months. Eighty-two (66.7%) individuals experienced symptoms related to the GI tract, whereas the remaining patients received a diagnosis of GI involvement through laboratory assessments. The predominant initial GIS involvement symptom was abdominal pain, observed in 77 (62.6%) patients, followed by elevated hepatic transaminases in 70 (56.9%), hepatomegaly in 40 (32.5%), diarrhea in 26 (21.1%), and jaundice in 11 (8.9%) patients. The GIS involvement was associated with SLE in 82 (78.6%), while it resulted from drug-related adverse events in 35 (28.5%) patients or comorbidities in 6 (0.5%) patients. Conclusion: GIS involvement should be considered in all childhood onset-SLE patients, especially in the presence of suggestive symptoms or elevated hepatic transaminases. It is also crucial to consider SLE in the differential diagnosis of GIS manifestations in children. Apart from GIS involvement directly associated with SLE, adverse events of drugs should be kept in mind. [ABSTRACT FROM AUTHOR]

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) are the most common autoinflammatory syndromes in children. This study aimed to evaluate the clinical and laboratory parameters that may predict colchicine responsiveness.This retrospective, multicenter, cross-sectional study involved nine pediatric rheumatology centers from our country., The patients diagnosed with PFAPA were compared on the basis of their responses to colchicine. In the 806 (42.3% female 57.7% male) patients, the most common clinical findings were fever (100%), exudative tonsillitis (86.5%), pharyngitis (80.9%), and aphthous stomatitis (50.5%). The mean attack frequency was 13.5 ± 6.8 attacks per year lasting for a mean of 3.9 ± 1.1 days. Colchicine treatment was attempted in 519 (64.4%) patients, with 419 (80.7%) showing a favorable response. In patients who underwent MEFV gene analysis (70.8%), the most common variant was M694V heterozygous (16.8%). The presence of pharyngitis (p = 0.03, 95% CI 0.885 to 0.994), the presence of arthralgia (p = 0.04, 95% CI 0.169 to 0.958), and having more frequent attacks (p = 0.001, 95% CI 0.028 to 0.748) were found to be associated with colchicine unresponsiveness, whereas the carriage of the M694V variant (p = 0.001, 95% CI 0.065 to 0.242) was associated with colchicine responsiveness. Conclusion: This study identified the presence of pharyngitis, arthralgia, and increased attack frequency in patients with PFAPA as factors predicting colchicine unresponsiveness, whereas the carriage of the M694V variant emerged as a predictor of colchicine responsiveness. Predicting colchicine response at disease onset may facilitate a more effective management of PFAPA. What is Known: • Colchicine treatment can be used in the prophylaxis of PFAPA disease. • Having the MEFV variant is the most commonly known factor in predicting response to colchicine. What is New: • The presence of pharyngitis or arthralgia, and more frequent attacks in PFAPA disease were found to be independently associated with colchicine unresponsiveness. • Carrying the M694V variant was identified as the sole factor predicting colchicine responsiveness. [ABSTRACT FROM AUTHOR]

Purpose of Review: Childhood-onset systemic lupus erythematosus (cSLE) is a severe and potentially life-threatening chronic autoimmune disease. cSLE is more aggressive and has poorer outcomes than adult-onset disease. The global burden of cSLE is poorly understood, with most publications on cSLE originating from high-resourced settings. The reports from less resourced settings indicate high morbidity and mortality in these populations. Recent Findings: In this article, we review the disparities in global access to rheumatology care and research for patients with cSLE. We highlight recent cSLE advances from all regions of the globe. We describe current obstacles to cSLE clinical care and research in all settings. Finally, we propose a path forward for high quality, equitable and accessible care to individuals with cSLE everywhere. Summary: Individuals with cSLE are at risk for morbidity and death, yet patients worldwide face challenges to adequate access to care and research. Sustained, collaborative efforts are needed to create pathways to improve care and outcomes for these patients. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to reveal the clinical findings, treatment options, organ involvement and severity of childhood-onset systemic lupus erythematosus (cSLE) patients followed in a tertiary pediatric rheumatology center and to better understand this disease. Materials and Methods: Thirty-seven patients with cSLE diagnosed according to the classification criteria between 2019 and 2024 were included in the study. Results: The median age at the diagnosis was 13.8 (IQR: 10.6-16.1) years. The most common finding was acute/subacute lupus rash in 62.2% of the patients, while other common findings included alopecia, photosensitivity, and arthritis, with a prevalence rate of 54.1%. Sixteen (43.2%) patients had renal involvement. Fifteen (40.5%) of them had biopsy-proven lupus nephritis. Twenty percent of the patients had class 1, 13.3% class 2, 13.3% class 3, 40% class 4, and 20% class 5 nephritis. The two most commonly used agents were hydroxychloroquine (97.3%) and mycophenolate mofetil (51.4%). The rate of steroid use was 81%. The proportion of patients receiving pulse methylprednisolone was 32.4%. The median baseline Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) score for participants was 9.5 (IQR: 6-15.5), while the median final visit SLEDAI-2K score was 2 (IQR: 0-2). There was a difference between the last visit and baseline SLEDAI-2K scores (p<0.001). Conclusion: This article presents a comprehensive analysis of clinical and laboratory findings, disease activity scores, and disease damage indices of children with cSLE in a tertiary referral center. Additionally, the patient's last visit growth parameters are included in the study for a more holistic view of the patient's condition. [ABSTRACT FROM AUTHOR]

The diagnosis and management of neurosarcoidosis (NS) in pediatric patients remain challenging, with limited case documentation to guide clinicians. Most existing reports focus on initial presentations. This study aimed to outline the clinical features, management, and medium-term outcomes of pediatric NS In this retrospective, multicentric, observational study, we collected data from pediatric patients followed in French pediatric rheumatology centers with a diagnosis of NS between January 2001 and June 2023. We identified 11 patients diagnosed with NS, comprising eight girls and three boys. The mean age at diagnosis of sarcoidosis was 10 (5 to 15) years, and the mean age of diagnosis of NS was 11.5 (5 to 17) years. Predominant neurological symptoms included headache (nine of 11 patients), papilledema (6 of 11 patients), facial palsy (two patients), seizures (one patient), and motor deficit (two patients). Nine of 11 patients had eye involvement, which consisted of granulomatous and bilateral uveitis. All patients exhibited meningitis, with cerebrospinal fluid white blood cell counts ranging from 6 to 70 cells/mm3. Six individuals presented neurological abnormalities on imaging, detailed in this study. Treatment primarily involved corticosteroids, methotrexate, and tumor necrosis factor alpha (TNF-alpha) inhibitors. Biologics targeting TNF-alpha were necessary to achieve remission in eight of 11 patients. In two patients who did not receive this treatment initially, it was required later in the course of evolution. This study enhances understanding of the clinical course of pediatric NS and supports the early use of TNF-alpha biologics for improved management in affected children. [ABSTRACT FROM AUTHOR]

The antinuclear antibody (ANA) test is frequently used for the identification of patients who are at a high risk of developing autoimmune rheumatological diseases. The aim of this study is to evaluate the final diagnoses of patients applied to the pediatric rheumatology outpatient clinic with a positive ANA test result. In this study, the medical records of 283 children who had ANA positivity between January 2010 and January 2022 were evaluated retrospectively. All patients were younger than 18 years of age at diagnosis and were followed up in the pediatric rheumatology department for at least 6 months. The majority of the patients were females (69%), and the mean age was 9.9 ± 4.7 years. 94% of the ANA tests were requested in pediatric rheumatology outpatient clinics, and 6% in general pediatrics and other outpatient clinics. Arthritis was the most common reason for ANA testing (41.7%). Of the patients who had ANA positivity, 37% were diagnosed with juvenile idiopathic arthritis (JIA), 15% with connective tissue diseases, 10% with autoinflammatory disease, and 7% with vasculitides. Positivity at 1/320 and 1/640 titers were more common in the patients diagnosed with autoimmune connective tissue diseases or JIA compared to the patients without these diagnoses (P =.009 and P =.013, respectively). The ANA test should be judiciously requested by pediatric rheumatologists, especially in suspected cases of autoimmune rheumatic disorders and JIA patients to aid in classification. Indiscriminate use of the ANA test for screening may potentially misguide clinicians. [ABSTRACT FROM AUTHOR]

Abstract Background The prevalence of back and neck pain is common in children and adolescents, and in some series the numbers are alarming. Various risk factors have been identified, although some are controversial. Objective To determine the prevalence of neck and back pain in children and adolescents and to investigate the potential association with various risk factors identified in the literature. Methods We established a questionnaire targeting parents of children and adolescents aged between 6 and 18 years old in Tunisia. The recruitment of participants was done online using the Google Forms application. The questionnaire was divided into 2 parts: Part one collected the sociodemographics characteristics of the participants : age, gender, body mass index (BMI), exposure to passive smoking, the practice of a physical activity, puberty status and age at puberty if applicable, type and weight of the schoolbag, mean daily time spent on electronic devices, type of school the child attends (private/public), mode of transport from home to school, parental history of neck and/or back pain (mid or low back pain (LBP)), posture of the sitting position of the child, and finally whether the child reports neck/ back pain. The second part was aimed at parents whose child reported neck and/or back pain. We asked about the weekly frequency of neck/back pain, school absenteeism due to neck/back pain, whether it prevented the child from practicing physical activity and, finally, whether the child had ever seen a doctor/chiropractor/physiotherapist for their neck/back pain. Results Eighty-eight children (45 females, 43 males) were enrolled. Mean age was 11.9 ± 3.8 years [6–18]. Mean BMI was 18.8 ± 4.2 [15.8–35.5]. Thirty-four (38.6%) were pubescent. Twenty-five (28.4%) children were exposed to passive smoking. Parental history of spine pain was found in 58% of cases. A poor sitting position was noted in n = 49 (55.7%). Mean daily screen time was 88.3 ± 75.56 min [0-360]. Prevalence of spine pain was 44% (n = 39) distributed as follows: neck pain (n = 21, 23.8%), mid back pain (n = 15, 17%), LBP (n = 26, 29.5%), neck, mid back and low back pain (n = 4, 4.5%) Professional help seeking for spine pain in children was reported by 15 participants (25.3%). Among them, 20.3% visited a physician and 5% consulted a chiropractor or physiotherapist. A significant correlation was found between spine pain and age (p = 0.006) and BMI (p = 0.006). A significant association was found between LBP and exposure to passive smoking, puberty status, type of school bag and poor posture. A positive parental history of spine pain was significantly associated with the presence of spine pain in their children with p = 0.053 (neck pain), p = 0.013 (back pain) and p

Abstract Background Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF). Methods Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5. Results Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff’s alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey. Conclusions AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information.

Background: The prevalence of back and neck pain is common in children and adolescents, and in some series the numbers are alarming. Various risk factors have been identified, although some are controversial. Objective: To determine the prevalence of neck and back pain in children and adolescents and to investigate the potential association with various risk factors identified in the literature. Methods: We established a questionnaire targeting parents of children and adolescents aged between 6 and 18 years old in Tunisia. The recruitment of participants was done online using the Google Forms application. The questionnaire was divided into 2 parts: Part one collected the sociodemographics characteristics of the participants : age, gender, body mass index (BMI), exposure to passive smoking, the practice of a physical activity, puberty status and age at puberty if applicable, type and weight of the schoolbag, mean daily time spent on electronic devices, type of school the child attends (private/public), mode of transport from home to school, parental history of neck and/or back pain (mid or low back pain (LBP)), posture of the sitting position of the child, and finally whether the child reports neck/ back pain. The second part was aimed at parents whose child reported neck and/or back pain. We asked about the weekly frequency of neck/back pain, school absenteeism due to neck/back pain, whether it prevented the child from practicing physical activity and, finally, whether the child had ever seen a doctor/chiropractor/physiotherapist for their neck/back pain. Results: Eighty-eight children (45 females, 43 males) were enrolled. Mean age was 11.9 ± 3.8 years [6–18]. Mean BMI was 18.8 ± 4.2 [15.8–35.5]. Thirty-four (38.6%) were pubescent. Twenty-five (28.4%) children were exposed to passive smoking. Parental history of spine pain was found in 58% of cases. A poor sitting position was noted in n = 49 (55.7%). Mean daily screen time was 88.3 ± 75.56 min [0-360]. Prevalence of spine pain was 44% (n = 39) distributed as follows: neck pain (n = 21, 23.8%), mid back pain (n = 15, 17%), LBP (n = 26, 29.5%), neck, mid back and low back pain (n = 4, 4.5%) Professional help seeking for spine pain in children was reported by 15 participants (25.3%). Among them, 20.3% visited a physician and 5% consulted a chiropractor or physiotherapist. A significant correlation was found between spine pain and age (p = 0.006) and BMI (p = 0.006). A significant association was found between LBP and exposure to passive smoking, puberty status, type of school bag and poor posture. A positive parental history of spine pain was significantly associated with the presence of spine pain in their children with p = 0.053 (neck pain), p = 0.013 (back pain) and p < 0.00 (LBP) respectively. A significant association was found between the presence of spine pain and school absenteeism, participation in sports, consultation with a doctor or physiotherapist/chiropractor (p < 0.0001 respectively). Conclusion: The prevalence of spinal pain was frequent in our series. A positive parental history of spinal pain, a bad posture while sitting, passive smoking, use of backpack, higher age and higher BMI were potential associated factors. [ABSTRACT FROM AUTHOR]

Background/aim: Video pediatric gait, arms, leg, and spine (v-pGALS) is a virtual application of the pediatric gait, arms, leg, and spine (pGALS) examination performed by video. We aimed to verify the applicability, validity, and accuracy of the Turkish translation of v-pGALS in a large pediatric patient cohort. Materials and methods: Children aged 4-18 years seen between May and June 2022 were included. A hands-on physical examination and v-pGALS were performed. Demographics, active symptoms, physical examination findings, diagnosis, and v-pGALS findings were recorded. The acceptability of v-pGALS, in terms of additional distress and duration, was measured by the parent/patient using a visual analog scale (VAS). Results: 102 patients (median age 12.41 years) were included. Juvenile idiopathic arthritis (JIA) was the most common diagnosis. The median duration of v-pGALS was 7 min. An abnormal v-pGALS was identified in 25 patients while the hands-on physical examination was abnormal in 27 patients. Scoliosis and pes planus were missed in v-pGALS. Both children and parents gave a median VAS score of 0 for additional discomfort and duration. That is, the duration of v-pGALS was acceptable for =98% of the patients/parents, and =98% mentioned that it caused little/no discomfort. The sensitivity and specificity of v-pGALS were 92.6% and 100%, respectively, for the detection of musculoskeletal (MSK) abnormalities. Conclusion: The v-pGALS is an applicable, accurate, and practical tool for evaluating MSK problems in children. The Turkish translation was also conveniently acceptable. [ABSTRACT FROM AUTHOR]

Musculoskeletal ultrasound (MSUS) is a powerful tool of major importance in rheumatology. MSUS is ideally suited for the evaluation of pediatric patients because it is a safe technique with a high patient acceptability, it does not require sedation, and it is excellent for exploring multiple joints. It is also the most operator-dependent imaging modality, and assessing joints in patients with juvenile idiopathic arthritis (JIA) is particularly challenging due to the unique features of the growing skeleton. Years ago, MSUS was already extensively used to manage rheumatoid arthritis (RA), which allowed pediatric rheumatologists to apply the knowledge generated in adult studies. It was a good starting point to study the joints of healthy children and JIA patients. Luckily, there is increasing evidence regarding the possibilities of MSUS in the management of JIA patients, with recent definitions for synovitis, descriptions of the sonographic features of joints in healthy children, and a better understanding of the role of subclinical synovitis. This review highlights the differences in normality and in pathological findings between children and adults assessed by MSUS. Specifically, this provides a summary of the current information on characteristics, scores, and definitions that are frequently different between JIA and RA patients. Despite the existence of several unresolved questions in the field, the value that MSUS adds to clinical examination in JIA has already been demonstrated, and we believe that MSUS may be included in the near future in treatment to target strategies. [ABSTRACT FROM AUTHOR]

Objective To better understand the pathogenesis of juvenile dermatomyositis (JDM), we examined the effect of the cytokines type I interferons (IFN I) and JAK inhibitor drugs (JAKi) on gene expression in bioengineered pediatric skeletal muscle. Methods Myoblasts from three healthy pediatric donors were used to create three-dimensional skeletal muscle units termed myobundles. Myobundles were treated with IFN I, either IFNα or IFNβ. A subset of IFNβ-exposed myobundles was treated with JAKi tofacitinib or baricitinib. RNA sequencing analysis was performed on all myobundles. Results Seventy-six myobundles were analysed. Principal component analysis showed donor-specific clusters of gene expression across IFNα and IFNβ-exposed myobundles in a dose-dependent manner. Both cytokines upregulated interferon response and proinflammatory genes; however, IFNβ led to more significant upregulation. Key downregulated pathways involved oxidative phosphorylation, fatty acid metabolism and myogenesis genes. Addition of tofacitinib or baricitinib moderated the gene expression induced by IFNβ, with partial reversal of upregulated inflammatory and downregulated myogenesis pathways. Baricitinib altered genetic profiles more than tofacitinib. Conclusion IFNβ leads to more pro-inflammatory gene upregulation than IFNα, correlating to greater decrease in contractile protein gene expression and reduced contractile force. JAK inhibitors, baricitinib more so than tofacitinib, partially reverse IFN I-induced genetic changes. Increased IFN I exposure in healthy bioengineered skeletal muscle leads to IFN-inducible gene expression, inflammatory pathway enrichment, and myogenesis gene downregulation, consistent with what is observed in JDM. [ABSTRACT FROM AUTHOR]

Objectives: Our study aimed to evaluate the relationship of small joint involvement with demographic, clinical, and laboratory findings and to determine its possible effects on prognosis. Methods: This retrospective observational study was conducted in patients diagnosed with oligoarticular juvenile idiopathic arthritis (oJIA) in the paediatric rheumatology department of Ankara City Hospital between April 2009 and September 2022. The relationship between small joint involvement and demographic, clinical, and laboratory findings and prognosis was investigated by statistical methods with the data recorded from the medical records of oJIA patients. Results: Of the 198 patients diagnosed with oJIA, small joint involvement was observed in a total of 20 (10%) patients, 11 (5.5%) at the time of diagnosis, and 9 (4.5%) during the follow-up period. The frequency of small joint involvement in extended oJIA was significantly higher than in persistent oJIA (P = .001). Patients with small joint involvement had significantly higher erythrocyte sedimentation rate and C-reactive protein values at admission (P = .047, P = .038) and Juvenile Arthritis Disease Activity Score at 3, 6, and 12 months (P = .001, P = .001, P = .018). The need for conventional disease-modifying antirheumatic drugs and biologic disease-modifying antirheumatic drugs was significantly higher in patients with small joint involvement (P = .001, P = .001). Conclusions: oJIA patients with small joint involvement may have higher acute phase reactants at diagnosis, a more extended course and active disease in follow-up, and the need for treatment escalation. [ABSTRACT FROM AUTHOR]

The past 25 years have seen major novel developments in the field of paediatric rheumatology. The concept of autoinflammation was introduced to this field, and medicine more broadly, with studies of familial Mediterranean fever, the most common autoinflammatory disease globally. New data on the positive evolutionary selection of familial Mediterranean fever-associated genetic variants might be pertinent to mild gain-of-function variants reported in other disease-associated genes. Genetic studies have unveiled the complexity of human heritability to inflammation and flourishing data from rare monogenic disorders have contributed to a better understanding of general disease mechanisms in paediatric rheumatic conditions. Beyond genomics, the application of other 'omics' technologies, including transcriptomics, proteomics and metabolomics, has generated an enormous dataset that can be applied to the development of new therapies and in the practice of precision medicine. Novel biomarkers for monitoring disease activity and progression have also emerged. A surge in the development of targeted biologic therapies has led to durable remission and improved prognosis for many diseases that in the past caused major complications. Last but not least, the COVID-19 pandemic has affected paediatric rheumatology practice and has sparked new investigations into the link between viral infections and unregulated inflammatory responses in children. Paediatric rheumatology has seen many notable developments in the past 25 years, including the introduction of the concept of autoinflammation and a greater understanding of the genetics and pathogenesis of inflammatory diseases. In this Perspective, Ozen and Aksentijevich discuss how these and other discoveries have transformed the field and herald improvements in patient care. [ABSTRACT FROM AUTHOR]

Rituximab (RTX) is a chimeric monoclonal antibody that targets the CD20 antigen on B cells and is used in various autoimmune disorders. In this study, we aimed to measure the awareness of pediatric rheumatologists about the use of RTX through a survey. Between February and March 2023, a 42-question survey was sent via email to pediatric rheumatology specialists in Turkey. The participants were questioned for which diagnoses and system involvement they preferred to use RTX, which routine tests they performed, vaccination policy, and adverse events that occurred during or after infusion. Forty-one pediatric rheumatologists answered the survey. They prescribed RTX most frequently for systemic lupus erythematosus (87.8%) and ANCA-associated vasculitis (9.8%). Prior to the administration of RTX, 95% of clinicians checked renal and liver function tests, as well as immunoglobulin levels. The most frequently tested hepatitis markers before treatment were HBsAg and anti-HBs antibody (97.6%), while 85.4% of rheumatologists checked for anti-HCV. Clinicians (31.4%) reported that they postpone RTX infusion 2 weeks following an inactivated vaccine. Sixty-one percent of rheumatologists reported starting RTX treatment 1 month after live vaccines, while 26.8% waited 6 months. The most frequent adverse events were an allergic reaction during RTX infusion (65.9%), hypogammaglobulinemia (46.3%), and rash (36.6%). In the event of hypogammaglobulinemia after RTX treatment, physicians reported that they frequently (58.5%) continued RTX after intravenous immunoglobulin administration. Conclusions: RTX has become a common treatment option in pediatric rheumatology in recent years. Treatment management may vary between clinician such as vaccination and routine tests. What is Known: • During the course of rituximab therapy, clinicians should be attentive to specific considerations in pre-treatment, during administration, and in post-treatment patient monitoring. What is New: • There are differences in practice among clinicians in the management of RTX therapy. These practice disparities have the potential to impact the optimal course of treatment. • This study highlights that standardized guidelines are needed for RTX treatment in pediatric rheumatology, particularly for vaccination policies and routine tests. [ABSTRACT FROM AUTHOR]

Just under a decade ago, most children with genetic disorders received a phenotypic diagnosis, often by atlas matching. With advances in genomics (decoding of human genome, easy availability of genetic testing, and reduction in cost of tests), genotypic diagnosis is now a reality. Genetic diseases can lead to non-inflammatory arthritis that can mimic juvenile idiopathic arthritis (JIA). A small but growing number (as newer genes are discovered) of genetic diseases are being diagnosed in children with a seemingly inflammatory musculoskeletal diseases or connective tissue diseases. A high index of suspicion by the pediatrician is most important for early diagnosis of these genetic disorders. In a busy outpatient clinic, it is the atypical presentation of a disease in a child that suggests a possibility of underlying genetic autoinflammatory or autoimmune disease. Correct diagnosis helps the physician, child, parent, and community. [ABSTRACT FROM AUTHOR]

Background: Enthesitis-related arthritis (ERA) is a subtype of juvenile idiopathic arthritis with high disease burden. The objectives of this study were to explore the prevalence of HLA-B27, clinical characteristics, and treatment outcomes in children with ERA and compare the differences between HLA-B27 positive and negative patients. Methods: A retrospective cohort study at a pediatric rheumatology clinic in a tertiary referral hospital in Bangkok, Thailand, including ERA patients with at least 6 months of follow-up (July 2011-April 2022) was performed. Data were collected from medical records from diagnosis to recent follow-up, assessing disease activity and treatment outcomes, with an analysis comparing HLA-B27 positive and negative patients. Descriptive statistics were used for data analysis. Results: There were 59 ERA patients with mean age ± SD at diagnosis 11.2 ± 2.5 years, 53 males (89.8%), and positive HLA-B27 in 38 patients (64.4%). The HLA-B27 positive group had significantly higher levels of inflammatory markers at initial diagnosis (p = 0.001), lower baseline hemoglobin (p = 0.001) and hematocrit (p = 0.002), higher disease activity assessed by the Juvenile Spondyloarthritis Disease Activity score at 6 and 12 months of follow-up (p = 0.028 and 0.040, respectively), increased utilization of bridging systemic corticosteroids (60.5% vs. 14.3%, p = 0.001) and anti-TNF (39.5% vs. 9.5%, p = 0.018), and longer duration of methotrexate (median[IQR] 1.7[1.1–3.1] vs. 1.3[0.6–1.9] years, p = 0.040). The HLA-B27 negative group had more prevalent hip arthritis than the positive group at initial diagnosis (66.7% vs. 28.9%, p = 0.005) and during the course of the disease (71.4% vs. 36.8%, p = 0.011). Conclusion: Most of the ERA patients tested positive for HLA-B27. Throughout the follow-up period, these patients demonstrated greater disease activity, greater use of corticosteroids and anti-TNF, and longer duration of methotrexate to control the disease. Key points: • HLA-B27 was tested positive in nearly two-thirds of enthesitis-related arthritis (ERA) patients. • ERA patients with positive HLA-B27 had significantly higher levels of inflammatory markers with lower hemoglobin and hematocrit at initial diagnosis, increased disease activity assessed by the Juvenile Spondyloarthritis Disease Activity (JSpADA) score at 6 and 12 months of follow-up, greater utilization of bridging systemic corticosteroids and anti-TNF, and longer duration of methotrexate use. • ERA patients with negative HLA-B27 had more prevalent hip arthritis at initial diagnosis and during disease course. • Application of the Assessment of SpondyloArthritis international Society (ASAS) classification for adult spondyloarthritis in ERA patients who entered adulthood showed the predominance of peripheral spondyloarthritis in more than half of the patients. [ABSTRACT FROM AUTHOR]

Background: Juvenile Idiopathic Arthritis (JIA) is a complex autoimmune disease and the most common chronic rheumatological disease affecting children under the age of 16. The etiology of JIA remains poorly understood, but evidence suggests a significant genetic predisposition. Methods: We analyzed a Swedish cohort of 329 JIA patients and 728 healthy adult controls using the Illumina OmniExpress array for genotyping. HLA alleles were imputed from GWAS data using the SNP2HLA algorithm. Results: Case–control analysis yielded 12 SNPs with genome-wide significant association to JIA, all located on chromosome 6 within the MHC class II gene region. Notably, the top SNP (rs28421666) was located adjacent to HLA-DQA1 and HLA-DRB1. HLA-DRB1*08:01, HLA-DQA1*04:01, and HLA-DQB1*04:02 were the haplotypes most strongly associated with an increased risk of JIA in the overall cohort. When analyzing disease specific subtypes, these alleles were associated with oligoarthritis and RF-negative polyarthritis. Within the complex linkage disequilibrium of the HLA-DRB1-DQA1-DQB1 haplotype, our analysis suggests that HLA-DRB1*08 might be the primary allele linked to JIA susceptibility. The HLA-DRB1*11 allele group was also independently associated with JIA and specifically enriched in the oligoarthritis patient group. Additionally, our study revealed a significant correlation between antinuclear antibody (ANA) positivity and specific HLA alleles. The ANA-positive JIA group showed stronger associations with the HLA-DRB1-DQA1-DQB1 haplotype, HLA-DRB1*11, and HLA-DPB1*02, suggesting a potential connection between genetic factors and ANA production in JIA. Furthermore, logistic regression analysis reaffirmed the effects of HLA alleles, female sex, and lower age at onset on ANA positivity. Conclusions: This study identified distinct genetic associations between HLA alleles and JIA subtypes, particularly in ANA-positive patients. These findings contribute to a better understanding of the genetic basis of JIA and provide insights into the genetic control of autoantibody production in ANA-positive JIA patients. This may inform future classification and personalized treatment approaches for JIA, ultimately improving patient outcomes and management of this disease. [ABSTRACT FROM AUTHOR]

The transition from pediatric to adult care for patients with chronic disease is a vulnerable period, with risks of disengagement from care and subsequent complications of inadequately managed disease. This period comes at a time when there are many other transitions occurring in the young person's life, including changes to vocation, social supports, and to their physiology. The aim of the TRACER study is to assess the feasibility of conducting a multi-center, randomized-controlled trial of a virtual Transition Coach Intervention in youth transferring from pediatric to adult rheumatology care. Patients are being recruited at their last pediatric rheumatology visit from McMaster Children's Hospital and Children's Hospital, London Health Sciences Centre in Ontario, Canada. Participants are then randomized to standard of care or to eight transition coaching sessions, covering topics around health management, future planning, and self-advocacy. The primary outcomes of the study are to demonstrate protocol feasibility, including optimal recruitment and consent rates, ≥ 90% coaching session completion, and complete data collection with ≤ 5% missing data. Baseline demographics, transition readiness, global functional assessment, disease activity, and self-efficacy will be collected to characterize the study population. Recruitment has begun and is estimated to last 19 months. This study will inform the design of a robust, multi-centered, randomized-controlled study to investigate the impact of a virtual transition coaching program in supporting the physical, mental, and social well-being of youth with rheumatic disease transitioning into adult care. Clinical trial registration: ClinicalTrials.Gov protocol ID: 14499 [ABSTRACT FROM AUTHOR]

Background: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF). Methods: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5. Results: Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff's alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey. Conclusions: AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information. [ABSTRACT FROM AUTHOR]

Background: Determining the role of epigenetics in systemic juvenile idiopathic arthritis (SJIA) provides an opportunity to explore previously unrecognized disease pathways and new therapeutic targets. Aim: We aimed to identify the clinical significance of microRNAs (miRNA-26a, miRNA-223) in SJIA. Materials and methods: This cross-sectional study was conducted on a group of children with SJIA attending to pediatric rheumatology clinic, at Mansoura University Children's Hospital (MUCH) from December 2021 to November 2022. Patient demographics, and clinical, and laboratory data were collected with the measurement of microRNAs by quantitative real-time PCR. The Mann–Whitney, Kruskal–Wallis, and Spearman correlation tests were used for variable comparison and correlations, besides the receiver operating characteristic (ROC) curve for microRNAs disease activity and treatment non-response discrimination. Results: Forty patients were included in the study. On comparison of miRNA-26a, and miRNA-223 levels to the clinical, assessment measures, and laboratory features, miRNA-26a was statistically higher in cases with systemic manifestations versus those without. Similarly, it was higher in children who did not fulfill the Wallace criteria for inactive disease and the American College of Rheumatology (ACR) 70 criteria for treatment response. Meanwhile, miRNA-223 was not statistically different between cases regarding the studied parameters. The best cut-off value for systemic juvenile arthritis disease activity score-10 (sJADAS-10) and the ability of miRNA-26a, and miRNA-223 to discriminate disease activity and treatment non-response were determined by the (ROC) curve. Conclusion: The significant association of miRNA-26a with SJIA features points out that this molecule may be preferentially assessed in SJIA disease activity and treatment non-response discrimination. [ABSTRACT FROM AUTHOR]

Takayasu arteritis (TA) is a chronic granulomatous inflammatory disease affecting the aorta and its branches. Paediatric TA (pTA) may present from 6 months after birth till the adolescent age group. Genetics and pathogenesis of pTA are not fully understood. Earlier studies reported monogenic mutation in NOD2, XIAP, and STAT1 genes in patients with pTA. TA, a relatively rare disease, is more common in geographical pockets, including India. We hypothesized that South Asian patients with pTA, namely, those of Indian subcontinent origin, may have clinically relevant and unique pathogenic variants involving one or more genes, especially those linked to genetically driven vasculitic illnesses, including autoinflammatory pathologies. Children with pTA fulfilling EULAR/PRINTO/PReS classification criteria and presenting with clinical symptoms to the Paediatric Rheumatology clinic of Christian Medical College, Vellore, were included. Blood samples were collected after getting informed consent from parents or guardians and assent forms from children. DNA was extracted from whole blood using the Qiagen DNA extraction kit. Initially, the common variant in Indian population, namely, ADA2 c.139G > A; p.Gly47Arg, was screened, followed by whole exome sequencing. Fourteen children were recruited for the study. Median age of patients was 11 years (4 months–14 years) with a male-to-female ratio of 4:10. Distribution of angiographic subsets by Numano's classification of included children were as follows: type 5 (n = 7), type 4 (n = 5), and type 3 (n = 2). We identified novel variants in ten different genes. This include variants in genes of classical complement pathway, namely, C2, C3, C6, C7, and C9, and other genes, namely, CYBA, SH3BP2, GUCY2C, CTC1, COL5A1, and NLPR3. Two of 14 patients have heterozygous pathogenic variants; this implies that combination of heterozygous variants in C3 and COL5A1 might lead to disease development, suggesting digenic inheritance. One patient has a homozygous variant in CYBA. None of the patients were identified to have ADA2 variants. Whole exome sequencing reveals combination of rare variants in genes C3, COL5A1, and CYBA associated with disease development in children with Takayasu Arteritis. Key Points • We identified novel variants in genes of classical complement pathway, namely, C2, C3, C6, C7, and C9, and other genes, namely, CYBA, SH3BP2, GUCY2C, CTC1, COL5A1, and NLPR3. • Two of 14 patients have heterozygous pathogenic variants in C3 and COL5A1; this may have implications in disease development, suggesting digenic inheritance. • One patient has homozygous variant in CYBA. • None of the patients were identified to have ADA2 variants. [ABSTRACT FROM AUTHOR]

Background Immune complex vasculitides may be subdivided into adult IgA small vessel vasculitis (aIgA-SVV; i.e. adult Henoch–Schönlein purpura) and non-IgA-SVV (hypersensitivity vasculitis, etc.). Objectives To evaluate the clinical and laboratory parameters of inpatients fulfilling the diagnostic criteria for aIgA-SVV and non-IgA-SVV. Methods Twenty-nine adults aged ≥ 20 years with aIgA-SVV [according to the European League Against Rheumatism/Paediatric Rheumatology International Trials Organisation/Paediatric Rheumatology European Society (EULAR/PRINTO/PRES) criteria] and 53 adults with non-IgA-SVV (according to the 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides) were compared with respect to a variety of clinical and laboratory parameters by uni- and multivariable analyses. Results Compared with patients with aIgA-SVV, the platelet-to-lymphocyte ratio was significantly higher in patients with non-IgA-SVV. Serum C3 levels and mean corpuscular haemoglobin concentration in patients with non-IgA-SVV were significantly lower compared with patients with aIgA-SVV. Proteinuria and haematuria were significantly more common in patients with aIgA SVV, and were significantly correlated with systemic immune-inflammation biomarkers only in patients with aIgA-SVV. In patients with aIgA-SVV, higher lactate dehydrogenase and C-reactive protein were strong independent predictors for the presence of proteinuria and proteinuria. In patients with non-IgA-SVV, female sex was a protective factor for proteinuria, while skin lesions on the upper extremities proved to be a significant independent predictor of haematuria. Conclusions We detected several clinical and laboratory differences between patients with aIgA-SVV and non-IgA-SVV. Distinct predictors for renal involvement were not observed in either group, indicating that aIgA-SVV and non-IgA-SVV are similar conditions but do not appear to represent the same entity. [ABSTRACT FROM AUTHOR]

Objective: Musculoskeletal ultrasound (MSUS) is widely used in adult rheumatology practice for diagnosis of arthritis and procedural guidance; however, it is not yet common practice in pediatric rheumatology. MSUS is advantageous to the pediatric population because it lacks radiation and eliminates need for sedation. This study aims to assess interest in, access to, and barriers to MSUS training in pediatric rheumatology fellowship programs in North America. Methods: A survey was developed by pediatric rheumatology providers with experience in medical and/or MSUS education and distributed via REDCap anonymously in March 2022 (Supplementary Material). Eligible participants included current and recently graduated (<1 year) pediatric rheumatology fellows at a North American program. Descriptive statistics and bivariate analyses using design‐based Pearson chi‐squared tests were performed. Results: Overall response rate was 78% (88/113), and 75% reported some form of MSUS training during fellowship. Only 36% indicated their program had a formal MSUS curriculum. Of those with MSUS training, 23% reported adult‐only MSUS education. Eighty‐four percent felt MSUS would be beneficial to their career. Major barriers to MSUS training included lack of MSUS‐trained faculty, lack of time, and lack of hands‐on MSUS sessions. Those who had access to MSUS training were significantly more interested in MSUS than those without (P = 0.0036). Conclusion: This study demonstrates that North American pediatric rheumatology fellows have a strong interest in learning MSUS, but they face significant challenges in accessing MSUS training (lack of MSUS‐trained faculty, time, and access to hands‐on training). MSUS should be incorporated into fellowship curriculum; however, implementation remains a challenge. [ABSTRACT FROM AUTHOR]

Background: Juvenile Dermatomyositis (JDM) is the most common chronic idiopathic inflammatory myopathy in children. The diagnosis is clinical. Baseline laboratory and complementary studies trace the phenotype of these patients. The objective of this study was to describe epidemiological, clinical and laboratory characteristics at diagnosis of JDM patients included in the Spanish JDM registry, as well as to identify prognostic factors on these patients. Methods: We retrospectively reviewed clinical features, laboratory tests, and complementary studies at diagnosis of JDM patients included on the Spanish JDM registry. These data were analyzed to assess whether there was a relationship with the development of complications and time to disease inactivity. Results: One hundred and sixteen patients from 17 Spanish paediatric rheumatology centres were included, 76 girls (65%). Median age at diagnosis was 7.3 years (Interquartile range (IQR) 4.5–10.2). All patients had pathognomonic skin lesions at the beginning of the disease. Muscle weakness was present in 86.2%. Median Childhood Muscle Assessment Scale was 34 (IQR 22–47). Twelve patients (34%) had dysphagia and 3,5% dysphonia. Anti-p155 was the most frequently detected myositis specific antibody, followed by anti-MDA5. Twenty-nine patients developed calcinosis and 4 presented with macrophage activation syndrome. 70% reached inactivity in a median time of 8.9 months (IQR 4.5–34.8). 41% relapsed after a median time of 14.4 months (IQR 8.6–22.8) of inactivity. Shorter time to treatment was associated with better prognosis (Hazard ratio (HR) = 0.95 per month of evolution, p = 0.02). Heliotrope rash at diagnosis correlates with higher risk of development complications. Conclusions: We describe heliotrope rash as a risk factor for developing complications in our cohort of JDM patients, an easy-to-evaluate clinical sign that could help us to identify the group of patients we should monitor closely for this complication. [ABSTRACT FROM AUTHOR]

Background: The American College of Rheumatology (ACR)/Childhood Arthritis and Rheumatology Research Alliance (CARRA) Mentoring Interest Group (AMIGO) is an inter-institutional mentorship program launched to target mentorship gaps within pediatric rheumatology. Initial program evaluation indicated increased mentorship access. Given the small size of the pediatric rheumatology workforce, maintaining a consistent supply of mentors was a potential threat to the longevity of the network. Our aims were to: (i) describe the sustainability of AMIGO over the period 2011–2018, (ii) highlight ongoing benefits to participants, and (iii) describe challenges in the maintenance of a mentorship network. Methods: A mixed-methods approach centered on a quality improvement framework was used to report on process and outcomes measures associated with AMIGO annual cycles. Results: US and Canada Pediatric rheumatology workforce surveys identified 504 possible participants during the time period. As of fall 2018, 331 unique individuals had participated in AMIGO as a mentee, mentor or both for a program response rate of 66% (331/504). Survey of mentees indicated high satisfaction with impact on general career development, research/scholarship and work-life balance. Mentors indicated increased sense of connection to the community and satisfaction with helping mentees despite limited perceived benefit to their academic portfolios. Based on AMIGO's success, a counterpart program for adult rheumatology, Creating Adult Rheumatology Mentorship in Academia (CARMA), was launched in 2018. Conclusions: Despite the challenges of a limited workforce, AMIGO continues to provide consistent access to mentorship opportunities for the pediatric rheumatology community. This experience can inform approaches to mentorship gaps in other academic subspecialties. [ABSTRACT FROM AUTHOR]

Background: Pediatric uveitis poses challenges in diagnosis and treatment due to asymptomatic or oligosymptomatic presentations and high rates of intraocular complications. Objectives: This study aimed to characterize clinical manifestations and treatment approaches of pediatric uveitis patients in a northern Portuguese tertiary hospital. Methodology: A retrospective study was conducted involving 41 patients diagnosed with uveitis between 2006 and 2021. All individuals identified by the Opthalmology department were referred to Pediatric Rheumatology outpatient clinic. Demographic, clinical, treatment, and intraocular complications data were collected. Results: Of the patients, 78% had anterior uveitis, 17% had panuveitis, and 5% had intermediate uveitis. Uveitis associated with juvenile idiopathic arthritis (JIA) was the most common cause (43.9%), predominantly in the oligoarticular, anti-nuclear antibody-positive subgroup. Complications were identified in 80.5% of the patients. Uveitis associated with JIA was diagnosed earlier [5.0 years (3.0–10.5) vs. 9.0 years (5.5–14.0), P = .036], more frequently in asymptomatic patients (71% vs. 23%, P = .010), had a more insidious installation (71% vs. 17%, P = .004), and required more tumor necrosis factor (TNF) inhibitor treatment (70% vs. 39%, P = .027). Conclusion: The high rates of intraocular complications and systemic pathology association highlight the need for a combined approach of ophthalmology and pediatric rheumatology in the diagnosis and treatment of pediatric uveitis. [ABSTRACT FROM AUTHOR]

Objectives: Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C‐reactive protein (CRP) are poorly informative about interferon (IFN)‐related disorders. In these conditions, the measure of the interferon score (IS), obtained by measuring the expression of IFN‐stimulated genes, has been proposed. Flow cytometry‐based assays measuring sialic‐acid‐binding Ig‐like lectin 1 (Siglec‐1) expression could be a more practical tool for evaluating IFN‐inflammation. The study compared Siglec‐1 measures with IS and other inflammatory indexes. We compared Siglec‐1 measures with IS and other inflammatory indexes in real‐world paediatric rheumatology experience. Methods: We recruited patients with immuno‐rheumatological conditions, acute infectious illness and patients undergoing orthopaedic surgery as controls. Siglec‐1 expression was measured in all samples, and IS, ESR and CRP were also recorded if available. Results: Overall, 98 subjects were enrolled in the study, with a total of 104 measures of Siglec‐1. Compared with IS, Siglec‐1 expression showed good accuracy (86.0%), specificity (72.7%) and sensitivity (85.7%). The measure of the percentage of Siglec‐1‐positive cells performed best at low levels of IFN‐inflammation, while the measure of mean fluorescence intensity performed best at higher levels. Ex vivo studies on IFN‐stimulated monocytes confirmed this behaviour. There was no link between Siglec‐1 expression and either ESR or CRP, and positive Siglec‐1 results were found even when ESR and CRP were normal. A high Siglec‐1 expression was also recorded in subjects with acute infections. Conclusion: Siglec‐1 measurement by flow cytometry is an easy tool to detect IFN‐related inflammation, even in subjects with normal results of common inflammation indexes. [ABSTRACT FROM AUTHOR]

Objective: Since adalimumab approval in childhood chronic non-infectious uveitis (cNIU), the prognosis has been dramatically changed, but the 25 % failed to achieve inactivity. There is not accordance if it is better to switch to another anti-TNF or to swap to another category of biologic. Thus, we aim to summarize evidence regarding the best treatment of cNIU refractory to the first anti-TNF. Methods: A systematic literature review and meta-analysis, according to PRISMA Guidelines, was performed(Jan2000-Aug2023). Studies investigating the efficacy of treatment in cNIU refractory to the first anti-TNF were considered for inclusion. The primary outcome was the improvement of intraocular inflammation according to SUN. A combined estimation of the proportion of children responding to switch or swap and for each drug was performed. Results: 23 articles were eligible, reporting 150 children of whom 109 switched anti-TNF (45 adalimumab, 49 infliximab, 9 golimumab) and 41 swapped to another biologics (31 abatacept, 8 tocilizumab and 1 rituximab). The proportion of responding children was 46 %(95 % CI 23-70) for switch and 38 %(95 % CI 8-73) for swap (χ20.02, p = 0.86). Instead analysing for each drug, the proportion of responding children was the 24 %(95 % CI 2-55) for adalimumab, 43 %(95 % CI 2-80) for abatacept, 79 %(95 % CI 61-93) for infliximab, 56 %(95 % CI 14-95) for golimumab and 96 %(95 % CI 58-100) for tocilizumab. We evaluated a superiority of tocilizumab and infliximab compared to the other drugs(χ2 27.5 p

IntroductionJuvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease which is commonly monitored by a combination of history, physical examination, bloodwork, and imaging. The COVID-19 pandemic prompted a rapid shift to telemedicine to ensure that patients continued to receive healthcare. The shift to telemedicine changed the methodology and ability of healthcare providers to monitor their patients' progress, as they were unable to perform direct hands-on assessments. The following survey sought to understand the impact of switching pediatric rheumatology healthcare delivery from in-person to telemedicine modality. Specifically, it sought to examine the rate of collection of critical data elements (CDE) for monitoring JIA disease activity and outcomes, barriers and facilitators to its collection, opinions on difficulty and importance of collecting CDE over telemedicine, tools and electronic medical record modifications that facilitated CDE collection, and other data elements that were important to collect during telemedicine visits.MethodsA cross-sectional survey was sent to healthcare providers at all PR-COIN centers who saw patients using telemedicine. Qualitative data was analyzed using descriptive statistics and qualitative data was analyzed using an inductive approach.ResultsSurvey respondents reported that they documented the CDE at least 75% of the time. Barriers to assessing and documenting critical data elements included (1) the inability to palpate or visualize all joints over telemedicine, (2) connectivity issues, and (3) forgetfulness with collecting all CDE. Respondents suggested using reminders within the electronic medical record to prompt documentation completeness and improve reliability. They also suggested including medication adherence, quality of life, and patient/caregiver satisfaction with their telemedicine experience as part of their documentation. A few centers reported that they had established processes to assist with data collection in advance of the telemedicine visit; however, the variation in responses reflects the need to standardize the process of providing care over telemedicine.DiscussionMultiple barriers and facilitators to collecting CDE during telemedicine visits exist. Given that a proportion of the population will continue to be seen over telemedicine, teams need to adapt their practices to consistently provide high-quality care over virtual platforms, ensuring that patients at any institution receive a standardized level of service.

BackgroundFailure of successful transition to adult care for adolescents and young adults with chronic rheumatic diseases negatively impacts their health and wellbeing. Transition of care is a vital and complex process within pediatric rheumatology that can be difficult to execute. Use of quality improvement (QI) and clinical informatics (CI) can help implement transition programs.Local problemDespite efforts to improve transition of care within our pediatric rheumatology clinic, it has been difficult to implement and sustain good transition practices including assessment of transition readiness. Using QI methodology and CI, this study aimed to improve transition readiness assessment from 12 to 30% and sustain for one year by surveying transitioning patients yearly.MethodsA transition-focused QI team utilized methods endorsed by the Institute for Healthcare Improvement and leveraged CI to improve survey completion. Control charts of survey completion rates were tracked monthly. Descriptive statistics were used to analyze survey responses.InterventionsInterventions focused on automation of patient surveys at regularly scheduled clinic visits.Results1,265 questionnaires were administered to 1,158 distinct patients. Survey completion rose from a baseline of 12% to greater than 90% and was sustained over 18 months. Identified educational needs included health insurance, scheduling appointments, obtaining care outside of rheumatology clinic business hours, Electronic Health Record messaging, and refilling medications.ConclusionsBy leveraging CI and QI methodology, we were able to assess transition readiness in more than 90% of our patients and identify gaps in self-management. Process automation can create sustainable transition practices.

Abstract Background Kawasaki disease has been described across the globe, although publications from Africa are limited. To our knowledge, there are no publications on Kawasaki disease from Kenya, which triggered this report. Methods A retrospective cross-sectional study was undertaken to identify in-patients with a discharge diagnosis of Kawasaki disease, over 2 different 5-year periods, at two pediatric hospitals in Nairobi, Kenya. We reviewed the medical records of all patients and report their clinical findings, diagnostic workup and treatment. In addition, we undertook a detailed review of the literature. Results Twenty-three patients with Kawasaki disease were identified, of those 12 (52.2%) had incomplete disease. The mean age was 2.3 years (SD+/-2.2) (range 0.3–10.3) with a male to female ratio of 1:1. The mean duration of fever at diagnosis was 8.3 days (SD+/-4.7) (range 2–20). Oral changes were the most common clinical feature and conjunctivitis the least common. Thrombocytosis at diagnosis was seen in 52% (12/23). Twenty-one patients (91.3%) were treated with intravenous immunoglobulin and all except 1 received aspirin. Baseline echocardiograms were performed in 95.7% (22/23) and found to be abnormal in 3 (13.6%). Follow-up data was limited. Our literature review identified 79 publications with documented cases of Kawasaki disease in children from 22 countries across the African continent with a total of 1115 patients including those from this report. Only 153 reported cases, or 13.7%, are from sub-Saharan Africa. Conclusions This is the first publication on Kawasaki disease from Kenya and one of the largest reports from sub-Saharan Africa. It is the first to have a complete review of the number of published cases from the African continent. Challenges in the diagnosis and management of Kawasaki disease in many African countries include disease awareness, infectious confounders, access and cost of intravenous immunoglobulin, access to pediatric echocardiography and follow-up. Increasing awareness and health care resources are important for improving outcomes of Kawasaki disease in Africa.

Background: Many children with rheumatic and musculoskeletal diseases are unrecognized. Identifying these children requires health care provider awareness, knowledge, and skills to recognize disease features and how (and when) to refer to specialist care. The aim of this paper is to highlight the need for better access to health care, review the essential role that education and virtual care play to address unmet need in low resource areas and especially to expand workforce capacity. Using collaborative partnerships, virtual platforms, and innovative assessment methods, musculoskeletal care and education can be delivered to reach a greater audience than ever before. Increased awareness through multiple initiatives and readily available resources are imperative to improve global rheumatology care. Conclusion: The needs of children with rheumatic diseases and musculoskeletal conditions are vastly underserved around the world resulting in preventable morbidity and mortality. Expanded implementation of virtual education and e-health care platforms provides an opportunity to increase access to care for children globally. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to examine the transition process of paediatric rheumatology patients from the Monash Children's Hospital (MCH) in Melbourne in order to identify areas that could be improved. Methods: Retrospective review of clinical data from the rheumatology database of paediatric rheumatology patients eligible for transition between January 2015 and September 2020. Results: One hundred and sixty‐five patients were included; 57 patients were transitioned. Of patients transitioned to an adult service, 38 (88%) were on medication and 14 (33%) had active disease. All patients transitioned to the general practitioner (GP) had inactive disease off medication. Juvenile idiopathic arthritis (JIA) (non‐systemic) was the most common diagnosis in patients transitioned. The mean age at which transition was first discussed was 18.0 years; the first referral was made at a mean of 18.3 years. The mean age at the first adult appointment was 18.5 years. Thirty‐nine (91%) patients had a referral completed and 8 (19%) had a transfer letter. Thirteen (93%) patients transferred to the GP had a transfer letter. Transfer documents to an adult public rheumatology service rated 4.3 for quality, compared to 5.5 to the GP. Transfer of care was confirmed in 40 (93%) patients transitioned to an adult service; however, correspondence was available for only 3 (7%). Conclusion: Although the transition process at MCH was adequate, it could be improved through earlier discussion of the process and improved referrals and documentation. A readiness‐to‐transfer checklist and a young adult clinic have the potential to improve the process of transition to adult rheumatology care. [ABSTRACT FROM AUTHOR]

Objectives: To reveal the differences by comparing the magnetic resonance imaging (MRI) findings of patients with clinically symptomatic sacroiliitis with those undergoing sacroiliac imaging for other reasons using the Canadian Spondyloarthritis Research Consortium-Sacroiliac Inflammatory Scoring System (SPARCC-SIS). Methods: In this retrospective single-center study, sacroiliac MRIs performed between 2017 and 2023 were evaluated from the database. The SPARCC-SIS scoring system is used to evaluate and grade the inflammation of the sacroiliac joints. Mild inflammation is indicated by a score below 24, moderate by a score of 24–48, and severe by a score above 49. Additionally, structural defects of the sacroiliac joint, such as erosion, sclerosis, and ankylosis, were observed. After MRI evaluation, clinically symptomatic (group 1) and non-symptomatic (group 2) patients were divided into two groups. The clinical and laboratory findings of the patients and MRI findings were compared. The patient's age, gender, clinical information from hospital records, acute phase reactants (APRs), and the presence of the Human Leukocyte Antigen (HLA-B27) gene (if applicable) were thoroughly recorded. Results: One hundred thirty-six children who performed sacroiliac MRI for any indication were included in the study. The APRs positivity, presence of HLA-B27, and SPARCC scoring system were significantly higher in 24 patients with clinical sacroiliitis (group 1) than in 112 patients without sacroiliitis (group 2). In our study, the most common MRI findings in children were bone marrow edema, capsulitis, synovitis, and erosion, while chronic structural changes such as sclerosis and ankylosing were rare. Conclusion: In this study, the SPARCC scoring method, which shows the severity of sacroiliac joint inflammation, correlates with the clinical diagnosis of sacroiliitis. In cases with suspected sacroiliitis, except for extraordinary reasons, it can be evaluated with MRI without contrast material and can be graded to guide the clinician in treatment and approach. Key points • Since the SPARCC scoring method, which shows the severity of sacroiliac joint inflammation, will guide the clinician, its use in the pediatric population will be beneficial and feasible. • Non-contrast scans are often sufficient to assess inflammation in the sacroiliac joint. In the evaluation of sacroiliac MRI in children, evaluation can be made without contrast. • Since chronic changes in the sacroiliac joint are very rare in children, evaluation with radiography or CT may not be needed. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to assess the cultural adaptation, validity, and reliability of the Turkish version of the Juvenile Arthritis Quality of Life Questionnaire (JAQQ) in patients with juvenile idiopathic arthritis (JIA). Methods: A total of 100 JIA patients (64% female), aged 9 to 18 years, participated in the study conducted at a tertiary care university hospital. The JAQQ was culturally adapted through a rigorous translation process and administered alongside established measures, including the Childhood Health Assessment Questionnaire (CHAQ), Juvenile Arthritis Biopsychosocial Questionnaire (JABQ), and Children's Depression Inventory (CDI). Validity and reliability were evaluated using Spearman's correlation coefficients, Cronbach's alpha, intraclass correlation coefficient (ICC), standard error of the mean (SEM), and minimal detectable change (MDC). Results: The Turkish version of JAQQ exhibited high convergent validity, correlating significantly with CHAQ, JABQ, and CDI. No floor or ceiling effects were observed in the total JAQQ score, indicating a balanced assessment. Internal consistency was excellent (Cronbach's α = 0.948), and test–retest reliability was satisfactory (ICC = 0.913). SEM and MDC95 values were 0.357 and 0.99, respectively. Conclusions: The Turkish adaptation of JAQQ emerges as a valid and reliable instrument for comprehensively assessing the health-related quality of life in children and adolescents diagnosed with JIA. The questionnaire's robust psychometric properties, coupled with distinctive features like individualized assessment, highlight its potential as a valuable tool for both clinical assessment and scientific research in the field of pediatric rheumatology. Key Points • The Juvenile Arthritis Quality of Life Questionnaire (JAQQ) is an important scale that evaluates the quality of life of children with Juvenile Idiopathic Arthritis (JIA). • JAQQ is known and used in the field of pediatric rheumatology in Turkey, but its Turkish adaptation has not been made before. • Our study includes 100 JIA patients aged between 9 and 18 years and shows that the Turkish version of JAQQ is valid and reliable in measuring the quality of life of these children. • This research contributes to the accurate assessment of the quality of life in Turkish children diagnosed with JIA, providing valuable insights for both clinical and scientific studies. [ABSTRACT FROM AUTHOR]

Introduction: We aim to report on the feasibility of establishment of the first paediatric cohort as part of the longitudinal database of the Australian Lupus Registry and Biobank (ALRB) and to describe the enrolment data with a focus on clinical characteristics, serological data, treatment strategies and patient/parent-reported outcome measures. Methods: All patients under the age of 18 years with a diagnosis of systemic lupus erythematosus (SLE) attending the paediatric rheumatology service of a single, tertiary hospital were identified. Patients were enrolled in the ALRB if they met ≥4/11 of the American College of Rheumatology (ACR) 1997 SLE classification criteria or the Systemic Lupus International Collaborating Clinics (SLICC) 2012 classification criteria. Enrolment data including demographics, clinical characteristics, serological profiles, disease activity and damage assessments were recorded. Peds-QL Rheumatology and General Modules were used to assess patient and parent-reported outcomes. Results: Twenty-seven patients were eligible for inclusion, with 26 patients (96%) consenting for enrolment. Twenty-five patients (92%) consented for biobanking. Twenty patients (77%) were female. The median age at enrolment was 16 years (interquartile range (IQR) 13.7, 17.4). The median disease duration from diagnosis was 3.2 years (IQR 1.4, 5.3). Sixteen patients (62%) had synovitis, 16 (62%) had cutaneous involvement, 4 (15%) had serositis, 17 (65%) had haematological involvement and 7 (27%) had renal involvement at enrolment. Nineteen patients (73%) were prescribed at least two disease-modifying anti-rheumatic medications (DMARDs). Hydroxychloroquine (n = 22, 85%) and mycophenolate mofetil (n = 9, 35%) were the most commonly prescribed DMARDs. The median SLEDAI-2K score was 2 (IQR 2, 4). Six patients (23%) had active disease (SLEDAI-2K ≥6) at enrolment. Three patients (11.5%) had reported damage using the SLICC/ACR Damage Index. Twenty-three children (88%) and eighteen parents (69%) completed the Paediatric Quality of Life Inventory. Quality of life scores reported across domains of physical, emotional, social and school functioning at enrolment were comparable to previously studied paediatric cohorts with SLE and other chronic diseases. Conclusion: We have established our centre as the first paediatric participating site of the ALRB, providing contemporary data on the clinical characteristics, serological profile and health-related quality of life outcomes of Australian children with SLE. Paediatric involvement with this national registry will provide a unique perspective for future clinical and scientific research. Collection of Australian-specific paediatric longitudinal data will also enable a broader understanding of SLE within a multicultural Australian population. [ABSTRACT FROM AUTHOR]