Pediatric Rheumatology Research Articles

CINCA Syndrome: about a Series of 5 Cases

CINCA is a chronic auto-inflammatory syndrome of childhood characterized by a combination of skin, joint and neurological involvement, including sensory organs, due to a mutation in the NLRP3 gene responsible for uncontrolled activation of innate immunity. Our objective is to establish the epidemiological, clinical, genetic, therapeutic and evolutionary characteristics of the CINCA syndrome. Materials & Methods: Retrospective analysis spread over 16 years (2000 to 2016) of 05 cases of CINCA syndrome, followed up at the pediatric rheumatology department and consultation at the Rabat children's hospital. Results: There were 03 boys and 02 girls, the mean age at diagnosis was 2 years and 02 months. 01 patient was from consanguineous parents (1st degree). Clinical signs were recurrent fever in all patients, osteoarticular involvement in 80% with patellar hypertrophy in 01 patient, skin involvement in 80%, neurological involvement in 60%, no sensory involvement, dysmorphic facies in 60% of cases, and staturo-ponderal retardation in 60%. None of the patients had renal amyloidosis. Biological tests revealed an inflammatory syndrome in all our patients, and joint radiographs showed a modelling disorder of the lower femoral metaphyses associated with osteoporosis in one patient, and epiphyseal remodelling with irregular ossification of the patellae in another. A genetic study was carried out in only 01 cases, revealing a mutation in the CIAS 1 gene. Biotherapy was not used in view of the clinical and biological improvement with NSAIDs and/or corticosteroids. CINCA syndrome is rare but can be serious and often goes unrecognized. Diagnostic and therapeutic management must be rapid in order to avoid serious complications, particularly ocular and renal, and to improve vital and functional prognosis.

Practice Patterns and Approach to Childhood Lupus Nephritis in Saudi Arabia.

Renal involvement of systemic lupus erythematosus needs aggressive treatment. Despite the development of multiple international guidelines, differences in practices exist. This study aimed to explore the current practices of pediatric rheumatologists and nephrologists for the diagnosis, management, and monitoring of lupus nephritis (LN) in Saudi Arabia through a survey. Among the 61 respondents, 54.1% were pediatric nephrologists and 49.9% were pediatric rheumatologists. Predominantly, the participating physicians received training either nationally (57%) or in North America (45%). Most of the respondents (77%) did not have a combined rheumatology-nephrology clinic, primarily because of space or time limitations (75%), or a lack of the other specialty (13%). In terms of the decision to request a renal biopsy, the most common factors were nephrotic-range proteinuria (85%) and a lower level of proteinuria associated with hypocomplementemia or elevated anti-double-stranded (ds) DNA (73%). There was marginal agreement over monitoring the disease's activity and treatment response; Complements 3 and 4, anti-dsDNA, protein-creatinine ratio, and estimated glomerular filtration rate were the most popular parameters. The main reason for repeating a renal biopsy was a new renal manifestation that was inconsistent with the previous biopsy. There was considerable variability in the induction therapies used to initiate and taper corticosteroids and conventional immunosuppressive drugs. Most respondents (91%) used angiotensin-converting enzyme agents to control proteinuria. Considerable agreement exists among Saudi physicians managing children with LN but significant variations exist regarding the therapeutic strategies. Additional endeavors are needed to establish a unified national clinical approach for managing LN in children.

The effect of buzzy®, DistrACTION® cards on reducing pediatric pain and fear during blood collection in the rheumatology polyclinic: A randomized controlled trial

PurposeThe aim of this study was to compare the effectiveness of Buzzy® and DistrACTION® Cards in reducing children's pain and fear while taking venous blood samples. MethodsThis research was designed as a randomized controlled experimental study. The study population consisted of children aged 6–12 years admitted to the Pediatric Rheumatology Diseases Polyclinic in a Faculty of Medicine in Germany. The sample of the study consisted of 96 children (Buzzy® = 32, DistrACTION® Cards = 32, control = 32) who met the patient selection criteria and agreed to participate in the study. The data were obtained using a Child and Family Information Form, the Children Fear Scale (CFS), and the Faces Pain Scale–Revised (FPS-R). The data were evaluated using the Pearson chi-square test, Kruskal-Wallis test, One-way ANOVA test with Bonferroni correction, and Fisher-Freeman-Halton. FindingsIn the study, the average age of the children was 9.21 ± 2.15 years. The Buzzy® group had the lowest pain and procedural fear scores (self-report = 0.88 ± 1.13, 0.31 ± 0.47; parent report = 0.75 ± 0.98, 0.34 ± 0.48, and researcher report = 0.81 ± 1.00, 0.31 ± 0.54, respectively) than the DC, and control groups. ConclusionsThe Buzzy® method was effective in reducing venipuncture pain and fear in children. Practice implicationsNurses can use the Buzzy® methods to help reduce venipuncture pain and fear in children.The clinical trial registration number is NCT05560074.(https://clinicaltrials.gov/ct2/show/study/NCT05560074).

The impact of the COVID-19 pandemic on pediatric rheumatology practice: an international, cross-sectional survey study

ObjectiveThe COVID-19 pandemic has affected patient care in general. We aimed to analyze the impact of the pandemic on pediatric rheumatology practice. MethodsAn online survey including 22 questions was created by the representatives of the Emerging RheumatoloGists and rEsearchers (EMERGE) group of the Pediatric Rheumatology European Society (PReS) on SurveyMonkey. The descriptive analysis of the responses was performed on SurveyMonkey. ResultsOverall, 469 pediatric rheumatologists (F/M: 2.9) from 70 countries completed the survey. The practice of drug prescription is not affected by the pandemic, according to 65.3 % of the respondents, while 24.3 % and 16.5 % are prescribing biologic drugs and corticosteroids less often, respectively. Over 40 % of the respondents have seen an increased number of patients with vasculitis or chilblains during the pandemic. One-third of the respondents stated no adjustments in their clinical practice after 2.5 years of COVID-19 pandemic. The rest indicated implementing various changes, with an emphasis on incorporating telemedicine. Telemedicine constitutes ≥10 % of the clinical practice for one-third of the participants. Nonetheless, 35.5 % agree that there are still delays in patient care due to the pandemic. However, most (∼90 %) think our practice is returning to the pre-pandemic routine. ConclusionThe findings of our study indicate a significant alteration in pediatric rheumatology practice due to the pandemic. This includes increased caution when prescribing anti-rheumatic drugs, a transition towards telemedicine utilization, delays in routine care, and a rise in COVID-19-related inflammatory conditions. It is imperative to address these aspects in order to improve patient care in pediatric rheumatology.

Clinical characteristics and predictors for recurrence in chronic nonbacterial osteomyelitis: a retrospective multicenter analysis.

Chronic nonbacterial osteomyelitis (CNO) is a rare disease of unknown etiology and most commonly occurs during childhood or adolescence. The purpose of this study is to collect data on the clinical features, outcomes, and management of the disease and to identify the factors affecting recurrence. This is a retrospective multicenter cross-sectional study of pediatric patients diagnosed with CNO. A total of 87 patients with a diagnosis of CNO followed for at least 6 months in 8 pediatric rheumatology centers across the country between January 2010 and December 2021 were included in this study. The study included 87 patients (38 girls, 49 boys; median age: 12.5 years). The median follow-up time was 20 months (IQR: 8.5-40). The median time of diagnostic delay was 9.9 months (IQR: 3-24). Arthralgia and bone pain were the most common presenting symptoms. Multifocal involvement was detected in 86.2% of the cases and a recurrent course was reported in one-third of those included in the study. The most commonly involved bones were the femur and tibia. Vertebrae and clavicles were affected in 19.5% and 20.6% of cases, respectively. The erythrocyte sedimentation rate (ESR) values of 60.9% of the patients were above 20 mm/h and the C-reactive protein values of 44.8% were above 5 mg/L. The remission rate was 13.3% in patients using nonsteroidal antiinflammatory drugs and 75.0% in those using biological drugs. Vertebral and mandibular involvement and high ESR values at the time of diagnosis were associated with recurrence. In this multicenter study, CNO with vertebral and mandibular involvement and high ESR at diagnosis were associated with recurrence.

Reporting the clinical spectrum of children with IgAV in a retrospective 24-year cohort: Influences of age and sex on clinical presentation.

Immunoglobulin A vasculitis (IgAV) is one of the most common types of vasculitis in children. The aims of this study were to investigate the clinical characteristics of the disease, and the effects of age and sex on the clinical course in children with IgAV. This was a retrospective study including pediatric patients diagnosed with IgAV who attended follow-ups at the pediatric rheumatology department of a tertiary healthcare institution between January 1997 and December 2020. The patients were grouped and compared according to sex and age at diagnosis (<7 years vs. ≥7 years). The study included 709 children with IgAV, 392 (55.3%) of whom were male. The mean age at diagnosis was 7.9 ± 3.2 years. The most common disease onset season was autumn (31.2%). Upper respiratory infections (27.8%) were the most common predisposing factors. Gastrointestinal system (GIS), joint, and renal involvement were observed in 52.8%, 47.5%, and 17.5% of patients, respectively. Renal involvement, GIS involvement, and disease relapse were significantly more common among those diagnosed after 7 years of age compared to those diagnosed before the age of 7 (p < 0.001, p = 0.033, and p < 0.001, respectively). Scrotal involvement and subcutaneous edema were more common among those diagnosed at younger than 7 years compared to those aged ≥7 years at diagnosis (p < 0.001 and p = 0.016, respectively). GIS involvement was more frequently seen in males compared to females (p = 0.046). It was demonstrated that being ≥7 years of age at diagnosis or being a male were associated with higher likelihood of renal and GIS involvement in children with IgAV.

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

To assess changes in juvenile idiopathic arthritis (JIA) treatments and outcomes in Canada, comparing 2005-2010 and 2017-2021 inception cohorts. Patients enrolled within three months of diagnosis in the Research in Arthritis in Canadian Children Emphasizing Outcomes (ReACCh-Out) and the Canadian Alliance of Pediatric Rheumatology Investigators Registry (CAPRI) cohorts were included. Cumulative incidences of drug starts and outcome attainment within 70 weeks of diagnosis were compared with Kaplan-Meier survival analysis and multivariable Cox regression. The 2005-2010 and 2017-2021 cohorts included 1128 and 721 patients, respectively. JIA category distribution and baseline clinical juvenile idiopathic arthritis disease activity (cJADAS10) scores at enrolment were comparable. By 70 weeks, 6% of patients (95% CI 5, 7) in the 2005-2010 and 26% (23, 30) in the 2017-2021 cohort had started a biologic DMARD (bDMARD), and 43% (40, 47) and 60% (56, 64) had started a conventional DMARD (cDMARD), respectively. Outcome attainment was 64% (61, 67) and 83% (80, 86) for inactive disease (Wallace criteria), 69% (66, 72) and 84% (81, 87) for minimally active disease (cJADAS10 criteria), 57% (54, 61) and 63% (59, 68) for pain control (<1/10), and 52% (47, 56) and 54% (48, 60) for good health-related quality of life (≥9/10). Although baseline disease characteristics were comparable in the 2005-2010 and 2017-2021 cohorts, cDMARD and bDMARD use increased with a concurrent increase in minimally active and inactive disease. Improvements in parent and patient-reported outcomes were smaller than improvements in disease activity.

Proceedings of the 29th European Paediatric Rheumatology Congress

Proceedings of the 29th European Paediatric Rheumatology Congress

The importance ofsmall joint involvement inoligoarticular juvenile idiopathic arthritis.

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. 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. 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). 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.

Majority of new patient referrals to a large pediatric rheumatology center result in non-rheumatic diagnosis

ObjectivePediatric rheumatology faces a looming supply-demand crisis. While strategies have been proposed to address the supply shortfall, investigation into the increased demand for pediatric rheumatic care has been limited. Herein, we analyze new patient visits to a large tertiary care pediatric rheumatology center to identify emerging trends in referrals and areas for potential intervention to meet this increased demand.MethodsAll patients referred to and seen by the University of Alabama at Birmingham Pediatric Rheumatology Division between January 2019 and December 2021 for a new patient evaluation were identified. Patient data was retrospectively abstracted, de-identified, and analyzed to develop trends in referrals and frequency of rheumatic disease, non-rheumatic disease, and specific diagnoses.ResultsDuring the study period, 2638 patients were referred to and seen in by the pediatric rheumatology division. Six hundred and ten patients (23.1%) were diagnosed with rheumatic disease. The most common rheumatic disease was juvenile idiopathic arthritis (JIA) at 45.6%, followed by primary Raynaud phenomenon (7.4%), recurrent fever syndromes (6.9%), vasculitides (6.7%), and inflammatory eye disease (6.2%). Of the 2028 patients (76.9%) diagnosed with a non-rheumatic condition, benign musculoskeletal pain was the most common (61.8%), followed by a combination of somatic conditions (11.6%), and non-inflammatory rash (7.7%).ConclusionIn this analysis of new patient referrals to a large pediatric rheumatology center, the majority of patients were diagnosed with a non-rheumatic condition. As a worsening supply-demand gap threatens the field of pediatric rheumatology, increased emphasis should be placed on reducing non-rheumatic disease referrals.

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS): Myth or Reality? The State of the Art on a Controversial Disease.

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) syndrome is one of the most controversial diseases in pediatric rheumatology. Despite first being described more than 25 years ago as the sudden and rapid onset of obsessive-compulsive disorder (OCD) and/or tic disorder symptoms as complications of a Group A beta-hemolytic Streptococcus (GAS) infection, precise epidemiological data are still lacking, and there are no strong recommendations for its treatment. Recent advances in the comprehension of PANDAS pathophysiology are largely attributable to animal model studies and the understanding of the roles of Ca++/calmodulin-dependent protein kinase (CaM kinase) II, disrupted dopamine release in the basal ganglia, and striatal cholinergic interneurons. The diagnosis of PANDAS should be made after an exclusion process and should include prepubescent children with a sudden onset of OCD and/or a tic disorder, with a relapsing/remitting disease course, a clear temporal association between GAS infection and onset or exacerbation of symptoms, and the association with other neurological abnormalities such as motoric hyperactivity and choreiform movements. Antibiotic medications are the primary therapeutic modality. Nonetheless, there is a paucity of randomized studies and validated data, resulting in a scarcity of solid recommendations.

Anakinra and hepatotoxicity in pediatric rheumatology: a case series

BackgroundAnakinra is a recombinant interleukin-1 (IL-1) receptor antagonist used in systemic juvenile idiopathic arthritis (sJIA), refractory Kawasaki disease (KD) and cryopyrin-associated autoinflammatory syndrome (CAPS). Anakinra associated hepatotoxicity, while rare, has been described in several cases in daily practice. ​In this case series the authors describe three pediatric patients with this side effect in the setting of severe macrophage activation syndrome (MAS) in KD and sJIA.Case presentationThe first patient was a 12-year-old boy who presented with fever, maculo-papular exanthema and polyarthralgia. Tonsillitis, distal limb induration and tender cervical lymph nodes were observed. Erythrocyte-sedimentation rate (ESR), C-reactive protein (CRP), ferritin (11,975 ng/mL), D-dimers (5,98 mg/L FEU) and soluble CD25 (3645 pg/mL) levels were elevated. Exclusion of sepsis / toxic shock syndrome warranted introduction of IV methylprednisolone and immunoglobulin (IG IV), with partial response. A MAS secondary to KD was assumed, and anakinra 2 mg/kg/day was introduced. Twenty days later he developed new-onset nausea and severe cyto-cholestasis, normalizing after 2 months of drug discontinuation. Posterior onset of polyarthritis and evanescent lead to a final diagnosis of sJIA. The second patient was a 2-year-old boy with a 10-day history of fevers, generalized rash, hepatosplenomegaly and strawberry tongue. Leucocytosis with neutrophilia and elevated CRP were observed. Initial treatment with IVIG in the setting of incomplete KD was ineffective. Mild anaemia, leukopenia and very high serum ferritin (maximum 26,128 ng/mL) ensued. Presumptive sJIA associated MAS was treated with IV methylprednisolone and anakinra 2 mg/kg/day, with prompt response. Four weeks later transaminitis was detected, and temporary anakinra suspension led to normalisation of laboratorial values. The third case related to a 4-year-old boy presenting with fever, maculopapular rash and cervical lymphadenopathy. CRP and ESR were elevated, and KD was diagnosed. IVIG and methylprednisolone were initiated with clinical worsening, warranting for anakinra introduction at 2 mg/kg/day. After three weeks, liver enzymes progressively elevated, resolving on 2 weeks of anakinra discontinuation.ConclusionsTo the best of our knowledge, this is the first case series describing anakinra associated hepatotoxicity in pediatric patients with rheumatic diseases other than sJIA, bringing additional insight to therapeutic monitoring in patients undergoing this treatment.

Successful use of extracorporeal membrane oxygenation for life‐threatening macrophage activation syndrome after treatment with tocilizumab in an systemic juvenile idiopathic arthritis patient

AbstractMacrophage activation syndrome (MAS) is a rare, potentially life‐threatening condition in rheumatic diseases. The primary treatments consist of high‐dose corticosteroids and immunosuppressive drugs, although more recently, cytokine inhibitors like anakinra or tocilizumab (TCZ) have been reported. We present a case of a child with systemic juvenile idiopathic arthritis (sJIA). After receiving a single infusion of TCZ, the child developed progressive hypoxia and was subsequently transferred to the pediatric intensive care unit (PICU) after 4 days. An immediate postintubation chest X‐ray revealed a diffuse exudative lesion. Despite continuous efforts to provide mechanical ventilation and respiratory support, the patient's oxygen saturation continued to decline. Moreover, the patient developed hemodynamic compromise, necessitating the administration of norepinephrine. Eventually, vasopressin and dopamine were added to maintain stable hemodynamics. After an intensive but ineffective treatment, extracorporeal membrane oxygenation (ECMO) was initiated in the PICU after 16 h. The patient successfully recovered and was weaned off ECMO support after 60 h. Following discharge from the PICU, given the severe refractory clinical features, we made an attempt to readminister TCZ treatment. However, within half an hour of TCZ infusion, the patient experienced anaphylaxis characterized by palpitations and chest tightness, leading to the discontinuation of TCZ. TCZ, as a biological agent, is commonly used in the treatment of sJIA. Nonetheless, the occurrence of MAS and anaphylaxis following TCZ administration for sJIA may be more prevalent than previously recognized. Pediatric rheumatologists should exercise caution when initiating TCZ for active sJIA. Furthermore, we want to underscore the importance of life‐saving techniques such as ECMO for sJIA patients in emergency situations.

‘The current mental health status of children and young people with JIA, and their wider family’: a charity partner collaboration survey

BackgroundThis paper presents insight into the scale of mental health concerns for families who have a child or young person with a diagnosis of Juvenile Idiopathic Arthritis (JIA) living in any of the four nations of the United Kingdom (UK). The study’s objective is to share the current experiences of those that responded to a charity survey and consider future work to improve mental health support.MethodsThis work was initiated and led by five UK charity partner organisations working with families affected by JIA. Parents/carers of a child or young person with JIA, and young people with JIA, submitted self-completion online questionnaires. The questionnaire asked 19 core questions, with a focus on the mental health impact of having and living with a JIA diagnosis. Questionnaires were delivered via charity partner UK-wide mailing lists and social media.ResultsQuestionnaire were completed by 291 participants over a 3-week period in February 2022. The majority of respondents were parents (229, 79%), 103 children had been diagnosed for over six years (35%), and 131 (45%) received shared care between paediatric rheumatology centres. In total, 168 (59%) children and young people with JIA had received, were currently receiving or were waiting for mental health support. Parents reported that their child’s diagnosis impacted their own mental health (218, 82%). Children and young people reported never being offered mental health support during appointments for JIA (157, 54%), and 71 (50%) of these had never received support.ConclusionChildren and young people with JIA have significant mental health sequelae from their diagnosis. Our findings found that nearly 60% of our respondents have had or are requiring mental health support, with significant numbers of parents/carers reporting difficulties in accessing care for their child’s mental health or their own mental health, due to their child’s diagnosis. This unique collaborative charity-led study, illustrates the importance of timely and accessible mental health support. Further work is needed to understand why best practice guidance for mental health support is not being met consistently and to identify how to embed it into standard rheumatology care.

Advances in the Diagnosis and Treatment of Enthesitis-Related Arthritis.

Enthesitis-related arthritis (ERA) represents 5-30% of all cases of juvenile idiopathic arthritis (JIA) and belongs to the spectrum of the disorders included in the group of juvenile spondyloarthritis. In the last decade, there have been considerable advances in the classification, diagnosis, monitoring, and treatment of ERA. New provisional criteria for ERA have been recently proposed by the Paediatric Rheumatology INternational Trials Organisation, as part of a wider revision of the International League of Associations for Rheumatology criteria for JIA. The increased use of magnetic resonance imaging has shown that a high proportion of patients with ERA present a subclinical axial disease. Diverse instruments can be used to assess the disease activity of ERA. The therapeutic recommendations for ERA are comparable to those applied to other non-systemic JIA categories, unless axial disease and/or enthesitis are present. In such cases, the early use of a TNF-alpha inhibitor is recommended. Novel treatment agents are promising, including IL-17/IL-23 or JAK/STAT pathways blockers.

Gray zone in the spectrum of autoinflammatory diseases: familial Mediterranean fever accompanying periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome: single-center experience.

Despite the advanced knowledge concerning autoinflammatory diseases (AID), more data regarding the optimal treatment options and outcomes of the children who met the criteria of more than one AID are required. This study aimed to describe the demographic and clinical characteristics of children from familial Mediterranean fever (FMF)-endemic countries who meet both the FMF and the periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome criteria. Moreover, we aimed to measure the response rates to colchicine and tonsillectomy and evaluate the factors affecting the colchicine response in these patients. The study was conducted at pediatric rheumatology tertiary centre. A total of 131 patients (58 females; 73 males) who met both the modified Marshall and pediatric FMF criteria were included. The median age at onset was 18months (1-77months), and the mean age at diagnosis was 47 ± 21.88months. The median interval between episodes was 21 (7-90) days. The median disease duration was 46 (6-128) months. Consanguineous marriage was detected in 17 (13%) of the patients. The most common clinical finding was fever (100%), followed by exudative pharyngitis (88.5%), abdominal pain (86.3%), arthralgia (61.8%), stomatitis (51.1%), adenitis (42%), myalgia (28.7%), chest pain (16%), maculopapular rash (12.2%), arthritis (8.4%), and erysipelas-like rash (4.6%). MEFV gene variants were identified in 106 (80.9%) patients. The most common variants were M694V heterozygous (29%). We found that patients with tonsillopharyngitis, aphthous stomatitis, and PFAPA family history were more likely to be colchicine-resistant and tonsillectomy responsive, while those with exon 10 MEFV gene mutations were more prone to have a favorable response to colchicine. Conclusion: PFAPA syndrome patients with exon 10 MEFV gene mutation, showing typical FMF symptoms, should be treated with colchicine, even after tonsillectomy. In multivariate analysis, PFAPA family history and lack of exon 10 MEFV gene mutations were independent risk factors for colchicine resistance. Thus, tonsillectomy may be recommended as a possible treatment option for these patients. It has yet to be clarified when colchicine treatment will be discontinued in patients whose attacks ceased after tonsillectomy that was performed due to colchicine unresponsiveness. What is Known: • A certain number of patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome concomitantly fulfill the familial Mediterranean fever (FMF) criteria. • While colchicine is proposed as a first treatment choice in familial Mediterranean fever (FMF), corticosteroids are recommended as a first-line treatment in PFAPA syndrome patients. What is New: • In patients with concomitant PFAPA syndrome and FMF, PFAPA family history and lack of exon 10 MEFV gene mutation are predictive factors of colchicineresistance. • The presence of exon 10 MEFV gene mutations in patients with concomitant FMF and PFAPA syndrome has a favourable effect on response to colchicine treatment.

Bringing Reproductive Health Guidelines Into Fellowship Training: A National Survey of Adult and Pediatric Rheumatology Fellows and Program Directors.

This study seeks to assess rheumatology fellows' (RFs') and program directors' (PDs') interests in different educational tools and methods and to facilitate curriculum development for reproductive health related to rheumatic disease. Constructs were conceptualized in four dimensions: 1) RF and PD confidence in their current curriculum relating to the American College of Rheumatology (ACR) Reproductive Health Guidelines (RHGs), 2) personal interest in this topic, 3) opinions of the importance of this topic, and 4) interest in a range of learning materials and educational experiences. The final survey was distributed to 753 RFs and 179 PDs in the United States using the ACR Committee on Training and Workforce email list. Response rates were 13% (n=98) for RFs and 25% (n=44) for PDs. Both groups indicated more interest in the topic than confidence in their curriculum and rated summary sheets, question banks, didactics, and online modules higher than nine other educational tools or methods. Despite interest in the topic, 38% of RF respondents and 24% of PD respondents were unaware of the recently published ACR RHGs. RFs and PDs consider reproductive health very important and report high personal interest in this topic. In contrast, both groups indicated lower confidence in current curricula, and substantial proportions of both groups were unaware of recently published guidelines. RFs' and PDs' interests in specific educational modalities are aligned. Curriculum development efforts should prioritize summary sheets, question banks, didactics, and online modules. Efforts are needed to address the educational needs of practicing rheumatologists and other professionals caring for patients with rheumatic disease.

Treat-to-target strategies for the management of familial Mediterranean Fever in children

BackgroundThe objective of this initiative was to develop a treat-to-target (T2T) approach for the management of patients with Familial Mediterranean Fever (FMF), including the definition of a complex treatment target, and establish strategies that improve patient care and long-term outcome.MethodsAn initial set of statements as well as a flow chart visualising the proposed concept was developed. To adapt the preliminary statements to the current state of knowledge, a systematic literature search was performed and the modified statements were subject to a Delphi approach. To ensure the applicability of the statements in daily practice, an online survey was conducted among paediatric rheumatologists in Germany. In addition, data from the national AID-NET registry were analysed with respect to therapeutic response.ResultsThis T2T initiative yielded a total of 26 statements guiding FMF management with respect to diagnosis, treatment targets, treatment strategies and monitoring. The online survey identified cut-off values for inflammatory markers indicating treatment intensification and appropriate measures in case of colchicine intolerance or non-adherence. The analysis of data derived from the national AID-NET showed that colchicine therapy was successfully terminated in 61% of patients (27 out of 44) with heterozygous MEFV mutations. Multidimensional treatment targets incorporating objective and subjective reported outcome measures were developed. These provide the basis for stratifying patients into the following treatment paths: continue colchicine, persisting attacks / inflammation, colchicine intolerance, persisting arthritis, colchicine reduction and adjustment/reduction of biologics.ConclusionsThe proposed consensus treatment plan for the management of FMF incorporates multidimensional targets allowing transparent treatment decisions, which will promote personalised disease management and increase adherence to therapy.

Practice Analysis and Determining the Knowledge and Skills Expected of a Pediatric Rheumatologist.

The scope of clinical practice of pediatric rheumatology has been difficult to define. The lack of definition prevents an accurate understanding of the knowledge and skills required of practicing pediatric rheumatologists. A practice analysis process was used with the goal of establishing a precise definition of clinical pediatric rheumatology practice. The definition of practice will improve training and the creation of relevant certification examinations. A practice analysis approach used meetings with a representative panel of pediatric rheumatologists to create a practice analysis document (PAD) and a test content outline (TCO). Panel experience, entrustable professional activities, and the current TCO were used to guide the process. Surveys were administered to fellowship program directors (PDs) and a broader group of practicing pediatric rheumatologists to revise and validate the content of the documents. A PAD was created, including 14 categories of conditions diagnosed or managed by pediatric rheumatologists and eight domains of practice, with the tasks, knowledge, and skills required to perform these tasks. The survey of PDs (n=10) indicated that the PAD content is important and useful. A TCO was created and consists of 18 domains used to define content areas to be assessed on certifying examinations. The survey of practicing pediatric rheumatologists (n=127) indicated that the TCO domains are relevant. A practice analysis process produced valuable resources for defining the clinical practice of pediatric rheumatology. The PAD and TCO can be used to develop more specific training curricula and to create relevant certification examinations.

97 Handwriting Speed in Juvenile Idiopathic Arthritis Using the Detailed Assessment of Speed of Handwriting

Abstract Background Juvenile idiopathic arthritis (JIA) is the most common cause of arthritis in children. Common symptoms include pain, joint stiffness, joint swelling, fatigue, and decreased physical function. Over 50% of children have hand or wrist involvement and handwriting is the most commonly reported functional limitation in daily activities. To date there has been limited study of the specific limitations of handwriting in children with JIA. Objectives To better understand handwriting limitations in children with JIA, this pilot study aimed to: (a) describe handwriting speed measured by the Detailed Assessment of Speed of Handwriting (DASH), a standardized assessment of handwriting speed; (b) compare the DASH scores with age- and sex-matched normative data; (c) examine the association between DASH scores and active wrist and hand arthritis; and (d) explore associations between DASH scores and grip strength, quality of life, function, and pain. Design/Methods Participants diagnosed with JIA and actively followed by the paediatric rheumatology clinic at a large tertiary care centre underwent physician assessment with active joint count, occupational therapist (OT) assessment including administration of the DASH, and grip strength measurement by a physiotherapist. Participant-reported outcomes included questionnaires on function (Childhood Health Assessment Questionnaire [CHAQ]), pain, and quality of life (QOL). Results A total of 12 participants aged 9-15 years (M = 12.7y) completed the study. The mean DASH score was 35th percentile (SD = 23) for all participants, 58th percentile (SD = 14) with active hand/wrist arthritis, 25th percentile (SD = 19) with history of hand/wrist arthritis, and 24th percentile (SD = 25) with no history of hand/wrist arthritis. Grip strength was low overall (M = 18th percentile, SD = 28), and lower in participants with active hand/wrist arthritis (M = 4th percentile, SD = 5) and history of hand/wrist arthritis (M = 5th percentile, SD = 7). DASH scores were negatively associated with grip strength (r = -.31), and positively associated with QOL (r = .41) and pain (r = .43). There was no relationship between the DASH and the CHAQ. Conclusion Handwriting speed difficulties are common in children with JIA and may not relate to arthritis disease activity, pain, or function. Handwriting speed may be used in the clinic as a screen to identify children who may benefit from a full OT handwriting assessment. In the absence of access to OT, general guidance can be provided to schools to support a child with JIA in the classroom.