Pediatric Rheumatologic Conditions Research Articles

OA23 Celebrating the achievements and efforts of children, young people and their siblings – a charity award badge scheme for families living with paediatric rheumatological conditions in the UK

OA23 Celebrating the achievements and efforts of children, young people and their siblings – a charity award badge scheme for families living with paediatric rheumatological conditions in the UK

O003. Validity and acceptability of the Swahili pGALS screening tool at a tertiary referral hospital in Kenya

Abstract Background A common reason implicated in the severity of presentation and mortality caused by most rheumatic conditions among children is the delay of presentation to a paediatric rheumatologist. Evidence suggests poor practice of paediatric musculoskeletal clinical skills could be a cause for delay and that history suggestive of musculoskeletal disease alone has poor sensitivity in detecting rheumatological conditions. The paediatrics gait, arms, legs and spine (pGALS) musculoskeletal screening tool was therefore developed to encourage early detection of paediatric rheumatological conditions. It has been validated and translated successfully in other countries. Swahili is well understood and spoken in Kenya and other East African countries and for the pGALS to be incorporated in our setting, we needed to translate and asses its validity in Swahili. The objective is todetermine the sensitivity and specificity of the translated Swahili pGALS screening tool in detecting abnormal joints among children aged 5-16 years. To measure the acceptability of the Swahili pGALS screening tool with reference to time taken performing the examination and the discomfort as perceived by the children and their guardians. Methods We conducted a diagnostic utility study. The three English pGALS screening questions were translated into Swahili according to the WHO standard of translation of a tool and the manoeuvres were performed by a ‘copy me’ approach. The ‘copy me’ approach entailed asking the participants to imitate the research assistants as various manoeuvres were done. Children between the ages of 5–16 years seen at the Aga Khan University Accident and emergency department and family medicine clinic who spoke Swahili and had symptoms suggestive of musculoskeletal conditions were enrolled using systematic random sampling. Children who were already on follow up with the Aga Khan paediatric rheumatologist were excluded. Children had the Swahili pGALS and gold standard review (with the paediatric rheumatologist) on the same day. Guardians were asked to answer questions on acceptability with regards to time taken to perform the tool and level of discomfort. Those with possible rheumatological condition as per the gold standard were offered follow up. Results We enrolled one hundred children with a median age of the children was nine years (IQR 7–11). The sensitivity and specificity of the Swahili pGALS screening tool were 76.8% (CI 63.6–87.0%) and 40.0% (CI 23.9–57.9%). The diagnostic accuracy was 62.7% (CI 52.1–72.1%) and the ROC area was 0.58 (CI 0.48–0.68). The median time taken to perform the Swahili pGALS was 5.0 minutes (IQR 3.5-6.0 minutes). Ninety percent of the guardians found the practice of pGALS to have ‘no’ to ‘some’ discomfort. Conclusions This study had a lower sensitivity and specificity than what was seen with similar studies. Although the sensitivity seen was low, it was still within acceptable range for a screening tool and may still be applicable in Kenya and other Swahili speaking countries if used in conjunction with good rheumatological history to refer early the 76% of children picked up by the screening tool. However, the low specificity implies that relatively large number of false positives would still need to be reviewed by a rheumatologist if the tool is adapted for use. The median time taken to perform the tool was also longer than observed in previous studies but the tool was overall deemed acceptable by majority of the guardians/ parents. Keywords pGALS, Kenya, Swahili, Paediatric, Rheumatology

OP0278-PARE PROVIDING SUPPORT TO FAMILIES OF CHILDREN NEWLY-DIAGNOSED WITH CHILDHOOD ARTHRITIS: A PATIENT AND PARENT-LED PILOT STUDY TO DEVELOP AND ASSESS ‘A LITTLE BOX OF HOPE’ SUPPORT PACKS

Background:Juvenile Idiopathic Arthritis (JIA) is a heterogenous group of autoimmune disorders characterised by chronic joint inflammation, diagnosed in around 1 in 1,000 children and young people (CYP) under the age of 16. Delays in diagnosis are common [1], awareness is low, and paediatric rheumatological conditions have a considerable impact on young people and their families [2]. A lack of understanding amongst families of newly-diagnosed children leads to uncertainty and anxiety.Objectives:This patient and parent-led project developed a resource pack for parents of CYP newly-diagnosed with JIA, to provide information and support. Following a pilot, feedback from recipients was collated and analysed to help improve future provision.Methods:A young person with JIA identified the need for direct family support. Juvenile Arthritis Research (a UK charity) developed a unique pack of support information, containing resources for both children and their families - called A Little Box Of Hope. This included information about JIA and support services available for families, as well as Kipo (a children’s book about JIA) and accompanying finger puppet. Clinicians at one paediatric rheumatology centre provided information about the packs to newly diagnosed families, who then requested a free box to be posted to them.Following an initial pilot study, recipients were invited to complete a short online questionnaire and provide feedback to allow refinement of the provision.Results:Respondents were asked a series of questions, each on a scale of 1-5. Every respondent gave a score of 5 in response to “What do you think of the idea of A Little Box Of Hope?”Every parent of children under ten years old gave a score of 5 for every item when asked “How useful is each item in your Little Box Of Hope?”Respondents also gave free-text comments:* “It was very well thought out and I felt supported”* “I know so much more about JIA now than I did before. I cannot thank you enough.”* “It was extremely useful and made me feel supported during a very stressful time and this enabled me to support my son more effectively.”* “It made my daughter feel less alone.”Some parents of older children felt that some information specifically for teens would be useful, and a Teen pack is being developed.Conclusion:Recipients of A Little Box Of Hope have found the information useful and feel supported. Following the pilot study, we have developed My JIA, a booklet reviewed by a multi-disciplinary clinical team, with comprehensive information for families affected by JIA. A Teen pack, for children aged around 10 years or older, is being developed to provide targeted support to this group.The COVID-19 pandemic has adversely affected access to healthcare services, increasing the need for remote parent- and charity-provided support through A Little Box Of Hope.As such, we intend to expedite the roll-out of the project across the country building on the success of the pilot project.

P16 Is there an association between paediatric rheumatological disease and autism?

Abstract Background The prevalence of autistic spectrum disorder (ASD) in children in UK is ∼1 in 100. There is emerging evidence that dysregulation of the immune system may be an underlying cause of ASD. The CARRA registry from the USA reported a frequency of 0.3% co-morbidity of autism in children with JIA. There is a paucity of data from the UK reporting this association. Methods The department’s database of all patients that attended the local paediatric rheumatology clinic was reviewed over a 12-month period from April 2018 to April 2019. Diagnoses were grouped broadly into inflammatory (JIA, systemic disease, non-JIA uveitis) and non-inflammatory (mechanical, bone and collagen disorder and other). Those with a co-morbidity of autism were also identified within inflammatory and non-inflammatory groups. Results There were 196 individual patients within the cohort of paediatric rheumatology patients seen in Bradford in April 2018 to April 2019. These were subcategorised into JIA (N = 79,40%), mechanical (N = 56, 29%), systemic rheumatological disease (N = 31, 16%), bone and collagen disorders (N = 12, 6%), other non-inflammatory diagnoses (N = 11, 6%), non-JIA associated uveitis (N = 7, 3%). This cohort was divided into 117 patients with inflammatory paediatric rheumatological conditions and 79 patients with non-inflammatory causes for joint pain. Nine children (see Table 1) had a co-morbidity of autism, of which 6 children had an inflammatory diagnosis and 3 a non-inflammatory cause for joint pain. The prevalence of autism in our cohort of children with paediatric rheumatological disease was 5%, which is higher than expected from a UK prevalence of autism of 1%. P16 Table 1: Patients with Autism in Paediatric Rheumatology cohort. Diagnosis Age Age at presentation to paediatric rheumatology Gender Inflammatory/ Non-inflammatory Oligo JIA 5y 4y Male Inflammatory Oligo JIA 11y 10y Female Inflammatory Oligo JIA 13y 7y Female Inflammatory Ext- oligo JIA 18y 8y Male Inflammatory Ext- oligo JIA 14y 7y Male Inflammatory CTD 15y 2y Female Inflammatory Hypermobility 16y 16y Male Non-inflammatory Mechanical 14y 14y Female Non-inflammatory Mechanical 11y 11y Female Non-inflammatory Conclusion In this cohort of paediatric rheumatology patients there was a higher prevalence of autism than the UK average. Two of these patients were diagnosed with autism after presenting to our service. This association is compatible with the emerging recognition of dysregulation of the immune system as a potential underlying cause of ASD. It is important to consider the co-morbidity of autism in children presenting to paediatric rheumatology clinic and potentially paediatric rheumatological conditions in children already diagnosed with autism, where there may be a delay in their presentation due to communication difficulties. There is the need for a larger UK study to review this association further. Conflicts of Interest The authors declare no conflicts of interest.

P54 Pneumocystis jirovecii prophylaxis in patients on rituximab

Abstract Background Rituximab is a chimeric monoclonal antibody that depletes the B cell population by targeting cells bearing the CD20 surface marker and is used widely in the management of paediatric rheumatological conditions like juvenile systemic lupus erythematosus (JSLE), juvenile dermatomyositis (JDM), mixed connective tissue disease (MCTD) and juvenile idiopathic arthritis (JIA). Pneumocystis jirovecii pneumonia (PCP) is a potentially fatal opportunistic infection associated with congenital and acquired defects in T cell–mediated immunity. Our guideline did not recommend prophylaxis against PCP for patients on rituximab, unlike patients on cyclophosphamide, who are on cotrimoxazole until three months after cessation of the treatment. Cyclophosphamide is an alkylating agent which affects both B and T lymphocytes. Following the death of 16 year-old girl with JSLE due to PCP, the team reviewed the possible contributing factors, undertook a review of literature and discussed this at multi-disciplinary meetings involving the microbiology and immunology teams. This patient was found to have other risk factors for PCP – low CD4 T cells, concomitant use of corticosteroids and hypogammaglobulinaemia (IgG 3.0g/L). Although there is limited evidence that rituximab on its own increases the risk of PCP, there is emerging data that B cells may have a role in the protection against pneumocystis. Following the review, it was concluded that children on rituximab and an additional immunosuppressant (including corticosteroids) should receive prophylactic cotrimoxazole to cover PCP. Methods Retrospective audit carried out by the team to look at adherence to the new guideline regarding the use of cotrimoxazole for PCP prophylaxis in patients who have had rituximab between August 2017 and May 2019. Results P54 Table 1 Total number of patients who had rituximab 10 Number of patients who had other immunosuppressants concomitantly / recently (within previous 3 months) 7 Number of patients on rituximab monotherapy 2 Number of patients who are 6 months post-treatment 1 Number of patients with other risk factors for PCP 1 (hypogammaglobulinaemia) Number of patients who are eligible for prophylaxis, as per the guideline 8 (7 for concomitant immunosuppression and 1 for hypogammaglobulinaemia) Number of patients on cotrimoxazole 7 (87.5%) - one of the patients is on methotrexate, which is advised not to combine with cotrimoxazole We achieved 87.5% compliance in prescribing cotrimoxazole for PCP prophylaxis to all rheumatology patients receiving rituximab alongside another immunosuppressant agent; the one patient who this was not adhered to was due to potential adverse drug pharmacodynamic interaction between cotrimoxazole and methotrexate. Conclusion Although the current evidence points to increased risk of PCP in patients with inherited and iatrogenic defect of T cell function, there is emerging evidence that B cells may have a role too. Hence more work is required to determine the risk of PCP in patients on B cell targeted therapy (BCTT) and the need for prophylaxis. Conflicts of Interest The authors declare no conflicts of interest.

058. How school attendance relates to perceived and objective measures of disease severity in paediatric rheumatological conditions – a service evaluation project

058. How school attendance relates to perceived and objective measures of disease severity in paediatric rheumatological conditions – a service evaluation project

Neutrophils in pediatric autoimmune disease.

As first immune responders, neutrophils are essential mediators of host defense, and also contribute to chronic pathologic inflammation at the crossroads of innate and adaptive immunity. In this review, we will highlight the current understanding of the role of neutrophils in pediatric rheumatology, with a focus on juvenile idiopathic arthritis (JIA) and lupus. In inflamed tissues, neutrophils extrude neutrophil extracellular traps containing autoantigen that potentially drives lupus and rheumatoid factor-positive JIA. However, the contribution of neutrophil extracellular traps to pathogenesis remains an area of intense investigation. In JIA joints, neutrophils are activated to such an extent that associated circulating levels of S100A proteins may serve as biomarkers, correlating with disease activity, predicting response to treatment and heralding flares. Beyond the effects of 'normal' activation, neutrophils in JIA and lupus display dysregulation in gene expression, subset activation, and apoptosis. The role of neutrophils in pediatric rheumatology is an understudied area, but garnering increasing attention. Although clearly implicated in JIA and lupus, the specific contributions of neutrophils to pathogenesis and the use of neutrophil activity surrogates as biomarkers require further study. Clarification of these outstanding issues will have implications for diagnosis and treatment of pediatric rheumatologic conditions.

Benign pneumatosis intestinalis in a pediatric patient with multiple risk factors including granulomatosis with polyangiitis: A case report and review of the literature

ObjectiveTo describe the first reported case of pneumatosis intestinalis (PI) in a pediatric patient with granulomatosis with polyangiitis (GPA) and multiple other risk factors and review the literature for PI in adult and pediatric rheumatologic conditions. MethodsA PubMed search was completed using the search phrase “pneumatosis intestinalis.” Searches were limited to humans and the English language, and remaining articles involving patients with rheumatologic diagnoses were identified and included in our discussion. ResultsThis is the first reported of case of PI in a patient with underlying GPA or antineutrophil cytoplasmic antibody-associated vasculitides. Out of 90 previously reported cases of PI in patients with rheumatologic conditions, 79 cases were in adults and 11 in children. There were 30 patients with systemic sclerosis, 18 with MCTD/overlap syndrome, 18 with dermatomyositis or polymyositis, 16 with SLE, and 8 with other diagnoses. Overall, 81% of the patients were on corticosteroids or other immunosuppressants prior to development of PI. The most common presenting symptom was abdominal pain, and 51% of patients had associated pneumoperitoneum. ConclusionsPI can be associated with a broad spectrum of rheumatic diseases, including GPA, and should be included in the differential diagnosis of patients with rheumatologic conditions and nonspecific gastrointestinal symptoms.

Impact of the European paediatric legislation in paediatric rheumatology: past, present and future

Conducting clinical trials in paediatric rheumatology has been difficult mainly because of the lack of funding for academic studies and the lack of interest by pharmaceutical companies in the small...

Current Perspectives on Ophthalmic Manifestations of Childhood Rheumatic Diseases

Inflammatory eye diseases are an important manifestation of many pediatric rheumatologic conditions. Early screening and diagnosis are imperative as these illnesses can not only result in significant visual morbidity but are also an indicator of systemic inflammation. Time to presentation of ocular inflammation varies significantly and can range from many years prior to the onset of systemic symptoms to well after the diagnosis of the rheumatologic disorder. Due to this variability in presentation, careful monitoring by an ophthalmologist is vital to preventing ocular complications and preserving vision. Both local and systemic immunosuppressive medications have been effective in the management of ocular disease. In this review, we will focus on the known ophthalmologic manifestations of common pediatric rheumatologic diseases and discuss recent advances in therapeutic considerations for these conditions.