Pediatric Rheumatology Clinic Research Articles

Ready to leave? – Adolescents’ and parents’ perceptions of transition from paediatric to adult rheumatology care

BackgroundIn Sweden, approximately 2000 children live with Juvenile Idiopathic Arthritis (JIA). About half of them continue to have an active disease and need to transfer to adult rheumatology care. This study aimed to investigate Swedish adolescents’ and parents´ perceptions of readiness for transition from pediatric to adult rheumatology care.MethodsThe study was a cross-sectional quantitative study. Patients at the pediatric rheumatology clinic at a university hospital in Sweden and members of The Swedish National Organization for Young Rheumatics aged 14–18 and their parents were invited to participate in the study. Data was collected with the Readiness for Transition Questionnaire (RTQ) focusing on adolescents' transition readiness, adolescents' healthcare behaviors and responsibility, and parental involvement. Data were analyzed with descriptive statistics. Comparative analyses were made using non-parametric tests with significance levels of 0.05 as well as factor analyses and logistic regression.ResultsThere were 106 adolescents (85 girls, 20 boys) and 96 parents answering the RTQ. The analysis revealed that many adolescents and parents experienced that the adolescents were ill-prepared to take over responsibility for several healthcare behaviors, such as booking specialty care appointments, calling to renew prescriptions and communicating with medical staff on phone and to transfer to adult care. Parents and adolescents alike stated that it was especially difficult for the adolescents to take responsibility for healthcare behaviors meaning that the adolescents had to have direct interaction with the healthcare professionals (HCPs) at the paediatric rheumatology clinic, for example to renew prescriptions. It was evident that the adolescents who perceived they were ready to take responsibility for the aspects related to direct interaction with HCPs were more overall ready to be transferred to adult care.ConclusionAdolescents need more support to feel prepared to transfer to adult care. With the results from this study, we can develop, customize, and optimize transitional care programs in Sweden for adolescents.

Comparative analysis of pediatric rheumatic patient growth patterns against norms: A cross-sectional study conducted in an Eastern Indian hospital

Background. Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease. Rheumatic diseases are a major cause of chronic illness in children around the world. SLE is a further prevalent inflammatory illness. Aims and objectives. To study different growth parameters of pediatric patients attending pediatric rheumatology clinic, to compare the growth parameters with age and sex matched controls and to compare growth among different types of pediatric rheumatic patients. Method. Different growth parameters and SMI (for children above 9 years) were recorded for patients attending pediatric rheumatology OPD having disease duration more than one year. Results. Among 121 patients, JIA was most common followed by SLE. Among JIA subtypes, SOJIA is most common. Mean age of presentation was earlier in SOJIA, late in JoAS. SLE patients had larger duration of illness prior to diagnosis than JIA patients. In JIA patients, mean height was significantly less than controls. SOJIA and polyarticular variety had significantly less weight and height compared to controls. SLE patients had significantly less weight and height compared to control. Anthropometric parameters were significantly more in SLE patients compared to JIA cohort. There was significantly more delayed puberty both in JIA and SLE patients compared to controls. Conclusion. JIA was most common, followed by SLE. Among JIA patients SOJIA variety was most common, JIA patients had significantly lower height than controls. SLE patients had significantly lower weight and height than controls. Delayed puberty was significantly more in both JIA and SLE patients compared to controls.

Barriers and facilitators to medical care retention for pediatric systemic lupus erythematosus in South Africa: a qualitative study

BackgroundSystemic lupus erythematosus (SLE) is a life-threatening, chronic, autoimmune disease requiring long term subspecialty care due to its complex and chronic nature. Childhood-onset SLE (cSLE) is more severe than adult-onset, and the cSLE population in South Africa has been reported to have an even higher risk than patients elsewhere. Therefore, it is critical to promptly diagnose, treat, and manage cSLE. In this paper, we aim to describe and evaluate barriers and enablers of appropriate long-term care of cSLE South Africa from the perspective of caregivers (parents or family members).MethodsCaregivers (n = 22) were recruited through pediatric and adult rheumatology clinics. Individuals were eligible if they cared for youth (≤ 19 years) who were diagnosed with cSLE and satisfied at least four of the eleven ACR SLE classification criteria. Individual in-depth, semi-structured interviews were conducted between January 2014 and December 2014, and explored barriers to and facilitators of ongoing chronic care for cSLE. Data were analyzed using applied thematic analysis.ResultsFour barriers to chronic care engagement and retention were identified: knowledge gap, financial burdens, social stigma of SLE, and complexity of the South African medical system. Additionally, we found three facilitators: patient and caregiver education, robust support system for the caregiver, and financial support for the caregiver and patient.ConclusionThese findings highlight multiple, intersecting barriers to routine longitudinal care for cSLE in South Africa and suggest there might be a group of diagnosed children who don’t receive follow-up care and are subject to loss to follow-up. cSLE requires ongoing treatment and care; thus, the different barriers may interact and compound over time with each follow-up visit. South African cSLE patients are at high risk for poor outcomes. South African care teams should work to overcome these barriers and place attention on the facilitators to improve care retention for these patients and create a model for other less resourced settings.

The transition process for paediatric rheumatology clinic patients at a single tertiary paediatric rheumatology centre in Australia.

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. Retrospective review of clinical data from the rheumatology database of paediatric rheumatology patients eligible for transition between January 2015 and September 2020. 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%). 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.

Checkpoint inhibitor immunotherapy induced inflammatory arthritis secondary to Nivolumab and Ipilimumab: a pediatric first

BackgroundImmune checkpoint inhibitors (ICIs) have expanded the arsenal of cancer therapeutics over the last decade but are associated with a spectrum of immune-related adverse events (irAEs), including inflammatory arthritis. While these complications are increasingly recognized in the adult population, no cases of inflammatory arthritis irAEs have been reported in the pediatric literature.Case PresentationA 14-year-old female with metastatic epithelioid mesothelioma was referred to the pediatric rheumatology clinic after developing progressive inflammatory joint pain in her bilateral shoulders, hips, and small joints of hands following the second cycle of Nivolumab and Ipilimumab. Initial examinations showed bilateral shoulder joint line tenderness, positive FABERs test bilaterally, tenderness over bilateral greater trochanters, and bilateral second PIP effusions. Her serological profile was notable for positive HLA-B27, positive anti-CCP, negative Rheumatoid Factor, and negative ANA. PET-CT scan performed for disease response following immunotherapy showed symmetric increased metabolic activity primarily involving the supraspinatus, gluteus medius and minimus, and semimembranosus tendon insertions. Her presentation was consistent with a grade 1 irAE that worsened to a grade 2 irAE despite NSAID therapy, prompting a short course of oral prednisolone. She achieved clinical remission of her mesothelioma following six cycles of Nivolumab and Ipilimumab and her inflammatory arthritis was controlled on Celebrex monotherapy.ConclusionsTo our knowledge, this is the first pediatric case of ICI-induced inflammatory arthritis and enthesitis. This case highlights the importance of increasing awareness of diagnosis and management of irAEs in children.

E049 Including psychosocial approaches in paediatric and adolescent rheumatology: a service evaluation of an online art therapy group intervention for children, young people, and families

Abstract Background/Aims Children and young people with long-term physical conditions may develop mental health problems that have an impact upon their daily lives and families. Rates of anxiety and depression in children with juvenile idiopathic arthritis are higher than in peers without this diagnosis. The impact of long-term conditions on children and young people’s mental health and the pressure it puts on family life has been observed and reported in paediatric rheumatology clinics in the UK. Art therapy has long been considered to be a developmentally appropriate way to support children and young people with long-term conditions and it is routinely provided in some NHS services. A service evaluation of manualised online art therapy groups was carried out at the Great North Children’s Hospital to seek further understanding about the accessibility, acceptability, and uptake of this service. Methods A service evaluation was registered and undertaken at the Great North Children’s Hospital, Newcastle Upon Tyne. Art therapy groups consisted of six online 90min sessions with additional resources provided to parents to encourage conversations at home prior to the young people attending the group. Groups were facilitated by a HCPC registered art psychotherapist and included completion of structured activities/worksheets and art making time. Young people who attended the rheumatology service art therapy groups were asked for feedback about their experiences and a audio-recorded focus group style discussion with the art therapy delivery team was conducted. In addition, children and parents were asked to comment on the acceptability of standardised assessment measures that could be utilised in future outcome studies of psychosocial interventions of this kind. Results Thirteen young people who had accessed the art therapy group were included in the service evaluation which was carried out by members of the therapy team and nursing staff. Young people attending the group reported experiencing personal benefits, including valuing opportunities to speak with other young people who had a long-term condition and engagement and sharing a group experience through art activities. Parents responded positively to having time to reflect using the home-based resources and some observed their children appearing calmer and more able to express themselves. Online and digital access difficulties did create barriers to consistent attendance for some group members. Measures of outcome that were considered acceptable for completion by young people and family members included a validated quality of life assessment. Parents and staff reported underestimating the severity of mental health symptoms (anxiety and depression) indicated in young people’s response to completion of a validated measure. Conclusion Online group art therapy was considered to be accessible and acceptable as routinely provided in a paediatric and adolescent rheumatology service. Future research could be undertaken to formally assess the effectiveness of these types of psychosocial interventions. Disclosure S.S. Hackett: None. S. Jandial: None. L. Craig: None. P. Watts: None.

P087 Role of a physiotherapy independent prescriber in a Paediatric Rheumatology setting

Abstract Background/Aims To assess the benefit of having a Physiotherapy Independent Prescriber (PIP) within a Paediatric Rheumatology service at University Hospitals Southampton (UHS). Legislative change in the UK in 2013 enabled physiotherapists to independently prescribe certain drugs that assist in patient management. Independent prescribing by physiotherapists is a relatively contemporary development in role change and purpose. The clients seen by the paediatric rheumatology physiotherapists within our service frequently require medication prescription as part of their review and management. Having the ability to independently prescribe reduces the need for additional medical or nursing input, so improving efficiency and patient experience within the clinic. Methods In our Paediatric Rheumatology service within UHS, our PIP is able to assess and manage the repeat prescriptions for routine follow-up patients with Juvenile Idiopathic Arthritis (JIA), plus alter medication prescriptions in response to clinical findings. The medications the PIP can change/prescribe include Methotrexate, Oral steroids, Non-steroidal anti-inflammatory drugs, Folic Acid and proton-pump inhibitors. This facilitates a greater number of patients to be seen as they do not require appointments with multiple professionals at routine reviews. A satisfaction questionnaire was completed by patients who accessed this service over a 6-month period. Results Over a six-month period of 25 morning clinics, a total of 23 satisfaction questionnaires were completed by those who had medication prescribed by the PIP. Of these, 100% were satisfied with the service they received and the outcome of the appointment. In particular, highest scores were given for communication by the therapist and having knowledge and understanding of medications prescribed. Conclusion Having a PIP in our Paediatric Rheumatology Clinic is well-received by service users and improved patient-experience by limiting the need for multiple appointments and reducing time spent in clinic. Disclosure E. Bhullar: None.

How Safe Are Biological Agents in Pediatric Rheumatology?

Biologic therapy has changed the prognosis of patients with rheumatologic disease. Despite all benefits of the biological agents, adverse events may occur due to their long-term use. The aim of this study is to analyze the adverse events observed in pediatric patients who received biological treatment. This retrospective observational cohort study was conducted between January 2010 and January 2022. File records of 139 patients used biological agents for rheumatologic diseases in a pediatric rheumatology clinic were evaluated. Diagnosis, received treatment, the rationale for stopping treatment, requirement of tuberculosis prophylaxis, presence of an adverse event, and results were recorded. The most used biological therapy was etanercept (41.7%). Anakinra, adalimumab, canakinumab were used in 30.9%, 27.3%, 23.7% of patients, and the others in less than 10%. Totally 491 adverse events (97.9/100 patient-years) were encountered during the duration of biological treatment. The most often adverse event was recurrent upper respiratory tract infection in the patients (31.9/100 patient-years). Elevated aminotransferase levels (10.4/100 patient-years), abdominal pain (7/100 patient-years), and headache (5.2/100 patient-years) were among the other common side effects. Isoniazid (INH) prophylaxis was needed before biological treatment in 20.9% of the patients. Tuberculosis developed in none of the patients followed-up for latent tuberculosis, however, it developed in a patient while receiving etanercept due to noncompliance with his scheduled outpatient visits during etanercept treatment. The most commonly used biological treatments were TNFi and IL-antagonists, and the majority of side effects were infections and laboratory abnormalities. Although the rate of serious adverse events is quite low, close follow-up of patients receiving biological therapy is very important.

Screening for juvenile idiopathic arthritis associated uveitis with laser flare photometry in the pediatric rheumatology office: a prospective observational study

BackgroundJuvenile Idiopathic Arthritis (JIA) Associated Uveitis (JIA-U) remains one of the most serious complications of JIA in children. Historically, pediatric JIA is diagnosed by an Optometrist or Ophthalmologist; however, barriers to scheduling increase wait times that may delay diagnosis and treatment. The purpose of this study was to evaluate laser flare photometry (LFP) use to diagnose JIA-U in the Pediatric Rheumatology clinic for patients with JIA.MethodsThis prospective, observational study assessed pediatric patients diagnosed with JIA without a previous history of uveitis between January 2020 and September 2022. All patients underwent at least one evaluation of both eyes using a Kowa FM-600 laser flare photometer during a routine Rheumatology appointment, as well as a standard slit lamp examination (SLE) by optometry or ophthalmology during routine clinical care. Data collected at patient visits included demographics, JIA characteristics, treatment, LFP readings, and anterior chamber (AC) cell grade score utilizing the SUN grading system. Data were summarized using descriptive analyses and the uveitis false positive rate was calculated.ResultsThe study cohort included 58 pediatric patients diagnosed with JIA. The mean age was 8.4 years (1.2–16.3 years) at diagnosis and 11.9 (4.8–16.5 years) at enrollment. The mean duration of disease at time of enrollment was 42 months (range; 0-157 months). Participants were predominantly female (n = 43, 74.1%) and white/Caucasian race (n = 37, 63.8%). The most common JIA subtypes included persistent oligoarticular JIA (n = 19, 32.8%), and RF negative polyarticular JIA (n = 12, 20.7%). There were 12 ANA positive patients (20.7%). At enrollment, 16 patients (27.6%) were not on medications, with 20 (34.5%) on methotrexate, 20 (34.5%) on adalimumab, 6 (10.3%) on tocilizumab, and 5 (8.6%) on etanercept. During the study period, no eye exams detected active uveitis based on SLE with a SUN grade over 0. However, of the 135 LFP readings, 131 (97.0%) were normal, yielding a false positive rate of 3% (95% CI: 0.8%, 7.4%).ConclusionsLFP is a non-invasive tool that can be utilized in the pediatric rheumatology clinic to evaluate for JIA-U. There is a low false positive rate of LFP when compared with standard slit lamp exam.

Chronic neutropenia in childhood: experience of a tertiary center

ObjectiveTo assess the prevalence of chronic neutropenia (CN) and the clinical profile of patients with CN aged up to 18 years, followed in the pediatric hematology, rheumatology, or immunology outpatient clinic of a tertiary medical center from May 1, 2018, to 30 April 2019. MethodsRetrospective observational study carried out by collecting data from the patient's medical charts. CN was defined as absolute neutrophil count (ANC) below 1.5 × 109/L lasting over three months. Autoimmune neutropenia (AIN) was defined by clinical criteria and an over twofold increase in ANC after glucocorticoid stimulation. AIN was considered secondary when associated with autoimmune or immunoregulatory disorders. Wilcoxon and Fisher's exact tests were used to compare variables; the significance level was 5 %. ResultsA total of 1,039 patients were evaluated; 217 (20 %) presented CN. Twenty-one (2 %) had AIN, classified as primary in 57 % of the cases. The average age at the onset of symptoms was 38.6 months. During follow-up, patients had 4.2 infections on average; frequency was higher among patients with secondary AIN (p = 003). Isolated neutropenia occurred in 43 % of the patients with AIN. Neutropenia resolved in eight (38 %) of the 21 patients with AIN within 19.6 months on average. Eight patients with secondary AIN met the criteria for Inborn Errors of Immunity. ConclusionAIN prevalence was 2 %. Most cases were first evaluated by a pediatric immunologist or rheumatologist rather than a pediatric hematologist. This study highlights the need for a multidisciplinary approach involving a pediatric immunologist, rheumatologist, and hematologist.

Prevalence of tinnitus in juvenile fibromyalgia patients visiting a pediatric rheumatology clinic

Juvenile fibromyalgia (JFMS) is a common disorder in the adolescent population with a prevalence of 1–6%. Our study looked at the prevalence of tinnitus in JFMS patients seen at a pediatric rheumatology clinic between 2016 and 2021. The objective of this study was to retrospectively assess prevalence of tinnitus and compare that with prevalence in non- JFMS patients presenting to the clinic. We also assessed prevalence of other sensory and pain symptoms, Widespread pain index >6 and abdominal pain in these two groups.Of the 290 forms evaluated, tinnitus was present in 31.1 % of JFMS subjects, versus only 3.5 % in non-JFMS subjects. There was a significant association between tinnitus and tingling and numbness among subjects with JFM (p = 0.005). On logistic regression analysis, the odds of having JFMS were 5.2 times higher among tinnitus patients compared to non-tinnitus (p = 0.003, 95 % CI 1.77–15.55). Tingling/numbness were also associated with 21.78 times increased odds for diagnosis of JFMS (p = 0.0003, 95 % CI 4.05–117.21). The odds of having JFMS were 22.6 times higher among patients with Widespread Pain Index >6 (p < 0.0001, 95 % CI 7.88–64.71).Tinnitus is a commonly prevalent condition in patients with JFMS. In patients with JFMS, there is a significant association between tinnitus and tingling/numbness. Further studies are needed to explore the underlying pathogenesis of these symptoms.

Clinicoepidemiological Spectrum of Connective Tissue Diseases in the Pediatric Population in a Tertiary Care Center in North India: A Cross-sectional Observational Study

Abstract Background: Connective tissue diseases (CTDs) are chronic in nature and carry a high risk of morbidity, disability, and mortality if not recognized and treated promptly. Data on clinical spectrum of CTDs in the pediatric age group are sparse from developing countries such as India. Objective: To study the clinicoepidemiological spectrum of CTDs in the pediatric age group. Methodology: A hospital-based, cross-sectional, observational study was undertaken over a period of 16 months from January 2021 to June 2022 in the dermatology outpatient department and pediatric rheumatology clinic in a tertiary care hospital in North India. Clinical and laboratory findings were recorded. Results: A total of 100 children diagnosed with a CTD were included in the study. The mean age was 11.11 ± 4.20 years. Out of 100 children, 55% were female and 45% were male with a male-to-female ratio of 1:1.2. Our study included 63% juvenile idiopathic arthritis, 17% systemic lupus erythematosus, 7% juvenile dermatomyositis, 6% Kawasaki disease, 3% systemic sclerosis, and 2% Henoch–Schonlein purpura and mixed CTD patients each. Mucocutaneous features commonly seen were rash (40%), oral ulcers (22%), and photosensitivity (18%). Commonly seen systemic features were joint pain (77%), followed by fever (63%). Conclusion: Mucocutaneous manifestations are frequently seen in CTDs and constitute a frequent and an early manifestation of CTD. Early recognition of CTD in the pediatric age group will help in timely initiation of treatment to prevent disabilities and mortality.

Performance of the QuantiFERON- TB gold test in children receiving immunosuppressive therapy for rheumatic diseases

ObjectivesThe mainstay of treatment for pediatric rheumatological disease is disease-modifying anti-rheumatic agents which are immunosuppressive in nature and increase the susceptibility to tuberculosis. The aims and objectives were to evaluate the performance of the QuantiFERON®-TB Gold test (QFT) and Tuberculin skin test (TST) to diagnose latent tuberculosis in children receiving immunosuppressive therapy for rheumatic diseases in a tertiary hospital in South India. MethodsThis was a prospective observational study. 60 consecutive children diagnosed with various rheumatic diseases attending the Paediatric Rheumatology clinic on immunosuppressive therapy were included. The QFT and TST were performed on the same day. Data regarding the demography, diagnosis, treatment received and test results were collected and analysed. ResultsAmong patients included (n = 60), two children had positive QFT and one child had positive TST. The agreement between tests was k = 0.85 and the proportion of latent tuberculosis was 5 %. All the children included were on conventional DMARDs and 3.3 % were on biological DMARDs. There was a significant decrease in the mitogen induced interferon level in children on treatment with hydroxychloroquine (p = 0.022) and a significant increase in the level in children on azathioprine (p = 0.006). Children on steroids had a lower range of mitogen-induced interferon levels. ConclusionQFT may be a more reliable test than TST for the detection of latent tuberculosis in children with rheumatic diseases receiving immunosuppressive treatment. The use of hydroxychloroquine and steroids might influence the mitogen-induced IFN-γ secretion and may interfere with the interpretation of the QFT test.

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.

Genetic Disorders in Pediatric Rheumatology Clinic: When to Suspect, and Why?

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 aseemingly 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 outpatientclinic, 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.

Referral Patterns to Pediatric Rheumatology From Primary Care Physicians and General Pediatrics at a Single Pediatric Rheumatology Center in Saudi Arabia.

Objective This study aims to investigate referral patterns to pediatric rheumatology and assess the correctness of referrals from primary care physicians and pediatric specialties. Methodology A cross-sectional, retrospective study was conducted on all patients who were referred to the PediatricRheumatology Department since 2015 (N= 282) at King Abdullah Specialized Children's Hospital (KASCH), PediatricRheumatology Clinic. Age, gender, reason for referral, clinical features, referring department, and final diagnosis were taken as variables. Data were collected through the documents and records of the cases (referrals) in the electronic medical records system of the hospital (BestCare).Then Excel was used for data entry, and JMP statistical software, version 14.0.0 (SAS Institute Inc., Cary, NC, USA) was used for data analysis. Results In a totalof 282 patients across the PediatricRheumatology Clinic, KASCH, the most common reason for referral to the clinic was joint pain (112, 43%)and the least common reason was rash (6, 2.3%). The most common diagnosis was juvenile idiopathic arthritis (JIA) (24, 26.6%).The majority of patients referred to the rheumatology department did not have a rheumatological disease (169, 65%). The majority of the referrals were from pediatrics subspecialties (168, 65%). The least referred department was primary care (21, 8%). Conclusions To our knowledge, this is the first study showing the referral pattern, accuracy, and profile of a pediatric rheumatology clinic population in Saudi Arabia. Expectedly, the most common reason for referral was arthralgia. The most common diagnosis was JIA. According to the results, most of the referrals were inaccurate as they did not end up with a rheumatological diagnosis. Pediatricsubspecialties should be more aware of the nature of rheumatological disease to avoid over-referrals. Finding a pattern of referrals to pediatricrheumatology is an excellent modality to accomplish early diagnosis and the best possible prognosis.

E25 The pattern of juvenile psoriatic arthritis in a tertiary centre in Libya

Abstract Background Juvenile psoriatic arthritis (JPsA) is a relatively rare condition in childhood as it represents ∼5% of the whole Juvenile Idiopathic Arthritis (JIA). There are fewer reports describing the characteristics and outcome of patients with JPsA. Aim To describe the characteristic features and the treatment modalities of JPsA among Libyan children in pediatric rheumatology clinic at the Tripoli Children Hospital which is the only referral clinic covering the western, northern and southern part of Libya and to compare our results with other populations worldwide. Methods All the medical records of the children who were diagnosed to have JPsA according to ILAR classification criteria or Vancouver criteria (definite or probable) from January 2001 to January 2020 were included and retrospectively reviewed. Data were collected about demographic, clinical, and laboratory features and treatment Results The study included a total of 30 cases of JPsA that represents a 12% of total JIA cases over the study period, the mean age at presentation was 5.8 ± 5.3 years with male to female ratio of 1:1, with the mean duration of symptoms prior to diagnosis of JIA of 9 ± 10 months. The foremost common type of arthritis was peripheral polyarthritis (83% &amp; 58.3%), with the Small joints commonly affected, 30% of patients had hip joint involvement. 13% of the patient had psoriasis, half of them before presentation of arthritis. Nail changes secondary to psoriasis was seen in 1 of the cohort, and the percentage of patients with dactylitis among the group was 30%. Family history of psoriasis found in 83% of the cohort, 26% found to be ANA positive. Chronic uveitis occurred in 10%. Patients of the total cohort, ANA positive, Unilateral anterior uveitis being the most common presentation. The following table summarizes the Medications used during the course of the disease At the time of the first visit 100%of total patients fulfilled the Vancouver criteria for juvenile PsA, While 5 of the12 patients didn’t fulfilled the ILAR criteria for JPsA. Conclusions Juvenile psoriatic arthritis constituted 12% of our patients with juvenile idiopathic arthritis. Juvenile psoriatic arthritis constitutes 8% to20% of JIA patients worldwide with equal gender distribution and peak age at presentation of 6–13 years. More than four peripheral joints involvement were the most frequent presentation. Half of the patients had skin involvement before the development of arthritis. Prevalence of chronic anterior uveitis was higher in our cohort than worldwide (10% vs 5% respectively) as an extra articular manifestation. All patients were treated with NSAIDs at presentation and/or during follow-up. Methotrexate was the most commonly used second-line agent Ethics Our study was approved by local ethical committee of pediatric department at Tripoli children hospital.

E50 Central Nervous System manifestation of Systemic Lupus Erythematosus: A case presentation

Abstract Background Systemic Lupus Erythematosus (SLE) is a complex, chronic, multisystem autoimmune disease with clinical manifestations in all organ systems. It is characterized by production of autoantibodies to components of the cell nucleus. Pediatric patients tend to have more severe disease and widespread organ involvement. If untreated, the 5-year mortality rate is almost 95%. Literature on SLE, more so pediatric SLE in Sub-Saharan Africa is scarce. Aim To describe the diagnostic journey of a child with CNS lupus in our setting. Method Retrospective chart review of a child with CNS Lupus at a tertiary referral teaching hospital in Nairobi, Kenya. Results We present a case of a 14-year-old boy who was diagnosed with CNS Lupus. He was known to have a convulsive disorder, with a recent history of mutism and was on Lamictal and rivotril for approximately one year. He presented to our facility in status epilepticus, having complained of a sudden onset of headache prior to the onset of the convulsions. He had had an uneventful birth and developmental history with no family history of chronic ailments. On examination, he was found to have bilateral ptosis with no other neurological deficits and otherwise normal systemic examination. Complete blood count initially showed a slight neutrophilia and thrombocytosis. Kidney function was normal and the CSF workup was negative for infection. Chest X ray showed features of aspiration pneumonia for which he received Augmentin, nebulization with hypertonic saline and chest physiotherapy. EEG showed generalized electrical seizures. CT/MRI brain showed acute infarcts in the superior frontal gyrus, post central gyrus and in the right insular cortex. He was managed in the Intensive Care Unit until cessation of the seizures. Post extubation, he was noted to have reduced lower limb power and bulbar dysfunction. A rheumatology consult was requested and revealed speech regression, a prior episode of conjunctivitis, a vasculitic palmar rash, palatial petechiae and suspected right knee arthritis. Urinalysis was suggestive of glomerulonephritis. ANA Antibodies were positive (titers of 1:160), positive anti-Ro antibodies. Anti-Ds DNA, P and C ANCA were negative. Renal histopathology was unremarkable. He was pulsed with IV methylprednisolone for 3 days with improvement and thereafter on follow up as an outpatient in the Pediatric Rheumatology clinic. Conclusion Pediatric SLE has significant morbidity and mortality therefore early intervention is crucial to retard disease progression. Given the vast array of clinical manifestations, it requires a high index of suspicion to enable early, accurate diagnosis and prompt treatment.

E56 A 16-year diagnosis delay of a patient with Pigmented Villonodular Synovitis

Abstract Introduction Pigmented villonodular synovitis (PVNS), a subtype of tenosynovial giant cell tumours, is a rare non-cancerous proliferative synovial disorder usually affecting the knee in adults(1). The incidence rate is 1.8 patients per million people of the general population, with few reports amongst the paediatric population, hence it is frequently misdiagnosed(2). It has a slow onset of symptoms and has been noted to take ∼18 months to make a definitive diagnosis(3). Objective To describe a case of pigmented villonodular synovitis in a seventeen-year-old African female. Methods A retrospective chart review was done to ascertain the clinical presentation and management of the patient. Case description We present a case of a 17-year-old African female who presented with bilateral knee pain and swelling from 10 months of age. She had been on follow-up at a peripheral facility for 14 years, where she was being managed with methotrexate 12.5 mg weekly and folic acid 5 mg OD for Juvenile Idiopathic Arthritis with no marked improvement in her symptoms. In view of her poor response to therapy, the mother stopped her treatment 3 months prior to presentation in our facility. She initially had intermittent bilateral swelling of the small joints of the hand that were tender which eventually evolved to involve both knee joints. The pain was worse in the morning and was associated with the inability to ambulate and occasional night awakening. The systemic inquiry was otherwise unremarkable. She had an unremarkable birth history, and normal developmental milestones. She was however shorter than her peers and had not attained menarche. The patient had been admitted 8–10 times per year during the span of her illness for similar complaints and had undergone multiple knee joint fluid aspirations to relieve the swelling and several laboratory tests and radiological studies were done. On assessment, she was noted to be of fair general condition with gross asymmetric swelling of both knees and a surgical scar over the right knee with no limitation in the range of movement. There was minimal effusion of bilateral elbows and ankles, and the MCP, ICP and wrist joints weren’t affected. The patient had thoracic scoliosis, a grade 3/6 systolic murmur on the left lower sternal border, no radiation, and hepatomegaly 4 cm below the costal margin. She was prepubertal on sexual maturation rating. There was no central nervous system, abdominal, or respiratory abnormalities. A series of lab investigations to exclude the possibility of juvenile idiopathic arthritis were conducted. This panel included a complete blood count, which showed hypochromic, microcytic anaemia, c-reactive protein was raised at 61 mg/l but normal biochemistry and unremarkable autoantibody profile. Imaging done included a bilateral knee X-Ray followed by a bilateral knee MRI which showed large volume bilateral knee joint effusions associated with synovial-based masses causing extrinsic periarticular bony erosions and intra-articular synovial proliferation forming a villonodular appearance. The patient was referred to orthopaedic surgery and bilateral arthrotomy, drainage and synovectomy of both knees were done. She continues to be followed up in our paediatric rheumatology and orthopaedic clinic with good mobility and no other co-morbidities. She is currently undergoing work up for a delayed puberty. Conclusion Pigmented villonodular synovitis is a rare disease in the paediatric population. In the absence of awareness of its existence and expertise on how to diagnose it, patients may be misdiagnosed and mismanaged over a long duration of time as seen in the presented case.

E34 Coexisting sickle cell disease and autoimmune diseases among Nigerian children

Abstract Introduction Patients with sickle cell disease (SCD) do have a defective activation of the alternate complement pathway which increases their risk of having infections. This is thought to predispose to autoimmune disease (AID) in them. However, there is paucity of data on coexisting AID and SCD in children which may be due to under diagnosis as a result of overlapping symptoms of the two disease conditions. Objectives To highlight the clinical features, diagnostic challenge and importance of early recognition and treatment of autoimmune diseases in children with sickle cell disease. Methods Retrospective review of records of four children with sickle cell disease who were diagnosed with autoimmune diseases at the paediatric Rheumatology Clinic of Lagos State University Teaching Hospital (LASUTH) between May 2018 to February 2023. Results Case 1 15 –year –old girl known haemoglobin SC patient of haematology unit who was referred to rheumatology unit with history of worsening jaundice, abdominal swelling, headache, constitutional symptoms, left knee pain, and two episodes of blood transfusion within two months. Initally being managed for hyperhaemolytic and vaso-occlusive crisis but later referred to rheumatology unit on suspicion of autoimmune disease due to recurrent anaemia, and five episodes of blood transfusion within two months. ESR was 65 mm/h, ANA of 1:2560, positive anti-smith antibodies, elevated urine protein creatinine ratio (UPCR), low C3 and C4 and positive direct coomb’s test. Diagnosis was juvenile systemic lupus erythematosus (JSLE). She had pulse methylprednisolone, oral prednisolone, hydroxychloroquine and mycophenolate mofetil. She has improved clinically and being followed up in clinic. Case 2 10-year-old girl, known sickle cell anaemia patient who had unproductive cough of one-month duration and chest radiograph findings of bronchiectatic and fibrotic changes in the right upper/middle lobes with reduction in lung volume. Gene xpert was negative for tuberculosis but chest CT showed honeycombing in the right upper lobe implying Interstitial lung disease. Further investigations showed ESR of 5, ANA of 1:1280, borderline anti-dsDNA, positive anti-SM/RNP, normal urinalysis, normal renal function and restrictive lung disease on spirometry. She is being managed as a case connective tissue disorder with associated Interstitial Lung Disease. She is presently on mycophenolate mofetil and being followed up in clinic. Case 3 11-year-old female living with sickle cell anaemia who presented with inflammatory arthritis of the small joints of the hands, elbows and knees of nine-month duration, sclerodactyly, contractures of the PIP of the fingers, narrowing of oral aperture, generalized hypopigmented macules and abnormal nailfold capillaroscopy. ANA was 1:640, positive anti-Scl 70, negative anti-centromere, ESR of 130 mm/h, thrombocytosis, severe restriction on spirometry and features of interstitial lung disease on HRCT of the chest. She commenced mycophenolate mofetil, prednisolone and nifedipine. She later had 2 doses of rituximab due to slow clinical improvement and is being followed up. Case 4 13-year-old female with sickle cell anaemia who presented with recurrent fever &amp; severe haemolytic anaemia requiring frequent blood transfusions (13 pints of blood over 6 months!!!). Initial diagnosis was septicaemia, and autoimmune haemolytic anaemia. Following rheumatology review, ANA was 1:640, positive anti-DsDNA, negative anti-Smith antibodies, ESR of &amp;gt; 150mm/h, elevated UPCR and pancytopaenia. She was later diagnosed with Lupus nephritis. She had Mycophenolate mofetil, prednisolone and hydroxychloroquine. She died of acute lupus flare 4 weeks after discharge from the hospital. Conclusions Physicians should have high index of suspicion for possible association of sickle-cell disease and autoimmune diseases so as not to delay definitive diagnosis and initiation of appropriate treatment.