Objective: The objective is to explore the journey to diagnosis and referral pathway from the onset of symptoms to the initial assessments at paediatric rheumatology (PR) centres, based on the experience of children with juvenile idiopathic arthritis (JIA) and their parents.
Design: We conducted a qualitative study with semistructured interviews. Our qualitative and phenomenological procedure applied interpretative phenomenological analysis.
Background: Despite guidelines, poor access to appropriate care for juvenile idiopathic arthritis (JIA) patients remains a global issue. Prompt referral to a pediatric rheumatology (PR) center and effective care is known to be critical for changing the natural history of the disease and improving long-term prognosis. This project assesses socio-economic factors of delayed referral to a pediatric rheumatologist (PRst) for JIA patients in France and Switzerland within the Juvenile Inflammatory Rheumatism (JIR) Cohort.
View Article and Find Full Text PDFObjective: This review examines time to access appropriate care for JIA patients and analyses the referral pathway before the first paediatric rheumatology (PR) visit. We also describe factors associated with a longer referral.
Methods: We performed a systematic literature review, screening electronic databases (PubMed, Web of Science, EMBASE, Cochrane library and Open Grey database) up to February 2020.
Background: JIA studies demonstrate that there is a "window of opportunity" early in the disease course during which appropriate management improves outcomes. No data is available regarding patients' pathway, before first pediatric rheumatology (PR) evaluation in India, a country where health-care costs are self- paid by patients and where a significant shortage of pediatric rheumatologists (PRsts) is known. This study aimed to describe time from onset of symptoms to first PR visit of JIA patients to a tertiary center in India and factors that impact this.
View Article and Find Full Text PDFMutations in the RMND1 gene, causing defects in the mitochondrial respiratory chain, result in a very heterozygous phenotype. Currently there are 36 cases reported in the literature. We report two siblings from a non-consanguineous family who were severely affected by a compound heterozygous RMND1 mutation that had not been described previously and were treated differently for their end-stage renal disease.
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