Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.

Aim: Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS.

Methods: Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology.

Lysosomal storage disorders: A review of the musculoskeletal features.

The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases.

Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations.

Australian Paediatric Rheumatology Group standards of care for the management of juvenile idiopathic arthritis.

This standards document outlines accepted standards of management for children, adolescents and young adults with juvenile idiopathic arthritis (JIA) in Australia. This document acknowledges that the chronic inflammatory arthritis conditions (JIA) in childhood are different diseases from inflammatory arthritis in adults and that specific expertise is required in the care of children with arthritis.

Nocardia brasiliensis infection mimicking juvenile idiopathic arthritis in a 4-year-old girl.

Nocardia are ubiquitous environmental saprophytes that cause pneumonia and disseminated disease in immunocompromised patients. They can also cause localized cutaneous and soft tissue infections in healthy people after direct percutaneous inoculation. Nocardia arthritis is rare in both forms of the disease.

Agreement between proxy and adolescent assessment of disability, pain, and well-being in juvenile idiopathic arthritis.

Objectives: Adolescents with juvenile idiopathic arthritis have demonstrated substantial disagreement with their proxy's assessment of their disability, pain, and well-being. Our objective was to describe the clinical and psychological factors associated with discordance.

Study Design: This analysis included 204 proxy-adolescent (median age, 13 years) dyads that completed a Childhood Health Assessment Questionnaire for disability with 100-mm visual analogue scales for pain and well-being.

Disease activity and disability in children with juvenile idiopathic arthritis one year following presentation to paediatric rheumatology. Results from the Childhood Arthritis Prospective Study.

Objective: Inflammatory arthritis in childhood is variable in terms of both presentation and outcome. This analysis describes disease activity in children with juvenile idiopathic arthritis (JIA) during the first year following presentation to a paediatric rheumatologist and identifies predictors of moderate to severe disability [defined using a Childhood HAQ (CHAQ) score >or=0.75] at 1 year.