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X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
Asthma affects > 10% of children in Australia and New Zealand (NZ), with up to 5% of those having severe disease, presenting a management challenge. We aimed to survey tertiary paediatric respiratory services across Australia and NZ using a custom-designed questionnaire, to conduct a cross-sectional observational study of the numbers of children with problematic severe asthma seen, the number treated with biologic therapy, outpatient clinic/multidisciplinary team services available, investigations and tools routinely used and approaches utilised for transition to adult care.
Clostridioides (Clostridium) difficile transmission between community and healthcare settings has been increasingly reported. We aimed to identify the prevalence and molecular epidemiology of C. difficile colonising adolescents and non-hospitalised children in Cambodia.
Chronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media, is a chronic inflammation and often polymicrobial infection (involving more than one micro-organism) of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane.
Carcinogenic effects of ultraviolet radiation (UVR) with reference to skin cancer are the basis of widely implemented recommendations to avoid sun exposure. Whether the benefits of "restrictive sun policies" outweigh their potential harms due to diminished beneficial effects of sunlight exposure remain a matter of controversy.
Children with early-stage (pre-symptomatic) type 1 diabetes are currently identified primarily via research-based screening programmes in Australia. Once identified, families live with the knowledge that their child has an increased chance of developing symptomatic, lifelong, insulin-requiring type 1 diabetes but have no specific clinical pathway available to them in Western Australia for accessing tailored support or education. This project aimed to co-design a new clinical pathway to address this unmet need.
International guidelines recommend multidisciplinary intervention programs for addressing childhood obesity. In Western Australia, community-based healthy lifestyle programs for children and young people are insufficient for demand, especially for those over-represented in obesity statistics relating to prevalence. This protocol outlines the implementation and evaluation of an adapted, evidenced, community-based program in Perth, Western Australia.
Nirsevimab is a long-acting monoclonal antibody used to prevent respiratory syncytial virus (RSV) infection in infants and high-risk children. During the 2024 RSV season in Western Australia, 21 922 doses were administered to infants entering their first season and 1221 doses to at-risk children. In this context, the selection and spread of escape variants are a potential concern. This study aimed to investigate nirsevimab binding site mutations using clinical and wastewater data.
Diarrhoea remains a leading cause of mortality among children under five years of age, with over 99 % of deaths occurring in low- and middle-income countries. Poor water quality, inadequate sanitation, poverty, undernutrition, and limited healthcare access contribute to this lingering problem, together with emerging environmental stressors driven by climate change.