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Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
Adolescents living with type 1 diabetes (T1D) are faced with unique challenges to nutrition management. The current Perth Children's Hospital (PCH) T1D management model includes individualised education at diagnosis and annual reviews. Currently, no group education is provided to develop self-management skills for healthy meal preparation. Teaching Kitchens offers a skills-based program in food literacy and nutrition. This feasibility study explored if a Teaching Kitchens program at PCH engaged adolescents aged between 13 and 17 years, living with T1D.
This article presents a case study of a 12-month co-design process with young people (16–25) living with chronic health conditions to create an online, self-guided intervention based on positive psychology. Following an established framework for co-designing with vulnerable consumers, the co-design process was designed with stakeholders to promote accessibility and maximise youth engagement in the design of the programme.
We aimed to assess perceived stress and influencing factors in mothers with children at risk of type 1 diabetes and coeliac disease who did, or did not, develop islet autoantibodies or coeliac autoantibodies by 4 years of age.
The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.
This cohort study examines whether there is a temporal association between SARS-CoV-2 infection and the development of islet autoimmunity among Australian children with a first-degree relative with type 1 diabetes.
General practice-based care for Australian children is facing low levels of clinical guideline adherence particularly in three key areas: asthma, type 1 diabetes and antibiotic use. We offer an implementation science-informed position paper, providing a broad overview of how we aim to address this issue.
Despite the various traumatic events that a young person living with type 1 diabetes (T1D) may experience, little is known about the burden and manifestation of traumatic stress in this population. Though mental health outcomes have been explored generally, medical trauma-sensitive approaches to understanding these experiences remain limited. We utilised a qualitative descriptive approach to explore the impact of T1D on young people’s mental health through the paediatric medical traumatic stress model.
Rapid improvements in glucose control may lead to early worsening of diabetic retinopathy (EWDR). There is a need to demonstrate safety in people commencing automated insulin delivery (AID) due to the known efficacy in rapid glycemic improvement. We aimed to investigate short-term DR outcomes in people (aged ≥13 years) with type 1 diabetes after initiation of AID (use ≥6 months).
X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease