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Type 1 Diabetes

A lifelong auto-immune condition that can affect anyone, but is most commonly diagnosed in childhood.

Move to Improve: Co-Designing a Hospital-Based Physical Activity Program for Children With Chronic Health Conditions

Physical activity can support physical and mental health among children living with chronic health conditions; however, programmes must be tailored to their specific needs to support participation.

Co-designing a new clinical pathway to support families with children identified as having early-stage type 1 diabetes in Western Australia

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.

Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort

Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

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.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

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.

Experiences of Caregivers and At-Risk Children Enrolled in a Prospective Pregnancy-Birth Cohort Study into the Causes of Type 1 Diabetes: The ENDIA Study

We sought research experiences of caregivers and their children were enrolled in the Environmental Determinants of Islet Autoimmunity (ENDIA) study.

‘It’s been a lifelong thing for me’: parents’ experiences of facilitating a healthy lifestyle for their children with severe obesity

For parents and guardians, assisting children/adolescents with severe obesity to lose weight is often a key objective but a complex and difficult challenge. Our aim in this study was to explore parents' (and guardians') perspectives on the challenges they have faced in assisting their children/adolescents with severe obesity to lead a healthy lifestyle.

Physical activity management for youth with type 1 diabetes: Supporting active and inactive children

Regular physical activity and exercise are important for youth and essential components of a healthy lifestyle. For youth with type 1 diabetes, regular physical activity can promote cardiovascular fitness, bone health, insulin sensitivity, and glucose management. However, the number of youth with type 1 diabetes who regularly meet minimum physical activity guidelines is low, and many encounter barriers to regular physical activity.

Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units survey

X-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population.