Search

Research

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

Tonsillectomy and adenoidectomy are two of the most commonly performed ENT procedures in children, with over 500,000 cases performed annually in the United States. Whilst generally considered a safe and well-tolerated operation, it is not without its risks and complications including pain, nausea, anorexia and most importantly bleeding and post-tonsillectomy haemorrhage.

Research

Compromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies could have an additional LOS risk. 

Research

Approximately 770 children are diagnosed with cancer in Australia every year. Research has explored their experiences and developed recommendations for improving support provided to families. These have included the provision of psychology services, improved communication between healthcare professionals and parents, and increased information for families. 

Research

Diabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.  

Research

Though significant research highlights higher rates of mental ill-health and substance use among trans, non-binary and gender diverse (henceforth 'trans') young people, little research has considered patterns, contextual characteristics, and correlates of co-occurring experiences of mental ill-health and substance use among trans young people. 

Research

Indigenous Australians are known to have a higher prevalence of coronary artery disease (CAD) than non-Indigenous counterparts. Atherogenic lipid profiles, characterised by low serum levels of high-density lipoprotein (HDL) and higher serum triglycerides, have been shown to be more prevalent in Indigenous Australians. The use of computed tomography coronary angiography (CTCA) for risk stratification and diagnosis of CAD has been validated in moderate risk populations, but limited data exists in specific high-risk populations such as Indigenous Australians.

Research

Mental health problems are common among university students, yet many students do not seek professional help. Digital mental health interventions can increase students' access to support and have been shown to be effective in preventing and treating mental health problems. However, little is known about the extent to which students implement therapeutic skills from these programs in everyday life (ie, skill enactment) or about the impact of skill enactment on outcomes. 

Research

This study aimed to understand how parents describe the most challenging behaviors exhibited by their children diagnosed with autism and/or ADHD, how those behaviours impact their family, and whether challenges are directly related to the core characteristics of these conditions.