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Routines to maximise uptime

Learn about the importance of routines in enhancing uptime for children with Rett Syndrome, nurturing their engagement and fostering meaningful activities.

News & Events

CGM announcement

The PMH Diabetes Clinic welcomes the recent Federal Government announcement making fully subsidised Continuous Glucose Monitoring available to young people.

Research

‘Black Out Rage Gallon’ (aka borg): An investigation of a risky drinking trend on TikTok

A 'Black Out Rage Gallon' (borg) is a customised, individual alcoholic beverage popularised on TikTok, whereby half the water in a gallon jug is replaced with alcohol (usually spirits), flavourings, electrolytes and caffeine. We investigated the characteristics and portrayal of the emerging alcohol trend associated with the hashtag descriptor #borg on TikTok.

Research

Maternal diet during breastfeeding: Could it influence food allergy risk in children?

Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.

Research

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Research

Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010

Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.

Research

Urinary tract infections in children: building a causal model-based decision support tool for diagnosis with domain knowledge and prospective data

Diagnosing urinary tract infections (UTIs) in children in the emergency department (ED) is challenging due to the variable clinical presentations and difficulties in obtaining a urine sample free from contamination.

Research

Comprehensive Clinical Paediatric Assessment of Children and Adolescents Sentenced to Detention in Western Australia

To describe the comprehensive clinical paediatric assessment of a representative sample of children and adolescents (young people) sentenced to detention in Western Australia (WA) and participating in the first Fetal Alcohol Spectrum Disorder (FASD) prevalence study.

Research

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.