Murdoch Children's Research Institute

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study

Objectives To evaluate the methodological quality of hospital-specific paediatric sepsis clinical practice guidelines (CPGs) from sites participating in an international study using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool and to assess the consi...

Diabetes and Driving: How Predictive Technologies Will Alter Ethical and Legal Responsibilities

In 2023, a 67-year-old man with long-standing type 1 diabetes experienced a severe hypoglycemic episode and drove into an outdoor dining area in Victoria, Australia, killing 5 people and injuring several others. Although the charges against the driver were dismissed, future cases...

Human cortical networks trade communication efficiency for computational reliability

Brains are often described as cost-efficient communication networks, optimally balancing the cost of long connections with the benefits of fast communication. Here, inspired by the "use it or lose it" principle, we present a novel game-theoretic model of self-organizing neural un...

Parent and child preferences for a community-based physical activity participation intervention for children born very preterm: a qualitative framework analysis

PURPOSE: Children born very preterm (VP: <32 weeks' gestation) are less physically active than their term-born peers and face greater barriers to participation in community-based activities. This study consults with key knowledge holders (children born VP and their parents) to un...

Public perceptions of polygenic testing and embryo selection for non-medical traits

Abstract Some advances in reproductive technologies raise substantial ethical and psychological challenges, for example, the use of preimplantation genetic testing to select embryos based on non-medical traits. While studies have explored public willingness to use preimplantation...

The ageing immune system and its battle with viruses

Graphical Abstract Virus-specific immunity and correlates of protection change across human life: children encounter first infections/vaccinations when they are immunologically naïve, whereas cumulative exposure histories in older adults shape their immunity.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS....

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

The DLX/Notch axis is necessary for spatiotemporal regulation of neural cell fate

Neuronal-glial cell fate switch during forebrain development is highly regulated. DLX transcription factors are necessary for promoting GABAergic interneuron differentiation and migration but the mechanisms for concomitant repression of glial fate in neural progenitors remain elu...

Scaling up Genomics

Introduction: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centres,...

Anxiety and mood disorders from childhood to adulthood in very preterm and term-born individuals

BACKGROUND: Very preterm (VP) birth has been associated with higher rates of anxiety and mood disorders, but the emergence and persistence from childhood to adulthood is unknown. This study examined prevalence rates and early risk factors of these disorders in VP and term-born in...

The Impact of 40 Years of Data Collection: The Victoria Cerebral Palsy Register

Background: The Victorian Cerebral Palsy Register (VCPR) project collects information on all individuals born or living in Victoria since 1970. It is one of the largest cerebral palsy (CP) registers internationally, with over 6800 participants. Methods: This paper will explain ho...

Challenges and approaches to genetic variants of uncertain significance in clinical practice and research

Despite advances in sequencing technologies and variant interpretation frameworks, many variants identified in genetic testing, particularly missense variants, remain classified as variants of uncertain significance (VUS), posing ongoing challenges in diagnosis and clinical manag...

Defining and Measuring Developmental Regression During Childhood: A Scoping Review

ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was...

Long-term type 2 diabetes risk prediction using machine learning with childhood, adolescent, and genetic factors

Abstract Late diagnosis of type 2 diabetes increases patient morbidity and healthcare burden, yet current prediction models use adult risk factors to estimate 5–10-year risk. In this manuscript, we evaluate long-term prediction of type 2 diabetes over 38 years using childhood fac...

Stochasticity in response to rostrocaudal and mediolateral determinants influences inaccurate specification within kidney organoids

The differentiation of human pluripotent stem cells to kidney requires the accurate recapitulation of complex morphogenetic patterning events within an in vitro environment. Current protocols are assumed to accurately pattern through intermediate mesoderm to kidney with outcomes...

Mapping pediatric cardiac troponin testing worldwide: results from the IFCC survey on emerging applications, standardization needs and access

OBJECTIVES: Limited guidance on the use and interpretation of cardiac troponin (cTn) testing in pediatric populations has restricted its broader adoption, despite the significant burden of congenital and acquired cardiac conditions in children. This survey aimed to evaluate globa...

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently defined malformation of cortical development that is an important cause of childhood-onset drug-resistant epilepsy. Clinically, the epilepsies associated with MOGHE are h...