Monash Children’s Hospital

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...

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...

An autoinflammatory CDC42 variant M45L demonstrates the mechanism of pyrin inflammasome activation

CDC42 is an evolutionarily conserved guanosine triphosphatase (GTPase) regulating critical cellular and immune processes. Variants in CDC42 therefore cause a spectrum of developmental phenotypes, including hematological and immunological symptoms. Here, we identify a previously u...