Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

Research

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Research

Transiently increased IgE responses in infants and pre-schoolers receiving only (DTaP) vaccines compared to those initially receiving at least one dose of DTwP vaccine

Confirm the generalised IgE-trophic activity of the DTaP vaccine in pre-schoolers and demonstrate similar (albeit transient) effects in infants

Research

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.

Research

Enabling successful life engagement in young people with ADHD: new components beyond adult models of recovery

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.

Research

A prospective investigation of dietary patterns and internalizing and externalizing mental health problems in adolescents

Our findings only lend partial support to a link between diet and mental health, specific to females consuming a Western diet and to externalizing behaviours

Research

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity. 

Research

Chronic Pain in Young People with Cerebral Palsy: Activity Limitations and Coping Strategies

To describe the effect of chronic pain on the activities of children and adolescents with cerebral palsy, to describe coping strategies, and to examine associations between effect of pain on activities, coping strategies, and level of pain.

Research

Early life events and motor development in childhood and adolescence: A longitudinal study

Antenatal, perinatal and neonatal factors affecting motor development from late childhood to adolescence were explored.

Research

Early mortality among aboriginal and non-Aboriginal women who had a preterm birth in Western Australia: A population-based cohort study

Having a preterm (<37 weeks' gestation) birth may increase a woman's risk of early mortality. Aboriginal and Torres Strait Islander women have higher preterm birth and mortality rates compared with other Australian women.

Research

Increasing incidence of type 2 diabetes in Indigenous and non-Indigenous children in Western Australia, 1990-2012

In this study, we aimed to determine the incidence and incidence rate trends of childhood T2D in Indigenous and non-Indigenous children in WA.

Research

Cerebral palsy: Epidemiology

Cerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.

Research

New South Wales child development study (NSW-CDS): An Australian multiagency, multigenerational, longitudinal record linkage study

Identify risk and protective factors for later childhood-onset and adolescent-onset mental health problems, and other adverse social outcomes

Research

Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents

Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD. 

Research

VEGF-D promotes pulmonary oedema in hyperoxic acute lung injury

Our studies show that Vegf-d promotes oedema in response to hyperoxia in mice and support the hypothesis that VEGF-D signalling promotes vascular leak in human HALI.

Research

Using online environments to build school staff capacity to address student wellbeing

Teachers and school executive teams are often required to address health and wellbeing issues affecting students' learning

Research

Asbestos-Related Non-Malignant Pleural Disease and Mesothelioma

This chapter deals with asbestos-related non-malignant pleural disease and mesothelioma.