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Heritable and environmental determinants of hospitalisation for common childhood illnesses

We will leverage the unique Western Australian data linkage resources to undertake the definitive twin and sibling study of infection-related hospitalisation

Infection is the major component of the disease burden in Aboriginal and non-Aboriginal Australian children: a population-based study

Infection accounts for the majority of pediatric mortality and morbidity in developing countries, but there are limited data on the infectious diseases...

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Interpretation of recent sudden infant death syndrome rates in Western Australia

Data for recent years show a shift away from a classification of 'SIDS' towards a classification of 'unascertainable', particularly for Aboriginal infants.

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burn

Quality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.

Prevalence of chronic respiratory diseases in Aboriginal children: A whole population study

The burden of bronchiectasis is disproportionately high in Aboriginal adults, with early mortality. Bronchiectasis precursors, that is, protracted bacterial bronchitis and chronic suppurative lung disease, often commence in early childhood.