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Research

Development of a referral pathway framework for foetal alcohol spectrum disorder in the Pilbara

The process of referral pathway development provided a service mapping and gapping exercise to facilitate service integration

Research

Global consensus on nutritional rickets: Implications for Australia

We conclude that updated global recommendations for therapy of nutritional rickets complement previously published position statements for Australia and New Zealand

Research

Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in China

With the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.

Research

Early analysis of the Australian Covid-19 epidemic

As of 1 May 2020, there had been 6808 confirmed cases of COVID-19 in Australia. Of these, 98 had died from the disease. The epidemic had been in decline since mid-March, with 308 cases confirmed nationally since 14 April.

Research snapshots

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

MECP2 duplication syndrome (MDBase)

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

Altered attainment of developmental milestones

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.