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Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Patterns trends and increasing disparities in mortality for Aboriginal and non-Aboriginal infants born in Western Australia 1980-2001: population database study

Since there are known disparities between Aboriginal and non-Aboriginal populations in Australia, trends in infant mortality rates can be used to assess the...

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

The First Research Report: patterns and trends in mortality of Western Australian infants, children and young people 1980-2002

The Advisory Council on the Prevention of Deaths of Children and Young People today officially released this report.

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network Analysis

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.

Differential DNA methylation of steatosis and non-alcoholic fatty liver disease in adolescence

Epigenetic modifications are associated with hepatic fat accumulation and non-alcoholic fatty liver disease (NAFLD). However, few epigenetic modifications directly implicated in such processes have been identified during adolescence, a critical developmental window where physiological changes could influence future disease trajectory. To investigate the association between DNA methylation and NAFLD in adolescence, we undertook discovery and validation of novel methylation marks, alongside replication of previously reported marks.

A Single-Centre Retrospective Review of Modified Blalock-Taussig Shunts: A 22-Year Experience

This single-centre retrospective study explores demographics and outcomes of patients who underwent a modified Blalock-Taussig shunt (MBTS) over a 22-year period. The predominant surgical approach in this study is a lateral thoracotomy, in contrast to a midline sternotomy. Risks and outcomes of this approach are compared with national and international literature.

Looking beyond: complex holistic care needs of Syrian and Iraqi refugee children and adolescents

Protracted international conflict has seen escalating numbers of displaced and resettled Syrian and Iraqi refugees, raising concerns for their health and well-being. This paper describes the demographic and clinical profiles of recently resettled Syrian and Iraqi refugee children and adolescents across physical, psychosocial, developmental and educational domains using standardised multidisciplinary assessments.

Does fast-food outlet density differ by area-level disadvantage in metropolitan Perth, Western Australia?

Socio-economic spatial patterning of fast-food outlets can result in disparities in the availability and access of food across geographic areas, contributing to health inequalities. This study investigated whether area-level socio-economic disparities exist in fast-food availability across the Perth metropolitan region of Western Australia.