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Research

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.

Research

Planetary Health: We Need to Talk about Narcissism

Concepts of planetary health attempt to collectively address the biological, psychological, social, and cultural factors contributing to “Anthropocene Syndrome”, which encompasses the many wicked interrelated challenges of our time. It is increasingly evident that the wide array of causative factors is underpinned by attitudes, values, and worldviews.

Research

Determining risk features for medulloblastoma in the molecular era

Nick Gottardo MBChB FRACP PhD Head of Paediatric and Adolescent Oncology and Haematology, Perth Children’s Hospital; Co-head, Brain Tumour Research

Research

A cross-sectional audit of the Australian community food environment highlights the prominent role of chain food outlets

Food retail and food service outlets can be part of a chain, or independently operated. Chain food outlets are likely to have the most influence over community food environments but have not been routinely identified in studies which map and monitor access to food, highlighting an important knowledge gap. This study aimed to identify the food retail and food service outlets present within metropolitan Perth, including presence of chain and independent food outlets; and examine differences across local governments. 

Research

Shoulder dystocia in babies born to Aboriginal mothers with diabetes: a population-based cohort study, 1998–2015

Australian Aboriginal and Torres Strait Islander women with diabetes in pregnancy (DIP) are more likely to have glycaemic levels above the target range, and their babies are thus at higher risk of excessive fetal growth. Shoulder dystocia, defined by failure of spontaneous birth of fetal shoulder after birth of the head requiring obstetric maneuvers, is an obstetric emergency that is strongly associated with DIP and fetal size.

Research

Suppression of TGF-β/SMAD signaling by an inner nuclear membrane phosphatase complex

Cytokines of the TGF-β superfamily control essential cell fate decisions via receptor regulated SMAD (R-SMAD) transcription factors. Ligand-induced R-SMAD phosphorylation in the cytosol triggers their activation and nuclear accumulation. We determine how R-SMADs are inactivated by dephosphorylation in the cell nucleus to counteract signaling by TGF-β superfamily ligands. 

Research

The overlapping global distribution of dengue, chikungunya, Zika and yellow fever

Arboviruses transmitted mainly by Aedes (Stegomyia) aegypti and Ae. albopictus, including dengue, chikungunya, and Zika viruses, and yellow fever virus in urban settings, pose an escalating global threat. Existing risk maps, often hampered by surveillance biases, may underestimate or misrepresent the true distribution of these diseases and do not incorporate epidemiological similarities despite shared vector species.

Research

Intervention effect of targeted workplace closures may be approximated by single-layered networks in an individual-based model of COVID-19 control

Individual-based models of infectious disease dynamics commonly use network structures to represent human interactions. Network structures can vary in complexity, from single-layered with homogeneous mixing to multi-layered with clustering and layer-specific contact weights. Here we assessed policy-relevant consequences of network choice by simulating different network structures within an established individual-based model of SARS-CoV-2 dynamics.

Research

‘Feeling like you can't do anything because you don't know where to start’—Parents' Perspectives of Barriers and Facilitators to Accessing Early Detection for Children at Risk of CP

Early detection of cerebral palsy (CP) risk is possible from 12 weeks corrected gestational age (CGA) using standardised assessments; however, up to half of children at risk are not referred early, missing out on early intervention. We investigated the barriers and facilitators to accessing early intervention from the perspective of parents of children who did not receive services by 6 months CGA.

Research

Profile of the PLAY spaces & environments for children’s physical activity, sedentary behaviour and sleep (PLAYCE) cohort study, Western Australia

Childhood is a critical period for the development of movement behaviours such as physical activity, sleep and sedentary behaviour. The PLAYCE Cohort was established to investigate how movement behaviours change over early to middle childhood, across key behaviour settings and relationships with health and development. An overview of the PLAYCE cohort, summary of key findings to date, and future research opportunities are presented.