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Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Research
Validity of using a semi-automated screening tool in a systematic review assessing non-specific effects of respiratory vaccinesThe abstract screening process of systematic reviews can take thousands of hours by two researchers. We aim to determine the reliability and validity of Research Screener, a semi-automated abstract screening tool within a systematic review on non-specific and broader effects of respiratory vaccines on acute lower respiratory infection hospitalisations and antimicrobial prescribing patterns in young children.
Research
Beneficial effects of inorganic nitrate in non-alcoholic fatty liver diseaseNon-alcoholic fatty liver disease (NAFLD) is considered the hepatic representation of the metabolic disorders. Inorganic nitrate/nitrite can be converted to nitric oxide, regulate glucose metabolism, lower lipid levels, and reduce inflammation, thus raising the hypothesis that inorganic nitrate/nitrite could be beneficial for improving NAFLD.
Research
C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system
Research
Exposomes and metabolic health through a physical activity lens: a narrative reviewIn this narrative review, we provide an overview of the role of physical activity as part of differing exposomes (our combined non-genetic exposures from conception onwards) and environmental influences on metabolic health. We discuss 'beneficial' exposomes (green/natural outdoor spaces, sun exposure, healthy diets and features of built environments) that could synergise with physical activity to prevent metabolic dysfunction, particularly that related to lifestyle diseases of obesity, type 2 diabetes and metabolic syndrome.
Research
The PELICAN (Prematurity's Effect on the Lungs In Children and Adults Network) ERS Clinical Research Collaboration: understanding the impact of preterm birth on lung health throughout lifeAn estimated 15 million babies (∼11%) are born preterm each year (before 37 weeks of gestation), the rates of which are increasing worldwide. Enhanced perinatal care, including antenatal corticosteroids, postnatal surfactant and improved respiratory management, have markedly improved survival outcomes since the 1990s, particularly for babies born very preterm (<32 weeks gestation). However, long-term pulmonary sequelae are frequent in preterm survivors and ongoing clinical management is often required.
Research
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
Research
Identification of subgroups of children in the Australian Autism Biobank using latent class analysisThe identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses.
Research
Impact of covid-19 restrictions on western Australian children’s physical activity and screen timePhysical activity is essential for children’s healthy development, yet COVID-19 physical distancing restrictions such as school closures and staying at home, playground closures, and the cancelling of organised community sport have dramatically altered children’s opportunities to be physically active. This study describes changes in levels of physical activity and screen time from February 2020 (i.e., before COVID-19 restrictions were introduced in Western Australia) to May 2020 (i.e., when COVID-19 restrictions were in place). Parents of children aged 5 to 9 years from Western Australia were eligible to participate and recruited through convenience sampling.
Research
Performance of antigen detection for HRP2-based malaria rapid diagnostic tests in community surveys: Tanzania, July–November 2017Malaria rapid diagnostic tests (RDTs) based on the detection of the Plasmodium falciparum histidine-rich protein 2 (HRP2) antigen are widely used for detection of active infection with this parasite and are the only practical malaria diagnostic test in some endemic settings.
Research
Lurasidone for Adolescents With Complex Mental Disorders: A Case SeriesLurasidone is a new second generation (atypical) antipsychotic agent with unique receptor affinity and side-effect profiles, but limited literature is available on its use in adolescent populations. Contrasting with research treatment trials which typically recruit patients by stringent selection criteria, this case series examined the effects and tolerability of using lurasidone in adolescents within real-life clinical settings in treating complex cases who had not responded to other therapy options. We conducted a retrospective case-note audit of 6 adolescents aged 14 to 17 years old attending community child and adolescent mental health services (CAMHS) who were prescribed lurasidone.
A powerful data tool developed by international child development researcher Professor Sally Brinkman and former research assistant Tom Brown could improve early childhood support for children around the world after being launched in Dubai this year.
A program unfolding in four very diverse locations across Western Australia is working to give children aged 0–4 the best start in life.
Not too long ago, if you had mentioned physical activity to educators at the Sonas Early Learning & Care centres run by Shelley Prendergast, they would automatically have reached for the trusty old obstacle course.
Aboriginal families and communities have endured the imposition of countless ‘solutions’ and had to live with the consequences of these ineffective initiatives. Those consequence are sadly evident in the unrelenting gap in outcomes for Aboriginal kids, compared with other Australian children.
In 1998, The Kids Research Institute Australia embarked on one of the most ambitious population health projects in Western Australian history.