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Research

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au

Research

Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case series

Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.

Research

Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative review

Autistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.

Research

The Koolungar (Children) Moorditj (Strong) Healthy Skin Project Part I: Conducting First Nations Research in Pediatric Dermatology

Integrating First Nations knowledge systems and Western research methodologies recognizes the strength, experience, and insight of First Nations peoples in addressing health issues in their communities. In research, this includes projects being led by First Nations Elders and peoples, including First Nations researchers in the team, and collecting data in ways that reflect First Nations ways of knowing, being, and doing.

Research

“Our kids are our future”: Barriers and facilitators to vaccine uptake and timeliness among Aboriginal children younger than five years in Boorloo (Perth), Western Australia

Rates of several vaccine preventable diseases, and associated hospitalisation, are higher among Aboriginal and/or Torres Strait Islander children than non-Indigenous children. Western Australia has among the lowest childhood vaccine coverage in Australia, particularly among Aboriginal and/or Torres Strait Islander children. Delayed vaccination is also more common in this population. This project aimed to understand the barriers and facilitators to vaccine uptake and timeliness among Aboriginal and/or Torres Strait Islander children aged under five years in Boorloo (Perth). 

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Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group intervention

Young children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).

Research

‘People don't trust those pieces of paper that are provided’: A qualitative study of cultural planning and outsourced out-of-home care services in Western Australia

Aboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at elevated risk of adverse long-term life outcomes. Cultural connection in out-of-home care is essential for mitigating the impacts of trauma from removal, emphasizing the importance of ensuring that cultural planning is rigorously undertaken. This article explores the provision of cultural plans in an era where out-of-home care services are outsourced by government, but where government holds onto the responsibility for developing cultural plans for children in care.

Research

Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

Research

Beneficial health effects of ultraviolet radiation: expert review and conference report

Carcinogenic effects of ultraviolet radiation (UVR) with reference to skin cancer are the basis of widely implemented recommendations to avoid sun exposure. Whether the benefits of "restrictive sun policies" outweigh their potential harms due to diminished beneficial effects of sunlight exposure remain a matter of controversy.  

Research

Management and outcomes of children hospitalised with COVID-19 including incidental and nosocomial infections in Australia 2020–2023: A national surveillance study

Management and outcomes of children hospitalised with acute SARS-CoV-2 infection may differ throughout the pandemic or with admission type (clinical COVID-19, incidental COVID-19 or nosocomial infection).