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Research

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

Research

COVID-19 in children: I. Epidemiology, prevention and indirect impacts

Children globally have been profoundly impacted by the coronavirus disease 2019 (COVID-19) pandemic. This review explores the direct and indirect public health impacts of COVID-19 on children. We discuss in detail the transmission dynamics, vaccination strategies and, importantly, the ‘shadow pandemic’, encompassing underappreciated indirect impacts of the pandemic on children.

Research

High prevalence of hearing loss in urban Aboriginal infants: the Djaalinj Waakinj cohort study

Chris Deborah Tamara Brennan-Jones Lehmann Veselinovic PhD AO, MBBS, MSc BSc(Hons) MClinAud PhD Head, Ear and Hearing Health Honorary Emeritus Fellow

Research

Echinocandins in Pediatric Invasive Candidiasis and the Challenges of Antifungal Use in Children

In pediatric invasive candidiasis (IC), epidemiology and risk factors differ compared to adults. Furthermore, the use of antifungals in children is challenging and requires consideration of availability and tolerability of formulations, pharmacokinetic and pharmacodynamic variations, and safety in different age groups.

Research

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

Research

Early Intervention Delivery Methods for New Zealand Children with Autism: Current Practices Versus Parental Preferences

Little is known about parent preferences regarding delivery methods of early interventions. This research examined, through parent report, the current and preferred delivery methods of seven common educational early interventions accessed by New Zealand children with autism spectrum disorder.

Research

Phage therapy for multi-drug resistant respiratory tract infections

The emergence of multi-drug resistant (MDR) bacteria is recognised today as one of the greatest challenges to public health. As traditional antimicrobials are becoming ineffective and research into new antibiotics is diminishing, a number of alternative treatments for MDR bacteria have been receiving greater attention. Bacteriophage therapies are being revisited and present a promising opportunity to reduce the burden of bacterial infection in this post-antibiotic era.

Research

Brain-behavior links in autism spectrum disorder across the lifespan

Andrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids

Research

The relationship between meal carbohydrate quantity and the insulin to carbohydrate ratio required to maintain glycaemia is non-linear in young people with type 1 diabetes: A randomized crossover trial

To determine if the relationship between meal carbohydrate quantity and the insulin to carbohydrate ratio (ICR) required to maintain glycaemia is linear in people with type 1 diabetes.

Research

The Effect of Hypoglycemia on Spectral Moments in EEG Epochs of Different Durations in Type 1 Diabetes Patients

The potential of using an electroencephalogram (EEG) to detect hypoglycemia in patients with type 1 diabetes has been investigated in both time and frequency domains. Under hyperinsulinemic hypoglycemic clamp conditions, we have shown that the brain's response to hypoglycemic episodes could be described by the centroid frequency and spectral gyration radius evaluated from spectral moments of EEG signals.