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Research

Pathogenic 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

There are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.

Research

Sugar-sweetened beverages (SSBs) account for a significant proportion of sugar in the diet of children and are directly associated with obesity in this group. While there have been many studies on adolescent SSB consumption, few studies have examined the predictors of SSB consumption in primary-school-aged children. The aim of this study was to understand the degree to which a child's consumption across a range of beverages is influenced by their own attitudes and by their parents' attitudes and parents' consumption behaviours.

Research

Noroviruses are one of the most common causes of gastroenteritis in all age groups, including children. However, little has been reported on the transmission of norovirus within childcare facilities and the subsequent impact at the household level.

Research

Objectives: To investigate in a cluster-randomised trial whether a campaign with oral polio vaccine (C-OPV) reduced mortality and morbidity.

Research

Respiratory Syncytial Virus (RSV) causes a significant burden of illness for children under 2 years of age. Nirsevimab, a long-acting monoclonal antibody, was registered for RSV prevention in Australia in 2023. In April 2024, Western Australia (WA) launched the country's first state-wide nirsevimab program for all infants and high-risk children entering their second RSV season. 

Research

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Research

Aboriginal and Torres Strait Islander Peoples are custodians of one of the oldest living societies; however, the continued impact of colonisation has led to profound trauma and loss which has spanned generations.

Research

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Research

Parent involvement strongly correlates with children's educational attainment. Sociocultural shifts in parenting roles and shared responsibilities have driven an increase in the need for involvement of fathers in activities to support their children's educational development. Several factors are thought to influence father involvement in children's education; however, the most salient factors remain unclear.