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Research

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

Research

Prechtl's General Movement Assessment (GMA) at fidgety age (3-5 months) is a widely used tool for early detection of cerebral palsy. Further to GMA classification, detailed assessment of movement patterns at fidgety age is conducted with the Motor Optimality Score-Revised. 

Research

Few studies have examined associations between gender non-conformity (GNC) in childhood or adolescence and mental health outcomes later in life. This study examined associations between GNC and mental health over multiple time points in childhood and adolescence, and GNC in childhood and/or adolescence and mental health in adulthood.

Research

Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development.

Research

Managing the care regimen for Type 1 Diabetes is challenging for emerging adults, as they take on greater responsibility for self-management. A diverse range of models of care have been implemented to improve safety and quality of care during transition between paediatric and adult services. However, evidence about acceptability and effectiveness of these is limited.

Research

Most estimates of stroke incidence among Aboriginal and Torres Strait Islander (hereinafter Aboriginal) Australians are confined to single regions and include small sample sizes. We aimed to measure and compare stroke incidence in Aboriginal and non-Aboriginal residents across central and western Australia.

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To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.

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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.

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Increasingly, preterm-born children are entering adulthood as survival at earlier gestational ages improves. However, there is little understanding of the lived experience in preterm-born adults.

Research

Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.