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Research

Left ventricular remodelling in rheumatic heart disease – trends over time and implications for follow-up in childhood

Rheumatic heart disease (RHD) is the most common form of acquired heart disease worldwide. In RHD, volume loading from mitral regurgitation leads to left ventricular (LV) dilatation, increased wall stress, and ultimately LV dysfunction. Improved understanding of LV dynamics may contribute to refined timing of intervention.

Research

Parent-Child Interactions May Help to Explain Relations Between Parent Characteristics and Clinically Observed Child Autistic Behaviours

The importance of supporting parent-child interactions has been noted in the context of prodromal autism, but little consideration has been given to the possible contributing role of parental characteristics, such as psychological distress. This cross-sectional study tested models in which parent-child interaction variables mediated relations between parent characteristics and child autistic behaviour in a sample of families whose infant demonstrated early signs of autism.

Research

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

Research

Implications of Non-Specific Effects for Testing, Approving, and Regulating Vaccines

The current framework for testing and regulating vaccines was established before the realization that vaccines, in addition to their effect against the vaccine-specific disease, may also have "non-specific effects" affecting the risk of unrelated diseases. Accumulating evidence from epidemiological studies shows that vaccines in some situations can affect all-cause mortality and morbidity in ways that are not explained by the prevention of the vaccine-targeted disease.

Research

Physical activity management for youth with type 1 diabetes: Supporting active and inactive children

Regular physical activity and exercise are important for youth and essential components of a healthy lifestyle. For youth with type 1 diabetes, regular physical activity can promote cardiovascular fitness, bone health, insulin sensitivity, and glucose management. However, the number of youth with type 1 diabetes who regularly meet minimum physical activity guidelines is low, and many encounter barriers to regular physical activity.

Research

Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.

Research

Current parenteral nutrition practice and clinical outcomes of term and late preterm infants: A retrospective study

Limited studies have described parenteral nutrition (PN) practices and clinical outcomes in term and late preterm infants. The aim of this study was to describe the current practice of PN in term and late preterm infants and their short-term clinical outcomes.

Research

An unbiased exploration of the human regulatory landscape

We are made up of hundreds of different cell types carrying out a diverse range of functions essential for organism survival. All the information required to specify the morphology, function and response to stimuli of these cells is encoded in identical copies of the genome. The process of gene regu

Neonatal Health

Preterm babies have a heightened risk of infection as their immune system is not mature. The Neonatal Health Team is exploring new ways to diagnose, prevent and treat infections in WA's smallest patients .

News & Events

Exposure to diesel exhaust increases risk of child brain tumours

Research at Telethon Institute has shown a correlation between brain tumours in young children and their parents' exposure to diesel exhaust fumes before birth.