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A Longitudinal Study of Children's Hippocampal Development: Investigating Maternal Physical Activity, Depression, and Education

The developing hippocampus is particularly sensitive to early environmental influences, including during pregnancy. This longitudinal neuroimaging study examined associations between prenatal maternal physical activity and depression, maternal education, and hippocampal development from early childhood to early adolescence.

Is targeted cytomegalovirus testing of infants feasible in Western Australia? An observational study

Congenital cytomegalovirus (cCMV) is a common infection at birth with the potential to cause significant and permanent morbidity, most commonly hearing loss. Targeted cCMV testing programmes use hearing loss as an indicator of an infant being at high risk of the infection and thereby can 'target' or focus testing on those at greatest risk. Australian and International guidelines recommend that high-risk infants be offered cCMV testing, yet across Australia, a formal testing system does not exist.

Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome

To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.

Evaluating the scale-up of the Play Active programme for children’s physical activity in early childhood education and care services: a national type III hybrid effectiveness-implementation

Physical activity is crucial for young children's health and development. Many young children do not meet the recommended 3 hours of daily physical activity, including 60 min of energetic play. Early childhood education and care (ECEC/childcare) is a key setting to intervene to improve children's physical activity. The Play Active programme is a scalable evidence-informed ECEC-specific physical activity policy intervention with implementation support strategies to improve educators' physical activity-related practices.

The Hospitalization Cost of Pediatric Staphylococcus aureus Bacteremia

Staphylococcus aureus bacteremia (SAB) is the most common cause of childhood sepsis contributing to pediatric intensive care unit admission. The cost of adult SAB hospitalization is well described globally, but limited costing information is available for children. To bridge this knowledge gap, we investigated the cost of hospitalization in children with SAB in Australia.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

Longitudinal surveillance of group A streptococcal pharyngitis and impetigo in remote Western Australian school children informs acute rheumatic fever prevention

The prevalence of impetigo and pharyngitis - which are both superficial group A streptococcus (GAS) infections that precede acute rheumatic fever - is poorly defined. Guidelines recommend the early diagnosis of both infections to prevent ARF; however, screening to enable the concurrent detection of these infections in high-risk populations has rarely been performed.