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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.
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.
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.
We assessed the impact of maternally derived pertussis antibodies on infant responses to a 2 + 1 vaccine schedule (6 weeks, 12 weeks, and 12 months). Infants with baseline antibodies showed lower IgG responses following the primary vaccination series, but this did not impair booster responses at 4 years of age.
The introduction of universal newborn hearing screening has allowed for early identification and diagnosis of children with severe-profound hearing loss. This study aims to provide the first Western Australian perspective on the surgical feasibility and safety of cochlear implantation before 12 months of age.
There is an urgent need for scalable interventions to promote physical activity in early childhood. An early childhood education and care physical activity policy intervention with implementation support strategies (Play Active) has been proposed for scale-up in Australia.
The neonatal skin is central to early survival and immune development. Far from being a passive mechanical barrier, it integrates physical, chemical, and microbial defences that together protect the infant in the immediate postnatal period. In preterm infants, structural immaturity, reduced antimicrobial capacity, and altered microbial colonisation confer heightened vulnerability to infection and inflammation.
Growing up in socioeconomic disadvantage increases risk of peer bullying at school. Both socioeconomic status and involvement in bullying are predictive of a range of adverse developmental outcomes. However, neither (a) the mechanisms whereby disadvantage increases bullying risk nor (b) the developmental outcomes for which bullying may mediate disadvantage are clear.
Alcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure resembling common patterns of alcohol consumption in pregnancy in humans.
Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.