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Association Between First-Trimester Medication Exposure in Pregnancy and Congenital Anomalies: A Scoping Review of Cohorts, Exposure, Trimester and Congenital Anomaly Definitions

The risk of congenital anomalies following first-trimester medication exposure is an important indicator of medication safety during pregnancy. Retrospective cohort studies using routinely collected data are commonly used to assess this risk, yet methodological inconsistencies-such as how cohorts, exposures, timings and outcomes are defined-can compromise reproducibility and validity. This scoping review examined the methodologies used in retrospective cohort studies assessing the association between first-trimester prenatal medication exposure and congenital anomalies.

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.

The impact of child self-regulation difficulties on parents: A qualitative study

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. 

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.

Child Development Interventions Among Indigenous Peoples in Australia, Canada, New Zealand, and the United States: A Scoping Review

Children's development is dependent on a range of factors influencing their life course outcomes. Protective and challenging social and cultural determinants impact how Indigenous families support their children's developmental foundations. However, there is a lack of international evidence investigating Indigenous child development interventions.

An Old Story Back: Human Milk Antibodies' Protective Roles Against Allergy Development

Human milk is a rich source of immunomodulatory factors that influence the development of the infant immune system, including susceptibility to allergic diseases. Among these components, milk antibodies have been extensively studied for their role in protecting against infections; however, their potential contribution to allergy prevention may be equally important. The mechanisms of protection include allergen exclusion, enhanced and targeted antigen presentation, immune modulation via shaping of the infant gut microbiome, and direct regulation of gut immune responses. 

Prenatal ambient heat exposure and neurodevelopment: A scoping review of human and animal research

Ambient heat exposure during pregnancy is associated with adverse outcomes, and adverse neurodevelopmental outcomes are an emerging concern. This scoping review synthesises human and animal evidence on the association between prenatal ambient heat exposure and poor neurodevelopmental outcomes.

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.

Clinical Predictors of Longitudinal Respiratory Exacerbation Outcomes in Young Hospitalised Children

Respiratory infection and wheezing illness are leading causes of hospitalisation in childhood, placing a significant burden on families and healthcare systems. However, reliably distinguishing children at risk of developing persistent disease from those likely to outgrow their symptoms remains a clinical challenge. Earlier identification would allow clinicians to focus care and resources on those most likely to benefit from long-term management, while reducing anxiety and uncertainty about the future for families.

Children arriving hungry in the first year of school: population trends in Australia from 2009 to 2021

Access to adequate nutrition is a human right. In 2023, 23% of Australian households were severely food insecure, reducing food intake, skipping meals or days of eating. Food insecurity in early childhood is linked to poor health and development. Specifically, breakfast provides children with the necessary nutrients required for sustained attention, memory, and cognitive growth. Australian research has reported that one in three children aged 8–18 years regularly skip breakfast. However, there is little understanding of the prevalence of food insecurity among young children in Australia.