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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.

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.

Ontogeny of plasma cytokine and chemokine concentrations across the first four months of human life in a Papua new Guinean cohort

Dynamic molecular changes in early life follow a robust ontogeny as the infant immune system adapts to the demands of its new environment. Studies of plasma immunomodulatory cytokines and chemokines have previously demonstrated ontogenetic patterns of immune development across the first week of life. However, how plasma cytokine and chemokines concentrations evolve over the first 4 months of life remains unknown. 

Development of the Breastfed Infant Oral Microbiome Is Associated with Concentrations and Intakes of Human Milk Oligosaccharides

Human milk oligosaccharides (HMOs) are bioactive carbohydrates abundant in human milk that shape the infant gut microbiome, yet their influence on the oral microbiome remains poorly understood. This study investigated associations between HMO concentrations and infant HMO intakes and the composition of the oral microbiome in predominantly and exclusively breastfed infants.

Parents’ Work–Family Conflict and Children’s Emotional Well-Being: The Mediating Role of Parenting Behaviors

Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.

A randomised trial of a trauma-informed well-being program to promote mental health in adolescents with type 1 diabetes: Study protocol

Children and young people with type 1 diabetes (T1D) experience high rates of mental ill health and stress due to the emotional and cognitive energy required to manage their condition. Our team has codesigned Wellbeing T1D, a brief trauma-informed online intervention for adolescents living with T1D. This 5-week intervention will teach skills to promote problem solving, improve emotional regulation and promote helpful thinking and coping.

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.

Inoculation Theory and Sport, Exercise, and Physical Activity

Movement is at the core of human existence. For infants and children, exploratory movement offers a scaffold for important learning and development outcomes, and in adolescents and adults, regular activity is key for promoting good physical and mental health.

Identifying Infants <32 Weeks' Gestation at Low Risk of Early-Onset Sepsis: A 10-Year Retrospective Study from Western Australia

Preterm infants are commonly treated with antibiotics on admission to the neonatal unit as part of routine care. We aimed to identify infants <32 weeks' gestation at low risk of early-onset sepsis (EOS) in whom antibiotics could be safely withheld.

Psychosocial aspects of early detection in type 1 diabetes: Language matters, decision making and support needs

The potential implementation of early type 1 diabetes (T1D) detection pathways, encompassing autoantibody screening and longitudinal monitoring, raises important psychosocial considerations for ethical, person-centred care. This review summarises evidence on the psychosocial impact of early T1D detection, identifying key evidence gaps and recommendations for integrating psychosocial support.