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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.

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.

Follow-up and Outcomes of Infants Perinatally-exposed to HIV in a Low-prevalence Setting: The Multicenter Children's HIV Exposure Study 2

To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence.  This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.

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.

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.

Impact of the Play Active policy intervention on early childhood educator's sedentary behaviour-related practices, psychosocial influences and meeting policy recommendations

High levels of sedentary behaviour are associated with poor child health outcomes such as obesity. Early childhood education and care (ECEC) services are a key intervention setting. Most ECEC policy-based interventions focus on children's nutrition and physical activity with few aimed at children's sedentary behaviour.

Parental work schedules and hours from a cross-national perspective: a welfare regime analysis on 29 countries

Technological advances have transformed when and for how long individuals work, a process associated with increasing polarization and precarity. Using the European Working Conditions Survey (2005-2015), we examined parental work schedules and hours across welfare regimes covering 29 European countries.

Children's views on outdoor advertising of unhealthy food and beverages near schools

Children are often exposed to unhealthy outdoor food advertisements during the school commute. This exposure can have negative public health consequences given childhood weight gain has been linked to the marketing of energy-dense and nutrient-poor foods. This study aimed to explore schoolchildren's lived experiences and attitudes towards outdoor advertising surrounding their schools. 

Topical antibiotics for chronic suppurative otitis media

Chronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media, is a chronic inflammation and often polymicrobial infection (involving more than one micro-organism) of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane.

Exploring Hope in Australian Justice Involved Youth with Fetal Alcohol Spectrum Disorder

Hope is well recognised as a positive protective factor for mental health, improved coping responses to adverse childhood events and better educational outcomes. Hope is composed of synergistic constituents – agency and pathway. A retrospective chart review was conducted of 53 justice-involved youths (10−17 years old) who underwent Fetal Alcohol Spectrum Disorder (FASD) diagnostic assessments with Patches in Western Australia between 2019 and 2020.