Search

Research

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Research

Early-life immune development is a critical factor in predicting the risk of childhood respiratory infections, asthma, and poor vaccine responses. Identifying immune endotypes that predispose children to these conditions could lead to the development of predictive biomarkers and early interventions, potentially improving long-term health outcomes. 

Research

Sex-specific developmental differences in brain structure have been documented in older children and adolescents, with females generally showing smaller overall brain volumes and earlier peak ages than males. However, sex differences in gray matter structural development in early childhood are less studied. We characterized sex-specific trajectories of gray matter volume development in children aged 2–8 years.  

Research

Autism early intervention research has indicated a research-to-practice gap, including continued use of practices with inadequate research support, and insufficient use of empirically supported practices. The present study explored the processes and mechanisms through which providers working with young children on the autism spectrum learn, select, and implement the various practices in their clinical repertoires. 

Research

During the coronavirus disease 2019 (COVID-19) pandemic, the infodemic has been highly visible. Vaccine-related advice and evidence-based guidelines for breastfeeding women have lagged, and, at times have been contradictory and confusing. Breastfeeding is an important public health issue with long-lasting health benefits for infants and mothers.

Research

Tamara Chris Valerie Veselinovic Brennan-Jones Swift BSc(Hons) MClinAud PhD PhD Clinical Research Fellow Head, Ear and Hearing Health Aboriginal

Research

Multiple breath washout is a lung function test based on tidal breathing that assesses lung volume and ventilation distribution. The aim of this analysis was to use the Global Lung Function Initiative methodology to develop all-age reference equations for the multiple breath washout indices lung clearance index and functional residual capacity.

Research

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

Chronic childhood constipation is a common problem that severely impacts quality of life. Recently, the efficacy of intrasphincteric botulinum toxin (botox) injection in breaking the cycle of constipation has been demonstrated. The current study aims to investigate response rate to treatment, symptom and examination finding associations, and identify associations between patient characteristics and outcome.

Research

This study aimed to investigate potential missed diagnoses of acute rheumatic fever and rheumatic heart disease during hospital-based care among persons subsequently identified with these conditions.