Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcar…
This single-centre retrospective study explores demographics and outcomes of patients who underwent a modified Blalock-Taussig shunt (MBTS) over a 22-year period. The predominant surgical approach in this study is a lateral thoracotomy, in contrast…
A comparison of parents’ experiences of getting a diagnosis for their child with autism, attention deficit hyperactivity disorder (ADHD) and both diagnoses can inform our understanding of common and unique themes across these neurodevelopmental cond…
SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This al…
Australian authorities made COVID-19 vaccines available for children aged under 5 years old with serious comorbidities in August 2022. There is presently no universal programme for young children, but crucial to any rollout's success is whether pare…
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to…
Psychological distress and changes in health-related quality of life may occur after screening for disease. Reporting outcomes related to potential benefits and harms of screening is a key recommendation in the guidelines for reporting high-quality…
We developed the iOS smartphone app Sun Safe to support healthy sun practices in young teenagers (aged 12-13 years). The production involved co-design with young co-researchers (ie, aged 12-13 years) with a health message of using sun protection whe…
Dysphagia, one of the most common complications in head and neck cancer (HNC) treated with radiotherapy, can severely affect patients’ quality of life. Currently, because no “gold standard” treatment exists, swallowing exercise remains the main reha…