Reports and Findings
Research
Mandatory fortification with folic acid for the prevention of neural tube defects: a case study of Australia and New ZealandTo present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand.
Research
Australian children living with rare diseases: health service use and barriers to accessing careChildren 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 healthcare.
Research
A Single-Centre Retrospective Review of Modified Blalock-Taussig Shunts: A 22-Year ExperienceThis 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 to a midline sternotomy. Risks and outcomes of this approach are compared with national and international literature.
Research
Parent experiences of their children’s diagnosis with autism, attention deficit hyperactivity disorder, or both conditionsA 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 conditions.
Research
SAMStat 2: quality control for next generation sequencing dataSAMStat 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 allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.
Research
Parents' COVID-19 vaccine intentions for children under 5 years: Brief reflections from a qualitative studyAustralian 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 parents are motivated and able to vaccinate. By examining parents' vaccine intentions, this study aims to inform current and future COVID-19 vaccine roll-outs for children aged under 5 years.
Research
Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trialsCDKL5 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 evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
Research
Psychological distress and quality of life in asymptomatic adults following provision of imaging results for prevention of cardiovascular disease events: a scoping reviewPsychological 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 trials or interventions.
Research
Health promotion is central to the establishment of an Australian Centre for Disease ControlMelinda Edmunds BSc Program Manager, Ear Health Melinda.Edmunds@telethonkids.org.au Program Manager Melinda is the Program Manager of the Ear Health team, which sits in the Wesfarmers Centre of Vaccines and Infectious Diseases. Melinda has 15
Research
A Gender Lens on User Quality Ratings From Young Teenagers Assessing the Sun Safe App: Comparing Responses From Co-researchers and Participants of Pilot Intervention StudiesWe 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 when the UV index is ≥3. Important features include real-time and location-specific weather data on the UV index and gamified educational content.