Newborn bloodspot screening (NBS) is freely and universally available to babies born in Australia, with nearly 300 000 newborns screened each year. The NBS programme screens for approximately 30 conditions; however, there are hundreds of childhood conditions that could be treated if identified earlier and asymptomatically. Contemporary screening platforms have relied on mass spectrometry-based technologies, limiting surveillance to conditions with validated biomarkers detectable within the neonatal period. Advancements in metabolic techniques and genomics have expanded the range of conditions that could be detected. The NewbornsInSA research study will develop, validate and evaluate a novel multi-omic model of newborn screening, integrating metabolomic and genomic newborn screening as complementary methodologies.

Parents can opt in to additional NBS through NewbornsInSA during pregnancy or shortly after birth. One thousand prospectively recruited families will be offered genomic NBS by whole-genome sequencing, including analysis of a virtual gene panel of over 600 genes, and concurrent metabolomic screening. Clinically actionable pathogenic or likely pathogenic genetic variants will be reported to parents and whole genome sequencing data will be available on request for diagnostic reanalysis, if required later in life.

Acceptability of the NewbornsInSA programme will be evaluated through stakeholder engagement activities with healthcare professionals, members of the public and patient advocacy groups. Family experiences will be assessed using online surveys. The diagnostic yield, accuracy and the costs and consequences of the multi-omic NBS model will be assessed by comparison to standard-of-care NBS.

NewbornsInSA will investigate the acceptability, feasibility and cost-effectiveness of a multi-omic newborn screening model in a prospectively recruited South Australian population. We hypothesise that this approach will increase the number of conditions identified, reduce the time to diagnosis and facilitate earlier care with better outcomes for newborns with genetic conditions.

This research study has been ethically approved by the Women’s and Children’s Health Network Human Research Ethics Committee (2022/HRE00258 and 2023/HRE00236). Findings will be disseminated through peer-reviewed publication and conferences.

Despite the abundant evidence showing the benefits of muscle-strengthening exercise (MSE), no epidemiological tool is available for assessing MSE among Indonesian university students. This study is the first to adapt the Muscle-Strengthening Exercise Questionnaire (MSEQ) from its original English version into another language, specifically Indonesian, incorporating cultural adaptations and to pilot test it to assess its validity and reliability among university students in Indonesia.

Translation and cultural adaptation, content validity studies, concurrent validity studies and reliability studies were conducted following COnsensus-based Standards for the Selection of Health Status Measurement INstruments guidelines. Content validation, conducted with three experts and nine university students, informed the development of the MSEQ Indonesian version. The concurrent validity study compared the results of measuring MSE frequency, intensity, duration and volume with those of the 7-day diary and relative handgrip strength with 22 respondents for concurrent validity against subjective measurement and 70 respondents for concurrent validity against objective measurement. For the reliability study, 39 respondents were asked to fill the MSEQ Indonesian version twice with a time interval of 7 days.

The study involved 143 participants, including experts and university students from three universities across two different islands in Indonesia.

Single administration MSEQ, consecutive administration MSEQ and 7-day diary recording resulted in 0%, 33.8% and 68.5% dropout rate, respectively. Moderate-to-strong correlations were observed between the results for the weekly frequency, duration, intensity and volume of MSE and those of the 7-day diary and hand grip strength. Test–retest reliabilities were good to excellent for machine weight, holistic and overall MSE but poor for bodyweight MSE. In assessing the target muscle group, the MSEQ Indonesian version showed good test–retest reliability for machine-weight MSE but poor-to-very good test–retest reliability for bodyweight, free weight and holistic MSE.

Our study demonstrated the acceptable validity and reliability of the Indonesian version of the MSEQ for assessing MSE among university students in Indonesia, not only by comparing each dimension of MSE with subjective measures but also by comparing MSE volume with objective measures. To enhance the generalisability of these findings, future studies should assess the MSEQ Indonesian version in diverse adult populations by considering dropout rates found by our study, ensuring its broader applicability and sample size adequacy.