Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

We investigated howautonomous and controlled motives for saving money contribute longitudinally to selfregulatory coping, goal progress, and psychological need satisfaction/frustration. We also investigated whether mental contrasting with implementation intentions (MCII) facilitates saving through interactions with controlled goal motives. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

This document updates the 2005 European Respiratory Society (ERS) and American Thoracic Society (ATS) technical standard for the measurement of lung volumes. The 2005 document integrated the recommendations of an ATS/ERS task force with those from an earlier National Heart, Lung, and Blood Institute workshop that led to the publication of background papers between 1995 and 1999 and a consensus workshop report with more in-depth descriptions and discussion. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

The structure and function of infant skin is not fully developed until 34 weeks of gestation, and this immaturity is associated with risk of late-onset sepsis (LOS). Topical coconut oil improves preterm-infant skin integrity and may reduce LOS. However, data on early-life skin-microbiome succession and potential effects of emollient skin care in preterm infants are scarce. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

BRAF genomic alterations are the most common oncogenic drivers in pediatric low-grade glioma. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

Undernutrition is a key driver of the global tuberculosis (TB) epidemic, yet there is limited understanding regarding the spatial overlap of both diseases. This study aimed to determine the geographical co-distribution and socio-climatic factors of undernutrition and TB in Ethiopia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

This paper argues for the enhancement of scoping review methods to incorporate Indigenous ways of knowing, being, and doing for more effective understandings of evidence of importance to Indigenous populations.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

Alanna Sincovich AS BPsych(Hons), PhD Senior Research Officer 08 6375 6108 Alanna.sincovich@telethonkids.org.au Senior Research Officer @ ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Population Health Program
• Early Years Systems Evidence

Stephen Yuliya Stick Karpievitch SM YK MB BChir PhD MRCP FRACP PhD, MS, BS Head, P4 Respiratory Health for Kids Ai and Data Analytics Lead, ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Respiratory Health Program
• P4 Respiratory Health for Kids