CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

With the emergence of novel vaccines and new applications for older vaccines, co-administration is increasingly likely. The immunomodulatory effects of BCG could theoretically alter the reactogenicity of co-administered vaccines. Using active surveillance in a randomised controlled trial, we aimed to determine whether co-administration of BCG vaccination changes the safety profile of influenza vaccination. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

Appropriate interpretation of pulmonary function tests (PFTs) involves the classification of observed values as within/outside the normal range based on a reference population of healthy individuals, integrating knowledge of physiological determinants of test results into functional classifications and integrating patterns with other clinical data to estimate prognosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

We hypothesised that adolescents with type 1 diabetes with a urinary albumin/creatinine ratio (ACR) in the upper tertile of the normal range (high ACR) are at greater risk of three-step diabetic retinopathy progression (3DR) independent of glycaemic control. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

Providing protection from malaria vector bites, both indoors and outdoors, is crucial to curbing malaria parasite transmission. Screening of house entry points, especially with incorporated insecticides, confers significant protection but remains a costly and labour-intensive application. Use of spatial repellents has shown promise in creating areas of protection in peri-domestic areas. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

Asthma and chronic obstructive pulmonary disease (COPD) are common chronic respiratory diseases, and some patients have overlapping disease features, termed asthma-COPD overlap. Patients characterized with ACO have increased disease severity; however, the mechanisms driving this have not been widely studied. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• May 2022

Mainstream youth mental health services struggle to comprehend the connection between colonisation and service provision for Aboriginal young people. This is the consensus agreed by Aboriginal Elders from Perth, Western Australia and young Aboriginal leaders within their communities. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

Plant DNA preserved in ancient specimens has recently gained importance as a tool in comparative genomics, allowing the investigation of evolutionary processes in plant genomes through time. However, recovering the genomic information contained in such specimens is challenging owing to the presence of secondary substances that limit DNA retrieval. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

The Population Health Research Network (PHRN) is an Australian national data linkage infrastructure that links a wide range of health and human services data in privacy-preserving ways. The data linkage infrastructure enables researchers to apply for access to routinely collected, linked, administrative data from the six states and two territories which make up the Commonwealth of Australia, as well as data collected by the Australian Government. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• April 2022

The purpose of this study was to characterise neonatal Staphylococcus aureus (SA) sepsis in Western Australia (WA) between 2001 and 2020 at the sole tertiary neonatal intensive care unit (NICU), examine risk factors for sepsis in the cohort, and compare short- and long-term outcomes to control infants without any sepsis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022