Emotional disorders are pervasive in the acquired brain injury (ABI) population, adversely affecting quality of life and rehabilitation. This study aimed to explore the unique associative effects of alexithymia as measured by the Perth Alexithymia Questionnaire. ...

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

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Young children who have developmental delay, autism, or other neurodevelopmental conditions can have difficulties doing things in different areas of their life. What they can and cannot do is called their level of functioning. There are lots of assessment measures that aim to assess functioning. ...

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

The immunological changes underpinning acquisition of remission (also called sustained unresponsiveness) following food immunotherapy remain poorly defined. Limited access to effective therapies and biosamples from treatment responders has prevented progress. Probiotic peanut oral immunotherapy is highly effective at inducing remission, providing an opportunity to investigate immune changes. ...

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

Excessive production, secretion, and retention of abnormal mucus is a pathological feature of many obstructive airways diseases including asthma. Azithromycin is an antibiotic that also possesses immunomodulatory and mucoregulatory activities, which may contribute to the clinical effectiveness of azithromycin in asthma. ...

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

There is limited evidence supporting the recommendation that drivers with insulin-treated diabetes need to start journeys with glucose >90 mg/dL. Glucose levels of drivers with type 1 diabetes were monitored for 3 weeks using masked continuous glucose monitoring (CGM). ...

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

Type 2 diabetes in young adults (nominally, 18–30 years of age) is a more aggressive condition than that seen in older age, with a greater risk of major morbidity and early mortality. This first Australian consensus statement on the management of type 2 diabetes in young adults considers areas where existing type 2 diabetes guidance, directed mainly towards older adults, may not be appropriate or relevant for the young adult population. ...

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

The Lililwan Project was the first Australian population-based prevalence study of fetal alcohol spectrum disorder (FASD) using active case ascertainment. Conducted in 2010-2011, the study included 95% of all eligible children aged 7-9 years living in the very remote Aboriginal communities of the Fitzroy Valley, Western Australia. ...

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

High medication literacy is the basis of rational medication application and is essential for the management of severe adverse drug reactions. The objective of the present study was to assess the level of medication literacy and determine the association between medication literacy and skin adverse drug reactions in non-small-cell lung cancer (NSCLC) patients undergoing targeted epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) therapy. ...

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

Previous studies have suggested that individuals recovered from anorexia nervosa (AN) are characterized by increased serotonergic (5-HT) activity that might be related to elevated levels of anxiety. Assuming these traits to be also present in individuals at risk for AN, it was further hypothesized that restricting food intake might be a means to temporarily alleviate dysphoric affective states by reducing central nervous availability of tryptophan (TRP), the sole precursor of 5-HT. ...

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

Pineal volume reductions have been reported in schizophrenia and clinical high-risk states for the development of psychosis, supporting the role of melatonin dysregulation in the pathophysiology of psychosis. ...

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

In comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024