Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. ...

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

Probiotics are viable organisms that confer beneficial effects against a range of health disorders through interaction with the gastrointestinal tract. Prebiotics, on the other hand are ingredients necessary for probiotics to grow and carry out their function. The incorporation of prebiotics and probiotics in food products has led to the creation of functional foods which has had a direct beneficial effect on health. ...

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

Prenatal depressive symptoms are linked to negative child behavioral and cognitive outcomes and predict later psychopathology in adolescent children. Prior work links prenatal depressive symptoms to child brain structure in regions like the amygdala; however, the relationship between symptoms and the development of brain structure over time remains unclear. ...

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

The study aimed to explore sociocultural factors influencing the risk of malaria and practices and beliefs towards malaria prevention, transmission and treatment in a remote village in Khatyad Rural Municipality (KRM) of Nepal. A sequential exploratory mixed methods approach was used. ...

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

Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

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

This study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains. ...

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

Invasive fungal disease (IFD) remains a common and serious complication in children treated for leukaemia. Antifungal prescription in children with leukaemia presents unique challenges, particularly due to variation in IFD risk between and within leukaemia treatment protocols, drug toxicities and interactions between antifungals and chemotherapeutic agents. ...

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

The airway epithelium of children with asthma is characterized by aberrant repair that may be therapeutically modifiable. The development of epithelial-targeting therapeutics that enhance airway repair could provide a novel treatment avenue for childhood asthma. ...

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

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

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

Acute rheumatic fever (ARF), an autoimmune reaction to Group A Streptococcus (Streptococcus pyogenes; Strep A) infection, can cause rheumatic heart disease (RHD). New formulations of long-acting penicillins are being developed for secondary prophylaxis of ARF and RHD. ...

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