CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

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

There is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time. ...

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

Learn about the findings from the LiLo study. ...

• 1. Telethon Kids Institute
• Projects
• Language in Little Ones

Participate in one of our research studies and help make a difference to kids' health. ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2020
• In the pipeline

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

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

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

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

In healthy individuals, deep inspirations (DIs) taken prior to a bronchial challenge reduce the bronchoconstrictor response, which is termed... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• October 2012

Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate ...

• 1. Telethon Kids Institute
• Projects

Antibiotic exposure before or during pregnancy was associated with increased risk of childhood hospitalized infections ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• April 2018