Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• June 2009

Dosing errors are the most commonly reported medication error in children. Dosing is often prescribed per weight or based on body area. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

Unsedated infant lung function measures of tidal breathing, MBW, and eNO are feasible in a semi-rural African setting ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

Infant lung function (ILF) testing may provide useful information about lung growth and susceptibility to respiratory disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• December 2013

Liz Tim Davis Jones EA TW MBBS FRACP PhD MBBS DCH FRACP MD Head, Chronic & Severe Diseases Research Focus Area; Clinical Lead, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Head, Chronic & Severe Diseases Research Focus Area; ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Diabetes, Metabolism and Clinical Sciences
• Diabetes and Obesity Research
• Expired Projects

Immunological homeostasis in the respiratory tract is thought to require balanced interactions between networks of dendritic cell (DC) subsets in lung... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• November 2014

In this translational review, the mechanisms, roles, and impact of epithelial-mesenchymal transition in chronic lung diseases are discussed ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• June 2020

Information is accumulating which implicates airway inflammation resulting from respiratory viral infections, acting against a background of atopy. ...

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

Cystic fibrosis (CF) is characterized by small airway disease; but central airways may also be affected. We hypothesized that airway resistance estimated from computational fluid dynamic (CFD) methodology in infants with CF was higher than controls and that early airway inflammation in infants with CF is associated with airway resistance. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021

This study aimed to determine how pulmonary inflammation & infection impacts on ventilation distribution throughout early life in people with cystic fibrosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• September 2015

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

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