We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an... ...

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

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

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

Almost one in five children across four remote Kimberley communities has some form of chronic lung disease, according to a new study co-designed and conducted in partnership with Aboriginal communities. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2022
• October

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

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

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines. ...

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

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

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

Alexander David Martyn Larcombe Martino Symons A DM MS BScEnv (Hons) PhD BSc PhD B.A. (Hons) PhD. Team Leader, Respiratory Environmental Health Head, ...

• 1. Telethon Kids Institute
• Projects

To determine the constellation of lifestyle and demographic factors that are associated with poor mental health in an adolescent population. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Brown adipose tissue (BAT) may be an important metabolic regulator of whole-body glucose. While important roles have been ascribed to macrophages in regulating metabolic functions in BAT, little is known of the roles of other immune cells subsets, particularly dendritic cells (DCs). Eating a high-fat diet may compromise the development of hematopoietic stem and progenitor cells (HSPCs)-which give rise to DCs-in bone marrow, with less known of its effects in BAT. We have previously demonstrated that ongoing exposure to low-dose ultraviolet radiation (UVR) significantly reduced the 'whitening' effect of eating a high-fat diet upon interscapular (i) BAT of mice. ...

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

Primary ciliary dyskinesia (PCD) is a rare, progressive, inherited ciliopathic disorder, which is incurable and frequently complicated by the development of bronchiectasis. There are few randomised controlled trials (RCTs) involving children and adults with PCD and thus evidence of efficacy for interventions are usually extrapolated from people with cystic fibrosis. ...

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