We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

Rheumatic heart disease (RHD) is the most important cause of acquired cardiovascular disease in children and young adults. Virtually non-existent in most of Australia, it still predominantly affects Aboriginal communities. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

There are no well-established biomedical treatments for the core symptoms of autism spectrum disorder (ASD). A small number of studies suggest that repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, may improve clinical and cognitive outcomes in ASD. ...

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

Our findings illustrate the vulnerabilities of children born to foreign women from low and middle-income countries ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

Because of its beneficial off-target effects against non-mycobacterial infectious diseases, bacillus Calmette-Guérin vaccination might be an accessible early intervention to boost protection against novel pathogens. Multiple epidemiological studies and randomised controlled trials are investigating the protective effect of BCG against coronavirus disease 2019 (COVID-19). ...

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

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• January 2019

We review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• January 2019

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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

Prevalence and determinants of sleep problems in Rett syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• September 2016

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

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

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