Life-changing decision helping Samuel to thrive For Perth mum-of-three Natalie Hevron, the word ‘gastrostomy’ is interchangeable with ‘godsend’. She ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2023
• Research translation

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

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

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

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

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

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

Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

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

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• October 2007

Australia's first national diagnostic tool for Fetal Alcohol Spectrum Disorder (FASD) has been developed by researchers at the Telethon Kids Institute and the U ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2016
• September

A study of the Western Australian justice system has identified that 85% of staff say responding to the needs of people with FASD is an issue in their work. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2013
• April