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

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

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

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

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. ...

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

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. ...

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

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... ...

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

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

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

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. ...

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

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• February 2016