Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. ...

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

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. ...

• 1. 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 ...

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

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

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

Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au Peter.Jacoby@telethonkids.org.au Principal Research Fellow Biostatistician Authors: Downs J, ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• September 2010

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. ...

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

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation... ...

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

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

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

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

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

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome ...

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