The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

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

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

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

Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...

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

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors ...

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

These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites. ...

• Rett syndrome and Related Disorders

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic... ...

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

We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family. ...

• Rett syndrome and Related Disorders

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes. ...

• Rett syndrome and Related Disorders
• Our Research

Prof Helen Leonard and Dr Jenny Downs recently visited Shenzhen, China to meet Chinese families and child neurologists from the Shenzhen Children's Hospital. ...

• Rett syndrome and Related Disorders
• News and events

Article title Fehr, S, Downs, J, Bebbington, A & Leonard, H 2010, 'Atypical presentations and specific genotypes are associated with a delay in ...

• Rett syndrome and Related Disorders
• Our Research
• Research snapshots