Article title Marr, C., Leonard, H., Torode, I., & Downs, J. (2015). Spinal fusion in girls with Rett syndrome: Family experiences and postoperative ...

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

Step 1. Assess what activities could be possible Step 2. Understand why the uptime activities are important for the person Step 3. Set your goals ...

• Rett syndrome and Related Disorders
• Resources
• ActiveRett
• How to get active

Article title Lor, L., Hill, K., Jacoby, P., Leonard, H., & Downs, J. (2015). A validation study of a modified Bouchard activity record that extends ...

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

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a... ...

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

Contact Us To find out any more information about how you can be involved, don't hesitate to contact us. Email: Helen.Leonard@telethonkids.org.au  ...

• Rett syndrome and Related Disorders
• Resources

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

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

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

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

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

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

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

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

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• February 2009