This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• August 2014

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

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

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

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

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

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

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• March 2008

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability. ...

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

Jenny Helen Downs Leonard JA HM BApplSci (physio) MSc PhD MBChB MPH Program Head, Development and Disability Principal Research Fellow 08 6319 1763 +61 419 956 946 Jenny.Downs@telethonkids.org.au helen.leonard@telethonkids.org.au Head, Child ...

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

Bone mass and density are low in females with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 1. Telethon Kids Institute
• Projects