This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

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

Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

• Telethon Kids Institute
• Projects

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. ...

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

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. ...

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

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

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

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

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

By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

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

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. ...

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

In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features ...

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

The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause... ...

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

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. ...

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

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• January 2018