This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

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

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

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

Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

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

With well-established evidence that early life conditions have a profound influence on lifespan and health-span, new interventional birth cohorts are examining ways to optimise health potential of individuals and communities. These are aimed at going beyond preventing disease, to the conditions that facilitate flourishing from an early age. ...

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

Emma Helen Jenny Peter Glasson Leonard Downs Jacoby EJ HM JA PJ BPsych BSc (Hons) PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Senior Research Fellow Principal Research Fellow Program Head, Development and Disability Biostatistician +61 ...

• 1. Telethon Kids Institute
• Projects

Desiree Silva DS MBBS, FRACP, MPH, PhD Co-Head, The ORIGINS Project Co-Head, The ORIGINS Project Professor Desiree Silva is co-director for the ORIGINS Project and a professor of paediatrics at the University of Western Australia and Joondalup ...

• 1. Telethon Kids Institute
• Projects

Desiree Silva DS MBBS, FRACP, MPH, PhD Co-Head, The ORIGINS Project Co-Head, The ORIGINS Project Professor Desiree Silva is co-director for the ORIGINS Project and a professor of paediatrics at the University of Western Australia and Joondalup ...

• 1. Telethon Kids Institute
• Projects

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

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

This study aimed to validate measures of sedentary time in individuals with Rett syndrome. ...

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

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. ...

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

To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions. ...

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

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