There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

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

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

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

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

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

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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

The potential for human-computer interaction to have a substantial impact on adults is well documented. However, its potential importance prior to birth has rarely been reported. Parental use of smartphones and tablet computers could influence the relationship between parent and baby during pregnancy (prenatal attachment) and thus child development. ...

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

Melissa Helen O'Donnell Leonard M HM BPsych (Hons), MPsych, GradDip Ed, PhD MBChB MPH Honorary Research Associate Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Honorary Research Associate Principal Research Fellow ...

• 1. Telethon Kids Institute
• Projects

This study aimed to describe overall survival and adult health in those with Rett syndrome. ...

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

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement ...

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

Despite education about the risks of excessive sun exposure, teenagers in Australia are sun-seeking, with sunburn common in summer. Conversely, some regular (time-limited) exposure to sunlight (that avoids sunburn) is necessary for vitamin D and healthy bones and other molecules important for immune and metabolic health. New interventions are thus required to better support teenagers to make healthy and balanced decisions about their sun behaviors. ...

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

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

To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment. ...

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