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

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

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

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

Telethon Kids Institute's Adelaide facility has been officially opened by South Australian Premier Peter Malinauskas. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2023
• June

Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...

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

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood ...

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

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

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