This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

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

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome. ...

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

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome ...

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

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children. ...

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

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002 ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• December 2018

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• February 2018

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps. ...

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

Language is one of the most remarkable developmental accomplishments of early childhood. Language connects us with others and is an essential tool for literacy, education, employment and lifelong learning. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

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 review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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