One of Telethon Kids Institute’s most influential researchers, who has played a seminal role in birth defect research and advocacy over a four-decade career, has won the Peter Wills Medal – the Australian research community’s flagship award. ...

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

Improving the lives of children with a disability and their families sits at the core of our team. ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Development and Disability

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and... ...

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

Publications which include members of the Alcohol and Pregnancy & FASD Research Team, from 2000 to the present. ...

• Alcohol and Pregnancy & FASD

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

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

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

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

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience... ...

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

The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective. ...

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

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

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