Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework. ...

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

We describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population. This descriptive, population-based study examined congenital heart defects in live births, stillbirths and pregnancy terminations ascertained by the Western Australian Register of Developmental Anomalies, 1990-2016. ...

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

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations ...

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

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability ...

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

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome ...

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

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

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

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. ...

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

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials. ...

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

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

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