This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

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

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

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

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

Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics. ...

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

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

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 chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT. ...

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

The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• May 2013

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