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

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

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

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

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

To investigate the association between energy drink (ED) use and sleep-related disturbances in a population-based sample of young adults from the Raine Study. ...

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

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

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

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

Siblings of children with intellectual disability have unique family experiences, varying by type of disability. ...

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

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