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

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

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

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

To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users. ...

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

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

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

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

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

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children ...

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

Fetal alcohol spectrum disorder (FASD) is a lifelong disability of varying severity that occurs among individuals prenatally exposed to alcohol. Among Aboriginal and Torres Strait Islander (Indigenous) Australians, the effects of colonisation and ongoing racism could increase the risk of alcohol consumption during pregnancy. ...

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

To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP. ...

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

Energy drinks (EDs) are not recommended for minors' consumption due to a myriad of health risks, but marketing initiatives persist. This study explored the promotion of EDs on TikTok, a platform frequented by children and adolescents. ...

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

Fetal Alcohol Spectrum Disorder (FASD) is characterised by a range of neurodevelopmental deficits that may increase risks of justice system involvement. Improving our understanding of criminogenic risk factors and particularly the role of informant-rated executive functioning (EF) in predicting the age of offending onset in this clinical population may reduce recidivism and help inform targeted interventions. ...

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