Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

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

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Probiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.  ...

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

Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

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

Gail Prue Shelley Alvares Hart Gorman GA PH S PhD BSc (Hons) MSc PhD BSc (Hons) PhD Senior Research Fellow Head, Inflammation Honorary Research Associate 08 6319 1698 gail.alvares@telethonkids.org.au prue.hart@telethonkids.org.au shelley.gorman@ ...

• 1. Telethon Kids Institute
• Projects

Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

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

Little attention has been given to the health status and lifestyle behaviours of expectant fathers. This study aimed to examine health-related variables in a cohort of expectant fathers to identify potential focus areas for interventions designed to optimise health and wellbeing outcomes in this group. ...

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

To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment. ...

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

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

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

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

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

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

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

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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