CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• June 2024

The assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform. ...

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

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• March 2012

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives ...

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

Long-term survival was lower for Aboriginal children with congenital heart defects ...

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

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

Early motor impairments have been reported in children with neurodevelopmental disorders (NDD), but it is not clear if early detection of motor impairments can identify children at risk for NDD or how early such impairments might be detected. Our aim was to characterize early motor function in children later diagnosed with NDD relative to typically developing children or normative data. ...

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

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research. ...

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

This study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder ...

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

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. ...

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

Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age ...

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

Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource.  ...

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