We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. ...

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

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• February 2017

Improving the lives of children with a disability and their families sits at the core of our team. ...

• Telethon Kids Institute
• Our research
• Brain and Behaviour
• Development and Disability

An estimated half of all children with cerebral palsy also have comorbid intellectual disability, the domains of QOL for these children are not well understood ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

The identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses. ...

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

Early parent-child interactions have a critical impact on the developmental outcomes of the child. It has been reported that infants with a family history of autism and their parents may engage in different patterns of behaviours during interaction compared to those without a family history of autism. This study investigated the association of parent-child interactions with child developmental outcomes of those with typical and elevated likelihood of autism. ...

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

Evidence suggests consumption of a Mediterranean diet (MD) can positively impact both maternal and offspring health, potentially mediated by a beneficial effect on inflammatory pathways. We aimed to apply metabolic profiling of serum and urine samples to assess differences between women who were stratified into high and low alignment to a MD throughout pregnancy and investigate the relationship of the diet to inflammatory markers.   ...

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