The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. ...

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

This pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions. ...

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

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. ...

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

No clinical studies have examined the effect of mineral trioxide aggregate (MTA) obturation levels on the outcome of endodontic retreatment. This retrospective study examined treatment outcomes in three cohorts that compared overfilling, flush filling, and underfilling after orthograde retreatment using MTA. ...

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

Having a preterm (<37 weeks' gestation) birth may increase a woman's risk of early mortality. Aboriginal and Torres Strait Islander women have higher preterm birth and mortality rates compared with other Australian women. ...

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

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

To describe the effect of chronic pain on the activities of children and adolescents with cerebral palsy, to describe coping strategies, and to examine associations between effect of pain on activities, coping strategies, and level of pain. ...

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

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals. ...

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

The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved. ...

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