CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively. ...

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

Previous studies showed that unfavourable weather conditions discourage physical activity. However, it remains unclear whether unfavourable weather conditions have a differential impact on physical activity in children compared with adults. ...

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

A collaboration between the Telethon Kids Institute and Joondalup Health Campus is poised to be a game-changer for early childhood development. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2018
• July

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder ...

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

The long-term cardiopulmonary outcomes following preterm birth during the surfactant era remain unclear. Respiratory symptoms, particularly exertional symptoms, are common in preterm children. Therefore, cardiopulmonary exercise testing may provide insights into the pathophysiology driving exertional respiratory symptoms in those born preterm. This review aims to outline the current knowledge of cardiopulmonary exercise testing in the assessment of children born preterm in the surfactant era. ...

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

Adolescents reporting any sychotic experiences in the past 12 months reported increased likelihood of non-accidental self-injury in the same time period ...

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

Promotion of regular physical activity is an integral part of diabetes care delivery and health care providers should promote this message at every available opportunity ...

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

Determine the effectiveness of 6 months' closed-loop compared with manually determined insulin dosing on time-in-target glucose range in adults with type 1 diabetes ...

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

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

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