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

Discover the impact of our achievements in the "real world". Our children's health research is having a genuine effect on improving the lives of kids worldwide. ...

• 1. Telethon Kids Institute
• About us

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• 1. Telethon Kids Institute
• Projects

Keely Leanne Amy Bebbington Fried Finlay-Jones KB LF AFJ MClinPsych/PhD BSc DipEd MSpEd EdD BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin ...

• 1. Telethon Kids Institute
• Projects

Yael Bep Gail Francis Jenny Hayley Ben Penelope Samantha Perry Uink Alvares Mitrou Downs Passmore Jackson Strauss Speirs YP BU GA FG JA HP BJ PS SS ...

• 1. Telethon Kids Institute
• Projects

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

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

The choice of RHD is telling: the disease is a marker of inequality, a novel lens for considering health systems and a feasible target for disease control. ...

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

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study ...

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