A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

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

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

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

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences. ...

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

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

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

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

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

Brad Carol Shelley Farrant Michie Gorman Investigators BM C S Andrea Begley Dr Andrea Begley is an advanced accredited practicing dietitian with a focus on public health nutrition. Andrea is currently an Associate Professor in the School of ...

• 1. Telethon Kids Institute
• Projects

Gina Matt Francis Trapp Cooper Mitrou GT MC FG BHSc(Hons1A), RPHNutr, PhD BCA Marketing, BSc Statistics and Applied Statistics, PhD BEc ARC DECRA Fellow & Head of Food and Nutrition Research Manager, Biometrics Program Head, Population Health, and ...

• 1. Telethon Kids Institute
• Projects

Anthony Janessa Ruth Tim Kicic Pickering Thornton Barnett A Dr RT TB BSc (Hons) PhD BSc PhD PhD PhD Rothwell Family Fellow; Head, Airway Epithelial Research Senior Research Fellow (currently HOT NORTH Early Career Fellow) Co-head, Bacterial ...

• 1. Telethon Kids Institute
• Projects

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

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

Alanna Sincovich AS BPsych(Hons), PhD Senior Research Officer 08 6375 6108 Alanna.sincovich@telethonkids.org.au Senior Research Officer @AlannaSincovich Alanna is a Senior Research Officer at the Telethon Kids Institute. Her research takes a ...

• 1. Telethon Kids Institute
• Our research
• Brain and Behaviour
• Population Health Program
• Early Years Systems Evidence

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

Review and highlight of the significant advances made towards vaccine development and understanding of the immunology of otitis media ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• March 2020