Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

This study suggests that broad-spectrum protection-of-pregnancy against infection-associated inflammatory stress represents an achievable therapeutic goal ...

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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

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

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

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

It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• August 2014

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