To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them. ...

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

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

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Respiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized ...

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

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

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

Over 5 days, 120 schoolchildren from two schools in the remote Kimberley region of Australia were screened for Strep A pharyngitis. Molecular point-of-care testing identified Strep A pharyngitis in 13/18 (72.2%) symptomatic children. The portability and feasibility of molecular point-of-care testing was highly practical for remote settings. ...

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

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants ...

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

A better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF ...

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

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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

Using linked data, we describe changes in respiratory virus testing among children born in Western Australia in 1996-2012 ...

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