MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

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

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

The neighbourhood physical environment has a weak but significant association with early childhood development ...

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

These data highlight the importance of recognising Sporotrichosis in children outside an outbreak setting ...

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

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

Admissions for ARI were higher in Western Australia and displayed greater socioeconomic disparities than England and Scotland, where ARI rates are increasing ...

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

We discovered a previously unknown major resistance mechanism in glioma in that most EGFR domain III-targeting antibodies do not neutralize EGFRvIII ...

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

A summary of the literature regarding the use of adjunctive protein synthesis inhibitors for toxin suppression in the setting of S. aureus infections is presented ...

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

The functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target ...

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

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