Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research. ...

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

The IDEA system is a valuable resource to address the needs of people living with intellectual disability ...

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

Conception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy ...

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

To explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey. ...

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

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

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

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

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

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

Anna Hunt AH DipTch, BEd Research Administrator 08 6319 1290 Anna.Hunt@telethonkids.org.au Research Administrator she/her/hers Anna Hunt is a Research Administrator with the Youth Mental Health team. Anna’s background is in teaching. She completed a ...

• 1. Telethon Kids Institute
• Projects
• Past projects

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