This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• March 2013

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved. ...

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

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. ...

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

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period ...

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

Bone mass and density are low in females with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

Emily Terrance Anya Brittany Fletcher Johns Jones Dewdney EF T AJ BD BSc (Hons) MRes PhD BSc MSc PhD BSc, MBSc, PhD Senior Research Fellow Honorary Research Associate Honorary Research Associate Postdoctoral Researcher - Oncogenic Signalling ...

• 1. Telethon Kids Institute
• Projects