CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

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

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

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

Terrance W. Joost Ben Johns Lesterhuis Wylie T WJL BW BSc PhD Honorary Research Associate Program Head, Cancer; Chronic and Severe Diseases RFA Deputy Head Research Fellow, Sarcoma Translation Research Joost.Lesterhuis@telethonkids.org.au ben.wylie@ ...

• 1. Telethon Kids Institute
• Projects

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

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

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. ...

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

The aim of this systematic review was to review the evidence for serious gaming interventions in improving sensorimotor function in children and adults with cerebral palsy (CP). Seven databases were searched with terms related to serious gaming and CP. ...

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

The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks. ...

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

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

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

Individuals with the CDKL5 disorder have been described as having severely impaired development. ...

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

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

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

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

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

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

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