Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

• Telethon Kids Institute
• Our research
• Research Topics

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• September 2010

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. ...

• 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. ...

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

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. ...

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

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

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

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

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

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

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