Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

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

Deborah Peter Lehmann Richmond D PC AO, MBBS, MSc MBBS MRCP(UK) FRACP Honorary Emeritus Fellow Head, Vaccine Trials Group Honorary Emeritus Fellow Head, Vaccine Trials Group Clinical Associate Professor Deborah Lehmann is a medical practitioner and ...

• 1. Telethon Kids Institute
• Projects

Helen Samantha Monks Veurink H SV MPH BA(Psych) PhD BSc PostGradDip MPH Senior Project Officer Research Officer 08 6319 1470 08 6319 1492 helen.monks@telethonkids.org.au Samantha.Veurink@telethonkids.org.au Senior Research Officer Research Officer ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. ...

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

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals. ...

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

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. ...

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

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

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

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• March 2008

Amy Bep Finlay-Jones Uink AFJ BU BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BPsych(Hons.), MAppPsy(Clinical), PhD Head, Early Neurodevelopment & Mental Health; Healthway WA Senior Research Fellow Honorary Research Associate +61 8 ...

• 1. Telethon Kids Institute
• Projects

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. ...

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

Here, we present the abstracts and proceedings of our 8th annual conference, held in Detroit, Michigan in May 2019, themed "From Challenges, to Opportunities" ...

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

Indigenous children in colonised nations experience high rates of health disparities linked to historical trauma resulting from displacement and dispossession, as well as ongoing systemic racism. Skin infections and their complications are one such health inequity, with the highest global burden described in remote-living Australian Aboriginal and/or Torres Strait Islander (hereafter respectfully referred to as Aboriginal) children. Yet despite increasing urbanisation, little is known about the skin infection burden for urban-living Aboriginal children. ...

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