To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

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

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

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

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• December 2017

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• 1. Telethon Kids Institute
• Projects

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

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

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome ...

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