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

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

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

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 1. Telethon Kids Institute
• Projects

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

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

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents ...

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

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time ...

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

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI ...

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

This study aimed to describe overall survival and adult health in those with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• June 2014

Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months ...

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