Graham Ingrid Shannon Hall Laing Simpson GL IL SS BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc PhD BMedSci (hons), PhD Honorary Research Associate Head, Children's Respiratory Science Co-Head, Children's Lung Health; Senior Research Fellow 6319 1828 ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Francis Steve Mitrou Zubrick FG SR BEc FASSA, FAAMHS, MSc AM PhD Program Head, Population Health, and Team Head, Human Development and Community Wellbeing Honorary Emeritus Research Fellow 08 6319 1499 08 6319 1409 francis.mitrou@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects
• The ARC Centre of Excellence for Children and Families over the Life Course

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

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

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

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

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

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

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

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