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

Hybrid closed-loop (HCL) therapy improves glycaemic control in adolescents with type 1 diabetes; however, little is known about their lived experience using these systems. The aim of this study was to explore the lived experiences of youth with type 1 diabetes using HCL therapy, and their parents, to provide insight into their lived experiences. ...

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

this study is the first to show an association between immune activation history in the mother and increased ASD symptom severity in children with ASD ...

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

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study ...

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

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

An estimated half of all children with cerebral palsy also have comorbid intellectual disability, the domains of QOL for these children are not well understood ...

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

A pre-emptive intervention for the autism spectrum disorder prodrome had no immediate treatment effect on early autism spectrum disorder symptoms ...

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

The trivalent inactivated influenza vaccine is safe, immunogenic, provides clinical protection and should be administered annually to immunosuppressed children receiving treatment for cancer ...

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

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome ...

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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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