MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk ...

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

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

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

Probiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers ...

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

A population-based, stepped wedge, cluster randomized controlled trial of an enhanced model of early infant primary care ...

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

Use of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes. ...

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

Tele-dentistry can be useful to facilitate screening of children, especially those living in rural and remote communities, and during the COVID-19 pandemic. This study evaluated the feasibility of tele-dental screening for the identification of early childhood caries (ECC) in preschoolers using an app operated by their parents with remote review by oral-health therapists. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

Desiree Stephen Susan Silva Stick Prescott DS SM SL MBBS, FRACP, MPH, PhD MB BChir PhD MRCP FRACP MBBS BMedSci PhD FRACP Co-Head, The ORIGINS Project Head, P4 Respiratory Health for Kids Honorary Research Fellow susan.prescott@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

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

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

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