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

Benefits in teaching the Alert Program® to students in a region with high reported rates of foetal alcohol spectrum disorder and self-regulation impairment ...

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

Rachel Graham Foong Hall RF GL BSc (hons), PhD, MBiostat BAppSci PhD CRFS FANZSRS FThorSoc FERS Senior Research Fellow Honorary Research Associate 08 6319 1626 Rachel.Foong@telethonkids.org.au Senior Research Fellow Honorary Research Associate Dr ...

• 1. Telethon Kids Institute
• Projects

Despite the substantial burden of lung disease throughout childhood in children who were born very preterm, there are no evidence-based interventions to improve lung health beyond the neonatal period. We tested the hypothesis that inhaled corticosteroid improves lung function in this population. ...

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

Pat Belinda Holt Hales PG BJ PhD, DSc, FRCPath, FRCPI, FAA BSc (Hons) PhD Emeritus Honorary Researcher Senior Manager, Research Platforms Patrick.Holt@telethonkids.org.au belinda.hales@telethonkids.org.au Emeritus Honorary Researcher Senior Manager ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Human Immunology

ASD, in the context of prenatal maternal stress exposure, may be associated with a more severe phenotype, particularly when there are multiple prenatal exposures ...

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

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. ...

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

As we discuss, equal weekly visits to major fast-food outlets by the affluent and deprived do not translate into biological equivalency. ...

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

We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• November 2013

The objective was to investigate the association between heavy prenatal alcohol exposure and stillbirth. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• May 2012

Our findings only lend partial support to a link between diet and mental health, specific to females consuming a Western diet and to externalizing behaviours ...

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

increased adherence to penicillin prophylaxis is associated with reduced acute rheumatic fever recurrence and a likely reduction in mortality ...

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