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
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• 2022
• February 2022

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

• 1. Telethon Kids Institute
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• 2018
• September 2018

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

• 1. Telethon Kids Institute
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Maternal pre-pregnancy obesity has been linked with an increased risk for negative emotionality and inattentiveness in offspring in early childhood. ...

• 1. Telethon Kids Institute
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• 2013
• January 2013

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder ...

• 1. Telethon Kids Institute
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• 2019
• February 2019

Researchers from the Telethon Institute have today been awarded $3.46 million in competitive grants and two early career fellowships from the NHMRC. ...

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• 2012
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Evidence suggests consumption of a Mediterranean diet (MD) can positively impact both maternal and offspring health, potentially mediated by a beneficial effect on inflammatory pathways. We aimed to apply metabolic profiling of serum and urine samples to assess differences between women who were stratified into high and low alignment to a MD throughout pregnancy and investigate the relationship of the diet to inflammatory markers.   ...

• 1. Telethon Kids Institute
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• 2023
• December 2023

Desiree Silva DS MBBS, FRACP, MPH, PhD Co-Head, The ORIGINS Project Co-Head, The ORIGINS Project Professor Desiree Silva is co-director for the ...

• 1. Telethon Kids Institute
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We have a great opportunity for an enthusiastic individual with a breadth of technical skills to assist child health researchers with their data ...

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To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals. ...

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