CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

Childhood is a critical period of immune development. During this time, naïve CD4 T cells undergo programmed cell differentiation, mediated by epigenetic changes, in response to external stimuli leading to a baseline homeostatic state that may determine lifelong disease risk. However, the ontogeny of epigenetic signatures associated with CD4 T cell activation during key developmental periods are yet to be described. ...

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

We aimed to determine whether regular consumption of egg protein from 4-6 month old reduced the risk of IgE-mediated egg allergy in infants without eczema. ...

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

Peanut allergy is the the most common cause of life-threatening food-induced anaphylaxis. There is currently no effective long-term treatment. There is a pressing need for definitive treatments that improve the quality of life and prevent fatalities. ...

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

This article discusses the relationships between gut colonization & inflammatory noncommunicable diseases, in regards to their treatment and prevention. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• November 2015

Vitamin D deficiency in a predominantly white Caucasian cohort of pregnant women is less prevalent than has been reported in other studies ...

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

Increased maternal egg ingestion is associated with increased breastmilk ovalbumin, and markers of immune tolerance in infants ...

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

The diagnosis of food allergy (FA) can be challenging because approximately half of food-sensitized patients are asymptomatic. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

HealthNuts is a single-centre, multi-wave, population-based longitudinal study designed to assess prevalence, determinants, natural history and allergy... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

Vitamin D status in early life has been linked to the risk of allergic disease in multiple observational studies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• January 2014

Alix Helen Keely Rigel Nicole Woolard Milroy Bebbington Paciente Wickens AW HM KB RP NW BPsych (Hons), PhD MBBS; FRANZCP; CATCAP MClinPsych/PhD MPH (Applied Public Health and Public Health Methodology), BSc (Anatomy and Human Biology) BHlthSc (Hons) ...

• 1. Telethon Kids Institute
• Projects

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

• 1. Telethon Kids Institute
• Projects