The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

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

Prevalence and determinants of sleep problems in Rett syndrome ...

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

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome ...

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

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

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

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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

We discuss how the choice of probiotic strains, timing and duration of administration can critically influence the outcome due to different effects on immune modulation and gut microbiota composition ...

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

This paper is a comment in response to a review of Vitamin D status and its association with ill health. ...

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

Background: The incidence rates of childhood onset type 1 diabetes are almost universally increasing across the globe but the aetiology of the disease... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• January 2011

Respiratory adverse events in adults with COVID-19 undergoing general anaesthesia can be life-threatening. However, there remains a knowledge gap about respiratory adverse events in children with COVID-19. We created an international observational registry to collect airway management outcomes in children with COVID-19 who were having a general anaesthetic. ...

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

Daily physical activity is critical during the early years of life for facilitating children's health and development. A large proportion of preschool children do not achieve the recommended 3 h of daily physical activity. Early childhood education and care (ECEC) services are a key setting to intervene to increase physical activity. There is a significant need for ECEC specific physical activity policy, including clearer guidelines on the amount of physical activity children should do during care, and strategies for implementation of these guidelines. ...

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

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 ...

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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