Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time... ...

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

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome. ...

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

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

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

With well-established evidence that early life conditions have a profound influence on lifespan and health-span, new interventional birth cohorts are examining ways to optimise health potential of individuals and communities. These are aimed at going beyond preventing disease, to the conditions that facilitate flourishing from an early age. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• May 2021

This study explores how the first wave of the COVID‐19 pandemic influenced family routines, relationships and technology use (smartphones and tablet computers) among families with infants. Infancy is known to be an important period for attachment security and future child development, and a time of being susceptible to changes within and outside of the family unit. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• December 2021

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

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

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

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

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

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

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
• Our research
• Reports and Findings
• 2023
• December 2023

As families increase their use of mobile touch screen devices (smartphones and tablet computers), there is potential for this use to influence parent-child interactions required to form a secure attachment during infancy, and thus future child developmental outcomes. Thirty families of infants (aged 9-15 months) were interviewed to explore how parents and infants use these devices, and how device use influenced parents' thoughts, feelings and behaviours towards their infant and other family interactions. ...

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