MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• July 2006

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• March 2010

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• December 2008

Atelectasis has been reported in 68 to 100% of children undergoing general anaesthesia, a phenomenon that persists into the recovery period. Children receiving recruitment manoeuvres have less atelectasis and fewer episodes of oxygen desaturation during emergence. The optimal type of recruitment manoeuvre is unclear and may be influenced by the airway device chosen. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• July 2024

Patient positioning interacts with a number of body systems and can impact clinically important perioperative outcomes. In this educational review, we present the available evidence on the impact that patient positioning can have in the pediatric perioperative setting. A literature search was conducted using search terms that focused on pediatric perioperative outcomes prioritized by contemporary research in this area. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• March 2024

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

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

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

A previous cohort of adenotonsillectomy patients at our institution demonstrated moderate-severe post-tonsillectomy pain scores lasting a median (range) duration of 6 (0-23) days and postdischarge nausea and vomiting affecting 8% of children on day 1 following surgery. In this subsequent cohort, we evaluate the impact of changes to our discharge medication and parental education on post-tonsillectomy pain and recovery profile. ...

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

There were no statistically significant associations between time spent outdoors and adiposity ...

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

We examined the association of maternal factors and infant nutrition, with the subsequent diagnosis of NAFLD in adolescents ...

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

Emerging findings suggest a protective role for ultraviolet radiation (UVR) and sun exposure in reducing the development of obesity and cardiometabolic dysfunction, but more epidemiological and clinical research is required that focuses on measuring the direct associations and effects of exposure to UVR in humans. ...

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

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is... ...

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