Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• February 2007

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

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

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• February 2009

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• November 2007

Patients with a propensity for upper airway obstruction, including those with obstructive sleep apnea (OSA), are vulnerable in the perioperative period. OSA is an increasingly common disorder in children and, when present, is associated with an increased risk of perioperative respiratory adverse events (PRAE),1 morbidity, and mortality. Therefore, identifying at-risk patients is vital to provide tailored perioperative anesthetic management. ...

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

Perioperative respiratory adverse events are the most common cause of critical events in children undergoing anesthesia and surgery. While many risk factors remain unmodifiable, there are numerous anesthetic management decisions which can impact the incidence and impact of these events, especially in at-risk children. ...

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

The paediatric population has a low adherence and acceptance rate of unpalatable medicines. This study aimed to determine whether eating chocolate immediately prior to drug administration would help to mask the bitter taste of a drug. The difference in taste masking efficacy between white, milk and dark chocolate was a secondary measure outcome. ...

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

Tonsillectomy is one of the most common pediatric surgeries and results in considerable postoperative pain. Insufficiently managed pain is costly, risks physiological and psychological consequences with multi-modal analgesia widely recommended to minimize opioid-based agents. We determined adherence to multi-modal analgesia guidelines and assessed cost-effectiveness. We undertook a cross-sectional cohort study at a tertiary pediatric institution in Perth, Western Australia, retrospectively identifying selected patients undergoing tonsillectomy over two discrete periods of 6-week duration. ...

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

Survivors of CDH may have significant adverse long-term medical and psychosocial issues that would be better recognised and managed in a multidisciplinary clinic ...

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

Primary care practitioners have an important role in improving Aboriginal cardiovascular care outcomes ...

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

This research focuses on three questions 1) What are the patterns of stability & change; 2) what are the predictors of this progression, and; 3) what is the... ...

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

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,... ...

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