We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an... ...

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

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating... ...

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

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. ...

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

We hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders. ...

• 1. Telethon Kids Institute
• Projects

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets. ...

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

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. ...

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

Children with mental health disorders have lower physical activity levels compared to their peers; however, minimal research has been conducted to date to understand their unique experiences of physical activity. We sought to better understand these experiences, along with contributing factors, through interviews with children with mental health disorders and their parents/guardians. ...

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

Review of the available dental literature on assessment and management of the oral manifestations of Rett syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• June 2018

Our data demonstrate that CD8+XCR1neg DCs possess a unique pattern of endocytic receptors and a restricted TLR profile that is particularly enriched for TLR5 ...

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

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

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

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a... ...

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

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome ...

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