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. ...

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

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• July 2011

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• April 2011

Variation over time in medical conditions and health service utilization of children with Down syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

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... ...

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

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• July 2013

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable. ...

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

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• August 2009

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management... ...

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