This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

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

In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders ...

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

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. ...

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

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

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

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. ...

• 1. 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. ...

• 1. 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... ...

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

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. ...

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

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome... ...

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

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers. ...

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

Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Physical and mental health in mothers of children with Down syndrome. ...

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