Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome ...

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

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

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

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

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis... ...

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

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. ...

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

Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

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

This study examined the association between typical parental work hours (including nonemployed parents) and children's behavior in two-parent heterosexual... ...

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

The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers. ...

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

Melissa Helen O'Donnell Leonard M HM BPsych (Hons), MPsych, GradDip Ed, PhD MBChB MPH Honorary Research Associate Principal Research Fellow +61 419 ...

• 1. Telethon Kids Institute
• Projects