To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome. ...

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

Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, Development and Disability Head, Vaccine Trials Group +61 419 956 946 08 6319 1763 helen.leonard@ ...

• 1. Telethon Kids Institute
• Projects

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 1. Telethon Kids Institute
• Projects

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

A balanced approach toward sun exposure and protection is needed by young people. Excessive sun exposure increases their risk for skin cancers such as melanoma, whereas some exposure is necessary for vitamin D and healthy bones. We have developed a new iOS smartphone app-Sun Safe-through a co-design process, which aims to support healthy and balanced decision-making by young teenagers (aged 12-13 years). ...

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