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

• 1. Telethon Kids Institute
• Projects

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

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

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• May 2010

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• February 2010

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

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

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

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

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• March 2017

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

This study aimed to examine the relationship between advanced parental age and behavioural outcomes in offspring in a longitudinal cohort of children in... ...

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

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. ...

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