People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

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

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

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

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

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 ...

• Telethon Kids Institute
• Projects

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• June 2022

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. ...

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

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

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

To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

This study aimed to validate measures of sedentary time in individuals with Rett syndrome. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• October 2017