People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• January 2019

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• September 2016

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• August 2016

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• August 2014

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

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• February 2014

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

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