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. ...

• 1. 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. ...

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

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome ...

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

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• March 2019

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

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

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. ...

• 1. 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. ...

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

Vitamin D deficiency (serum 25-hydroxyvitamin D (25(OH)D) concentration <50 nmol/l) is recognised as a public health problem globally. The present study details the prevalence and predictors of vitamin D deficiency in a nationally representative sample of Australian Aboriginal and Torres Strait Islander adults aged >/=18 years. ...

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

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

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. ...

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