Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• June 2024

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

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

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

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

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood ...

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

This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases. ...

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

Children with Developmental Coordination Disorder (DCD) often have difficulties running. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• July 2009

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• March 2008

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

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