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

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

Debbie Susan Palmer Prescott D SL BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au susan.prescott@telethonkids.org.au Head, Early ...

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

We report the findings from a qualitative study that took place alongside a fetal alcohol spectrum disorder (FASD) prevalence study among detainees in Australia ...

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

We emphasize that barriers to planetary health and the clinical application of lifestyle medicine are maintaining an unhealthy status quo ...

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

Early life innate immune dysfunction may represent a key immunological driver and predictor of persistent food allergy in childhood ...

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

This study of young people in detention in Western Australia, has documented a high prevalence of FASD and severe neurodevelopmental impairment ...

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

This study aimed to assess the effect of n-3 fatty acid supplementation in pregnancy on offspring SPM at birth and 12 years of age (12 years) ...

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

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