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

Our aims were to describe the epidemiological distribution of paediatric invasive group A Streptococcus disease in Australia and correlate this with influenza notifications ...

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

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

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

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

Early nutrition in infancy may influence later child health outcomes including overweight through 'programming'. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• July 2012

Preliminary evidence suggests that prenatal testosterone exposure may be associated with language delay. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• July 2012

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

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

Globally, ARF and RHD cause more than a quarter of a million deaths and substantial disability each year. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• August 2012

We review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning ...

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

Midwifery university education is an important arena for developing future vaccine advocates ...

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