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

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

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

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

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

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• May 2021

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome ...

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

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and... ...

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