How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

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

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

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

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

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

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. ...

• 1. 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. ...

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

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

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

Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

• 1. Telethon Kids Institute
• Projects

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability. ...

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

By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

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

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause... ...

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