Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• March 2023

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

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

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• April 2014

There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• December 2014

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• September 2014

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

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

Siblings of children with disabilities: challenges and opportunities ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• January 2009

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). ...

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• Telethon Kids Institute
• Projects

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

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

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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