There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. ...

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

Review of the available dental literature on assessment and management of the oral manifestations of Rett syndrome ...

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

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• August 2014

We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a... ...

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

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation... ...

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

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets. ...

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

Physical and mental health in mothers of children with Down syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• September 2008

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• September 2006

Review of the clinical and biological progress over 50 years in Rett Syndrome ...

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

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors ...

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

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

Siblings of children with intellectual disability have unique family experiences, varying by type of disability. ...

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