Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• January 2018

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

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

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

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... ...

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

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

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

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

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

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

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

Variation over time in medical conditions and health service utilization of children with Down syndrome. ...

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

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. ...

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

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. ...

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