Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found... ...

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

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time... ...

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

Rebecca Fiona Melissa Helen Steve Desiree Glauert Stanley O'Donnell Leonard Zubrick Silva RA FJ M HM SR DS BPsych (Hons) PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) BPsych (Hons), ...

• 1. Telethon Kids Institute
• Projects

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• March 2019

Supports are needed for families with children with disabilities to assist in meeting the child's health and developmental needs, but also to support the parents in managing the often more complex parenting environment. ...

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

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

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

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. ...

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

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... ...

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

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

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

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