Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens. ...

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

Bone mass and density are low in females with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

• 1. Telethon Kids Institute
• Our research
• Past teams
• Genetics and Health

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist. ...

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

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. ...

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

Andrew Helen Jenny Nada Peter Whitehouse Watch and listen to Andrew Leonard Downs Murphy Jacoby AJ HM JA NM PJ PhD MBChB MPH BApplSci (physio) MSc PhD MAPP BA (Hons) MSc Angela Wright Bennett Professor of Autism Research at Telethon Kids and ...

• 1. Telethon Kids Institute
• Projects

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. ...

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

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population. ...

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

The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability. ...

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

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.  ...

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

To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study. ...

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