Amy Jenny Susan Desiree Keerthi Finlay-Jones Downs Prescott Silva Kottampally AFJ JA SL DS KK BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BApplSci (physio) MSc PhD MBBS BMedSci PhD FRACP MBBS, FRACP, MPH, PhD Bsc (Hons), ...

• 1. Telethon Kids Institute
• Projects

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

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

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

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

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

The potential for human-computer interaction to have a substantial impact on adults is well documented. However, its potential importance prior to birth has rarely been reported. Parental use of smartphones and tablet computers could influence the relationship between parent and baby during pregnancy (prenatal attachment) and thus child development. ...

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

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden ...

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

Helen Jenny Keely Leonard Downs Bebbington HM JA KB MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head, Development and Disability McCusker Postdoctoral Research Fellow in Type 1 Diabetes +61 419 956 946 08 ...

• 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

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

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