Graham Jenny Peter Hall Downs Jacoby GL JA PJ BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate Program Head, Development and Disability Biostatistician 08 6319 1763 Jenny.Downs@ ...

• 1. Telethon Kids Institute
• Projects

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• September 2020

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• July 2020

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• February 2020

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. ...

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

This study aimed to describe overall survival and adult health in those with Rett syndrome. ...

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

Immunisation is the most effective way of protecting your child against a range of serious illnesses, including measles, hepatitis B and whooping cough. All vaccines used in Australia undergo stringent testing and ongoing monitoring. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

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

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability ...

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

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

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 investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL. ...

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