Amy Helen Jenny Finlay-Jones Milroy Downs AFJ HM JA BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS; FRANZCP; CATCAP BApplSci (physio) MSc PhD Head, Early Neurodevelopment & Mental Health; Healthway WA Senior Research Fellow ...

• 1. Telethon Kids Institute
• Projects

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

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

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. ...

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

Streptococcus A is a bacterium often found in the throat and on the skin. ...

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

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

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

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

Building data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research ...

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

Graham Ingrid Shannon Hall Laing Simpson GL IL SS BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc PhD BMedSci (hons), PhD Honorary Research Associate Head, Children's Respiratory Science Co-Head, Children's Lung Health; Senior Research Fellow 6319 1828 ...

• 1. Telethon Kids Institute
• Projects
• Past projects

Francis Steve Mitrou Zubrick FG SR BEc FASSA, FAAMHS, MSc AM PhD Program Head, Population Health, and Team Head, Human Development and Community Wellbeing Honorary Emeritus Research Fellow 08 6319 1499 08 6319 1409 francis.mitrou@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects
• The ARC Centre of Excellence for Children and Families over the Life Course

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• July 2018

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• June 2018