Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear ...

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

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder ...

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

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

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

Amy Jenny Andrew Helen Deborah Martyn Melissa Phil Kandice Gail Vincent Finlay-Jones Downs Whitehouse Watch and listen to Andrew Leonard Strickland Symons Licari Stumbles Varcin Alvares Mancini AFJ JA AJ HM DH MS ML PS KJ GA VOM BPsych(Hons), MPsych ...

• 1. Telethon Kids Institute
• Projects

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

Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

• 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