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

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience... ...

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

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• April 2010

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• April 2011

Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades. ...

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

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

Amy Andrew Helen Jenny Martyn Melissa Finlay-Jones Whitehouse Watch and listen to Andrew Leonard Downs Symons Licari AFJ AJ HM JA MS ML BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) PhD MBChB MPH BApplSci (physio) MSc PhD B.A. (Hons ...

• 1. Telethon Kids Institute
• Projects

Influenza infection in young children has a significant impact on medication use, absenteeism and the use of health care service ...

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

Emma Helen Jenny Peter Glasson Leonard Downs Jacoby EJ HM JA PJ BPsych BSc (Hons) PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Senior Research Fellow Principal Research Fellow Program Head, Development and Disability Biostatistician +61 ...

• 1. Telethon Kids Institute
• Projects

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

This study aimed to determine the vaccine effectiveness of the southern hemisphere trivalent inactivated influenza vaccine (TIV) in preventing... ...

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