This paper explains advances in extracting linked health data from the WA Data Linkage Branch ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

To examine rates and predictors of 7-day readmission in infants hospitalised before 3 months of age with infectious and non-infectious conditions. A retrospective population-based data-linkage study of 121 854 infants from a 5-year metropolitan birth cohort (2008-2012). Cox proportional hazard models were used to examine associations between infant and maternal factors with 7-day readmission. ...

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

To explore the factors influencing the uptake of cochlear implants in adults, determine the impact of each factor, and to conceptualize the journey to implantation from a multistakeholder perspective. Concept mapping was used to integrate input from multiple stakeholders, each with their own experience and expertise. ...

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

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

Jonathan Christopher Carapetis AM Blyth JR CC AM MBBS FRACP FAFPHM PhD FAHMS MBBS (Hons) DCH FRACP FRCPA PhD Executive Director; Head, Strep A Translation; Co-Founder of REACH Director, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, ...

• 1. Telethon Kids Institute
• Projects

Charlie Rebecca Christopher McLeod Pavlos Blyth CM RP CC MBBS (Hons), FRACP, PhD, DTM&H, DCH PhD, MSFS, MBBS (Hons) DCH FRACP FRCPA PhD Paediatric Infectious Diseases Clinician Researcher, Research Fellow, Raine Fellow, Deputy Director of the ...

• 1. Telethon Kids Institute
• Projects

Airways hyperresponsiveness (AHR) is one of the major clinical features of allergic airways disease including allergic asthma ...

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

Cutaneous squamous cell carcinoma is a significant cause of morbidity for immunosuppressed patients such as organ transplant recipients; however, histological parameters which predict the likelihood of tumor progression are typically based on general population studies in which immunosuppressed patients represent only a small fraction of cases.  ...

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

Esophageal cancer is a highly aggressive malignancy with a low response to standard anti-cancer therapies. There is an unmet need to develop new therapeutic strategies to improve the clinical outcomes of current treatments. Cold atmospheric plasma (CAP) is a promising approach for cancer treatment, and has displayed anticancer efficacy in multiple preclinical models. Recent studies have shown that the efficacy of CAP is positively correlated with intracellular reactive oxygen species (ROS) levels. ...

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

Maternal mental disorders have been associated with adverse perinatal outcomes such as low birthweight and preterm birth, although these links have been examined rarely among Australian Aboriginal populations. We aimed to evaluate the association between maternal mental disorders and adverse perinatal outcomes among Aboriginal births. ...

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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