This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• September 2014

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

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

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• November 2016

Medulloblastoma is curable in approximately 70 % of patients. Over the past decade, progress in improving survival using conventional therapies has stalled... ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• November 2013

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021

The framework for appropriately identifying and managing at-risk pregnant and lactating women requiring PrEP is poorly defined ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• April 2019

We observed an association between Type III DNA methyltransferase presence and Otitis Media-associated middle ear isolates ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• November 2018

Dysregulated expression of IFN-dependent pathways after respiratory viral infections is a defining immunophenotypic feature of AVB-susceptible infants ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• June 2019

Christopher Hannah Blyth Moore CC HC MBBS (Hons) DCH FRACP FRCPA PhD OAM BSc (Hons) GradDipClinEpi PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, Wesfarmers Centre of Vaccines and ...

• Telethon Kids Institute
• Projects

Christopher Peter Tom Blyth Richmond Snelling CC PC T MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP BMBS DTMH GDipClinEpid PhD FRACP Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, ...

• Telethon Kids Institute
• Projects

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. ...

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

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. ...

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