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Research

Pragmatic Adaptive Trial for Respiratory Infection in Children (PATRIC) Clinical Registry protocol

Acute respiratory infections (ARI) are the most common cause of paediatric hospitalisation. There is an urgent need to address ongoing critical knowledge gaps in ARI management. The Pragmatic Adaptive Trial for Respiratory Infections in Children (PATRIC) Clinical Registry will evaluate current treatments and outcomes for ARI in a variety of paediatric patient groups.

Research

Protocol for establishing a core outcome set for evaluation in studies of pulmonary exacerbations in people with cystic fibrosis

Pulmonary exacerbations are associated with increased morbidity and mortality in people with cystic fibrosis (CF). There is no consensus about which outcomes should be evaluated in studies of pulmonary exacerbations or how these outcomes should be measured.

Research

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

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.

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

Research

Rheumatic heart disease: infectious disease origin, chronic care approach.

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings.

Research

Efficacy of acute myeloid leukemia therapy without stem-cell transplantation in a child with blastic plasmacytoid dendritic cell neoplasm

Our case demonstrates that AML therapy, without HSCT, can be sufficient to treat this rare disease in children.

Research

Effect of early carriage of streptococcus pneumoniae on the development of pneumococcal protein-specific cellular immune responses in infancy

The aim of this study was to examine the relationship between nasopharyngeal pneumococcal colonization in early life and the development of T cell responses.

Research

Dispensing patterns and pregnancy outcomes for women dispensed selective serotonin reuptake inhibitors in pregnancy

The purpose of this study was to investigate dispensing patterns and pregnancy outcomes for women dispensed an SSRI in pregnancy.

News & Events

The Kids researchers who helped identify rare disorder now poised to help the hunt for treatment

Two The Kids Research Institute Australia researchers recognised for their role in building a global database for CDKL5 deficiency disorder are now helping to set the scene for clinical trials of much-needed potential treatments.

News & Events

DiabHQ App Rollout

The new DiabHQ Patient Portal App for WA children and families living with type 1 diabetes is now available.