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Showing results for "clinical trials"

Pre-natal, clonal origin of t(1;11)(p32;q23) acute lymphoblastic leukemia in monozygotic twins

Investigation of this rare mixed lineage leukemia cytogenetic abnormality aims to provide further evidence of the genetic changes that underpin this leukemia.

Off-target effects of bacillus Calmette-Guerin vaccination on immune responses to SARS-CoV-2: implications for protection against severe COVID-19

Because of its beneficial off-target effects against non-mycobacterial infectious diseases, bacillus Calmette-Guérin vaccination might be an accessible early intervention to boost protection against novel pathogens. Multiple epidemiological studies and randomised controlled trials are investigating the protective effect of BCG against coronavirus disease 2019 (COVID-19).

Confident and Trustworthy Model for Fidgety Movement Classification

General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards up to age five months. GMs are connected to infants' neurological development and can be qualitatively assessed via the General Movement Assessment. In particular, between the age of three to five months, typically developing infants produce fidgety movements and their absence provides strong evidence for the presence of cerebral palsy.

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

Genomic testing pathways for precision health in cerebral palsy

Cerebral palsy is a diagnosis based on clinical signs and not aetiology or pathology, with only ~50% of children receiving a clinical diagnosis in the first year of life; limiting the opportunity for intervention where maximal neuronal plasticity may occur.

Inside the lab: children’s brain tumour research in WA

At The Kids Research Institute Australia, our Brain Tumour Research team is leading the charge to change the story for children diagnosed with brain cancer by working on safer, more effective treatments.

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

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. 

Anaesthesia related mortality data at a Tertiary Pediatric Hospital in Western Australia

Anaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia.

The autism phenotype and transdiagnostic dimensional frameworks

A reliable and valid diagnostic classification system is pivotal for guiding clinical decision-making, facilitating rigorous and reproducible research findings, informing population-level health planning and resource allocation, and promoting well-being.

Applying spirometry phenotypes to a longitudinal cohort born very preterm

To better characterise prematurity-associated lung disease, adult spirometry phenotype classifications (obstructive lung disease, preserved ratio impaired spirometry and dysanapsis) have been applied to children born preterm. It is unknown how these phenotypes track over time.