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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case studyThere are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.
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Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic DermatitisDebbie Susan Palmer Prescott BSc BND PhD MBBS BMedSci PhD FRACP Head, Early Life & Life-Course Health Program; Team Lead, Nutrition in Early Life
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Association between preschooler movement behaviours, family dog ownership, dog play and dog walking: Findings from the PLAYCE studyPhysical inactivity in childhood is a major public health issue. Dog ownership has been widely reported to lead to greater physical activity in adults and school-aged children. We examined if dog ownership and dog-facilitated physical activity were associated with higher physical activity in preschoolers. Secondary analysis of the 'Play Spaces & Environments for Children's Physical Activity' (PLAYCE, 2015-2018) study involving 1366, 2-5-year-olds from 122 long day-care centres in Perth, Australia was conducted.
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Eye Gaze in Autism Spectrum Disorder: A Review of Neural Evidence for the Eye Avoidance HypothesisReduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli.
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Correlates of Help-Seeking Behaviour in Adolescents Who Experience Bullying VictimisationA commonly suggested strategy for addressing bullying is for victims to seek help from a trusted person. Despite this recommendation, there are a group of adolescent victims who choose not to seek help. This study aimed to identify factors associated with not seeking help among adolescents who experienced bullying victimisation.
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COVID-19 implications for pediatric anesthesia: Lessons learnt and how to prepare for the next pandemicCOVID-19 is mainly considered an “adult pandemic,” but it also has strong implications for children and consequently for pediatric anesthesia. Despite the lethality of SARS-CoV-2 infection being directly correlated with age, children have equally experienced the negative impacts of this pandemic.
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B Part of It School Leaver Study: A Repeat Cross-Sectional Study to Assess the Impact of Increasing Coverage With Meningococcal B (4CMenB) Vaccine on Carriage of Neisseria meningitidisRecombinant protein-based vaccines targeting serogroup B meningococci protect against invasive disease but impacts on carriage are uncertain. This study assessed carriage prevalence of disease-associated meningococci in 2018-2020 as the proportion of vaccinated adolescents increased following introduction of a school-based 4CMenB immunization program.
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Anesthetic considerations in children with asthmaDue to the high prevalence of asthma and general airway reactivity, anesthesiologists frequently encounter children with asthma or asthma-like symptoms. This review focuses on the epidemiology, the underlying pathophysiology, and perioperative management of children with airway reactivity, including controlled and uncontrolled asthma.
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Outcomes in extremely low birth weight (≤500 g) preterm infants: A Western Australian experienceExtremely preterm infant survival has significantly improved with advanced neonatal care; however outcomes of infants born with birth weight ≤500 g remain poor. We aimed to review outcomes of this cohort in our Institution.
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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.