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Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Research
An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.
Research
School readiness is more than the child: a latent class analysis of child, family, school and community aspects of school readinessIn this paper, we aim to contribute to the understanding of the multidimensional nature of school readiness. In a sample of over 4,000 Australian children in their first year of school, we used latent class analysis to examine patterns of school readiness based on child, family, school and community characteristics, and examine the relationship between these patterns of school readiness and subsequent outcomes (reading comprehension, school absence and emotional and behavioural difficulties).
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The relationship between intrauterine foetal growth trajectories and blood pressure in young adultsPrevious studies have reported an association between low birthweight and elevated blood pressure (BP) in adulthood, but few have examined the relationship between foetal growth and adult BP.
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Long-term cost-effectiveness of Dexcom G6 real-time continuous glucose monitoring system in people with type 1 diabetes in AustraliaReal-time continuous glucose monitoring allows patients with diabetes to adjust insulin dosing, potentially improving glucose control. This study aimed to compare the long-term cost-effectiveness of the Dexcom G6 rt-CGM device versus self-monitoring of blood glucose and flash glucose monitoring in Australia in people with type 1 diabetes.
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Growth of the airway smooth muscle layer from late gestation to childhood is mediated initially by hypertrophy and subsequently hyperplasiaThe airway smooth muscle (ASM) layer thickens during development. Identifying the mechanism(s) for normal structural maturation of the ASM reveals pathways susceptible to disease processes. This study characterized thickening of the ASM layer from foetal life to childhood and elucidated the underlying mechanism in terms of hypertrophy, hyperplasia and extracellular matrix (ECM) deposition.
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Interpregnancy interval and the risk of oppositional defiant disorder in offspringThe study aimed to investigate the association between interpregnancy interval (IPI) and parent-reported oppositional defiant disorder (ODD) in offspring at 7 and 10 years of age. We used data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ongoing population-based longitudinal study based in Bristol, United Kingdom (UK).
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Neonatal sepsis: a systematic review of core outcomes from randomised clinical trialsThe lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.
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Standardization of Epidemiological Surveillance of Acute Poststreptococcal GlomerulonephritisAcute poststreptococcal glomerulonephritis (APSGN) is an immune complex-induced glomerulonephritis that develops as a sequela of streptococcal infections. This article provides guidelines for the surveillance of APSGN due to group A Streptococcus (Strep A). The primary objectives of APSGN surveillance are to monitor trends in age- and sex-specific incidence, describe the demographic and clinical characteristics of patients with APSGN, document accompanying risk factors, then monitor trends in frequency of complications, illness duration, hospitalization rates, and mortality.
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The prevalence of and potential risk factors for Developmental Language Disorder at 10 years in the Raine StudyThis study sought to determine the prevalence of Developmental Language Disorder (DLD) in Australian school-aged children and associated potential risk factors for DLD at 10 years.