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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.
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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.
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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.
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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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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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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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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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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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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.