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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.
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Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorderDevelopmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples.
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Growth patterns in individuals with CDKL5 deficiency disorderAim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.
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Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD surveyTo evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.
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Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testingThis study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning.
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Thriving families: The feasibility and preliminary efficacy of a multi-component physical literacy program for children with neurodevelopmental, emotional, or behavioural problemsChildren with neurodevelopmental, emotional, or behavioural challenges participate in lower levels of physical activity (PA) and subsequently have poorer physical and mental health outcomes. We sought to determine the feasibility and preliminary efficacy of a multi-component physical literacy program for children with neurodevelopmental, emotional, or behavioural challenges.
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Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology AssociationPediatric neurology is the medical subspecialty responsible for diagnosing and managing diseases and disorders of the nervous system in childhood and adolescence. In many, but not all, regions of the world, the discipline of pediatric neurology is recognized as a specialty or subspecialty of either neurology or pediatrics. Significant knowledge and competencies in this area are necessary to be effective in clinical practice.
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Psychosocial and neurocognitive correlates of suicidal thoughts and behaviours amongst siblings of persons with and without neurodevelopmental conditionsSiblings of individuals with neurodevelopmental conditions (NDCs) have greater incidence of neuropsychiatric diagnoses and neurocognitive difficulties compared to siblings of persons without NDCs. Despite suicidality being labelled a global health crisis (WHO, 2014) and NDC siblings experiencing risk factors implicated in suicidality, no previous studies examined suicidality amongst adolescent and young adult siblings of persons with NDCs. Our study aimed to bridge this gap.
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Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future ResearchWe investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.