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Research
Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
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The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their ChildCDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
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Veliparib Is an Effective Radiosensitizing Agent in a Preclinical Model of MedulloblastomaMedulloblastoma is the most common malignant childhood brain tumor, and 5-year overall survival rates are as low as 40% depending on molecular subtype, with new therapies critically important. As radiotherapy and chemotherapy act through the induction of DNA damage, the sensitization of cancer cells through the inhibition of DNA damage repair pathways is a potential therapeutic strategy.
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Nature play and fundamental movement skills training programs improve childcare educator supportive physical activity behaviorBoth the Nature play and fundamental movement skills professional development programs were effective in improving educators’ self-efficacy to engage children
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Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkThe MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
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Smoking cessation in pregnancy and the risk of child behavioural problems: a longitudinal prospective cohort studyThe aim of this study was to examine the influence of smoking in pregnancy on child and adolescent behavioural development, in comparison with mothers who cease
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Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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Hypertensive diseases of pregnancy and the development of behavioural problems in childhood and adolescence: The Western Australian Pregnancy Cohort StudyTo examine whether maternal gestational hypertension and preeclampsia are associated with behavioral problems in offspring
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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
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Healthway Chronic ConditionsThe aim of this project is to develop and test a series of modules to promote mental health among young people with chronic conditions, using a positive psychology framework.