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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
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DNA methylation and body mass index from birth to adolescence: meta-analyses of epigenome-wide association studiesDNA methylation has been shown to be associated with adiposity in adulthood. However, whether similar DNA methylation patterns are associated with childhood and adolescent body mass index (BMI) is largely unknown. More insight into this relationship at younger ages may have implications for future prevention of obesity and its related traits. We examined whether DNA methylation in cord blood and whole blood in childhood and adolescence was associated with BMI in the age range from 2 to 18 years using both cross-sectional and longitudinal models.
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Associations between interpregnancy interval and preterm birth by previous preterm birth status in four high-income countries: a cohort studyTo investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.
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Maternal fish oil supplementation in pregnancy: a 12 year follow-up of a randomised controlled trial.We aimed to investigate the long-term effects (12 years) of fish oil supplementation in pregnancy on neurodevelopment, including cognition, language and fine...
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The influence of the neighborhood physical environment on early child health and development: A review and call for researchThis review examines evidence of the association between the neighborhood built environment, green spaces and outdoor home area, and early (0-7 years) child...
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The relationship between nutrition in infancy and cognitive performance during adolescenceNutrition in early childhood may have a long-term association with fundamental cognitive processing speed, which is likely to be related to enhanced brain...
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It takes a village to raise a child: The influence and impact of playgroups across AustraliaComprehensive quantitative and qualitative evaluation of Community Playgroups across Australia
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Research using population-based administration data integrated with longitudinal data in child protection settings: A systematic reviewOver the past decade there has been a marked growth in the use of linked population administrative data for child protection research. This is the first systematic review of studies to report on research design and statistical methods used where population-based administrative data is integrated with longitudinal data in child protection settings.
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Language and literacy in the context of early life adversityThis chapter considers the role of different forms of psychosocial adversity as risk factors for compromised language and literacy development in childhood and adolescence. Language skills play a central role in the development of prosocial interpersonal skills as well as promoting academic success through the transition to literacy.
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The EU Child Cohort Network’s core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variablesThe Horizon2020 LifeCycle Project is a cross-cohort collaboration which brings together data from multiple birth cohorts from across Europe and Australia to facilitate studies on the influence of early-life exposures on later health outcomes. A major product of this collaboration has been the establishment of a FAIR (findable, accessible, interoperable and reusable) data resource known as the EU Child Cohort Network. Here we focus on the EU Child Cohort Network's core variables.