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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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Associations between biological and sociodemographic risks for developmental vulnerability in twins at age 5: a population data linkage study in Western AustraliaTo investigate the prevalence of, and associations between, prenatal and perinatal risk factors and developmental vulnerability in twins at age 5.
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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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Tasmania’s child and family centres building parenting capability: a mixed methods studyThis mixed methods study investigated the impact of Tasmania’s Child and Family Centres on parents’ confidence and competence
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Childhood Education and Development Services in IndonesiaAlthough children's later experiences can still have an effect, developments in early childhood have long-lasting effects on health, behaviour and learning...
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Early Childhood Research and Indonesia's Young ChildrenThis chapter assesses what global evidence tells us about the importance of early childhood education and development...
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Inequalities in child healthy development: some challenges for effective implementationInequalities in child healthy development: some challenges for effective implementation
News & Events
It’s a draw! Creative study seeks kids’ drawings to help understand sibling dynamicsChildren across Australia aged 4-12 years are being asked to grab their crayons, pencils or pens and create their best drawing of themselves and their siblings in a simple study that will help researchers learn more about sibling relationships.
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The Kids researcher joins global program to enhance mental health of bubsA The Kids Research Institute Australia researcher whose work focuses on the mental health of babies and young children has been chosen from a global field to become one of 20 new Zero to Three Fellows.
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National campaign shows importance of early childhood brain developmentA national campaign launched on Channel 7’s Telethon aims to build community understanding of the amazing untapped potential of a baby’s developing brain, through a remarkable animated creature.