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Characterized 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.
It is plausible that offspring born to mothers using tobacco during pregnancy may have increased risk of mood disorders (depression and bipolar disorders); however, mixed results have been reported.
Australia is the only developed country to consistently undertake a developmental census of its children nationwide. The repeated collection of the Australian Early Development Census (AEDC) has provided an unprecedented opportunity to examine the prevalence of developmental vulnerability across Australia's states and territories, the socio-economic distribution of developmental vulnerability across jurisdictions, and how these distributions might have changed over time.
To investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.
DNA 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.
To investigate the prevalence of, and associations between, prenatal and perinatal risk factors and developmental vulnerability in twins at age 5.
This study explored the extent to which disaggregated support from family, peers, close friendships, teachers, and schools predicted membership into identified, sex-specific trajectories of depressed mood in 3210 Australian adolescents (49% females) based on self-report data collected at four annual time points from school Grade 6 to 9 (ages 10–16).
It is well established that children’s school readiness is associated with their later academic achievement, but less is known about whether school readiness is also associated with other measures of school success, such as students’ social and emotional wellbeing. While some previous research has shown a link between early social and emotional development and student wellbeing, results are mixed and the strength of these relationships vary depending on whether data is based on child, teachers or parents ratings and which specific student wellbeing outcomes are measured.
The neighbourhood physical environment has a weak but significant association with early childhood development
Findings support the aims of the early Human Capability Index in being adaptable and applicable for use within a range of low and middle income countries