Search

Research

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.

Research

Children born preterm have impaired lung function and altered lung structure. However, there are conflicting reports on how preterm birth impacts aerobic exercise capacity in childhood. We aimed to investigate how neonatal history and a diagnosis of bronchopulmonary dysplasia (BPD) impact the relationship between function and structure of the lung, and aerobic capacity in school-aged children born very preterm.

Research

To investigate the prevalence of, and associations between, prenatal and perinatal risk factors and developmental vulnerability in twins at age 5.

Research

Studies have reported a dose-dependent relationship between gestational age and poorer school readiness. The study objective was to quantify the risk of developmental vulnerability for children at school entry, associated with gestational age at birth and to understand the impact of sociodemographic and other modifiable risk factors on these relationships. Linkage of population-level birth registration, hospital, and perinatal datasets to the Australian Early Development Census (AEDC), enabled follow-up of a cohort of 64,810 singleton children, from birth to school entry in either 2009, 2012, or 2015.

Research

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.

Research

To investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.

Research

This study finds that the EDI shows moderate validity and reliability in poor communities in Indonesia and highlights some of the difficulties associated with adapting western instruments for non-western cultures and contexts.

Research

Comprehensive quantitative and qualitative evaluation of Community Playgroups across Australia

Research

Children who enter school with limited proficiency in the language of instruction face a range of challenges in negotiating this new context, yet limited...

Research

We aimed to investigate the long-term effects (12 years) of fish oil supplementation in pregnancy on neurodevelopment, including cognition, language and fine...