Skip to content
The Kids Research Institute Australia logo
Donate

Search

Breastfeeding and early child development: A prospective cohort study

Breastfeeding has been associated with multiple developmental advantages for the infant; however, there have also been a number of studies that find...

Evolution of pulmonary inflammation and nutritional status in infants and young children with cystic fibrosis

Improved nutrition is the major proven benefit of newborn screening programmes for cystic fibrosis (CF) and is associated with better clinical outcomes.

Responsiveness of the human airway in vitro during deep inspiration and tidal oscillation

In healthy individuals, deep inspiration produces bronchodilation and reduced airway responsiveness, which may be a response of the airway wall to mechanical...

Parental occupational exposure to potential endocrine disrupting chemicals and risk of hypospadias in infants

Rates and types of hospitalisations for children who have subsequent contact with the child protection system: a population based case-control study

Birthweight and the risk of childhood-onset type 1 diabetes

We investigated whether children who are heavier at birth have an increased risk of type 1 diabetes

Clustering of psychosocial symptoms in overweight children

The aims of the present study were to (i) examine the relationship between children's degree of adiposity and psychosocial functioning; and (ii) compare patterns of clustering of psychosocial measures between healthy weight and overweight/obese children.

Clinical Epigenetics

Epigenomic research at The Kids explores the links between childhood disease and the molecular hallmarks of epigenetic control.

The early Human Capability Index (eHCI)

The Early Human Capability Index is a holistic measure intended to capture early child development across diverse cultures and contexts.

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

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.