Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study…
Primary (or elementary) school teachers are often relied upon to provide children with opportunities for physical literacy development; however, many of these teachers feel they lack the skills to effectively promote or ‘teach’ physical literacy.
Multiple studies have shown an association between intussusception (IS) and receipt of monovalent or pentavalent rotavirus vaccine (RV) in the previous 21 days. Disease severity is an important consideration for risk-benefit evaluations of RV, but n…
X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteom…
Infants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structural lung dis…
Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for fu…
The dramatic increase in the prevalence of allergic disease in recent decades reflects environmental and behavioural changes that have altered patterns of early immune development. The very early onset of allergic diseases points to the specific vul…
Fetal Alcohol Spectrum Disorder (FASD) is a condition caused by prenatal exposure to alcohol and characterised by severe neurodevelopmental impairment which have lifelong implications. Impairments in executive function, memory, cognition, language a…
Using over 50 thousand time-use diaries from two cohorts of children, we document significant gender differences in time allocation in the first 16 years in life. Relative to males, females spend more time on personal care, chores and educational ac…
Neisseria meningitidis is a gram-negative diplococcus and a transient commensal of the human nasopharynx. It shares and competes for this niche with a number of other Neisseria species including N. lactamica, N. cinerea and N. mucosa. Unlike these o…