Reports and Findings

Research

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 disease on computed tomography (CT) of the chest in infants with CF.

Research

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 future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.

Research

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 vulnerability of the developing immune system to environmental changes and the development of primary intervention strategies is crucial to address this unparalleled burden.

Research

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 and attention are common, and can lead to early and repeat engagement with the criminal justice system.

Research

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 activities and less time on physical and media related activities. These gender gaps in time allocation appear at very young ages and widen overtime.

Research

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 other members of the genus, N. meningitidis may become invasive, crossing the epithelium of the nasopharynx and entering the bloodstream, where it rapidly proliferates causing a syndrome known as Invasive Meningococcal Disease.

Research

Encephalitis is most often caused by a variety of infectious agents identified through diagnostic tests utilizing cerebrospinal fluid. We investigated the clinical characteristics and potential aetiological agents of unexplained encephalitis through metagenomic sequencing of residual clinical samples from multiple tissue types and independent clinical review.

Research

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Research

We examined whether caregivers of children/adolescents enroled in a randomised controlled trial (RCT) of a family-centred intervention indirectly achieved reductions in body mass index (BMI), and if these were associated with changes in their children’s BMI.

Research

This Series on urban design, transport, and health aimed to facilitate development of a global system of health-related policy and spatial indicators to assess achievements and deficiencies in urban and transport policies and features. This final paper in the Series summarises key findings, considers what to do next, and outlines urgent key actions.