Reports and Findings

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Impaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.

Dissociation is often distressing, yet how affected adolescents manage dissociation in their daily lives is not well understood. This study aimed to describe the strategies adolescents use to manage dissociative symptoms from the perspective of adolescents themselves, their parents, and their clinicians.

Vitamin D has been recognized to have a significant impact on modulating immune response in the host body. The relationship between deficiency of Vitamin D and rectovaginal colonization with Group B Streptococcus (GBS) in pregnant women is still not well understood. 

Adverse prenatal conditions can induce intrauterine growth restriction and increase the risk of adulthood metabolic disease. Mechanisms underlying developmentally programmed metabolic disease remain unclear but may involve disrupted postnatal circadian rhythms and kisspeptin signalling. 

Culturally safe healthcare approaches are important to improve outcomes of Indigenous people. Non-Indigenous clinicians are often ill-prepared to provide such healthcare. The NHMRC Centre for Research Excellence (CRE) especially for First Nations Children has been studying for several years how to improve clinical care for Indigenous children with respiratory disease in hospital, clinic, urban, rural and remote settings. 

Loneliness is an unavoidable facet of human existence. When chronic and intense, adolescent loneliness is associated with maladjustment over time. A prospective multiple-cohort study examined the links between child-reported loneliness and coping skills and parent-rated child mental health in early adolescence, with a total of 266 students from 75 primary and 152 secondary schools.

Following widespread exposure to Omicron variants, SARS-CoV-2 has transitioned to endemic circulation. Populations now have diverse infection and vaccination histories, resulting in heterogeneous immune landscapes. Careful consideration of the value of ongoing vaccination is required through the post-Omicron phase of COVID-19 management to minimise disease burden.

We aimed to synthesise global prevalence estimates of type 2 diabetes among Indigenous youth aged under 25 years, and examine age- and gender-specific differences and secular trends.

Cancer is a leading cause of death globally. Accurate cancer burden information is crucial for policy planning, but many countries do not have up-to-date cancer surveillance data. To inform global cancer-control efforts, we used the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 framework to generate and analyse estimates of cancer burden for 47 cancer types or groupings by age, sex, and 204 countries and territories from 1990 to 2023, cancer burden attributable to selected risk factors from 1990 to 2023, and forecasted cancer burden up to 2050.