Search
Research
Rare disease education in Europe and beyond: time to actPeople living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.
Research
Perceptions of two different alcohol use behaviours in pregnancy: an application of the prototype/willingness modelThis study explored whether exposure to either an ‘ambiguous consumption’ prototype (no amount of alcohol specified) or a ‘small consumption’ prototype (‘small’ amount of alcohol specified) had an impact on prototype perceptions of, and willingness to use, small amounts of alcohol during pregnancy.
Research
Standardization of epidemiological surveillance of group A Streptococcal cellulitisJonathan Jeffrey Asha Janessa Jessica Hannah Laurens Carapetis AM Cannon Bowen Pickering Daw Moore Manning AM MBBS FRACP FAFPHM PhD FAHMS BSc(Hons)
Research
Global, regional, and national disease burden estimates of acute lower respiratory infections due to respiratory syncytial virus in children younger than 5 years in 2019: a systematic analysisRespiratory syncytial virus (RSV) is the most common cause of acute lower respiratory infection in young children. We previously estimated that in 2015, 33·1 million episodes of RSV-associated acute lower respiratory infection occurred in children aged 0-60 months, resulting in a total of 118 200 deaths worldwide.
Research
Toward better characterization of restricted and unusual interests in youth with autismDespite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.
Research
Modelled estimates of hospitalisations attributable to respiratory syncytial virus and influenza in Australia, 2009–2017Respiratory syncytial virus (RSV) and influenza are important causes of disease in children and adults. In Australia, information on the burden of RSV in adults is particularly limited.
Research
A Parent-Mediated Intervention for Newborns at Familial Likelihood of Autism: Initial Feasibility Study in the General PopulationDevelopmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions.
Research
Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia modelAcute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.
Research
3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) riskGenome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression.
Research
Associations between the built environment and emotional, social and physical indicators of early child development across high and low socioeconomic neighbourhoodsEmerging evidence indicates that the built environment influences early child development. Access to, and the quality of, built environment features vary with the socioeconomic status (SES) of neighbourhoods. It has not yet been established whether the association between built environment features and early child development varies by neighbourhood SES.