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Research

Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.

Research

Emerging evidence indicates that interactions between bacteria shape the nasopharyngeal microbiome and influence respiratory health. This Review uses the systematic scoping methodology to summarise 88 studies including observational and experimental studies, identifying key interactions between bacteria that colonise the human nasopharynx. 

Research

Cerebral palsy (CP) should not be considered as a diagnosis but as a label; it is an umbrella term, primarily affecting posture and mobility. The definition is not sufficiently precise to guarantee agreement as to which patients to include under this label, but the additional inclusion criteria required are not yet internationally standardised. 

Research

Epidemiology of cerebral palsy (CP) aims to describe the frequency of the condition in a population and to monitor its changes over time, and a guide to the management of patients. Classification of CP is an important step toward describing more homogenous subgroups of persons with CP.

Research

Clinical decision support systems (CDSS) are increasingly utilised within healthcare settings to enhance decision making. However, few studies have investigated their application in the context of clinical services for autistic people, with no research to date exploring the perspectives of the key stakeholders who are, or in the future may be, impacted by their use.

Research

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.

Research

Physically locating liquor stores near schools can strongly influence the chances of youth accessing and consuming alcohol, and may also increase children's exposure to alcohol advertising. Investigating the association between the presence of a liquor store near a school and the prevalence of outdoor alcohol advertising is crucial from a policy perspective, as it can inform future regulations on the placement of liquor stores and outdoor advertising near educational institutions. 

Research

The heterogeneity of autism spectrum disorder clinically and aetiologically hinders intervention matching and prediction of outcomes. This study investigated if the behavioural, sensory, and perinatal factor profiles of autistic children could be used to identify distinct subgroups. Participants on the autism spectrum aged 2 to 17 years and their families were sourced via the Australian Autism Biobank.

Research

Siblings of children with cancer have been shown to experience disruption in multiple domains including family, school, and friendships. Existing literature on siblings' experiences focuses on older children or on a broad range of ages.

Research

To identify the barriers and facilitators for timely detection and optimal management of otitis media in Aboriginal children in a primary care setting from the perspective of carers of Aboriginal children.