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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

Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity. 

Research

Shannon Simpson BMedSci (hons), PhD Head, Strong Beginnings Research, Co-head Foundations of Lung Disease 08 6319 1631 Shannon.simpson@thekids.org.au

Research

The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.

Research

Smokers are at an increased risk of developing mucosal head and neck squamous cell cancers (HNSCCs) and have a worse prognosis when treated. The cellular and molecular mechanisms underlying the latter has not been established. We therefore developed an in vitro model to investigate the effects of radiation and smoking on mucosal HNSCCs. 

Research

Aim: To: (1) develop a core outcome set (COS) to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsy (CP) with varying communication, cognitive, and functional abilities; (2) categorize the assessment tools according to reporting method or observer-reported outcome measures; and (3) categorize the content of tools in the COS according to the International Classification of Functioning, Disability and Health (ICF).

Research

To test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy. 

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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.