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Research

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.

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To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Research

Regular intramuscular (i.m.) benzathine penicillin G (BPG) injections have been the cornerstone of rheumatic heart disease (RHD) secondary prophylaxis since the 1950s. Patient adherence to IM BPG is poor, largely due to pain, the need for regular injections every 3-4 weeks and health sector delivery challenges in resource-limited settings. There is an urgent need for new approaches for secondary prophylaxis, such as an implant which could provide sustained penicillin concentrations for more than 6 months.

Research

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

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This study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally.

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Bronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy.

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The past three decades have seen a major shift in our understanding of the strong links between autism and identity. These developments have called for careful consideration of the language used to describe autism.

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The intensity of transmission of Aedes-borne viruses is heterogeneous, and multiple factors can contribute to variation at small spatial scales. Illuminating drivers of heterogeneity in prevalence over time and space would provide information for public health authorities. The objective of this study is to detect the spatiotemporal clusters and determine the risk factors of three major Aedes-borne diseases, Chikungunya virus, Dengue virus, and Zika virus clusters in Mexico.

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Trans youth are at high risk of mental health difficulties and negative life events. Strong parental support is highly protective however there is little understanding of what factors facilitate the process of parental understanding and acceptance of a child’s gender identity.

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Indigenous peoples in high income countries are disproportionately affected by Type 2 Diabetes. Socioeconomic disadvantages and inadequate access to appropriate healthcare are important contributors.